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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.
Insights
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.
Background:
Reports on cognitive outcomes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) are scarce. We present results from neuropsychological assessments of eight patients diagnosed with LCHADD prior to newborn screening with regard to clinical disease severity.
Methods:
Intellectual ability and adaptive and executive functions were assessed using age-appropriate Wechsler Scales, Adaptive Behavior Assessment Scales (ABAS), and Behavior Rating Inventory of Executive Function (BRIEF).
Results:
Five patients performed in the normal range on IQ tests but with lower scores on verbal working memory. In addition, they had lower parent-rated adaptive and executive functions.Three patients had intellectual disabilities with IQs below normal and/or autism spectrum disorders. In addition, they had low results on parent-rated adaptive functions. (Two of these patients had epilepsy.) Conclusions: Patients with LCHADD seem to have a specific cognitive pattern, with presentation as intellectual disability and specific autistic deficiencies or a normal IQ with weaknesses in auditive verbal memory and adaptive and executive functions. Future studies are warranted to investigate whether newborn screening programs and early treatment may promote improved neuropsychological development and outcomes.
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