Table 1.
Age | Medical Eval | Anticipatory guidance | Medical referrals | Labs | Diagnostic | Medication/supplement considerations |
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Newborn infants |
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1 month–1 year |
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1–5 years old |
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5–13 years oldj |
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13–21 years old |
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Adult |
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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.
Assess if testes are descended or whether an inguinal hernia is present.
As needed (at risk for strabismus, cataracts and/or nystagmus).
Trial of supplements (one at a time) such as CoQ10, Carnitine, MCT oil, DHA, B12 particularly if low levels are detected.
At least once yearly (or if symptomatic for thyroid disease).
More frequent cleaning every 3–4 months.
If child has attention deficit symptoms and/or impulsivity.
Based on behavior and sleepiness during the day.
For behavioral concerns, depression, anxiety particularly if severe.
For treatment for insulin resistance on case‐by‐case basis.
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