3.21 Three two one  
3.21 A newsletter that examines the medical aspects of Down syndrome
Vol. 2, No. 1, March 1999
  Reprinted with the permission of Karalee Wetzel

Thanks to all of you who resubscribed. An extra thanks to those who sent suggestions. I will do my best to get to them all.

Jill's New Work
Jill James is still working on the MTHFR defect in mom's of children with DS. However, she has recently started working on another project. She is looking at leukemia in DS to see if there is a way to predict who gets it and who does not. Expect to hear more as the research progresses.

This Issue
Speech, cell therapy, more on Alzheimer's disease, swallowing, parent's of special needs kids and intimacy, and lots of miscellaneous.

Next Issue
Vaccines in DS, sensory integration and auditory processing

Dr. Heimlech's Advice
     I was home studying a few days ago, and Regis was on. They announced that Dr. Heimlech, the doctor who invented the Heimlech Maneuver for choking victims, was going to be on. I have been an EMT for years and am certified to teach Basic Life Support, so I did not think he was going to tell me anything new, but I was wrong. The things I learned could save a life.
     First, I was trained that with drowning victims, do not worry about getting the water out of their lungs, just do the CPR and/or rescuer breathing. The Red Cross still teaches this. Dr. Heimlech explained that if the lungs are full of water, oxygen exchange cannot happen. I always wondered about that, but assumed that this had been studied and that we were being taught correctly. He suggests doing the Heimlech just as you would on an unconscious choking victim (thrusting your fist in and up on their diaphragm while the victim is on their back) and the water will come flying out. Then do CPR.
     Another difference was in how to handle the choking of an infant. The Red Cross teaches rescuers to do thrusts while the child is on their back, then flip them to their stomach with their head towards the floor and do back blows. Heimlech says to do the Heimlech the same way you would an unconscious choking adult, but use a few fingers instead of the fist
     This man has saved so many lives, not only by the choking maneuver, but he invented the chest tube which has saved thousands of lives. He is currently working on AIDS research.

Alzheimer's Bits
Another connection to DS
There was a recent reported case of a 78 year-old woman with DS. Not only is her age amazing, but she did not have Alzheimer's disease. That news is not positive, however. It seems she was missing part of the third copy of chromosome 21. The researchers believed the part she was missing was the part that leads to Alzheimer's in those with DS, and that this case only adds more evidence for the connection between the two diseases.

S-100 is a protein released by brain cells and is overexpressed in DS. Researchers developed transgenic mice that overexpressed S-100. The altered mice had brains that resembled the accelerated aging seen in AD and DS . The authors believe that the S-100 may be a big part of both diseases.

Amyloid Precursor Protein (APP) is the hallmark of Alzheimer's. While it is expressed in low levels in healthy people, it is expressed more in the aging and those with Alzheimer's and DS. APP is on chromosome 21, which explains why it is elevated in DS. In the brain it can lead to fibronic tangles and eventually cell death. Researchers looked at fibroblast cells of those with DS. Compared to normals, the DS fibroblasts secreted 94.6% more APP. Those results are similar to people who have an extra APP gene.

     Govini, S. et al (1996) Fibroblasts of patients affected by Down's syndrome oversecrete amyloid precursor proteins and are hyperresponsive to protein kinase c. Neurology. 47(4): 1069-75.
     Prasher, V. et al (1998) Molecular Mapping of Alzheimer's-type dementia in Down's syndrome. Ann Neurol. 43(3): 380-3
     Whitaker-Azmita, P, et al (1997) Transgenic mice overexpressing the neutropic factor S-100 beta show neuronal cytoskeletal and behavioral signs of altered aging process. Brain-Res. 776(1-2) 51-60

Parent relationships
     The parents of 31 kids with DS, 31 with autism, and 62 "normals" were studied for items such as marital intimacy, stress and depression. It was found that parents of normals had the highest intimacy and the lowest stress of the group. Parents of autistic children were on the opposite side, with stress highest and intimacy lowest. Parents of DS kids fell between the two groups.
     Personally, I remember being told that most marriages break up after having a child with special needs. However, I do not recall even meeting a single parent with a special needs kid, although I am sure they are out there. What the study did not address is that perhaps special parents express their intimacy in very different ways.

     Fisman, S., Wolf, K. and Noh, S. (1989) Marital intimacy of parents of exceptional children. Can-J-Psychiatry. 34(6): 519-25

Speech in DS
The following are research results from studies done by Dr. Jon Miller who has been looking at speech and communication in children with DS for years. He is at the University of Wisconsin-Madison
When I spoke to Dr. Miller a few years ago, he sent me a large packet of information. This is a summary of his findings which cover many topics.

Two types of talkers
Miller and associates looked at 43 children with DS ages 11 to 58 months old and followed them for a few years. He found two distinct profiles for speech (for 95% of the children studied).
In the first, language is delayed, but is at the level of that child's cognitive development. If a child was 6 months delayed cognitively, they were also 6 months delayed with speech. About 40 % of the kids under age 2 were in this group.
The other 60% (under age 2) were in the group where their language was not as developed as their comprehension or cognitive development.
What is amazing is what happens after age 2. Nearly all the children with DS are now in the 2nd group - their comprehension and cognition is greater than their speech.
Overall, the children with DS had more words early in development (sign plus speech) when comparing mental ages, but this advantage disappears.

When they put 2 words together
Kids with DS need about 2 times as many single words in their vocabulary as normal to start saying 2 word sentences. "Normals" require about 50 word before they start using multiword sentences, where children with DS average around 100.

Sign Language and Parent Perception
This looked at many aspects of sign language in DS. Of the parents of 46 kids with DS surveyed, 80% said that their child had used sign. Here are some interesting results from the "signing" parents:

What skills lead to more speech?
Miller performed multivariate analysis to find predictors of speech development in kids with DS. Here is what he found:

     Of social skills looked at, symbolic play and mental age were the best predictor of speech 18 months later.
     Of the specific speech components, speech motor skills and phonic inventory (how many sounds can they make) best predicted speech skills 18 months later.

Miller looked at the later finding and found that part of the real problem with speech in DS is the inability to form the words, and has little to do with comprehension. Tying this together, Miller found that 46-56% of the children he studied had structural differences of some kind which could hinder speech. They included a small or retracted jaw, open mouth, high arch, tongue or teeth problems.

Parent Perception
Another thing that Miller looked at was parental perception of their child's communication ability. They tested and found that parent report of their child's ability was as valid for "special" parents as it was for normals. So we are not just making it up when we brag to the therapist.

Probably Miller's most profound realization is that speech development in kids with DS is not just a "slowed down version of normal" but is different than normal.
Miller's suggestions for interventions

These authors reviewed existing material on reading strategies and integrated it with what they knew about phonics. They stated how the big push is phonics: teaching how many different sounds a letter can make, rhyming, etc. There are some out there that believe skills in phonics are needed in order to read. These authors concluded (as we probably all already knew) that many kids with DS read, even though they are typically deficient in phonics. Often, a more visual approach is needed to teach those with DS.

     Cossu, G., Rossini, F., and Marshall, J. (1993) When reading is acquired but phonic awareness is not: a study of literacy in Down's syndrome. Cognition. 46(2): 129-38.

It is very rare that I actually learn anything useful at school. Here are a few things that are worth remembering:

Cell Therapy
Cell therapy has been around a long time as a treatment for DS It involves injecting cells (usually of animals) into kids with DS. The hope is that the cells that lack trisomies will normalize some of the reactions and enzyme levels in the children receiving the cells.. Some parent report has been positive, but what do the studies show?
One looked at 190 kids with DS. 21 of them had received cell therapy (not provided by these researchers). Comparing those who received the cell therapy against those who did not showed no significant differences in 18 variables in the areas of growth, motor, cognitive or social development.
Another study looked at 55 different areas of comparisons between children with DS who had received cell therapy and those who did not.
Only 2 of those 55 had statistically significant differences. The authors suggested those benefits were not worth the potential risks of cell therapy.
There are (at least) two concerns about cell therapy. The first is that there could be a virus, piron or some other bug lurking in those cells. The second is that there could be some type of hypersensitivity reaction that might eventually lead to an autoimmune disease.

     Foreman, P. and Ward, J. (1987) An evaluation of cell therapy in Down syndrome. Aust Paediatr. 23(3): 151-6.
     Van Dyke, D. et al (1990) Cell therapy in children with Down syndrome: a retrospective study. Pediatrics. 85(1): 79-84

Swallowing problems in DS; perhaps a link to respiratory infections.
The swallowing behavior of 19 kids with DS was reviewed. Most of the children had problems with at least one of the swallowing phase.
Aspiration (getting liquids into the lungs) was found in 10 out of the 19.
Aspiration could be a factor in respiratory infections. This may be something to consider in children plagued by respiratory infections, especially phenomena.

     Frazier, J. and Friedman, B. (1996) Swallow function in children with Down syndrome: a retrospective study. Dev Med Child Neurol. 38(8): 695-703.

A Call for Positive News
A Band of Angels, the people that make the great photos of kids with DS and put them on calendars, cards, etc., are putting together a collection of "inspiration" concerning our kids. They are asking for poems, stories even photos (that won't be returned) of a child with DS.

Please send by April 1 to:
Beautiful Faces
3048 Charlwood Drive
Rochester Hills, Michigan 48306

Include your name, address and phone along with the child's name and age.

3.21 is not associated with any organization.
The information provided is not intended as medical advice. Please consult your physician.

To subscribe, send name, address, phone number and a check for $16 (annual) to:

Karalee Wetzel
675 35th St
Des Moines IA 50312

E-mail Karalee.A.Wetzel@dmu.edu

Revised: May 9, 2000.