Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
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 NICE NG62 Adam et al. 1993.
- Developmental delay and intellectual disability: Mild to moderate cognitive impairment and delayed motor milestones are common NICE NG62 Diene et al. 2007.
- Characteristic facial features: These include a narrow forehead, almond-shaped eyes, and a thin upper lip NICE NG62 Adam et al. 1993.
- Hyperphagia and obesity: From early childhood, an insatiable appetite develops, often leading to severe obesity if uncontrolled NICE NG62 Diene et al. 2007.
- Endocrine abnormalities: Hypogonadism with genital hypoplasia, growth hormone deficiency, and short stature are typical NICE NG62 Adam et al. 1993.
- Behavioral and psychiatric features: Temper tantrums, obsessive-compulsive behaviors, and sleep disturbances are frequently observed Cataldi et al. 2021 NICE NG62.
- 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 NICE NG62 Diene et al. 2007.
Key References
- NG62 - Cerebral palsy in under 25s: assessment and management
- CG89 - Child maltreatment: when to suspect maltreatment in under 18s
- NG246 - Overweight and obesity management
- (Diene et al., 2007): [The Prader-Willi syndrome].
- (Adam et al., 1993): Prader-Willi Syndrome.
- (Cataldi et al., 2021): Sleep disorders in Prader-Willi syndrome, evidence from animal models and humans.