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CONDITION/DISORDER SYNONYM
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PREFERRED PRACTICE PATTERN
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PATIENT PRESENTATION
A 3-month-old infant is referred to physical therapy for examination due to hypotonia. The infant is diagnosed with failure to thrive and difficulty feeding resulting in placement of a gastrostomy tube (G-tube) to assist with weight gain and growth. The mother reports no difficulty with pregnancy and delivery. Upon examination, the infant has poor head control and is unable to achieve prone-on-elbows. After several months, the infant is referred to a geneticist and ultimately, the infant is diagnosed with Prader–Willi syndrome. The infant receives physical therapy through an early intervention program and continues to exhibit developmental delay.
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Essentials of Diagnosis
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Two stages3,6
Stage 1 occurs during infancy with hypotonia and poor suck/swallow reflex that may result in failure to thrive
Stage 2 generally begins at about 2 years of age with lack of satiety progressing to obesity
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General Considerations
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SIGNS AND SYMPTOMS
Poor suck/swallow at birth
Hypotonia in infancy
Specific facial features such as almond-shaped eyes
Hypogonadism
Strabismus4
Short stature
Obesity
Cognitive deficits
Inability to regulate appetite
Hypogenitalism/Males with undescended testicles5
Small hands and feet4,5
Developmental delay
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Possible Contributing Causes
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Functional Implications
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