AUTISM SPECTRUM DISORDER

Autism spectrum disorder (ASD) and autism are both general terms for a group of complex
disorders of brain development. These disorders are characterized, in varying degrees, by
difficulties in social interaction, verbal and nonverbal communication and repetitive
behaviours. ASD can be associated with intellectual disability, difficulties in motor
coordination and attention and physical health issues such as sleep and gastrointestinal
disturbances. Some persons with ASD excel in visual skills, music, math and art.
Autism appears to have its roots in very early brain development. However, the most obvious
signs of autism and symptoms of autism tend to emerge between 2 and 3 years of age.
RECENT DEVELOPMENTS ON AUTISM

Autism gene mutation that slows brain activity uncovered

Researchers from McMaster University in Canada believe they may be one
step closer to the development of drugs that could combat autism at its root, after
identifying how mutations in a gene called DIXDC1 impair the growth of synapses
and impede brain activity.
For their study, lead investigator Karun Singh - of the Stem Cell and Cancer
Research Institute (SCCRI) and Michael G. DeGroote School of Medicine at
McMaster - and colleagues conducted a genetic analysis of individuals with autism. In
a subset of people with the disorder, the researchers identified abnormalities in the
DIXDC1 gene that stop the DIXDC1 protein from instructing brain cells to form
synapses. In detail, the researchers found that some individuals with autism possess
mutations that cause the DIXDC1 gene to be "switched off," meaning synapses
remain immature and brain activity is reduced.
While the DIXDC1 gene mutation is only found in a small number of
individuals with autism and psychiatric disorders associated with the condition, the
team notes that there are a number of other autism-related gene mutations that impair
synaptic development

New study links autism to mutations in mitochondrial DNA

Scientists are closing in on the genetic cause of autism, with the latest research
pinpointing mutations in DNA inherited from the mother. A team at Cornell
University analysed DNA belonging to 903 children on the autism spectrum, and
compared it with DNA from their unaffected siblings.
Children with autism had twice the number of potentially harmful mutations in their
mitochondrial DNA than their siblings. Mitochondrial DNA mutates about 10 times
faster than nuclear DNA."Because mitochondria play a central role in metabolism,
these findings may help explain the metabolic disorders commonly associated with
autism spectrum disorder and other neurodevelopment disorders," says Dr Gu,
including epilepsy and problems with their organs, such as their liver or kidneys.
Not all mitochondrial mutations are inherited from the mother though - they
can happen spontaneously as the child grows up, thanks to the higher mutation rate.
Dr Gu hopes the findings will lead to new treatments for autism that focus on
mitochondrial DNA.

Acetaminophen use in pregnancy linked to autism, ADHD in offspring

Lead author Claudia Avella-Garcia, a researcher at CREAL, and colleagues set
out to further investigate the association between acetaminophen use in pregnancy
and ADHD among offspring, as well as determine whether there might be a link
with autism.
The team enrolled 2,644 expectant mothers to their study. At 12 and 32 weeks
of pregnancy, the women completed a questionnaire, in which they were asked
whether they had used acetaminophen in the month prior to becoming pregnant or
during their pregnancy.
The researchers found that 43 percent of the children assessed at the age of 1
and 41 percent of those assessed at age 5 were born to mothers who used
acetaminophen in the first 32 weeks of pregnancy. Compared with children born to
mothers who did not take acetaminophen during pregnancy, the researchers found that
those whose mothers used acetaminophen in the first 32 weeks of pregnancy were 30
percent more likely at age 5 to have attention impairments, often found in children
with autism or ADHD.

Children prenatally exposed to acetaminophen were also more likely to have

symptoms of hyperactivity or impulsivity at the age of 5. Those who had been
persistently exposed to the drug performed worse on tests of attention, impulsivity,
and visual speed processing. Furthermore, the researchers found boys with prenatal
acetaminophen exposure were more likely to have clinical symptoms of autism than
non-exposed boys, and the incidence of such symptoms increased with persistent
exposure to the drug.
This finding, the team says, could explain why boys are much more likely to
develop autism than girls.

Recent advances in autism research

New research suggests that it may one day be possible to identify infants at
risk for autism before the onset of observable symptoms. Researchers found
distinctive differences in brain communication pathways in infants who went on to
develop autism spectrum disorder (ASD). These differences appeared as early as 6
months and continued through 2 years of age. The researchers used a special type of
magnetic resonance imaging (MRI), called diffusion tensor imaging, to record threedimensional snapshots of brain development at 6, 12 and 24 months of age.
Infants who went on to develop autism showed differences in white-matter
development compared to those who did not. White matter reflects the wiring in the
brain that allows one part of the brain to communicate efficiently with another part
and is important for complex behaviours such as language and social interaction.
While its too early to tell whether some form of MRI could be used clinically to
identify children at risk for ASD in early infancy, the findings could guide the
development of better tools for predicting risk and perhaps for measuring whether an
early intervention therapy is improving underlying brain biology.
A recent clinical trial of patients with fragile X syndrome suggests that a drug
called arbaclofen could become the first medicine to treat autisms core symptoms of
social-communication disability and repetitive behaviours. The study enrolled 63
children and adults with fragile X syndrome. Many but not all had the additional
diagnosis of ASD (around one-third of individuals with fragile X also have ASD).

When the investigators looked only at participants with severe social impairment, they
found that arbaclofen produced significant reductions in social avoidance and overall
improvement in social functioning. Current studies are examining the effects of
arbaclofen on social behaviour of individuals with autism spectrum disorders.
Researchers delivered compelling evidence this year that an intensive early
intervention program for toddlers with autism not only improves social and
communication skills, but also improves brain activity related to social
responsiveness.
Many different researches are being conducted and are in the process to find
the causes of autism and developing new interventions and strategies for autism.