In
the 1860s English physician John Langdon Haydon Down
(18 November 1828 – 7 October 1896)
|
wrote some of the earliest
descriptions of what is today known as the Down
Syndrome spectrum. |
Somewhat ironically, one of his grandsons was later
diagnosed with the condition.
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In 1959
Down Syndrome was discovered to be caused by a third
copy of chromosome 21. |
In the years since it has
gradually been learned that one need not have a
complete third copy of the |
of the chromosome – there are
a variety of effects involving parts of chromosome 21.
How exactly |
the extra DNA causes
the many symptoms of associated with the Down Syndrome
spectrum |
remains elusive. |
However,
leukemias are 10 to 15 times more common in children
with Down syndrome. |
|
In particular,
acute lymphoblastic leukemia [ALL] is 20 times more
common AND |
acute
megakaryoblastic leukemia [AMKL] is 500 times more
common. |
|
For parents of a Down
Syndrome spectrum child the strategy would be to use
DNA sequencing to |
clarify what type of Down
Syndrome the child has. In addition, it is necessary
to also check for |
leukemia and other possible
challenges. Like the spectra for autism, ataxia,
arthrogryposis, cerebral |
palsy and so on, what
is really needed is to get the whole genome sequenced
so that the so-called |
secondary challenges
involving asthma, food allergies, seizures, digestive
complications (like irritable |
bowel diseases),
sensitivities to light, sleep or circadian rhythm
disruptions and so on can all be |
identified. |
|
Some legislative
recommendations – nothing partisan here. If we measure
the strength of a society |
by how it treats its weakest
- the young, the old, the poor and the disabled - then
what a strong |
society or state or
culture does is something like |
1. Build out an
internet-accessible database with mutation-level
information |
2. Fund a committee of
experts to review contents so that published reports
of mutations can be |
evaluated promptly on an
ongoing basis. |
3. Mandate that government
agencies at the city, county, state and federal levels
use the database |
for law enforcement, judicial
systems, education, Social Security disability
determination, |
employment discrimination,
health insurance and epidemiology. |
4. Consider requesting
that international partners, in addition to forwarding
research, also assist |
with translation of
syndrome names and syndrome synonyms. Note that it
would likely be very |
useful to some technically
inclined parents to have abstracts of key research
publications translated. |
5. Currently, the vast bulk
of gene names, syndrome abbreviations and mutation
descriptions are |
given in the Latin alphabet
and in English. It is likely that in the future
epigenetic descriptions will |
also be given this way. It is
worth discussing with international partners of
transliteration of a gene |
name like MECP2 into Arabic,
Cyrillic or Chinese characters should be pursued. |
6. Require that DNA
sequencing companies refer to the database when
reporting customer DNA |
7. No (zero) links to a
person |
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For the
previous page of the attachment click here |