I made a mistake in the last description, she can now move her eyes
-----Original Message-----
From: Lauren Brigham-Burke <[log in to unmask]>
To: C-PALSY <[log in to unmask]>
Sent: Fri, Dec 2, 2011 12:56 pm
Subject: Re: Need reasonable goals
Hi
am looking for some reasonable goals/objectives for a semi conscious 1 year
everely brain injured 21 year old girl who suffered a traumatic car pedestrian
ccident when studying abroad. I have been treating her as a gift since last
pril. Since then she has recently lost her PT services however is being
valuated by a rehab for out patient PT. The mother has asked that I help her
o prepared with some goals. Improvements are as follows. She can not move her
yes in all planes and spot focus as directed on a face, large picture, letter,
olor, etc. She has very poor neck control (increased with weight bearing on
er right upper extremely. She has a very tight (passive ROM to approx 85
egrees) of the right shoulder and some minimal active ROM in the fingers
working on grasp and release-needs significant help with positioning and
upport) and slight movement in the plane of adduction using shoulder and elbow
inimally. This enables her to respond on command to go towards to touch an
bject etc. Her LUE has much more PROM and again very slight in the shoulder
xtension and adduction plane. These motions are extremely minimal however
hese are improvements. The legs rarely show movement however I have noted some
race movement in the left. The right leg is usually in a contracted extended
osition and knee flexion is passive only and difficult to obtain (requires hip
lex etc). She seems to recognize and process much more than she can present.
he is tube fed, in a diaper etc.
have some ideas but would love to hear from anyone else! even one would be
onderful
hanks for any help
usan OTR
-----Original Message-----
rom: Meir Weiss <[log in to unmask]>
o: C-PALSY <[log in to unmask]>
ent: Mon, Nov 28, 2011 5:28 pm
ubject: FW: NEURONS GROWN FROM SKIN CELLS MAY HOLD CLUES TO AUTISM
----Original Message-----
om: NIH news releases and news items [mailto:[log in to unmask]] On
half Of NIH OLIB (NIH/OD)
nt: November 28, 2011 16:35
: [log in to unmask]
bject: NEURONS GROWN FROM SKIN CELLS MAY HOLD CLUES TO AUTISM
.S. Department of Health and Human Services NATIONAL INSTITUTES OF HEALTH
H News National Institute of Mental Health (NIMH)
ttp://www.nimh.nih.gov/> Embargoed for Release: Sunday, November 27, 2011,
p.m. EST
ONTACT: Jules Asher, NIMH press office,
1-443-4536,<e-mail:[log in to unmask]>
EURONS GROWN FROM SKIN CELLS MAY HOLD CLUES TO AUTISM Rare syndrome's
rkings could help explain how brain wiring goes awry -- NIH-funded study
otential clues to how autism miswires the brain are emerging from a study
a rare, purely genetic form of the disorders that affects fewer than 20
ople worldwide. Using cutting-edge "disease-in
dish"(http://www.nimh.nih.gov/about/director/2011/skin-cells-to-neurons-di
ase-in-a-dish-promises-shortcut-to-discovery.shtml) technology,
searchers funded by the National Institutes of Health have grown patients'
in cells into neurons to discover what goes wrong in the brain in Timothy
ndrome (http://ghr.nlm.nih.gov/condition/timothy-syndrome). Affected
ildren often show symptoms of autism spectrum disorders
ttp://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-pervasive-d
elopmental-disorders/index.shtml) along with a constellation of physical
oblems.
bnormalities included changes in the composition of cells in the cortex,
e largest brain structure in humans, and of neurons that secrete two key
emical messengers. Neurons that make long-distance connections between
e brain's hemispheres tended to be in short supply.
ost patients with Timothy Syndrome meet diagnostic criteria for an autism
ectrum disorder. Yet, unlike most cases of autism, Timothy syndrome is
own to be caused by a single genetic mutation.
Studying the consequences of a single mutation, compared to multiple genes
th small effects, vastly simplifies the task of pinpointing causal
chanisms," explained Ricardo Dolmetsch, Ph.D.
ttp://www.nimh.nih.gov/media/video/dolmetsch.shtml), of Stanford
iversity, a National Institute of Mental Health (NIMH) grantee
ttp://projectreporter.nih.gov/project_info_description.cfm?aid=8206064&icd
1032931) who led the study. His work was partially funded by a NIH
rector's Pioneer Award
ttp://projectreporter.nih.gov/project_info_description.cfm?aid=8136230&icd
10319997).
olmetsch, and colleagues, report on their findings Nov. 27, 2011 in the
urnal Nature Medicine.
Unlike animal research, the cutting-edge technology employed in this study
kes it possible to pinpoint molecular defects in a patient's own brain
lls," said NIMH Director Thomas R. Insel, M.D. "It also offers a way to
reen more rapidly for medications that act on the disordered process."
rior to the current study, researchers knew that Timothy syndrome is caused
a tiny glitch in the gene that codes for a calcium channel protein in
ll membranes. The mutation results in too much calcium entering cells,
using a tell-tale set of abnormalities throughout the body. Proper
nctioning of the calcium channel is known to be particularly critical for
oper heart rhythm -- many patients die in childhood of arrhythmias -- but
s role in brain cells was less well understood.
o learn more, Dolmetsch and colleagues used a new technology called induced
uripotent stem cells (iPSCs)
ttp://stemcells.nih.gov/info/basics/basics10.asp). They first converted
in cells from Timothy Syndrome patients into stem cells and then coaxed
ese to differentiate into neurons.
Remarkable reproducibility" observed across multiple iPSC lines and
dividuals confirmed that the technique can reveal defects in neuronal
fferentiation -- such as whether cells assume the correct identity as the
ain gets wired-up in early development, said the researchers. Compared to
ose from controls, fewer neurons from Timothy Syndrome patients became
urons of the lower layers of the cortex and more became upper layer
urons. The lower layer cells that remained were more likely to be the
nd that project to areas below the cortex. In contrast, there were
wer-than-normal neurons equipped to form a structure, called the corpus
llosum, which makes possible communications between the left and right
mispheres.
any of these defects were also seen in parallel studies of mice with the
me genetic mutation found in Timothy syndrome patients. This supports the
nk between the mutation and the developmental abnormalities.
everal genes previously implicated in autism were among hundreds found to
expressed abnormally in Timothy Syndrome neurons. Excess cellular calcium
vels also caused an overproduction of neurons that make key chemical
ssengers. Timothy Syndrome neurons secreted 3.5 times more norepinephrine
d 2.3 times more dopamine than control neurons. Addition of a drug that
ocks the calcium channel reversed the abnormalities in cultured neurons,
ducing the proportion of catecholamine-secreting cells by 68 percent.
he findings in Timothy Syndrome patient iPSCs follow those in Rett
ndrome, another single gene disorder that often includes autism-like
mptoms. About a year ago, Alysson Muotri, Ph.D., and colleagues at
iversity of California, San Diego, reported deficits
ttp://www.eurekalert.org/pub_releases/2010-11/uoc--urc_1110410.php) in the
otrusions of neurons, called spines, that help form connections, or
napses. The Dolmetsch team's discovery of earlier (neuronal fate) and
ter (altered connectivity) defects suggest that disorders on the autism
ectrum affect multiple stages in early brain development.
Most of these abnormalities are consistent with other emerging evidence
at ASDs arise from defects in connectivity between cortex areas and show
creased size of the corpus callosum," said Dolmetsch. "Our study reveals
w these might be traceable to specific mechanisms set in motion by poor
gulation of cellular calcium. It also demonstrates that neurons derived
om iPSCs can be used to identify the cellular basis of a
urodevelopmental disorder."
he mechanisms identified in this study may become potential targets for
veloping new therapies for Timothy Syndrome and may also provide insights
to the neural basis of deficits in other forms of autism, said Dolmetsch.
he mission of the NIMH is to transform the understanding and treatment of
ntal illnesses through basic and clinical research, paving the way for
evention, recovery and cure. For more information, visit the NIMH website
ttp://www.nimh.nih.gov/index.shtml>.
bout the National Institutes of Health (NIH): NIH, the nation's medical
search agency, includes 27 Institutes and Centers and is a component of
e U.S. Department of Health and Human Services. NIH is the primary federal
ency conducting and supporting basic, clinical, and translational medical
search, and is investigating the causes, treatments, and cures for both
mmon and rare diseases. For more information about NIH and its programs,
sit <www.nih.gov>.
------------------------------------
FERENCE:
ing iPS cell-derived neurons to uncover cellular phenotypes associated
th Timothy Syndrome. Pasca SP, Portmann T, Voineagu I, Yazawa M,
cheglovitov O, Pasca AM, Cord B, Palmer TD, Chikahisa S, Seiji N,
rnstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE. November 27, 2011.
ture Medicine.
------------------------------------
e html version of this release contains images of:
a catecholamine-producing neurons at
ttp://www.nimh.nih.gov/images/news-items/dolmetsch-timothy-iPSC-catechol.j
>
a corpus collosum at:
ttp://www.nimh.nih.gov/images/news-items/dolmetsch-timothy-iPS-collosum.jp
------------------------------------------------
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