A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.

Victoria Liu, Eva Hanson, Joshua W Owens, Robert J Hopkin, Amelle Shillington

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Article in Brain and behavior, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Victoria LiuUniversity of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Eva HansonUniversity of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Joshua W OwensDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Robert J HopkinDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Amelle ShillingtonDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID https://orcid.org/0000-0002-7447-8117

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThis case discusses the limits of neurodevelopmental functioning attributable to Duchenne's Muscular Dystrophy (DMD) dysfunction.

methodA 3-year-old male presented with global developmental delay, growth failure, and dysmorphic facial features. An SNP microarray revealed an interstitial duplication in exon 55 of DMD suggestive of Becker Muscular Dystrophy (BMD), but his degree of delays led to follow-up exome sequencing revealing a pathogenic CSNK2A1 variant diagnostic for Okur-Chung Neurodevelopmental Syndrome.

findingsLarge cohorts predict a full-scale IQ (FSIQ) of 88.3 ± 13.9 among all patients with BMD and 86.1 ± 15.0 among all patients with DMD, while variants impacting the brain dystrophin isoform Dp140 are associated with FSIQ of 77.7 ± 10.8 in BMD and 78.8 ± 18.6 in DMD.

conclusionAn FSIQ one standard deviation below these expected ranges should prompt screening for alternative causes of neurodevelopmental delays, and an FSIQ two standard deviations below these ranges should prompt broad-spectrum genetic testing.

Indexed as

Developmental DisabilitiesMuscular Dystrophy, DuchenneNeurodevelopmental DisordersChild, PreschoolDystrophinHumansMaleDystrophinBecker Muscular DystrophyDMD geneDuchenne Muscular DystrophyOkur–Chung Neurodevelopmental Syndrome

Identifiers

PMID39915227

DOI10.1002/brb3.70276

PMCPMC11802274

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