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Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review
Marilyn T Miller1, Kerstin Strömland, Liana Ventura
1Department of Ophthalmology and Visual Sciences, University of Illinois, 1855 West Taylor Street, Rm. 327, Chicago, IL 60612, USA. marimill@uic.edu
Summary
Early embryonic development errors, particularly those causing malformations, are linked to autism spectrum disorder (ASD). These developmental insults may occur as early as weeks 4-6 of embryogenesis.
Area of Science:
- Developmental Neuroscience
- Clinical Genetics
- Pediatric Neurology
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with multifactorial etiology.
- While genetics play a role, environmental factors and early developmental disruptions are increasingly recognized.
- Malformations and dysfunctions stemming from early embryogenesis defects warrant further investigation in relation to ASD.
Purpose of the Study:
- To review findings from five studies examining autism spectrum disorder in individuals with malformations linked to early embryonic defects.
- To explore the association between specific congenital anomalies and the presentation of ASD.
- To investigate the potential timing of developmental insults during embryogenesis.
Main Methods:
- Review of five independent studies focusing on individuals with autism spectrum disorder and congenital malformations.
- Inclusion of studies involving teratogen exposure (thalidomide, misoprostol) and conditions with unknown etiology (Mobius sequence, CHARGE association, Goldenhar syndrome).
- Analysis of reported malformations including cranial nerve palsies, ear, and ophthalmologic anomalies, alongside systemic malformations.
Main Results:
- A statistically significant higher frequency of autism spectrum disorder was observed in populations with specific early embryonic malformations compared to the general population.
- Conditions reviewed included thalidomide embryopathy, Mobius sequence, CHARGE association, and Goldenhar syndrome.
- Commonly associated malformations involved cranial nerves, auditory and visual systems, and other systemic defects.
Conclusions:
- Early embryonic development errors, potentially occurring between weeks 4-6 of gestation, are associated with autism spectrum disorder.
- Congenital malformations affecting cranial nerves, sensory organs, and systemic development may indicate an increased risk or co-occurrence with ASD.
- Further research is needed to pinpoint the precise timing and mechanisms of these early developmental insults.