Comorbid Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder in a Patient with 6q25.1–Q25.3 Microdeletion: A Case Report

6q25 microdeletion is a rare syndrome associated with intellectual disability and dysmorphism. However, comorbid Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are poorly documented. We report a 16-year-old male with a 6.7 Mb deletion (6q25.1-q25.3) presenting with hydrocephalus, cerebral palsy, and severe behavioral dysregulation. Psychiatric evaluation confirmed comorbid ASD (CARS: 52) and ADHD. Behavioral symptoms and aggression were successfully stabilized using 5 mg/day olanzapine. Our case is the first report of ASD/ADHD co-occurrence in 6q25 syndrome highlights the potential neurobehavioral role of genes like ARID1B and SYNE1. Our findings emphasize the need for comprehensive psychiatric evaluation in rare chromosomal aberrations.

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Journal
Developmental Neuropsychology
Published
2026-05-18
DOI
https://doi.org/10.1080/87565641.2026.2674063
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

Comorbid Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder in a Patient with 6q25.1–Q25.3 Microdeletion: A Case Report

Burcu Yıldırım Budak, Mehmet Sezgin, Oğuzhan Koyuncu, Mustafa Güneş
Developmental Neuropsychology
Genomic variations and chromosomal abnormalities
article

Comorbid Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder in a Patient with 6q25.1–Q25.3 Microdeletion: A Case Report

Burcu Yıldırım Budak, Mehmet Sezgin, Oğuzhan Koyuncu, Mustafa Güneş
article en

Abstract

6q25 microdeletion is a rare syndrome associated with intellectual disability and dysmorphism. However, comorbid Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are poorly documented. We report a 16-year-old male with a 6.7 Mb deletion (6q25.1-q25.3) presenting with hydrocephalus, cerebral palsy, and severe behavioral dysregulation. Psychiatric evaluation confirmed comorbid ASD (CARS: 52) and ADHD. Behavioral symptoms and aggression were successfully stabilized using 5 mg/day olanzapine. Our case is the first report of ASD/ADHD co-occurrence in 6q25 syndrome highlights the potential neurobehavioral role of genes like ARID1B and SYNE1. Our findings emphasize the need for comprehensive psychiatric evaluation in rare chromosomal aberrations.

Developmental Neuropsychology
Bağcılar Eğitim ve Araştırma Hastanesi (TR), Istanbul Medeniyet University (TR)
Openalex Percentile: Top 5%
Genomic variations and chromosomal abnormalities
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