TY - JOUR
T1 - Developing a CHARGE syndrome checklist
T2 - Health supervision across the lifespan (from head to toe)
AU - Trider, Carrie Lee
AU - Arra-Robar, Angela
AU - van Ravenswaaij-Arts, Conny
AU - Blake, Kim
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/3/1
Y1 - 2017/3/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.38085
DO - 10.1002/ajmg.a.38085
M3 - Article
C2 - 28160409
AN - SCOPUS:85011961335
SN - 1552-4825
VL - 173
SP - 684
EP - 691
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -