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Frequently Asked Questions > FAQ's about 1p36 Deletion Syndrome > What are the health care guidelines for children with 1p36 Deletion Syndrome?

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Because 1p36 Deletion Syndrome is a recently recognized condition, there are no standardized health care guidelines available. Recommendations, however, often include the following:

  • An echocardiogram (ultrasound) of the heart to determine if there is a heart defect or cardiomyopathy
  • An eye exam to determine if there are any vision or eye problems
  • A complete hearing test (including high frequencies) to detect hearing problems, many times for young children this is in the form of an ABR (Auditory Brainstem Response) test
  • A CT scan or MRI of the brain to rule our brain malformations
  • Evaluation of feeding and growth as a newborn, and at regular intervals during childhood
  • Developmental assessments with speech, physical and occupational therapists
  • Blood tests for thyroid dysfunction at birth and six months of age, and then annually