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Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
A Strandqvist1,2, C Bieneck Haglind3,4, R H Zetterström5,6
1Department of Women and Children's Health, Karolinska Institutet, 171 76, Stockholm, Sweden.
JIMD Reports
|November 8, 2015
Summary
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) can impact cognitive function. Patients may show intellectual disability or normal IQ with specific deficits in verbal memory and executive functions.
Area of Science:
- Biochemistry
- Neuroscience
- Genetics
Background:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder.
- Cognitive outcome data for LCHADD patients, particularly those diagnosed prenatally, are limited.
Purpose of the Study:
- To investigate the neuropsychological profile of patients with LCHADD diagnosed before newborn screening.
- To correlate cognitive outcomes with clinical disease severity in LCHADD.
Main Methods:
- Neuropsychological assessments were conducted on eight LCHADD patients.
- Evaluated intellectual ability, adaptive functions, and executive functions using Wechsler Scales, ABAS, and BRIEF.
Main Results:
- Five patients had normal IQs but showed deficits in verbal working memory and parent-rated adaptive/executive functions.
- Three patients presented with intellectual disabilities, autism spectrum disorders, and low adaptive function scores; two had epilepsy.
Conclusions:
- LCHADD is associated with a distinct cognitive pattern, ranging from intellectual disability and autistic features to normal IQ with specific executive and memory impairments.
- Early detection through newborn screening and timely intervention may improve neuropsychological outcomes in LCHADD.
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