Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

Updated: Oct 21 2020

Fragile X Syndrome

  • Snapshot
    • A 3-year-old boy is brought to a pediatrician. His past medical history is unknown, as this is his first visit to the pediatrician. His mother reports that the family prefers an isolated existence and therefore has not sought medical help. However, she reports being concerned about his learning abilities, as his speech appears delayed compared to his sisters. On physical exam, the boy has a prominently long face, large jaw, and large ears. The pediatrician recommends a genetic test.
  • Introduction
    • Overview
      • fragile X syndrome is an X-linked dominant disorder characterized by macroorchidism, characteristic facial features, intellectual disability, and miral valve prolapse, caused by trinucleotide repeat (CGG) on the FMR1 gene
    • Epidemiology
      • incidence
        • the most common cause of inherited intellectual disability
      • demographics
        • females have less impairment and less physical features typical of fragile X syndrome
      • risk factors
        • family history
    • Genetics
      • inheritance pattern
        • X-linked dominant inheritance with variable penetrance
      • mutations
        • gene
          • trinucleotide repeat in FMR1 gene resulting in decreased expression
            • CGG repeats
    • Associated conditions
      • medical conditions and comorbidities
        • mitral valve prolapse
        • gastroesophageal reflux disease
    • Prognosis
      • life span is normal
  • Presentation
    • Symptoms
      • common symptoms
        • symptoms and behavioral problems may develop at birth of afterwards
        • characterized by developmental, cognitive, and neuropsychiatric issues
      • developmental
        • developmental delay in motor, speech, and language skills
      • cognitive
        • low IQ
      • neuropsychiatric
        • autism-like behaviors
          • hand flapping
          • avoidance of eye contact
        • anxiety
        • behavioral issues
          • aggression
          • attention deficits
          • oppositional
          • tantrums
      • seizure disorders
    • Physical exam
      • inspection
        • facial features
          • long face
          • large jaw
          • large everted ears
        • pectus excavatum
        • scoliosis
        • protruding chin
        • post-pubertal macroorchidism
        • hyperextensible joints
        • heart murmur or click
          • mitral valve prolapse
  • Imaging
    • Radiograph
      • indications
        • evaluate for scoliosis
      • findings
        • scoliosis
    • Echocardiograph
      • indications
        • evaluate for mitral valve prolapse
      • findings
        • mitral valve prolapse
  • Studies
    • DNA testing is diagnostic
      • Southern blot test
      • polymerase chain reaction
  • Differential
    • Autism spectrum disorder (ASD)
      • key distinguishing factor
        • similar behaviors such as hand flapping and avoidance of eye contact
        • patients with ASD lacks physical features typical of fragile X syndrome
  • Treatment
    • Treatment is aimed at symptomatic management
    • Lifestyle
      • specialist therapists
        • indications
          • speech and language therapy
          • occupational therapy
          • physical therapy
          • behavioral therapy
    • Medical
      • proton pump inhibitors
        • indications
          • gastroesophageal reflux disease
  • Complications
    • Recurrent infections
    • Seizure disorders
1 of 0
1 of 1
Private Note

Attach Treatment Poll
Treatment poll is required to gain more useful feedback from members.
Please enter Question Text
Please enter at least 2 unique options
Please enter at least 2 unique options
Please enter at least 2 unique options