Table 7.

POLG-related disorders: Recommended Surveillance

System/ConcernEvaluationFrequency
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & movement disorders.
  • EEG & video EEG monitoring (e.g., for suspicion of subclinical status epilepticus or EPC, to determine if events are seizures or non-epileptic movements)
At each visit
Development Monitor developmental progress & educational needs.
Neurobehavioral/
Psychiatric 		Assessment for anxiety, ADHD, ASD, aggression, & depression
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Liver function & metabolic status
  • Complete blood count
  • Electrolytes
  • Liver enzymes (AST, ALT, GGT)
  • CK level
  • Liver function tests incl preprandial serum glucose level; serum concentration of ammonia, albumin, bilirubin (free & conjugated), & cholesterol; coagulation factors incl prothrombin time or INR
Every 3 mos, or as clinically indicated
  • Urine analysis
  • Lactic acid levels
  • Liver ultrasound
Annually or as clinically indicated
  • Plasma amino acids
  • Plasma concentration of free & total carnitine (unless treated w/levocarnitine, in which case measure annually)
Gastrointestinal Monitor for swallowing dysfunction through barium swallow study, gastrointestinal paresis, constipation, feeding intolerance, or malabsorption.At each visit or as clinically indicated
Respiratory Monitor for evidence of aspiration & respiratory insufficiency.At each visit
Polysomnogram w/CPAP titration as part of an eval of subacute mental status changes, apnea, or snoringAs clinically indicated or every 2-3 yrs
Auditory Audiogram or brain stem auditory evoked responsesAs clinically indicated
Ophthalmologic involvement Routine ophthalmologic examPer treating ophthalmologist(s)
Low vision servicesPer treating clinicians
Cardiovascular Routine cardiac examAt each visit
Endocrine Laboratory testing for thyroid or adrenal dysfunctionUpon critical illness or as clinically indicated
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

ADHD = attention-deficit/hyperactivity disorder; ALT = alanine transaminase; ASD = autism spectrum disorder; AST = aspartate transaminase; CK = creatine kinase; EPC = epilepsia partialis continua; GGT = gamma-glutamyl transferase; INR = international normalized ratio; OT = occupational therapy; PT = physical therapy

From: POLG-Related Disorders

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