CHARGE Syndrome Foundation - About CHARGE - Medical Management Issues

CHARGE Syndrome Medical Management Issues

See the Management Manual for Parents for more information

Swallowing - the difficulty swallowing is due to cranial nerve abnormalities. It improves spontaneously, often within the first three years. It is important for 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 from 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 may be a major problem in childhood causing increased school absence. A few children have had resolution of this problem when food allergies have been identified and 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.

Detached retinas as a complication of colobomas 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. The cause is unknown and often does not respond to simple measures such as increased fluid.

DEVELOPMENT IN CHARGE SYNDROME:

The key to educational and social success is communication, communication, communication. The primary obstacles to establishing a formal communication system in CHARGE are:

Combined vision and hearing loss
Late referral to appropriate educational resources, often because of attention to serious medical problems
Lack of information about deafblindness among educational & medical professionals

Some children have brain malformations, but the majority of children have no abnormality on MRI. Even those with brain malformations are not necessarily mentally retarded.

The majority of children with CHARGE can be designated "deafblind" since they have combined vision and hearing loss. "Deafblind" does NOT mean total deafness or total blindness. It is an important label for getting educational resources in many states. It is important for families to understand that "deafblind" does not mean total hearing loss or total vision loss. Most children have some residual vision and/or hearing.

INPUT IMPAIRMENT and DEVELOPMENTAL DELAY:

Vision and hearing are the distance senses. If both vision and hearing are impaired, the individual does not know what is happening until the person or object comes within the "communication bubble" (how well and how far out an individual can see and hear)
Gross motor delay is often secondary to vestibular dysfunction and upper body hypotonia
Delayed language acquisition is often secondary to hearing impairment
Delayed reading and understanding the environmentis often secondary to visual impairment
Delayed social development due to being unable to "oversee" and "overhear" information as well as being unable to smell body odors if anosmia is present.

OUTPUT IMPAIRMENT

Bilateral facial palsy prevents a child with emergent communication skills from expressing emotions except through body movements. This lack of facial expression and/or direct eye contact can be very difficult for parents, peers, and teachers.

INTELLIGENCE & PSYCHOLOGICAL ASSESSMENT:

Previous reports that up to 100% (or even "most") children with CHARGE are mentally retarded are wrong. Though nearly all of these children are developmentally delayed, we do not know the true incidence of cognitive impairments because the appropriate educational programs are usually not available early in the lives of deafblind children.
Several adults with CHARGE (all self-diagnosed) are now known to be college graduates and one has three masters degrees.
Those with no vision impairment or no hearing impairment often have normal intelligence even as measured by standardized testing.
No standardized test exists for evaluating individuals with combined visual and hearing losses.
All psychological/IQ testing assesses "output" which infers mental processing and which, in turn, can only be accurate if input is accurate. The best evaluations of individuals with CHARGE are done by those few psychologists who understand deafblindness or those who are willing to work with both teachers of the deaf/hard of hearing and teachers of the blind/visually impaired. It is imperative to make sure the student understands the instructions and the psychologist knows which test elements may be outside the student's possible experience.
Some children with CHARGE do have specific learning disabilities

The typical 2 year old with CHARGE has spent many months in the hospital and had multiple surgeries. He or she is often not speaking, responding visually but usually misinterpreting information, is not yet walking and still having swallowing problems. By all standard measurements, such a child will be labeled developmentally delayed and frequently predicted to be mentally retarded. However, many of these children can catch up to grade level IF the appropriate educational services are in place. It is critical for the child to have an educational team that understands that deaf + blind does NOT equal deafblind any more than hot + dog equals hotdog. The techniques used by the deaf/hard of hearing teacher are primarily visual, whereas those used by the teacher of the blind/visually impaired are aimed at hearing supplemented with touch. Only rarely does either of these teachers understand the consequences of the other impairment, let alone what pedagogical techniques would be appropriate.

BEHAVIOR IN CHARGE "All children 'behave' and all behavior is communication." (T. Hartshorne, PhD, psychologist and parent of a child with CHARGE) Our job is to figure out what the child is trying to communicate, particularly if formal language is not yet established.

Autistic Behaviors have been described, but some may be the behavioral manifestations of delayed language and being unable to oversee and overhear the appropriate social interactions of others. Those deaf children who have central visual impairment will not appear to make eye contact because they cannot see the other person's eyes if their face is turned directly at them. If people are outside their communication bubble, the children will occupy themselves with whatever is within their bubble, either objects or themselves (see Moss, below)

Obsessive-Compulsive Disorder (OCD) has also been described. This may be a misinterpretation if the child is visually impaired and needs order in the environment in order to move about safely. However, these many children with CHARGE are described as stubborn and single-minded, often perseverating on a topic. Teens and adults have been observed to have OCD behaviors as well. OCD may be a true manifestation of CHARGE in some individuals.

Attention Deficit Hyperactivity Disorder (ADHD) is as common in children with CHARGE as in other children. Treatment is often a challenge.

High Pain Threshold seems to be very common in children with CHARGE. Such children may not appreciate the pain they inflict on others because they do not experience it themselves and may not be able to see or hear the reaction of others (communication bubble).

Social Immaturity is a major concern of parents. These children have difficulty making and maintaining friendships. Though social isolation is typical of all people who are deafblind, those children with CHARGE appear to need very direct social interaction.

ADDITIONAL RESOURCES:

Texas School for the Blind and Visually Impaired - See especially: "Looking at Self-Stimulation in the Pursuit of Leisure or I'm Okay, You Have a Mannerism," by Kate Moss.

Psychological Evaluation of Children who are Deaf-Blind: An Overview with Recommendations for Practice, by Harvey Mar, PhD.

DB-Link: National information clearinghouse on children who are Deaf-Blind - Bibliography and links to state resources

Care Notebook: to help organize medical records and doctor appointments, etc.

Care Organizing Tools
The Care Notebook and Care Organizer are tools for families who have children with special health care needs. Families use Care Notebooks to keep track of important information about their child's health and care. This makes it easier to find and share key information with their child's care team.

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