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Published on: April 22, 2015
Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report
1Department of Child and Adolescent Psychiatry, Batman Iluh State Hospital, Batman, Türkiye.
Noro Psikiyatri Arsivi
|March 4, 2026
Summary
Floating-Harbor Syndrome (FHS), a rare genetic disorder, can present with symptoms overlapping autism spectrum disorder (ASD). Comprehensive genetic and psychiatric evaluations are crucial for accurate diagnosis in children with complex developmental profiles.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Rare Diseases
Background:
- Autism Spectrum Disorder (ASD) exhibits significant genetic heterogeneity.
- Floating-Harbor Syndrome (FHS) is a rare genetic disorder caused by SRCAP mutations, presenting with short stature, language delays, and unique facial features.
Purpose of the Study:
- To present the diagnostic process and clinical challenges in a child with both FHS and ASD.
- To highlight the importance of differentiating syndrome-specific features from comorbid ASD.
Main Methods:
- Case report of a 9-year-old boy with social communication difficulties and behavioral issues.
- Psychometric and behavioral assessments for ASD diagnosis (DSM-5 criteria).
- Genetic evaluation confirming FHS due to an SRCAP mutation, prompted by elevated amylase and lipase.
Main Results:
- The child was diagnosed with ASD and FHS.
- Overlapping symptoms like language delay and behavioral problems complicated the diagnostic differentiation.
- Genetic testing confirmed an SRCAP mutation, confirming FHS.
Conclusions:
- Differentiating syndrome-specific features from comorbid ASD is challenging due to overlapping symptoms.
- Comprehensive psychiatric and genetic evaluations are essential for complex developmental profiles.
- Systematic screening for neurodevelopmental disorders in rare genetic syndromes is needed.
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