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CHARGE association: an update and review for the primary pediatrician
K D Blake1, S L Davenport, B D Hall
1Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Insights
CHARGE association, a rare congenital anomaly affecting 1:10,000 births, is increasingly diagnosed due to better awareness and care. This review details diagnostic criteria, management strategies, and the condition's pathogenetic basis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- CHARGE association is a nonrandom pattern of congenital anomalies occurring together more frequently than by chance.
- Estimated prevalence is 1:10,000 live births, with increasing diagnoses due to improved awareness and care.
- This condition presents complex challenges for chronically ill children, impacting survival and outcomes.
Purpose of the Study:
- To present diagnostic criteria for CHARGE association, aiming for a concise, recognizable syndrome with a unified pathogenetic basis.
- To summarize current understanding of managing this complex, chronic multiple congenital anomaly condition.
- To discuss the underlying pathogenetic basis of CHARGE association.
Main Methods:
- Literature review of CHARGE association.
- Analysis of diagnostic criteria and management strategies.
- Synthesis of current knowledge on pathogenetic mechanisms.
Main Results:
- Proposed diagnostic criteria for a more defined CHARGE association syndrome.
- Overview of current best practices for managing complex cases.
- Discussion of the etiological factors contributing to the condition.
Conclusions:
- Refined diagnostic criteria may lead to a more consistent understanding of CHARGE association.
- Effective management requires a multidisciplinary approach tailored to complex needs.
- Further research into the pathogenetic basis is crucial for improved diagnostics and therapeutics.
Abstract:
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of CHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.