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This page is an AI-assisted Turkish summary of the study presented at the 26th World Congress of Psychiatry. The study belongs to the presenting authors; please refer to the original source when citing it.

EV0155

Phenotyping autism spectrum disorder: a structured framework integrating developmental and perinatal factors

PHENOTYPING AUTISM SPECTRUM DISORDER: A STRUCTURED FRAMEWORK INTEGRATING DEVELOPMENTAL AND PERINATAL FACTORS

Structured phenotyping that integrates developmental, behavioral, sensory, and perinatal information may improve phenotypic stratification and clinical assessment in autism spectrum disorder.

The aim of the study was to present a structured framework for clinician training in autism spectrum disorder (ASD) phenotyping by integrating developmental assessment with perinatal risk factors. As part of the Advanced Phenotyping and Genetic Analysis of Autism Spectrum Disorder project conducted in the Republic of Moldova, a preliminary cohort of 29 children diagnosed with ASD and their parents was assessed; the mean age was 10.8 ± 4.3 years, the age range was 1.8–17 years, and there were 24 male participants (82.8%) and 5 female participants (17.2%). Phenotyping combined a structured eight-domain framework, developmental assessment, the ADI-R, and systematic collection of prenatal and perinatal data; associations were analyzed using chi-square tests. Developmental regression was identified in 62% of cases and was associated with attention deficits (p = 0.02), speech impairment (p = 0.01), and safety-related risks (p = 0.04); sensory abnormalities were observed in 79% and were associated with anxiety (p < 0.01) and behavioral dysregulation (p = 0.02). Joint attention was reduced in 51.7% of participants and showed a strong association with communication (χ² = 18.9, df = 4, p < 0.001, Cramér's V = 0.57); regarding developmental milestones, 82.8% achieved sitting and 75.9% achieved walking within the expected age range, whereas delayed speech onset was found in 69.0%, indicating that motor development was relatively preserved while language development was frequently delayed. At least one perinatal risk factor was present in 58.6% of participants: umbilical cord complications in 20.7%, maternal illnesses/infections in 20.7%, prematurity in 17.2%, and high-risk pregnancy in 17.2%. According to the authors, structured phenotyping supports multidimensional ASD assessment and clinician training, highlighting associations among regression, sensory abnormalities, attention, communication, and behavioral regulation.

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