Conceptual model of biological and environmental variables that influence developmental outcomes of children with IMD JIMD Reports

Objective: To explore the level of coping and management of parents of children with inherited metabolic disorders (IMD) and the relationship with children’s cognitive, behavioural and social functioning. Methods: Parents of children (n 1⁄4 22) with confirmed IMD (glutaric aciduria type I, methylmalonic aciduria, propionic aciduria, isovaleric aciduria, glycogen storage disease, maple syrup urine disease, ornithine transcarbamylase or very long-chain acyl-CoA dehydrogenase deficiency) completed standardised questionnaires regarding psychological distress, coping and family management. Children completed cognitive assessments and parents rated their behavioural and social functioning on standardised questionnaires. Scores were compared with normative data. Results: Most parents were coping well; 4/22 reported high levels of psychological distress. Exploratory analysis found that parent coping variables were correlated to the child’s internalising symptoms, whereas family management was related to children’s externalising behaviours and social skills. No relationship was found between parent variables and cognitive functioning. Conclusions: Parental coping and family management impact on the child’s internalising symptoms and externalising behaviours, respectively. Early identification of issues in these domains may enhance referral for therapeutic interventions and family support programmes. Inherited metabolic disorders (IMD) are individually rare but overall are diagnosed in 1:318–1:3670 live births, depending on the population (Hutchesson et al. 1998; Dionisi-Vici et al. 2002; Aygen et al. 2014). The implementation of newborn screening and initiation of earlier treatment have decreased morbidity and mortality rates (Waisbren et al. 2003; Wilcken et al. 2009), yet some children remain vulnerable to ongoing ‘metabolic crises’. Parents need to constantly manage and monitor their children since poor management can affect physical and cognitive development (Hood et al. 2014), and some children may experience poor outcomes despite early treatment (Gr€unert et al. 2013; Waisbren et al. 2013). Thus, parents are faced with multiple stressors throughout the diagnosis period and beyond. Parents may experience a range of emotions at the diagnostic stage, such as guilt, anger, grief, sadness and worry for the future (Weber et al. 2012). Long-term burden includes changes in lifestyle due to dietary constraints, medication regimes and frequent visits to the medical centre – all of which affect family routines, relationships and parenting styles (Cederbaum et al. 2001; Hatzmann et al. 2009). IMD can lead to financial burden as much as emotional burden (Gramer et al. 2013). Some parents also report a type of ‘social burden’ regarding what friends, family and society may think about them and their parenthood Communicated by: Verena Peters Competing interests: None declared A. Brown (*) : L. Crowe :V. Anderson Murdoch Childrens Research Institute, Australian Centre for Child Neuropsychological Studies, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, VIC 3052, Australia e-mail: amy.brown@mcri.edu. au A. Brown :A. Boneh :V. Anderson Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia L. Crowe :V. Anderson Department of Psychology, Royal Children’s Hospital, Melbourne, VIC, Australia A. Boneh Metabolic Research, Murdoch Childrens Research Institute, Royal Childrens Hospital, Melbourne, VIC, Australia JIMD Reports DOI 10.1007/8904_2016_544