A number of genes are believed to be involved in autism, but so far there have
been only mixed results in the effort to identify them.
The reason for
this is that autism is influenced by many different genes, and different genes
are involved in different individuals, making it hard to find the common genetic
ground between patients.
Now, research conducted at the Hebrew University
has shown that despite this, the various genes that play a part in autism all
tend to be involved in specific processes in the brain.
conducted by Dr. Sagiv Shifman and his doctoral student Eyal Ben-David at HU’s
genetics department, has potential implications for early diagnosis and for
future treatment of autism, and was published in the journal PLoS
Autism spectrum disorders are neurodevelopmental syndromes
characterized by social deficits, language impairments and repetitive behaviors.
Recent studies indicate that autism is considerably more common than previously
supposed, with a prevalence rate as high as one percent in some
Boys are more likely to have it than girls.
The main goal
of the project was to test the contribution of rare genetic mutations, as well
as the genetic variations common in the population and to see whether these
genetic risk factors are related.
Instead of testing individual genes,
the researchers chose to study gene collections, in an attempt to understand the
general pathways involved in autism.
To that end, the scientists
constructed a network based on the expression pattern of genes across different
brain areas. This allowed them to discover groups of genes with shared function
in the brain.
Next, based on genetic data from thousands of families with
autistic children, the researchers studied the contribution of different groups
of genes to autism.
To their surprise, they found – when looking at
mutations found in autism as well as thousands of common gene variants that are
more frequently seen in autistics – that these mutations and variations are
located in specific functional groups.
When looking at families with only
one autistic individual (sporadic cases) and in families where there is more
than one affected individual (multiplex cases), the same variants were seen
acting in both cases. These groups of genes are highly active in the first year
of life, and are involved in processes of learning, memory and sensory
The researchers believe their work could pave the way for
large-scale genetic scans in the future that could lead to early diagnosis of
autism. The results of their study may also provide a ray of hope that by
concentrating on specific gene groups, it will one day be possible to design
drugs for alleviating symptoms in autistic people with different genetic
Sleep apnea, in which people stop
breathing momentarily many times a night because of obstructions in their
respiratory system, is a serious business. It can be relieved by continuous
positive airway pressure (CPAP) devices, which are quite expensive but very
effective. Research at Ben-Gurion University of the Negev and Soroka University
Medical Center in Beersheba has found that cost deters many people from getting
help, as the devices are not paid for by the health funds. The study by Profs.
Ariel Tarasiuk and Haim Reuveni and colleagues was recently published in the
journal PloS One.
As a matter of health policy, they recommend financial
incentives to encourage CPAP treatment, especially among vulnerable populations.
Such a policy would prioritize out-of-pocket expenditures based on service value
and not its cost.
“Implementation of a value-based insurance strategy for
CPAP treatment would prioritize high-value care based on its potential clinical
and economic benefit,” the two argue.
The disorder, which affects two to
nine percent of the adult population, can lead to significant cardiovascular
morbidity and mortality. If used on a regular basis, CPAP can effectively
decrease daytime sleepiness; reduce cardiovascular morbidity, improve quality of
life and reduce health care costs.
Yet many patients, mainly of lower
socioeconomic status, do not purchase the CPAP device if the healthcare system
requires high cost sharing, they write. Cost sharing is an accepted
expenditure-control strategy. It reduces consumer demand for health care
services in every health care system studied.
Here, according to the
National Health Insurance Law, CPAP treatment requires a mandatory out-of-pocket
copayment, ranging from 25% to 50% ($330 to $660) of the cost of a CPAP device
(average cost of the device is $1,320), depending on the patient’s supplementary
health insurance coverage.
Financial incentive polices in the health care
system have been proposed as a strategy to promote high-value health care as in
the case of CPAP treatment based on the potential for clinical benefit and to
minimize the health risk of not treating with CPAP.