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Comorbid Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder in a Patient with 6q25.1-Q25.3
Mehmet Sezgin1, Oğuzhan Koyuncu1, Mustafa Güneş2
1Department of Child and Adolescent Psychiatry, Istanbul Medeniyet University Faculty of Medicine, Göztepe Prof. Dr. Süleyman Yalçın City Hospital, Istanbul, Türkiye.
Developmental Neuropsychology
|May 18, 2026
Summary
This case report details a 16-year-old male with 6q25 microdeletion syndrome, presenting with Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD). Treatment with olanzapine stabilized behavioral symptoms, highlighting the need for psychiatric evaluation in rare chromosomal disorders.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- 6q25 microdeletion syndrome is a rare genetic disorder.
- Comorbid Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are infrequently documented in this syndrome.
- Intellectual disability and dysmorphism are common features.
Purpose of the Study:
- To report a case of 6q25 microdeletion syndrome with comorbid ASD and ADHD.
- To highlight the neurobehavioral implications of genes within the 6q25 region.
- To emphasize the importance of comprehensive psychiatric assessment in rare chromosomal aberrations.
Main Methods:
- Case report of a 16-year-old male with a 6.7 Mb deletion at 6q25.1-q25.3.
- Clinical evaluation including assessment for ASD (CARS score: 52) and ADHD.
- Pharmacological intervention with olanzapine (5 mg/day) for behavioral symptoms.
Main Results:
- The patient presented with hydrocephalus, cerebral palsy, and severe behavioral dysregulation.
- Comorbid ASD and ADHD were confirmed.
- Olanzapine effectively stabilized behavioral symptoms and aggression.
Conclusions:
- This is the first report of ASD/ADHD co-occurrence in 6q25 microdeletion syndrome.
- Genes such as ARID1B and SYNE1 may play a role in the neurobehavioral phenotype.
- Comprehensive psychiatric evaluations are crucial for individuals with rare chromosomal aberrations.
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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