This book promotes preventive management for children with genetic and developmental disorders as an extension of general preventive care. The central rationale is that accessible reminders of disease complications will facilitate preventive care for affected children, empowering the general physician to give usual and unusual children the benefits of their expertise. In Chapter 2, necessary accommodation to the extra time and planning required by children with disabilities is summarized under the term “Chronic Condition Management (CCM). ” In this chapter, CCM is facilitated by presenting two types of preventive medical checklists: a general checklist for children with disabilities and, for more common disorders, disease-specific checklists based on well-defined natural histories and complications.
The extension of regular pediatric care to the special-needs child is first discussed, with formulation of a general preventive medical checklist for children with disabilities (see checklist at end of Preface). This general checklist can be used for rarer causes of disabilities by transferring their tabulated complications to the appropriate spaces on the checklist form. Specific preventive checklists for more common disorders are then discussed, with their standard format of a summary page, two-page checklist for age-specific measures, and parent information page. An overview of preventive measures used for special conditions is presented, providing a summary that ratifies recommendations on the general preventive checklist.
The remaining portions of this chapter provide background on the formulation of preventive guidelines. They discuss general goals of preventive medicine, challenges in providing and assessing preventive care, and an approach for justifying preventive guidelines for rare diseases with little outcome data.