From: Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Major criteria | |
1 | Neonatal and infantile central hypotonia with poor suck, gradually improving with age |
2 | Feeding problems in infancy with need for special feeding techniques and poor weight gain/failure to thrive |
3 | Excessive or rapid weight gain on weight-for-length chart (excessive is defined as crossing two centile channels) after 12 months but before 6 years of age; central obesity in the absence of intervention |
4 | Characteristic facial features with dolichocephaly in infancy, narrow face or bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip, down-turned corners of the mouth (3 or more are required) |
5 | Hypogonadism-with any of the following, depending on age |
(1) Genital hypoplasia, (male: scrotal hypoplasia, cryptorchidism, small penis and/or testes for age (5th percentile); female: absence or severe hypoplasia or labia minora and/or clitoris | |
(2) Delayed or incomplete gonadal maturation with delayed pubertal signs in the absence of intervention after 16 years of age (male: small gonads, decreased facial and body hair, lack of voice change; female: amenorrhea/oligomenorrhea after age 16) | |
6 | Global developmental delay in a child 6 years of age; mild to moderate mental retardation or learning problems in older children |
Minor criteria | |
1 | Decreased fetal movement or infantile lethargy or weak cry in infancy, improving with age |
2 | Characteristic behavior problems-temper tantrums, violent outbursts, and obsessive–compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative possessive, and stubborn; perseverating, stealing, and lying (5 or more of these symptoms required) |
3 | Sleep disturbance and sleep apnea |
4 | Short stature for genetic background by age 15 (in the absence of growth hormone intervention) |
5 | Hypopigmentation-fair skin and hair compared with family |
6 | Small hands (25th percentile) and/or feet (10th percentile) for height age |
7 | Narrow hands with straight ulnar borders |
8 | Eye abnormalities (esotropia, myopia) |
9 | Thick viscous saliva with crusting at corners of the mouth |
10 | Speech articulation defects |
11 | Skin picking |
Supportive findings | |
1 | High pain threshold |
2 | Decreased vomiting |
3 | Temperature instability in infancy or altered temperature sensitivity in older children and adults |
4 | Scoliosis and/or kyphosis |
5 | Early adrenarche |
6 | Osteoporosis |
7 | Unusual skill with jigsaw puzzles |
8 | Normal neuromuscular studies |