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Res Dev Disabil ; 151: 104769, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38865789

ABSTRACT

ARID1B-related disorders constitute a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability (ID) with or without nonspecific dysmorphic features. Here, we describe an 11-year-old boy with an ARID1B mutation whose phenotype changed from severe developmental delay and ID to a complex neurodevelopmental disorder with multidimensional impairments, including normal intelligence despite heterogeneous IQ scores, severe motor coordination disorder, oral language disorder and attention-deficit/hyperactivity disorder. Phenotypic changes occurred after early intensive remediation and paralleled the normalization of myelination impairments, as evidenced by early brain imaging. WHAT THIS PAPER ADDS?: This report describes a 10-year multidisciplinary follow-up of a child with an ARID1B mutation who received early intensive remediation and whose phenotype changed during development. Clinical improvement paralleled the normalization of myelination impairments. This case supports a dimensional approach for complex neurodevelopmental disorders.


Subject(s)
DNA-Binding Proteins , Intellectual Disability , Micrognathism , Phenotype , Transcription Factors , Humans , Male , Child , Intellectual Disability/genetics , Transcription Factors/genetics , DNA-Binding Proteins/genetics , Micrognathism/genetics , Micrognathism/diagnostic imaging , Follow-Up Studies , Face/abnormalities , Face/diagnostic imaging , Brain/diagnostic imaging , Brain/abnormalities , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnostic imaging , Neck/abnormalities , Neck/diagnostic imaging , Attention Deficit Disorder with Hyperactivity/genetics , Magnetic Resonance Imaging , Neurodevelopmental Disorders/genetics , Abnormalities, Multiple/genetics , Abnormalities, Multiple/diagnostic imaging , Developmental Disabilities/genetics , Motor Skills Disorders/genetics , Mutation , Foot Deformities, Congenital/genetics , Foot Deformities, Congenital/diagnostic imaging , Joint Instability/diagnostic imaging , Joint Instability/genetics
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