by Sara Gaar, project director, DSI
What Is CHARGE?
CHARGE is quickly becoming one of the major causes of deafblindness or dual
sensory impairments. It now ranks within the top five causes (NTAC National
Census, 2000) and accounts for about 4% of the nation’s infant and school
age, deafblind population. As awareness increases concerning this complex condition,
it is likely the numbers diagnosed with it will also continue to increase.
CHARGE was first identified in 1979. In 1981 six diagnostic features were used
to compose the acronym:
C is for coloboma, which is an eye disorder effecting the retina
and/or optic nerve. About 80% of individuals with CHARGE have a coloboma.
Another C has been added to this acronym indicating cranial nerve abnormalities.
Many individuals with CHARGE have facial palsy and/or swallowing difficulties.
H is for heart defects. At least two-thirds of individuals
with CHARGE have heart problems and many require treatment or surgery.
A is for atresia of the choanae, which results in a blockage
or narrowing of the nasal passage. This may require surgery.
R is for retarded growth and development, not to be confused
with mental retardation. Although most individuals with CHARGE present significant
development delays, there are also those who have normal intelligence.
G is for genital anomalies, typically affecting the external
genitalia.
E is for ear anomalies including abnormally shaped external
ears. The middle and inner ear may also be affected. At least 85% of individuals
with CHARGE have hearing losses, ranging from mild to profound.
Since CHARGE was initially identified, its criteria has also expanded. Over
40 additional conditions have been associated with this involved syndrome. To
date there is no known “test” for CHARGE, nor is the cause known.
The current diagnosis is based on a configuration of major and minor criteria
conditions. For a diagnosis of CHARGE, an individual needs to meet all four
of the major criteria, or any three major criteria and three minor. The major
and minor criteria include:
Major Criteria
Coloboma
Choanal atresia
Characteristic CHARGE ear
Cranial nerve dysfunction
Minor Criteria
Genital hypoplasia
Developmental delay
Heart defect
Short stature
Orofacial clefting
Tracheo-esophageal fistula
Characteristic CHARGE Face
It is not the degree or severity of these conditions that determines whether
an individual has CHARGE, as this can vary greatly. Instead it is the pattern
of the major and minor criteria which identifies this syndrome.
Why Be Aware of This Syndrome?
To date, there is no child with CHARGE on the Alaska Dual Sensory Impairment
(DSI) census. Although not every child with CHARGE has a vision and hearing
loss, about 80-85% do and would qualify for DSI Services. One of the outcomes
in identifying a child with CHARGE is professionals and family members learning
how to promote the child’s continued growth and development. This includes
program planning strategies as well as becoming aware of additional red flags
for medical problems, such as vision, hearing, heart, digestion, motor, etc.
Are we missing children with CHARGE in Alaska? Are they not being identified
with CHARGE but just considered another child with multiple impairments and
complex medical needs? Are service providers and families not aware of DSI Services
and that the combined vision and hearing loss typically found in children with
CHARGE would qualify for services, at no cost? I don’t have answers for
any of these questions but I would invite your input.
For information regarding CHARGE, contact:
CHARGE Syndrome Foundation, Inc.
573-499-4694
800-442-7604 (families only)
e-mail: marion@chargesyndrome.org
http://www.chargesyndrome.org
For information regarding Alaska Dual Sensory Impairment (DSI) Services, contact
:
Sara Gaar
Project Director
Alaska DSI Services
907-562-7372
e-mail: sgaar@sesa.org
http://www.sesa.org
References:
Brown, D. (2002). CHARGE Syndrome. Presented at California Coming Together Conference.
San Diego, CA.
Hefner, M., Thelin, J., Davenport, S., Mitchell, J. (1988).
CHARGE Syndrome: A Booklet for Families. University of Missouri Hospital and
Clinics. Columbia, MO.
The CHARGE Syndrome Foundation Inc. (2001). CHARGE Syndrome. [Brochure]. Columbia,
MO.
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