Updated: 6/16/2021

Rett Syndrome

0%
Topic
Review Topic
0
0
0%
0%
Flashcards
3
N/A
N/A
Questions
1
0
0
0%
0%
Evidence
1
0
0
Topic
Images
https://upload.orthobullets.com/topic/4107/images/rett.jpg
https://upload.orthobullets.com/topic/4107/images/rett_xray.jpg
  • Summary
    • Rett Syndrome is a congenital condition caused by an X-linked dominant mutation in the MECP2 gene that affects girls between 6-18 months of age. Patients present with progressive impairment, developmental delays, and spinal abnormalities. 
    • Diagnosis is made primarily based on patient development history and clinical observations.
    • Treatment involves a multidisciplinary approach to address developmental delay, cognitive abnormalities, and orthopedic manifestations. 
  • Epidemiology
    • Incidence
      • 1 in 10,000 births
    • Demographics
      • male fetuses (only 1 X chromosome) do not survive to term
      • female fetuses (1 mutated gene, 1 normal gene) survive and manifest disease
  • Etiology
    • Pathophysiology
      • affects the grey matter of the brain
    • Genetics
      • inheritance pattern
        • X-linked dominant pattern
      • mutation
        • MECP2 gene mutation
          • this gene encodes the methyl-CpG-binding protein-2, which methylates DNA
        • 95% de novo mutation
        • mutation is on male copy of X chromosome
    • Associated conditions
      • medical conditions
        • development delay
        • seizures
          • 80% of cases
        • behavioral abnormalities
          • screaming and crying
          • loss of speech
        • gastrointestinal
          • constipation
      • orthopaedic
        • spasticity and joint contractures
        • ataxia
        • hypotonia
        • bruxism (grinding of teeth)
        • chorea (abnormal hand movement)
        • scoliosis with C-shaped curve
          • develops at the age of 10
          • occurs in more than 50% of patients
          • does not respond to bracing
          • instrumentation must include entire scoliotic and kyphotic curve
  • Presentation
    • Symptoms
      • normal development for first 6-18 months of life
      • when symptoms present, they range widely from mild to severe including
        • apraxia
          • loss of purposeful movements in the hands
          • often the first sign of the disease
        • mental slowing (i.e. signs of dementia)
        • abnormal breathing
        • difficulty ambulating
        • seizures
    • Physical exam
      • apraxia
      • abnormal gait
      • scoliosis
      • decreased head circumference
        • usually starts to become evident at 5-6 months
      • poor circulation indicated by cold, blue extremities
  • Imaging
    • Radiographs
      • recommended views
        • AP pelvis
          • findings
            • coxa vara
        • scoliosis films
          • findings
            • C-shaped curve
  • Studies
    • Diagnosis is based primarily on patient development history and clinical observations
    • Genetic testing
      • may identify genetic mutation responsible for disease, though not in all cases
  • Treatment
    • Nonoperative
      • symptom management
        • there is no specific treatment for Rett's syndrome
        • assistance with feeding and hygeine
        • treat seizures
      • physical therapy
        • indicated to avoid hand contracture
    • Operative
      • posterior spinal fusion
        • indications
          • thoracic curve that interferes with sitting and balance
          • C-shaped curve does not respond to bracing
        • technique
          • instrumentation must include entire scoliotic and kyphotic curve
  • Prognosis
    • Half of children unable to walk after the age of ten due to deterioration of motor function
      • development is normal until 6 to 18 months then progressive impairment and development delays occur
      • regression is rapid until the age of three
      • a more stable phase of progression occurs until age of 10

Please rate this review topic.

You have never rated this topic.

Thank you. You can rate this topic again in 12 months.

Flashcards (3)
Cards
1 of 3
Questions (1)
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK
Evidence (1)
EXPERT COMMENTS (2)
Private Note