Table 5.

Mitochondrial DNA-Associated Leigh Syndrome Spectrum: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Neurologic
  • Neurologic eval
  • Brain MRI & MRS
  • Plasma & CSF lactate & pyruvate
  • Urine organic acids
  • Consider EEG if seizures are suspected.
  • Consider nerve conduction studies if neuropathy is suspected (due to history or ↓/absent reflexes on clinical exam).
Pulmonology Assess for apnea, hyperventilation, or irregular respiration.Consider referral for sleep study.
Feeding/
Nutrition
  • Measurement of growth parameters
  • Nutrition / feeding team eval
To incl eval of nutritional status & aspiration risk w/consideration of radiographic assessment of swallow
Development/
Cognition 		Developmental &/or cognitive assessmentEval for early intervention / special education in children
Musculoskeletal PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Eyes Ophthalmologic evalTo assess for reduced vision, abnormal ocular movement, strabismus, & more complex findings (e.g., retinal dystrophy) that may require referral for subspecialty care &/or low vision services
Cardiology
  • Blood pressure
  • EKG
  • Echocardiogram
  • Referral to cardiologist to screen for conduction defects, arrythmias, or cardiomyopathy.
  • Consider Holter monitoring in high-risk individuals.
Liver
  • Liver function tests incl transaminases, bilirubin, albumin, & coagulation studies
  • Consider abdominal ultrasound.
To assess for liver dysfunction
Renal
  • Urinalysis, urine albumin-to-creatinine ratio, urine amino acids
  • Serum electrolytes, BUN, creatinine
To assess for renal dysfunction
Hearing Audiologic evalTo assess for hearing loss
Hematology Complete blood countTo assess for anemia
Endocrine Random glucoseConsider hemoglobin A1c or oral glucose tolerance test depending on clinical history to screen for diabetes mellitus.
Psychosocial Assess for anxiety & other psychosocial manifestations
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of mtDNA-LSS to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ADL = activities of daily living; BUN = blood urea nitrogen; CSF = cerebrospinal fluid; MOI = mode of inheritance; MRS = magnetic resonance spectroscopy; mtDNA-LSS = mitochondrial DNA-associated Leigh syndrome spectrum; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Mitochondrial DNA-Associated Leigh Syndrome Spectrum

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