Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

Véronique Abadie,Gaelle Malecot,Stanislas Lyonnet,Tania Attie-Bitach,Frédéric Bilan,Brigitte Gilbert-Dussardier,Laurence Vaivre-Douret,Marine Legendre,Stéphanie Ragot,Priscilla Hamiaux,Alexia Burtin

doi:10.1186/s13023-020-01421-9

Abstract

BackgroundBehavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional study, we used specific standardized tools for diagnosing autism (Autism Diagnostic Interview-Revised and Diagnostic and Statistical Manual of Mental Disorders, 5th edition, DSM-5) and evaluating behavioral disorders (Developmental Behavior Checklist-Parents, DBC-P) to investigate a series of individuals with CHARGE syndrome, defined by Verloes’s criteria. We evaluated their adaptive functioning level and sensory particularities and extracted several data items from medical files to assess as potential risk factors for autism and/or behavioral disorders.ResultsWe investigated 64 individuals with CHARGE syndrome (35 females; mean age 10.7 years, SD 7.1 years). Among 46 participants with complete results for the Autism Diagnostic Interview-Revised (ADI-R), 13 (28%) had a diagnosis of autism according to the ADI-R, and 25 (54%) had a diagnosis of autism spectrum disorder (ASD) according to the DSM-5 criteria. The frequency of autistic traits in the entire group was a continuum. We did not identify any risk factor for ASD but found a negative correlation between the ADI-R score and adaptive functioning level. Among 48 participants with data for the DBC-P, 26 (55%) had behavioral disorders, which were more frequent in patients with radiological brain anomalies, impaired adaptive functioning, later independent walking, and more sensory particularities.ConclusionsASD should be considered to be an independent risk requiring early screening and management in children born with CHARGE syndrome.

Highlights

CHARGE syndrome (CS) is a rare genetic condition that can feature multiple disabilities, including variable occurrence of (C) coloboma, (H) heart defects, (A) atresia of choanae, (R) retardation of growth or development, (G) genital hypoplasia, and (E) ear abnormalities and deafness [1]
To investigate autism spectrum disorder (ASD), we interviewed parents with the Autism Diagnostic Interview Revised (ADI-R) questionnaire and used the responses to the Autism Diagnostic Interview-Revised (ADI-R) to determine the presence of the criteria described in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) [23,24,25]
Potential determinants of behavioral disorders We found a significant positive correlation between Developmental behavior checklist–parents (DBC-P) scores and the brain anomaly score, late age of independent walking, sensory particularities and adaptive functioning impairment

Summary

Introduction

CHARGE syndrome (CS) is a rare genetic condition that can feature multiple disabilities, including variable occurrence of (C) coloboma, (H) heart defects, (A) atresia of choanae, (R) retardation of growth or development, (G) genital hypoplasia, and (E) ear abnormalities and deafness [1]. In a large national cross-sectional study, we used specific standardized tools for diagnosing autism (Autism Diagnostic Interview-Revised and Diagnostic and Statistical Manual of Mental Disorders, 5th edition, DSM-5) and evaluating behavioral disorders (Developmental Behavior Checklist-Parents, DBC-P) to investigate a series of individuals with CHARGE syndrome, defined by Verloes’s criteria. We evaluated their adaptive functioning level and sensory particularities and extracted several data items from medical files to assess as potential risk factors for autism and/or behavioral disorders

Methods

Results

Conclusion