Rare Disorders  
Linda Blevins, Division Director
The MAGIC Touch • Spring 1998
Vol. 9, Issue 1, pp. 30-2 		  Reprinted with the permission of The MAGIC Foundation
1327 N. Harlem Avenue, Oak Park, IL 60302-1376
1 (800) 3 MAGIC 3
(708) 383-0808 Fax: (708) 383-0899
E-Mail: mary@magicfoundation.org
FROM THE DIRECTOR
     Welcome to the combined division of Down syndrome and Rare Disorders! As parents of a child with disabilities or medical disorders, we have many challenges. Our goal at MAGIC is to offer a forum where parents can share their experiences and in doing so educate and possible assists other parents on this less traveled road.
     My son Jordan has Down syndrome. Down syndrome is a genetic disorder resulting in an extra chromosome 21. Initially the picture the medical community painted of Down syndrome was very bleak. Interaction with other parents lead us to investigate the metabolic and endocrine disturbances of DS that are created by the over expression of the genes located on the extra chromosome. Determined, we tested Jordan's altered metabolism. Testing revealed vitamin, mineral and amino acid deficiencies and a growth hormone deficiency. Jordan was classified as having hypothalamic dysfunction and started on growth hormone therapy. Under the care of our physician, endocrinologist and biochemist, we embarked upon a program to treat Jordan's deficiencies. Utilizing applied nutritional science and growth hormone therapy; Jordan is literally a new child. Yes, Jordan does experience learning disabilities and speech delay, but thanks to growth hormone and vitamins, he has a whole new future.
     Jordan's success with growth hormone has motivated me to become a division director with MAGIC. With the creation of the Rare Disorders Division, I would like to structure the division so there is a lead parent for each specific rare disorder. As calls come into MAGIC, they would be forwarded to me, the division director. Then I would pass them on to a section leader for each specific disorder. These key lead parents would then be able to understand and assist the parents seeking help and information. For most of us, it has been vital from an emotional and educational viewpoint to speak with other parents whom are experiencing the same situation. Personally, my contact with other parents has been invaluable in helping Jordan.      I encourage you to send in your personal stories. If you have collected medical information or medical abstracts on your child's disorder, let's put it on file at MAGIC for other parents. Please feel free to call me at (706) 638-6700. Most of all, I encourage you to volunteer a little of your time. To make this division successful I need your participation and feedback. Join the MAGIC networking.

HEARING DEVELOPMENT
     Since the combination division is new, I do not have letters for the Rare Disorders section. So, I thought I would look at medical aspects that may impact hearing development. When your child is at risk, sometimes it is difficult to figure out the characteristics of the disorder, verses what are symptoms of other medical problems. One thing that is vital is to ensure your child's hearing is optimal, no matter what disorder your child has. The following guidelines were supplied by the offices of Dr. Hobeca and were formulated by the National Institutes of Health. Dr. Hobeca assisted in the development of the cochlea implant and is a leader in his field.

Identification of Hearing Impairment
HISTORICAL. (1)
In 1989 Surgeon General C. Everett Koop established a national goal of reducing the average age for identification of hearing impairment, to age 12 months, by the year 2000, followed by immediate and appropriate intervention. In 1990 the NIH joint Committee on hearing recommended testing of at risk infants before discharge from the nursery (infants with known risk factors for perinatal hearing impairment). In 1993 the NIH joint Committee recommended a universal hearing-screening program. In 1994 the Joint Committee on Infant Hearing 1994 Position Statement endorsed the goal of universal detection of infants with hearing loss as early as possible. All infants with hearing loss would be identified before 3 months of age, and receive intervention by 6 months of age. Since 1994 several stales have successfully established a Universal Infant Hearing Screening programs. For infants an ABR (Abnormal Brain stem response) test is performed to test for hearing loss. Indicators Associated with Sensorineural and/or Conductive Hearing Loss.

  1. NEONATES (BIRTH THROUGH AGE 28 DAYS)
    1. Family history of hereditary childhood sensorineural hearing loss.
    2. In utero infection, such as cytomegalovirus, rubella, syphilis, herpes, and toxoplasmosis.
    3. Craniofacial anomalies, including those with morphological abnormalities of the pinna and ear canal.
    4. Birth weight less than 3.3 lbs.
    5. Hyperbilirubinemia at a serum level requiring exchange transfusion.
    6. Otoxic medications, including but not limited to the aminoglycosides, used in multiple courses or in combination with loop diuretics.
    7. Bacterial meningitis.
    8. Apgar scores of 0-4 at I minute or 0-6 at 5 minutes.
    9. Mechanical ventilation lasting 5 days or longer.
    10. Stigmata or other findings associated with a syndrome known to include a sensory neural and/or conductive hearing loss.
  2. INFANTS TO 2 YEARS. When health conditions develop that require rescreening.
    1. Parent/ care giver concern regarding hearing, speech, language, and/or development delay.
    2. Bacterial meningitis and other infections associated with sensory neural hearing loss.
    3. Head trauma associated with loss of consciousness or skull fracture.
    4. Stigmata or other findings associated with a syndrome known to include a sensorineural and/or conductive hearing loss.
    5. Ototoxic medications, including but not limited to chemotherapeutics agents or aminoglycosides, used in multiple courses or in combination with loop diuretics.
    6. Recurrent or persistent otitis media with effusion for at least 3 months.
     Abnormal or inadequate auditory sensory input during the critical child development periods have important medical implication. They should be recognized as disease vectors, the same as a virus, bacterium, or an aberrant gene. All hearing losses in children, including mild and moderate, should receive remedial intervention as early as possible. (Thank you AO for supplying these very important guidelines to MAGIC families.)

IMPROVING HEARING
     Parent BG sent an article titled Classroom Management of Children with Minimal Hearing Loss by Carol Flexer (2). This article stresses that even the mildest of hearing loss can negatively affect academic performance. Research reveals that approximately one out of every five children have some degree of hearing loss. (I personally find this amazing) Carol Flexer writes: Speech is audible if the person is simply able to detect sound. However, for speech to be intelligible, the person must be able to discriminate the word sound distinctions of individual phonemes. Consequently, speech might be very audible, but not consistently intelligible to a child with a minimal hearing loss, causing the child to hear, for example, words such as walked, walking, walks all as ah. Noisy classroom environments further complicate the situation and degrade listening skills and affect auditory comprehension. Hearing loss of any degree can interfere with the development of a child's spoken language, reading and writing skills, and academic performance. That is, hearing loss can be described as an invisible acoustic filter that distorts, smears, or eliminates incoming sounds, especially sounds from a distance. The negative effects of a hearing loss may be apparent (poor grades, behavior issues), but the hearing loss itself is invisible and easily ignored or underestimated.
     Classroom environments are noisy places, with squirming children, shuffling books and papers, the hum of air conditioners and fluorescent lights, and the cough and sniffling of the children. Outside is the buzz of traffic and children talking in the halls. (I know that at home my three children can be so loud, I can't think straight.) The measurement of speech levels compare to background sounds is called the speech to noise ratio (S/N ratio). In the article Noise Alert (3) by Parents magazine discusses the fact that noise induced hearing loss in children is on the increase. Highlighted are studies that have documented the harm that noise has had on children's cognitive and intellectual development. Strategies to Optimize Children's Classroom Performance (4) discusses techniques to reduce noise levels in the classroom and suggestions for teacher strategies to enhance listening environments. The focus is on children and several checklists are included.
     Carol Flexer, for these types of situations, recommends the use of an amplification device. Amplification devices are also called personal FM systems or assistive listening devices. With these devices, a teacher or parent wears a microphone and the child wears headphones or has a speaker sitting on their desk. The sound source is then directly inputted into the child's ears to improve the child's reception of intelligible speech and to block out noisy classroom or background sounds. Improvement of the S/N ratio for the minimal hearing loss child can result in improvements in learning.

AMPLIFICATION DEVICES
Sound amplification devices are available from a number of sources. Listed below are several options. If your child has a documented hearing loss, you may be able to obtain this equipment through your local school system. Typically an audiologist would be involved in this process. Always check with your local professionals.

Audio Enhancement. 12613 S. Redwood Road Riverton, Utah 84065 800-383-9362
Phonic Ear, 3880 Cypress Drive Petaluma, CA 94954-7600 800-227-0735
Williams Sound, 10399 W. 70th Street Eden Prairie, MN 55344 800-843-3544
DOWN SYNDROME AND HEARING
     People with Down Syndrome have long been recognized as an at risk group for hearing loss. Studies repeatedly report a discrepancy between receptive language and expressive language. In this disorder, ear canals are documented to be very small and abnormally shaped making it difficult for the ears to drain. Ear infections (otitis media), wax build up (cerumen impaction) and effusion (fluid behind the eardrum) are common. It is estimated that perhaps as high as 75% of DS individuals experience conductive hearing loss. Could this consistent, persistent hearing loss be the cause of the delay in speech and communication skills in DS?
     The authors of the study Otological and Habilitative Management of Children with Down Syndrome by Pappas, MD, Flexer, PhD; and Shakelford, MA. Present an aggressive, multi-discipline treatment model that is instituted during the first year of life. Reconstruction of the external auditory canal, amplification technology, and speech/language intervention that emphasizes auditory-verbal therapy are discussed. In a pilot study, we compared the language development for six infants with Down syndrome who received aggressive treatment during their first year of life (group A) to six infants who did not (group B). The results showed age-appropriate oral language development for the infants in group A.
     While this is just a pilot study with only a small group, the results arc remarkable. I have never met a DS individual with age appropriate speech. This study has some major implications.

PARENT FEEDBACK
Dear Linda,
     Three months ago, my daughter got started on growth hormone therapy. I want to show you a table showing her speech records. When she started taking GH at 35 months, Bibiana was speaking only two word phrases. I decided to consider only phrases at least three words long.
     After collecting the data, I organized a table and saved it in HTML for you to see. You'll find it at the end of this post. The table shows the child speech performance before and after starting on growth hormone therapy. She has had a giant improvement. I also invented a Speech Indicator. This indicator is equal the number of three word combinations times three, plus the number of four word combinations times four and so on. As you can see, the speech indicator had a major increase after the treatment. Bibiana also had a good performance in growth. She grew 3 cm. in three months. P, Brazil

Speech Before and After GH Therapy
Period Word Phrases  Indicator 
  3     4     5     6  
Before GH  21 0 0 0 63
1st month 71 6 0 0 237
2nd month 92 16 1 0 345
3rd month 141 18 4 2 527

Dear P.
Congratulations on your daughter's wonderful growth and speech response to GH. In the DS growth hormone study Dr. Wisniewski did MRI's on the participants. She discovered the speech area of the brain became larger (unpublished results). She has also documented that the speech area disappears in nonverbal DS individuals.
CM, in Dallas reports that her daughter has grown tremendously on GH. Megan was once off the growth chart and is now in the 50% percentile. CM says her daughter's physical skills and performance in school has improved.
TC from Texas explains that her child has grown 2 inches, put on weight and added a centimeter to his head circumference. She also says the muscles in his face have developed, changing his appearance.

Cautious Optimism:
SM in Florida reports she has started her child on a gluten free and casein free diet. Jamie who has DS, has experienced autistic behaviors for several years. Since being on this avoidance diet, Jamie is now giving eye contact, seeking the company of her parents and is responding to and giving affection.

THE SAM CYCLE
I am placing on file a technical article on the SAM cycle. The SAM (S-adenosylmethionine ) cycle is hypothesized to be disrupted by the documented over expression of the enzyme cystathionine beta synthase in individuals with DS. Disruptions of this cycle could impair the creation of epinephrine, creatine, phosphatidylcholine, melatonin and create folic acid and B 12 deficiencies and affect the production of DNA and RNA.

ARTICLES ON FILE

  1. Hearing Development and NIH guidelines for risk factors for hearing impairment, from the office of Dr. Hobeca of Cincinnati, OH.
  2. Classroom Management of Children with minimal Hearing Loss, Flexer, C. The Hearing Joumal, Vol. 48, No. 9.
  3. Noise Alert, Laliberte, R.; Parent, Jan 1998.
  4. Strategies to Optimize Children's Classroom Performance, Edwards, C. Auditory Management Services, Symposium on Deafness, Oct, 1996.
  5. Otological and Habilitative Management of Children with Down Syndrome, Pappas, G., Flexer, C., Shackelford, L., MA. Laryngoscope 104: Sept. 1994.
  6. Down Syndrome Medical Check List, Cohen, W.: Down Syndrome Quarterly, Vol. I, June 1996.
  7. Tetrahydrofolate, Vitamin B 12 and S-Adenosylmethionine, Basic Medical Biochemistry, Marks, D. Marks A., Smith C.
 
  Revised: July 28, 1999.