ABSTRACT
This chapter provides an overview of the issues to support the primary care physician in delivering optimal care. Patient satisfaction at the time of diagnosis is felt to be related to both the attitudes and the knowledge of the clinician. The chapter deals with a discussion of these factors in order to effectively support the family, not only at the time of diagnosis, but throughout the lifespan. Medical problems of individuals with mosaic Down Syndrome (DS) have been found to occur in the same frequency as in children with trisomy 21. It is necessary to obtain a karyotype of both parents of children with translocation DS to determine the type of chromosome translocation, if present, which impacts on the recurrence risk. Vigorous assessment of hearing and diligent treatment of the conductive hearing loss associated with serous otitis media via medical and surgical means can result in optimal hearing levels and minimize the impact on speech language development.
