Table 4.

FOLR1-Related Cerebral Folate Transport Deficiency: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Neurologic Neurologic eval
  • Eval of seizures: type, frequency
  • Assessment of gait
  • Assessment for hypotonia, tremor, strabismus, nystagmus
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Intellectual disability Age-related cognitive testing
Behavior issues By pediatrician or mental health professionalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances
Musculoskeletal/ADL Orthopedics / physical medicine & rehab / 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)
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of FOLR1-CFTD to facilitate medical & personal decision making
Family support
& resources 		Assess need for: May be helpful for the families of persons w/neurologic impairment resulting from untreated FOLR1-CFTD

ADL = activities of daily living; FOLR1-CFTD = FOLR1-related cerebral folate transport deficiency; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: FOLR1-Related Cerebral Folate Transport Deficiency

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