Table 5.

SLC6A3-Related Dopamine Transporter Deficiency Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Movement disorder Neurologic assessment of the movement disorderAt each visit, every 6-12 mos
Orolingual dyskinesia
  • Dietitian/nutritionist assessment to ensure adequate caloric intake
  • Swallowing assessment to evaluate risk for aspiration
  • Speech-language assessment of communication needs
Ophthalmology Assessment for eye movement disorders & refractive error to maximize visual functionEvery 12 mos
Orthopedic
  • PT eval of postural issues & tone
  • Eval for early evidence of hip dislocation &/or spinal deformity
  • PT/OT eval to assess mobility, ADL, & need for adaptive devices
Every 6-12 mos
Pulmonary
  • Assess frequency of respiratory infections.
  • Assess for evidence of sleep disturbance due to movement disorder.
At each visit
Gastrointestinal Assess for vomiting, GERD, & constipation.At each visit
Neuropsychiatric Assessment for ADHDAt each visit in persons w/atypical later-onset SLC6A3-related DTDS

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; DTDS = dopamine transporter deficiency syndrome; GERD = gastroesophageal reflux disease; OT = occupational therapy; PT = physical therapy

From: SLC6A3-Related Dopamine Transporter Deficiency Syndrome

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