Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.

All main data came from parent or guardian questionnaires, with only 3 of 93 participants self-registering, so answers may reflect parental perception rather than direct clinical assessment. The medical history was retrospective, and intellectual disability was inferred from reported diagnoses and walking age rather than direct IQ and adaptive behaviour testing. The sample was recruited online and was 87.1% white, and parents who complete detailed registries may be those with children who have more severe problems, so prevalence and scores may be higher than in all people with 3q29 deletion. Some participants did not complete all standardized questionnaires because the child was too young, so questionnaire findings are based on subsets. Stratified analyses by sex and autism diagnosis had small numbers, so subgroup comparisons are limited. Heart defect analyses were underpowered because few participants had different heart defect types, and microcephaly was not examined because over 50% of head circumference answers were unsure. The case and control groups differed in race, with 87.1% of cases white compared with 64.1% of controls.

Funded by the National Institute of Mental Health, the National Institutes of Health, and Emory University School of Medicine. The supplied text does not include an author conflict-of-interest statement.

Do not treat high questionnaire scores as proof of autism. Some people without a diagnosis scored high, and the authors note the Social Responsiveness Scale may reflect anxiety or other social disability, not only autism.