Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome.

Researchers studied 6 people with a rare genetic condition called Dup15q, which is linked to autism. They used many different tests to understand how this condition affects thinking, daily living skills, and behavior. All participants had learning difficulties, and 2 were diagnosed with autism. Social and communication challenges were more common than repetitive behaviors. Three participants had anxiety. Parents reported high stress and lower quality of life.

This study developed a comprehensive assessment protocol for individuals with maternal 15q11-q13 duplication syndrome (Dup15q), a rare genetic condition associated with autism spectrum disorder. Six participants underwent extensive neuropsychiatric evaluation using gold standard tools. Results showed that all participants had cognitive impairments, most had below-average adaptive functioning, and one-third received ASD diagnoses. Social communication difficulties were more prominent than repetitive behaviors.

Anxiety disorders were common, affecting half the participants. Parents experienced high stress levels and reduced quality of life, with the carrier mother showing psychiatric symptoms and autistic traits herself.

Establishes need for comprehensive, standardized assessment protocols for Dup15q syndrome. Social communication interventions should be prioritized over repetitive behavior interventions. Mental health screening for anxiety is essential. Family support services are crucial given high parental stress. Genetic counseling should address variable autism presentation.

Very small sample size (n=6) limits generalizability. Study design not specified. No control group for comparison. Assessment protocol is newly developed without validation. Findings may not represent the broader Dup15q population due to recruitment bias.

Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments. Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning (Leiter-3, Adaptive Behavior Assessment System-Second Edition), autistic traits (Autism Diagnostic Observation Schedule-2 [ADOS-2], Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire, Social Responsiveness Scale, Repetitive Behaviors Scale-R), co-occurring psychopathology (Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Swanson, Nolan, and Pelham-Forth Edition, Sleep Disturbance Scale for Children), and family functioning (Parenting Stress Index-Short Form, PedsQL).

Parents were required to fill the Symptom Checklist 90 (SCL-90) and Autism-Spectrum Quotient (AQ) to gather information about their psychiatric co-occurrences and autistic traits. A molecular analysis was performed to confirm the genetic alteration. Two siblings inherited the duplication through maternal transmission, whereas 4 individuals had a de novo maternal duplication. No participant exhibited preserved cognitive abilities; 4 of 5 showed below average adaptive functioning and 2 of 6 received a diagnosis of ASD.

ADOS-2 revealed greater difficulties in the Social Affect domain compared with the Repetitive and Restricted Behaviors domain ( p < 0.05), findings confirmed by ADI-R ( p < 0.05). K-SADS indicated clinical scores in 5 individuals, with anxiety disorder in 3 participants. High levels of parental stress and a poor quality of life were reported. The mother carrier of the duplication showed clinical scores on the "Positive Symptom Total" of the SCL-90 and on the AQ.

Individuals with an in tandem 15q-11q13 duplication seems to exhibit cognitive and adaptive difficulties along with psychiatric co-occurrences and autistic traits. Parents, with or without the duplication, may experience psychopathological difficulties and impaired family functioning.