Andermann syndrome


What are the first steps after an initial diagnosis of Andermann Syndrome?

After an initial diagnosis of Andermann syndrome, individuals are sent to a multi-disciplinary team made up of a medical geneticist, pediatrician or pediatric neurologist, an orthopedist, a physiotherapist, and an occupational therapist. Evaluations will be done routinely over time, and include a developmental assessment, physical therapy, and team consultation. The developmental assessment determines the baseline of where the child is at in terms of intellectual and developmental milestones and to determine the presence of delays, and monitors progress. The physical therapy assessment determines weakness and presence of contractures, and identifies treatments. The team will routinely monitor for other symptoms involving the face, such as eye problems, curvature of the spine, and psychiatric disturbances.

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