Rett syndrome, originally termed as cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients.
The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of individuals affected do not walk. Scoliosis, growth failure, and constipation are very common and can be problematic.
The signs of this disorder are most easily confused with those of Angelman Syndrome, Cerebral Palsy and Autism. Rett syndrome occurs in approximately 1:10,000 live female births in all geographies, and across all races and ethnicities.
Initial development is normal. Onset occurs between 6 and 18 months of age. During this time there are subtle developmental deviations and early indicators of Rett syndrome. A period of developmental stagnation is followed by developmental regression where language and motor milestones regress, purposeful hand use is lost, and acquired deceleration in the rate of head growth (resulting in microcephaly in some) is seen. Hand stereotypes are typical, and breathing irregularities such as hyperventilation, breathholding, or sighing are seen in many. Early on, autistic-like behavior may be seen.
The infant with Rett syndrome often avoids detection until 6–18 months, owing to a relatively normal appearance and some developmental progress. However, closer scrutiny reveals disturbance of the normal spontaneous limb and body movements that are thought to be regulated in the brainstem. The brief period of developmental progress is followed by stagnation and regression of previously acquired skills. During regression, some features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for Autism.
For more information, visit http://www.rettsyndrome.org
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