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Dysmorphism in Non-Syndromic Autism: A Cross-Sectional Study
Susan Mary Zachariah1, Samuel Philip Oommen, Caroline Sanjeev Padankatti
1Developmental Paediatrics Unit, Christian Medical College (CMC) and Hospital, Vellore, India. Correspondence to: Dr Susan Mary Zachariah, Developmental Paediatrics Unit, CMC, Vellore, India. suz.mary@gmail.com.
Indian Pediatrics
|February 5, 2017
Summary
Children with autism and dysmorphic markers, termed complex autism, showed poorer developmental outcomes and earlier symptom onset compared to those without these markers. Dysembryogenesis may influence autism
Area of Science:
- Developmental Pediatrics
- Genetics
- Neurodevelopmental Disorders
Background:
- Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with heterogeneous clinical presentations.
- Dysembryogenesis, indicated by the presence of dysmorphic markers, is a potential factor influencing ASD heterogeneity.
Purpose of the Study:
- To investigate the impact of dysembryogenesis, identified by dysmorphic markers, on the developmental trajectory of autistic children.
- To compare developmental profiles and clinical severity between autistic children with and without dysmorphic markers.
Main Methods:
- Classified 26 autistic children into complex autism (with dysmorphic markers) or essential autism (without markers) using the Miles Autism Dysmorphology Measure (ADM).
- Assessed developmental abilities using Griffith's Mental Development Scales and clinical severity via the Childhood Autism Rating Scale.
- Determined dysmorphic marker prevalence in 140 non-autistic controls.
Main Results:
- Children with complex autism exhibited poorer developmental quotients (29.4 vs 34.0, P=0.06) and earlier onset of autistic symptoms (18 vs 24 months, P=0.05).
- Dysmorphic markers were significantly more prevalent in autistic children (27%) compared to controls (10%, P=0.002).
Conclusions:
- Dysembryogenesis, evidenced by dysmorphic markers, appears to contribute to the clinical heterogeneity observed in autism spectrum disorder.
- These findings suggest a potential biological basis for variations in developmental outcomes within the autistic population.
