Rett syndrome is a unique neurodevelopmenal disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Rett Syndrome is a debilitating, sometimes fatal, developmental disorder that gets its name from Andreas Rett, the Austrian doctor who first identified it in 1966. The National Institute of Neurological Disorders and Stroke says children afflicted with Rett Syndrome can have problems walking and speaking, may exhibit repetitive behaviors (usually involving their hands) and may also suffer from mental retardation. The condition presents itself in four stages, from "early onset," which could begin when children are as young as six months, to "late motor deterioration," which can render them nearly immobilized.
Rett Syndrome is most often misdiagnosed as Autism, Cerebral Palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took months to years of waiting to confirm the diagnosis as new symptoms appeared over time.
The course of Rett Syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of the hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.
Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.
Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.