Prader-Willi syndrome: neurological features
Evidence-based neurology checklist on prader-willi syndrome: neurological features: Neuropsychiatric features Epilepsy Learning difficulty Cognitive impairment Infantile hypotonia Psychosis Temperature instability High pain threshold Cataplexy: this can be triggered by eating Dysmorphic features…
Neuropsychiatric features
- Epilepsy
- Learning difficulty
- Cognitive impairment
- Infantile hypotonia
- Psychosis
- Temperature instability
- High pain threshold
- Cataplexy: this can be triggered by eating
Dysmorphic features
Behavioural features
References
- Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome: clinical genetics and diagnostic aspects with treatment approaches. Curr Pediatr Rev 2016; 12:136-166.
- Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet 2009; 17:3-13.
- Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38:1249-1263.
- Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr 2016; 63:47-77.
- Chiarella L, Cordani R, Veneruso M, Barbieri A, Napoli F, Maghnie M, Nobili L. Teaching Video NeuroImage: Eating-related cataplexy in Prader-Willi syndrome. Neurology 2026; 106:e218016.
