Rett’s syndrome is a rare developmental disorder of females which bears more resemblance to a neurodegenerative disorder than a psychiatric condition. Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls, more rarely in boys, and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained.
SYMPTOMS MAY INCLUDE:
- Loss of speech
- Loss of purposeful use of hands
- Involuntary hand movements such as handwashing
- Loss of mobility or gait disturbances
- Loss of muscle tone
- Seizures or Rett “episodes”
- Breathing issues
- Sleep disturbances
- Slowed rate of growth for head, feet and hands
However, children with Rett’s show many of the characteristic features of autism so it remains within the PDD classification.
Rett’s is thought to be caused by mutations in the MECP-2 gene on the X-chromosome, which may occur either sporadically (95 per cent) or via phenotypically normal mothers who have a germline mutation.
The exact genetics of inheritance and the reason for males not being affected are unknown, but it is likely that male fetuses with the mutation do not survive to term.
Girls with Rett’s syndrome generally develop normally until 6 to 18 months, at which time they start to regress developmentally.
They lose speech, purposeful hand movements, motor skills, and head growth. Stereotypies start to develop, especially hand washing, bruxism, and flapping. Breathing problems—hyperventilation, breath holding, and sighing—are common, and help to distinguish Rett’s from autism.
Mental retardation is invariably present by midchildhood.
Physical health problems are abundant, including epilepsy (80 per cent), constipation, poor growth, scoliosis, and cardiac and motor problems.
The average life expectancy of females with Rett’s syndrome is 30 years.
Constitutional treatment is required for it, few medicines are as saidAmbra grisea
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