Abstract
This study aimed to determine whether there is a relationship between abnormal foot position and standing and walking ability in individuals with Rett syndrome (RTT), a rare neurological condition primarily affecting females, often accompanied by impaired gross motor function and musculoskeletal deformities. Through means of an online survey, physiotherapists were asked to share information about their work and experience with individuals with RTT. They were asked about their clients’ scores on the Rett Syndrome Gross Motor Scale and measures of their foot deformity, passive range of motion of dorsiflexion of the foot, use of supportive footwear, pressure load on the foot, and symmetry in weight bearing. 45 physiotherapists gave answers relating to 67 individuals with RTT who ranged in age from 2 to over 50 years. Almost 80% had an abnormal foot position which required support of special shoes or orthoses. Approximately 55% experienced abnormal pressure load on the foot and 65% demonstrated asymmetrical weight-bearing; 22% could sit independently and 17% were able to stand and walk independently. Of all the variables investigated, only abnormal distribution of pressure on the foot and asymmetry in weight bearing through the legs were found to be (negatively) correlated with standing and walking ability. Physiotherapists can use this information to give advice on othopedic support for the feet of individuals with RTT.
Highlights
Rett syndrome (RTT) is a rare neurological disorder resulting mainly from a de novo mutation in the gene encoding methyl-CpG-binding protein 2 (MECP2) on the Xchromosome
The gross motor skills of individuals with RTT are influenced by a range of neurological problems
As an indicator of general walking ability within the Rett population, data extracted from the large-scale Australian Rett Syndrome Database (Downs et al 2008) found that 30% of individuals were unable to walk compared with 43% who walked without support; the degree of support required was found to increase significantly with age (Downs et al 2015)
Summary
Rett syndrome (RTT) is a rare neurological disorder resulting mainly from a de novo mutation in the gene encoding methyl-CpG-binding protein 2 (MECP2) on the Xchromosome. It primarily affects females, with a prevalence of approximately 1 in 10,000 females (Leonard et al 1997; Bienvenu et al 2006; Laurvick et al 2006; Fehr et al 2011). When considered in the context of early developmental milestones, it appears that those individuals who learn to stand and walk independently in the first two years of life are more likely to maintain the ability over a long period of time (Lotan and Hanks 2006). It has been shown that, following intensive physiotherapy intervention, individuals can learn to walk independently after many years of being unable to walk (Jacobsen et al 2001; Larsson and Engerstrom 2001)
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