PREFERRED PRACTICE PATTERN
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.
Examples of structural chromosomal abnormalities: (A) Deletion, (B) duplication, (C) inversion, (D) ring chromosome, (E) translocation, and (F) insertion. (From Hay WW Jr, Levin MJ, Deterding RR, Abzug MJ, Sondheimer JM. Current Diagnosis & Treatment: Pediatrics. 21st ed. www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)
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
SIGNS AND SYMPTOMS
Poor suck/swallow at birth
Hypotonia in infancy
Specific facial features such as almond-shaped eyes
Inability to regulate appetite
Hypogenitalism/Males with undescended testicles5
Small hands and feet4,5
Possible Contributing Causes
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