![]() The frequency of autism spectrum disorder (ASD) in individuals with CS ranges from 9 to 68% depending on the ASD definition used. Compared with deaf-blind people, individuals with CS show fewer self-regulation abilities along with more ritualistic, stereotyped, and self-stimulation behaviors. Individuals with CS appear to have better communication skills and more interest in social relationships than people with autism. In CS, some of these behaviors are similar to autistic traits, which explains why authors talk about “autistic-like behaviors” when describing them. No consensual definition exists for behavioral disorders, which can nonetheless be described as behaviors that deviate from social, cultural, or developmental norms and significantly harm the individual or his/her environment. However, for many years, parents, caregivers and professionals have reported that children with CS often have behavioral disorders, anxiety, obsessive-compulsive disorders, and sensory particularities. īehavioral disorders are neither specified nor included in the syndrome definition. proposed inclusion of the pathogenic CHD7 variant status as a major criterion of CS diagnosis. ![]() Blake in 1998 and were revised in 20 by A. Diagnostic criteria were proposed by K.D. Most individuals (around 80%) with CS have mutations in the chromodomain-helicase-DNA-binding protein 7 (CHD7) gene, but the diagnosis of CS remains clinical. Other possible malformations and deficits added later include arhinencephaly resulting in hyposmia, anomalies of the semicircular canals producing vestibular dysfunction, and cranial nerve and brainstem dysfunction, which lead to feeding and respiratory difficulties during the first years of life. ConclusionsĪSD should be considered to be an independent risk requiring early screening and management in children born with CHARGE syndrome.ĬHARGE 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. 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. We did not identify any risk factor for ASD but found a negative correlation between the ADI-R score and adaptive functioning level. The frequency of autistic traits in the entire group was a continuum. 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. We investigated 64 individuals with CHARGE syndrome (35 females mean age 10.7 years, SD 7.1 years). 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. 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. ![]() The similarity of their behavioral traits with those of people with autism raises questions. Behavioral problems are an important issue for people with CHARGE syndrome.
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