A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder (CRD)

Rebecca Levy, MD, PhD, Instructor, Child Neurology and Neurogenomics, Lucile Packard Children’s Hospital at Stanford University

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Understanding what strengths and challenges may happen for a disorder can help families and their medical providers plan, screen, and treat individuals more effectively.

We were honoured to collaborate with TSA as well as families and individuals with CRD around the world to learn whether they experienced issues in development, as well as symptoms involving mood, learning, and the nervous system.

Many individuals with CRD had delays in learning to walk and talk, as well as other developmental milestones. They also commonly reported neuropsychiatric symptoms such as imbalance, incoordination, difficulty with chewing, learning or cognitive disability, seizures, and symptoms associated with autism spectrum disorder.

Whether or not an individual had long QT syndrome did not affect the risk of developmental or neuropsychiatric symptoms, so in CRD this risk may be related to brain-specific and not heart-related impacts of the CACNA1C gene.

We are continuing to recruit for this cohort, please contact TSA for more information.

View the published paper.

If you are unable to access this paper due to the paywall, view the non-peer-reviewed version of this work.