TABLE 1.

Clinical Score-Based Criteria for Diagnosis of Prader-Willi Syndrome adapted from Holm et al. (1993) and (Gunay-Aygun et al., 2001).

Criteria	Features/Symptoms	Points allocated
Major	Deletion of the 5q11–13 region on high resolution (>650 bands) or additional types of cytogenetic and/or molecular deregulation in the Prader-Willi chromosome region	1
	Neonatal and infantile central hypotonia	1
	Issues with feeding during infancy	1
	Rapid weight gain between 1–6 years of age with central obesity	1
	Characteristic facial features (almond eyes, small mouth with thin upper lip, down-turned corners of the mouth)	1
	Hypogonadism	1
	Hyperphagia	1
	Global developmental delay (<6 years)	1
Minor	Infantile lethargy	0.5
	Behaviour problems	0.5
	Sleep disorders	0.5
	Short height	0.5
	Hypopigmentation	0.5
	Eye abnormalities (esotropia, myopia)	0.5
	Speech impairments	0.5
Supportive	High pain threshold
	Early adrenarche
	Osteoporosis
	Temperature instability
	Scoliosis and/or kyphosis