P2B173: Factor Associated with Phenotypic Characteristics of the Autism Spectrum Disorder (ASD) in Qatar

Background: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder characterized by a wide range of developmental, behavioral, and cognitive phenotypic characteristics. There is scarce data on ASD phenotypic characteristics within the Middle Eastern population. Moreover, there is inconclusive evidence on the phenotypic differences between male and female children with ASD. The aim of this study is to describe the demographics and comorbid conditions of male and female children with ASD in Qatar and to investigate the factors associated with phenotypic characteristics of ASD.

Methods: A cross-sectional study using a questionnaire based on a modified version of the ADOS criteria, was distributed in Arabic and English for caregivers of children following in the outpatient clinic at a tertiary pediatric hospital in Qatar. The questionnaire was collected during the period of 2019 to 2021 and included individuals diagnosed with ASD, determined by DSM-V criteria. Ten phenotypic characteristics of ASD were collected in the questionnaire, which fell under four categories: developmental, behavioral/emotional, cognitive, and sleeping problems. Data on comorbid conditions that co-occur with ASD were also collected and classified into five groups: psychopathology, gastrointestinal, neurologic, cardiovascular, and other comorbid conditions. To compare phenotypic characteristics and comorbidity by sex differences, chi-squared (χ2) test was conducted. Poisson regression was carried out to investigate the factor associated with phenotypic characteristics of the ASD in Qatar.

Results: A total number of ninety-nine children were diagnosed with ASD with a median age of 8.41 years. The majority of patients were males (86.9%) and almost one in four individuals had parents with a history of consanguinity. With regards to phenotypic characteristics, repetitive behavior and attentional problems were significantly more common in males compared to females (76.5% vs 46.2%, p=0.023) and (72.1% vs 38.5%, p=0.016) respectively. In addition, gastrointestinal disturbances were significantly more common in males than females (26.7% vs 0%, respectively, p=0.033). On the other hand, anxiety affected significantly greater percentage of females compared to males (30.8% vs 10.5%, respectively, p=0.043). After multivariable Poisson regression, individuals with ASD and sleep problems had greater count of behavioral phenotypic characteristics (IRR 1.09, 95% CI 0.57-2.09, p= 0.796). Furthermore, a higher count of ASD phenotypic characteristics associated with male sex, with greater incident rate for cognitive characteristics (IRR 1.70, 95% CI 0.66-4.39, p= 0.276), although with weak evidence against the null hypothesis. Moreover, individuals with ASD and neurologic or cardiovascular comorbidities had greater count of developmental delay characteristics (IRR 1.66, 95% CI 0.34-8.02, p= 0.529) and (IRR 2.20, 95% CI 0.59-8.21, p= 0.241), respectively.

Conclusion: Indeed, biologic differences can have an influence on ASD phenotypic characteristics. Further research on genotype-phenotype framework is needed to establish prognosis and customize treatment.