Table 4.

Ataxia-Telangiectasia: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Classic A-TVariant A-T
Neurologic By neurologist familiar w/A-T, when possibleAssess for ataxia (w/SARA 1 &/or ICARS) & extrapyramidal movement disorders such as dystonia, chorea, parkinsonism, myoclonus & tremor. Consider using specific scales for A-T such as A-T NEST 2 or ATFS
Rehabilitation Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures & scoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Dysarthria By speech-language pathologistEvaluate speech production & language.
Dysphagia/Feeding/
Nutrition 		Nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement if nutritional status is poor &/or if there is dysphagia &/or ↑ risk of aspiration.
Usually not a concern early in disease course
Oculomotor problems Exam by neurologistSpecific eval by ophthalmologist or eye specialist not regularly required; only if indicated
Cognition/Behavior By neurologist or OT familiar w/A-T, when possibleUsually not a concern. Because (moderate to) severe ID is not a hallmark of A-T, if there are such concerns, an additional cause should be sought.Usually not a concern
Increased susceptibility to malignancy Assessment by doctor of internal medicine / pediatricianIn all persons:
  • Eval for clinical manifestations of malignancy (e.g., lymphadenopathy)
  • Laboratory tests to assess for hematologic malignancies (per annual screening; see Table 5)
In adults: breast MRI (in females) & abdominal echo (per annual screening; see Table 5)
Immunodeficiency Assessment by immunologistEvaluate:
  • For humoral & cellular immune defects;
  • Whether immunoglobulin substitution therapy is indicated;
  • Vaccination status.
Usually not a concern
Infection Assessment by primary care clinician / pulmonologist
  • Assess for sinopulmonary infection.
  • Determine need for prophylactic antibiotic treatment.
Usually not a concern
Pulmonary disease Assessment by immunologist / pulmonologist / doctor of internal medicine / pediatrician
  • Assess for pulmonary function 3 & common causes of pulmonary disease.
  • Assess lung function when possible (often age >4 yrs).
Usually not a concern
Endocrine abnormalities Assessment by doctor of internal medicine / pediatrician
  • Assess length/height in children (using standard growth charts).
  • Assess age-appropriate pubertal development.
  • Screening for diabetes, cardiovascular disease, & hepatic disease in adolescents & adults
Usually not a concern
Genetic counseling By genetics professionals 4To inform affected persons & their families re nature, MOI, & implications of A-T (& heterozygosity for an ATM pathogenic variant) to facilitate medical & personal decision making
Family support
& resources 		Assess need for: For difficult life-prolonging decisions or for clarification of treatment options, consider further consultation w/independent clinical teams. 5

ADL = activities of daily living; ATFS = Ataxia Telangiectasia Functioning Scale; A-T NEST = Ataxia-Telangiectasia Neurological Examination Scale Toolkit; ICARS = International Cooperative Ataxia Rating Scale; ID = intellectual disability; ILD = interstitial lung disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia

1.
2.
3.

Regarding interstitial lung disease (ILD), spirometry can detect restrictive lung disease. Decreased forced vital capacity (FVC) is possibly the result of abnormalities in respiratory muscle coordination or scoliosis. Helium dilution measurements can help discriminate between true restrictive lung disease and an inability to expire to residual volume. Although a lung biopsy can help confirm the diagnosis of ILD, the diagnostic benefits should be weighed against the risks of the procedure [McGrath-Morrow et al 2010, McGrath-Morrow et al 2021].

4.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

5.

From: Ataxia-Telangiectasia

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