by Kate Moss, Family Training Specialist, TSBVI Deafblind Outreach
based on information from CHARGE Syndrome: A Booklet for Families
A \"syndrome\" is described as a recognizable pattern of birth defects. One of the more complex syndromes that can result in both vision and hearing loss is CHARGE Syndrome. Children diagnosed with CHARGE most commonly have:
- Coloboma of the eye (a cleft or keyhole-shaped defect occurring in one or more areas of the eye including the iris, retina, or disc)
- Heart defect
- Atresia of the choanae (closure of the passages from the back of the nose to the throat which allow breathing through the nose)
- Retardation of growth and/or development
- Genital Hypoplasia (this can include in boys a small penis, undescended testicles, no urethral opening at the end of the penis and in girls in can include a small or absent labia)
- Ear malformations
- The name \"CHARGE\" comes from the first letter of each of these defects or anomalies. Children with CHARGE may have additional problems. Some of these problems include:
- Facial paralysis or palsy
- Central Nervous System disorders which may include microcephaly, seizures, apnea, and central processing problems including a central hearing loss.
- Pituitary abnormalities
- Swallowing difficulties
- Urinary tract malformations such as abnormal kidney shape or location, backup of urine from the bladder into the kidney (reflux), posterior urethral valves.
- Cleft lip and/or palate
- DeGeorge sequence (congenital absence of the thymos and parathroid glands)
- CHARGE facial features (square shape of the face and head, flat cheekbones, facial asymmetry, wide nose with a high bridge, and unusual ears)
- Omphalocele (failure of the abdominal wall to close properly around the umbilical cord, intestines may be outside of the body)
- Tracheo-esophageal fistula (an abnormal connection between the trachea or wind pipe and the esophagus or food pipe)
- Esophageal atresia (the esophagus or food pipe ends in a pouch instead of connecting to the stomach)
There is no laboratory test that can diagnose CHARGE Syndrome. Usually the diagnosis is made because of the presence of a number of these typically unrelated anomalies. Because of this, the diagnosis is usually made by a team of specialists, based on the specific combination of features seen in the child. These features vary greatly from one child to another. For this reason, a diagnosis of CHARGE Syndrome may be a long time coming.
The cause of CHARGE is not known. It is not known to be related to illness, exposure to drugs or alcohol during pregnancy, and typically it does not occur to more than one person in a family. It is very rare, and cannot be predicted. It is important however, to discuss risks for passing CHARGE Syndrome to future generations with a trained geneticist.
Children with CHARGE require a great deal of medical management. There are often numerous surgeries to repair heart defects, choanal atresia, the gastrointestinal tract, the esophagus, cleft lip or palate, etc. Although many of these procedures are done when the child is a newborn, some of the less life-threatening problems may not appear until later or may have to wait until later in the life of the child to be addressed.
This results in a very difficult time for the child and the family emotionally, physically, and financially. It is easy to neglect to give time or energy to a spouse (or other children) when such incredible demands are being made of the parents. These families have great need for support in finding medical resources, financial resources, and respite resources. Often times the hospital social worker can help families in locating these resources locally. However, it is also a good idea to contact the CHARGE Syndrome Foundation to help the family learn more about the specific condition and what other families have done in similar situations. The address for this organization follows:
2004 Parkade Boulevard
Columbia, MO 65202-3121
families call- (800) 442-7604
professionals call - (573) 499-4694
This organization provides a newsletter, informational materials, parent-to-parent networking and match-up, referrals to local resources, national conference, and a research registry. There are also local chapters of this organization around the country. In the near future there will also be a listserv for this organization.
Once the major medical problems are addressed there are still ongoing issues related to problems with growth, sexual maturation, intelligence, vision, hearing, speech and language development, and general health. Again, not every child will have all of these anomalies present, but it is good to be aware of some of the issues since some of the problems develop later in the child.
Children with CHARGE Syndrome are often sickly, especially in the early years. They frequently experience colds that turn into pneumonia. Even conditions that would be minor in most children may become serious conditions for them.
Though many of these children have normal intelligence, some children with CHARGE may have mental retardation which can range from mild to severe. However, the level of the child's intelligence may be difficult to assess if there is vision and/or hearing loss. This is why it is essential that children with CHARGE have their vision and hearing evaluated.
Some children with CHARGE have problems with visual acuity (either near- or far-sighted) which usually can be corrected with glasses. However, some of these children may also have field losses which can cause problems for them in reading, travel, reading sign language or doing other visual tasks. A good ophthalmologist can help advise the family on corrective measures. A teacher of the visually impaired can help in making recommendations for educational modifications and strategies.
If the child has a suspected hearing problem the otolaryngologist and audiologist can evaluate the child to determine if there are surgical procedures and/or assistive listening devices that can be considered. Since these children often suffer from chronic otitis media (fluid in the middle ear), they need to be monitored on a regular basis. Additionally, the teacher of the deaf and hearing impaired will be able to assist in making recommendations for educational modifications and strategies. A speech pathologist is also likely to be involved in helping the child with speech issues.
Children with CHARGE Syndrome are very different one from another. The combination of defects they experience and the impact of the combination of defects vary greatly. What these children have in common is the need to have a thorough evaluation of all the conditions they manifest and a team approach in both the medical and educational arenas that provides for the child's individual needs. The families of these children must be a part of these teams, and they must have support in addressing the unique needs of their child.
I encourage parents of children with CHARGE Syndrome to contact the CHARGE Syndrome Foundation. Your local school district staff, Regional Education Service Center staff, Texas Department of Assistive and Rehabilitative Services (formerly known as Texas Commision for the Blind) caseworker, or TSBVI Outreach staff can also be very helpful to you.