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

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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 March 28, 2024, https://pedpalascnetlibrary.omeka.net/items/show/16698.