What are the key clinical features to consider when diagnosing Prader-Willi Syndrome in a child?

Key clinical features to consider when diagnosing Prader-Willi Syndrome (PWS) in a child include:

• Neonatal hypotonia and feeding difficulties: Infants typically present with marked hypotonia leading to poor suck and failure to thrive in early infancy ¹ (Adam et al., 1993).
• Developmental delay and intellectual disability: Mild to moderate cognitive impairment and delayed motor milestones are common ¹ (Diene et al., 2007).
• Characteristic facial features: These include a narrow forehead, almond-shaped eyes, and a thin upper lip ¹ (Adam et al., 1993).
• Hyperphagia and obesity: From early childhood, an insatiable appetite develops, often leading to severe obesity if uncontrolled ¹ (Diene et al., 2007).
• Endocrine abnormalities: Hypogonadism with genital hypoplasia, growth hormone deficiency, and short stature are typical ¹ (Adam et al., 1993).
• Behavioral and psychiatric features: Temper tantrums, obsessive-compulsive behaviors, and sleep disturbances are frequently observed (Cataldi et al., 2021) ¹.
• Sleep disorders: Excessive daytime sleepiness and sleep apnea are common and contribute to morbidity (Cataldi et al., 2021).

These features together form the clinical basis for suspecting PWS, which should prompt genetic testing for confirmation ¹ (Diene et al., 2007).