Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with ADCY5 Dyskinesia

System/ConcernEvaluationComment
Neurologic
involvement
By a neurologistAssess:
  • Neurologic findings incl spasticity, dystonic posturing, sleep-related mvmts;
  • Response or lack of response to medications.
Oculomotor
involvement
Complete ophthalmologic examAssess best corrected visual acuity; nystagmus, saccades & smooth pursuit; vertical & horizontal gaze limitation; ptosis.
Musculoskeletal Orthopedics / physical medicine & rehab / PT/OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Mobility, self-help skills, activities of daily living, & need for adaptive devices
DD / Cognitive
impairment
Developmental behavioral pediatrician, neurologist, or geneticistChildren: To incl motor, adaptive, cognitive, & speech/language eval; eval for early intervention / special education
Clinical psychologistAdults: Assess for deficits in spatial working & episodic memory
Dysarthria Speech & language assessmentRelated to abnormal tongue & facial mvmts
Psychiatric
manifestations
  • Child psychiatrist
  • Clinical psychologist
Depression, psychosis w/delusions & auditory hallucinations, obsessive-compulsive symptoms, autistic-like behavior
Cardiac
involvement
EKG, echocardiogram, cardiology evalDilated cardiomyopathy may be a manifestation.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of ADCY5 dyskinesia in order to facilitate medical & personal decision making
Family support/
resources
Assess:
  • Use of community or online resources such as Parent to Parent;
  • Need for social work involvement for parental support;
  • Need for home nursing referral.
Disease severity may qualify some persons for disability &/or social security benefits.

DD = developmental delay; MOI= mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: ADCY5 Dyskinesia

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