Abstract
Aim: The purpose of this research was to collect caregiver-reported data on the burden of creatine transporter deficiency (CTD). Materials & methods: Following institutional review board approval, caregivers of individuals with CTD were recruited through advocacy networks and clinical sites. Interested caregivers were consented, screened and sent a survey link. The survey included questions about CTD diagnosis, management and characteristics. Results: Thirty-seven caregivers provided data for 40 patients with CTD. Results demonstrated delays in developmental milestones and deficits in speech, communication, and fine and gross motor skills. Patients saw on average six specialists before receiving a CTD diagnosis. Conclusion: The burden of CTD is substantial and there is a need for effective management and treatment.
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