title: Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
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.
authors.affiliation: Department of Women and Children's Health, Karolinska Institutet, 171 76, Stockholm, Sweden.|Department of Psychology, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Strandqvist
authors.affiliation: Department of Women and Children's Health, Karolinska Institutet, 171 76, Stockholm, Sweden. charlotte.haglind@ki.se.|Department of Pediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden. charlotte.haglind@ki.se.
authors.forename: C Bieneck
authors.initials: CB
authors.lastname: Haglind
authors.affiliation: Departments of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.|Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: R H
authors.initials: RH
authors.lastname: Zetterström
authors.affiliation: Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.|Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Nemeth
authors.affiliation: Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.|Department of Laboratory Medicine, Division for Metabolic Diseases, Karolinska Institutet, Stockholm, Sweden.
authors.forename: U
authors.initials: U
authors.lastname: von Döbeln
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
authors.forename: M Halldin
authors.initials: MH
authors.lastname: Stenlid
authors.affiliation: Department of Women and Children's Health, Karolinska Institutet, 171 76, Stockholm, Sweden.|Department of Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Nordenström
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