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by Kate Moss, Family Training Specialist, TSBVI Outreach
Usher Syndrome is one disorder that comes to mind readily for professionals in both the field of vision and hearing when they think of syndromes which result in dual sensory impairment or deaf-blindness. However, there are many syndromes that have both vision and hearing impairment as part of the conditions that define the syndrome. It is important to be aware of these conditions, since one of the sensory disabilities is often times more evident than the other. This situation makes it easy to overlook the impact of the combined vision and hearing loss.
Below some of the more common syndromes, which can manifest with both vision and hearing loss, are described. If you are interested in obtaining more detailed information about any of these conditions, you may contact:
National Organization for Rare Disorders
P.O. Box 8923
New Fairfield, CT 06812-1783
Most of the information about these syndromes comes from reports provided by NORD. The exception is the information on Congenital Rubella Syndrome which comes from a booklet, "Congenital Rubella Syndrome: Health Care Challenges" written by Dr. Steven Parker from Boston University School of Medicine in collaboration with Perkins School for the Blind, Helen Keller National Center and St. Luke's-Roosevelt Hospital. This publication is available through Perkins School for the Blind.
Alport Syndrome is a group of hereditary kidney disorders. They are characterized by progressive deterioration of the glomerular basement membranes which are microscopic parts of the kidney. This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure may develop. Ureamia and kidney failure may cause heart and bone problems.
Abnormalities of the eye may occur in the juvenile forms of Alport Syndrome. The surface of the eye's lens may be cone-shaped (lenticonus) or spherical (spherophakia). The lens of the eye may be opaque or cloudy (cataracts). White dots may appear on the retina (retinal macular flecks or fundus albipunctatis). Children with Alport syndrome may be nearsighted (myopic).
Type I, Type II and Type VI Alport Syndrome includes kidney disease with nerve deafness and eye abnormalities. The difference between these two types is that Type I is a dominantly inherited juvenile form and Type II is an X-linked dominant juvenile form. Type VI is the autosomal dominant juvenile form.
Cytomegalovirus Infection is a virus infection occurring congenitally, postnatally or at any age. CMV ranges in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and (in newborns) severe brain damage, and stillbirth or perinatal death.
Symptoms of CMV are also highly variable as well. The infection may be manifested only by CMV in the urine in an otherwise healthy infant. At the other end of the extreme, hemorrhaging, anemia, or extensive liver or central nervous system damage may occur. Infants born with a severe form of the disease typically have a low birth weight and develop fever, hepatitis with jaundice, and hemorrhages into the skin, mucous membranes, internal organs, and other tissues. Enlargement of the liver and spleen, decrease in number of blood platelets, inflammation of the choroid and retina, abnormal smallness of the head, and calcification around the veins of the cerebral portion of the brain may occur. Motor defects, spastic paralysis on both sides of the body, blindness, deafness or seizures may develop.
Vision loss in these children is related to scaring of the choroid (the dark brown vascular coat of the eye between the sclera and retina). Hearing loss in these children is sensorineural. Even though CMV infection may not be apparent in some infants, it may later cause hearing loss.
CHARGE Association is a very rare disorder characterized by a variety of symptoms. At least four of the following six characteristics must be present for the diagnosis of CHARGE Association: 1) Absence of some eye tissue, including the iris (Coloboma); 2) Heart disease; 3) Absence of the opening between the nasal cavity and the back of the throat (Atresia of the choanae); 4) Retarded growth and development and central nervous system abnormalities; 5) underdevelopment of the Genitals; 6) Ear abnormalities and hearing loss. The six letters of each of these conditions make up the name CHARGE.
Down syndrome is the most common and readily identifiable genetic condition associated with mental retardation. It is caused by a chromosomal abnormality. One additional chromosome is present in each cell. This extra gene material changes the development of body and brain.
About half of these children have congenital heart disease. There is an increased incidence of respiratory problems. Recent studies have shown that there are more eye and ear problems in individuals with Down Syndrome. Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris). These individuals may have either sensorineural, conductive or mixed types of hearing loss.
Individuals with Marshall Syndrome have a distinct flat sunken midface with a flattened nasal bridge or "saddle nose". Their nostrils turn upward, there is a wide space between the eyes, and the upper portion of the skull is thicker than normal. Calcium deposits may also be found in the skull. Eye defects found in these individuals include nearsightedness, cataracts, and eyeballs that appear to be larger than normal because of the wide space between the eyes. Some people with this syndrome may also have crossed eyes, a condition in which the line of vision is higher in one eye than the other called hypertropia, retinal detachment, or glaucoma. Hearing loss may be slight or severe and is sensorineural.
If a pregnant woman contracts rubella, the virus can infect her fetus. Such an infection is especially dangerous in the first 4 months of pregnancy, causing damage to the developing organs. Although any part of the body can be affected, the eyes and ears seem to be especially susceptible to damage from a rubella infection.
Babies born with Congenital Rubella Syndrome vary greatly from one another. Some are only mildly affected while others have significant disabilities. Some of the problems associated with CRS include sensorineural hearing loss, visual problems such as cataract, inflammation of the retina (retinopathy), nystagmus, small eyes (microphthalmia), and occasionally optic atrophy, corneal haze, and glaucoma. These individuals may also experience hearing problems, neurological problems, growth problems, and other disabling conditions. In later life some individuals also experience glaucoma and detached retina.
Stickler syndrome is a genetic disorder inherited as a dominant trait. Initial symptoms of Stickler Syndrome may include a broad, flat, sunken bridge of the nose which makes the face look flattened. A cleft palate and small jaw may also be present. In addition, sensorineural deafness may develop. Eye defects may include a high degree of nearsightedness (myopia), irregularities of the lens (astigmatism), and changes of the optic disk. Cataracts, detachment of the retina and blindness may develop during the first decade of life. A form of glaucoma called glaucoma simplex may also occur.
Bone abnormalities in joints such as the ankles, knees and wrists usually occur. During childhood, individuals may experience stiffness and soreness after strenuous exercise. Swelling, redness and a feeling of heat may occur occasionally, leading to cracking and temporary locking of the joints. Incomplete dislocation of the hips is another frequent occurrence.
There are many other syndromes and conditions that are associated to some degree with combined vision and hearing loss. Some of these include:
Of course, vision and hearing loss may occur in children with any type of syndrome or condition in the same way that vision and hearing loss occur in the non-disabled population. However, in syndromes and conditions known to have related vision and hearing loss, we must be certain to provide ongoing, periodic assessment and monitoring of vision and hearing function.
Obviously syndromes which have associated vision and hearing impairment can require a great deal of specific modifications to classroom instruction. Understanding the exact visual and auditory functioning of a child in the classroom and home environment can help us to provide these modifications. For example, with Usher Syndrome Type II the child may require the use of an auditory trainer. The child with Type I Usher will probably need a sign language interpreter, may need to be positioned at a specific distance from another signer, and/or may need instruction in the use of tactual signing.
Other conditions associated with a syndrome may direct the focus of instruction. For example, children with CHARGE Association may not have the physical ability to control urinary function until they are older. Trying to potty train a child with this condition at an age of 2 or 3 will likely prove frustrating to both the child and the caregivers. Knowing this, potty training may not be a priority for instruction in the early years of the child's life. Further, the classroom teacher may need the support of a paraprofessional during regular bathroom times in order to change the child's diapers. Consideration may also need to be given to providing a private space for the child during this activity that would not ordinarily exist in the classroom.
Some career's require good vision or hearing such as an airline pilot, an architect, or a truck driver. Many jobs can be modified or special technology can make jobs accessible even to individuals without vision or hearing. Sometimes specific jobs in a field may be accessible to an individual with disabilities while other jobs in that field are not accessible. The more information the student, his family, and career counselors have about a typical pattern of progression associated with a particular syndrome, the better prepared they are to make good decisions about future career choices and current programming.
Many syndromes such as Congenital Rubella Syndrome have a delayed onset of symptoms associated with them. For example, an individual with CRS is at higher risk for developing glaucoma and diabetes. They are also at risk for having detached retinas. Knowing this, regular eye examinations and medical examinations may help to detect these problems early on so the individual may receive proper medical treatment.
Sticklers syndrome often has hip dislocations associated with it. Knowing this, there may be a need to restrict some physical activities which may put the individual at risk. Other syndromes such as Cornelia de Lange may have gastrointestinal problems associated with them which may require special diets or medicines to prevent more serious conditions from developing.
Whatever the condition or syndrome is which results in long-term disabilities, the more we know about it the better off we are in helping the child. It is sometimes difficult to get a clear diagnosis of specific syndromes, but genetic testing and counseling can be very helpful. Your pediatrician or hospital may be able to refer you to a genetic counselor. Other resources to find out more about genetic testing are:
National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, PA 19086-6617
Alliance of Genetic Support Groups
35 Wisconsin Circle #440
Chevy Chase, MD 20815-7015
(301) 652-5553 voice or (301) 654-0171 (fax)
Additionally, knowing about the specific cause of a disability often gives parents a way to connect with other families facing similar concerns. There are many disability specific support groups listed in the January 1996 Exceptional Parent magazine.
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