The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes

A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered.

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.

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.

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.

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.

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.

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 is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome.

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

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.