SYNDROMES AND DYSMORPHIC FEATURES IN CHILDREN WITH AUTISM SPECTRUM DISORDER: A SYSTEMATIC REVIEW

Abstract

Autism Spectrum Disorder (ASD) is a non-homogeneous neurodevelopmental disorder with symptoms that comprise deficiency in social communication, limited interests, and repetitive behaviors. Even though there are no predictable physical/dysmorphic characteristics that are directly linked to ASD, a large percentage of ASD patients have identifiable genetic syndromes that share characteristic dysmorphic, cognitive, and behavioral phenotypes. This systematic review is a synthesis of evidence in genetic syndromes that are typically linked to ASD and how dysmorphic features can be used in the process of differential diagnosis and clinical treatment. Peer-reviewed articles published in the period between 2000 and 2025 in electronic databases such as PubMed, Scopus, Web of Science, or PsycINFO were searched. Results have shown that Fragile X Syndrome, Down Syndrome, Rett Syndrome, Williams Syndrome, and Prader-Willi Syndrome are common syndromes that are often coupled with ASD phenotypes and manifest dysmorphic characteristics. The review has identified the significance of genetic assessment in children with ASD and has noted implications of diagnosis, prognosis, the planning of interventions, and genetic counselling. The study concludes that recognizing dysmorphic features and associated genetic syndromes in children with ASD is essential for accurate diagnosis, personalized intervention, and informed genetic counselling.