Infants with PWS exhibit decreased fetal movement, weak cry, neonatal hypotonia, genital hypoplasia (cryptorchidism and clitoral hypoplasia), and failure to thrive (due to hypotonia and poor feeding). Toddlers with PWS acquire major motor milestones later than controls (walk at 24 months). Hyperphagia becomes evident between 18 months and 7 years of age. The majority of patients with PWS have growth hormone deficiency with short stature manifest during childhood and lack of a pubertal growth spurt. Individuals with PWS have an elevated pain threshold and vomiting threshold, with reports of delayed diagnoses of fractures, appendicitis, and gastroenteritis with significant morbidity. Obesity-related comorbid-ities, including sleep apnea, diabetes, and cor pulmo-nale, will shorten life expectancy without aggressive interventions. Behavioral problems, including obsessive-compulsive behavior (skin picking and rectal digging), stubbornness, and food foraging (including garbage and frozen food), are common; 5-10% of adults with PWS have features of psychosis.
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