'Autistic' mice created – and treated

• 17:45 29 September 2011 by Chelsea Whyte
• For similar stories, visit the Mental Health and Genetics Topic Guides

A new strain of mice engineered to lack a gene with links to autism displays many of the hallmarks of the condition. It also responds to a drug in the same way as people with autism, which might open the way to new therapies for such people.

It's not the first mouse strain to have symptoms of autism, and previous ones have already been useful models for studying the condition. Daniel Geschwind at the University of California, Los Angeles, and colleagues tried a fresh approach, however. Rather than simply examining existing strains to identify mice with autistic-like behaviour, they engineered mice to lack a gene calledCntnap2, which had already been implicated in autism. Cntnap2 is the largest gene on the genome, clocking in at 2.5 million bases, and is responsible for regulating brain circuits involved in language and speech.

Geschwind was initially sceptical that the modified mice would display the behaviour typical of autism in humans, because the neural pathways in the two species are thought to be fairly different. "One has to be cautious," he says. "What is an autistic mouse going to look like?"

Surprisingly, he says, it turns out to be a lot like a human with autism. "Knockout" mice lacking the gene were less vocal than their genetically unaltered littermates, and less social as well. They also showed repetitive behaviour such as grooming which was "wild almost to the point of self-injury", says Geschwind. These three symptoms are the ones normally used to diagnose autism in humans.

Drugged calmer

Next, Geschwind and his team tested a drug approved by the US Food and Drug Administration to treat repetitive behaviour and aggression in people with autism. Risperidone, originally used to treat psychosis, worked on the mice in much the same way it does in humans.

The treated mice were less hyperactive, but still avoided interaction with others. "[The drug] didn't touch the social behaviours," says Geschwind. "It just normalised the repetitive behaviours."

Finally, when the researchers killed the mice and studied their brains, they found that their neurons communicate in an unusual circular way within the frontal lobe, ignoring the rest of the grey matter. This mimics the brains of people with autism.

"It's clear, based on the study, that the mouse circuitry must be significantly more parallel to humans than we thought before," says Geschwind.

Human first

"It's a very exciting result," says Bhismadev Chakrabarti, a neuroscientist at the Autism Research Centre at the University of Cambridge, who is also at the University of Reading, UK. He is impressed by the "human-first" approach. "They studied autistic patients, then they did brain studies, and then they looked at the mouse models to see if they could effect change [using known therapies]."

Chakrabarti adds that the study strengthens the link between Cntnap2 and autism. "After this paper, Cntnap2 becomes one of the top candidate genes" involved in the condition, he says.

"This opens up the avenue for a systematic battery of tests for this and other genes linked with autism," says Chakrabarti. "The interaction between genes is really the key next step that we should be looking at."

Studying the genetics of autism in this way lets researchers separate the symptoms of a disease and find drugs to treat each one. Geschwind says he and his team will next try to dissect the social circuitry of the brain, targeting their work on the development of drug treatments to improve interaction skills.

Journal reference: Cell, DOI: 10.1016/j.cell.2011.08.040

Easier meals for autistic kids

FOR parents of children with autism spectrum disorders (ASD), meal times can be challenging and stressful. Studies have shown that children with ASD can have a wide spectrum of feeding problems, including food selectivity, food sensitivity, problematic meal time behaviour and eating non-food items such as paper or clay.

But a Malaysian PhD student in the United Kingdom (UK) is developing a tool kit to help professionals identify and deal with the problems before they become entrenched habits.

Noor Safiza Mohamad Nor, who is studying at Newcastle University says: “ASDs are complex disorders and have been a major area of concern of many researchers and clinicians.

“These problems are likely to contribute to other health problems for the child, as well as having potential financial and social impacts for the families.”

Although ASD is fairly common and affects approximately 1% of the population, at present there is no standardised tool available for professionals working in the community to identify issues in a systematic way.

Noor Safiza is designing a brief questionnaire and information pack which can be used by a range of community professionals so that they can identify these problems at an early stage.

“If we can help professionals recognise the problems earlier, they can provide appropriate initial information and prompt advice for parents as soon as the problems have been recognised.

“This, we hope, will support parents who are already in a difficult position, and prevent the feeding problems and gut symptoms becoming more severe,” she says.

Her main academic supervisor Prof Ann Le Couteur, Professor of Child and Adolescent Psychiatry, says: “This project is an exciting and innovative study to develop a brief questionnaire designed to assist community professionals, including healthcare professionals and teachers, working with young children with ASD and their families.”

“This PhD study has the potential for making a very real difference for children with ASD and their families,” she adds.

Noor Safiza, who obtained an honours degree in nutrition and dietetics from Universiti Kebangsaan Malaysia, says she became interested to develop the tool kit because there is a lack of experts and specialists, especially dietitians, who deal with ASD in Malaysia.

“Many children in Malaysia now have been diagnosed with autism and I feel that I need to support these children and their families.

“I have been working with children with autism for the past eight years, and it was a great challenge for me as a healthcare professional and also the parents to manage some of the problems,” she says.

Noor Safiza currently works for the Health Ministry as a paediatric dietician, and will return to Malaysia when she finishes her PhD.

She hopes the clinical applications and research evaluation of the questionnaire and information pack that she has developed during her PhD will continue, with the eventual goal being that they become widely used in Malaysia and abroad.

“In the future, I hope to train more health professionals and teachers in this field so that they can use the tool kit as part of their practice,” she says.

Others Thoughts

Autism ~ WotsNormal

Think back to the mistakes you made throughout your life-how it would feel if they were all documented,never forgotten-Now think of your child's future and who you share your child's 'mistakes' with and whether that person is able to see your child in the correct light so the child can move on and succeed once their developmental stage(cognitive-communicative-emotional- social-etc) catches up to the expectations of others. Sad to realise too late that others saw your child as the mistake.

New hope for early autism diagnosis via brain maps

Erin Allday, Chronicle Staff Writer

Saturday, September 3, 2011

STANFORD -- The brains of autistic children have a distinctive topography that a team of Stanford scientists was able to capture using new imaging techniques, with the hope of someday creating a template for the autistic brain that could be used to diagnose kids at a very early age.
Detailed, computerized analyses of MRI scans showed a pattern of organization, especially in regions of the brain dedicated to communication and self-awareness, that was particular to children with autism, according to the new research, which was published online Friday in the journal Biological Psychiatry.
The results are still years away from being applied to children in the real world. But they could be used not just for diagnoses, but to refine treatments and offer a better understanding of how autism affects the brain.
"Older kids, you just talk to them and you know they have autism. But the 2-year-old where you don't have a good idea what's going on with him, whether he's autistic or not, this tool could help," said Dr. Antonio Hardan, a child psychiatrist and an author of the Stanford study. "And having this kind of tool might also help you determine what kind of treatment the individual will be getting."

Not easy to diagnose

Autism affects roughly 1 in 100 children in the United States, and rates have increased significantly in the past 20 years. As parents and doctors become increasingly aware of the disorder and its lifelong complications, research into diagnosing and treating autism has exploded.
Diagnosis has improved significantly, and on average, children are diagnosed at about age 3. But the diagnostic process is difficult and dependent on the skill of the doctor or therapist doing the diagnosis. It can take a full day of interviews and exams with children and their families, and many children, especially from minority or low-income families, aren't diagnosed until they are of school age.
Autism experts would prefer that most children be diagnosed well before age 3, when the disorder has already started to affect their verbal and social skills. If doctors can start treating autism before brain damage has occurred, they may be able to avoid some of the worst effects and improve the long-term outlook for children.
With that in mind, scientists around the world are hunting for biomarkers - or biological indicators - that would let doctors diagnose autism easily with a blood test or brain scan.
"Lots of people are looking for biologic fingerprints that we can use reliably to identify kids very early on, ideally before any manifestation of the disorder," said Lisa Croen, director of the Autism Research Program for Kaiser Permanente Northern California.
Croen and other Kaiser researchers are looking at other types of biomarkers, such as molecular or genetic signatures that might be found with a simple blood or saliva test. Such tests could be done on newborns or even pregnant mothers to help identify children who are at risk of developing autism.

Skeptical researcher

She's not convinced that brain scans like those studied at Stanford will be useful as a screening tool in finding children with autism, but they could someday help doctors better tailor their treatments of young patients. Autism symptoms can vary widely among patients, and often affect language, social skills and behavioral development.
The Stanford study looked at the brain scans of 24 autistic children between ages 8 and 18, and compared them with scans of 24 children without autism.
Previous studies comparing scans analyzed only the overall volume of the brain, or a large section of the brain. Those studies have shown that autistic children often have larger than average brains, but the information isn't refined enough to be useful in diagnosing or treating autism.
The new study sectioned the scans into tiny cubes and then used computer analysis to compare the size and structure of individual cubes in autistic and non-autistic brains. That allowed scientists to get a much more detailed picture of the specific areas that differ between the brains.
The resulting brain maps applied to 80 to 90 percent of the children with autism. If the maps can be replicated in a larger group of children, and in children at a younger age, they could be used to help diagnose autism.
"This is a potential biomarker, although how much of a predictive value it has remains to be investigated," said Vinod Menon, a professor of neurology and psychiatry who led the Stanford study. "In principle, it will tell you whether the individual is more likely to be on the typically developing side or the autism side."

E-mail Erin Allday at eallday@sfchronicle.com.

Autism After 16 and You

I read the and wanted to share...is this the next step in AJ's life? Can we make it to this point.

tran·si·tion (n.) movement, passage, or change from one position, state, stage, subject, concept, etc., to another; change

A simple definition, but as students with Autism Spectrum Disorder reach adolescence and enter the Transition phase of their education, there is one very important word in this definition that is often overlooked: "To". To what are they transitioning? The transition destination isn’t as simple as a single pinpoint on a map. A quick internet search on transition for students with intellectual and developmental disabilities will yield a plethora of destinations:

• To post secondary education
• To employment
• To independent living
• To service eligibility and away from service entitlement

Internet searching also leads to an overwhelming amount of information that changes daily, further complicating the definition of To. What are the best “go to” resources?  How does one best determine the efficacy of various programs and service providers?  It’s crucial to learn to weed through the emotional and provocative marketing speak and analyzing outcomes and results.

Preparation is fundamental to any plan, transition or otherwise. Common sense tells us you can’t plan a journey unless you have a destination. How can parents and care providers best define destination when student developments are unpredictable over the next three months, much less the next three years? The process of transition planning is often a paradigm shift for parents and students alike. Suddenly all the previous years’ energy and hope devoted to achieving academic gains and showing improved test scores now must focus on what happens when the testing is no longer a sufficient predictor of milestones. It’s time to start finding answers to those questions that have been lurking around the corner and have been somewhat difficult to ask, much less answer. Will he be able to live independently? Will she go to college? How long will this financial drain last? Will she be able to earn a living? What support services are available as he enters adulthood? In many ways, it’s like receiving a diagnosis all over again. Although the diagnosis may remain the same, the game plan changes significantly.

All parents are faced with some transition dilemma or another. Parents often lull themselves into  thinking  that once their child goes off to college, their work is done. However, as has often been said: The bigger the children, the bigger the problems. Families everywhere are frequently faced with an unexpected 5-Year-Plan for college. Not to mention the boomerang effect of children leaving the nest, only to return because of an unfortunate economic swing. It’s a safe assumption that every parent faces their children’s transition years with some trepidation, regardless of the children’s capabilities or limitations. But when the financial demands will likely extend beyond the immediate future, such as in the case of the student with ASD , it is essential to make a plan for the allocation of funds. This allocation plan may well need to cover a lifetime, not just a life stage. Being prepared is the best line of defense .

Transition to Postsecondary Education

As Transition planning begins, it’s not always evident what postsecondary education might look like, or if it’s even an option. Students with developmental delays often experience a developmental pop in their mid-to-late teens, making the planning process all the more difficult. The good news is that choices for postsecondary education are increasingly available to the student with ASD. The challenge becomes assessing the quality and effectiveness of offerings for this population as a whole, not to mention a particular individual with a unique learning profile.

In it’s report, Postsecondary Education Options for Students with Intellectual Disabilitie, the Institute for Community Inclusion identifies and describes several types of Postsecondary Education models for students with intellectual disabilities. Some models are segregated, while other seek to foster partial or complete inclusion with nondisabled peers. While understanding the models is one thing, trying to locate them is another. You may, after much link hopping and Googling, find a model program that seems to be an ideal match to what you're seeking. The problem then becomes that many of these programs have extremely limited enrollment capabilities and long, long waiting lists. Why, if the demand is so high for such programming, is it not more readily available?  And if you do find a program that seems to be a good fit and has openings, how do you assess whether the service provider is engaging in best practice and not simply telling families what they want to hear? It’s crucial that families learn both to ask the right questions and evaluate the answers.

Transition to Employment

In order to be self-sufficient, one must have access to income. One of the main intents of the transition plan is to eventually obtain and maintain employment.  In the 2009 report, The Current State of Services for Adults with Autism, author Peter Gerhardt notes that, "Outcome studies of adults with ASD document that, independent of current ability levels, the vast majority of adults with ASD are either unemployed or underemployed."  But a job alone may not be enough. Is the individual appropriately employed for his or her skill level? Are the hours worked per week determined by the employee’s capacity or the employer’s comfort level? While being offered a job is often cause for celebration, opportunity only truly exists when the job is a good match and appropriate supports are in place. As Gerhardt also points out in the report,  “…(T)he potential of individuals with ASD to become employed and engaged adults is limited more by the failure of the systems charged with supporting them than by the challenges associated with being on the spectrum."

As the ASD adult transitions out of public education and into adult services, the delivery of services becomes an entirely new terrain. Gone are the days of entitlement to service. The onus lies with the individual and the family to establish eligibility for service and find service providers. The availability of service providers offering employment support varies by state. Some large corporations are taking the initiative in recruiting individuals with special needs, and receive tax incentives for doing so. Of course tax law changes from year to year, so what’s available today, may not be tomorrow.

As with postsecondary education options, there are many types of employment models with varying degrees of support.  Options range from segregated employment—typically referred to as a sheltered workshop—to  constant or intermittent oversight by a job coach, to working fully independently alongside nondisabled peers. Understanding options will help immeasurably in drafting transition plans and working with school and vocational personnel.

Transition to Independent Living

In addition to thinking about postsecondary education and employment options, families of teens and young adults with ASD must consider future living arrangements. How, where, and with whom is the young adult with ASD going to live? Many adults with autism continue to live with family members. Are you, your child’s siblings or extended family members adequately prepared for such an arrangement? If living at home isn’t in the best interest of either the adult with ASD or the family, then examining housing options are a must. In addition, it’s crucial to include the development of independent living skills in transition planning. The focus of this skill development should be extremely individualized.

Transition to Eligibility for Adult Support Services 

Parents and service providers of the ASD student are all too familiar with the right to a free and appropriate education. As a student exits public education and transitions to the next life stage, what once was a question of entitlement becomes a question of eligibility. Under the Individuals with Disabilities Education Act (IDEA), students with disabilities are entitled to services until they either graduate with a regular diploma or age out of the system at age 21. Once the young adult with ASD leaves the public school system, the same right to services doesn’t exist. Adult services are accessed by being found eligible for benefits. Eligibilty varies from program to program and from state to state. Simply having an autism spectrum diagnosis does not guarantee adult services. Actions taken during the transition planning stages can impact availability of supports when school days are over.

It’s All About the IEP

According to attorney Wayne Steedman of Callegary and Steedman, PA, it is critical that parents pay very close attention to the transition plan in their child’s Individualized Education Plan (IEP). Transition goals and objectives are required by law to have the same format and measurability as academic goals. Formal assessments must be conducted to determine an appropriate transition plan. Parents need to carefully assess the IEP to ensure that these requirements are met. And once IEP transition goals have been written, appropriate services must be added to achieve them. Schools may utilize outside service providers if necessary, and the school transition specialist can help arrange for a state  Vocational Rehabilitation (VR) counselor attend IEP meetings.

Amy Alvord, Transition Specialist at Ivymount School in Maryland,  notes that the biggest mistake parents make during the transition years is twofold: Planning isn’t started early enough, and generalizing what the student is learning at school isn’t done at home or in the community. It is crucial for students to learn self-management skills if they are to be successful at living independently. It is also important for the student to develop what Alvord refers to as “self -disclosure.” This means that the student is able answer questions such as “What’s hard for you?” and “What helps you?” in a clear manner that can be generalized in the community.

Parents and students must be active participants in transition planning, and begin the process as early as possible. While IEP meetings might seem like old hat, families must refocus energies to make these legal documents meaningful. There’s much more to exiting the school system than planning a graduation party. Transition for a student with ASD might be better defined as an evolutionary process:

ev·o·lu·tion (n.)  A gradual process in which something changes into a different and usually more complex or better form.

What are autism spectrum disorders?

Autism spectrum disorders (ASDs) are a group of developmental disabilities caused by a problem with the
brain. Scientists do not know yet exactly what causes this problem. ASDs can impact a person’s functioning at different levels, from very mildly to severely.  There is usually nothing about how a person with an ASD looks that sets them apart from other people, but they may communicate, interact, behave, and learn in ways that are different from most people.  The thinking and learning abilities of people with ASDs can vary – from
gifted to severely challenged. Autistic disorder is the most commonly known type of ASD, but there are others, including “pervasive developmental disorder-not otherwise specified” (PDD-NOS) and Asperger Syndrome.

What are some of the signs of ASDs? 


People with ASDs may have problems with social, emotional, and communication skills. They might repeat
certain behaviors and might not want change in their daily activities. Many people with ASDs also have
different ways of learning, paying attention, or reacting to things. ASDs begin during early childhood and last
throughout a person’s life.

A child or adult with an ASD might:
■ not play “pretend” games (pretend to “feed” a doll)
■ not point at objects to show interest (point at an airplane flying over)
■ not look at objects when another person points at them
■ have trouble relating to others or not have an interest in other people at all
■ avoid eye contact and want to be alone
■ have trouble understanding other people’s feelings or talking about their own feelings
■ prefer not to be held or cuddled or might cuddle only when they want to
■ appear to be unaware when other people talk to them but respond to other sounds
■ be very interested in people, but not know how to talk, play, or relate to them
■ repeat or echo words or phrases said to them, or repeat words or phrases in place of normal language (echolalia)
■ have trouble expressing their needs using typical words or motions
■ repeat actions over and over again
■ have trouble adapting when a routine changes
■ have unusual reactions to the way things smell, taste, look, feel, or sound
■ lose skills they once had (for instance, stop saying words they were using)

What can I do if I think my child has an ASD? 


Talk with your child’s doctor or nurse.  If you or your doctor think there could be a problem, ask for a referral to see a developmental pediatrician or other specialist, or you can contact your local early intervention agency (for children under 3) or public school (for children 3 and older). To find out who to speak to in your area, you can contact the National Information Center for Children and Youth with Disabilities (NICHCY) by logging onto www.nichcy.org or call 1-800-695-0285. In addition, the Centers for Disease Control and Prevention (CDC) has links to information for families on their Autism Information Center Web page (www.cdc.gov/ncbddd/dd/aic/resources). Right now, the main research-based treatment for ASDs is intensive structured teaching of skills, often called behavioral intervention.  It is very important to begin this intervention as early as possible in order to help your child reach his or her full potential. Acting early can make a real difference!

1-800-CDC-INFO    www.cdc.gov/actearly

THIS IS A STORY I FOUND AND WANTED TO SHARE, DON'T JUDGE JUST TRY TO UNDERSTAND:

Whenever I am invited to a party or a place where there are other children I always try to make sure that I am SUPER prepared for the event. Now  one may think what is the definition of SUPER prepared? Well first there is the mental preparation, all the things that you know will happen but is still awkward....like your child rolling a car on the table instead of playing and interacting with the other children. In your world that is the norm but to  everyone else that instantly is a conversation piece. So in that you have to prepare mentally for the round table discussion, followed by questions. So that's okay but then there are the things that may happen that you never would have thought could happen and that is where mental preparation is needed. Secondly you must be armed with your child's motivation bag, and in this bag are all the simple things you use to encourage good behavior and to prevent embarrassing melt downs. Finally there are all the details of preparation for the party, getting dressed, brushing teeth, transitioning from the house to the car, holding hands to walk to the party, adjusting to new people, sounds, and action at the party, whew.......I get exhausted just thinking of it but in these examples you can see just why I call it SUPER prepared. Now that I have you in the frame of mind of the struggles that are always present now let's proceed. Remember how I said that there are things that you know are going to happen, and things that you never thought  would happen.......well those things are how I came up with the title of this post, "Stares & Awkward Smiles."  Well at the party that I really just had all planned out had a slight bit of unexpectedness. It was the end of the party and the children were very excited 

to  have sung  the birthday song and now it was time for yummy cake and ice cream. Everyone received their cupcake and just began to eat and smile and laugh. Well  Raymond had another idea in mind........... 

He decided that he wanted to smear icing on himself and then make shapes in the icing........too funny right!?

Well this could have been done by any typical two year old right......right! But because none of the other children were doing that and he was already involved in a round table discussion about Autism there were many Stares & Awkward Smiles.  So in conclusion I just cleaned him up said Uh-OH and we went on with our day. There will be people who don't understand and as long as I am his mother I will always be sure that the people in my life WILL! I will always be a voice for the Autistic child. For they are very different but NOT LESS!!!!!!

I HAVE LIVED THIS MOMENT BEFORE AND LIKE THIS MOTHER...I WILL BE THE VOICE FOR AUTISTIC CHILDREN.

http://www.facebook.com/l.php?u=http%3A%2F%2Fautismsupportnetwork.leveragesoftware.com%2Fblog_post_view.aspx%3FBlogPostID%3D313435352e4f4bb6a04c6b61e36a8057&h=BAQCR39f6AQCWLaAxKHf8Y1mc7CaburyvGTMGGMUhs0pUDQ

This story reminded me of my Apple Jacks and I'm sure some of your kids too.

Gimme a break, literally!

Our daughter Tess (who has been diagnosed with PDD) is in the 3rd grade. Tess is currently in a public elementary school and starts her day in a self-contained classroom. She then goes to inclusive classes for her academic and special subjects.

I remember when we thought it was a “great day” when Tess would stay in the classroom as long as the other “typical” kids.  We would praise her if she was able to stick it out for the full hour or more.   Some days she could and some days she couldn’t.  But, as the work got more challenging, so did her behavior in class and she needed to leave the room more frequently.

Tess also realized that her negative behaviors did the trick!  It got her out of doing the work.  Finally, after trying different reward systems and anything else we could think of, her therapists and teachers thought what Tess really needed was a way to take breaks, but not escape the assignments. We also felt that the breaks needed to be filled with desirable activities. It gives her something fun to work toward in class!   We added more “built-in” breaks for specific classes (in her case, Reading and Math) because those classes really make her anxious.

The plan is this: Tess knows she has these “built-in” breaks coming. She knows when they are and she knows how long they last. They last 3-5 minutes, at the same time of day, at least four times a day.  Tess is allowed some control in how she wants to spend her break time.

The other key component to this plan is to chart her behavior.  We use computer programs that help the teachers and therapists keep track of the data and put it into charts. These show us patterns and tell us if the plan is having the desired effect. It definitely keeps us going in the right direction. The system is not getting rid of Tess’ anxieties and there are variables (such as a snow delay which throws off the whole schedule) that can affect the outcome, but we are seeing lots of progress.  So far, the data is showing us that Tess has improved the amount and the quality of her time in the classroom by having regularly scheduled breaks built into her day and that’s great news.

The other part of the equation is to make the breaks fun so it gives Tess the motivation to complete a certain amount of work in class. She always gets a break, but if she meets her goals then she gets a “preferred” break. We really tried to think outside the box for this one by adding choices of playing a Nintendo DS game to blowing bubbles to allowing Tess to text mom or dad and receive a message back. She even made a short movie at her locker using our Flip camera.

Tess still gets anxious about school as do many children with Autism Spectrum Disorders. She struggles with communication delays and processing speed. She does, however, look forward to these breaks…and most of the time they are her incentive to get the work done with a more positive attitude.

Our family thanks the staff at The Chatsworth School, a Baltimore County public school, Toria Campbell, Tess’ aide and the therapists at The Shafer Center for Early Intervention in Reisterstown, Maryland.

http://www.reallookautism.com/