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Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

  • A. Strandqvist
  • C. Bieneck HaglindEmail author
  • R. H. Zetterström
  • A. Nemeth
  • U. von Döbeln
  • M. Halldin Stenlid
  • A. Nordenström
Research Report
Part of the JIMD Reports book series (JIMD, volume 28)

Abstract

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.

Keywords

Beta-oxidation disorder Children Cognitive outcome Cognitive profile Fatty acid oxidation disorder Inborn error of metabolism LCHAD Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Neuropsychological development 

Abbreviations

ABAS

Adaptive Behavior Assessment System®

ASD

Autism spectrum disorder

BRIEF

Behavior Rating Inventory of Executive Function®

DHA

Docosahexaenoic acid

FAOD

Fatty acid oxidation defect

GAC

General Adaptive Composite

GEF

Global executive function

LCHADD

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCT

Long-chain triglyceride

MCT

Medium-chain triglyceride

MTP

Mitochondrial trifunctional protein

Notes

Acknowledgments

We are greatly indebted to all the families who participated in the study and to all our collaborators at the Center for Inherited Metabolic Diseases for skillful laboratory knowledge. The study was supported by grants from the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and the Karolinska Institute and Uppsala County and Uppsala University, the Swedish Order of Freemasons (Frimurare Barnhuset), HRH Crown Princess Lovisa’s Association for Child Medical Care (HKH Kronprinsessan Lovisas förening för barnasjukvård), and the Swedish Neuropsychological Society.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • A. Strandqvist
    • 1
    • 2
  • C. Bieneck Haglind
    • 1
    • 3
    Email author
  • R. H. Zetterström
    • 4
    • 5
  • A. Nemeth
    • 6
    • 7
  • U. von Döbeln
    • 5
    • 8
  • M. Halldin Stenlid
    • 9
  • A. Nordenström
    • 1
    • 10
  1. 1.Department of Women and Children’s HealthKarolinska InstitutetStockholmSweden
  2. 2.Department of PsychologyKarolinska University HospitalStockholmSweden
  3. 3.Department of PediatricsAstrid Lindgren Children’s Hospital, Karolinska University HospitalStockholmSweden
  4. 4.Departments of Molecular Medicine and SurgeryKarolinska InstitutetStockholmSweden
  5. 5.Center for Inherited Metabolic Diseases, Karolinska University HospitalStockholmSweden
  6. 6.Department of Clinical Science, Intervention and TechnologyKarolinska InstitutetStockholmSweden
  7. 7.Department of Pediatric Gastroenterology, Hepatology and NutritionKarolinska University HospitalStockholmSweden
  8. 8.Department of Laboratory Medicine, Division for Metabolic DiseasesKarolinska InstitutetStockholmSweden
  9. 9.Department of Women’s and Children’s HealthUppsala UniversityUppsalaSweden
  10. 10.Department of Pediatric EndocrinologyAstrid Lindgren Children’s Hospital, Karolinska University HospitalStockholmSweden

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