Early Screening and Risk Factors of Autism Spectrum Disorder in a Large Cohort of Chinese Patients With Prader-Willi Syndrome.

Xuejun Kong,Guobin Wan,Ruiyi Tian,Xiaoying Zhang,Jun Liu,Siyu Liu,Zhi Xiang,Clara Hobbie,Yan Han,Xiaojing Lin,Junli Zhu,Madelyn Koh,Hannah T Sherman,Yueping Yin,Bryan Wang,Kevin Liu

doi:10.3389/fpsyt.2020.594934

Abstract

Previous studies regarding the prevalence of Autism Spectrum Disorder (ASD) in patients with Prader-Willi Syndrome (PWS) have implicated heterogenous findings. Additionally, the early screening of ASD high-risk population for ASD and identifying ASD risk factors in PWS patients have not been explored. This study included 218 Chinese PWS patients aged 3 months to 18 years old. 78% of subjects were identified as high risk for ASD by ASQ-3 Communication domain score for those younger than 3 years of age and 84% of subjects were classified as high risk for ASD by the GARS-3 for those aged 3 years and older. Among PWS clinical measurements, under-height (P = 0.0186), overweight (P = 0.0248), and obstructive sleep apnea (P = 0.0259) were each significantly correlated with ASD risk. These risk factors and their internal relationship with ASD or ASD traits warrant further studies.

Highlights

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication and repetitive behaviors and restricted interests [1]
A detailed summary of overall study population characteristics is provided in Table 1, including age, sex, height, body mass index (BMI), genotypes, and observed prevalence of obstructive sleep apnea (OSA)
Among the 218 Chinese Prader-Willi Syndrome (PWS) participants enrolled in this study, we found that 78% of subjects younger than 3 years old were identified as high risk for ASD via ASQ-3, while 84% of subjects aged 3 years or older were identified as high risk for ASD via Gilliam Autism Rating Scale-3 (GARS-3)

Summary

Introduction

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication and repetitive behaviors and restricted interests [1]. Prader-Willi Syndrome (PWS) is a type of syndromic ASD and rare genetic disorder that can be caused by one of the three genetic abnormalities: a paternal deletion of the 15q11.2–q13 region, maternal uniparental disomy (mUPD), or an imprinting defect (ID) [6, 7]. Studies suggest that the prevalence of ASD in PWS ranges from 12.7 to 40% with significant overlaps in their clinical features [8,9,10,11,12,13,14]. The early identification and screening of individuals with PWS that are at risk for ASD will help facilitate early intervention, which can significantly impact their prognosis, highlighting the need for further studies. The sample sizes in these studies were limited and the milder and broader phenotypes were not explored nor included in the reported prevalence

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