Development is typically normal until 6–18 months, when 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 stereotypies 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 due 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.
Signs of Rett syndrome that are similar to autism:
- screaming fits
- panic attack
- inconsolable crying
- avoidance of eye contact
- lack of social/emotional reciprocity
- general lack of interest
- markedly impaired use of nonverbal behaviors to regulate social interaction
- loss of speech
- Balance and coordination problems, including losing the ability to walk in many cases
- gastrointestinal problems
- sensory problems
Signs of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion could rarely be made):
- possible short stature, and/or might be unusually proportioned because of difficulty walking or malnutrition due to difficulty swallowing.
- hypotonia
- delayed or absent ability to walk
- gait/movement difficulties
- ataxia
- microcephaly in some - abnormally small head, poor head growth
- some forms of spasticity
- chorea - spasmodic movements of hand or facial muscles
- dystonia
- bruxism - grinding of teeth
Signs may stabilize for many decades, particularly for interaction and cognitive function such as making choices. Anti-social behavior may change to highly social behavior. Motor functions may slow as rigidity and dystonia appear. Seizures may be problematic, with a wide range of severity. Scoliosis occurs in most, and may require corrective surgery. Those who remain ambulatory tend to have less progression of scoliosis.
Further Reading
This article is licensed under the Creative Commons Attribution-ShareAlike License.
It uses material from the Wikipedia article on
"Rett syndrome"
All material adapted used from Wikipedia is available under the terms of the
Creative Commons Attribution-ShareAlike License.
Wikipedia® itself is a registered trademark of the Wikimedia Foundation, Inc.