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. 2019 Jan 29;7(3):e514. doi: 10.1002/mgg3.514

Table 1.

Medical checklist for providers managing PWS

Age Medical Eval Anticipatory guidance Medical referrals Labs Diagnostic Medication/supplement considerations
Newborn infants
  • Feeding

  • Growth & Dev't

  • Tone

  • Gonadal dev'ta

  • <20 min per feeding

  • Diet has appropriate macro‐ and micronutrients development

  • Early intervention services

  • Sufficient environmental stimulation

  • Support groups

  • Genetics

  • Endocrine

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • OT, PT, ST

  • Neurology, Urology prn

  • IGF1, IGFBP3

  • Thyroid studies (free T4 and TSH)d

  • 25‐OH vitamin D

  • PSG (before starting GH and 8–12 weeks after starting)

  • Echocardiogram if murmur (4% CHD)

  • Hip US (DDH)

  • Feeding eval

  • Growth hormone*

  • Multivitamin

  • Trial the supplementsc

1 month–1 year
  • Growth & dev't

  • Gonadal dev't

  • Vision (strabismus)

  • Feeding

  • Early interventional services

  • Cognitive dev't

  • Routines

  • Limit‐setting

  • Seizures (5%–10%)

  • Support groups

  • Endocrine

  • Genetics

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • ST, OT, PT

  • Audiology

  • Neurology, urology prn

  • IGF1d, IGFBP3d

  • Thyroid studiesd

  • CBC

  • B12 level prn

  • Adrenal eval

  • 25‐OH vitamin D

  • iron studies

  • PSG as above

  • Swallow study

  • EEG prn

  • Scoliosis screening X‐ray (when can sit up with core)

  • X‐ray hip (DDH)

  • Growth hormone*

  • HCG in males with cryptorchidism (3–18 months old); consider orchiopexy

  • Multivitamin

  • Trial the supplementsc

1–5 years old
  • Growth & dev't

  • Vision

  • Hearing

  • Feeding

  • Scoliosis

  • Sleep

  • Behavior

  • Gastroenterology/nutrition

  • Dental Care (increased risk of caries)

  • Early intervention

  • Behavior

  • Socialization

  • Access to food and environmental modifications for the family

  • Constipation

  • Slowed metabolism

  • Routine

  • Limit‐setting

  • Support groups

  • DDA

  • Endocrine

  • Genetics

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • ST, OT, PT hippotherapy aquatic, and others

  • Behavioral specialist

  • Dentiste

  • Neurology prn

  • IGF1d, IGFBP3d

  • Thyroid studiesd

  • Calcium

  • Electrolytes

  • CBC

  • B12 prn

  • Adrenal eval

  • Lipid panel

  • 25‐OH vit D

  • iron studies

  • PSG prn

  • Swallow evaluation prn

  • EEG prn

  • Scoliosis screening X‐ray

  • NP eval

  • Growth hormone*

  • HCG in males with cryptorchidism (3–18 months old), consider orchiopexy

  • Trial of supplementsc

5–13 years oldj
  • Growth & dev't

  • Pubertal dev't (premature adrenarche, precocious puberty)

  • Vision

  • Skin examination (picking)

  • Hearing

  • Feeding

  • Scoliosis

  • Sleep

  • Behavior

  • Gastroenterology/nutrition

  • Access to food as noted

  • Socialization

  • Routine

  • Limit‐setting

  • Constipation

  • Weight management

  • Behavior

  • OSA

  • Daytime sleepiness

  • High pain tolerance

  • Gastric necrosis

  • Support groups

  • DDA

  • Endocrine

  • Genetics

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • ST, PT, OT hippotherapy aquatic, and others

  • Behavioral specialist

  • Neurology prn

  • Dentiste

  • Thyroid studies,d

  • IGFI,d IGFBP3d

  • Hemoglobin A1C

  • Fasting insulin and glucose

  • Calcium

  • Electrolytes

  • CBC

  • B12 prn

  • Adrenal eval

  • Lipid panel

  • Pubertal eval as indicated

  • PSG prn

  • Feeding eval

  • MSLT prn

  • PFTs

  • EEG prn

  • Scoliosis screening X‐ray

  • NP eval

  • Growth hormone*

  • modafinilg

  • stimulantf

  • N‐acetylcysteine

  • SSRIsh

  • Antipsychotics

  • Metformin

  • supplementsc

13–21 years old
  • Cardio‐vascular examination (at risk for heart failure) if obese

  • Skin examination (Picking)

  • Pubertal dev't

  • Scoliosis

  • Feeding

  • Exercise

  • Psychosis

  • Behavior

  • Gastroenterology/nutrition

  • Routine

  • Skin care

  • Behaviors (e.g., psychosis)

  • School placement

  • Gastic necrosis

  • Gynecologic care

  • Constipation

  • Weight management

  • Access to food as noted

  • Sexual/behavioral health

  • Socialization

  • Guardianship

  • Transition of care

  • Support groups

  • DDA

  • Endocrine

  • Genetics

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • ST, PT, OT, hippotherapy aquatic, and others

  • Behavioral specialist

  • Psychiatry prn

  • Neurology prn

  • Dentiste

  • Thyroid studiesd

  • IGF1,d IGFBP3d

  • Fasting insulin and glucose

  • Hemoglobin A1C

  • Oral glucose tolerance test

  • Calcium

  • CBC

  • Electrolytes

  • B12 prn

  • Lipid panel

  • Adrenal eval

  • Pubertal evalj

  • PSG prn

  • Feeding eval

  • DEXA

  • MSLT prn

  • EEG prn

  • Pelvic US assess uterine lining

  • Scoliosis screening X‐ray

  • NP eval

  • Growth hormone

  • modafinilg

  • stimulantf

  • N‐acetylcysteine

  • SSRIsh

  • antipsychotics

  • HRT

  • Metformin

  • GLP−1 receptor agonistsi

  • supplementsc

Adult
  • Cardio‐vascular examination (at risk for heart failure)

  • Skin exam

  • Weight

  • Psychosis

  • Sleep

  • Behavior

  • Gastroenterology/Nutrition

  • Routine

  • Skin care

  • Behavior (e.g., psychosis)

  • Risk intestinal necrosis

  • Daytime sleepiness

  • Gynecologic care

  • Socialization

  • Constipation

  • Weight management

  • Guardianship

  • Transition of care

  • Support groups

  • DDA

  • Endocrine

  • Genetics

  • Ophthalmologyb

  • Pulmonary

  • Nutrition

  • ST, PT, OT, hippotherapy aquatic, and others

  • Behavioral specialist

  • Psychiatry prn

  • Neurology prn

  • Dentiste

  • Thyroid studiesd

  • IGF1 (at least yearly)

  • Hemoglobin A1C

  • Fasting insulin and glucose

  • Oral glucose tolerance test

  • Calcium

  • Electrolytes

  • CBC

  • B12 prn

  • Lipid Panel

  • Adrenal eval

  • Pubertal evalj

  • PSG prn

  • Swallow study prn

  • DEXA

  • MSLT prn

  • PFTs

  • EEG prn

  • Pelvic US as above

  • X‐ray to monitor scoliosis

  • Growth hormone

  • HRT

  • modafinilg

  • stimulantf

  • antipsychotics

  • N‐acetylcysteine

  • SSRIsh

  • Metformin

  • GLP−1 receptor agonistsi

  • supplementsc

AI: adrenal insufficiency; CBC: complete blood count; CHD: congenital heart disease; CoQ10: coenzyme Q10; DDA: developmental disabilities administration; DDH: developmental dysplasia of the hip; dev't: development; DEXA: dual‐energy X‐ray absorptiometry; DHA: docosahexaenoic acid; DHEA‐S: dehydroepiandrosterone sulfate; EEG: electroencephalogram; Eval: evaluation; FSH: follicle stimulation hormone; GGT: glucose tolerance test; GH: growth hormone; GLP‐1: glucagon‐like peptide‐1; HCG: human chorionic gonadotropin; HRT: hormone replacement therapy; IGF1: insulin‐like growth factor 1, somatomedin C; IGFBP3: insulin‐like growth factor‐binding protein 3; LH: luteinizing hormone; MCT: medium‐chain triglycerides; MSLT: multiple sleep latency test; NP: neuropsychological eval; OCD: obsessive–compulsive disease; OSA: obstructive sleep apnea; OT: occupational therapy; PFT: pulmonary function tests; prn: as needed; PSG: polysomnography; PT: physical therapy; PWS: Prader–Willi syndrome; SSRI: selective serotonin reuptake inhibitor; ST: speech therapy; T4: thyroxine; TSH: thyroid stimulation hormone; US: ultrasound.

*

FDA approved treatment.

a

Assess if testes are descended or whether an inguinal hernia is present.

b

As needed (at risk for strabismus, cataracts and/or nystagmus).

c

Trial of supplements (one at a time) such as CoQ10, Carnitine, MCT oil, DHA, B12 particularly if low levels are detected.

d

At least once yearly (or if symptomatic for thyroid disease).

e

More frequent cleaning every 3–4 months.

f

If child has attention deficit symptoms and/or impulsivity.

g

Based on behavior and sleepiness during the day.

h

For behavioral concerns, depression, anxiety particularly if severe.

i

For treatment for insulin resistance on case‐by‐case basis.

j

Consider on case‐by‐case basis: Testosterone (total, male), Prolactin, DHEA‐S (adrenarche), FSH/LH (ultrasensitive for precocious puberty), Estradiol (female), anti‐Mullerian hormone, Inhibin B