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Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS) (CHILD-DS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05312177
Recruitment Status : Recruiting
First Posted : April 5, 2022
Last Update Posted : August 5, 2022
Sponsor:
Collaborators:
National Heart, Lung, and Blood Institute (NHLBI)
National Institutes of Health (NIH)
Information provided by (Responsible Party):
HealthCore-NERI

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.

Condition or disease Intervention/treatment
Down Syndrome Congenital Heart Disease 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

Detailed Description:
We will conduct 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 will only include RLS Study 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 RLS Study 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 a comparison group from the same PHN sites, we will leverage 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).

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Study Type : Observational
Estimated Enrollment : 320 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
Actual Study Start Date : May 30, 2022
Estimated Primary Completion Date : June 30, 2023
Estimated Study Completion Date : June 30, 2023

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
DS with CAVSD Repair
Children between the ages of 5 and 8 years with Down syndrome who had Complete atrioventricular septal defect (CAVSD) repair in the first year of life and their parent(s) will be administered the Stanford-Binet Intelligence Scales, Fifth Edition (SB-5), Peabody Picture Vocabulary Test, Fifth Edition (PPVT-5), Expressive Vocabulary Test, Third Edition (EVT-3), Leiter International Performance Scale, Third Edition (Leiter-3), Vineland-3 Q-global Comprehensive Report (Vineland-3) ,Social Communication Questionnaire, Current version (SCQ), Aberrant Behavior Checklist, Second Edition, (ABC-2) and Repetitive Behavior Scale, Revised (RBS-R)
Other: Stanford 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.
Other Name: SB-5

Other: Vineland 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.
Other Name: VABS-3

Other: Peabody 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.
Other Name: PPVT-5

Other: Expressive 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.
Other Name: EVT-3

Other: Leiter 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).
Other Name: Leiter-3

Other: Social Communication Questionnaire, Current Form
The SCQ is a parent-report measure of social communication, social interactions, play, and behavior.
Other Name: SCQ

Other: Aberrant 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.
Other Name: ABC-2

Other: Repetitive Behavior Scale, Revised
The RBS-R is a parent report measure that comprehensively surveys for the presence of repetitive behaviors.
Other Name: RBS-R

DS without major CHD
Children between the ages of 5 and 8 years with Down syndrome without major Congenital Heart Disease(CHD) and their parent(s) will be administered the Stanford-Binet Intelligence Scales, Fifth Edition (SB-5), Peabody Picture Vocabulary Test, Fifth Edition (PPVT-5), Expressive Vocabulary Test, Third Edition (EVT-3), Leiter International Performance Scale, Third Edition (Leiter-3), Vineland-3 Q-global Comprehensive Report (Vineland-3) ,Social Communication Questionnaire, Current version (SCQ), Aberrant Behavior Checklist, Second Edition, (ABC-2) and Repetitive Behavior Scale, Revised (RBS-R)
Other: Stanford 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.
Other Name: SB-5

Other: Vineland 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.
Other Name: VABS-3

Other: Peabody 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.
Other Name: PPVT-5

Other: Expressive 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.
Other Name: EVT-3

Other: Leiter 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).
Other Name: Leiter-3

Other: Social Communication Questionnaire, Current Form
The SCQ is a parent-report measure of social communication, social interactions, play, and behavior.
Other Name: SCQ

Other: Aberrant 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.
Other Name: ABC-2

Other: Repetitive Behavior Scale, Revised
The RBS-R is a parent report measure that comprehensively surveys for the presence of repetitive behaviors.
Other Name: RBS-R




Primary Outcome Measures :
  1. Neurodevelopmental outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD. [ Time Frame: 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.

  2. Behavioral outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD. [ Time Frame: 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.

  3. Language abilities compared between the children with DS and CAVSD repair and the children with DS without major CHD. [ Time Frame: 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.

  4. Emotional outcomes compared between the children with DS and CAVSD repair and the children with DS without major CHD. [ Time Frame: 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.

  5. Social Communication compared between the children with DS and CAVSD repair and the children with DS without major CHD. [ Time Frame: 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.


Secondary Outcome Measures :
  1. Comorbidities as predictors of neurodevelopment and behavior [ Time Frame: 1 day ]
    Comorbidities will be compared between the children with DS and CAVSD repair and the children with DS without major CHD.

  2. Sociodemographic factors as predictors of neurodevelopment and behavior [ Time Frame: 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.


Biospecimen Retention:   Samples With DNA
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.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   60 Months to 108 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
PHN RLS Study participants with DS and CAVSD repair from the 13 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.
Criteria

Inclusion Criteria:

Down Syndrome CAVSD Repair Group:

  • Trisomy 21
  • Male or Female, age 5 years through 8 years
  • Pediatric Heart Network (PHN) Residual Lesion Score (RLS) study participant having CAVSD repair within the first year of life at a subset of recruitment sites
  • Parent or guardian and patient willing to comply with protocol, complete all study assessments, and provide written informed consent using the English language
  • Child and parent able to speak and understand English

Down Syndrome Comparison Group

  • Trisomy 21
  • Male or Female, age 5 years through 8 years
  • No major CHD, defined as CHD requiring previous or planned CHD surgery
  • Parent or guardian and patient willing to comply with protocol, complete all study assessments, and provide written informed consent using the English language
  • Child and parent able to speak and understand English

Exclusion Criteria:

Both Groups

- Mosaic DS

Down Syndrome CAVSD Repair Group only - Not a participant in the PHN RLS Study

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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05312177


Contacts
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Contact: Maria VanRompay, PhD 617-584-7142 MVanRompay@HealthCore.com
Contact: Melissa Lamberti, MSW 339-222-2804 mlamberti@healthcore.com

Locations
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United States, Delaware
Alfred I. duPont Hospital for Children Recruiting
Wilmington, Delaware, United States, 19899
Contact: Carol Prospero, RN       cprosper@NEMOURS.ORG   
Contact: Varsha Zadokar       Varsha.Zadokar@nemours.org   
Principal Investigator: Christian Pizarro, MD         
United States, Georgia
Children's Healthcare of Atlanta at Egleston Not yet recruiting
Atlanta, Georgia, United States, 30033
Contact: Jean McColl       jean.luan@emory.edu   
Principal Investigator: Amy Talboy, MD         
United States, Indiana
Riley Children's Hospital Recruiting
Indianapolis, Indiana, United States, 46202
Contact: Leanne Dunn       lkhernan@iu.edu   
Contact: Mary Stumpf       mestumpf@iu.edu   
Principal Investigator: Marcus Schamberger, MD         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02111
Contact: Thomas Giorgio       Thomas.Giorgio@cardio.chboston.org   
Contact: Lisa Jean Buckley       LisaJeanBuckley@cardio.chboston.org   
Principal Investigator: Meena Nathan, MD         
Principal Investigator: Nicole Baumer, PhD         
United States, Michigan
University of Michigan Health System/Mott Hospital Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Tammy Doman       tpaterso@med.umich.edu   
Principal Investigator: Caren Goldberg         
United States, Missouri
Children's Mercy Hospital Recruiting
Kansas City, Missouri, United States, 64108
Contact: Jennifer Nelson       jnelson@cmh.edu   
Principal Investigator: Geetha Raghuveer, MD         
Principal Investigator: Nasreen Talib, MD         
United States, New York
Columbia College of Physicians and Surgeons Recruiting
New York, New York, United States, 10032
Contact: Chantal Sanchez       Cms2330@cumc.columbia.edu   
Contact: Chanel Rojas       Cr2651@cumc.columbia.edu   
Principal Investigator: Brett Anderson, MD         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Lauryn Dugan       lauryn.dugan@cchmc.org   
Principal Investigator: Nadine Kasparian, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Aayush Raman       ramana@chop.edu   
Contact: Donna Sylvester       sylvesterd@email.chop.edu   
Principal Investigator: Mary Pipan, MD         
United States, South Carolina
Medical University of South Carolina Recruiting
Charleston, South Carolina, United States, 29425
Contact: Layla Al Sarraf       alsarral@musc.edu   
Principal Investigator: Angela LaRosa, MD         
United States, Texas
Baylor College of Medicine - Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: Sandra Pena       sypena@texaschildrens.org   
Principal Investigator: Lisa Noll, PhD         
United States, Utah
Primary Children's Hospital Recruiting
Salt Lake City, Utah, United States, 84132
Contact: Andrea Cureless       andrea.curless@hsc.utah.edu   
Principal Investigator: Whitnee Hogan, MD         
Canada, Ontario
Hospital for Sick Children Recruiting
Toronto, Ontario, Canada, M5G 1X8
Contact: Jessica Bainton       jessica.bainton@sickkids.ca   
Principal Investigator: Steven Schwartz, MD         
Sponsors and Collaborators
HealthCore-NERI
National Heart, Lung, and Blood Institute (NHLBI)
National Institutes of Health (NIH)
Investigators
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Principal Investigator: Maria VanRompay, PhD HealthCore-NERI
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Responsible Party: HealthCore-NERI
ClinicalTrials.gov Identifier: NCT05312177    
Other Study ID Numbers: CHILD-DS
3U24HL135691-03S1 ( U.S. NIH Grant/Contract )
First Posted: April 5, 2022    Key Record Dates
Last Update Posted: August 5, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Public Use Datasets are created after study closeout and are made available on the PHN public website. Annotated study data collection forms, Statistical Analysis Program (SAS) datasets, and excel datasets are made available, as well as de-identified study cohort characteristics.
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Time Frame: Data is available one year after study closeout and is available indefinitely.
Access Criteria: log-in and password
URL: https://www.pediatricheartnetwork.org/login/

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by HealthCore-NERI:
Down Syndrome
CHD
Congenital Heart Disease
Pediatric Heart Network
INCLUDE
Additional relevant MeSH terms:
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Down Syndrome
Heart Diseases
Heart Defects, Congenital
Syndrome
Disease
Pathologic Processes
Cardiovascular Diseases
Cardiovascular Abnormalities
Congenital Abnormalities
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Chromosome Disorders
Genetic Diseases, Inborn