title: CHARGE Syndrome-a five case study of the syndrome characteristics and health care consumption during the first year in life.
abstract: CHARGE syndrome is characterized by impaired vision and hearing, as well as physical malformations. The aim of this study is to describe the characteristics of the malformations and the health care consumption during the first year, in a Swedish sample having CHARGE syndrome. Three of the five individuals fulfilled all the traditional criteria for a clinical diagnosis of CHARGE syndrome. All infants were hospitalized from 26 to 230 days, subjected to 10-34 different diagnostic procedures and prescribed 10-28 different medications during their first year. Coordinated and individually adapted care is urged, as these infants and their families are in of need multiple health care contacts.
authors.affiliation: Audiological Research Centre, Örebro University Hosptal, Örebro, Sweden; School of Health and Medical Sciences, Örebro University, Örebro, Sweden; The Swedish Institute for Disability Research (SIDR), Örebro University, Örebro, Sweden. Electronic address: agneta.anderzen-karlsson@orebroll.se.
authors.forename: Agneta
authors.initials: A
authors.lastname: Anderzén-Carlsson
mesh_terms: D058747:CHARGE Syndrome / Q000175:diagnosis / Q000191:economics* / Q000628:therapy*; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D017048:Health Care Costs; D006295:Health Resources / Q000191:economics; D006801:Humans; D007223:Infant; D008297:Male; D035583:Rare Diseases; D012189:Retrospective Studies; D012494:Sampling Studies; D012720:Severity of Illness Index; D013548:Sweden
keywords: CHARGE syndrome; Deafblindness; Health care consumption; Long-term conditions; Medical complexity; Nursing care