Rett Syndrome Flashcards
What is the genetic cause of Rett Syndrome and why is it predominantly seen in females?
Rett Syndrome is caused by mutations in the MECP2 gene on the X chromosome. It is X-linked dominant and predominantly affects females, as males with the mutation (embryonically lethal in males) usually do not survive.
This is an epigenetic mutation where the methylated CpG dinucleotides leads to the removal of acetyl groups (HDACs) all working to silence the targeted gene.
Is Rett Syndrome commonly associated with a family history of the disease?
No.
Rett Syndrome is typically not associated with a family history of the disease. Most cases arise from de novo mutations in the MECP2 gene on the X chromosome, which occur spontaneously and are sporadic, not inherited from the parents.
Rarely, familial cases may occur, but these are exceptionally uncommon.
What are the early developmental milestones in children with Rett Syndrome?
Children with Rett Syndrome appear normal until about six to eighteen months of age, meeting early developmental milestones.
What are the key features of regression in Rett Syndrome between six and eighteen months of age?
Key features include loss of purposeful hand movements with stereotypical hand-wringing motions, loss of speech, and progressive motor skill regression.
Other neurological issues include: ataxia, seizures, and scoliosis.
What neurological and physical features are associated with Rett Syndrome?
Features include microcephaly due to deceleration of brain growth, seizures, gait instability, breathing abnormalities, sleep disturbances, and autistic behaviors.
How is Rett Syndrome diagnosed?
Rett Syndrome is diagnosed clinically, supported by genetic testing to confirm MECP2 mutations.
What is the management approach for Rett Syndrome?
Management is multidisciplinary, involving physical therapy, occupational therapy, speech therapy, and seizure management. Supportive care addresses breathing abnormalities and mobility issues.
What factors contribute to the decreased life expectancy in Rett Syndrome?
Decreased life expectancy is due to complications such as reduced mobility, seizures, and breathing abnormalities, with most individuals living to middle age.
