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Autisme, intellectual disability studied dalam
pencarian untuk pendekatan pengobatan baru
Kolaborasi pada perawatan sindrom genetik langka bisa mengungkapkan
biologi/shared biology spektrum gangguan
autisme, para ilmuwan melaporkan dalam sebuah artikel baru. A new American-wide effort akan menghubungkan keluarga dan spesialis yang tersebar di seluruh negeri
dalam sebuah studi yang dapat memberikan gambar yang solid dari tiga penyakit
langka yang antara pengaruh yang sangat buruk lainnya, dapat menyebabkan ASD
dan ID....read more
...........................
Autism,
intellectual disability studied in quest for new treatment approaches
Date:
December 18, 2014
Source:
Rush University
Medical Center
Summary:
Collaboration on
treatments of rare genetic syndromes could reveal a shared biology of autism
spectrum disorders, scientists report in a new article. A new American-wide
effort will link families and specialists scattered across the country in a
study that could provide solid pictures of three rare diseases that, among
other devastating effects, can cause ASD and ID.
.........................
some of the genetic
diseases that can cause autism spectrum disorder (ASD) and intellectual
disability (ID) are so rare that even physicians who specialize in treating
them can't be certain they have seen every possible symptom.
That's a problem for those clinicians, and it also makes it difficult to
design interventions in hopes of improving the lives of people who live with
the diseases.
But a new nationwide effort, the Developmental Synaptopathies Consortium
(DSC), which includes Rush and other top medical centers, is seeking to change
that. The DSC will link families and specialists scattered across the country
in a study that could provide solid pictures of three rare diseases that, among
other devastating effects, can cause ASD and ID.
The DSC will carry out the five-year study at 10 medical centers, enlisting
a total of 330 children ages 3 to 21 to develop a "natural history"
of the progression of the diseases -- tuberous sclerosis complex,
Phelan-McDermid Syndrome and PTEN Hamartoma Tumor Syndrome. These three rare
genetic diseases all disrupt the formation of synapses in the brain.
Rush Pediatric Neurologist Dr. Elizabeth Berry-Kravis and Clinical
Psychologist Latha Soorya,PhD, will be co-investigators in the study at Rush..
The National Institutes of Health has pledged $6 million to the consortium
through its Rare Diseases Clinical Research Network (RDCRN), and will also
participate as a member. Dr. Mustafa Sahin, at Boston Children's Hospital, will
serve as the consortium's director.
The study will ask, "What would a group of 330 patients look like as
the years go by? We will be able to see the trajectory of these diseases,"
says Berry-Kravis.
As drugs to combat the conditions become available -- and some are already
in the pipeline -- a new question will be added, "Would the cohort look
different with a drug [that addresses the disease]? The long-term hope is to
come up with a treatment," . Berry-Kravis says.
ASD has many causes, only some of which are known at this point, but
genetics is key. Hundreds of genes in the human body can mutate in ways that
can contribute to ASD, a condition that presents in varying degrees of
severity. ASD's two defining characteristics are difficulties with social
interaction, a tendency to engage in repetitive behaviors and restricted
interests. Research has shown that environmental factors probably also
contribute.
A major distraction in autism research came in 1998, when the British
medical journalThe Lancet published a study that appeared to
establish certain vaccines as a cause of autism. That paper was later found to
be deeply flawed and possibly fraudulent, withdrawn by The Lancet,
and repudiated by 10 of its 13 authors, but belief in a link between vaccines
and autism has persisted in the public mind.
ASD affects about 1 in 68 children, according to the latest figures from
the Centers for Disease Control and Prevention. The previous figure had been 1
in 88 children. Autism is not becoming more common, though, Soorya says. The
latest statistical increase came from better diagnosis in previously
under-diagnosed ethnic groups, she says.
About 40 percent of people with ASD have average to above-average
intelligence, while others have severe disabilities and are not able to live
independently. ASD is five times more common in boys than in girls.
"The general theory is that autism is often related to a person's
genetic background," says Berry-Kravis. "With neurobiology and
genetics, a lot depends on how much proneness you inherit." Single-gene
defects can cause autism, but "multiple-gene inheritance" is also
common. "For example If you inherit three [damaged] autism risk genes, you
may be a little socially awkward, perhaps have some problems with language and
communication. With five problem genes, you may have autism. The effect can be
additive," she says.
For example, the Shank3 gene is important to the development of the human
nervous system, and Shank3 mutations, like the ones that cause Phelan-McDermid
Syndrome, have a high correlation with ASD. Hundreds of people have been diagnosed
with Phelan-McDermid Syndrome, but researchers suspect many more may actually
have the disease, Soorya says. The consortium approach will raise awareness and
provide medical homes for patients to see clinicians knowledgeable about the
condition.
"That natural history is the primary goal of this network. We want to
know the best way to assess and treat these kids over time," says Soorya.
But treatment is also a long-term goal. Once researchers establish the
characteristics and trajectory of Phelan-McDermid Syndrome, for example, in a
substantial population, that information will help them understand changes that
might occur in patients during trials of new medications targeted to the brain
mechanisms impacted by the disease.
Disturbances in the mTor-related signaling pathways are known to occur in
all three of the diseases the consortium will address. The three diseases
"may not all have the same full repertoire of affected pathways, but this
is one pathway common to all three conditions," Berry-Kravis says.
Researchers know that the drug rapamycin inhibits activity in the mTor pathway,
and early trials in humans with tuberous sclerosis complex are already under
way, she says.
"One way to understand it is this: Study the disease [in the affected
population], see the symptoms, and go back and ask, 'What is the abnormal gene
doing to cause the problem?'" Then correct the dysfunctional activity with
a drug to see if the treatment relieves the symptoms, Berry-Kravis says.
Soorya adds, "We'll learn from the biology what is impaired, and build
interventions." Not all those interventions will necessarily be
pharmacological, Soorya says; her background is in behavioral approaches to
treating autism. Indeed, at Rush's Autism Assessment, Research, Treatment and Services
Center (AARTS Center) specialists offer comprehensive assessment and treatment
of children, adolescents and adults with autism spectrum disorder. "We'll
help people define the disorder, and develop clinical practice standards with
these kids." Combinations of pharmacological and training or learning
interventions are likely to be the best approach to treating these diseases in
the future.
Enrollment in the study is expected to begin in spring of 2015 -- 90
patients with Phelan-McDermid Syndrome, 100 with tuberous sclerosis, and 140
with PTEN mutations. In addition to Rush, NIH and Boston Children's Hospital,
the consortium will include Cincinnati Children's Hospital Medical Center,
Cleveland Clinic, Icahn School of Medicine at Mount Sinai Hospital in New York,
Stanford University in Palo Alto, Cal., University of Alabama at Birmingham,
University of California at Los Angeles, and the University of Texas at
Houston.
The NIH announced last month that Rush will also participate in a second
RDCRN consortium, this one to focus on Rett Syndrome, a mostly non-inherited
genetic disease caused by spontaneous mutations in a gene called MECP2, that
impair formation and function of synapses and cause problems with motor control
and intellectual functioning in girls.
Story Source:
The above story is based on materials provided by Rush
University Medical Center.Note: Materials may be edited for content and length.
