18 Questions
Which syndrome is known for having a 'Greek Warrior Helmet' appearance?
Wolf-Hirschhorn syndrome
Which syndrome presents with delayed motor development and increased joint laxity at the atlantoaxial joint?
Down's Syndrome
Which syndrome can be diagnosed based on features like respiratory complications, short palpebral fissures, and visual acuity abnormalities?
Rett Syndrome
Which syndrome is associated with ventricular septal defects and atrial septal defects?
Edwards Syndrome
Which syndrome is NOT associated with congenital heart defects such as atrioventricular septal defect (AVSD) or tetralogy of Fallot?
Williams Syndrome
Which syndrome can present with blepharitis, keratoconus, cataract, and other eye-related anomalies?
Down's Syndrome
Which of the following is considered an exclusion criterion for typical Rett Syndrome?
Grossly abnormal psychomotor development in the first 6 months of life
What is a common supportive criterion for atypical Rett Syndrome?
Breathing disturbances when awake
Which criterion is required for a diagnosis of typical or classic Rett Syndrome?
A period of regression followed by recovery or stabilization
What distinguishes the diagnosis of atypical or variant Rett Syndrome?
A period of regression followed by recovery or stabilization
Which of the following is a main criterion for Rett Syndrome?
Hand wringing/ squeezing automatisms
What characteristics are indicative of developmental delays in children requiring physical therapy?
Gait abnormalities: impaired (dyspraxia) or absence of ability (apraxia)
Which of the following is a characteristic feature of Lesch-Nyhan syndrome?
Persistent self-injurious behavior such as biting fingers, hands, lips, and cheeks
Which of the following is a characteristic feature of Prader-Willi syndrome?
Severe infantile hypotonia with poor suck and failure to thrive, followed by early-childhood onset obesity and hyperphagia
Which of the following is a characteristic feature of Rett syndrome?
Mutation of the MECP2 gene leading to regression of previously acquired skills after a period of typical development
Which stage of Rett syndrome is characterized by rapid and specific regression of acquired abilities?
The Rapid Developmental Regression Period (Stage II)
Which of the following is a role of a physical therapist in managing developmental delays?
Providing sensory integration therapy to improve sensory processing and motor skills
Which stage of Rett syndrome is characterized by the cessation of walking and the need for a wheelchair?
Late Motor Deterioration (Stage IV)
This quiz covers the hallmark features of Lesch Nyhan syndrome such as persistent self-injurious behavior, and the characteristics of Prader Willi syndrome including the absence of expression of imprinted genes in the paternally derived region. Topics also include severe infantile hypotonia, hypogonadism, and failure to thrive.
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