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Rett syndrome
What are the symptoms?
The baby with classic (easily recognised) Rett syndrome is usually placid and rather inactive. Learning may be slow but progress may reach the nine or twelve month stage, occasionally beyond. Within a few weeks of birth the child's head size may fail to increase at the normal rate indicating failure of the brain to grow normally, although head size may remain within normal limits. Strange finger movements develop with the hands twisting and squeezing rather than reaching out to explore. Usually between one to three years the abnormal hand movements become more obvious and purposeful use is reduced or lost. During this time of regression the child may be agitated and distressed and breathing rhythm becomes irregular.
Brain scans may confirm poor growth of the brain and after some months the electroencephalogram may show abnormal electrical activity in the brain cells (an electroencephalogram is the tracing which shows the electrical activity due to the neurones on the surface of the brain). There is disturbance of several substances involved in brain development and mature function.
Later problems include poorly regulated muscle tension (reduced initially and increased later), with a tendency to develop joint contractures and curvature of the spine (scoliosis); involuntary movements including the hand stereotypies and abnormal movements of the limbs and face; feeding difficulties; periodic agitation and severe intellectual disability. Breathing rhythm is disturbed, an indication of poor brain control of heart and respiratory activity. This often leads to short non-epileptic vacant spells. There may also be epilepsy. Facial appearance is attractive with liking for human contact, good vision and hearing.
The disorder itself does not appear progressive. However there are serious health risks due to the tendency for muscle tone to increase, leading to worsening scoliosis and other joint contractures and increasing difficulty in feeding, leading to poor nutrition. The poor cardio-respiratory control probably contributes to some sudden deaths, although the estimated overall death rate is less than for many other profoundly disabling conditions (one point two per cent of UK recorded cases each year). In less severe cases, healthy survival into adult life with good retention of the early skills is well documented.
Background
| How is it diagnosed? 
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