Congenital Heart Disease, Down Syndrome
Conditions
Keywords
Down Syndrome, CHD, Congenital Heart Disease, Pediatric Heart Network, INCLUDE
Brief 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.
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).
Interventions
OTHERStanford Binet Intelligence Scales, Fifth Edition
The SB-5 is a comprehensive measure of cognitive and intellectual functioning for individuals from age two through 85 years of age. The SB-5 individually assess a child's functioning in five areas of cognitive functioning: Fluid Reasoning, Knowledge, Quantitative Reasoning, Visual Spatial, and Working Memory. The SB-5 is well established in the existing research literature as an assessment tool to evaluate developmental and intellectual abilities in children with ND disorders.
OTHERVineland Adaptive Behavior Scales Third Edition
The VABS-3 are a parent report, interview style measure of adaptive behavior for individuals ages birth through 90 months. The VABS-3 assesses adaptive behavior in four broad domains of Communication, Daily Living Skills, Socialization, and Motor Skills, and includes a Maladaptive Behavior Domain that assesses problem behaviors.
OTHERPeabody Picture Vocabulary Test, Fifth Edition
The PPVT-5 is a norm-referenced language measure that evaluates single-word receptive vocabulary. The PPVT-5 provides standard scores for individuals ages 2.6 through 90 years.
OTHERExpressive Vocabulary Test, Third Edition
The EVT-3 is a norm-referenced language measure that evaluates single-word expressive vocabulary. The EVT-3 provides standard scores for individuals ages 2.6 through 90 years.
OTHERLeiter International Performance Scale, Third Edition
The Leiter-3 is a nonverbal measure of cognitive functioning and fluid reasoning skills in individuals ages 3 through 75 years. The Leiter-3 measures nonverbal IQ across four subscales, including Sequential Order (SO), Form Completion (FC), Classification and Analogies (CA), and Figure Ground (FG).
OTHERSocial Communication Questionnaire, Current Form
The SCQ is a parent-report measure of social communication, social interactions, play, and behavior.
OTHERAberrant Behavior Checklist
The ABC-2 is a parent report measure of problematic behavior at home and in the community. It measures behavior on five subscales (1) Irritability, (2) Social Withdrawal, (3) Stereotypic Behavior, (4) Hyperactivity/Noncompliance, and (5) Inappropriate Speech.
OTHERRepetitive Behavior Scale, Revised
The RBS-R is a parent report measure that comprehensively surveys for the presence of repetitive behaviors.
Sponsors
National Heart, Lung, and Blood Institute (NHLBI)
National Institutes of Health (NIH)
Carelon Research
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
60 Months to 155 Months
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Behavioral outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD. | 1 day | Adaptive composite scores from the Vineland Adaptive Behavior Scales will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
| Emotional outcomes compared between the children with DS and CAVSD repair and the children with DS without major CHD. | 1 day | Using the Repetitive Behavior Scale and Aberrant Behavior Checklist , behavioral and emotional problems will be compared will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
| Social Communication compared between the children with DS and CAVSD repair and the children with DS without major CHD. | 1 day | Using the Social Communication Questionnaire, social communication, social interactions, play and behavior will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
| Neurodevelopmental outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD. | 1 day | Verbal and non-verbal ratio intelligent quotients (IQs) derived from the Stanford Binet Intelligence Scales will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
| Language abilities compared between the children with DS and CAVSD repair and the children with DS without major CHD. | 1 day | Using the Peabody Picture Vocabulary Test, Expressive Vocabulary Test, and Leiter International Performance Scale total language, auditory comprehension, and expressive communication will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Sociodemographic factors as predictors of neurodevelopment and behavior | 1 day | Sociodemographic factors, such as will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
| Comorbidities as predictors of neurodevelopment and behavior | 1 day | Comorbidities will be compared between the children with DS and CAVSD repair and the children with DS without major CHD. |
Countries
Canada, United States
Outcome results
None listed