Association of deep phenotypical features with severity of autism in children

Dysmorphology association with severity of autism

Abstract

Objective: To identify deep phenotypical features in children with autism spectrum disorder and their association with the severity of the disease.

Study design: Cross-sectional study

Place and duration of study: Department of Developmental-Behavioral Pediatrics, at the University of Child Health Sciences, The Children’s Hospital, Lahore. Study duration was 6 months from July, 2021 to December, 2021.

Patients and Methods: A sample of 100 children with autism spectrum disorder between the ages of 3-18 years was collected through purposive sampling. Measurements were taken in the form of height, weight, interpalpebral distance, palpebral fissure length, ear length (right and left), philtrum length, hand length, finger length, foot length along with hair pattern, and teeth pattern. On the basis of Autism dysmorphology measure (ADM) score, participants were grouped into dysmorphism and non-dysmorphism. Demographic questionnaire and scores of Childhood autism rating scale 2 (CARS-2) were noted.

Results: On the basis of ADM scoring, 91 children were non-dysmorphic and 9 were dysmorphic. Out of 9 dysmorphic children, 66% (n=6) children had mild to moderate severity of autism and 33% (n=3) had mild autism. However, out of 91 non-dysmorphic children, 38.4%(n=35) had mild autism, 56%(n=51) mild-moderate autism and 5.4% (n=5) severe autism. Results also showed that 8 dysmorphic children were males and 1 was female while 72 males were non-dysmorphic male and 19 females were non-dysmorphic.

Conclusion: Dysmorphism on the basis of ADM scoring was found only in small number of children with ASD, but those were associated with mild to moderate severity of disease.