title: Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
abstract: BACKGROUND
  Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected.
  
  
  METHODS
  Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data.
  
  
  RESULTS
  Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31% of OAD, 43% of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95%CI: 1.39-27.99), but HRQoL was independent from both variables.
  
  
  CONCLUSIONS
  Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients' HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
authors: Dagmar
authors: D
authors: Jamiolkowski
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
authors: Stefan
authors: S
authors: Kölker
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
authors: Esther M
authors: EM
authors: Glahn
authors: Department of Pediatrcis, University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.
authors: Ivo
authors: I
authors: Barić
authors: Department of Pediatrics, General Faculty Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors: Jiri
authors: J
authors: Zeman
authors: Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.|Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program, University of Zurich, Zurich, Switzerland.|Zurich Centre for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
authors: Matthias R
authors: MR
authors: Baumgartner
authors: University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
authors: Chris
authors: C
authors: Mühlhausen
authors: Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
authors: Angels
authors: A
authors: Garcia-Cazorla
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
authors: Florian
authors: F
authors: Gleich
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
authors: Gisela
authors: G
authors: Haege
authors: Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Peter.Burgard@med.uni-heidelberg.de.
authors: Peter
authors: P
authors: Burgard
mesh_terms: D002675:Child, Preschool; D004644:Emotions; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology* / Q000378:metabolism; D008297:Male; D001523:Mental Disorders / Q000209:etiology* / Q000378:metabolism; D008659:Metabolic Diseases / Q000150:complications* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications / Q000378:metabolism; D011788:Quality of Life; D056806:Urea Cycle Disorders, Inborn / Q000150:complications* / Q000378:metabolism