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CHARGE association in Sweden: malformations and functional deficits
Kerstin Strömland1, Lotta Sjögreen, Maria Johansson
1Department of Ophthalmology, Sahlgrenska University Hospital, Göteborg, Sweden. kerstin.stromland@vgregion.se
American Journal of Medical Genetics. Part A
|January 6, 2005
Summary
CHARGE association (CA) is a genetic disorder affecting multiple body systems. This study highlights frequent physical abnormalities, sensory impairments, and developmental delays in Swedish patients, emphasizing early pregnancy as a critical maldevelopment period.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- CHARGE association (CA) is a complex genetic disorder characterized by a specific set of malformations.
- Understanding the full spectrum of CA and its etiology is crucial for patient management.
Purpose of the Study:
- To describe associated malformations and functional deficits in Swedish patients with CA.
- To investigate potential etiological factors and critical developmental time periods.
- To emphasize the need for a multidisciplinary approach in managing CA.
Main Methods:
- Prospective multidisciplinary study of 31 Swedish patients with CA.
- Analysis of clinical files and maternal questionnaires on prenatal events.
- Comprehensive clinical evaluations of systemic, sensory, and neuro-psychiatric functions.
Main Results:
- High prevalence of ear (90%) and eye (90%) anomalies, brain (61%) and heart (52%) defects, growth retardation (48%), genital (38%), and choanal (35%) issues.
- Significant visual impairment (61%) and hearing loss (74%) were common.
- Developmental delay (82%), autism (40%), and functional deficits in balance, speech, and eating were prevalent.
- Malformations likely occurred early in pregnancy (weeks 4-6).
Conclusions:
- CHARGE association presents with a wide range of physical and functional impairments.
- Early pregnancy (weeks 4-6) is a critical period for maldevelopment in CA.
- Multidisciplinary assessment and management are essential for individuals with CHARGE association.