Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

Study Overview
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Brief Summary
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The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same small region. The purpose of this study is to understand the medical and behavioral consequences of these syndromes.

Detailed Description
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People with 3q29 deletion syndrome are missing a small part of a region on human chromosome 3, and people with 3q29 duplication syndrome have an extra part of their chromosome 3. Sometimes babies are born with a deletion or duplication of part of human chromosome 3, even though their parents have an intact chromosome 3. This is called de novo (or new) abnormalities.

Official Title
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Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

Conditions
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Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of 3q29 deletion or 3q29 duplication Consent from parents or guardians or an adult with 3q29 deletion or 3q29 duplication that does not require a legal guardian or an adult who is the healthy sibling of an individual with 3q29 deletion or 3q29 duplication or a healthy age-matched control Exclusion Criteria: Clinically significant medical disease that would prohibit participation in the study procedures
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| 3q29 deletion<br>Individuals with 3q29 deletion | |
| 3q29 duplication<br>Individuals with 3q29 duplication | |
| Unaffected siblings<br>Unaffected siblings of 3q29 deletion or duplication individuals | |
| Healthy Controls<br>Unrelated age-matched controls without 3q29 deletion or duplication | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present | A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered. | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in Autism Spectrum Screening Questionnaire (ASSQ) | The high-functioning ASSQ is a 27-item checklist for completion by lay informants when assessing symptoms characteristic of Asperger syndrome and other high-functioning autism spectrum disorders in children and adolescents with normal intelligence or mild mental retardation. Each question has three possible answers; No, Somewhat, and Yes, and each question has a score from 0 to 2. The highest total score possible is 54, and higher scores are indicative of characteristics of autism and Asperger's. | Baseline, 5 years | 
| Change in Social Responsiveness Scale (SRS) | The SRS is a 65-item, caregiver-rated assessment scale that measures observable items on social behavior and social language use, as well as characteristics of autism in a naturalistic social setting. Each item is rated on a scale from 0 (never true) to 3 (almost always true). The SRS total raw score ranges from 0 to 195; a higher score indicates greater severity of social impairment. | Baseline, 5 years | 
| Change in Social Communication Questionnaire (SCQ) | The SCQ is a 40-item, parent-reported screening measure that taps the symptomatology associated with autism spectrum disorder (ASD). The items are in a yes/no format and are translated to scores of 1 (yes) or 0 (no). The threshold reflecting the need for diagnostic assessment is a score of 15. Higher scores are indicative of autism characteristics. | Baseline, 5 years | 
| Change in the Child Behavior Checklist (CBCL) | The CBCL is a 120-item, parent-reported checklist that includes several competence items, open-ended items for describing the child's illnesses, disabilities, concerns about the child, best things about the child, and several items to rate behavioral, emotional, and social problems. Responses are recorded on a Likert scale: 0 = Not True, 1 = Somewhat or Sometimes True, 2 = Very True or Often True. The standardized score is computed by determining the z-score by subtracting the mean for the subject's age group and gender from the raw score and then dividing this by the standard deviation for the subject's age group and gender. Next, multiply the z-score by 15 and then add 100. For activities scale, social scale, school scale, and total competence scale, higher values indicate higher competencies. For Internalizing problems, externalizing problems, and total problems, higher values indicate more problems. | Baseline, 5 years | 
| Change in Developmental Profile, version 3 (DP-3) | The DP-3 is a 180-item, parent-reported checklist that measures child development. The DP-3 provides scores in five key areas of development: physical, adaptive behavior, social-emotional, cognitive, and communication.The DP-3 provides norm-based scores and information on individual strengths and weaknesses in child development. The DP-3 then shows a comparison of the child's development with other children who are the same age. | Baseline, 5 years | 
| Change in Prodromal Questionnaire - Brief Version (PQ-B) | The PQ-B is a 21-item self-report screening measure for psychosis risk syndromes. Each item is rated on a five-point Likert scale from 1 (strongly disagree) to 5 (strongly agree). The total score ranges from 0 to 21, where respondents receive 1 point for each yes response. The threshold reflecting the need for diagnostic assessment is a score of 3 or higher. | Baseline, 5 years | 
| Feeding questionnaire | Feeding questionnaire is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome. | Baseline | 
| Caregiver experiences | 30 minute qualitative survey (phone interview that will be recorded) to elicit information on the caregiver's experience searching for a diagnosis for their child, thoughts and feelings surrounding these experiences. | Baseline | 
| Assessment of behavior | A short digital video taken by parents or caregivers under semi-standardized conditions to assess subtle movement disorders, and aberrant aspects of social communication will be analyzed. | 5 years |