Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review.

Marta Fonzo,Bruno Corrado,Felice Sirico

doi:10.3390/brainsci10070410

Abstract

Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A total of 17319 studies were found in the main scientific databases. Applying the inclusion/exclusion criteria, 22 studies were admitted to the final phase of the review. Level of evidence of the included studies was assessed using the Oxford Centre for Evidence-Based Medicine—Levels of Evidence guide. Nine approaches to physical therapy for patients with Rett syndrome were identified: applied behavior analysis, conductive education, environmental enrichment, traditional physiotherapy with or without aids, hydrotherapy, treadmill, music therapy, computerized systems, and sensory-based treatment. It has been reported that patients had clinically benefited from the analysed approaches despite the fact that they did not have strong research evidence. According to the results, a multimodal individualized physical therapy program should be regularly recommended to patients with Rett syndrome in order to preserve autonomy and to improve quality of life. However, more high-quality studies are needed to confirm these findings.

Highlights

Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder which mostly affects females; its prevalence is estimated between 1:10000 and 1:15000 [1]
RTT is considered as a part of a spectrum of disease related to mutation of the methyl CpG binding protein 2 (MECP2) gene, which is located on the long arm (q) of the X chromosome (Xq28)
A total of 17,319 potentially relevant records emerged from the keywords searching in PubMed (n = 319), Cochrane Library (n = 0), PeDro (n = 0), and Google Scholar (n = 17000) databases. 16400 records were immediately removed as they were letters, comments, editorials, conference proceedings, and practice guidelines

Summary

Introduction

Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder which mostly affects females; its prevalence is estimated between 1:10000 and 1:15000 [1]. RTT is considered as a part of a spectrum of disease related to mutation of the methyl CpG binding protein 2 (MECP2) gene, which is located on the long arm (q) of the X chromosome (Xq28). Between 12 months and 4 years after birth, children develop autistic-like behaviors (i.e., lack of interest in social interaction and language regression), problems in general dynamic coordination (ataxia), and stereotypic hand movements, the last of which are considered a hallmark of the disease. During this time period, patients often develop breathing irregularities, such as temporary stopping of breathing (apnea) or hyperventilation syndrome, irregular

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