Genetics
What gene is mutated in Rett Syndrome?
What is MECP2?
What repetitive hand movement is common in Rett Syndrome?
What is hand-wringing?
What device can help people with Rett Syndrome communicate?
What is an AAC device (augmentative and alternative communication)?
Is there a cure for Rett Syndrome?
What is no?
Who does Rett Syndrome mostly affect?
What are girls?
Is Rett Syndrome usually inherited or a random mutation?
What is a random (spontaneous) mutation?
Around what age do symptoms begin to appear?
What is between 6 and 18 months?
What condition affects the spine of some patients?
What is scoliosis?
Name one therapy used to help patients.
What is physical therapy (or speech or occupational therapy)?
How rare is Rett Syndrome?
What is 1 in 10,000 to 15,000 girls?
Which chromosome is the MECP2 gene found on?
What is the X chromosome?
What major skill do children with Rett Syndrome often lose?
What is speech or communication?
Why might someone with Rett need feeding assistance?
What is difficulty with chewing and swallowing?
What kind of doctor would treat seizures in Rett Syndrome?
What is a neurologist?
What is the average life expectancy of someone with Rett Syndrome?
What is often into middle age or longer, depending on care?
What type of inheritance pattern does Rett Syndrome follow?
What is X-linked dominant?
What type of irregular breathing might occur in Rett Syndrome?
What is hyperventilating or breath-holding?
Why is therapy important for people with Rett Syndrome?
What is to maintain movement, reduce complications, and improve quality of life?
What type of new treatment is being studied to replace the faulty MECP2 gene?
What is gene therapy?
What is MECP2’s role in the body?
What is controlling gene expression in brain development?
Why do most boys with Rett Syndrome not survive?
What is because they only have one X chromosome and no backup copy of the MECP2 gene?
Name a neurological symptom that can occur besides movement problems.
What are seizures?
Do most people with Rett Syndrome live independently?
What is no, they usually require full-time care?
What kind of medication is often prescribed for Rett Syndrome?
What are anti-seizure medications?
What U.S. law protects students with Rett Syndrome in school?
What is IDEA (Individuals with Disabilities Education Act)?