Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

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

doi:10.1016/j.jpeds.2021.09.060

Cited by 16 publications

(25 citation statements)

References 40 publications

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“…While CFA have not previously shown any association with socioeconomic status, 29 , 57 ID is more prevalent among low socioeconomic groups. 46 , 47 We observed a decreasing trend in the prevalence of ID with decreasing level of socioeconomic disadvantage in the comparison but not the CFA cohort.…”

Section: Discussionmentioning

confidence: 74%

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

et al. 2022

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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.

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Section: Discussionmentioning

confidence: 74%

“… 26 , 27 Furthermore, some maternal antenatal aetiological risk factors including maternal epilepsy, diabetes and advanced maternal age have been associated with CFA and ID separately but not synonymously. 28 , 29 …”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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“…Population‐based data linkage is an important opportunity to associate and connect quite different datasets about individuals at a population level 7 . Studies may be population‐based but not use data linkage such as national surveys 8,9 . Total‐population data linkage is even more powerful, combining a variety of datasets and allowing a match to the individual 8,10–12 .…”

Section: What Is Data Linkagementioning

confidence: 99%

“…Data linkage allows us to delve into some of these more social aspects of oral health. For example, in several of our studies we used geocoding to link with local socio‐economic measures such as Socio‐Economic Indexes for Areas (SEIFA), which is a suite of measures used in Australia to indicate disadvantage in local areas of approximately 250 residences 8,11,30 …”

Section: Data Linkage In Oral Health Researchmentioning

confidence: 99%

“…7 Studies may be population-based but not use data linkage such as national surveys. 8,9 Total-population data linkage is even more powerful, combining a variety of datasets and allowing a match to the individual. 8,[10][11][12] Data linkage provides an opportunity to follow outcomes longitudinally, undertake surveillance on rare diseases or outcomes, monitor health care outcomes and capture healthcare costs.…”

Section: What Is Data Link Ag Ementioning

confidence: 99%

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Why and how we can use data linkage in oral health research: a narrative review

Slack‐Smith

Arena

2023

Comm Dent Oral Epid

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Associated anomalies in Pierre Robin sequence

Stoll

Alembick

Roth

2023

American J of Med Genetics Pt A

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Pierre Robin sequence (PRS) is frequently co‐occurring with other non‐PRS congenital anomalies. The types and the prevalence of anomalies co‐occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co‐occurring with PRS in a well‐studied population northeastern France. The types and the prevalence of anomalies co‐occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979–2007 in the area covered by our registry of congenital anomalies which is population‐based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non‐PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non‐chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.

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Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study

Cited by 16 publications

References 40 publications

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

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

Why and how we can use data linkage in oral health research: a narrative review

Associated anomalies in Pierre Robin sequence

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