Developing a CHARGE Syndrome Checklist: Health Supervision Across the Lifespan (From Head to Toe)

Carrie-Lee Trider, Angela Arra-Robar, Conny Ravenswaaij-Arts, van, Kim Blake*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Scopus)

Abstract

Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome. These are the first comprehensive guidelines across the lifespan of CHARGE syndrome that suggest a consistent approach to medical surveillance, investigations, and management for the physician and the multi-disciplinary team caring for these individuals. We anticipate that these guidelines will provide improvements in care by preventing missed diagnoses, allowing for anticipatory counseling, and facilitating early referral for interventions and treatments. (C) 2017 Wiley Periodicals, Inc.

Original languageEnglish
Pages (from-to)684-691
Number of pages8
JournalAmerican Journal of Medical Genetics. Part A
Volume173
Issue number3
DOIs
Publication statusPublished - Mar-2017

Keywords

  • CHARGE syndrome
  • checklist
  • guidelines
  • health supervision
  • management
  • CHD7 MUTATION
  • RISK-FACTORS
  • CHILDREN
  • GENE
  • DIFFICULTIES
  • ASSOCIATION
  • ADOLESCENTS
  • BEHAVIORS
  • GROWTH
  • UPDATE

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