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

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.

Genetic networks suggest Asperger’s Syndrome as a distinct subtype of Autism Spectrum Conditions

“…Further investigations showed that these abnormalities in gene expression were associated with epilepsy and/or craniofacial abnormalities (Suzuki et al, 2020). Worth mentioning that a western Australian population-based study showed that craniofacial abnormalities are associated with high incidence of Autism spectrum conditions(Junaid et al, 2022). The module is associated with decreased catabolic process for protein.…”

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

“…The subject had no problem in loss of acquired motor skills and loss of acquired language skills. The Gupta et al 10.3389/fpsyt.2023.1251884 subject had behavioral issues, and displaying withdrawn behavior at home and in public, but there was no loss of acquired social skills. There are no reported neurodevelopmental issues on the father or mother's side of the family, except for one of the mother's brothers having eye issues.…”

“…Individuals with ASD often experience co-occurring mental, neurological, or physical comorbidities such as intellectual disability (ID), seizures, sleep disturbances, craniofacial anomalies, and gastrointestinal issues, suggesting more complex genetic etiologies (5)(6)(7)(8)(9)(10). Genetic factors play a significant role in ASD, with evidence of variants in numerous genes contributing to ASD risk (1,(11)(12)(13)(14)(15).…”

Behavioral guidance for improving dental care in autistic spectrum disorders

“…Children with ASD may present not only dental caries but also traumatic injuries ( 14 ), sometimes self-inflicted, saliva drooling or bruxism ( 15 ), and a higher plaque index ( 16 ). Although very scarce data on the co-occurrence of craniofacial anomalies and ASD are present in the literature, children with those anomalies present a higher prevalence of ASD ( 17 ); hence, it is worth considering the possible involvement of connective tissue in ASD pathogenesis ( 18 ). Dental treatment aims to correct the acquisition and maintenance of oral functions.…”