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CHARGE association: clinical manifestations and developmental outcome
A S Harvey1, P M Leaper, A Bankier
1Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
American Journal of Medical Genetics
|April 1, 1991
Summary
CHARGE association survivors show improved outcomes in feeding, growth, and development. Early diagnosis and prompt management of sensory deficits are key for better prognosis in children with CHARGE syndrome.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- CHARGE association is characterized by mental retardation and growth failure in up to 90% of cases.
- Previous outcome studies for CHARGE syndrome have been limited by inclusion criteria.
- This study focuses on a cohort diagnosed in early infancy before developmental patterns were established.
Observation:
- Follow-up of 17 patients diagnosed with CHARGE association in early infancy.
- Of 7 survivors, all experienced motor delay and 6 had feeding difficulties in infancy.
- Psychometric assessment revealed varied developmental outcomes, with 2 in the normal range and others showing specific delays or intellectual disability.
Findings:
- Feeding problems resolved in most patients, persisting only in the youngest.
- Normal height was achieved in 4 of 5 children over age 3, despite initial failure to thrive.
- Developmental outcomes suggest a better prognosis than previously reported, particularly for feeding, growth, and cognitive development.
Implications:
- Infants with CHARGE association who survive early infancy may have a more favorable prognosis than anticipated.
- Prompt management of sensory deficits is crucial for improving developmental outcomes.
- This research refines expectations for CHARGE syndrome prognosis, emphasizing the importance of early intervention and individualized care.