The typical child with CHARGE syndrome is followed by an average of 17 different medical specialists and will have more than a dozen surgical procedures before he or she is 10 years old. Ideally, individuals with CHARGE would have a care coordinator to help coordinate and manage medical care. If this is available, take advantage of it. In reality, it is a parent (most often the mother) who takes on this role.
Below is a list of some of the medical issues that are often overlooked when physicians are concentrating on the more obvious medical issues. Specific medical and developmental issues are covered in sections of the Management Manual for Parents.
POSSIBLE BREATHING AND ANESTHESIA ISSUES IN CHARGE
– Poor coordination of suck and swallow is common: there is a big risk of aspiration when anything is given by mouth
– Weak tracheal cartilage is common: trachea may collapse easily
– Many individuals have complications with anesthesia, especially difficulty with breathing when coming out of anesthesia
Swallowing difficulty is due to cranial nerve abnormalities. Swallowing often improves spontaneously within the first three years. It is important for a feeding team to understand the likely underlying neurologic basis even if cleft palate or choanal atresia is present. Until they are able to swallow their own saliva, the children are described as being very “goopy.” After swallowing improves, children and even some adults avoid certain foods or textures.
Gastroesophageal reflux occurs frequently and may continue for years. Surgery (Nissen fundoplication) and/or medications sometimes help.
Airway can be compromised due to choanal atresia, TE fistula, aspiration pneumonias, and/or floppy tracheal cartilage (an issue for anesthesia).
When Chronic Recurrent Otitis Media (fluid in the ears, ear infections) is presumed to be the cause of conductive hearing loss, ossicular malformations (middle ear bone abnormalities) are often overlooked. MRI of the middle and inner ears is recommended.
Sinusitis can be a major problem in childhood and a cause of increased school absence. A few children have had resolution of this problem when food allergies have been identified and an appropriate diet instituted.
Hearing aids frequently do not stay on because of floppy ear cartilage or because the tape used to attach the aid to the scalp gets wet from saliva. Cochlear implants have been successful even in the presence of cochlear abnormalities. Also, depending on the type of loss, bone anchored hearing aids (BAHA) may be a successful alternative. BAHAs can be worn via a headband prior to surgical implantation.
Detached retinas as a complication of coloboma can result in total blindness. Any change in vision status should be treated as a medical emergency.
Short stature may result from illness, heart disease, and decreased caloric intake but growth hormone deficiency should be ruled out. Endocrine evaluation is appropriate for this (by age three) as well as for hormone replacement at puberty.
Scoliosis is frequent and appears to be neuromuscular in origin. Hippotherapy (horseback riding) is often helpful.
Sleep cycles are frequently disturbed, even in those without significant visual impairments. The cause is unknown.
Chronic constipation is becoming recognized as a frequent problem that often does not respond to simple measures such as increased fluid. The cause is unknown.