Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

Title

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

Creator

Jamiolkowski D; Kolker S; Glahn E M; Baric I; Zeman J; Baumgartner M R; Muhlhausen C; Garcia-Cazorla A; Gleich F; Haege G; Burgard P

Publisher

Journal of Inherited Metabolic Disease

Date

2016

Subject

Male; Humans; Female; Child Preschool; Emotions; Quality of Life; Intellectual Disability/etiology/metabolism; Mental Disorders/etiology/metabolism; Metabolic Diseases/complications/metabolism; Metabolism Inborn Errors/complications/metabolism; Ornithine Carbamoyltransferase Deficiency Disease/complications/metabolism; Urea Cycle Disorders Inborn/complications/metabolism; alertness; behavioral problems; bowel incontinence; feeding difficulties; sleep disturbance; urinary incontinence; trajectory; characteristics; emotional problems

Description

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.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation

Jamiolkowski D; Kolker S; Glahn E M; Baric I; Zeman J; Baumgartner M R; Muhlhausen C; Garcia-Cazorla A; Gleich F; Haege G; Burgard P, “Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders,” Pediatric Palliative Care Library, accessed September 24, 2021, https://pedpalascnetlibrary.omeka.net/items/show/16698.

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