Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
Condition: Down Syndrome; Congenital Heart Disease
MeSH terms: Down Syndrome; Heart Diseases; Heart Defects, Congenital; Syndrome
Study type: Observational

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).
    

Intervention name(s): Stanford Binet Intelligence Scales, Fifth Edition; Vineland Adaptive Behavior Scales Third Edition; Peabody Picture Vocabulary Test, Fifth Edition; Expressive Vocabulary Test, Third Edition; Leiter International Performance Scale, Third Edition; Social Communication Questionnaire, Current Form; Aberrant Behavior Checklist; Repetitive Behavior Scale, Revised
Intervention type(s): Other; Other; Other; Other; Other; Other; Other; Other
Intervention description(s): 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.; 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.; 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.; 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.; 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).; The SCQ is a parent-report measure of social communication, social interactions, play, and behavior.; 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.; The RBS-R is a parent report measure that comprehensively surveys for the presence of repetitive behaviors.
Other intervention name(s): SB-5; VABS-3; PPVT-5; EVT-3; Leiter-3; SCQ; ABC-2; RBS-R
Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        PHN RLS Study participants with DS and CAVSD repair from the PHN sites are eligible to
        participate in this study. Children with a diagnosis of mosaic DS will be excluded, as
        these forms of DS show different ND trajectories and are usually excluded. While data on
        mosaic DS were not collected in the RLS Study, we anticipate few if any to have this
        diagnosis. The DS comparison group will be required to have no major CHD, defined as CHD
        that requires CHD surgery (a) in the period between birth and recruitment into the CHILD-DS
        Study or (b) planned for a future date.
      
Biospecimen description: 
      We aim to collect saliva samples from study participants during the single study visit at the
      PHN site, which will be preserved and processed by the PHN Biorepository for DNA storage for
      future targeted research studies.
    
Keywords: Down Syndrome; CHD; Congenital Heart Disease; Pediatric Heart Network; INCLUDE