Pediatric Down Syndrome Research

The Anna and John J. Sie Center for Down Syndrome at Children's Hospital Colorado is one of the largest Down syndrome research departments in the country. Francis Hickey, MD, and a team of researchers work to improve how we understand Down syndrome through innovative clinical and translational research studies. As a result, outcomes, treatments and day-to-day life for children with Down syndrome improve greatly.

Our innovative approach

The Sie Center utilizes a multidisciplinary approach. Our researchers often collaborate with other organizations to improve the medical and behavioral outcomes associated with Down syndrome. There are approximately 25 active studies in the areas of:

• Pulmonary hypertension
• Dysphagia and swallow dysfunction
• Gross motor skills
• Neonatal complications
• Lung function
• Obstructive sleep apnea
• Autoimmune conditions and testing
• Behavior characteristics
• Hearing loss and testing
• Regression
• Language and literacy
• Neurological disorders including infantile spasms

Cutting-edge Down syndrome research is a top priority for the Sie Center team. New studies will appear on this page soon after publication. Recent articles from Dr. Hickey and the Sie Center include:

Down syndrome research breakthrough identifies a link with certain neonatal medical conditions

Study Title: Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

Purpose: Babies with Down syndrome have an increased risk of developing neonatal complications. Until recently, researchers lacked understanding of how often these conditions occurred. There was also little understanding around the frequency of neonatal intensive care admissions.

Dr. Hickey and team reviewed the clinical records of 1,108 children with Down syndrome. They focused on cases at Children's Colorado from 2011 to 2016. Medical complications requiring admission to the neonatal intensive care unit were common. In 70.6% of all cases, neonatal intensive care was necessary. These new findings reinforce recommendations on medical care screening for affected babies.

Exploring dysphagia (difficulty swallowing) in young children with Down syndrome

Study Title: Clinical Characteristics of Dysphagia in Children with Down Syndrome

Purpose: Many children with Down syndrome have dysphagia, or difficulty swallowing. Dysphagia is a common condition with serious medical consequences. To better understand dysphagia, the Sie Center reviewed swallow studies in children with Down syndrome. Arwen Jackson, Sie Center speech and language pathologist, helped conduct the study. Additional researchers from the Sie Center joined the efforts. Jennifer Maybee, speech language pathologist, was also instrumental in the study.

The research team found that liquids and other feeding changes were helpful. Simple changes allowed children with dysphagia to continue eating by mouth. New information like this helps both families and physicians better manage dysphagia.

Current research on Down syndrome explores how pulmonary hypertension develops in children

Study Title: Clinical Characteristics and Risk Factors for Developing Pulmonary Hypertension in Children with Down syndrome

Purpose: Researchers knew that pulmonary hypertension occurs in children with Down syndrome. But, specific details were lacking. In this study, Douglas Bush, MD, and the Sie Center research team reviewed pulmonary hypertension. They studied characteristics like frequency and the most common risk factors.

Results show that the condition is often transient. But, it can recur alongside respiratory diseases. Those diseases include obstructive sleep apnea, intermittent hypoxia and recurrent pneumonia.

Creating a benchmark for gross motor development in children with Down syndrome

Study Title: A Schedule of Gross Motor Development for Children with Down Syndrome

Purpose: Gross motor milestones for children who develop typically have been well-established. Yet, norms for children with Down syndrome were uncertain.

For this study, the Sie Center's team collected longitudinal data on 44 gross motor skills. The research team analyzed 509 children with Down syndrome. Now, physicians can assess performance relative to other children with Down syndrome.

Early identification of advanced, age-appropriate, or delayed development is crucial. Now, more appropriate referrals and more effective targeted interventions are possible.

Reviewing the frequency of hearing problems in children with Down syndrome

Study Title: Understanding Hearing and Hearing Loss in Children with Down Syndrome

Purpose: Children with Down syndrome have an increased risk of hearing loss. Emily Nightengale, Patricia Yoon, MD, and Dr. Hickey led the research team for this study. They identified permanent hearing loss in 24.9% of children.

An additional 22% to 30% of children experienced transient hearing loss. Hearing loss and middle ear conditions are common in children with Down syndrome. These findings confirm the need for regular audiologic evaluations.

Identification of adrenocorticotropic hormone (ACTH) as optimal treatment for infantile spasms in children with Down syndrome

Study Title: Infantile Spasms in Children with Down Syndrome: Identification and Treatment Response

Purpose: Infantile spasms are the most common type of seizure in children with Down syndrome. These age-specific seizures occur in 2.5% to 3.1% of all Down syndrome cases. To compare, the general pediatric population has a prevalence rate of 0.016% to 0.042%.

Dee Daniels, Sie Center Clinic Director, and her research team led this study. They found that 81% of children with Down syndrome who received ACTH in initial treatment experienced remission within 2 weeks. 94.1% of children had remission at 3 months, compared to 18.8% at 2 weeks and 35.3% at 3 months for other first-line treatments.

These results stress the importance recognizing infantile spasms early. They also emphasize the effectiveness of ACTH treatment for this seizure disorder.

Studying how behavior problems relate to adaptive functioning in adolescents with Down syndrome

Study Title: Behavioral Characteristics of Individuals with Down Syndrome

Purpose: Research suggests that children with Down syndrome have increased behavior problems. The difference is most obvious when compared to their peers. Yet, few studies have explored how these problems relate to adaptive functioning.

Lina Patel, PsyD, Director of Psychology at the Sie Center, and the center's research team led this study. They found that many of the adolescents reviewed demonstrated behavior problems. Struggles with attention and social participation were especially pronounced.

This improved understanding of behavior and adaptive functioning will be incredibly useful. With these new insights, we can design targeted interventions and improve functional outcomes. As a result, quality of life for children with Down syndrome and their families improves.