Handbook of Genetic Counseling/CHARGE Association

CHARGE Association

Contracting

Having to learn a lot in a short amount of time
Support system? The difficulty of raising three kids on your own with one having medical dependence.
Coping strategies
- Does she have a home care nurse?
- Has she used respite care, does she know about it?

A specific set of birth defects that are found in a single child. The letters of CHARGE represent the different anomalies that are found.
C- coloboma in 80-90% (a keyhole shaped cleft in the pupil, iris, or disc)
C- cranial nerve anomalies
CN I - olfactory 40%
CN II - optic
CN VII - facial palsy 40% (usually one sided)
CN VIII - sensorineural hearing loss
CN IX, X - swallowing difficulties
H- heart defect in 70-85% (usually a VSD, PDA, Tetralogy of Fallot, or DORV - double outlet right ventricle)
A - atresia choanae 50-60% (blockage or narrowing of the passageway that connects the nose to the throat and allows a person to breathe through their nose. Extremely dangerous because newborns are obligate nose breathers until 4-6 weeks old.)
R - retardation of growth 80-90%
G - genitourinary anomalies in 70-80% of males (small penis, hypospadias, undescended testicles)
E - ear anomalies/deafness (80-85% have sensorineural hearing loss)

Feeding problems are common/swallowing difficulties
Developmental delay in 100%
Mental retardation from mild - profound in 80-95%
Visual impairment
Cleft palate in 20-30%
Tracheomalcia and laryngomalcia
Characteristic facial features in >50% (square face, large eyes, small nostrils, small mouth, facial asymmetry with or without paralysis)
Usually there is not growth retardation parentally. Typically babies are born with an average weight and then linear growth starts to shift below the third percentile by 6 months of age.

This is unknown, but suspected to be heterogeneous. Also, it seems that it may be a result of arrested development between days 35-45 after conception. This is based on the developmental pattern of each of the birth defects related to CHARGE.
Additionally, it seems that the involvement of cranial nerves IX and X cause the majority of the neurologic function of swallowing resulting in gastroesophageal reflex and aspiration pneumonia.

Recurrence of an affected sibling with two unaffected parents = 1-2%
Recurrence to an affected person is expected to be slightly increased. Until a specific gene change is determined, it is difficult to predict the recurrence risk to an affected individual. However it would not be greater than 50%.

There is a lower life expectancy in children with CHARGE syndrome because of the high risk for hospitalization and the severe involvements. The highest mortality is in the first three years of life. Studies have shown a 70% survival rate to 5 years.

The only way to diagnose CHARGE syndrome prenatally is through a Level II ultrasound looking at some specifics:
Polyhydramnios
Cardiac involvement
Genitalia
Cleft lip/palate

2004 Parkade Boulevard

Columbia, MO 65202-3121

Phone: (800) 442-7604 or (573) 499-4694

Contact: Marion Norbury

CHARGE Syndrome: A management manual for parents. Hefner, M & Davenport, SLH. CHARGE Syndrome Foundation, Inc. 1999.

Charge diagnostic criteria:
CHARGE Syndrome: A management manual for parents. Hefner, M & Davenport, SLH. CHARGE Syndrome Foundation, Inc. 1999.
Jones, KL. Smith's Recognizable Patterns of Human Malformation 5th Ed. 1997.

The information in this outline was last updated in 2000.

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