Genetic Syndromes: Lesch Nyhan and Prader Willi
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Questions and Answers

Which syndrome is known for having a 'Greek Warrior Helmet' appearance?

  • Patau's Syndrome
  • Edwards Syndrome
  • Down's Syndrome
  • Wolf-Hirschhorn syndrome (correct)

    • Which syndrome presents with delayed motor development and increased joint laxity at the atlantoaxial joint?

  • Down's Syndrome (correct)
  • Williams Syndrome
  • Rett Syndrome
  • Patau's Syndrome

    • Which syndrome can be diagnosed based on features like respiratory complications, short palpebral fissures, and visual acuity abnormalities?

  • Wolf-Hirschhorn syndrome
  • Rett Syndrome (correct)
  • Down's Syndrome
  • Williams Syndrome

    • Which syndrome is associated with ventricular septal defects and atrial septal defects?

    <p>Edwards Syndrome</p> Signup and view all the answers

    Which syndrome is NOT associated with congenital heart defects such as atrioventricular septal defect (AVSD) or tetralogy of Fallot?

    <p>Williams Syndrome</p> Signup and view all the answers

    Which syndrome can present with blepharitis, keratoconus, cataract, and other eye-related anomalies?

    <p>Down's Syndrome</p> Signup and view all the answers

    Which of the following is considered an exclusion criterion for typical Rett Syndrome?

    <p>Grossly abnormal psychomotor development in the first 6 months of life</p> Signup and view all the answers

    What is a common supportive criterion for atypical Rett Syndrome?

    <p>Breathing disturbances when awake</p> Signup and view all the answers

    Which criterion is required for a diagnosis of typical or classic Rett Syndrome?

    <p>A period of regression followed by recovery or stabilization</p> Signup and view all the answers

    What distinguishes the diagnosis of atypical or variant Rett Syndrome?

    <p>A period of regression followed by recovery or stabilization</p> Signup and view all the answers

    Which of the following is a main criterion for Rett Syndrome?

    <p>Hand wringing/ squeezing automatisms</p> Signup and view all the answers

    What characteristics are indicative of developmental delays in children requiring physical therapy?

    <p>Gait abnormalities: impaired (dyspraxia) or absence of ability (apraxia)</p> Signup and view all the answers

    Which of the following is a characteristic feature of Lesch-Nyhan syndrome?

    <p>Persistent self-injurious behavior such as biting fingers, hands, lips, and cheeks</p> Signup and view all the answers

    Which of the following is a characteristic feature of Prader-Willi syndrome?

    <p>Severe infantile hypotonia with poor suck and failure to thrive, followed by early-childhood onset obesity and hyperphagia</p> Signup and view all the answers

    Which of the following is a characteristic feature of Rett syndrome?

    <p>Mutation of the MECP2 gene leading to regression of previously acquired skills after a period of typical development</p> Signup and view all the answers

    Which stage of Rett syndrome is characterized by rapid and specific regression of acquired abilities?

    <p>The Rapid Developmental Regression Period (Stage II)</p> Signup and view all the answers

    Which of the following is a role of a physical therapist in managing developmental delays?

    <p>Providing sensory integration therapy to improve sensory processing and motor skills</p> Signup and view all the answers

    Which stage of Rett syndrome is characterized by the cessation of walking and the need for a wheelchair?

    <p>Late Motor Deterioration (Stage IV)</p> Signup and view all the answers

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