Gastrointestinal/
Nutrition
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Gastroenterology / nutrition / feeding team eval
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To incl eval of growth, aspiration risk, & nutritional status Consider eval for gastrostomy tube placement in infants w/dysphagia &/or aspiration risk.
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Neurologic
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Neurologic eval Assess for ataxia, dysmetria, dysarthria. Administer clinical ataxia scale (e.g., ICARS).
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Consider baseline neuroimaging. Baseline EEG if seizures are a concern Nerve conduction studies in older affected persons
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Development
| Developmental assessment | To incl:
Motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
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PT/OT assessment |
In infants: gross motor & fine motor skills In older children / adults assess mobility, ADL, & need for adaptive devices.
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Speech therapy assessment |
In infants, eval to assess suck & swallow In older children / adults assess communication both oral & w/adaptive devices to optimize care & independence.
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Eyes
| Ophthalmologic eval | To assess:
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Cardiac
| Echocardiogram, EKG & chest x-ray to evaluate for cardiac anomalies, hypertrophic cardiomyopathy, & pericardial effusions | |
Liver function
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Hematologic
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Complete blood count Assessment of bleeding & clotting parameters by hematologist incl prothrombin time, protein C, protein S, antithrombin III, factor IX, & factor XI
| If prothrombin time is prolonged incl: factor II, factor V, factor VII & factor X. |
Endocrine
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Height assessment TSH, thyroid binding globulin & free T4 Calcium, magnesium, & phosphorus Glucose
| In those w/hypoglycemia: further workup should incl: plasma insulin, cortisol, growth hormone, lactic acid, ammonia beta-hydroxybutyrate, free fatty acids, & urinary ketones |
Assess gonadal function at pubertal age including tanner stage, growth velocity, bone age, FSH, LH, estradiol in females and testosterone & sex hormone binding globulin in males | |
Renal
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Musculoskeletal
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Orthopedics / physical medicine & rehab / PT & OT assessment for contractures & skeletal deformities C-spine radiographs in neutral, extension, & flexion to assess for atlantoaxial instability Assessment for kyphoscoliosis starting at adolescence DXA scan starting in adolescence
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Immunology
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Genetic
counseling
| By genetics professionals 1 | To inform affected persons & their families re nature, MOI, & implications of PMM2-CDG to facilitate medical & personal decision making |
Family support
& resources
| Assess need for:
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