The Co-Occurrence of Autism Spectrum Disorder and Aarskog–Scott Syndrome in an Accomplished Young Man

TL;DR

This case study explores a young man with Aarskog–Scott syndrome and autism spectrum disorder, highlighting complex neurodevelopmental features.

Contribution

The study reports a novel FGD1 genetic variant and emphasizes the under-recognized co-occurrence of ASD in Aarskog–Scott syndrome.

Findings

The patient met diagnostic criteria for ASD with preserved nonverbal IQ but impaired adaptive functioning.

Literature review found 4.0% ASD prevalence in AAS cases, suggesting higher rates than in the general population.

Neurodevelopmental comorbidities in AAS may be underestimated due to limited comprehensive assessments in prior studies.

Abstract

Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS.

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