Table 4

Four cases

Case 1Case 2Case 3Case 4
Major criteria
    Severe floppiness at birth with later improvementYes, someYesYesYes
    Poor suck at birth with later improvementYes, someYesYesYes
    Difficulty feeding at birthYesYesYesYes
    Obesity during childhood (age when noticed)Yes (2)Yes (3)Yes (1.25)Yes (8)
    Hypogonadism with any of the following, depending on age:YesYesNoYes
        Undescended testes, surgery on testes, decreasedNoYesNo
        facial and body hair, lack of voice change/age at voice change, early pubertal signsYesYesNo
        Does/did she have periods (no if only when on pill), age of first period, how many periods per year early pubertal signsNo
    Learning difficultiesYesYesYesNo MR
    Tendency to overeat/obsession with food (from age)Yes (2.5)Yes (2)Yes (2)No
    Deletion 15q11-13 on high resolution (>650 bands) or otherYesNoNoYes
    cytogenetic/molecular abnormality of the PWS chromosomedel 15q12del on 6Small del
    region, including maternal disomyMeth normalMeth normalMeth normalMeth PWS
Minor criteria
    Decreased movement of baby during pregnancyYesYesYesYes
    Weak cry or inactivity as a babyYesYesSomeYes
    Frequency and severity of any: temper tantrums, repetitive questioning, obsessional behaviour, violent/aggressive behaviour, fluctuations in mood, argumentative, lying, stealing, stubborn, any other behaviour problems6982
    Disturbed or noisy sleepYesYesYesNo
    Short heightNo?YesNoYes
    Growth hormone everNoYesNoYes
    Hypopigmentation, fair skin and hair compared to familySandy hairFair skinNoNo
    Small hands or feetYesYesHandsHands
    Eye problems (short sight, long sight, squint)YesYesYesNo
    Thick saliva with crusting at corners of mouthNoNoNoNo
    Difficulty with articulating wordsYesYesYesYes
    Skin pickingYesYesYesSome
Supportive findings
    High pain thresholdYesYesYesSome
    Decreased vomiting. Ever vomited: frequencyLittleLittleLittleNever
    Not feeling hot or cold: abnormal temperature responseYesYes??
    Scoliosis or spinal curvatureNoNoNoNo
    Unusual skill with jigsaw puzzlesYesNoNoYes