Rett Syndrome

Rett syndrome is a neurodevelopmental disorder that affects the use of hands, slow brain and head growth, and ineffective walking movement. This syndrome mainly affects girls at a young age and symptoms can take place quickly. The behaviors of children with the syndrome are similar to autism in early stages. The cause of Rett syndrome is mutation of a protein and is passed down through genes although it is sporadic in the effect of the syndrome. The syndrome happens in one in every 10,000 to 15,000 female cases. There is no cure for Rett syndrome but there are different methods to deal with the symptoms.  The syndrome does not alter or cause loss speech communication.

Cause: Rett syndrome is caused by genetic mutation but it is not specifically inherited. This means it can passed down at random. Rett syndrome can effect males severely sometimes killing them at child birth or early adolescence.

Forms: There are different forms of Rett syndrome including Congenital variant, Zappella variant, and Hanefeld variant. Congenital happens before birth causing severe effects for males.

Symptoms: Symptoms of Rett syndrome include: slowed growth, loss of movement, loss of communication skills, loss of thinking skills, abnormal hand/eye movements, and abnormal body behaviors. There are 4 different stages of Rett syndrome spanning over 50 years. Many times Rett syndrome symptoms begin showing at an early age and last throughout life.

Treatment: Rett syndrome has no cure but there are medical treatments that can treat Rett syndrome symptoms. These are usually drugs that counter seizures and relax muscles. Physical and speech therapy are an important process in dealing with Rett syndrome. Casts and splints can help with body movements and nonverbal communication skills can support adolescent struggles in speaking. Consistent and healthy nutrition at an adolescent age is a crucial way to support the health and wellness of someone with Rett syndrome.

Helpful Links:

Rett Syndrome Fact Sheet

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