Summary
The study objective is to compare neurodevelopmental (ND) and behavioral outcomes between children with Down syndrome (DS) who had complete atrioventricular septal defect (CAVSD) repair and children from the same clinical sites with DS without major congenital heart disease (CHD) requiring previous or planned CHD surgery.
Conditions
Down Syndrome, Congenital Heart Disease
Recruitment Status
Completed
Detailed Description
We are conducting a multicenter cohort study, ancillary to the Pediatric Heart Network (PHN) Residual Lesion Score (RLS) study, to investigate determinants of ND and behavioral outcomes in children with DS, focusing on the role of CHD surgery. We are including children with DS who had CAVSD repair, as this group comprises 91% of all children with DS in the RLS Study, with similar underlying congenital cardiac defect and surgical repair complexity, allowing our children with DS and CHD to be a homogeneous group. Moreover, one in five individuals with DS is born with an AVSD, a 2000 times higher incidence than in those with normal chromosomes. In addition to recruiting children with DS who had CAVSD repair, we will recruit similarly-aged children with DS who do not have documented major CHD (i.e., CHD requiring previous or planned CHD surgery) to come into the same PHN site for a single study visit consisting of detailed phenotyping by completion of a Health & Developmental History Intake form, ND and behavioral assessments, and optional collection and storage of saliva specimens in the PHN Biorepository. By building our sample from RLS Study participants and recruiting additional children who had infant CAVSD repair and meet study eligibility criteria, as well as a comparison group from the same PHN sites, we are leveraging rich prospective data in a group of DS children with CAVSD repair from a nationally representative sample, and the expertise of the PHN and Boston Children's Hospital (BCH).
Eligibility Criteria
Inclusion Criteria:
Down Syndrome CAVSD Repair Group:
Trisomy 21
Male or Female, ages 5 years through 12 years
Had CAVSD repair within the first year of life
Parent or guardian and patient willing to comply with protocol and complete all study assessments; parent or guardian willing to provide written informed consent
Child able to speak and understand English
Down Syndrome Comparison Group
Trisomy 21
Male or Female, age 5 years through 12 years
No major CHD, defined as CHD requiring previous or planned CHD surgery
Parent or guardian and patient willing to comply with protocol and complete all study assessments; parent or guardian willing to provide written informed consent
Child able to speak and understand English
Exclusion Criteria:
Both Groups
- Mosaic DS
Down Syndrome CAVSD Repair Group only - Did not have CAVSD repair in the first year of life
Down Syndrome Comparison Group only
- Major CHD requiring previous or planned CHD surgery - i.e., CHD surgery occurring (a) in the period between birth and time of recruitment into the CHILD-DS Study, or (b) planned for a future date.
Intervention
Intervention Type
Intervention Name
Other
Stanford Binet Intelligence Scales, Fifth Edition
Other
Vineland Adaptive Behavior Scales Third Edition
Other
Peabody Picture Vocabulary Test, Fifth Edition
Other
Expressive Vocabulary Test, Third Edition
Other
Leiter International Performance Scale, Third Edition
Other
Social Communication Questionnaire, Current Form
Other
Aberrant Behavior Checklist
Other
Repetitive Behavior Scale, Revised
Gender
All
Min Age
60 Months
Max Age
155 Months
Download Date
January 11, 2024
Principal Investigator
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
Primary Contact Information
lisajean.buckley@cardio.chboston.org
617-355-5421
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: