|3.21 Three two one||
3.21 A newsletter that examines the medical aspects of Down syndrome
Vol. 3, No. 2, April 2001
|Reprinted with the permission of Karalee Wetzel|
|This issue: Osteoporosis in MR, Earlier Diagnosis of AD, Intubating Kids with DS, Interferon Altered Mice and more|
I just attended a conference about research into autism. The big theme is that autism is either autoimmune, or a viral infection that cannot clear. Andrew Wakefield (recently on 60 Minutes) has found that kids with autism have guts that look like colitis. In the lymphoid cells in the gut, he has found measles virus. That finding has been backed by other labs. Of course that doesn't mean that measles, or the vaccine MMR causes autism, but it makes one wonder. Wakefield also discussed how in 1993, he found measles in the guts of those with Crohns and in Colitis. He found that being exposed to the virus at different time set one up for one or the others. He has observed that oldest children are more likely to have Crohns, and middle kids Colitis.
Michael Goldberg is a pediatrician in California. He found high levels of HHV6 in the blood of autistics. HHV6 is the virus that causes roseola. He has had great success using anti-virals. He also discussed the recent finding regarding Chronic Fatigue Syndrome and HHV6 (actually other viruses as well).
Other mental health diseases such as bipolar disorder and schizophrenia also are starting to look either autoimmune and/or low-grade viral infections. The genetic component may be the inability to clear those infections properly is passed along.
Survival of Infants with DS 1980-96
This study looked at the survival rates of babies born with OS in Western Australia in 1980-1996. For babies with DS born in that period, there was a 91% survival until age 1. Even more amazing is that 85% live to 10 years of age.
Mortality was higher in females and in those with low birth weight. There was no difference between those born in rural or metropolitan areas.
Leonard, S et al (2000) Survival of Infants born with DS 1980-96. Paed-Peri-Epi 14(2) 163-71
Osteoporosis in those with MR
Although osteoporosis is thought of as a disease of post-menopausal women, I can tell you from personal experience that it is not that choosy. After a few foot surgeries that took too long to heal and a fracture in my foot, I had a dexa scan to find out if my bone density was good, it was not. I am considered ospteopenic (how they define you before you have full-blown osteoporosis) which puts me at a much greater risk of bone fractures. While things like long-term steroid use or eating disorders are normally the cause of women my age (35) having problems like this, I do not have those risk factors. Men can also get this disease. Jill James believes that my folate problems found in her research are the cause. If you are folate depleted, it is like being on methotrexate which is known to be harmful to bone.
Researchers looked at adults ages 40-60 in the community with MR to see what their bone density was like. Dexa scans showed that 21% had osteoporosis and 34% had ostropenia - so over ½ had poor bone density levels. Having OS in this group was a risk factor.
Calcium supplements, staying active (especially weight lifting) and making sure estrogen is given to post-menopausal women get estrogen is part of the prevention.
Tyler, et al (2000) Mental-Retard 38(4), 316-21
Early Diagnosis of Alzheimer's Disease
Previously, Alzheimer's (AD) was diagnosed clinically by a person's signs and symptoms. That was not always reliable. With today's technology, however, we can soon get brain scan and know for sure. One paper showed that PET scans showed a pattern of metabolic deficits in the temporal and parietal lobes. Some similar brain abnormalities can be seen in nondemented subjects predisposed to getting Alzheimer's, such as those with OS and those with genetic defects associated with early Alzheimer's. Early diagnosis using PET may eventually lead to earlier treatment and possible prevention.
Early diagnosis of Alzheimer's disease with PET. Alzheimer-Dis-Assoc-Disord. 2000 supplement 1 s109-13.
Teens with DS Doing Algebra
Two high school students with DS, one boy and one girl, were taught to do algebra with very little classroom adaptations. Both were able to calculate expressions with parenthesis, positive or negative numbers and even with powers.
More calculator use was needed, as was visual cues. This was done in a full inclusion environment.
Martinez, EM (1998) Teenagers with DS study algebra. Down-Syndr-Res-Pract. 5(1): 34-8. [See: Teenagers with Down Syndrome Study Algebra in High School]
Ovary Removal Increases DS Risk
Women who have had an ovary removed, or even part of an ovary removed, have been found to have an increased risk for having a baby with DS. In fact, the increased risk (a.k.a. relative risk) is 9.61 times. Although the researchers did not know why, they guessed that it was because these women had biochemical markers consistent with advanced maternal aging such as a higher-than-normal FSH level.
Freeman, SB, et all (May, 2000) Women with reduced ovarian compliment may have an increased risk for a child with DS. Am-J-Hum-Gen. 66(5): 1680-3
Kids with DS need smaller airway tubes
Endotracheal tubes (ET) are used when someone cannot breath for themselves such as after a trauma or during surgery. It has been known that airways of DS kids are smaller than normal. It was also recommended that smaller than normal (for their body size) ET tubes be used for kids with DS, however no one has done research to get the numbers down. A recent study looked at "air leak" (how they test ET sizing in research) around ET tubes in 42 kids with DS and 32 normals. They found that kids with DS needed an ET tube 2 sizes smaller than one would normally choose based on a child's age and size. Picking an ET tube that is too large could result in trauma and damage to the airway.
Botto, LD & Yang Q (2000) DS analysis of airway size and a guide for appropriate intubation. Laryngoscope 110(4), 585-92.
DS Mice Genetically Engineered Do Better
Mice that have a trisomy on chromosome 16 have very similar features to humans with trisomy 21. Those mice have been the animal models used to study DS. I previously wrote about research where they used antibodies to Interferon receptors in mice pregnant with Trisomy 16 fetuses and that those mice did significantly better than those whose mothers did not receive those antibodies. Those researchers are now able to genetically alter these mice so that those interferon receptors are damaged (instead of relying on antibodies to block them). These mice had significantly improved growth and had cortical neuron levels equal to normal mice.
Mauron, LE et al (2000) L-Interferon-Cytokine-Res 20(2), 197-203
Safety of Neck During Surgery
We all know that kids with DS have a larger incidence of Atlanta Axial Instability (a.k.a. AAI), which could put them at risk for neurological damage. That risk is increased if the neck is traumatized.
This study looked at kids with DS who were undergoing surgery via ENT specialists (tubes). It had been suggested that the rotation and extension that the neck is put in during surgery (when the child is intubated) could neurologically impair a child with DS. The kids in this study had DS, normal neck X-rays, and no neurological problems before surgery (therefore, they probably did not have AAI).
They checked neurological function throughout surgery, and found it was not impaired by the position the neck was placed in during surgery. That may give parents (and surgeons) a bit more confidence about doing surgery in a kid with DS and a normal neck X-ray.
Todd, NW et al (2000) Safety of neck rotation for ear surgery in children with DS. 110 (9); 1442-5
This newsletter is not associated with any organization.
The information provided in 3.21 is not intended as medical advice. Please discuss all treatments with your physician.
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