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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 3q29 deletion | Individuals with 3q29 deletion syndrome (sometimes called "3q29 micro deletion") | ||
| 3q29 duplication | Individuals with 3q29 duplication syndrome (sometimes called "3q29 micro duplication") | ||
| Parents | parents of individuals with the 3q29 deletion or 3q29 duplication | ||
| Healthy Controls | Unrelated age-matched controls without 3q29 deletion or duplication |
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| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| T-score on the Behavior Rating Inventory of Executive Function (BRIEF) | The BRIEF is a questionnaire designed to assess executive functioning. It is scored on a T-score scale, where higher scores indicate more disability in this domain. Scores range from 0-100, higher scores indicate worse executive function. | Baseline, 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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Study subjects will be recruited by an internet-based registry. The registry website will be indexed on popular search enginesand potential study subjects can elect to visit the website as they choose. Study population will be individuals with the 3q29 deletion or 3q29 duplication and their family members, although in most cases the primary caregiver of the 3q29 deletion or duplication individual will contribute the data. This study aims to collect data on approximately 200 individuals with the 3q29 deletion and 100 individuals with the 3q29 duplication. For comparison purposes, the study will assess an equal number of matched number of unaffected siblings and control individuals without the 3q29 deletion or duplication.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jennifer G Mulle, MHS, PhD | Contact | (848) 445-9866 | jennifer.mulle@rutgers.edu | |
| Teresa Irving | Contact | tmi21@cabm.rutgers.edu |
| Name | Affiliation | Role |
|---|---|---|
| Jennifer Mulle, MHS, PhD | Rutgers University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Internet-Based | Recruiting | Piscataway | New Jersey | 08854 | United States |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| ICF | No | No | Yes | Informed Consent Form | Sep 28, 2024 | Dec 1, 2024 | ICF_000.pdf |
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| ID | Term |
|---|---|
| C567184 | Chromosome 3q29 Deletion Syndrome |
| C567626 | Chromosome 3q29 Duplication Syndrome |
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DNA from saliva will be collected.
| Score on the 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 |
| Score on the 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 |
| Score on 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 |
| Performance on the Penn Computerized Neurobahavioral Test battery (PennCNB) | The PennCNB is a computerized assessment of domains of cognitive ability. It is scored on a z-score scale, where the mean is 0, positive scores indicate scores above the mean (better performance) and negative scores are below the mean (worse performance). Most acres wil fall between -3 and 3. | Baseline, 5 years |
| 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 |
| Structured Interview for Psychosis Risk Syndromes (SIPS) | The Structured Interview for Psychosis Risk Syndromes (SIPS) is a semi-structured interview designed to assess early signs of psychosis. For each scale scores range from 0-6, with higher scores indicating worse performance | Baseline |
| Score on the Vineland | The Vineland is a questionnaire designed to assess adaptive behavior. It is scores on a standard scale, where scores range from 0-160 with arena of 100. Higher scores indicated petter performance. | 5 years |