Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome
Conditions
Brief summary
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
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.
Interventions
None listed
Sponsors
Rutgers, The State University of New Jersey
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present | 5 years | A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| T-score on the Behavior Rating Inventory of Executive Function (BRIEF) | Baseline, 5 years | 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. |
| Score on the Social Responsiveness Scale (SRS) | Baseline, 5 years | 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. |
| Score on the Social Communication Questionnaire (SCQ) | Baseline, 5 years | 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. |
| Score on the Child Behavior Checklist (CBCL) | Baseline, 5 years | 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. |
| Performance on the Penn Computerized Neurobahavioral Test battery (PennCNB) | Baseline, 5 years | 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. |
| Prodromal Questionnaire - Brief Version (PQ-B) | Baseline, 5 years | 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. |
| Feeding questionnaire | Baseline | Feeding questionnaire is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome. |
| Structured Interview for Psychosis Risk Syndromes (SIPS) | Baseline | 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 |
| Score on the Vineland | 5 years | 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. |
Countries
United States
Contacts
CONTACTJennifer G Mulle, MHS, PhD
CONTACTTeresa Irving
PRINCIPAL_INVESTIGATORJennifer Mulle, MHS, PhD
Rutgers University
Outcome results
None listed