颅面畸形、智力障碍和自闭症谱系障碍之间的关联：西澳大利亚基于人群的研究。

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

机构信息

School of Population and Global Health, The University of Western Australia, Clifton Street Building, Clifton Street, Nedlands, 6009, WA, Australia.

Telethon Kids Institute, The University of Western Australia, Northern Entrance, 15 Hospital Avenue, Nedlands, 6009, WA, Australia.

出版信息

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

DOI:10.1038/s41390-022-02024-9

PMID:35352007

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9771801/

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.

摘要

背景

准确了解颅面畸形（CFA）、智力障碍（ID）和自闭症谱系障碍（ASD）之间的关系对于改善服务和结果至关重要。本研究旨在使用人群数据描述 CFA、ID 和 ASD 之间的关联。

方法

从出生、死亡、出生缺陷和助产士人群数据集中确定了所有（1983-2005 年；n=566225）包括颅面裂、颅缝早闭、颅面小颌畸形和下颌面发育不良等 CFA 存活至 5 岁的婴儿。这些数据集的链接数据从出生开始，至少随访 5 年，直到 2010 年在智力障碍数据库中确定 ID 和 ASD。使用改良泊松回归检查这些关联。

结果

CFA（尤其是伴有其他异常）患儿的 ID 和 ASD 患病率高于无 CFA 患儿（患病率比 5.27，95%CI 4.44，6.25）。CFA 患儿的 ID 和 ASD 患病率高于伴有其他胃肠道和泌尿生殖系统异常的患儿，但低于伴有神经系统和染色体异常的患儿。患有 CFA 和严重 ID 的儿童中，神经系统异常的比例更高。

结论

研究结果表明，CFA 患儿中 ID 和 ASD 的发生率较高，但低于神经系统和染色体异常。该人群证据可以提高对 CFA 中 ID/ASD 的早期识别，并支持服务计划。

意义

本研究发现，约十分之一患有颅面畸形（CFA）的儿童后来被诊断为智力障碍（ID）。CFA 患儿的 ID 患病率高于其他胃肠道、泌尿生殖和肌肉骨骼出生缺陷患儿，但低于神经系统和染色体异常患儿。大多数患有颅面畸形的儿童存在轻度至中度智力障碍，病因不明。患有非综合征性颅面畸形的儿童的智力障碍平均比患有综合征性疾病的儿童晚 2 年被诊断。本研究结果可以提高对 CFA 中 ID/ASD 的早期识别，并支持服务计划。