Developmental delay /
Intellectual disability
| Monitor developmental progress & educational needs. | At each visit |
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Cryptorchidism
| Monitor testicular position, as cryptorchidism may recur after orchidopexy. | Annually |
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Endocrine
| Glycosylated hemoglobin concentration &/or glucose tolerance test to assess for diabetes | Annually if obese or beginning in adolescence or w/rapid significant weight gain or other symptoms (e.g., polyuria/polydipsia) |
| Free T4 & TSH levels to assess for hypothyroidism | Every 6-12 mos beginning in infancy |
| Assess for central adrenal insufficiency | As needed based on symptoms & during illness & surgery |
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Growth/Appetite/Obesity
| Monitor height, weight, & BMI 1 | Every month in infancy Every 6 mos in 1st decade of life At least annually thereafter More frequently if caregivers identify rapid weight gain
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Behavioral/Psychiatric
| Assess for presence of behavioral findings & obsessive-compulsive features w/family or caregivers. | Annually after age 2 yrs |
Assess for psychosis. Evidence of radical behavior change, hallucinations, delusions, or disorientation should prompt psychiatry eval.
| Annually in adolescents & adults |
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Dermatologic
| Skin exam for sores &/or signs/symptoms of cutaneous infection | At each visit |
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Vision
| Ophthalmologic exam to assess for strabismus &/or refractive errors | Annually |
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Sleep
| Assess for snoring, frequent nocturnal awakening, & new behavioral issues w/family or caregivers. | Annually |
| Evaluate respiratory status during sleep w/sleep study. | Prior to initiation of GH therapy & 4-8 wks after starting GH therapy, & if clinical symptoms arise thereafter (e.g., snoring, frequent nocturnal awakening, behavioral issues) |
| Overnight sleep study followed by multiple sleep latency testing & video EEG | In those w/excessive daytime sleepiness / narcolepsy / cataplexy |
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Scoliosis
| Clinical exam for scoliosis | At each visit beginning when child can sit independently |
| Spine x-rays for scoliosis in those w/:
| Annually |
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Osteoporosis
| Bone densitometry by DXA scan | Every 2 yrs beginning in adolescence |
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Seizures
| Assess for new seizures or monitor those w/seizures as clinically indicated. | At each visit |
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Dental
| Dental eval | At least every 6 mos after teeth erupt or every 3-4 mos if dental issues are present |
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Family/Community
| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit |
