Abstract
Background: A scoliosis prevalence of 94% was reported in the population with Rett syndrome (RTT), with an annual progression rate of 14 to 21° Cobb which may result in pain, loss of sitting balance, deterioration of motor skills, and lung disfunction. This paper describes the efficacy of an intensive conservative individualized physical and postural activity program in preventing scoliosis curvature progression in patients with RTT. Methods: Twenty subjects diagnosed with RTT and scoliosis were recruited, and an individualized intensive daily physical activity program was developed for each participant. Each program was conducted for six months by participants’ primary caregivers in their daily living environment. Fortnightly remote supervision of the program implementation was provided by an expert therapist. Pre- and post-intervention radiographs and motor functioning were analyzed. Results: An averaged progression of +1.7° ± 8.7° Cobb, over one year (12.3 ± 3.5 months) was observed in our group, together with motor function improvements. A relation between curve progression and motor skill improvement was observed. Conclusions: The intervention prevented scoliosis progression in our group. The achievement of functional motor improvements could enable better body segment control and muscle balancing, with a protective effect on scoliosis progression. The intervention was effective for individuals with RTT across various ages and severity levels. Individual characteristics of each participant and the details of their activity program are described.
Highlights
Rett syndrome (RTT) is a severe neurodevelopmental disease caused by a mutation in the MECP2 gene located on the X chromosome [1], affecting about 1/10,000 females worldwide [2–4]
Participants’ individual data are available as Supplementary Material
This paper presented the effect of a six-month remotely supervised individualized motor and postural activity program carried out by parents, therapists, and primary caregivers with their daughters and clients with RTT
Summary
Rett syndrome (RTT) is a severe neurodevelopmental disease caused by a mutation in the MECP2 gene located on the X chromosome [1], affecting about 1/10,000 females worldwide [2–4]. Only one anti-scoliotic physical therapy intervention explicitly directed to patients with RTT was noted in the literature [35] This is a specific physical therapy regimen comprised of an intensive program of postural positioning and enhanced activity level carried out in joint cooperation with the participant’s family members and caregivers (within the educational facility). The intervention was conducted with a 5year-old girl with RTT whose Cobb’s angle reduced from 30 to 20◦ over an 18-month treatment period, through the use of positioning equipment, postural strategies (activating automatic equilibrium reactions, which oppose the natural scoliotic curve), and a motor activity program (walking or standing) during waking hours. The proposed intervention was developed based on the one proposed by Lotan and colleagues [35]
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