Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome
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|ClinicalTrials.gov Identifier: NCT02447861|
Recruitment Status : Recruiting
First Posted : May 19, 2015
Last Update Posted : January 29, 2020
|Condition or disease|
|Microdeletion 3q29 Syndrome Microduplication 3q29 Syndrome|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||600 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome|
|Study Start Date :||July 2013|
|Estimated Primary Completion Date :||March 2021|
|Estimated Study Completion Date :||March 2021|
Individuals with 3q29 deletion
Individuals with 3q29 duplication
Unaffected siblings of 3q29 deletion or duplication individuals
Unrelated age-matched controls without 3q29 deletion or duplication
- Range of medical conditions associated with the 3q29 deletion and duplication, assessed by the percent of patients reporting specific conditions present [ Time Frame: 5 years ]A medical questionnaire designed to collect data on commonly reported medical conditions associated with the 3q29 deletion or duplication will be administered.
- Change in Autism Spectrum Screening Questionnaire (ASSQ) [ Time Frame: Baseline, 5 years ]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.
- Change in Social Responsiveness Scale (SRS) [ Time Frame: 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.
- Change in Social Communication Questionnaire (SCQ) [ Time Frame: 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.
- Change in the Child Behavior Checklist (CBCL) [ Time Frame: 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.
- Change in Developmental Profile, version 3 (DP-3) [ Time Frame: Baseline, 5 years ]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.
- Change in Prodromal Questionnaire - Brief Version (PQ-B) [ Time Frame: 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 [ Time Frame: Baseline ]Feeding questionnaire is an 11-item questionnaire to document the specific feeding problems experienced by individuals with 3q29 deletion syndrome.
- Caregiver experiences [ Time Frame: Baseline ]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.
- Assessment of behavior [ Time Frame: 5 years ]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.
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): NCT02447861
|Contact: Jennifer Mulle, MHS, PhDemail@example.com|
|United States, Georgia|
|Atlanta, Georgia, United States, 30322|
|Contact: Jennifer Mulle, MHS, PhD 404-727-0406 firstname.lastname@example.org|
|Principal Investigator:||Jennifer Mulle, MHS, PhD||Emory University|