Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.
Res Dev Disabil
; 151: 104769, 2024 Aug.
Article
en En
| 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.
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Base de datos:
MEDLINE
Asunto principal:
Fenotipo
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Factores de Transcripción
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Proteínas de Unión al ADN
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Discapacidad Intelectual
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Micrognatismo
Idioma:
En
Revista:
Res Dev Disabil
Asunto de la revista:
TRANSTORNOS MENTAIS
Año:
2024
Tipo del documento:
Article