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. 2024 Aug:151:104769. doi: 10.1016/j.ridd.2024.104769. Epub 2024 Jun 11.

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.

Keywords: 6q25 deletion/translocation; ARID1B; Intellectual disability; Neurodevelopmental disorder.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • ARID1B protein, human
  • Transcription Factors
  • DNA-Binding Proteins

Supplementary concepts

  • Coffin-Siris syndrome