This spectrum disorder is unique, as it affects girls almost exclusively. Until recently, it was thought that a male fetus could not survive the disorder, and therefore all Rett Syndrome children were female. Research now shows that although Rett Syndrome is rare in boys, it should not be excluded as a diagnosis just because of gender.
A gene mutation causes Rett Syndrome, and the degree of the mutation determines the severity of the condition. If a boy has Rett Syndrome, he will display the symptoms differently from a girl with classic Rett Syndrome, and therefore DNA testing is required to determine this disorder in boys. Rett Syndrome is a rare condition, affecting only 1 in 100,000 children.
The diagnosis of Rett Syndrome is made by the observation of symptoms similar to autism. However, the differences between the two conditions become more apparent as the child ages, due to the dramatic regression exhibited in Rett Syndrome. Indicators of Rett Syndrome include:
Frequent hand wringing, which is unique to this disorder
The major milestones achieved as an infant
Loss of skills and abilities beginning at age two with increase in hand-wringing
Loss of the ability to walk
Profound developmental delay
Social skills decreasing with age
Girls with Rett Syndrome are often misdiagnosed as being autistic when they are very young because of the similarities in symptoms. It is between the ages of five and ten that the differences become apparent. The distinctive hand wringing that is characteristic of the disorder begins to interfere with normal motor functioning, making it difficult to perform simple tasks necessary in the activities of daily living. The child may have difficulty feeding herself, dressing, playing, or engaging in activities typical for any young child.
There are gender differences in autism spectrum disorders. Seventy-five percent of children with autism and PDD-NOS are boys. There are ten boys for every girl diagnosed with Asperger's Syndrome. Fragile X and childhood disintegrative disorder are also more prevalent in boys. Girls have Rett Syndrome almost exclusively.
Girls diagnosed with Rett Syndrome, or those with Rett Syndrome but improperly diagnosed as being autistic, will benefit from the same therapies used for other spectrum disorders. Because it is sometimes difficult to get a diagnosis of Rett Syndrome until the child is older, parents should proceed with therapies for children with autism.
If the diagnosis of Rett Syndrome is confirmed, parents need to prepare for the physical and mental limitations that will occur as the child matures. Working with your child's strengths and abilities at a young age will ease the issues associated with this syndrome later in life.