Definition:
Hand writing Rett syndrome, or more commonly known as Rett syndrome, is a childhood neurodevelopmental disorder.
Diagnosis:
Doctors will typically observe the symptoms during the child's growth, as well as conduct evaluations of the child's neurological and physical activity.
A recently developed genetic test is able to confirm the clinical diagnosis of those with suspected Rett syndrome.
Treatment:
There is no cure for Rett syndrome, although therapy for disease management may make living with symptoms more bearable for the patient and family. This includes parental counseling, management of gastrointestinal and nutritional issues, modifying social medications, increasing the child's communication skills, surveillance of scoliosis and long QT syndrome, anti-psychotics for patients who tend to harm themselves, sleep aids, beta-blockers, and SSRIs.
Symptoms and Signs:
Symptoms of Rett syndrome include microcephaly, small feet and hands, repetitive hand movements such as wringing or mouthing, cognitive impairment, problems with socialization, loss of purposeful use of hands, slowed brain and head growth, seizures, gait abnormalities, and mental retardation.
The severity of symptoms and age of onset will vary from child to child.
Causes:
Sporadic mutations in the MECP2 gene on the X chromosome are responsible for causing the Rett syndrome. Almost all affected are girls, as male fetuses with the disorder usually die before birth.
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