Peer-reviewed article
The psychiatric phenotype of 15q11.2-q13.3 duplications
Budisteanu M, Papuc S, Erbescu A, Andrei E, Streata I et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a clinical genetics study describing psychiatric and neurological features in 9 children with 15q11.2-q13.3 chromosomal duplications. The study documents the presence of speech delay, autism, developmental delay, and other neuropsychiatric conditions in these patients. While the research involves children, it is a descriptive case series focused on identifying genetic associations rather than evaluating interventions to improve child well-being.
Key points
- All 9 children with 15q duplications presented with speech delay
- 8 out of 9 patients showed autistic behavior and muscular hypotonia
- 6 patients had developmental delay or intellectual disability
- The CHRNA7 gene was identified as a candidate gene for behavioral abnormalities
- Clinical presentations showed heterogeneity and variable severity
Limitations
This is a descriptive case series of only 9 children without a control group, so it cannot determine prevalence, risk factors, or evaluate the effectiveness of any interventions. The study documents associations but cannot establish causation or explain the variability in clinical presentation.
Abstract
Introduction 15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention-deficit hyperactivity disorder, schizophrenia, epilepsy was reported in association with genomic imbalances of this region. Objectives In this paper we report on 9 children carrying 15q11.2-q13.3 duplications. Methods Seven boys and two girls, aged 15 months to 15 years, were included in the study. Genomic investigations were carried out by array-based comparative genomic hybridization (Agilent Technologies). In all patients the psychomotor development, dysmorphic features, neuroimaging and EEG anomalies were assessed. Psychologic and psychiatric evaluation was performed with specific tests. Results The size of the duplications ranged from 9.65 Mb to 0.38 Mb. All patients presented speech delay. Autistic behavior and muscular hypotonia were detected in 8 out of 9 patients, DD/ID in 6. Two children presented epileptic seizures, in addition 4 other children had EEG anomalies. Facial dysmorphic features were observed in 5 patients. Neuroimaging studies showed anomalies in 4 children. The smallest region of overlap in our patient group harbors CHRNA7 gene, a candidate for the behavioral abnormalities. Conclusions 15q duplications encompassing CHRNA7 gene were associated with different neuropsychiatric features in our patients. Our results further support the association of 15q duplications with neuropsychiatric phenotypes, with clinical heterogeneity and variable severity, which is yet to be explained. Acknowledgment: The research leading to these results has received funding from the EEA RO NO Grant 2014-2021, the project contract No 6/2019. Disclosure No significant relationships.