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Posts Tagged ‘Got Questions?’

Are you finding that autism is increasing at the same/similar pace worldwide? I’ve read about pockets of increased autism in Silicon Valley, CA for example. Wondering if there’s data on a global rate of autism?

December 21, 2010 1 comment

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

While we are seeing converging evidence in the research literature showing that autism prevalence is about 1% in developed countries such as the US and UK, there has yet to be published data on prevalence in low and middle income countries. Autism Speaks is actively trying to change that by funding epidemiologic research of autism prevalence in a number of low and middle income countries around the world including South Korea, Taiwan, Bangladesh, India, and South Africa. Conducting studies in countries where socio-cultural, environmental, and genetic factors may differ from those in the US can allow researchers to compare prevalence rates and examine how those factors may contribute to autism risk.

Is oxytocin a safe treatment for autism?

December 7, 2010 1 comment

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

The hormone oxytocin is believed to play a role in social bonding and affiliation.  Researchers using animal studies have shown that oxytocin released in the brain regulates social recognition, social memory, mother-infant and male-female bonding, and other aspects of attachment.  Because social impairments are one of its most consistent features of autism, a number of scientists have hypothesized that abnormal oxytocin function might play a role in autism spectrum disorders (ASD).

The data regarding whether individuals with ASD have changes in oxytocin signaling are somewhat mixed.  A few studies have found children with ASD have lower average levels of blood oxytocin in comparison to typically developing children matched for age. Several  genetic studies have found associations between autism and specific forms of the gene for the oxytocin receptor.  Recently, it was reported that post-mortem brain tissue from individuals with ASD showed lower levels of gene expression for the oxytocin receptor when compared to age/gender matched comparison individuals.

So far only a few studies have examined the effect of administering oxytocin in human beings.  The data suggest that administration of oxytocin, either nasally or intravenously, positively impacts human social behavior.  For instance, recent studies with typical individuals show that giving oxytocin can increase gaze to the eye region of human faces, increase memory for faces, and improve the ability of people to infer the mental states of others (known as Theory of Mind).  All of these are challenges that have been associated with autism.

Given the lack of pharmacologic treatments for social deficits and the possibility of dysregulated oxytocin signaling in autism, many have proposed oxytocin as a treatment for ASD.  These studies are just beginning.  The three reports published so far have suggested that a single dose of oxytocin can temporarily improve social cognition in adults and, in one study, teenagers, with ASD.  In a pilot placebo-controlled study, researchers found that twice daily oxytocin in adults with autism resulted in some improvements in social function and quality of life and reductions in certain types of repetitive behaviorsThe data are very preliminary and larger follow-up studies are now underway.

Together these first studies support a potential role of oxytocin in ASD and suggest oxytocin could have therapeutic benefits for the treatment of ASD symptoms in adults, especially in the area of social functioning.  It is important to note that there are currently no published safety or efficacy data for oxytocin in children.

Autism Speaks is funding research to better understanding the role of oxytocin in ASD.  More information on clinical trials for oxytocin as a treatment for ASD can be found at www.clinicaltrials.gov.

What is epigenetics? Does this new field hold promise for understanding the causes of ASD?

November 19, 2010 9 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Scientists have long wondered how experiences during a person’s lifetime can alter behavior and body functioning.  In the early 1800’s Jean Batiste Lamarck suggested that giraffes’ necks grew long through many generations of stretching to reach distant leaves.  That theory eventually fell to evolution–pressures from the environment selectively amplify or quiet certain traits that are variably present within a population. Later, the DNA code was found to be the mechanism for inheritance and the level at which selective pressure acts.

Today’s scientists see hints of Lamark as they peer into the molecular biology of inheritance.

Consider DNA to be a library of books that encode genes. These “genetic books” must be read so that proteins can be formed from the code.  Some genetic books are open and available for reading by the cell’s molecular machinery.  Others maybe temporarily unavailable and still others are in the restricted section—essentially permanently unreadable.

Experiences throughout an individual’s life create tags on the genetic code, marking it as available or not for reading. The molecular methods that control the availability of the genetic code are collectively referred to as epigenetic mechanisms. Literally meaning “above the genome”, epigenetic mechanisms tag DNA with different chemical marks, such as methyl or acetyl groups.  Certain tags can increase the reading frequency, resulting in more protein building-blocks transcribed from the DNA code, and more of that gene “expressed”.  Other tags result in a particular piece of the genetic code to be skipped during reading.

A host of environmental agents and interactions may leave epigenetic marks on the genome.  Early life stress, smoking, exposure to toxins may all leave epigenetic marks either creating or removing barriers for protein creation.

Here is where Lamark comes in.  Most epigenetic marks are removed before the sperm and egg meet to form an embryo, but sometimes, epigenetic marks remain.  This is one mechanism by which environmental exposures can be passed along from parent to child.

The study of epigenetics and gene expression in autism is underway and early findings are exciting.  Some of the genetic syndromes associated with autism, such as Angelman and Prader-Willi syndrome, result from epigenetic marks that render one parent’s genetic contributions unreadable.  Recently, gene expression studies from the blood and even brain tissue of individuals with autism have shown differences in the activity of patterns of genes that are involved in brain development and function.

This is an exciting area of research and we look forward to sharing more details as we learn more from the science.

Read more about epigenetics on or blog.

My child is nonverbal – what are some intervention methods that might help my child communicate better?

October 29, 2010 11 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and will address the other themes we received in this weekly post.

Many individuals with autism do not use spoken language to communicate.  It is estimated that approximately 25% of individuals with ASD are nonverbal.  Despite early traditional approaches such as speech, occupational and behavioral therapy, some children still remain unable to communicate their wants and needs.  A recent study found that some children with ASD do not develop spoken language until after the age 5 years.  On-going speech and language intervention can promote the development of speech in nonverbal children who are of school age.  In addition, there exist specific intervention approaches that can be helpful for some individuals, such as PROMPT, an intervention approach especially designed for children with motor-speech disorders.

Speech and language specialists recommend a variety of alternative and augmentative communication (AAC) devices for individuals who are nonverbal.  A commonly used system is the PECS picture exchange system (PECS).   PECS has been used with individuals with ASD of all ages.  One advantage is that it doesn’t require expensive materials, relying on a set of picture symbols that can be used to make simple or complex requests and other statements.  The symbols are typically placed in a communication book.  After the child or adult learned to make spontaneous requests.  The individual can then learn to construct sentences.  . Other AAC methods include the following:

  • Gestures and sign language
  • Pencil and paper
  • Communication books or boards
  • Keyboards and other electronic devices

The iPhone and iPad are being used as ACC devices. These new interactive technologies have invited a wave of new applications to benefit individuals on the spectrum, especially those who are nonverbal.  Many of these applications incorporate the advantages of the PECS system of offering a stock of visual images as well as the ability to personalize using one’s own images.  Two of the most popular programs are Proloquo2go and iPrompts.

Although the use of these devices have not been tested in rigorous clinical trials, those trials are underway and early anecdotal reports are positive.  Connie Kasari, PhD. (UCLA) leads an Autism Speaks’ funded clinical trial comparing two different interventions for young nonverbal individuals.  Having previously used traditional keyboarding devices, Dr. Kasari has found that the iPad with speech generating software offers a great alternative to expensive AAC speech generating devices.  However Dr. Kasari also adds, that these devices “Work best in therapy sessions with a child who has not yet figured out that they can surf the web with it, too!”

Of course, this potential distraction is also an advantage. These new applications  are hosted on the multifunctional iPhone and iPad platforms.  HandHoldAdaptive, the creators of iPrompts, have launched AutismTrack, a new portable journaling tool that enables caregivers to track therapies, medication and behavior.  Developers continue to create new apps to address the challenges of those on the spectrum, making these new tools even more powerful for managing the everyday needs and desires for individuals on the spectrum.

Read a blog from Dr. Kasari about nonverbal autism and more information about Autism Speaks investments in nonverbal autism.   For more information about ACC, the following websites may be useful:

ACC Institute:   http://www.aacinstitute.org/

International Society for Augmentative and Alternate Communication

To locate a speech-language pathologist, visit http://www.asha.org/findpro/default.htm

What is the recurrence rate of autism spectrum disorder (ASD) in siblings of children with ASD?

October 13, 2010 6 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind.

Studies of sibling recurrence done in the past decades usually reported between 2-6% of younger siblings of children with autism were eventually diagnosed with autism.  However, it was thought that these numbers may be an underestimate, because they included low numbers of families and looked at just autism in the child and the younger sibling.

Because of the elevated risk of autism in younger siblings, new research designs have allowed for prospective, longitudinal research of individuals “at risk” for autism – that is they have an older sibling with an autism diagnosis.  Autism Speaks supports a consortium of these researchers known as the High Risk Baby Siblings Research Consortium or BSRC.  Using this design, the recurrence of autism as well as other disorders, including language problems, can be ascertained.  Recent reports have indicated that about 10-15% of younger siblings of children with autism are diagnosed with an ASD.  In addition,, a recently published study by a BSRC investigator working together with the Interactive Autism Network (IAN) found that 20% of siblings (without ASD) had delayed language development.   Together, this adds to evidence that autism and related developmental delays in language have a genetic component.  It is important to keep in mind that the information about ASD recurrence risk rates cited in this article are based on population-based statistics. The ASD recurrence risk rates for individual families vary.

Parents with who have a child with ASD who are concerned that a sibling may be showing symptoms of ASD should bring their concerns to their pediatrician or primary health care provider.  Other resources include the following:

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