Neurodevelopmental and Behavioral Pediatrics

Neurodevelopmental and Behavioral Pediatrics

Medical and Behavioral Characteristics in Children with Down Syndrome

The Association of University Centers on Disabilities (AUCD) and the Centers for Disease Control funded the study on The Medical and Behavioral Characteristics in Children with Down Syndrome. The analysis addresses prevalence of Autism in children with Down Syndrome and investigated the role of repetitive behaviors, functional skills and specific medical comorbidities in diagnosis. Identifying ways of differentiating Autism from other similar behavioral manifestations in children with Down Syndrome will aid in counseling families regarding intervention strategies and prognosis.

This study was completed between 2005 and 2008 with over 450 families around New York State participating in at least one portion of the study. Below are some of the study's major findings:

Our study confirms that medical problems are frequently seen in children with Down Syndrome:

  • Common Medical Problems Reported Included: Heart Disease (55%), Hearing Problems (39%), Vision Problems (39%) and Thyroid Disease (27%).
  • Less Common Medical Problems Reported Included: Celiac Disease (5%), Alopecia or Hair Loss (5%), Seizures (7%), Diabetes (1%) and Juvenile Rheumatoid Arthritis (0.2%).
  • Only 7% of the children with Down Syndrome were not reported to have any of these conditions.

This data will help health care providers with medical monitoring of children with Down Syndrome.

Screening tests commonly used to identify behaviors associated with an Autism Spectrum Disorder (ASD) require additional evaluation for their use with children with Down Syndrome. Over half the children screened were identified as having some symptoms of an Autism Spectrum Disorder. However, the screening tests missed about 40% of children at risk for an Autism Spectrum Disorder.

Additional study of the screening tests will help determine what measures may be most useful in accurately identifying children with Down Syndrome who require further assessment for an Autism Spectrum Disorder.

Developmental Regression was reported by almost 10% of 171 families interviewed. Of those children reported to experience a regression, the average age of reported loss of language skills was 47 months; for other skills, it was 27 months. These are older ages than the regression typically reported in children with Autism Spectrum Disorder

This finding alerts families and health care providers that children with Down Syndrome should be monitored for regression in developmental milestones throughout the early childhood period (up to 8 years of age).

Project Collaborators

This study has been completed. For more information, contact Claire Hoffmire at


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