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Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study

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posted on 2023-08-21, 04:35 authored by Mohammed Junaid, Linda Slack-Smith, Kingsley Wong, Jenny Bourke, Gareth Baynam, Hanny CalacheHanny Calache, Helen Leonard

Background: Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data. Methods: All births (1983–2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets. Linked data from these data sets were followed for a minimum of 5 years from birth until 2010 in the intellectual disability database to identify ID and ASD. These associations were examined using a modified Poisson regression. Results: Prevalence of ID and ASD was higher among CFA (especially with additional anomalies) than those without [prevalence ratio 5.27, 95% CI 4.44, 6.25]. It was higher among CFA than those with other gastrointestinal and urogenital anomalies but lower than nervous system and chromosomal anomalies. Children with CFA and severe ID had a higher proportion of nervous system anomalies. Conclusions: Findings indicate increased ID and ASD among CFA but lower than nervous system and chromosomal anomalies. This population evidence can improve early identification of ID/ASD among CFA and support service planning. 


MJ is being supported by the Australian Government International Research Training Program Scholarship and the Stan and Jean Perron Top-Up Scholarship. H.L. is funded by National Health and Medical Research Council (NHMRC) Senior Research Fellowship APP1117105.


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Pediatric Research




10p. (p. 1795-1804)


Springer Nature



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