Rett syndrome is a disorder of the nervous system occurring almost exclusively in girls. It leads to developmental reversals, especially in the areas of expressive language, and hand use, making it easily misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.
While Retts syndrome can occur in males, it attacks their only X chromosome, resulting in miscarriage, stillbirth, or very early death.
Although the a child will develop normally for the first 6-18 month, symptoms ranging from mild to severe will slowly start to develop. Symptoms may include apraxia, breathing problems, developmental changes, excessive saliva or drooling, floppy arms and legs, intellectual and learning disabilities, scoliosis, shaky or unsteady gait, toe walking, seizures, slow head and hand growth, change in sleep patterns, loss of purposeful hand movements, loss of social engagement, loss of speech, ongoing and sever constipation or gastro esophageal reflux, and poor circulation.
Treatment is varied depending on symptoms and includes assistance with feeding and diapering, methods to treat constipation and GERD, physical therapy, weight bearing exercises, supplemental feedings, diets high in calories and fat, as well various medications and supplements.
Although the disease will slowly progress until the patient is a teenager, then the symptoms may improve. Generally, individuals with Rett Syndrome will need assistance all their lives, and most will live until adulthood.
Rett Syndrome was first discovered in 1954 when Dr. Andreas Rett, a pediatrician in Vienna, Austria noticed two girls (unrelated to each other) in his waiting room making the same motions with their hands. After a comparison of their developmental and clinical histories, he noted they were quite similar. He found six other girls with the symptoms in his practice, traveled Europe looking for more subjects to study, and published his findings in several German medical journals in 1966. Even so, it wasn’t until 1983 that an article on Retts Syndrome was published in a mainstream English journal, Annals of Neurology.
It is of note that while the condition affects 1 of every 10,000 children, groups of the disease have appeared within families and certain geographic regions including Norway, Sweden, and northern Italy.