ISRC- 1 -

In this Issue:

P.2 Tourrette /Fragile X

P.3 CHARGE Syndrome/CMV

A Note from the Director: Many children who are deaf exhibit

additional characteristics that are associated with a variety of syndromes. These syndromes, related to deafness, are the focus of the Spring issue of the ISRC newsletter.

Advanced technology and genetic testing enable families to identify the cause of deafness using methods that were not previously available. With this knowledge, families and educational teams can plan for accommodations specific to the needs of the child.

The “Pinup” in this issue focuses on suggested accommodations for children who have syndromes including CHARGE, Tourette, CMV, Usher and Fragile X.

Barb Sims, ISRC Trainer through April 30 2003, provided training last fall on a variety of syndromes to members of the Illinois Association of Administrators of Special Education. She was the primary contributor to this edition of the newsletter.

In addition to suggestions for accommodations, you will find explanations of several syndromes, descriptions of their characteristics, and resources for obtaining further information.

We receive numerous phone calls after each edition requesting permission to photocopy and distribute the “Pinup” or other portions of the newsletter. As always, feel free to share this information with others.

With a belief in access, acceptance and growth, Cheri Sinnott, LCSW ISRC Director

I l l ino i s Se r v i ce Resource Cente r 8 4 7 - 5 5 9 - 0 1 1 0 V o i c e /TTY 8 0 0 - 5 5 0 - 4 7 7 2 H e l p l i n e ( 2 4 Ho u r )

Ema i l : i s r c@ i n t e r a c c e s s . c om I n t e r n e t s i t e : h ome p a g e . i n t e r a c c e s s . c om/~ i s r c

Spring 2003 Edition The Center on Deafness in Northbrook is the administrative agent for the Illinois Service Resource Center.

Review

Increase Noted In Syndrome Related Deafness

In the late 1960’s and early 1970’s, many of the children in programs for deaf and hard of hearing students developed a hearing loss as a result of Rubella. Today, safe medicine is available to vaccinate against Rubella, but a variety of other factors contribute to the development of a hearing loss for most students. Improvements in neonatal care have led to an increased survival rate for babies who are premature or who experience birth related traumas. In addition, there has been a noticeable increase in the number of students who experience a hearing loss connected to a genetic syndrome.

Some of the more common syndromes related to hearing loss are highlighted in this edition of the ISRC Review. This list is not comprehensive in nature, and does not include, for example, Wardenburg, Treacher Collins or Landau Klefner. However, the following are those that the ISRC is most often contacted about for information.

Usher Syndrome Usher Syndrome is a genetic disorder that involves

congenital hearing loss and progressive loss of vision due to retinitis pigmentosa – a degeneration of the eyes’ retinas. Usher Syndrome is autosomal recessive, so a child must inherit the gene from both parents. While incidence of Usher Syndrome is approximately one in 18,000, it is estimated that Usher causes 10% of all hereditary deafness. Usher also accounts for more than 50% of all cases of deafblindness. (Continued on P.2)

ISRC- 2 -

(Usher Syndrome Continued from P.1) There are three major types of Usher Syndrome Types I, II and III. Usher Type I is characterized by a

profound congenital hearing loss, absent vestibular function and retinitis pigmentosa symptoms before adolescence. Usher Type II involves a moderate to severe congenital hearing loss, normal vestibular function and retinitis pigmentosa symptoms after adolescence. Usher Type III is characterized by a progressive hearing loss, beginning any time after birth through 40 years of age, and retinitis pigmentosa symptoms after adolescence. Symptoms: Behavioral symptoms of Usher Syndrome may include: night blindness; problems with light changes or dim lighting; glare sensitivity – squints or shades eyes in bright lights or florescent lighting; needs contrast – can’t see stars at night; restricted visual field – startles easily, bumps into others, may have difficulty reading; problems with visual acuity; balance problems.

Tourette Syndrome Tourette Syndrome (TS) is a genetic neuropsychiatric disorder characterized by waxing and waning multiple

motor and vocal tics. It is now widely agreed that TS is a genetic disorder. Tourette Syndrome is autosomal dominant – when one parent is a carrier or has TS, there is a 50-50 chance that a child will receive the genetic vulnerability from that parent. Not everyone who inherits the genetic vulnerability will express the symptoms of TS. For female gene carriers, there is a 70% chance of clinical expression of the gene. For males, there is a 99% chance of showing the gene. This “vulnerability” may be expressed in full-blown TS, in chronic multiple tics, or in obsessive-compulsive disorder. Males are more likely to have TS or tics, females more likely to have OCD. The severity of symptoms is highly variable. The incidence of full-blown Tourette Syndrome is approximately 1 in 2500, and three times that number in partial expression of the syndrome. Symptoms:

The symptoms of Tourette Syndrome can be divided into motor, vocal and behavioral manifestations. Simple motor tics are fast, darting, and meaningless. They include eye blinking, grimacing, nose twitching, lip pouting, shoulder shrugging, arm jerking, head jerking, abdominal tensing, frowning, tensing parts of the body, and rapid jerking of any part of the body. Complex motor tics often are slower, may consist of stereotyped series of movements and may appear purposeful. These tics may greatly impair school work, and may include such things as hopping, clapping, touching objects (or others or self), throwing, “dystonic” postures, biting the mouth (or lip or arm), head banging, writhing movements, rolling eyes upwards or side to side, making funny expressions, kissing, pinching, pulling back on a pencil while writing, and tearing paper or books.

Simple vocal tics are meaningless sounds and noises. This includes coughing, spitting, screeching, barking, grunting, gurgling, clacking, whistling, hissing, sucking sounds, and single syllable sounds (buh, uh, eee). Complex vocal tics are linguistically meaningful utterances (words, phrases), interruptions in the flow of speech, or sudden alterations in pitch or volume. Often, though not always, these tics occur at points of linguistic transition, like the beginning of a sentence. Includes “oh boy, “you know” “shut up” “you’re fat” “all right” “what’s that”.

Behaviorally, Tourette Syndrome is often associated with AD/HD, emotional lability, irritability, impulsivity, aggression, self-injurious behaviors, various learning disabilities, and social difficulties including peer rejection. As many as 50% of people with TS also have Obsessive-Compulsive Disorder.

Fragile X Syndrome Fragile X Syndrome is the most common inherited cause of mental retardation. A person with Fragile X

Syndrome has a mutation in the DNA of the X chromosome. The full mutation appears in approximately 1 in 3600 males and 1 in 4000-6000 females. A smaller percentage of females are affected by Fragile X, and the impact is usually less in females. This is because males with Fragile X have only the mutated gene, while females have a normally functioning gene to partially compensate for the mutated gene.

Fragile X is one of a small number of disorders that increases in impact over several generations. Beginning as a premutation, there is an increased possibility that the next generation of children will receive a full mutation. Approximately 1 in 250 females and 1 in 800 males carry the premutation. Males with this premutation will pass it on to all of their daughters and none of their sons. Each child born to a female with the premutation has a 50% chance of receiving the mutation. (Continued on P.4)

ISRC- 3 -

.

CHARGE Syndrome

CHARGE Syndrome is sometimes still referred to as CHARGE Association. As with any syndrome, there is a wide variation in severity of symptoms. Recent research strongly suggests that CHARGE is genetic, though specifics are not yet known. The incidence of CHARGE is between 1 in 10,000 – 1 in 12,000 births. Diagnosis of CHARGE Syndrome is based on identifying 4 major characteristics, or 3 major and 3 minor characteristics.

C = Coloboma. Failure of closure in the formation of the eyeball. Think of it as a pie with a slice missing. This may occur in any part of the eye: iris, retina, choroid, etc. Approximately 80-90 % have this characteristic

H = Heart defect. About 80-85% of children with CHARGE are born with a heart defect. Many are minor, but may require treatment or surgery. More complex heart defects, such as Tetralogy of Fallot can be life threatening.

A = Atresia of the choanae. Choanae are the passages from the back of the nose to the throat, which make it possible to breathe through the nose. Atresia means that this passage is blocked. Surgery can often correct these defects, though multiple surgeries are often required. This occurs in about 50-60% of children with CHARGE.

R = Retardation of growth and development. This occurs in all children with CHARGE. Retardation of physical development is much more widespread than mental retardation. There is much disagreement as to whether mental retardation is indeed a hallmark of CHARGE, or a by-product of sensory impairment and loss of school time for medical treatment in early years.

G = Genital anomalies. Genital hypoplasia is most commonly recognized in males, with small penis size and/or undescended testicles. This occurs in 35%-50% of children with CHARGE. Both genders frequently experience a lack of secondary sexual development, and may need hormone therapy to achieve puberty.

E = Ear anomalies. Most children (91%) have unusual external ears. Short, wide ears with little or no lobe, often with a “snipped off” appearance to the helix are characteristic of children with CHARGE. Abnormalities of the bones of the middle ear, and hypoplasia of the semicircular canal, causing balance problems, may also occur. Anywhere from 60-85% of children with CHARGE have hearing loss, depending upon the abnormality. Most of those have a significant hearing loss.

Other symptoms of CHARGE may include a lack of the sense of smell, facial palsy, swallowing problems, and weak upper body strength. Facial features may include a square face with a prominent forehead, arched eyebrows, big eyes, sometimes droopy eyelids, prominent nasal bridge, cleft palate and facial asymmetry.

Congenital CMV Cytomegalovirus (CMV) is a common virus that infects people of all ages. Congenital CMV is the leading

cause of nonhereditary deafness in children. It has been estimated that congenital CMV infection accounts for about 10,000 cases of sensorineural hearing loss per year in the United States. This occurs when a pregnant woman comes in contact with CMV. In the United States, between 50% and 85% of adults will be infected with CMV by the age of 40. In most of these cases, the individual has no signs or symptoms. CMV is the most common congenital infection in infants in the United States. It is estimated that about 40,000 infants are born each year congenitally infected with CMV. CMV infection is diagnosed by isolating the virus from urine, saliva or tissue collected during the baby’s first three weeks of life.

Symptoms Most infants born with CMV infection (90%) will be symptom free. The remaining 10% will have the

symptoms of congenital CMV disease. These symptoms include: microcephaly, small body size, red spots under the skin, enlarged liver, enlarged spleen, jaundice, anemia, pneumonia, seizures, abnormal muscle tone, calcium deposits in the brain, vision loss and hearing loss.

ISRC- 4 -

Characteristics of Fragile X (continued from P.2) Characteristics include mental impairment -- ranging from

learning disabilities to mental retardation; AD/HD, autism, seizure disorders, anxiety, recurring middle ear infections, speech and language disorders or sensory integration problems. Physical characteristics may include long face, large ears, high arched palate, flat feet, double-jointed fingers, enlarged testicles and macrocephaly. Typically, physical features do not appear until the onset of puberty. No one with Fragile X will have all of these characteristics, and none of these characteristics appears in every individual with Fragile X.

Up to 80% of males with Fragile X Syndrome are cognitively delayed. Females who inherit the Fragile X gene from their fathers generally do not have reduced cognitive performance. Females who inherit the gene from their mothers may have cognitive difficulties, which display themselves as learning disabilities.

ISRC Staff

Cheri Sinnott Director Jacki Marcus Educational/Psychological Consultant Dr. Steve Vaupel Behavioral/Psychological

Consultant Craig Vescelus Information Specialist Ann Sego Administrative Assistant

Barbara Sims New ISBE Principal Education Consultant

Barbara Sims, ISRC Trainer/Educational Consultant from August, 1997 to April, 2003, has been appointed Principal Education Consultant for the Illinois State Board of Education. One of her primary responsibilities will be to provide consultation to Deaf and Hard of Hearing Programs. During her time with the ISRC, Ms. Sims developed numerous training modules and provided training on a wide variety of topics throughout Illinois. In addition, she provided technical assistance to families and educational teams for students who are deaf or hard of hearing and have an emotional/ behavioral disorder. The ISRC will miss her valuable input and contributions, and wishes her the best of luck in her new position.