Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Allan-Herndon-Dudley Syndrome

System/ConcernEvaluationComment
Constitutional Measure height, weight, BMI, head circumferenceTo be regularly followed
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Musculoskeletal Orthopedic, physical medicine & rehab, PT, & OT evalTo include assessment of:
  • Gross motor & fine motor skills
  • Contractures & kyphoscoliosis
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Osteoporosis evaluation in non-ambulatory patients
  • Osteodensitometry (DXA)
  • Phospho-calcic equilibrium
Gastrointestinal/
Feeding 		Gastroenterology, nutrition, & feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in patients w/dysphagia &/or aspiration risk.
Gastrointestinal Assess for constipationMay be assoc w/weight loss & exacerbation of abnormal movements (dystonia, choreoathetosis)
Pulmonary Respiratory function
  • To incl lung function & respiratory status
  • Consider eval of noninvasive ventilation or antibiotic therapy in patients w/recurrent respiratory infections & hypoventilation.
Thyroid Free T3, free T4, total T4, TSH, T3Only if treatment w/T3 analogs
Signs of dysthyroidismSigns of dysthyroidism can incl tachycardia, high blood pressure, intestinal troubles, osteoporosis, weight loss.
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling
Family support/resourcesAssess:
  • Use of community or online resources such as Parent to Parent;
  • Need for social work involvement for parental support;
  • Need for home nursing referral.

BMI = body mass index; DXA = dual-energy x-ray absorptiometry; OT = occupational therapy; PT = physical therapy

From: Allan-Herndon-Dudley Syndrome

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