ArticleJIMD reports2016
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- A Prospective Birth Cohort Study on the Association Between Cord Blood Acylcarnitine Profile and Childhood Risk of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Article
- The Role of Acyl-CoA β-Oxidation in Brain Metabolism and Neurodegenerative Diseases.International journal of molecular sciences · 2023Review
- Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.JIMD reports · 2022Article
- Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review.TouchREVIEWS in endocrinology · 2021Review
- Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder.Journal of personalized medicine · 2021Article
- Clinical manifestations and management of fatty acid oxidation disorders.Reviews in endocrine & metabolic disorders · 2020Review
- The neural stem cell/carnitine malnutrition hypothesis: new prospects for effective reduction of autism risk?The Journal of biological chemistry · 2019Review
- Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder.International journal of molecular sciences · 2019Review
- A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.Frontiers in psychiatry · 2018Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundReports 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.
methodsIntellectual 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).
resultsFive 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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