Table 8.

TBC1D24-Related Disorders: Recommended Surveillance

System/ConcernEvaluationFrequency
Neurologic
  • Monitor those w/seizures as clinically indicated, w/repeat EEGs as indicated depending on seizure frequency &/or progression.
  • Assess for new manifestations such as seizures or any other neurologic features.
  • At each visit
  • Persons w/epilepsy, irrespective of cause, should have periodic EEGs.
  • Consider repeat neuroimaging in case of new symptoms or clinical deterioration.
Hearing loss Assess for any hearing issues, possible progression of hearing loss, &/or efficacy of hearing aidsAnnual audiologic eval
Dental issues Assess for dental anomalies (e.g., delayed eruption, wide spacing, & abnormal shape, size, & number)Annual dental eval
Endocrine function Monitor for thyroid dysfunction.Annually
Development Monitor developmental progress & educational needs.At each visit
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).

From: TBC1D24-Related Disorders

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