OBJECTIVES : Rett Syndrome, a rare non-inherited genetic disorder caused by a mutation in the MECP2 gene on the X chromosome, affects approximately 1 in 9,000 girls under the age of 12. Symptoms start at 6 to 18 months and lead to developmental impairment and premature death. This review aimed to identify and assess the economic burden of care imposed on patients with Rett Syndrome and their families.

METHODS : A systematic literature review was performed in Medline, Embase, Cochrane Library via Wiley Online Library (HTA database) and Database of Abstracts of Reviews of Effects (DARE) on 25th June 2018. A total of 133 articles were identified out of which 9 articles (4 studies) were included in the qualitative synthesis. Data on type and costs of interventions were extracted.

RESULTS : Four publications on resource-use and costs were identified. Mackay 2018 focused on repiratory morbidity in Rett syndrome: enteral feeding and assisted walking increased the risk of respiratory-related hospital admissions and the mean cumulative length of respiratory-related hospital stay was the lowest in patients <7 years and the highest in those >20 years (0.37 vs. 1.09 days per person/year). Hammett 2014 and Labianca 2013 reported length of stay after surgical correcting of scoliosis : the mean recovery-stay were 18.2 days (mean 6-42 days) and 12.3 days (2–61 days) respectively; patients without complications were discharged on average of 8.7 days postoperatively, whereas those with complications remained as inpatients for an average of 21.8 days. Urion 2016 concluded that care integration improves outcomes and reduce costs.

CONCLUSIONS : The literature lacks reports on data on costs of management of patients with Rett Syndrome. Further research is needed on the evaluation of medical interventions for patients with Rett Syndrome and their impact on a reduction of costs or an increase in utility.