Rett syndrome

Rett syndrome

• Non-inherited neurologic disorder• Onset :at about 1 year of life • Occur almost exclusively in girls and leads to

severe impairment• Affecting nearly every aspect of the child’s life• Speak. walk. eat. breath

• Neuromuscular impairment• Musculoskeletal impairment• Cardiopulmonary impairment• Social impairment

Neuromuscular impairment(A)

• Hypotonia in infant• Hypertonia and loss of acquired skill• Ataxia• Apraxia• Dystonia• Progression from hyperkinesia to bradykinesia

with age

Neuromuscular impairment(2)

• Slow reaction time• Stereotypic hand movement• Drooling• Involuntay ,rhythmic tongue movement and

deviation• Seizure disorder

Musculoskeletal impairment

• Scoliosis• Kyphosis• Joint contracture• Hip subluxation or dislocation• Equinovarus deformity

Cardiopulmonary impairment

• Immature respiratory pattern• Breathing irregularity(hyperventilation or

apnea)

Social impairment

• Loss of communication skill• Social withdrawal

Rehabilitation

• Services for each individual with rett syndrome can differ greatly

Rehabilitation goal

• Improved motor skill• Improved daily living skill• Improved functional ability • Improved communication skill• Improved swallowing

Rehabilitation

• Physical therapy • Occupational therapy • Speech therapy

Physical therapy

• Joint contracture prevention(positioning.ROM exercise. splinting)

• Increased endurance• Improved trunk balance control• Correct trunk posture

Occupational therapy

• Self care skill education• Hand splint(ex :large handles utensil)• Assistive device(ex :seating. Positioning .bath

bench . toilet chair .customized chair )

Speech therapy

• Often do not develop or lose the ability to communicate through speech

• Only 20% patients have the use of words ,and most of these words are used out of context and without meaning

Speech therapy

• Augmentative and alternative communication(communication methods used in place of speech)

• AAC may be written language ,body language and facial expressions

• Swallowing training

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