A nervous system disorder, Rett syndrome can reverse development of hand use and expressive language. It typically affects girls and can be misdiagnosed as either cerebral palsy or autism. It strikes one in every 10,000 children.
Types
There are different types of Rett Syndrome. There is the atypical, provisional, and classical.
Atypical – the child is a boy, has mild speech and hand problems, and either begins soon after birth or as late as three and four years of age.
Provisional – the child has some of the symptoms between the ages of one and three.
Classical – the child meets the standard diagnostic criteria for Rett syndrome.
Symptoms of Rett Syndrome
In the first 18 months of life there may be normal development in a Rett syndrome child. Signs of the condition include seizures, shaky or stiff gait, scoliosis, breathing problems, developmental changes, drooling or excess saliva, apraxia, and floppy arms and legs. More signs include poor circulation, severe constipation and GERD, social engagement loss, normal sleep pattern disruption, slow head growth, loss of purposeful hand movements, and learning difficulties.
Diagnosis
There can be genetic testing to isolate a gene defect that is associated with Rett syndrome. The gene defect is not present in all cases though. Medical history and looking over the symptoms is the main way to diagnose the condition.
Treatment of Rett Syndrome
Treatment of the symptoms is one method of battling the condition. Therapy can help with contracting hands, there can be assistance with feeding and diapering, exercises for those with scoliosis, and constipation and GERD treatment. There can be feeding tubes inserted for children that aspirate food. Adding weight can improve alertness. Seizure medications and other medications may be administered. Lastly, stem cell therapy may help.
Source: A.D.A.M.