case study of a 3 year old with down syndrome

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• World J Cardiol
• v.15(11); 2023 Nov 26
• PMC10696207

Down syndrome child with multiple heart diseases: A case report

Mo-wei kong.

Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China

Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China. moc.qq@735748294

Zhen-Ying Pei

Department of Dermatology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China

Guo-Xiang He

Co-corresponding authors: Jun Li and Guo-Xiang He.

Author contributions: Kong MW and Li YJ conceived and designed the study protocol and drafted the manuscript; Li J and He GX were involved in the data collection; Pei ZY and Xie YY analyzed the data; all authors were involved in the critical review of the results and have contributed to, read, and approved the final manuscript. Kong MW and Li YJ contributed equally to this work as co-first authors. Li J and He GX contributed equally to this work as co-corresponding authors. The reasons for designating Kong MW and Li YJ as co-first authors, and Li J and He GX as co-corresponding authors are threefold. First, the research was performed as a collaborative effort, and the designation of co-corresponding authorship accurately reflects the distribution of responsibilities and burdens associated with the time and effort required to complete the study and the resultant paper. This also ensures effective communication and management of post-submission matters, ultimately enhancing the paper’s quality and reliability. Second, the overall research team encompassed authors with a variety of expertise and skills from different fields, and the designation of co-corresponding authors best reflects this diversity. This also promotes the most comprehensive and in-depth examination of the research topic, ultimately enriching readers’ understanding by offering various expert perspectives. Third, the co-first authors and co-corresponding authors contributed efforts of equal substance throughout the research process. The choice of these researchers as co-first authors or co-corresponding authors acknowledges and respects this equal contribution, while recognizing the spirit of teamwork and collaboration of this study. In summary, we believe that designating Kong MW and Li YJ as co-first authors, and Li J and He GX as co-corresponding authors is fitting for our manuscript as it accurately reflects our team’s collaborative spirit, equal contributions, and diversity.

Corresponding author: Jun Li, MD, Doctor, Department of Cardiology, Guiqian International General Hospital, No. 1 Dongfeng Avenue, Wudang Distract, Guiyang 550018, Guizhou Province, China. moc.qq@735748294

Down syndrome, also known as trisomy 21 syndrome, is commonly associated with congenital heart disease, and can often result in early formation of pulmonary hypertension. The development of pulmonary hypertension can result from factors such as intracardiac and macrovascular shunts, and upper airway obstruction or hypoplasia of lung tissue. Individuals with Down syndrome and congenital heart disease have a significantly lower average life expectancy, with surgical intervention being the most viable treatment option to improve longevity.

CASE SUMMARY

We report the case of a 13-year-old boy with Down syndrome presenting with atrial septal defect and patent ductus arteriosus along with severe pulmonary hypertension. The electrocardiogram shows sinus rhythm and right ventricular hypertrophy. The echocardiogram shows an atrial septal defect with interrupted echo in the interatrial septum, measuring 0.813 cm in length. The patient was initially refused to be offered surgical treatment by many hospitals due to the high surgical risk and pulmonary artery resistance. After discussing the patient’s diagnosis and treatment options, we ultimately recommended surgical treatment. However, the patient and their family declined this recommendation and chose to be discharged. During the follow-up period of 6 mo, there were no significant improvements or deteriorations in the patient’s condition.

In conclusion, this case highlights the challenges faced by individuals with Down syndrome and congenital heart disease complicated by severe pulmonary hypertension. Timely intervention and a multidisciplinary approach are crucial for improving prognosis and life expectancy. Further research is needed to enhance our understanding and develop effective interventions for this population.

Core Tip: This case study presents a 13-year-old boy diagnosed with Down syndrome alongside atrial septal defect, patent ductus arteriosus, and severe pulmonary hypertension. A complex condition initially met with surgical treatment denial due to high risks, highlights the significant challenges faced by individuals with Down syndrome and congenital heart disease. This case highlights the discussion and educational value surrounding the decision to undergo surgery in complex congenital heart diseases. The educational value lies in the diagnostic and therapeutic approaches demonstrated by our team. Due to the relatively common occurrence of this case in the field of cardiology, our decision-making process holds significant value and applicability.

INTRODUCTION

Down syndrome (DS), also known as trisomy 21 syndrome (Figure ​ (Figure1), 1 ), is the most prevalent genetic disorder among Chinese children. The disease arises due to a mutation of the 21 st pair of chromosomes, resulting in the duplication of genetic material. Common clinical manifestations include developmental abnormalities, intellectual disability, and an increased propensity for digestive tract and cardiovascular malformations[ 1 ]. Reports suggest that the incidence of congenital heart disease (CHD) in DS patients ranges from 40%-60% and can lead to heart failure, pulmonary vascular disease (PVD), and pneumonia[ 2 , 3 ]. Early diagnosis and surgical intervention are vital to prolong survival and enhance the quality of life of these children[ 4 ]. However, DS is a chromosomal disease impacting multiple systems, and opinions differ on the effectiveness of surgical intervention.

Differences between the chromosomes of normal individuals and Down syndrome patients. A: Normal human chromosome sequence; B: Down syndrome patients chromosome sequence.

In the present case, the patient was refused to be offered surgical intervention by multiple hospitals due to the high risk of pulmonary arterial resistance. However, after extensive consultation, our hospital reassessed the patient’s situation and proposed a promising treatment plan that ultimately gave the child a chance at life. This case may serve as a valuable reference for the management and treatment of similar cases.

CASE PRESENTATION

Chief complaints.

A 13-year-old boy presented to our hospital for further evaluation and treatment.

History of present illness

The patient was diagnosed as having DS with CHD. A patent ductus arteriosus (PDA) closure was successfully performed, but atrial septal defect (ASD) closure was withheld due to the patient’s complicated pulmonary arterial hypertension. After treatment, the patient’s activity tolerance improved. On July 29, 2020, the patient sought medical care at the Yan’an Hospital of Kunming City, where cardiac catheterization revealed a pulmonary artery pressure of 95/41/66 mmHg and a right ventricular pressure of 97/-10/38 mmHg. He was diagnosed with ASD complicated with severe pulmonary arterial hypertension, and continuation of oral Bosentan and Sildenafil for the management of pulmonary arterial hypertension was recommended.

History of past illness

The patient’s medical history revealed that at 2 mo of age, he was diagnosed at another hospital with CHD characterized by ASD and PDA. However, no treatment was provided. In 2018, the patient developed “cyanosis of the lips and shortness of breath after exercise” and was admitted to Fuwai Hospital, where he was diagnosed with ASD and PDA, along with an enlarged heart, severe pulmonary hypertension (PH), and cardiac function Grade II.

Physical examination

Physical examination revealed a pulse rate of 95 bpm, blood pressure of 113/55 mmHg, and pale purplish lips. Cardiac percussion examination revealed leftward expansion of the heart border. Auscultation revealed regular heart rhythm with mild hyperactivity of P2, but no discernible noise.

Imaging examinations

Frontal and lateral chest digital radiography (DR) revealed the presence of reticular shadows in the mediastinal area indicative of postoperative changes (Figure ​ (Figure2). 2 ). A conventional 12-lead electrocardiogram (ECG) (Figure ​ (Figure3) 3 ) was conducted during the outpatient visit, which revealed sinus rhythm and right chamber hypertrophy. An echocardiogram was also performed, which showed an ASD (central secondary foramen) with an interrupted middle echo in the atrial septum measuring 0.813 cm. The position and functionality of the PDA interventional closing device were normal, the right atrium and ventricle show enlarged diameters and increased wall thickness in the right ventricle (Figure ​ (Figure4). 4 ). According to subsequent reports, the patient exhibits blood flow signals indicating left-to-right shunting that can be visualized in the atrium. Additionally, a small regurgitant jet can be observed at the tricuspid valve during atrial contraction, with peak flow velocity of 398cm/s and a peak pressure gradient of 63mmHg. Following these assessments, the patient was referred to our department for the management of “ASD and associated PH”.

Anteroposterior and lateral digital radiography of the chest.

Conventional 12-lead electrocardiogram.

Echocardiography demonstrated the presence of an atrial septal defect and associated left to right shunt.

FINAL DIAGNOSIS

The patient was finally diagnosed with: (1) ASD (central foramen secundum type); (2) moderate PH; (3) PDA (after interventional closure); and (4) DS.

For patients with inconsistent severe PH following the results of physical examination, ECG, chest DR, right cardiac catheterization, and cardiac ultrasound, it is necessary to consider the possibility of measurement instrument errors and judgment bias. We also considered the possibility of heart-lung combined transplantation. However, due to the high surgical trauma and shortage of donors, we took a conservative approach when discussing this option. Further surgical plans will be presented in the “DISCUSSION” section.

OUTCOME AND FOLLOW-UP

The patient ultimately did not accept our surgical recommendation and opted for conservative treatment (oral PH medication) before being discharged.

We conducted a 6-mo follow-up during which the patient did not show significant improvement or worsening of his condition. During the follow-up period, the patient sought medical care at two other hospitals and continued to decline surgical treatment.

After extensive discussion by our hospital’s expert group, the following findings in this case are summarized. The child had been diagnosed with DS associated with CHD. Despite a previous diagnosis by other medical facilities of severe PH (systolic pulmonary pressure > 70 mmHg), our physical examination only noted mild accentuated P2 heart sound, suggesting that the patient’s actual PH may be mild or nonexistent, or potentially present with a two-way shunt. And the child’s ECG demonstrated right ventricular high voltage without any signs of right bundle branch block, and with a low or upside-down ST-T wave, which suggests that the right ventricular hypertrophy may not have been significant. Chest DR indicated slightly expanded pulmonary artery sections without any sparse blood vessels indicative of the “no truncating phenomenon.” Therefore, further evaluation was necessary via right-heart catheterization to obtain critical indicators for assessing the patient’s pulmonary artery pressure. Further investigation was conducted to analyze the relationship between the patient’s PDA and ASD. In children with PDA, blood enters the pulmonary arteries through the ASD, leading to a significant increase in pulmonary blood flow (PBF) and left ventricular overload, resulting in an increase in long-term PBF and pulmonary vascular resistance (PVR), eventually leading to PH in later stages. As PH worsens, right-to-left shunting occurs at the atrial level, known as the Eisenmenger syndrome, indicated by clinical cyanosis. However, the child’s ultrasonic display did not show a significant increase in the left ventricle. This may be due to the merged ASD, which leads to an increase in the left heart load and the occurrence of left-to-right shunting at the atrial level. After interventional closure of the PDA, the left-to-right shunt in the atrium was reduced, and the systolic pulmonary pressure decreased compared to that previously, significantly improving the patient’s symptoms.

It is important to exercise caution and conduct proper communication and evaluation before considering the closure of an ASD in a child with DS combined with CHD, as the prognosis is poor, and the risks associated with anesthesia and surgery are substantial. It is also possible that, even after right heart catheterization, there still may not be any indication for interventional closure or surgery. If a patient’s parents fully understand their child’s medical condition, treatment plan, surgical risks and benefits, as well as prognosis, but still desire right heart catheterization and any necessary interventional therapy, it is advisable to arrange for general anesthesia appropriate for the cardiac catheterization procedure.

Unfortunately, the patient’s parents were unaware of the above situation and declined the surgical recommendation. Therefore, further cardiac catheterization for examination and treatment was not performed, and he continued to take pulmonary artery pressure-lowering drugs and was discharged from the hospital for follow-up.

We also performed a review of the related literature. CHD is the most common type of malformation associated with DS and is a significant cause of mortality in DS patients. The early onset of PH resulting from cardiac defects and respiratory tract hypoplasia can lead to PVD and heart failure, further worsening the timing of surgery and prognosis. Early diagnosis and timely intervention are crucial in prolonging the survival and improving the quality of life of DS patients.

DS is frequently associated with malformations across multiple organ systems, with CHD being the most significant factor affecting patient survival. Approximately 40%-60% of DS cases are associated with CHD[ 5 ]. The specific types of CHD associated with DS and their respective composition ratios vary across different countries and regions. In North East England, atrioventricular septal defect (AVSD) is the most common (42%) type of CHD associated with DS, followed by ventricular septal defect (VSD) at 31%. Other types such as ASD, tetralogy of Fallot (TOF), and PDA account for 15%, 5%, and 4%, respectively[ 5 ]. In Mexico, ASD is the most common type, accounting for approximately 38%, while VSD and PDA make up 30% and 21%, respectively[ 6 ]. In Germany, the most frequently observed type of CHD in DS cases is AVSD (51.2%), followed by VSD (25.1%), TOF (6.7%), and ASD (8.9%)[ 7 ]. In Asia, VSD is the most common type of CHD associated with DS, accounting for 43%, followed by AVSD (15.4%), ASD (13.4%), and TOF (13.4%)[ 8 ]. The reasons for these regional differences remain unclear.

The pathogenesis of PH in patients with DS and CHD is multifaceted and may be related to both anatomical and physiological changes in the lung circulation[ 9 ]. Abnormal shunting caused by heart malformations and other factors, such as upper respiratory tract obstruction and lung tissue development in DS children, contribute to the formation of PH. Deformities in the heart structure result in abnormal shunting, with shunts flowing from left to right causing an increase in PBF[ 10 ]. This creates additional shear force on the pulmonary vascular endothelium, leading to irreversible internal cellular damage. Forward-looking studies have found that more than half of DS children show signs of PH, with AVSD often being linked to its formation. Large internal defects cause a significant amount of blood to shunt from left to right after birth, resulting in pulmonary vascular bed damage and the formation of PVD[ 11 , 12 ].

Furthermore, the abnormal blood shunt in the heart increases the blood flow in small arteries, leading to early reflection spasm in the pulmonary arteries and increased pulmonary circulation resistance[ 13 ]. The prolonged high flow in the pulmonary circulation leads to the main pathological change of blood vessel remodeling, eventually resulting in irreversible PVD. Studies have demonstrated that, before the age of one year, DS children show lower average PBF and average PVR levels compared to non-DS children[ 14 , 15 ]. Approximately 10% of DS children are diagnosed with pulmonary vascular obstructive diseases (PVOD) before the age of one year, which is not observed in non-DS children. Furthermore, compared to non-DS children with CHDs, DS children with CHDs exhibit a faster increase in PVR and an equivalent trend towards PVOD in the first year after birth[ 16 ].

Endothelial progenitor cell dysfunction is also involved in the formation of PH in children with DS. Endothelial progenitor cells maintain the stability of blood vessels and participate in the production of vascular endothelial cells[ 17 ]. Their dysfunction is mainly reflected in a reduction of cell number and physiological function, leading to damage in maintaining the stability of blood vessels and resulting in severe or irreversible damage in the early stages of pulmonary vessel development[ 18 ]. Furthermore, several studies have indicated higher levels of various inflammatory mediators in DS children, including tumor necrosis factor-α, interleukin-6, and C-reactive protein, among others. This is also considered to impact the number of endothelial progenitor cells circulating in the blood[ 19 ].

Early onset, severe disease, and rapid progression of PH are observed in patients with DS and CHD. Therefore, early evaluation and diagnosis are critical to improving their prognosis. The assessment process involves echocardiography to determine the morphological changes in the heart and detect the presence of PH. Generally, evaluation of pulmonary arterial compression is conducted using the three-pointed reflux peak speed and Doppler ultrasonic images in combination with other ultrasonic indicators that could potentially indicate PH, such as increased pulmonary valve reflux speed, enlargement of the right heart cavity, and enlargement of the main pulmonary artery[ 20 ]. Evaluation also includes clinical manifestations, peripheral blood oxygen saturation, and other indicators to determine the level of PH.

In some cases, cardiac catheterization and acute pulmonary vascular dilation tests may be necessary to determine the level of PVD[ 21 ]. A pulmonary artery pressure of ≥ 25 mmHg under right cardiac catheterization in a static state is diagnostic for PH. Severe PH patients who cannot undergo surgery can lower their pulmonary artery pressure by taking oral diuretics and vasodilators, and partially benefit from targeted therapies[ 21 ].

Children with DS and CHD often experience repeated lung infections, weight loss, and advanced heart failure in the early stages before undergoing surgical treatment to correct cardiovascular malformations. Delayed treatment can result in an increased risk of mortality[ 16 - 18 ]. To investigate the status of DS with CHD over the past decade, we conducted a search of Chinese and international databases to identify cases who underwent surgical treatment. However, we found that some of these cases were deemed unsuitable for surgery (Table ​ (Table1). 1 ). It is important to recognize that delaying surgical treatment can increase the risk of severe complications and mortality. This highlights the need for early assessment and diagnosis to improve the prognosis of DS children with CHD.

Basic characteristics of included studies evaluated not suitable for surgery

The data in Table ​ Table1 1 highlight a notable discrepancy between those deemed “unsuitable for surgery” and those who passed away without undergoing surgery in various studies. This difference may be due to the various types of combined heart diseases observed in different regions or sample size differences. Nevertheless, some children are unable to receive surgical treatment and may even pass away while waiting for surgery.

Informed consent statement: Written informed consent was obtained from the patient’s parents for publication of the study.

Conflict-of-interest statement: The authors declare that they have no competing interests to disclose.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Provenance and peer review: Unsolicited article; Externally peer reviewed.

Peer-review model: Single blind

Peer-review started: September 6, 2023

First decision: September 20, 2023

Article in press: October 27, 2023

Specialty type: Cardiac and cardiovascular systems

Country/Territory of origin: China

Peer-review report’s scientific quality classification

Grade A (Excellent): 0

Grade B (Very good): 0

Grade C (Good): C

Grade D (Fair): D

Grade E (Poor): 0

P-Reviewer: Surani S, United States; Akash Batta, India S-Editor: Lin C L-Editor: Wang TQ P-Editor: Yuan YY

Contributor Information

Mo-Wei Kong, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China.

Yi-Jing Li, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China.

Jun Li, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China. moc.qq@735748294 .

Zhen-Ying Pei, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China.

Yu-Yu Xie, Department of Dermatology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China.

Guo-Xiang He, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China.

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CHAPTER 21:  Case Study: Down Syndrome

Alyssa LaForme Fiss, PT, PhD, PCS; Susan K. Effgen, PT, PhD, FAPTA

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Introduction, examination: age 3 years.

• Evaluation, Diagnosis, and Prognosis Including Plan of Care
• Intervention
• Procedural Interventions
• Termination of Episode of Care
• Examination: Age 16 Years
• Systems Review
• DISCUSSION QUESTIONS
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This case study focuses on the ongoing physical therapy management of Carrie, a child with Down syndrome. Carrie has received physical therapy services from the age of 4 weeks to the present. For individuals with Down syndrome, episodes of physical therapy services may be necessary across the life span to address changing issues as growth occurs and as the child gains increasing independence in various environments. Functional demands change as the individual moves from infancy, through the school years, and into adulthood.

Individuals with Down syndrome commonly present with impairments in strength ( Stemmons-Mercer & Lewis, 2001 ), range of motion (ROM) ( Zausmer & Shea, 1984 ), tone ( Shea, 1991 ), balance and coordination ( Connolly & Michael, 1986 ; Lauteslanger, Vermeer, & Helders, 1998 ), and sensory processing ( Uyanik, Bumin, & Kayihan, 2003 ) leading to delays in acquisition of motor skills and to functional limitations. Associated impairments, such as mental retardation ( Hayes & Batshaw, 1993 ; Henderson, Morris, & Ray, 1981 ), cardiovascular pathology ( Freeman et al., 1998 ), and frequent middle ear infections, may also have a negative impact on motor skill acquisition and activities.

The impairments of body structure and function and limitations in activities and participation presented by Carrie led the health-care team to consider the physical therapy management options described in Preferred Practice Patterns 5B: Impaired Neuromotor Development and 4C: Impaired Muscle Performance as outlined in the American Physical Therapy Association (APTA)'s Guide to physical therapist practice ( APTA, 2001 ). Ultimately, Pattern 5B: Impaired Neuromotor Development was selected because of Carrie's delayed motor skill development, impaired cognition, and sensory integration impairments. This case study will focus on episodes of care at 3 years and 16 years of age, with a brief review of Carrie's transition into adulthood. Physical therapy services at ages 3 and 16 were provided by therapists working in educational settings in accordance with the federal legislation Individuals with Disabilities Education Act (IDEA) (2004) .

At Carrie's birth in the late 1970s, doctors were suspicious of a potential diagnosis of Down syndrome. She presented with soft signs, including slanted eyes, poor sucking reflex, and hypotonia ( Fig. 21.1 ). When Carrie was 2 days old, she was transferred from her local rural hospital to a major urban hospital for genetic testing. At this time, a diagnosis of Down syndrome was confirmed. Her parents, Tim and Peggy, were both 35 years old and had three other children: Wendy, 12 years; Jamie, 9 years; and Thea, 4 years. Tim and Peggy's initial reactions were love for Carrie, fear of the unknown, and uncertainty of their capabilities as parents of a child with special needs. However, they were determined to help Carrie in every way they could.

Figure 21.1

Carrie at birth.

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• Second Opinion

Down Syndrome (Trisomy 21) in Children

What is Down syndrome in children?

Down syndrome is a genetic disorder. It is also called trisomy 21. It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing. How severe or mild these problems are varies from child to child.                        

Down syndrome is one of the most common genetic birth defects. It affects about 1 in 800 babies. Adults with Down syndrome may live about 60 years, but this can vary.

What causes Down syndrome in a child?

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes. Half are from the father and half are from the mother.

But sometimes an error occurs when the 46 chromosomes are being divided in half. An egg or sperm cell may keep both copies of chromosome number 21, instead of just 1 copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome number 21. This is called trisomy 21.

Sometimes the extra number 21 chromosome or part of it is attached to another chromosome in the egg or sperm. This may cause translocation Down syndrome. This is the only form of Down syndrome that may be inherited from a parent.

A rare form is called mosaic trisomy 21. This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number 21.

Which children are at risk for Down syndrome?

A mother’s age at her child’s birth is the only factor linked to the risk of having a baby with Down syndrome. This risk increases with each year of age, especially after age 35. But younger women are more likely to have babies than older women. So most babies with Down syndrome are born to women younger than 35.

What are the symptoms of Down syndrome in a child?

Symptoms can occur a bit differently in each child. They can include:

Eyes that slant upward

Small ears that may fold over slightly at the top

Small mouth that makes the tongue appear large

Small nose with a flattened bridge

Small hands with short fingers

2 instead of 3 palm creases, including one across the palm and one around the base of the thumb

Short height

Loose joints

Most children with Down syndrome will have some but not all of these features.

Down syndrome can also include:

Heart defects

Intestinal problems

Vision problems

Hearing problems

Thyroid problems

Blood conditions, such as leukemia, and risk for infections

Learning problems

How is Down syndrome diagnosed in a child?

Chromosome problems such as Down syndrome can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This can also be done by looking at the amount of the baby’s DNA in the mother's blood. This is a noninvasive prenatal screening. These tests are very accurate.

Fetal ultrasound during pregnancy can also show the possibility of Down syndrome. But ultrasound is not 100% accurate. Problems from Down syndrome may not be seen with ultrasound.

After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome.

How is Down syndrome treated in a child?

There is no cure for Down syndrome. But a child with Down syndrome may need treatment for problems such as:               

Heart defects. About half of babies with Down syndrome have heart defects. Some defects are minor and can be treated with medicines. Others may need surgery. All babies with Down syndrome should be looked at by a pediatric cardiologist. This is a healthcare provider who specializes in children’s heart diseases. Babies with Down syndrome should also have an echocardiogram. This is a test that looks at the structure and function of the heart by using sound waves. This exam and test should be done in the first 2 months of life. This is so that any heart defects can be treated.

Intestinal problems. Some babies with Down syndrome are born with intestinal structure problems that need surgery.

Vision problems. Common problems include crossed eyes, nearsightedness or farsightedness, and cataracts. Most eyesight problems can be made better with eyeglasses, surgery, or other treatments. Your child should see an eye doctor (pediatric ophthalmologist) before he or she turns 1 year old.

Hearing loss. This is caused by fluid in the middle ear, a nerve defect, or both. Your child should get regular hearing tests so any problems can be treated early. This will help with language development.

Other health problems. Children with Down syndrome may have thyroid problems and leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Your child should get regular medical care and stay up to date on vaccines.

Learning problems. These vary widely from child to child. They can be mild, moderate, or severe. But most learning problems are mild to moderate. Many children are helped with early intervention and special education.

Some people claim that giving high-dose vitamins to children with Down syndrome will improve their learning and development problems. No studies have proved that this works.

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.

What are possible complications of Down syndrome in a child?

Complications of Down syndrome vary depending on the body organ affected and the severity of the problem. Problems include certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing. How severe the complications are varies from child to child. Treatment will also vary depending on the body organ affected and the severity of the problem. Your child’s healthcare provider will discuss treatment options with you.

What can I do to help prevent Down syndrome in my child?

Researchers don’t know how to prevent the chromosome errors that cause this disorder. There is no reason to believe parents can do anything to cause or prevent Down syndrome in their child.

For women who have had one child with Down syndrome, the chance of having another baby with Down syndrome depends on several things. Age is one factor. Most babies with Down syndrome are born to women younger than 35. This is because women under 35 have more babies than women over 35.

Your healthcare provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests in detail. He or she can talk about risks for future pregnancies and what tests are available to diagnose chromosome problems before a baby is born.

Some medical organizations advise that all pregnant women of any age be offered screening for Down syndrome. Talk with your healthcare provider about this prenatal screening test.

How can I help my child live with Down syndrome?

Children with Down syndrome can usually do most things that any young child can do. They can walk, talk, dress themselves, and be toilet trained. But they usually do these things at a later age than other children. The exact ages of these development milestones is different for each child. Early intervention programs that begin when a child is a baby can help the child reach his or her potential.

A child with Down syndrome can go to school. Special programs beginning in the preschool years help children with Down syndrome develop skills as fully as possible. Many children are helped with early intervention and special education. They can also enter a regular classroom. Many children will learn to read and write. They can take part in childhood activities, both at school and in their community.

Your child may need physical, occupational, and speech therapy to help with his or her development. Talk with your healthcare provider, other families, and national Down syndrome support agencies to learn what to expect with Down syndrome. You can also learn what may be helpful in raising a child with Down syndrome. 

Special work programs are designed for adults with Down syndrome. Many adults with this disorder can hold regular jobs. More and more adults with Down syndrome live semi-independently in community group homes. They take care of themselves, do household chores, develop friendships, do leisure activities, and work in their communities.

Some people with Down syndrome marry. Most men with Down syndrome cannot father a child. In any pregnancy, a woman with Down syndrome has a 1 in 2 chance of conceiving a child with Down syndrome. Many of the pregnancies are miscarried.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

Symptoms that don’t get better, or get worse

New symptoms

Key points about Down syndrome in children

Down syndrome (trisomy 21) is a genetic disorder. It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing.

A mother’s age at her child’s birth is the only factor linked to the risk of having a baby with Down syndrome. This risk increases with each year of age, especially after age 35.

There is no reason to believe parents can do anything to cause or prevent Down syndrome in their child. Researchers don’t know how to prevent the chromosome errors that cause this disorder.

Down syndrome can often be diagnosed before birth. After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also take a blood sample.

There is no cure for Down syndrome, but treatment is available to help your child.

Your child may need physical, occupational, and speech therapy to help with his or her development. Many children are helped with early intervention and special education.

Tips to help you get the most from a visit to your child’s healthcare provider:

Know the reason for the visit and what you want to happen.

Before your visit, write down questions you want answered.

At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

Ask if your child’s condition can be treated in other ways.

Know why a test or procedure is recommended and what the results could mean.

Know what to expect if your child does not take the medicine or have the test or procedure.

If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Related Links

• Brain and Behavior Center
• Autism Services

Mosaic Down Syndrome

Translocation Down Syndrome

• Center for Down Syndrome

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January 2023

George always surprises us. If he can’t do something he finds his very own way of achieving what he wants. He is resilient, loving and humorous.

George was diagnosed with Down’s syndrome at birth and ASD at 3 and a half years old.

He is non verbal and still in pads. He needs support with everything and constant supervision. He is now 18 and on the cusp of moving from school to college. George understands more than people presume and listens to far more than anyone expects!

He loves people and will show love or fondness for his familiar adults through hugs and touch and beautiful high pitched joyful sounds.

He does find some things difficult like transitioning from one activity to another. But his emotional regulation is improving as he matures.

He doesn’t yet have a form of communication which has worked for him but he consistently finds a way to let us know what he wants and what he feels.

Although life is often stressful, it is also deeply meaningful. You don’t need words to say ‘I love you’.

The DSA offered many training session which I attended when George was little. When he first received his dual diagnosis one of the Information Officers gave me articles to read so I could begin to understand our new trajectory.

Also the online monthly Down’s syndrome with complex needs group is invaluable and allows me feel part of a community which understands me and which I can in return offer support to. Finding where you belong is very important when you realise your child/young person doesn’t resemble a person with Down’s syndrome alone.

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Down Syndrome: A Case Study

2012, UMAK Graduate School

Intellectual Disability is a form of developmental disability in which person’s intelligence and abilities to adjust to various situations and environment are below what expected of his or her age. A child with mental retardation may experience difficulty in learning, developing new skills adapting to various social conditions, communicating and excelling in the standard academic environment.

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The historical-cultural theory of Intellectual Disability (DI) overcompensation/compensation is referenced in several studies, but little empirical evidence is presented to corroborate this thesis. In this work, 13 current studies were analysed about the behavioural profile of people with Down syndrome (DS), a case of neurobiological ID, published in the last 15 years, in order to verify the possibility of dialogue with the theorizing about compensation. Despite contributing to an up to date understanding of DS, the results point to similarities between different scientific traditions allowing discussions regarding methodologies, data interpretation, language comprehension, and the impact of the studies for school inclusion and the development of people with ID/DS. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed to the affective motivators/emotions of t...

Down Syndrome Research and Practice

Markus Kaski

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The historical-cultural theory of Intellectual Disability (ID) overcompensation / compensation is referenced in several studies, but little empirical evidence is presented to corroborate its thesis. In this work, current studies on Down syndrome (DS), the most studied worldwide neurobiological occurrence of ID, were analyzed establishing a dialogue with compensation theorization. Apart from contributing to an up-to-date understanding of DS, the study points to similarities between different scientific traditions, allowing discussion of methodologies, data interpretation, language comprehension, as well as the impact of studies for school inclusion and the development of ID / DS people. It is concluded that the theorization in question is pertinent to developmental studies, dialogues with other perspectives and that its progress depends on investigations directed towards the affective motivators / emotions of the person with ID / DS by means of more dynamic systems perspectives and interpretative methodologies.

Tuomo Määttä

QUEST JOURNALS

The term Intellectual Disability will be used in this study to avoid confusion between the words mental retardation and mental illness. Intellectual disability is a complex and multi-dimensional problem. Many people have a wrong conception that intellectual disability is a disease. But the fact is that it is a condition rather than a disease. Developmental milestones of children with intellectual disabilities are characterized by delayed development. Disabling conditions are challenging for their survival and personality development. They are differently able and their needs are special which requires special care, education, rehabilitation and protection. Inclusive policy and mainstreaming services requires proper strategy from management and stake holders to create opportunities and boost up children's morals. Research study on intellectual disability may help developing plans and programmes by surfacing more relevant data to the researchers and service providers. The objectives of this study are to know the causes of intellectual disability and family's economic background and to suggest measures for its intervention.

Leslie Rubin

Intellectual disability (ID) is the term used to describe a condition defined by limits in cognitive and adaptive abilities that affect function and initially manifest before 18 years of age. This term supplanted the earlier term ‘mental retardation’ within the past two decades. The term developmental disability (DD) was coined de novo in the 1970s when the Developmental Disabilities Act of the US Congress was passed. While an ID is determined by formal psychometric testing to assess the intelligence quotient and adaptive functioning, the term DD is more generic and may include elements of physical limitations in addition to the ID. Both terms are often used interchangeably and have been blended into the term intellectual and developmental disabilities (IDD) to be inclusive for or all individuals who have limitations in cognitive as well as physical functions that are: based on central nervous system dysfunction, manifest in the childhood years, and have lifelong implications. Our g...

Simon Whitaker

I have been a clinical psychologist working in what we now call intellectual disability (ID) for the past 25 years. Over this time I have become increasingly concerned about how the concept of ID is defined and understood by others. It seems to me that ID is often seen as a discrete entity that can be easily identified. This, together with an increasing trend towards specifying criteria for services, has led to many people who are in need of a service being refused one on the grounds that they do not have an ID.

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Case Study of 17-year-old with Down syndrome

SC is a 17-year-old with Down syndrome. In addition, she has been diagnosed with sensory processing disorder, social anxiety disorder, psychosis, developmental regression and more. The Listening Program® was combined with vision therapy to help her overcome her developmental deficits.

After just a few months using The Listening Program, her therapist noticed “a more grounded and stable sensory integration and processing ability.” Her psychologist noted “improved nonverbal Rand verbal communications… decreased aggression… drastic improvement in clarity of thinking.

Date: October 2017 Provider: Dr. Roger Dowis, OD FCOVD   Boulder, CO Client: SC, Female, 17 years old Clinical Diagnosis: Down syndrome, Sensory Processing Disorder, Social Anxiety Disorder, Unspecified Psychosis, Developmental Regression, Mixed receptive-expressive Language Disorder, Expressive Language Disorder, Lack of Coordination

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The Jeyes and Newton (2010) study with the Down syndrome population addressed benefits of using the use of The Listening Program® to achieve improvements in auditory processing and speech and language skills since children with Down syndrome are known to have auditory processing and language development difficulty (Jeyes and Newton, 2010).

The purpose of this case study is to describe the use of combining The Listening Program and vision therapy as an intervention for, or as a means of addressing the needs of SC, a teenager with Down syndrome, to overcome her sensory integration and processing deficits and social anxiety disorder.

SC was born with Down syndrome and congenital ASD/VSD heart defects, which were repaired at three months of age. SC later developed a heart block and required a pacemaker implant. SC has had four sets of ear tubes due to continual ear infections early on in her life. Due to sleep apnea, SC had her tonsils and adenoids removed.

Due to SC’s Social Anxiety Disorder, SC would not generate an appropriate communication voice volume and needed much more time to warm up with people. The discharge note from 06/09/2015 TCH Speech and Language Therapy gives an insight into SC’s Social Anxiety Disorder: SC “has participated in nine sessions of short term, individual speech-language therapy. During the first six weeks, SC’s spoken language was minimal. She appeared highly anxious (i.e., keeping her head down, looking away from the therapist, disengaging in tasks) and spoke very little. When she did speak, her spoken output was very quiet and less than 40% intelligible to therapist in known context. During our 6th session of therapy, SC began to independently speak using full sentences. In addition, she did an excellent job increasing her voice volume when a visual “voice chart” reference was implemented.

Ongoing concerns remain regarding SC’s ability to maintain a successful mode of communication in new environments and when engaged with unfamiliar communication partners. Because of this, SC’s mother has been strongly encouraged to continue to explore use of the TouchChat or other ACC devices. SC was referred to a center where she could have longer term speech, occupational and physical therapy.

One of the congenital effects of Down syndrome is the musculoskeletal low or weak muscle tone, hypotonia, accompanied by ligaments that are too loose, ligament laxity (Down syndrome: Musculoskeletal Effects-OrthoInfo – AAOS, n. d.). Since hypotonia and ligament laxity is common in Down syndrome, we should also pay attention to needed exercises to strengthen the muscles in the eye to assure visual input accuracy. In the case of SC, mom had strabismus which was corrected at a young age.

In the 2014 article Visual Status of Children with Down syndrome, Robert H. Duckman, OD. MA, of the College of Optometry of the State University of New York, indicates that some of the Visual Signs of Down syndrome are strabismus and cataracts, etc.

Behavioral History

At about three years of age, SC started hitting her peers at school. SC’s cognitive teacher, a well-regarded professional from the community, would indicate that SC was exhibiting sensory integration issues, which was disregarded by the school psychologist. SC would be placed away, while being included, from the peer group in school.

At a later point, a behavioral expert SC’s parents consulted with indicated that at three years old, there is an increase in academic demands; therefore, at that point SC, with her sensory integration and processing deficits, and her tactile defensiveness, etc., should have been placed in a one-to-four or two-to-six classroom placement.

The behavioral hitting continued in SC’s schooling experiences. SC’s tactile defensiveness would increase as her anxiety would increase, and SC’s hitting would be harder, as the school year would progress. The mother took SC to the Boulder Community Hospital where the mother was informed that SC had sensory integration issues by the OT. Also, the parents took SC to the Star Center where the parents were informed that SC had Sensory Processing Disorder, a diagnosis which is yet to be recognized by the DSM. SC’s parents decided to home school SC.

SC went for a short period of time to high school. This was the first time that SC was in a contained classroom, instead of being included. SC would appear to be very frustrated after school, and would at times do self-harming and other mal-adaptive behaviors like: hitting her forehead against the wood floor, slamming doors, tossing dining room chairs, hitting herself on the face until bleeding, etc. SC’s parents decided to home school SC once again.

In November 2015, SC was formally diagnosed with Unspecified Psychosis and Developmental Regression. SC qualified for the Children’s Extended Services (CES) waiver. From that point on, mom was primarily working, with the help of support from the CES waiver, on: getting SC’s speech back after her self-advocacy had regressed (as if she felt silenced and could no longer advocate for herself); keep SC busy so that she doesn’t drift into her own world; challenge SC’s fears; get SC back to her morning, pre-bed time, and night-time routines with accommodations, and modifications (not her normal way); etc.

By the summer of 2016, SC was doing much better with her fears: sleeping in her room upstairs, with mom sleeping in the trundle bed; mom did not have to be within her eyesight all the time like before; decline in panic attacks, no longer having the extreme panic attacks she used to have; and working well with the respite provider.

During the summer of 2016, with much reservation from mom, SC went to summer camp with prevention/handling strategies to deal with mal-adaptive behaviors while in Camp. For precaution purposes, due to her history of aggression towards young children, mom proposed the protocol of including SC in camp with the older campers, and avoiding exposure to young children as much as possible. A few incidents happened at camp, but the overall experience was positive.

In July 2016, SC went to Orlando with her mom and older sister to the 2016 National Down syndrome Congress Convention. Her mother still was apprehensive, not knowing how SC would behave.

During the conference, mom learned from a speaker at the conference, a psychologist from Barcelona, that it is very important to work on one’s self-concept and the identity from very early in life. Flórez et al. (2015) indicate that crises of identity in adolescence are frequent and that can lead to psychotic outbreaks or decompensation followed by loss of contact with reality; this is why it is so important to work on the identity from a young age. In the adult world, the identity is tightly linked to responsibility, to greater autonomy, and making decisions (each one according with their possibilities). The role of labor is important as well, as entering the labor world means entering in the adult world (Montobbio, 1995).

Again, a few incidents happened during that Orlando trip, even with all the precautions that were in place, but the overall experience was positive.

Prior treatment, since early intervention, consisted of speech therapy, occupational therapy, physical therapy, music therapy, tutoring interventions, some vision therapy, etc. which did not appear to impact SC’s need for overcoming her sensory integration and processing deficits and her need to overcome her social anxiety disorder.

SC has been receiving psychological help for her social anxiety disorder from the SIE Center for Down syndrome at The Children’s Hospital. SC would have problems and react, her fear response, mostly in a fight mode, versus a flight mode, to her fight or fight triggers such as:

• When SC feels that someone is staring at her fixedly with a neutral face or not smiling (SC calls this a “mean mad face”)
• When someone doesn’t want to play with her or when SC is trying to connect/communicate with the other child or when SC is feeling jealous when the other child is giving the attention to another child and not to her.
• Coming from behind, without warning. For example, children approaching in a group from behind after recess.
• You have to verbally ask for permission before kissing or hugging her. You have to ask for permission before doing anything that touches some part of her body, by example, brushing her hair, brushing her teeth, etc.

Other triggers are found:

• Children (boys rough play) hitting and yelling to each other
• Yelling and staring at her
• When SC feels that the work is hard when she is tired, or has not been introduced several times to the task. Note that she has lost the love for learning since the last elementary public school she was in.
• When she doesn’t want to work (e.g. academic work) or wants to leave classes (e.g. music and art classes at school). Note that the classes might be boring or not interesting to her.
• When going from a lighted area into a shaded area has been found to be another trigger (e.g. In the Museum of Natural History in a setting where they had the children going into a cave-like situation; e.g. when going hiking when entering the wooded area where there is more shadows.) – Note that for this trigger, SC reacts in a flight mode.

SC’s social anxiety disorder, not able to verbalize, needing to overcome her sensory integration and processing deficits and visual impediments (not reading visual information properly) caused SC to misread many visual cues, and resort to maladaptive behaviors.

After her unspecified psychosis manifested itself as SC being afraid of monsters following her, and attacking her from behind; having terrible panic attacks where SC would run frantically from one side of the house to the other, from upstairs to downstairs, looking for her mom for protection; and after losing a front tooth from tripping after a panic attack, SC’s parents had no choice but to consult with a psychiatrist and start SC on psychosis medication. Together with medication, there was a need to work with the psychologist to help SC conquer her fears, such as getting into the shower, going upstairs in the house (where her bedroom happens to be), falling asleep, etc. Slow, incremental exposures to her fears were done with big rewards after satisfactory completion of the given exposures.

Since SC’s psychosis and regression were diagnosed, SC’s family started getting more help thanks to the Children Extensive Services waiver, which covered behavioral help from The Brain Center. The Brain Center, among other parts in the treatment, used The Listening Program® (TLP) Spectrum and Brain Builder® products from Advanced Brain Technologies. SC’s vision therapy sessions were also covered by the CES waiver.

The Brain Center Executive Director facilitated having mom’s training and the TLP SPECTRUM being covered by the CES Waiver. Therefore, mom became a TLP provider.

SC began the sound stimulation program TLP Spectrum with the WAVES bone-conduction headphones at home almost concurrently to starting her vision therapy program. SC started with TLP at home, listening to only one module daily for a while. Mom re-started the TLP program completely, on 09/18/2016, since mom did not know which the last module SC listened at The Brain Center was. SC is now in TLP’s Condensed Schedule Cycle 4. Mom is planning to continue using The Listening Program indefinitely.

SC’s ability to acquire visual information accurately was evaluated on 08/22/2016 by Dr. Jen Simonson, OD, FCOVD. Clear eyesight, focusing ability, eye alignment, and tracking skills are all important to acquire visual information and are called “acquisition skills”. These skills require the efficient use of our eye muscles (six extra-ocular muscles surround each eye to control eye movement, two muscles regulate the amount of light entering the eye, and one muscle adjusts the focusing lens inside the eye). Proper coordination of these skills is necessary to see something clearly, easily, accurately, and as a single image. SC’s abilities in these areas were:

VISUAL ACUITY (clarity of eyesight) Distance visual acuity was 20/30, reduced in ability. Near visual acuity was 20/20, adequate.

FOCUSING ABILITY The eyes must use a different set of abilities to focus on objects nearby than they use to see clearly at a distance. A muscle inside the eye (ciliary body muscle) must constrict so that the lens inside the eye bends the appropriate amount. If this focus cannot be maintained for any length of time, words will become blurry, loss of place may occur, and visual discomfort may be noticed. The ability to maintain focus for near work, the ability to relax focus to see clearly at distance, and the ability to change focus easily from far to near were all reduced.

BINOCULAR STATUS (eye teaming ability) The human visual system is designed so that the two eyes work as a team. The accuracy of clear, single vision and the presence of depth perception depend on a person having these skills. If the information from the two eyes does not match, the brain may ignore the information coming into one eye (suppression), or experience double vision. Depth perception, although present, was considerably reduced when compared to expected norms. Suppression and instability of the left eye were present. Eye alignment testing showed exotropia – a type of strabismus (eye turn) where one eye turns outward toward the ear. Convergence, the ability to turn the eyes inward the appropriate amount, was also reduced.

EYE MOVEMENT ABILITY (eye tracking skills) To accurately and quickly obtain information with the least amount of effort, the eyes must be able to scan with speed and control. When these eye movements are slow, clumsy, or uncoordinated, the amount of information obtained will be reduced. The types of tracking skills evaluated were: FIXATIONS – the ability to keep the eyes steady on a target; PURSUITS – slow smooth eye movements used when following an object like an airplane across the sky or following the ball in sports; SACCADES – the eye movements used while reading. They require small voluntary jumps from word to word easily without making extra eye movements. Each of these tracking skills were reduced in ability.

A program of vision therapy was recommended, which included weekly office sessions, and home exercises to be performed daily. On 09/01/2016 was SC’s first vision therapy session. Starting on 09/18/2016, with TLP at home, and vision therapy, we were combining the two strongest senses, hearing and vision, which give input to our bodies from our outside world, developing and enhancing them simultaneously.

Summary of Changes

After starting The Listening Program and vision therapy, in September 2016, by the November 2016 to December 2016 timeframe, SC exhibited a more grounded and stable sensory integration and processing ability. She was able to brush her hair twice daily (in her morning and nighttime routines), expressed less tactile defensiveness, and showed a decline in maladaptive behaviors like hitting. Mom started noticing an increase in verbalization and personal confidence, and a decline in social anxiety. For example, when ordering food at a restaurant before, with much anxiety, SC could only point to the items she wanted, whereas now she can order each item she wants with confidence, with the right tone of voice and much more understandable. Now mom is more concerned with issues around SC’s psychosis, her period (affecting her psychosis), her regression, other medical issues, side effects of the psychosis medication like weight gain, her willingness to be present, and her fear of falling asleep among others.

Nevertheless, for precaution purposes due to her history of behavior, mom will continue with the protocol of including SC in adult or senior classes, and avoiding exposure to young children as much as possible.

Other examples of changes observed are:

• At the therapy center where SC receives her therapy, instead of hitting a little boy when she was upset, she instead would tell the Speech Therapist that she is sad that the boy doesn’t want to play with her.
• At Boulder Valley vision therapy, Thursday 12/08/2016, SC read at the 3rd grade level and answered the reading comprehension questions with 80% accuracy. The therapist used the neurological impress method.
• On Thursday 12/29/2016, SC earned some headbands at vision therapy, and she has been using them in her own hair ever since. This could be an indication of how much sensory integration improvement she has made, and how much her “fight or flight” system has tapered down. SC can now brush her hair twice a day, as part of her daily morning and nighttime routines, and wear headbands and ponytails the whole day, without any problems.

SC’s psychologist commented on 04/20/2017, concerning SC’s social anxiety disorder issues, and other behavioral issues, that SC was showing “Improved nonverbal and verbal communications when in social settings; increased volume when talking and better eye contact; decreased aggression towards herself and objects; decreased refusal to complete activities of daily living; more independent with daily living skills (requiring less prompting); drastic improvement in clarity of thinking;  much better able to answer questions when asked; content of response also matches content of question better; decrease in processing time, can answer questions much more quickly when asked; more motivated to participate in group activities.”

As a result, her psychologist sessions were reduced from weekly to bi-weekly sessions.

Summary of Pre- and Post-Test Scores

The changes seen on SC in this case study are similar to the changes seen by Jeyes and Newton (2010) in their study where, after using The Listening Program with Sennheiser Headphones for two 15-min sessions, five days a week, over a ten-week period, children with Down syndrome exhibited clearer speech, more extensive vocabulary, and they were using greater number of words more effectively sequenced. This was coupled with a greater attention span, improved communication with peers and others, and overall reduced frustration felt by all parties (Jeyes and Newton, 2010).

Furthermore, after combining TLP with vision therapy in September 2016, only a few months later SC exhibited more grounded and stable sensory integration and processing. She could brush her hair twice daily and exhibited less tactile defensiveness and maladaptive behaviors. Mom started noticing an increase in verbalization and personal confidence and a decline in social anxiety in public situations. Also, see SC’s psychologist comments of 04/20/2017.

From previous clinical experience, it has been observed that combining vision therapy with The Listening Program enhances and speeds up the therapy program. As seen in the results displayed on the appended graph, SC’s visual acquisition skills have improved greatly. To see this amount of improvement in a six-month period demonstrates the power of a combined visual and music listening therapy program.

Follow-up Recommendations

SC will continue with The Listening Program Spectrum with the Waves multi-sensory bone-conduction headphones at home, combined with vision therapy.

Mom agrees with the recommendations from Jeyes and Newton (2010), and would like to point some of them, like:

• The fact that more appropriate tests need to be developed for children with Down syndrome for pre- and post-study testing
• More extensive and larger formal study is recommended to confirm the findings of the 2010 study
• Video evidence would be a useful addition

Down syndrome: Musculoskeletal Effects-OrthoInfo – AAOS. (n. d.). Web Site Citation. Retrieved April 21, 2017 from http://orthoinfo.aaos.org/topic.cfm?topic=A00045

Duckman, R. H. (2014). Visual Status of Children with Down syndrome. Optometry & Visual Performance 2(5) 240-243.

Flórez, J., Garvía, B. y Fernández-Olaria, R. (2015). Síndrome de Down: Neuropsicología, Neurobiología, Salud Mental . Madrid: Ed. CEPE, S.L.

Montobbio, E. (1995). La identidad difícil . Barcelona: Fundación Catalana Síndrome de Down.

Jeyes, G. and Newton, C. (2010). Evaluation of The Listening Program in Assessing Auditory Processing and Speech Skills in Children With Down syndrome. Music and Medicine 2(4) 208-213. New York: SAGE Publications.

Tags case study , Developmental Regression , down syndrome , Expressive Language Disorder , Psychosis , sensory processing disorder , Social Anxiety Disorder

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Coordinated care important for children with Down syndrome and congenital heart disease, say researchers

by American Heart Association

A coordinated, multidisciplinary health care team to address the specific physical, psychological and developmental needs of children with Trisomy 21, or Down syndrome, and congenital heart disease may help children with these conditions lead longer and more productive lives, according to a new scientific statement from the American Heart Association.

The scientific statement, "Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes from Birth Through Adolescence," is published today (Sept. 12) in the Journal of the American Heart Association .

Trisomy 21, also known as Down syndrome, is a genetic condition that occurs when a person has an extra copy of chromosome 21. According to the American Heart Association's 2018 scientific statement on the genetic basis for congenital heart disease, Down syndrome is the most common chromosome abnormality, with approximately 5,300 infants born with Down syndrome in the U.S. each year.

About 35%–50% of children with Down syndrome are also affected by congenital heart disease. About 70% of congenital heart disease conditions in children with Down syndrome present as some type of atrial septal defect or ventricular septal defect of the heart, often referred to as "a hole in the heart."

Pulmonary hypertension and single ventricle heart disease are two known cardiovascular conditions that may reduce life expectancy in individuals with Down syndrome. Conditions affecting other body systems, including respiratory, endocrine, gastrointestinal, hematological, neurological and sensory systems, may interact with cardiovascular health concerns and lead to adverse effects for children with congenital heart disease and Down syndrome.

Improvements in diagnostic, medical and surgical interventions for cardiovascular disease over the past several decades have resulted in greatly improved survival for infants and children with congenital heart disease including those with Down syndrome.

Current research on survival in children with congenital heart disease indicates that more than 97% of children with congenital heart disease can be expected to reach adulthood, highlighting the need for multidisciplinary care throughout their lifetime.

Neurodevelopmental and functional challenges may also affect quality of life for children with Down syndrome and congenital heart disease. About 75% of children with these conditions experience feeding and swallowing problems as infants, increasing the risk of malnutrition and failure to thrive, which would affect physical and neurologic development. They also often face lifelong respiratory problems and hypothyroidism (an underactive thyroid ; the thyroid produces important hormones that help regulate many functions in the body).

Vision and hearing impairments (sensory processing disorders) are also common among children with Down syndrome and may impact development of language and communication, as well as cognitive and social behavior skills. Psychological conditions, including autism spectrum disorder , attention deficit/hyperactivity disorder, anxiety and depression, are also common in children with Down syndrome as well as children with congenital heart disease.

Social determinants of health may affect outcomes in children with Down syndrome and congenital heart disease because intellectual limitations and chronic health conditions often contribute to discrimination, bias, inequity, education and socioeconomic status.

Physical, occupational, speech and behavioral therapies are integral in health care plans for children with Down syndrome and congenital heart disease. Early speech intervention is important to improve communication and autonomy, while physical and occupational therapy are focused on strengthening gross and fine motor skills , increasing independence in activities of daily living, and supporting social skills and sensory integration.

A comprehensive "medical home" with primary and specialty care that includes a multidisciplinary team of professionals is advised to support care continuity, family-centered care and advocacy. Effective care coordination improves health care access and reduces delays in care, hospitalizations and health care costs. It can also result in enhanced care satisfaction and improvements in overall health outcomes.

With appropriate support and resources from the multidisciplinary care team, community, school and family, children with Down syndrome and congenital heart disease have opportunities to live fulfilling and productive lives with independence. It is important that the transition to adulthood includes assessment of their needs, skills and decision-making capacity.

Future research focused on reducing the burden of these conditions is needed to improve functional outcomes and quality of life for children with Down syndrome and congenital heart disease .

The statement was written on behalf of the American Heart Association's Pediatric Cardiovascular Nursing Committee of the Council on Cardiovascular and Stroke Nursing, the Council on Clinical Cardiology, the Council on Genomic and Precision Medicine, and the Council on Cardiovascular Radiology and Intervention.

American Heart Association scientific statements promote greater awareness about cardiovascular diseases and help facilitate informed health care decisions. Scientific statements outline what is currently known about a topic and what areas need additional research. While scientific statements inform the development of guidelines, they do not make treatment recommendations.

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Strategies to address challenging behaviour in young children with Down syndrome

Kathleen Feeley, and Emily Jones

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with the Down syndrome behavioural phenotype, increased incidence of illness and sleep disorders, and the way in which individuals in their environment respond to their behaviours. In this paper we describe the use of behaviourally based intervention strategies to address some of the specific challenges often seen in young children with Down syndrome. Through a series of case studies, the effectiveness of evidence-based interventions addressing challenging behaviour is demonstrated.

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Feeley, K, and Jones, E. (2007) Strategies to address challenging behaviour in young children with Down syndrome. Down Syndrome Research and Practice , 12(2), 153-163. doi:10.3104/case-studies.2008

At increasing rates, children with Down syndrome are being provided with the same life experiences as their non-disabled peers. More children with Down syndrome are fully integrated into the activities of their family and, in many communities, it is commonplace for children with Down syndrome to be integral members of their schools, neighbourhoods, and workplaces. However, for many children with Down syndrome (as is the case with other disabilities as well), success in these environments is hindered by challenging behaviour, defined by Doss and Reichle as behaviour that results "…in self-injury or injury of others, causes damage to the physical environment, interferes with the acquisition of new skills, and/or socially isolates the learner"[ Ref.1, p.215 ].

For many parents, researchers, and practitioners familiar with children with Down syndrome, challenging behaviour is a common occurrence. Children with Down syndrome are often described as "stubborn" and "obstinate." In fact, references to challenging behaviour have historically been seen in the clinical literature and continue to exist today. For example, children with Down syndrome show higher rates (than typically developing children) of attention problems, social withdrawal, noncompliance, and compulsions (such as arranging objects and repeating certain actions) [ 2 , 3 ] , as well as high rates of self-talk [ 4 ] . With increasing age, behaviours associated with anxiety, depression, and withdrawal also increase [ 5 ] . Finally, recent research has indicated a pervasive pattern in children with Down syndrome, present from infancy, of escape and attention motivated challenging behaviours involving noncompliance and misuse of social behaviours [ 6 , 7 ] .

The early onset and distinct presence of challenging behaviour has resulted in its inclusion as part of the behavioural phenotype (i.e., a unique pattern of strengths and weaknesses) that characterises Down syndrome [ 8 ] . Several other factors, specific to children with Down syndrome, including sleep disorders [ 9 , 10 ] and increased incidence of illness [ 11 ] , may also increase the likelihood of challenging behaviour in children with Down syndrome [ 12 ] .

Fortunately, substantial empirical research demonstrates the effective use of behaviourally based procedures to assess and intervene on challenging behaviour in individuals with developmental disabilities (across the ages). However, close examination of the behavioural intervention literature reveals relatively few applications with children with Down syndrome and even fewer applications targeting the specific and characteristic challenges presented by these children. Over the past several years, we have successfully utilised behaviourally based intervention procedures to address challenging behaviour in young children with Down syndrome. In all instances, we substantially reduced the extent to which the children engaged in targeted challenging behaviour, resulting in enhanced performance in inclusive settings.

To illustrate the use of behaviourally based interventions with children with Down syndrome, we selected five case examples that reflect commonly occurring challenging behaviours among children with Down syndrome. The cases are categorised according to the type of intervention strategy. Specifically, intervention strategies addressing setting events and immediate antecedents, teaching replacement skills (e.g., communication, academic, social), and/or utilising consequence strategies (e.g., reinforcement) are illustrated. The reader is referred to Carr et al. [ 13 ] , Feeley and Jones [ 12 ] , and Reichle and Wacker [ 14 ] for more complete discussions of intervention strategies. It is important to note that for each of these case examples, functional assessments were conducted prior to the start of intervention. A functional assessment involves the identification of setting events, antecedents, and consequences associated with the occurrence of challenging behaviour resulting in a hypothesised function regarding the maintaining consequences for that challenging behaviour. The reader is referred to O'Neill, Horner, Albin, Storey and Sprague [ 15 ] for a description of functional assessment procedures.

Strategies to address setting events

Events occurring more distally in time from the occurrence of challenging behaviour, or not directly related to the immediate antecedents or consequences of challenging behaviour, can affect its likelihood of occurring [ 16-18 ] . Such variables have been referred to as both motivating operations [ 17 ] and setting events [ 18 ] and are described as events that occur "…at one point in time [that] may change the likelihood of a targeted behaviour at a later point in time by momentarily altering the value of consequences" [ Ref.19, p.382 ]. Examples of such events that are likely to influence behaviour include a change in schedule, illness (e.g., allergies, virus), and sleep problems [ 20 , 21 ] . For children with Down syndrome, it is particularly important to consider setting events, because at least some known setting events such as sleep problems [ 9 ] and illnesses [ 11 ] , occur at higher rates in children with Down syndrome, and are, therefore, likely to influence the occurrence of challenging behaviour [ 22 ] .

Interventions can be designed to specifically address setting events. To begin, it is important to establish that a relationship exists between the setting event and the child's engagement in challenging behaviour, by, for example, recording both the occurrence of the setting event(s) of concern and the child's behaviour. Consider a particular child whose challenging behaviour may be directly associated with the onset of an illness. The child's caregivers note the extent to which the child experiences symptoms of a specific illness (e.g., runny nose, fatigue, loose bowel movements) and then, they, as well as other caregivers (e.g., educators), note the occurrence of challenging behaviour. A relationship between challenging behaviour and a setting event is suggested if higher frequencies of challenging behaviour occur on the day/time(s) when the symptoms of illness were present.

Once it has been determined that a relationship exists between the setting event and challenging behaviour, a mechanism for caregivers to share with other caregivers (e.g., school personnel) when a child has experienced a particular setting event (e.g., lack of sleep, missed meal, parent away on a business trip) can be developed. A checklist, note, or regular phone call between caregivers can be used to communicate the occurrence setting event(s). This allows for the consideration of several interventions designed to ameliorate the effects of the specific setting event [ 20 , 23 ] . For example, in the presence of the setting event (e.g., day on which the symptoms of an illness start to become apparent), corresponding interventions may be implemented, including decreasing the likelihood of antecedents that trigger challenging behaviour and delivering higher rates of reinforcement. Both of these strategies were used with Nathan in his kindergarten class.

Nathan was a 5 year old boy with Down syndrome enrolled in a general education kindergarten class. In addition to Nathan rising very early in the morning (often just after 5:00 a.m.), he was the third of four children in a family that had a very busy lifestyle (e.g., frequent visits to extended family, attendance at numerous athletic events of older siblings). Nathan's classroom staff began to notice that, on some days, Nathan appeared tired and had a tendency to engage in challenging behaviour (e.g., noncompliance, pushing educational materials away). Subsequently, they recorded the occurrence of Nathan's challenging behaviour. At this point, Nathan's parents were asked to place a note in his communication book (i.e., a small notebook dedicated to correspondence between the school staff and Nathan's parents) to indicate whether Nathan had a full night's sleep the previous evening. Within a short period of time, Nathan's classroom staff and parents were able to verify that noncompliant behaviour (i.e., refusal to respond to simple requests) occurred more often during academic tasks (e.g., letter identification, counting) on days when Nathan did not get enough sleep the evening prior.

Intervention

Box 1 | an excerpt from nathan's communication notebook prior to intervention.

Nathan had a very difficult time in resource room today. He kept asking to go home (he didn't feel warm) and became very noncompliant after a simple request. Do you think Nathan was just a little off today? Or maybe something else?

Nathan's education team implemented a package intervention to address the setting event, lack of sleep. Nathan's parents continued to either write a note in the communication book or phone the school with a message for Nathan's teaching assistant indicating when Nathan did not get enough sleep. On the days Nathan did not sleep enough, the classroom staff decreased academic demands and increased access to highly preferred activities. Specifically, Nathan's teachers asked him to complete fewer tasks within academic activities, while at the same time they increased opportunities to play "games" in which instructional targets were incorporated. For example, instead of completing a workbook page of counting tasks, Nathan was engaged in a table top bowling game during which he counted the number of pins. This allowed his interventionist to continue to work on academic skills, however, because it was done within an activity that was highly preferred, Nathan did not engage in challenging behaviour. Additionally, interacting with Nathan in this manner (fewer task demands and increased access to preferred activities) resulted in Nathan receiving an increased rate of reinforcement. Thus, there were many more opportunities for staff to praise (i.e., verbally or with a high five or handshake) than would have been typically delivered had these specific strategies not been in place.

Nathan's parents and teachers continued to document in his home-school communication notebook the occurrence of disruptions in sleep and challenging behaviour.

Box 2 | Excerpts from Nathan's communication notebook during intervention

Nathan didn't get much sleep last night. We were out late and he was up very early (5:00). We hope his (and your) day goes smoothly.

Thanks for the note. Nathan did seem tired early on, but he had a great day. While in resource room, we played the matching game. Have a nice afternoon.

Box 1 depicts an excerpt of anecdotal information when setting event intervention strategies were not implemented. As illustrated in the note from Nathan's teaching assistant (Rachel) to Nathan's mother (Ellen), Nathan had a very difficult day. On this day, Nathan had not slept well the night before, however school staff were not informed, and intervention strategies to prevent challenging behaviour were not implemented.

Box 2 depicts Nathan's mother (Ellen) alerting Nathan's teaching assistant to the fact that he had not slept well the night before.

After receiving the note that Nathan did not sleep enough the night before, Nathan's teaching assistant (Rachel) indicates they played a matching game instead of engaging in the typical academic demands (antecedents for challenging behaviour when Nathan had not slept well). As well, Nathan had a "great day." Because of their effectiveness, Nathan's classroom staff continued to use these setting event intervention strategies throughout the remainder of the school year noting that they resulted in substantial improvement in Nathan's behaviour.

Additional applications

There are some events, such as sleep disorders and illnesses, that have a high incidence of occurrence in children with Down syndrome, and therefore, should be given careful consideration when addressing challenging behaviours. In addition, there may be very individualised setting events (e.g., death in the family, transition to new school) that increase the likelihood of challenging behaviour in specific children. Thus, both of these types of setting events should be carefully monitored.

When setting events occur outside of the school setting, as happened with Nathan, communication between home and school is an important component of effective intervention. However, caregivers may not be in a position to report such events. Although this presents a particular challenge, interventionists can begin to look for precursor behaviours that may be associated with the occurrence of the setting event and challenging behaviour. For example, if Nathan's parents were not able to regularly communicate about his sleep patterns, interventionists might look for signs of insufficient sleep when he arrives at school (e.g., dark circles under Nathan's eyes, slouching in his seat on the school bus). Additionally, if the child has sufficient communication skills, upon arrival at school he/she can be asked about the occurrence of the setting event (e.g., "Did you sleep well last night?" "What time did you wake this morning?"). If the child's communication skills are limited, interventionists may develop graphic representations of setting events to communicate their occurrence (e.g., a photo or drawing depicting a person who is overly tired).

Antecedent based strategies

Similar to setting event intervention strategies, antecedent intervention strategies [ 24 ] are implemented prior to the occurrence of challenging behaviour in an effort to decrease the likelihood that challenging behaviour will occur. To implement antecedent based strategies, a functional behaviour assessment should be implemented in which the challenging behaviour and associated environmental events (both antecedents and consequences) are documented. That is, throughout the time period of concern (e.g., academic lesson, transition from one place to another, at home during mealtime), data are recorded, including the activity and specific events that occurred just prior to the occurrence of challenging behaviour (e.g., type of request made, by whom, etc.). This information can reveal when the challenging behaviour is likely to occur. For example, on several occasions, following a request (antecedent) to put his belongings (e.g., lunch box, jacket) in the coat closet, Tim refused and dropped his belongings to the floor (behaviour), resulting in his teacher putting them away for him (consequence). Each day, when another child, Meredith, was asked to clean up after snack (antecedent), she responded by crying (behaviour), which resulted in her classmates cleaning up for her (consequence). Thus, a functional assessment reveals a pattern of particular antecedents (e.g., requests) that reliably predict specific challenging behaviours (e.g., noncompliance, dropping to the floor, crying).

Once the specific antecedents associated with challenging behaviour have been identified, several strategies can be implemented just prior to the delivery of the antecedent, preventing challenging behaviour from occurring. The research literature has demonstrated the effective use of a number of antecedent strategies [ 24 ] , two of which were used with Cody in his preschool.

Cody was a 3 year 10 month old boy with Down syndrome who attended a preschool programme where he received a combination of intensive instruction and participation in an integrated preschool class in which half of the children had mild disabilities and half were typically developing. In his preschool class, Cody had a tendency to engage in challenging behaviour that consisted of refusal to comply with teacher requests (i.e., ignoring the requests and dropping to the floor). A functional assessment revealed Cody engaged in noncompliant behaviour often accompanied with dropping to the floor when his teachers requested that he transition from one activity to another (i.e., the antecedent). In many instances, following engagement in the challenging behaviour, Cody ultimately avoided transitioning to the next activity.

Cody's education team chose to implement two different antecedent interventions prior to requesting that Cody transition. One of the interventions, prespecified reinforcer [ 25 ] , involves informing the child what she/he will receive upon completion of a specific task (in this case, the transition). For Cody, the reinforcing items (e.g., computer games, stickers, crayons, and bubbles) were chosen based upon the specific transition. For example, Cody consistently engaged in challenging behaviour when asked to come in from the playground. As a result, one of his favourite activities in his classroom, playing on the computer, was prespecified prior to requesting him to enter the school (e.g., "Cody, we have your favourite game all ready for you to play on the computer. Quick let's get on line and go inside so you can take a turn.").

Another intervention, preferred item/activity as a distractor, involves offering the child a preferred item to distract him/her from the aversiveness of the request [ 26 ] . For example, when transitioning between locations within the classroom, Cody's teacher asked him to carry supplies (the preferred item) from one instructional centre to the other. When transitioning between rooms, Cody's teacher asked him to be the "Whistle Blower" (i.e., the student who blows the class whistle in order to gain the students' attention). The use of either the prespecified reinforcer or preferred item as distracter strategy was at the teachers' discretion and was typically based on the availability of preferred items to serve as distracting stimuli during the transition.

Figure 1 | Percentage of transitions during which Cody did not display challenging behaviour.

The effect of these intervention strategies on Cody's challenging behaviour is illustrated in Figure 1 . Data were recorded during five specific transitions both within and outside of his classroom each day (i.e., moving from free time in the classroom to group lessons, between three different centres within the classroom, and from the playground to the classroom). During baseline, Cody complied with only 0-20% of transitions. During intervention, compliance increased to 80-100% of transitions. Over time, Cody's classroom staff were able to fade the use of the interventions, resulting in Cody complying with requests to transition (in the absence of any intervention techniques) without engaging in challenging behaviour (labelled Maintenance in Figure 1 ).

Prespecified reinforcer and preferred item as distractor are only two of several different antecedent strategies, including choice, high probability request sequence, and offer of collaboration. Choice involves presenting the child with options prior to the presentation of the antecedent event that triggers challenging behaviour (e.g. Refs. 27-29 ). For Cody, his teachers could have provided him with a choice of centres (e.g., "Would you like to go to the drawing centre or the counting centre?") when presenting the request to transition (the antecedent) to centre time. Another antecedent strategy that could have been applied by Cody's team is that of a high probability request sequence, in which the interventionist delivers a series of requests to which the child is highly likely to comply (each followed by the delivery of reinforcement) followed by a request to which the child has a low probability of responding (e.g. Refs. 19 , 30 , 31 ). To illustrate, Cody's teacher could have asked him to complete several acts he could easily and readily perform (e.g., "Touch your nose," "Show me a thumbs up," and "Give me five") each followed by the delivery of verbal praise (e.g., "Great job Cody") and then delivered the low probability request (i.e., the request to transition, such as "Let's go to the counting centre."). An offer of collaboration entails the interventionist offering to collaborate with the child on the task which is likely to trigger challenging behaviour [ 25 ] . For example, when transitioning between centres, instead of saying, "Turn off the computer and go to the counting centre," the teacher might say, "Let's press the off button together so we can go to the counting centre."

It is important to note that antecedent strategies are most effective when used prior to the occurrence of challenging behaviour. Too often caregivers and interventionists "forget" to use the antecedent intervention until after the challenging behaviour occurs. Therefore, in order to prevent the challenging behaviour from occurring, one should remember to use them proactively, that is, prior to delivering the antecedent that is likely to trigger the challenging behaviour.

Skill building strategies

In many instances, challenging behaviour is related to the child's limited repertoire of more acceptable responses and, often, these responses are communicative in nature. For example, a child may not have the expressive language to request a break, thus, he/she may throw materials as a means of indicating he/she is finished with the activity. A child may not have an appropriate means to get a teacher's attention, thus, he/she may fidget in his/her chair so staff in the classroom will stand in close proximity. These examples illustrate instances in which children do not have a communicative response to get what they want and, thus, could benefit from being taught a replacement response (i.e., a new skill such as signing for "break" or tapping a teacher's shoulder) [ 13 , 32 ] .

In other situations, children may have appropriate communicative responses in their repertoire, but use them in situations where they are not appropriate. For example, in some situations, such as when a family member arrives at a child's house, it is appropriate for the child to greet them with a big hug. In other situations, such as when a delivery person arrives at the child's house with pizza, it is appropriate to say "Hello" and perhaps shake the person's hand, but it would be inappropriate to give the pizza delivery person a big hug. These subtle discriminations may prove difficult for children with Down syndrome. Not only do these situations require discrimination skills, they also require a large repertoire of social behaviours on the part of the child that include multiple forms of greetings (e.g., a high five, wave, and handshake), that they can use in place of an affectionate greeting (e.g., hug).

Importantly, it is not the specific response (in this case, an affectionate greeting) that is challenging, but the context in which it occurs that may make it problematic. Therefore, it is important that children with Down syndrome be systematically taught not only to discriminate when certain behaviours should be emitted, but also alternative responses so they are prepared to respond in various situations. The following case study illustrates the instruction of a greeting (i.e., handshake) to replace Michael's hugging of strangers.

Michael was a 4 year old boy with Down syndrome attending a preschool programme where he spent part of his day receiving intensive instruction and part of his day in a community preschool. Michael's family was concerned about his propensity to greet unfamiliar adult males by hugging them, both in public (e.g., patients in doctors' offices) and in his home (e.g., pizza delivery person). Michael's mother recorded his greeting behaviour in the presence of unfamiliar males in two settings: in the home when delivery person arrived and in the community (e.g., doctor's office, restaurants).

To expand upon Michael's greeting repertoire, he was taught to shake hands. Initially, Michael was taught to shake hands with individuals with whom he was familiar, within his preschool programme. Intervention took place within a discrete trial format (i.e., the presentation of multiple teacher directed instructional opportunities in close temporal proximity, with the use of specific prompts, followed by the delivery of reinforcing consequences) [ 33 ] . During intervention, a familiar adult entered Michael's instructional area, at which point his teaching assistant prompted Michael to shake hands by saying, "Michael, shake [name's] hand." When Michael responded by shaking the hand of the familiar adult, reinforcement (e.g., high five, verbal praise) was delivered. Any incorrect response (e.g., attempting to hug or climb in the adult's lap) was immediately interrupted, and Michael was physically prompted to shake hands. At least 10 intervention opportunities were conducted per school day until Michael's performance met criterion for mastery (i.e., shook the familiar adult's hand during 80% or more of the opportunities on a given day without physical prompting).

After Michael's performance met this criterion, intervention was conducted while taking walks throughout the preschool setting rather than just within his classroom. Upon approaching a familiar male (e.g., male teacher in Michael's programme, familiar parent of another child), his teaching assistant delivered the verbal prompt, "There's [name]. Michael, shake his hand." Between 3 and 5 intervention opportunities were conducted at least three days per week. Correct responses were reinforced. Incorrect responses were interrupted and Michael was physically prompted to shake hands.

Once Michael's performance met criterion (i.e., shook the familiar adult's hand on walks in his preschool on 80% or more of the opportunities without physical prompting), intervention opportunities involved unfamiliar males. Michael's teacher and teacher's assistants set up situations within the preschool in which unfamiliar males (e.g., fathers of children unfamiliar to Michael, staff who worked in other programmes within the building or who were visiting from other buildings) approached Michael and his teaching assistant. Prompting, reinforcement, and correction procedures were delivered in the same manner as during prior intervention. Due to the planning involved in these teaching opportunities, only 3-5 opportunities were provided each week. Mom reported that after intervention, Michael appropriately greeted both familiar and unfamiliar individuals at home and within his community.

There is a perception on the part of many people that children with Down syndrome are affectionate and loving. It has also been hypothesised that others respond differently to children with Down syndrome and their affectionate behaviour. Clinically, we have seen some children with Down syndrome treated differently than their peers without disabilities, such that they are permitted and encouraged to engage in affectionate behaviour that would be unacceptable from a typically developing child of the same chronological age. For example, in several educational settings, we have observed classroom staff requesting hugs from the children with Down syndrome or permitting children with Down syndrome to sit on their laps, yet these interactions did not occur with the typically developing children within the same setting. Although endearing, it is very important that children with Down syndrome be treated in a similar fashion to their non-disabled peers. Thus, not only is it important to teach children with Down syndrome appropriate behaviours in corresponding situations from an early age, but to address this differential treatment on the part of adults in their environment.

Not being taught when to refrain from engaging in certain displays of affection may also negatively affect the child's relationships with their peers. Same age peers of children with Down syndrome may not always respond well to affectionate approaches. At first, a peer may respond by saying "Move back" or "Don't hug me." If the child with Down syndrome persists, a peer may become angry and/or begin to avoid interacting with the child with Down syndrome. Therefore, specific instruction in appropriate ways to greet peers as well as how to respond to requests made by those peers is important. Finally, identifying and teaching those responses that are socially acceptable within each child's social circle (e.g., high five, thumbs up, fancy handshake) will likely prove beneficial for the child with Down syndrome.

Consequence based strategies

Once an antecedent associated with challenging behaviour has occurred, a child may either engage in the challenging behaviour or refrain from engaging in that challenging behaviour. The consequence delivered by the caregiver and/or interventionist at this juncture impacts how the child responds in the future. In past research, to decrease challenging behaviour, interventionists relied heavily on consequence strategies implemented after the challenging behaviour occurred (i.e., punishment procedures). Alternatively, interventionists can rely on positive consequence strategies, implemented when the challenging behaviour is not emitted. That is, the antecedent occurs and, if the child refrains from engaging in challenging behaviour, specific consequences are delivered that increase the likelihood the child will refrain from emitting the challenging behaviour in the future. This type of consequence strategy is termed differential reinforcement.

Differential reinforcement procedures include the use of reinforcement following the occurrence of an alternative appropriate behaviour (DRA), emitted in place of the challenging behaviour [ 34 ] and the use of reinforcement following the omission of the behaviour (DRO). The following case studies illustrate the use of differential reinforcement procedures to address escape motivated behaviour in Sam and self-stimulatory behaviour in Paul.

A strategy to address escape motivated behaviour

Given the high rates of escape motivated challenging behaviour present even in young children with Down syndrome, it is often necessary to incorporate consequence procedures so the child can benefit from educational experiences. One easily implemented application of differential reinforcement of alternative behaviour (DRA) is within a token system. A token system involves the use of a symbol or token delivered as a consequence for appropriate behaviour that can be traded for backup reinforcers [ 35 , 36 ] . As illustrated in our case example of Sam, the use of a token system can begin at a very young age.

Sam was 2 years 6 months old and was receiving early intervention services within his home. In addition to receiving physical, speech, and occupational therapy on a weekly basis, Sam received two 45 minute sessions of intervention implemented by a special educator. During these sessions, his interventionist addressed expressive and receptive communication, as well as play skills (i.e., turning the page of a book, activating buttons to play music, engaging in multi-step play sequences). During intervention sessions, Sam had a tendency to engage in behaviour that his interventionist and mother believed interfered with his acquisition of skills. During intervention activities, Sam refused to respond to the interventionist by turning away from her, covered his face, and/or threw the instructional materials (i.e., toys, pictures), resulting in avoidance of some of his intervention activities.

Sam's education team decided to implement a token reinforcement system during these intervention sessions. This involved the delivery of tokens following appropriate responses (i.e., imitating speech sounds, pointing to common objects, and imitating play behaviours) that could be traded for a backup reinforcer (e.g., access to a favourite book). Sam's team chose small pictures (4 cm by 4 cm) of Blue's Clues TM characters as tokens and, after laminating them, attached the tokens to a board with Velcro TM . Sam's mother identified several preferred items that could be used as backup reinforcers (e.g., favourite books) and his interventionist often brought toys (e.g., electronic toys, barn and animals) that also functioned as reinforcers for other target behaviours.

Initially, the goal was for Sam to earn three tokens before trading them in for access to one of his backup reinforcers. At the beginning of intervention, two tokens were placed on the board. An instruction was given to Sam (e.g., "Show me the [object name]" during receptive object identification tasks) and, as soon as Sam responded appropriately, the last of the three tokens was placed on the board. Sam's interventionist delivered verbal reinforcement (e.g., "That was terrific!") and then provided him with access to the back up reinforcer (e.g., reading him a few pages from a book). Across teaching opportunities, Sam's interventionist began with fewer Blue's Clues TM tokens (i.e., one and then zero) attached to the board at the start of the intervention session so that Sam had to respond to more teaching opportunities (i.e., two and then three teaching opportunities) prior to receiving access to his reinforcer. As Sam's challenging behaviour decreased, the number of tokens Sam was required to earn (and hence the number of teaching opportunities implemented) before receiving his back up reinforcer was increased from three to five.

The concern of Sam's mother and his interventionists was that Sam's noncompliance interfered with his acquisition of skills because it decreased the number of teaching opportunities that could be provided when so much time was spent dealing with challenging behaviour. With the token system in place, Sam's intervention sessions were more productive with an increase in number of intervention opportunities and less time spent dealing with Sam's challenging behaviour. Additionally, with increased intervention opportunities, Sam began to master skills at a faster rate. The use of the token system therefore resulted in Sam remaining on task for more intervention opportunities and spending less time engaging in challenging behaviour.

Token systems have been used extensively to address the performance of a variety of behaviours in individuals with and without disabilities. Tokens can take multiple forms. For example, they can be preferred pictures, as with Sam, whose tokens were pictures of a favourite character. In the case of a child who has difficulty attending during story time and whose backup reinforcer is colouring, the individual crayons can act as tokens. For example, for each 3 minute time period of attending during story time, a crayon (i.e., token) can be discretely placed in a box. Once the child has remained on task for the determined amount of time (e.g., 15 minutes), the box of crayons (i.e., backup reinforcer) can be given to the child for him to use. Tokens can also consist of the puzzle pieces of a picture of the backup reinforcer. In this situation, once the picture of the backup reinforcers is complete (i.e., all the pieces or tokens have been earned), the backup reinforcer itself is provided.

Another consideration with token systems is the criterion for earning the backup reinforcer. It is important to set the criterion at a point the child can achieve. For example, the child may be required to earn only 4 of the 5 possible tokens to receive his/her backup reinforcer. The use of a token system can be gradually faded, such that tokens are delivered intermittently, rather than for each occurrence of a target behaviour. For example, a child may be earning tokens for appropriately transitioning between activities. Instead of having to successfully transition on one occasion to earn each token, fading the token system might involve requiring the child to transition twice before earning a token. As the child is successful, the number of transitions can be further increased (to three, four, etc.). Eventually, the expectations might be that if all transitions are successful for the day, a token is delivered and then traded in at the end of the week.

Tokens can often be delivered in a discreet manner, an important consideration when children are in inclusive environments. Children can even learn to deliver their own tokens (called self-management) [e.g. Ref. 37 ] increasing the discreetness of the token system. For example, a child can place checkmarks (tokens) on a paper in his notebook during classroom lessons. The child may eventually be taught to judge when he/she has reached criteria for earning tokens and access his/her backup reinforcer with little adult intervention.

A strategy to address self-stimulatory behaviour

Although children with Down syndrome tend to engage in high rates of escape and attention motivated challenging behaviour, there are other challenging behaviours whose function is often related to pleasurable sensory feedback (i.e., self-stimulatory behaviour), that can become particularly problematic. Engaging in self-stimulatory behaviour may decrease a child's engagement with the environment resulting in valuable learning opportunities being missed. Additionally, self-stimulatory behaviour may result in social isolation. For example, the child may be ostracised by his peers for such behaviours (e.g., putting his hand in his mouth, making peculiar noises, or using objects/toys in an unconventional manner [e.g., waving a toy car in front of his/her eyes]).

Differential reinforcement of the omission of behaviour (DRO) is often used as a consequence strategy to address self-stimulatory behaviour (e.g. Ref. 38 ). DRO involves systematically delivering reinforcement following a specified interval of time during which the target behaviour is not emitted [ 34 ] . DRO was used with Paul to address an oral self-stimulatory behaviour.

Paul was a 3 year old boy with Down syndrome who attended a preschool programme in which he received intensive intervention for 2.5 hours each morning. In the afternoon, he attended an integrated preschool class in which half of the children had mild disabilities and half were typically developing. Paul engaged in a challenging behaviour that took the form of tongue protrusion while at the same time making a "clicking" noise. This behaviour was stigmatising, disruptive, and often precluded Paul from attending during group lessons. Paul engaged in this behaviour for 75-88% of the time he was observed during a series of his daily activities within his preschool. A functional assessment indicated this behaviour served a self-stimulatory function, that is, Paul engaged in the behaviour in the presence or absence of other individuals and the behaviour did not result in any external reinforcers (e.g., attention, access to preferred items, or escape from a task).

Paul's education team decided to implement a differential reinforcement programme in which he was not only reinforced for the absence of the behaviour (DRO), but a mild correction procedure was implemented when the behaviour did occur. DRO involved delivering reinforcement in the form of praise (e.g., "Wow, you look terrific Paul", "That's looking like a big boy Paul!") or physical interaction (e.g., high five) if Paul did not engage in the tongue protrusion and clicking during a specified time interval. The correction procedure consisted of Paul's teaching assistant placing her hand near (but not touching) his chin and saying, in a gentle voice, "uh, uh," if Paul engaged in tongue protrusion and clicking. This correction procedure was chosen because it immediately resulted in the cessation of the behaviour (while other correction procedures such as only saying "uh uh" did not have the same effect) and it was a procedure with which Paul's parents were comfortable having educational staff perform.

During baseline (i.e., prior to intervention), Paul's self-stimulatory behaviour occurred at such a high rate that a 30 second time interval was selected to begin intervention (30 seconds was the longest period of time that Paul would refrain from engaging in self-stimulatory behaviour). If Paul did not engage in tongue protrusion with clicking for 30 seconds, his teaching assistant delivered reinforcement in the form of verbal praise (e.g., "Wow, you're a handsome guy", "You look terrific," and/or physical interaction, such as rubbing his arm or giving him a high five). If the behaviour did occur, Paul's teaching assistant immediately placed her hand near his chin and, in a quiet voice said, "uh uh," and Paul did not receive reinforcement for that 30 second interval.

As Paul's tongue clicking behaviour decreased when reinforcement was delivered at 30 second intervals, the interval was increased to 60 seconds. Reinforcement was eventually completely faded during all classroom activities, with one exception. Paul's team noticed the only time Paul continued to engage in the tongue protrusion behaviour was during difficult fine motor tasks (e.g., cutting, stringing beads). It was during these time periods only, that his teachers continued to deliver specific reinforcement for the omission of his self-stimulatory behaviour.

Figure 2 | Percentage of intervals during which Paul displayed oral self-stimulatory behaviour.

Figure 2 displays Paul's progress. During baseline Paul engaged in this behaviour for 75-88% of the time he was observed. Within a week of starting intervention, Paul was successfully participating in all classroom activities (with the exception of fine motor activities) with very low levels (10-16% of 60 second intervals) of the self-stimulatory behaviour. Thus, the rigorous implementation of differential reinforcement intervention resulted in a decrease in Paul's challenging behaviour to the extent that it was no longer a concern of his parents or the any of the members of his educational team.

Additional Applications

Self-stimulatory behaviours can take several forms, including oral behaviours such as that in which Paul engaged (e.g., tongue clicking, lip licking, mouthing objects), whole body behaviours (e.g., rocking), and inappropriate manipulation of objects (e.g., repeatedly shaking a toy car). Differential reinforcement procedures have been successfully applied resulting in decreases in such behaviours to a level at which they are no longer considered a problem (either very low rates of occurrence or no occurrences). While Paul's intervention involved a differential reinforcement of other behaviour (DRO), other differential reinforcement procedures such as those that identify a specific alternative or incompatible behaviour to reinforce (instead of the challenging behaviour) may also be successfully applied. For example, if a child engages in a self-stimulatory behaviour using objects in his/her environment, he/she can be systematically reinforced for engaging in the appropriate action. Writing with a pen or marker can be reinforced as an incompatible behaviour with chewing on the end of the writing instrument. Decreasing self-stimulatory behaviours is particularly important as the presence of such behaviours often interferes with learning and leads to further social isolation or stigmatisation of a child with Down syndrome.

Each of these cases was chosen to illustrate the use of evidence-based intervention procedures that effectively decreased challenging behaviours in children with Down syndrome. First, each case example illustrates the application of a specific intervention strategy. However, individual intervention strategies such as those described here are often applied in combination as a package positive behaviour support plan (e.g. Ref. 13 ). Positive behaviour support plans consist of intervention strategies combined to address setting events, antecedents, skill building, and consequences related to challenging behaviour. Consider a child who engages in escape motivated challenging behaviour during morning circle and is more likely to do so on days when his allergies are bothering him. A positive behaviour support plan might include increasing reinforcement during circle time on days when he shows signs of allergy (e.g., red runny nose) (i.e., setting event strategy), and presenting him with a preferred item as distractor during that activity (e.g., having the child hold the book while the teacher reads) (i.e., antecedent strategy). The child could also be systematically taught to ask to leave circle time (rather than engaging in challenging behaviour to escape circle time) (i.e., skill building) and his interventionists could deliver specific consequences for appropriate circle time behaviour (e.g., token system) (i.e., consequence strategy). The effectiveness of individual intervention strategies as illustrated in these case examples suggests the use of combined intervention packages for children with Down syndrome will be similarly effective.

Figure 3 | Components of a Positive Behaviour Support Plan with example interventions illustrated by each of the case studies presented.

Figure 3 illustrates the four components of a positive behaviour support plan and intervention strategies illustrated in the previous case examples.

Second, the case examples were chosen to specifically reflect some of the significant factors (e.g., sleep problems, escape motivated behaviour) associated with challenging behaviour in children with Down syndrome. Continued research is warranted to examine additional applications of behaviourally based intervention procedures to address the specific characteristics associated with Down syndrome. The early onset of escape and attention seeking challenging behaviour [ 6 , 7 ] has been included in the behavioural phenotype that characterises Down syndrome [ 8 ] . The early demonstration of such challenging behaviour can significantly and negatively impact outcomes for children with Down syndrome. Therefore, developing effective intervention strategies that can be used from a very young age, such as the token system with Sam, is imperative to circumvent the negative outcomes associated with such early behaviours. In fact, as families and professionals become well versed in effective intervention strategies, intervention can be implemented automatically so that significant challenging behaviour never enters the child's repertoire.

Finally, in these case examples the presence of challenging behaviour significantly impacted the children's access to and success in typical environments (e.g., general education classroom, Doctor's office). The decrease in challenging behaviour as a result of the use of behaviourally based intervention strategies led to increased successful opportunities to participate in typical environments. Thus, the application of evidence-based assessment and intervention strategies to address challenging behaviour in children with Down syndrome is important to ensure successful inclusion in community settings without risk of removal based on challenging behaviour.

• Doss S, Reichle J. Replacing excess behavior with an initial communicative repertoire. In Reichle J, York J, Sigafoos J, editors. Implementing augmentative and alternative communication strategies for learners with severe disabilities . Baltimore, MD: Paul H. Brookes; 1991: p.215-237.
• Coe DA, Matson JL, Russell DW, Slifer KJ, Capone GT, Baglio C, Stallings S. Behavior problems of children with Down syndrome and life events. Journal of Autism and Developmental Disorders . 1999;39:149-156.
• Evans DW, Gray FL. Compulsive-like behavior in individuals with Down syndrome: Its relation to mental age level, adaptive and maladaptive behavior. Child Development. 2000; 71:288-300.
• Glenn SM, Cunningham CC. Parents' reports of young people with Down syndrome talking out loud to themselves. Mental Retardation . 2000;38:498-505.
• Dykens EM, Kasari C. Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. American Journal on Mental Retardation . 1997;102:228-237.
• Wishart J. The development of learning difficulties in children with Down's syndrome. Journal of Intellectual Disability Research . 1993;37:389-403.
• Wishart J. Learning the hard way: Avoidance strategies in young children with Down's syndrome. Down Syndrome Research and Practice . 1993;1:47-55. [ Read Online ]
• Fidler DJ. The emerging Down syndrome behavioral phenotype in early childhood: Implications for practice. Infants and Young Children . 2005;18:86-103.
• Stores R. A preliminary study of sleep disorders and daytime behavior problems in children with Down's syndrome. Down Syndrome Research and Practice . 1993;1:29-33. [ Read Online ]
• Stores R, Stores G. Research on sleep problems and psychological function in children with Down syndrome: Implication for clinical practice and everyday care. Down Syndrome Research and Practice . 1996;4:110-112. [ Read Online ]
• Roizen NJ. Down syndrome and associated medical disorders. Mental Retardation and Developmental Disability Research Reviews . 1996;2:85-89.
• Feeley KM, Jones EA. Addressing challenging behaviour in children with Down syndrome: The use of applied behaviour analysis for assessment and intervention. Down Syndrome Research and Practice . 2006;11:64-77. [ Open Access Full Text ]
• Carr EG, Levin L, McConnachie G, Carlson JI, Kemp DC, Smith C. Communication based intervention for problem behavior: A user's guide for producing positive change . Baltimore, MD: Paul H. Brookes; 1994.
• Reichle J, Wacker D, editors. Communicative alternatives to challenging behavior: Integrating functional assessment and intervention strategies. Baltimore: Paul H. Brookes; 1993.
• O'Neill RE, Horner RH, Albin RW, Storey K, Sprague JR. Functional assessment and programme development for problem behavior: A practical handbook. 2nd ed. Pacific Grove, CA: Brooks/Cole; 1997.
• Michael J. Distinguishing between discriminative and motivational functions of stimuli. Journal of the Experimental Analysis of Behavior. 1982;37:149-155.
• Michael J. Implications and refinements of the establishing operation concept. Journal of Applied Behavior Analysis . 2000;33:401-410.
• Wahler RG, Fox JJ. Setting events in applied behavior analysis: Toward a conceptual and methodological expansion. Journal of Applied Behavior Analysis . 1981;14:327-338.
• Horner R, Day M, Sprague J, O'Brien M, Heathfield L. Interspersed requests: A nonaversive procedure for reducing aggression and self-injury during instruction. J ournal of Applied Behavior Analysis . 1991;24:265-278.
• Dadson S, Horner RH. Manipulating setting events to decrease problem behavior: A case study. Teaching Exceptional Children . 1993;25:53-55.
• McGill P, Teer K, Rye L, Hughes D. Staff reports of setting events associated with challenging behavior. Behavior Modification . 2005;28:599-615.
• Richdale A, Francis A, Gavidia-Payne S, Cotton S. Stress, behavior, and sleep problems in children with an intellectual disability. Journal of Intellectual and Developmental Disability . 2000;25:147-161.
• Horner RH, Vaughn BJ, Day HM, Ard WR. The relationship between setting events and problem behavior: expanding our understanding of heavier support. In Koegel LK, Dunlap G, editors. Positive behavioral support including people with difficult behavior in the community. Baltimore, MD: Paul H. Brooks; 1996: p.381-402.
• Kern L, Choutka CM, Sokol NG. Assessment-based interventions used in natural settings to reduce challenging behaviors: A review of the literature. Education and Treatment of Children . 2002;25:113-134.
• Davis C, McEvoy M, Reichle J. Minnesota Behavioral Support Project; 2005 [cited Apr 14, 2006]. Available from: https://cehd.umn.edu/ceed/projects/preschoolbehavior/strategies/Strategy.pdf
• Davis CA, Reichle JE, Southard KL. High-probability requests and preferred items as a distractor: Increasing successful transitions in children with behavior problems. Education and Treatment of Children . 2000;23:423-440.
• Bambara LM, Koger F, Katzer T, Davenport TA. Embedding choice in the context of daily routines: An experimental case study. Journal of the Association for Persons with Severe Handicaps. 1995;20:15-195.
• Dunlap G, DePerczel M, Clarke S, Wilson D, Wright S, White R, Gomez A. Choice making to promote adaptive behavior for students with emotional and behavioral challenges. Journal of Applied Behavior Analysis. 1994;27:505-518.
• Dyer K, Dunlap G, Winterling V. Effects of choice making on the serious problem behaviors of students with severe handicaps. Journal of Applied Behavior Analysis . 1990;23:515-524.
• Davis CA, Brady MP, Williams RE, Hamilton R. Effects of high-probability requests on the acquisition and generalization of responses to requests in young children with behavior disorders. Journal of Applied Behavior Analysis . 1992 25:905-916.
• Mace FC, Belfiore P. Behavioral momentum in the treatment of escape-motivated stereotypy. Journal of Applied Behavior Analysis . 1990;23:507-514.
• Durand VM, Carr EG. Functional communication training to reduce challenging behavior: Maintenance and application in new settings. Journal of Applied Behavior Analysis . 1991; 24:251-264.
• Lovaas OI. Behavioral treatment and normal educational functioning in young autistic children. Journal of Consulting and Clinical Psychology . 1987;55:3-9.
• Cooper JO, Heward TE, Heron WL. Applied behavior analysis . Upper Saddle River, NJ: Merril; 1987.
• Dalton AJ, Rubino CA, Hislop MW. Some effects of token rewards on school achievement of children with Down's syndrome. Journal of Applied Behavior Analysis . 1973;6:251-259.
• Johnston JM, Johnston GJ. Modification of consonant speech sound articulation in young children. Journal of Applied Behavior Analysis. 1972;5:233-246.
• Broden M, Hall RV, Mitts B. The effect of self-recording on the classroom behavior of two eighth-grade students. Journal of Applied Behavior Analysis . 1971;4:191-199.
• Repp AC, Deitz SM, Speir NC. Reducing stereotypic responding of retarded persons by differential reinforcement of other behavior. American Journal of Mental Deficiency. 1974;79: 279-284.

Acknowledgements

We would like to acknowledge the children and families who participated in these case studies, as well as the professionals (teachers and teaching assistants), who implemented the procedures.

Received: 21 September 2006; Accepted 14 February 2007; Published online: 6 August 2007.

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Successful aging in a 70-year-old man with down syndrome: a case study

Affiliation.

• 1 New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA. [email protected]
• PMID: 18578579
• DOI: 10.1352/2008.46:215-228

The authors present a case study of a 70-year-old man with Down syndrome ("Mr. C.") who they followed for 16 years and who does not exhibit declines in cognitive or functional capacities indicative of dementia, despite having well-documented, complete trisomy 21. The authors describe the age-associated changes that occurred over 16 years as well as provide detailed information regarding Mr. C.'s health and genetic status. To further emphasize Mr. C.'s successful aging, the authors compared his longitudinal performance profile with that of 2 peers of comparable level of intellectual functioning: 1 similar-aged man with clinical Alzheimer's disease and a younger man who was healthy. The authors present potential explanations for the phenotypic variability observed in individuals with Down syndrome.

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