title: The challenge of providing continuity in the care of a disabled child: Smith-Lemli-Opitz syndrome.
abstract: The health of a disabled child can be adversely affected if parents and health care providers are not informed regarding the need for ongoing care and consultation. This case illustrates the ways in which failure to obtain appropriate consultation and breakdown in communication between parents, health care providers, and community agencies negatively impacted the health of a young child with Smith-Lemli-Opitz Syndrome (SLOS). Although the disorder was detected in the child, information regarding treatment was not communicated to those caring for the child, resulting in serious and potentially life-threatening consequences. In this case study, we review the pathophysiology of SLOS, the positive impact of making use of expert consultation, and the complexities of navigating multiple systems when advocating for a child with a serious developmental disorder. The role of nursing in facilitating collaboration among families, members of the health care team, and advocacy agencies, particularly in children with complex medical and psychiatric difficulties, is highlighted.
authors.affiliation: Yale Child Study Center, New Haven, Connecticut 06520, USA. kathy.koenig@yale.edu
authors.forename: Kathleen
authors.initials: K
authors.lastname: Koenig
authors.forename: Lawrence
authors.initials: L
authors.lastname: Scahill
authors.forename: Barbara
authors.initials: B
authors.lastname: Teague
mesh_terms: D002648:Child; D003142:Communication; D003266:Continuity of Patient Care / Q000458:organization & administration*; D003299:Cooperative Behavior; D019988:Children with Disabilities / Q000523:psychology / Q000534:rehabilitation*; D005190:Family / Q000523:psychology; D006801:Humans; D007400:Interprofessional Relations; D008297:Male; D020380:Needs Assessment; D024802:Nurse's Role; D010344:Patient Advocacy; D010348:Patient Care Team / Q000458:organization & administration*; D010371:Pediatric Nursing / Q000379:methods; D011368:Professional-Family Relations; D011568:Psychiatric Nursing / Q000379:methods; D019082:Smith-Lemli-Opitz Syndrome / Q000523:psychology / Q000628:therapy*; D012944:Social Support