Major criteria
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Neonatal and infantile central hypotonia with poor suck, gradually improving with age | Severe floppiness at birth with later improvement |
| Poor suck at birth with later improvement |
Feeding problems in infancy with need for special feeding techniques and poor weight gain/failure to thrive | Difficulty feeding at birth (need for special feeding techniques) |
Excessive or rapid weight gain on weight for length chart (excessive defined as crossing two centile channels) after 12 months but before 6 years of age; central obesity in the absence of intervention | Obesity during childhood, age when noticed, maximum weight ever and age when reached |
Characteristic facial features with dolichocephaly in infancy, narrow face or bifrontal diameter, almond shaped eyes, small appearing mouth with thin upper lip, downturned corners of the mouth (3 or more required) | |
Hypogonadism with any of the following, depending on age: | Males: undescended testes, surgery on testes, decreased facial and body hair, lack of voice change/age at voice change, early pubertal signs, small penis |
(A) Genital hypoplasia, male: scrotal hypoplasia, cryptorchidism, small penis and/or testes for age (<5th centile); female: absence or severe hypoplasia of labia minora and/or clitoris | |
| Females: does/did she have periods (no if only when on pill), age of first period, how many periods per year, early pubertal signs |
(B) Delayed or incomlete 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: amenorrhoea/oligomenorrhoea after age 16) | |
Global developmental delay in a child younger than 6 years of age; mild to moderate mental retardation or learning problems in older children | Learning difficulties |
Hyperphagia/food foraging/obsession with food | Tendency to overeat/obsession with food. |
Deletion 15q11-13 on high resolution (>650 bands) or other cytogenetic/molecular abnormality of the PWS chromosome region, including maternal disomy | Genetic testing done, result of testing, where testing was done |
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Minor criteria | |
Decreased fetal movement or infantile lethergy or weak cry in infancy, improving with age | Decreased movement of baby during pregnancy |
| Weak cry or inactivity as a baby |
Characteristic behaviour problems: temper tantrums violent outbursts and obsessive-compulsive behaviour, tendency to be argumentative, oppositional, rigid, manipulative, possessive, and stubborn; perseverating, stealing, and lying (5 or more of these symptoms required) | Frequency and severity of any: temper tantrums, skin picking, repetitive questioning, obsessional behaviour, violent/aggressive behaviour, fluctuations in mood, argumentative, lying, stealing, stubborn, any other behaviour problems |
Sleep disturbance or sleep apnoea | Disturbed or noisy sleep |
Short stature for genetic background by age 15 (in the absence of growth hormone intervention) | Short height: heights of proband, mother, father, height centile. Growth hormone ever (dates) |
Hypopigmentation: fair skin and hair compared to family | Fair skin and hair compared with family |
Small hands (<25th centile) and/or feet (<10th centile) for height age | Small hands or feet (parents & researchers agree) |
Narrow hands with straight ulnar border | |
Eye abnormalities (esotropia, myopia) | Eye problems (short sight, long sight, squint) |
Thick viscous saliva with crusting at corners of the mouth | Thick saliva with crusting at corners of mouth |
Speech articulation defects | Difficulty with articulating words |
Skin picking | |
Supportive findings | |
High pain threshold | High pain threshold (examples) |
Decreased vomiting | Ever vomited: circumstances, frequency (0, <normal, normal) |
Temperature instability in infancy or altered temperature sensitivity in older children and adults | Not feeling hot or cold when others are: abnormal temperature response |
Scoliosis and/or kyphosis | Scoliosis or spinal curvature |
Early adrenarche | |
Osteoporosis, thin bones, eg, easily broken | |
Unusual skill with jigsaw puzzles | Unusual skill with jigsaw puzzles |
Normal neuromuscular studies | |