Abstract

Abstract: Rett’s syndrome (RTT) is non-inherited genetic postnatal neurodevelopment disorder that occurs almost exclusively in girls. RTT is characterized by psychomotor developmental regression presenting with vast range of neuro-musculoskeletal impairments such as hypotonia, ataxia, apraxia, loss of transitional movements, spasticity, foot and spinal deformities, loss of hand function, autistic behviour, speech loss, severely handicapping the affected person. A case study of 7 year old RTT girl is presented here who was referred for physiotherapy. The girl had normal development till the age of 2 years and now exhibited gait difficulty, truncal ataxia, loss of hand dexterity with typical stereotype hand movements, bruxism and episodes of hyperventilation. Objective of this case study is to report impact of specific physiotherapy interventions and exercises on gross motor function in RTT. Prior to commencing physiotherapy child was assessed for gait difficulties, gross motor function, certain fine hand movements and transitional skills. Considerable improvement in walking, balance, gross motor function and transitional skills was observed following four months of comprehensive physiotherapy treatment that was specifically devised for child. Study suggests that physiotherapy is helpful in reducing impact of disease by maintaining or even regaining child physical abilities and hence preserving optimal level of function.

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