Citation: Jamiolkowski D, Kölker S, Glahn EM, et al. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis. 2016;39(2):231-241. doi:10.1007/s10545-015-9887-8.
Purpose: To perform an exploratory data analysis of patients with urea cycle disorders (UCDs) (n=52) and organic acidurias (n=100) over 3 domains (behavioral/emotional problemsa, intellectual functioningb, and health-related quality of life [HRQoL]c) subdivided into 10 different componentsd, and to investigate how these 3 domains are interrelated and/or affect the lives of patients and their families.
- Among patients with UCDs, multiple components were found to interfere with family life, including attention problems, dysphoria, dissocial behavior (in 20%-30% of patients), and anxiety, autistic, self-damaging or withdrawing behaviors, and self-regulation problems (in 10%-20% of patients).
- HRQoL was shown to be associated with the social and emotional areas of the assessments, rather than those of physical and academic functioning.
- Of patients assessed by neurocognitive testing, 43% of patients with UCDs were found to be intellectually disabled, compared with 31% of patients with organic acidurias (n=37 and n=88, respectively).
- No statistical effect of behavioral/emotional problems or intellectual functioning on HRQoL were found; however this may be explained by the “disability paradox,” in which individuals with moderate to serious disabilities report having an excellent or good quality of life, as they focus on their coping facilities and strengths rather than their weaknesses, failures, or unpleasant experiences.
- The impact on family life demonstrated in this study is consistent with a caregiver survey that revealed the life-changing nature of having a child with a UCD, which can result in emotional and financial stress for parents.1
bAssessment by standardized IQ tests (Wechsler Adult Intelligence Scale [WAIS-IV], Wechsler Intelligence Scale for Children [WISC-IV], and Wechsler Preschool and Primary Scale of Intelligence [WPPSI-III]), developmental tests (Denver Developmental Screening Test [DDST-II]), or expert rating.
cAssessment by the Pediatric Quality of Life Inventory Version 4 (PedsQL), which consists of self-/parent-report forms for children 5 to 7 or 8 to 12 years of age, and adolescents 13 to 18 years, and the World Health Organization Quality of Life-BREF 2004, a 26-item instrument for adults.
dThe 10 components analyzed were dissocial behavior, dysphoria, attention problems, elimination problems, autistic behavior, self-damaging behavior, self-regulating problems, tics, anxious behavior, and withdrawing behavior.