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RETT'S SYNDROME

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Exact incidence is unknown, but it is estimated at 1 in 10,000

SIGNS AND SYMPTOMS


STAGE 1

It begins between 6 to 18 months of age.

  • Less eye contact
  • Loss of interest in toys
  • Hand wringing and decreasing head growth may occur
STAGE 2

It begins between ages 1 to 4 and last for few weeks to months.

  • a short neck
  • Loss of purposeful hand skills and spoken language
  • Characteristic hand movements such as wringing, tapping, clapping, repetitive taking of hand to mouth occurs
  • The child may hold the hands clasped behind the back or held at the sides, with random touching, grasping, and releasing
  • The movements continue while the child is awake but disappear during sleep
  • Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing usually improves during sleep
  • Some girls also display autistic-like symptoms such as loss of social interaction and communication. Walking may be unsteady and initiating motor movements can be difficult
  • Slowed head growth is usually noticed during this stage
STAGE 3

It usually begins between ages 2 and 10 and can last for years.

  • Apraxia, motor problems, and seizures are prominent during this stage
  • there may be improvement in behavior, with less irritability, crying, and autistic-like features
  • In stage III there may be more interest in the surroundings and alertness, attention span, and communication skills may improve
  • Many girls remain in this stage for most of their live
STAGE 4

It can last for years or decades .

  • Prominent features include reduced mobility, curvature of the spine, and muscle weakness, rigidity, spasticity, and increased muscle tone with abnormal posturing of an arm, leg
  • Girls who were previously able to walk may stop walking
  • Cognition, communication, or hand skills generally do not decline in stage IV
  • Repetitive hand movements may decrease and eye gaze usually improves

TREATMENT


  • Physical therapy
  • Neurodevelopmental therapy
  • Occupational therapy
  • Postural correction
  • Kinesio taping
  • Sensory integration therapy
  • Aids and appliances support (orthosis)
  • Pre-vocational training
  • Special education(remedial tutoring)
  • Parents counselling
  • Feeding training
  • Wheel chair training
  • PECS
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