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

Mohammed Junaid; Linda Slack-Smith; Kingsley Wong; Jenny Bourke; Gareth Baynam; Hanny Calache; Helen Leonard

doi:10.1038/s41390-022-02024-9

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

Pediatr Res. 2022 Dec;92(6):1795-1804. doi: 10.1038/s41390-022-02024-9. Epub 2022 Mar 29.

Authors

Mohammed Junaid^{1

2}, Linda Slack-Smith^{3

4}, Kingsley Wong⁴, Jenny Bourke⁴, Gareth Baynam^{4

5}, Hanny Calache^{6

7}, Helen Leonard⁴

Affiliations

¹ School of Population and Global Health, The University of Western Australia, Clifton Street Building, Clifton Street, Nedlands, 6009, WA, Australia. mohammed.junaid@research.uwa.edu.au.
² Telethon Kids Institute, The University of Western Australia, Northern Entrance, 15 Hospital Avenue, Nedlands, 6009, WA, Australia. mohammed.junaid@research.uwa.edu.au.
³ School of Population and Global Health, The University of Western Australia, Clifton Street Building, Clifton Street, Nedlands, 6009, WA, Australia.
⁴ Telethon Kids Institute, The University of Western Australia, Northern Entrance, 15 Hospital Avenue, Nedlands, 6009, WA, Australia.
⁵ Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁶ Deakin Health Economics, Institute of Health Transformation, School of Health and Social Development, Faculty of Health, Deakin University, Geelong, VIC, Australia.
⁷ Department of Dentistry and Oral Health, La Trobe Rural Health School, La Trobe University, Bendigo, VIC, Australia.

Abstract

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.

Impact: Our study found about one in ten children born with craniofacial anomalies (CFA) are later identified with intellectual disability (ID). Prevalence of ID among CFA was higher than those with other gastrointestinal, urogenital, and musculoskeletal birth defects but lower than those with the nervous system and chromosomal abnormalities. Most children with craniofacial anomalies have a mild-to-moderate intellectual disability with an unknown aetiology. On average, intellectual disability is identified 2 years later for children born with non-syndromic craniofacial anomalies than those with syndromic conditions. Our findings can improve the early identification of ID/ASD among CFA and support service planning.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Australia
Autism Spectrum Disorder* / diagnosis
Autism Spectrum Disorder* / epidemiology
Child
Cleft Lip*
Cleft Palate* / epidemiology
Female
Humans
Intellectual Disability* / epidemiology
Pregnancy