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

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.

Citation

Junaid M, Slack-Smith L, Wong K, Bourke J, Baynam G, Calache H, Leonard H. Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study. Pediatric Research. 2022 Mar 29:1-0

Background

Individuals with craniofacial anomalies encounter many challenges apart from structural defects, including feeding, hearing and speech difficulties that require multidisciplinary care. Repeated episodes of hospitalisations may be associated with emotional disturbances and social isolation leading to high absences from school. In addition to physical health, cognitive development is an area of concern.

What we did

All individuals born 1983-2005 were linked to the Western Australian Register of Developmental Anomalies—Birth Defects (to identify those with craniofacial anomalies), to the IDEA database (to identify those with intellectual disability or autism) and to the Midwives Notification System and Births Register. Craniofacial anomalies cases were categorised depending on the presence of orofacial clefts only or alongside other syndromic conditions. Associations of intellectual disability with craniofacial anomalies were reported as prevalence ratios.

What we found

Of the 1421 children identified with craniofacial anomalies, around 1 in 10 were identified with intellectual disability and 0.8% were identified as having autism with or without comorbid intellectual disability.

What it means

This paper provides evidence that can improve early identification of intellectual disability or autism among individuals with craniofacial anomalies and support service planning.