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 (B)</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 (B)</p> Signup and view all the answers

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

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

What is a common supportive criterion for atypical Rett Syndrome?

<p>Breathing disturbances when awake (C)</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 (B)</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 (D)</p> Signup and view all the answers

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

<p>Hand wringing/ squeezing automatisms (D)</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) (B)</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 (D)</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 (D)</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 (D)</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) (C)</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 (C)</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) (D)</p> Signup and view all the answers

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