Abstract
BackgroundIn recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. However, IT-IEM still require intense patient and caregiver effort in terms of strict dietetic and pharmacological treatment, and the threat of metabolic crises is always present. Furthermore, crises can affect the central nervous system (CNS), leading to cognitive, behavioural and psychiatric sequelae. Consequently, the well-being of the patients warrants consideration from both a medical and a psychosocial viewpoint by assessing health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning. To date, an overview of findings on these topics for IT-IEM is lacking. We therefore aimed to systematically review the research on HrQoL, psychological adjustment, and adaptive functioning in patients with IT-IEM.MethodsRelevant databases were searched with predefined keywords. Study selection was conducted in two steps based on predefined criteria. Two independent reviewers completed the selection and data extraction.ResultsEleven articles met the inclusion criteria. Studies were of varying methodological quality and used different assessment measures. Findings on HrQoL were inconsistent, with some showing lower and others showing higher or equal HrQoL for IT-IEM patients compared to norms. Findings on psychological adjustment and adaptive functioning were more consistent, showing mostly either no difference or worse adjustment of IT-IEM patients compared to norms. Single medical risk factors for HrQoL, psychological adjustment, or adaptive functioning have been addressed, while psychosocial risk factors have not been addressed.ConclusionData on HrQoL, psychological adjustment, and adaptive functioning for IT-IEM are sparse. Studies are inconsistent in their methodological approaches, assessment instruments and norm populations. A disease-specific standard assessment procedure for HrQoL is not available. Psychosocial risk factors for HrQoL, psychological adjustment, or adaptive functioning have not been investigated. Considering psychosocial variables and their corresponding risk factors for IT-IEM would allow evaluation of outcomes and treatments as well as the planning of effective social and psychological interventions to enhance the patients’ HrQoL.
Highlights
Intoxication-type inborn errors of metabolism (IT-IEM) are a group of inborn errors of metabolism (IEM) which share distinct clinical features
To augment the specificity of the search, the IEM/intoxication-type inborn errors of metabolism (IT-IEM) group and the health-related quality of life (HrQoL)/psychological adjustment/adaptive functioning group were connected to each other by the Boolean operator “AND”, whereas terms within the groups were connected by the Boolean operator “OR”
We took advantage of other options to refine the search when the databases offered them; search terms concerning IEM, HrQoL, psychological adjustment, and adaptive functioning were limited to titles and abstracts, and words with multiple possible endings or spellings were completed by wildcards
Summary
Intoxication-type inborn errors of metabolism (IT-IEM) are a group of inborn errors of metabolism (IEM) which share distinct clinical features. The group encompasses urea cycle disorders (UCD), organic acidurias (OA), tyrosinemia type 1 (TYR 1), and maple syrup urine disease (MSUD). Patients with IT-IEM share two main clinical features: they have to follow a strict diet, and they live with the permanent risk of metabolic crises. In cases of metabolic crises, patients immediately require intensified home care or hospitalisation Despite such efforts, crises remain life-threatening and may cause organ and central nervous system (CNS) damage [5]. Considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. We aimed to systematically review the research on HrQoL, psychological adjustment, and adaptive functioning in patients with IT-IEM
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