Rett Syndrome

Introduction
Rett syndrome is one of the types of pervasive developmental disorder (PDD). This progressive neurological disorder which appears to affect only girls is characterized by transient autistic behaviors, stereotype hands use, and progressive spasticity of the lower limbs, dementia, seizure, acquired Microcephaly and mental retardation.
Individual often appear to develop typically during the first year of life with latent and subtle Neurodevelopmental abnormality in infancy.
Generally after 1 year of age, they experience rapid deterioration of behaviors, language and mental ability, lose purposeful hand function and develop ataxia and seizure. A prominent feature of this condition is continuous hand washing movements often accompanied by hyperventilation. By 6 years of age an affected girl commonly has mental retardation requiring extensive support.

Clinical Stages of Rett Syndrome
Between 6 months to 18 months

  • Arrest of developmental progress
  • Deceleration of head growth
  • Diminishing play interest
  • Possible deterioration of eye contact
  • Possible deterioration of communication

Between 1 year to 4 years

  • Apraxic / Ataxic gait
  • Irregular breathing / hyperventilation
  • Loss of purposeful hand use
  • Seizures
  • Dementia with autistic features
  • Stereotype hand movement

Between 3 years to 8 years

  • less prominent autistic features
  • mental retardation
  • prominent gait apraxia and Truncal ataxia
  • Seizures
  • Variable motor dysfunction

Between 5 years to 15 years

  • decreased mobility
  • growth retardation cachexia
  • scoliosis, foot deformity
  • seizure less problematic
  • spasticity

Management / Treatment
Presently there is no cure available. Treatment is symptomatic. The management requires team approach. Treatment protocol require

  • Prevent of seizure with the help of pediatric neurologist
  • Management of gastrointestinal reflux, constipation and nutrition
  • Physiotherapy to prevent contracture  or deformity especially foot deformity and scoliosis
  • Occupational therapy to maintain and function and decrease the hand washing behaviours
  • Speech therapy to continue the residual communication ability
  • Orthopedic procedure in case of deformity correction
  • Behavioural modification through Psychologist and sometimes by Psychiatrist
  • Assistive technology to be independent in ADL.

 

Prognosis
Although the prognosis of the condition is not so good but the life expectancy is very high. In some cases the life expectancy has been reported beyond 60 years. With good supportive care and scientific management, individual with this condition can have some better prognosis.