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Rett syndrome

Rett syndrome

This syndrome is an infrequent hereditary neurological and developmental disorder. In this disease brain is affected in such a way that causes progressive loss of motor skill and speech. Usually girls are more affected by this disease. Babies with rett syndrome grow normally for the first 6-18 months of age and then loses the skills which they previously had.

Symptoms

symptoms of rett syndrome are more pronounced at the age of 12 to 18 months. Signs and symptoms include:

  • Slow growth like microcephaly
  • Loss of normal movement and coordination
  • Communication abilities become lost
  • Repetitive, purposeless hand movements that may differ for each person.
  • Intense staring, blinking, crossed eyes or closing one eye at a time.
  • Breath-holding, abnormally rapid breathing (hyperventilation), forceful exhalation of air or saliva, and swallowing air
  • Seizures
  • Abnormal curvature of the spine
  • Loss of intellectual functioning
  • Sleep disturbance, irritability and crying

Stages of Rett syndrome:  There are 4 stages of presentation of rett syndrome:

  • Stage  I=   Early onset.
  • Stage II=   Rapid deterioration
  • Stage III=  Plateau
  • Stage IV=  Late motor deterioration
Causes

Rett syndrome is a rare hereditary disorder which result’ s from variety of genetic mutations. Genetic mutation occur randomly but usually MECP2 gene is involved. This mutation results in problematic protein production that is crucial for brain development. However, exact cause of this syndrome is still unknown.

Complications

Rett syndrome can lead to following complications:

  • Disturbance in sleeping
  • Retarded growth
  • Bowel and bladder problems
  • Anxiety and depression
  • Life span become shortened
Diagnosis

Diagnosis depends upon detailed medical history and complete general physical examination of the patient. Other genetic conditions that can have same presentation in the child should be rule out like: autism, cerebral palsy, hearing and vision problems, brain disorders, brain damage prenataly. Along with this other tests include:

  • Blood tests
  • Urine tests
  • Magnetic resonance imaging (MRI) or computerized tomography (CT) scans and other imaging tests
  • Hearing tests
  • Eye and vision exams
  • Electroencephalograms (EEGs)
Treatment

There’s no proper cure to eliminate the disease but certain treatments are given to support the health of the child. Treatment options include:

  • Regular medical check up
  • Medications for seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal tract or the heart.
  • Occupational therapy
  • Speech therapy
  • Nutritional support
  • Behavioural intervention
  • Music therapy and hydrotherapy are also sometimes beneficial
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