Search This Blog

Monday, December 31, 2012

Auld Lang Syne




















May 2013 Be Healthy, Happy, Progressive and Prosperous,
for ALL!

Saturday, December 29, 2012

New Rules Allow Joint Diagnoses of Autism, Attention Deficit

From SFARI - The Simons Foundation Autism Research Initiative

By Madeleine Johnson
October 25, 2012

"...removing the restriction on a dual diagnosis of autism and ADHD appears to be universally endorsed. 'This announcement has generated applause at Autism Society meetings, which is pretty extraordinary.'”

Double trouble: Forcing clinicians to choose between a diagnosis of autism or attention deficit hyperactivity disorder may prevent children who have both disorders from receiving the treatment they need.

About 30 percent of children with autism have symptoms of attention deficit hyperactivity disorder (ADHD), but under current diagnostic guidelines they can only be diagnosed with one or the other1. That’s about to change.

The new Diagnostic and Statistical Manual of Mental Disorders (DSM), which lays out guidelines for diagnosing psychiatric disorders, is expected in May, 2013.

The DSM-5, as it is called, eliminates a troublesome passage in the current version that has prevented doctors and researchers from describing ADHD and autism as disorders that can occur together.

“It has been kind of silly,” says Bryan King, a member of the working group charged with revising the guidelines for autism. “Everyone identified these behaviors as common and significant in autism, but we were unable to call them out formally as ADHD.”

The changes to the guidelines are long overdue. Within a few years of the DSM-IV’s debut in 1994, researchers began suggesting that the exclusionary rule doesn’t make sense, says King.

For example, he says, “clinical trials had to do some interesting contortions,” such as calling the symptoms of hyperactivity and attention deficit in autism “ADHD-like.” 

One of the reasons for this separation was fear that autism would be under-diagnosed, says James Harris, director of developmental neuropsychiatry at Johns Hopkins University in Baltimore, Maryland, who is also a member of the working group.

Harris says framers of the DSM-IV believed autism-related inattentiveness could be confused with ADHD, and children who could benefit from autism therapies might not receive treatment.

“Many kids with autism do have attention issues,” he says. However, the nature of the problem is different than in ADHD. It’s difficult to get the attention of children with ADHD or to keep them on task. In contrast, children with autism have trouble shifting attention away from their narrow range of interests.

Forcing clinicians to choose between autism and ADHD may have been helpful in some ways — for example, requiring them to scrutinize subtle behaviors more carefully, says King, who is director of child and adolescent psychiatry at the University of Washington. But it is likely to have also had an adverse effect on children who have both disorders, preventing them from receiving proper treatment.


Outdated Lingo

Research published over the past decade has provided growing evidence for the overlap between autism and ADHD. Genetic studies suggest the two disorders share genetic risk factors, and epidemiological studies confirm that some people with autism have symptoms of ADHD, and vice versa2. Neuroimaging and anatomical studies have also shown similarities between the two disorders.

Under the DSM-5 guidelines, doctors can directly analyze whether children with a primary diagnosis of ADHD and some autism symptoms might benefit from strategies designed for autism — such as social, speech and occupational therapies.

Likewise, children diagnosed with autism who show symptoms of hyperactivity, inattentiveness or impulsivity may benefit from treatments designed for ADHD3.

Treating these children with low doses of stimulants, such as Ritalin, often helps them to sit through classes without being disruptive, and may make speech or social therapies for their autism symptoms more effective, says Harris.

Doctors already prescribe these drugs for children with autism. But because of the language in the DSM-IV, the prescriptions are off-label and the doctors must say they are treating ”ADHD-like” symptoms rather than ADHD itself.

Acknowledging that the two disorders co-occur might also benefit clinical studies. For example, it’s possible that children who have symptoms of both autism and ADHD represent a unique subgroup. If that is the case, studying this group may help researchers identify risk factors or treatments specific to them.

“Once you have the ability to more effectively capture the population with autism and ADHD, that may become very useful for future genetic studies,” says King.

Other proposed revisions to autism in the DSM-5 have sparked controversy. Ruling out Rett Syndrome, collapsing some disorders — such as Asperger's Syndrome and pervasive developmental disorder-not otherwise specified (PDD-NOS) — into a single diagnosis, and narrowing autism’s core characteristics from three to two, have all inspired criticism.

But removing the restriction on a dual diagnosis of autism and ADHD appears to be universally endorsed. “This announcement has generated applause at Autism Society meetings, which is pretty extraordinary,” says King. (The Autism Society is an advocacy group based in Bethesda, Maryland.)

The American Psychiatric Association, which publishes the DSM, says experts will review the proposed guidelines this fall and then present them in December to the organization’s board of trustees.

References

1: Taurines R. et al. Atten. Defic. Hyperact. Disord. 4, 115-139 (2012) PubMed

2: Grzadzinski R et al. J. Autism Dev. Disord. 41, 1178-1191 (2011) PubMed

3: Cortese S. et al. Expert Rev. Neurother. 12, 461-473 (2012) PubMed

The Family Dynamic: Post Diagnosis

From AutismAtHomeSeries.com

By Bill Davis
August 13, 2009

I realized that my boy had autism but was astonished with the severity of the diagnosis. “Chris is self-injurious. If he does not speak by age five, he will probably never talk. He is mentally retarded, has speech and language disorders, PICA and intestinal issues. If I were you I would consider institutionalization.”

The neurologist was harsh, to say the least.

Parents are dearly affected after a diagnosis of autism. Emotions range from guilt to extreme depression. Looking back, a more accurate diagnosis might have been:

“You have been blessed with an incredibly unique child. He will be challenging, compelling even spiritual. Your son will expand your vision and fill your life with hope. There will be difficulties and painful days but you will grow together. You will encounter behavioral problems, bio-medical issues, language delays and sensory overload but you will meet them head on. Your child will strengthen you. Hold tightly to family, friends and sense of self. In the end your boy will allow you to discover purity and know unconditional love.”

Parents, life is about to become interesting. Life is about to become stressful as well. Autism is indeed a struggle but families can enjoy their time together. Many parents deny the diagnosis; they feel loss, anger and finally arrive at acceptance. Couples must learn to work as one:
  • Learn about Autism as a family;
  • Romance is still important;
  • Friendships are important as well;
  • Surround yourselves with support;
  • Educate the siblings;
  • Look over treatment options;
  • Examine medications and supplements;
  • Review dietary intervention;
  • Become experts;
  • Be patient and love your child.

Mothers of children with autism are extremely resilient. They seem to balance stress well but also suffer from bouts of depression. They worry if they are doing enough. As recovery and therapy becomes their lives, moms begin to feel alone and isolated. There is more anxiety amongst mothers of children with autism, than with any other disabilities. Mothers deal with an incredible amount of stress on a daily basis:
  • They are isolated, without friends;
  • Marital problems;
  • Daily care;
  • Finances;
  • Behavioral outbursts;
  • Fighting school districts;
  • Eating disorders;
  • The future;
  • Loss of expectations.

Mothers are left out socially because the child with autism is not usually invited to birthday parties or picnics. Chris and I visited our family for Easter. He was young and quite a handful. We were all playing in the backyard, when Chris began to gulp down pails of wet mud. Everyone scurried inside and I started to scoop sludge out of Chris’ mouth. I cleaned him up and took him home.

We were not asked to attend family gatherings again.

Moms forgo careers and dreams. There is no money for luxuries. French manicures and hair appointments become distant memories. Mothers of children with autism find it difficult to find time to pamper themselves. Typical moms go to amusement parks with their children, take time to workout and have private time with their husbands. Our mothers go to IEPs, seek out DAN doctors and fall asleep with ABA data in their hands.

Learn the warning signs of your child’s behavior. Create plenty of structure and routine. Prepare your child for changes and surprises. Do not worry about stereotypical behavior. Give your child a voice.

Some good advice:
  • Do not second guess yourself, not every child will be cured;
  • Do not stress over your dreams;
  • Make time for your spouse and siblings;
  • You do not have to experiment with every therapy;
  • Don’t assume your genetics are to blame;

Please seek out support groups. They can provide valuable resources. Secure respite care. You cannot do it all. Take some time for yourself. Consult with professionals, you are not alone. Advocate for your child. Winning an IEP is terribly empowering. Record your experiences, you never know, your story might appear on the Autism Today site. Parents are experts too.

Dads you are going to have to become a different type of father. Men feel powerless and women feel isolated. Fathers want to take action, “fix” the disorder. This philosophy can cause terrific stress. They feel the financial burden deeply and obsess over the future. Become an active dad and realize the beauty of your relationship. Attend seminars, sit in on therapies and attend the IEP.

I know one Mom who whispered to her husband that she would wear her Victoria’s Secret outfit if he showed up to the school meeting. Not only did he participate, but he changed his name to Lovaas, and produced a thesis on sensory integration!!

Seriously here are some points to remember:
  • You are no longer the center of attention. Collect many take out menus!
  • Talk to dads of disabled children;
  • Work as a family;
  • Recognize your wife’s approach as valid;
  • Celebrate “baby steps”;
  • Your involvement can improve your child’s communication by over 50%

Moms, please remember that your husband is an almost traumatic state. Set up a small table off to the side with all the information that you want your husband to take a look at. Keep him informed. Men tackle problems one step at a time; women have the ability to multi task.

Couples must reach a joint acceptance of their child’s Autism. Do not blame each other. Communicate about therapy and recognize each other’s needs. Spend time alone. Autism is kind of like a second mortgage, a 24-hour-a-day job. Take time to exercise together, and insist on regular physical checkups. Reach out to the special needs community. Co-operative parenting is the key.

We have all sought out specialists for our children; do the same for your marriage and family. Utilize psychologists, social workers and counselors. They can provide coping skills.

The family is experiencing constant strain. The finances are drained, siblings are lost in the shuffle and you internalize your child’s pain. Constantly refresh your relationship. Empower and energize. Learn who your child is, hold him close and love him deeply. You and your family will be changed forever.

Thursday, December 27, 2012

Brain Scans Show Differences in Adults with Autism

From HealthDay.com

By Maureen Salamon - HealthDay Reporter
November 29, 2012

"...it does suggest that understanding the role of the immune system in autism may be an avenue to understanding its treatment." 

Brain scans done on groups of men with autism show distinct differences in both the volume of specific regions and the activity of cells that signal a possible immune response, two new studies suggest.


Scientists in England and Japan used MRI and PET (positron emission tomography) scans to examine brain-based anatomical and cellular variations in those with autism. But the disparities -- while offering a deeper glimpse into the little-understood developmental disorder -- raised more questions about its cause and treatment that only further research can answer.
"There's really strong evidence now that the immune system appears to be playing a role in autism, but we just don't know what that role is," said Geraldine Dawson, chief science officer of Autism Speaks, who was not involved in either study. "There is such an urgent need for more research to understand the causes and more effective treatment for autism. Autism has really become a public health crisis, and we need to respond to this by greatly increasing the amount of research conducted, so we can help families find answers."
The studies were published online in this week's issue of the journal Archives of General Psychiatry.
Affecting one in 88 children in the United States, autism is characterized by pervasive problems in social interaction and communication, as well as repetitive and restricted behavioral patterns and interests.
The Japanese study examined the brains of 20 men with autism using PET scans to focus on so-called microglia. These are cells that perform immune functions when the brain is exposed to "insults" such as trauma, infection or clots. The PET images indicated excessive activation of microglia in multiple brain regions among those with autism, when compared to a group of people without the disorder.
..........................................................................................................................
Microglia
From Wikipedia, the free encyclopedia.

Microglia are a type of glial cell that are the resident macrophages of the brain and spinal cord, and thus act as the first and main form of active immune defense in the central nervous system (CNS). Microglia constitute 20% of the total glial cell population within the brain.[1] Microglia (and astrocytes) are distributed in large non-overlapping regions throughout the brain and spinal cord.[2][3] Microglia are constantly scavenging the CNS forplaques,damaged neurons, and infectious agents.[4] The brain and spinal cord are considered "immune privileged" organs in that they are separated from the rest of the body by a series of endothelial cells known as the blood–brain barrier, which prevents most infections from reaching the vulnerable nervous tissue. In the case where infectious agents are directly introduced to the brain or cross the blood–brain barrier, microglial cells must react quickly to decreaseinflammation and destroy the infectious agents before they damage the sensitive neural tissue. Due to the unavailability of antibodies from the rest of the body (few antibodies are small enough to cross the blood brain barrier), microglia must be able to recognize foreign bodies, swallow them, and act as antigen-presenting cells activating T-cells. Since this process must be done quickly to prevent potentially fatal damage, microglia are extremely sensitive to even small pathological changes in the CNS.[5] They achieve this sensitivity in part by having unique potassium channels that respond to even small changes in extracellular potassium.[4]


..........................................................................................................................

"This really raised the question about what the role is of these abnormalities," said Dawson, who also is a professor of psychiatry at the University of North Carolina, in Chapel Hill. "Is this something that could help us explain the causes of autism? Is it a reaction to autism, or the brain's response to developing in an unusual way?"
"We don't have the answers to these questions, but now they're showing up in multiple studies so it does suggest that understanding the role of the immune system in autism may be an avenue to understanding its treatment," she added.
The British study used MRI on 84 men with autism and a matched set of healthy participants. It suggested that those with autism have marked differences in cortical volume. These differences may be linked to its two components -- cortical thickness and surface area. Overall, participants with autism had greater cortical thickness within the frontal lobe regions of the brain and reduced surface area in other regions of the brain.
Study author Christine Ecker, a lecturer in neuroimaging at King's College London, discussed such brain differences.
"We also know that about 50 percent of individuals with autism have an abnormally enlarged brain, particularly during early childhood, which suggests that those with autism have an atypical developmental trajectory of brain growth." 
"We also know that about 50 percent of individuals with autism have an abnormally enlarged brain, particularly during early childhood, which suggests that those with autism have an atypical developmental trajectory of brain growth," Ecker said. "[Anatomical brain differences in these areas] are highly correlated with the severity of autistic symptoms, but we still need to establish how specific differences in surface area and cortical thickness affect wider autistic symptoms and traits."
Dawson, who wrote an editorial accompanying the studies, noted that the last decade has brought an explosion of new research into autism, although she still feels funding for this work is lacking from federal agencies.
"It's been amazing to see not only the number of new scientists that are beginning to devote their careers to autism research, but also the quality of scientists," Dawson said. "But despite the fact that we're excited and encouraged by the numbers of publications increasing, we still feel the progress is far too slow."

Link between ADHD and Oxygen Deprivation

From ScienceBlog.com

December 10, 2012

Children who had in-utero exposure to ischemic-hypoxic conditions, during which the brain is deprived of oxygen, were significantly more likely to develop attention deficit hyperactivity disorder later in life compared to unexposed children, according to a Kaiser Permanente study published in the journal Pediatrics.

The findings suggest that events in pregnancy may contribute to the occurrence of ADHD over and above well-known familial and genetic influences of the disorder.

 The population-based study examines the association between IHC and ADHD. Researchers examined the electronic health records of nearly 82,000 children ages 5 years old and found that prenatal exposure to IHC – especially birth asphyxia, neonatal respiratory distress syndrome, and preeclampsia – was associated with a 16 percent greater risk of developing ADHD.

Specifically, exposure to birth asphyxia was associated with a 26 percent greater risk of developing ADHD, exposure to neonatal respiratory distress syndrome was associated with a 47 percent greater risk, and exposure to preeclampsia (high blood pressure during pregnancy) was associated with a 34 percent greater risk. The study also found that the increased risk of ADHD remained the same across all race and ethnicity groups.


“Previous studies have found that hypoxic injury during fetal development leads to significant structural and functional brain injuries in the offspring,” said study lead author Darios Getahun, M.D., Ph.D., of the Kaiser Permanente Southern California Department of Research & Evaluation. “However, this study suggests that the adverse effect of hypoxia and ischemia on prenatal brain development may lead to functional problems, including ADHD.”

Researchers also found that the association between IHC and ADHD was strongest in preterm births and that deliveries that were breech, transverse (shoulder-first) or had cord complications were found to be associated with a 13 percent increased risk of ADHD. These associations were found to be the case even after controlling for gestational age and other potential risk factors.

“Our findings could have important clinical implications. They could help physicians identify newborns at-risk that could benefit from surveillance and early diagnosis, when treatment is more effective,” said Getahun. “We suggest future research to focus on pre- and post-natal conditions and the associations with adverse outcomes, such as ADHD.”

During critical periods of fetal organ development, IHC may result in a lack of oxygen and nutrient transport from the mother’s blood to fetal circulation. The result may be compromised oxygen delivery to tissues and cerebrovascular complications. However, this study suggests that the adverse effect of hypoxia on prenatal brain development may lead to functional problems, including ADHD.

In 2005, the Centers for Disease Control and Prevention estimated the annual cost of ADHD-related illness in children under 18 years of age to be between $36 billion and $52.4 billion, making the condition a public health priority.


In 2010, approximately 8.4 percent of children ages 3 to 17 had been diagnosed with ADHD. For about half the affected children, the disease persists into adulthood, according to CDC statistics. Symptoms of ADHD in children may include attention problems, acting without thinking, or an overly active temperament.

This study is part of Kaiser Permanente’s ongoing research to understand the relationship between prenatal conditions and adverse medical outcomes.


Earlier this year, Kaiser Permanente researchers found that in-utero exposure to relatively high magnetic field levels was associated with a 69 percent increased risk of being obese or overweight during childhood compared to lower in-utero magnetic field level exposure.

And a Kaiser Permanente study conducted last year found exposure to selective serotonin reuptake inhibitors anti-depressants in early pregnancy may modestly increase the risk of autism spectrum disorders.

Kaiser Permanente can conduct transformational health research in part because it has the largest private patient-centered electronic health system in the world. The organization’s electronic health record system, Kaiser Permanente HealthConnect®, securely connects 9 million people, 611 medical offices, and 37 hospitals, linking patients with their health care teams, their personal health information, and the latest medical knowledge.


It also connects Kaiser Permanente’s researcher scientists to one of the most extensive collections of longitudinal and medical data available, facilitating studies and important medical discoveries that shape the future of health and care delivery for patients and the medical community.

Wednesday, December 26, 2012

Special Education: A Delicate Balance Between Educating & Enabling

From the Education Week Blog - Finding Common Ground

By Peter DeWitt
December 20, 2012

Although public education changed a great deal for special education students after the 1970's, many classified students found that they were being pulled out of classrooms by their special education teacher and taught in the hallway or basement.

To be classified brought a stigma, but to be taught in the hallway while peers were taught in the classroom only increased that stigma.

As time went on many teachers began co-teaching with special education teachers in inclusion classrooms. The co-teaching experience, when done correctly, can be a great model for students and teachers because it brings two skill-sets together and provides an opportunity for teachers to learn from one another.

In my own experience working with special education teachers, I learned a great deal about center-based and hands-on learning because they knew how to do it far better than I did early in my career.

"Special education students are seen as the special education teacher's students, instead of a more fluid model where the general education teacher and special education teacher work together."

Unfortunately, this collaborative experience does not always happen in classrooms, and the pressure of our high stakes testing era does not help the situation. Special education students are seen as the special education teacher's students, instead of a more fluid model where the general education teacher and special education teacher work together. Although students may spend time in the same classroom, the students are sometimes split between who belongs to the general education teacher and who belongs to the special education teacher.

This relationship will only get worse as we go deeper into accountability. Teachers' jobs are on the line, and some worry about who will bring their HEDI score down. Sadly, accountability has brought out a "your's" and "mine" attitude rather than the philosophy that all of these students are "our" responsibility

Ultimately, this will not help the teacher or the students.

In an effort to get special education students the services they think they need, some students end up get enabled instead of educated. There is a very delicate balance between getting students the level of support they need and making sure that they don't get so much support that they no longer have to do things for themselves. In addition, an increased level of support may bring about more time out of the classroom and an increased opportunity for stigmatization.

Special education teachers are the experts when working with special education students because they know the process and understand the needs of the students. In fact, many special education teachers work multiple years with the same students so they not only create a strong bond, they are the ones creating the I.E.P. that provides the individual attention those students need.

However, the general education teacher can also be a "fresh set of eyes" and can provide important insight as well when the two adults work together.

Why Pay Attention to an I.E.P?

Recently Teach.com published an article giving insight into the special education process. Most educators know that an I.E.P. is an Individual Education Plan, and they are used to help special education students find success. Muldanado says, "To be an effective educator, good communication must be maintained with all of the team members and the Individualized Education Plan (IEP) must be followed at all times. IEPs are essentially the blueprint for a student's education, so creating one is not a process to be taken lightly"

(Meeting Their Needs: A Guide to Individualized Education Plans).

In these days of increased mandates, doing more with less, and an increased focus on standardized testing, teachers are feeling strapped when it comes to meeting the needs of all of their students. They get lost in the daily grind and have a hard time keeping up with the paperwork.

What happens when they mistakenly don't follow an I.E.P? What happens when they don't feel they need to follow the I.E.P?

First and foremost, it's a legal document. If a teacher is not following the I.E.P. they are putting themselves and their school in legal jeopardy. In addition, they are not helping the student get the vital services they need. If a teacher doesn't know that a child has an I.E.P. there is an even larger issue which begins with communication.

However, if they are not following the I.E.P. because they have not read it or they do not believe in everything that is written on it, they are creating more issues than they are solving.

I.E.P's are not written because teachers and parents have spare time and want to put a document together for fun. They are written because a child is developmentally delayed in an area and need specialized attention.

To not follow it or ignore what is on it because the teacher does not feel it is necessary is falling into educational malpractice.

Muldanado goes on to advise,"The key word in IEP is "individualized." The student must always be the central focus, and in order to keep the IEP process a positive one, it is best to focus on a student's strengths rather than his or her weaknesses. A special education teacher does a child a great disservice by not listening closely to input from all team members and keeping an open mind when it comes to trying new approaches.

The more you know about a student, the stronger the IEP and educational experience will be, so establish open communication early on with parents, service providers and other educators."

What About the Principal?

Leslie Vollor, and elementary special education director in upstate, N.Y. says, "A critical role that the principal plays is in brokering the relationship between the general education teacher and special education provider(s) so that each has voice yet autonomy." Those two parties have valuable input and have to work together in order to find the best resources to help the special education student.

In addition, the principal plays a vital role in helping special education students through discipline issues, if that is in fact, part of their disability. Vollor goes on to say, "In terms of discipline, the principal needs to discipline in a way that does not "punish" a student for disability related issues while maintaining a safe learning environment."

Principals too, have to take an active role in advocating for special education students and also making sure that the stigma is as non-existent as possible. Principals should also keep abreast of changes to a student's I.E.P. and what the student needs in the classroom. This takes communication between the administrator, special education teacher and general education teacher.

In the End

Special education has come a long way since legislation in the 70's but it still has a long way to go. Students who are classified, and their parents, feel the stigma that comes along with the classification. When students are pulled out of class they are at risk of feeling insecure about who they are. Although some of that may never be able to change because some students need a smaller setting throughout their day, it's important that the educators and administrators working with the students find ways to provide minimal impact.

In addition, there needs to be a delicate balance between getting the special education student the services they need and providing them with every service under the sun. All students deserve the chance to be educated rather than enabled. Sadly, in these times of high stakes testing, if teachers keep getting forced to teach to one type of learner, these issues will only increase rather than dissipate.

Why Can’t Harvard and BU Employees Get Insurance Coverage for Autism Therapies?

From the Boston.com Health Blog - Daily Dose

By Deborah Kotz
December 21, 2012

“Harvard employees and their families remain without access to the intensive therapeutic and rehabilitative care which has been deemed necessary by Harvard’s very own medical researchers.”

It’s been nearly two years since Massachusetts passed one of the strongest laws in the nation mandating that insurers provide coverage for the diagnosis and treatment of autism, without any annual or lifetime limits on the amount of coverage.

Yet some of the state’s biggest employers, including Boston University and Harvard, don’t provide coverage for therapeutic services that can cost families tens of thousands of dollars every year.

They don’t have to under the state’s ARICA law, because they’re self-funded plans that are regulated by federal law and not subject to state law. The federal government added autism coverage to its benefits package for federal employees last June.

Some Boston-area companies with self-funded plans such as Partners HealthCare, Tufts University, Iron Mountain, the Lahey Clinic, State Street Corporation, and Ocean Spray have opted to include autism coverage in their health plans. Others, though, seem to be dragging their heels.

“Places like Harvard and BU don’t provide coverage for their employees, but they were part of the [Autism] Consortium that testified in support of the state legislation mandating coverage,” said Judith Ursitti, director of state government affairs at Autism Speaks, a non-profit advocacy and research group. “It’s ironic hypocrisy.”

Boston University physics professor Anatoli Polkovnikov told me that he can’t afford to pay the $3,000 per month for the behavioral therapy sessions that his 11-year-old son, Ilya, needs. “We have Blue Cross Blue Shield, which covers speech therapy and physical therapy, but that’s pretty much it,” he said.

Ilya is at the low-functioning end of the autism spectrum. Although sweet-natured and not aggressive, Ilya has a range of behavioral issues such as wandering away from his parents at the mall, said his mother Irina. “He needs to learn how to stay with us when we’re outside the house, how to spread butter on bread, how to bathe himself, and go to the bathroom,” she added.

Research suggests that applied behavioral analysis or ABA therapy is one of the few effective therapies for teaching kids with autism such basic life skills. But the Polkovnikovs said it would cost them $102 for each two-hour session, and their son would require 10 hours a week. That’s in addition to the specialized schooling he gets through the Newton public schools.

Anatoli Polkovnikov said he’s been through the rounds with the human resources department at the university, but to no avail, and now they’ve stopped responding to his e-mails.

“Boston University provides good and generous employee benefits,” said spokesperson Colin Riley, though he confirmed the university does not provide coverage for autism therapies to its employees. “We frequently review the benefits offered to see if we can improve them.”

Riley wouldn’t predict whether autism coverage would be included in the future.

Over at Harvard, Dawn Miller, a parent of a child with autism who works in the university library, wrote a scathing column in the Harvard Crimson last September citing research from her own institution supporting insurance coverage. “Harvard employees and their families remain without access to the unlimited and intensive therapeutic and rehabilitative care (particularly Applied Behavioral Analysis), which has been deemed necessary by Harvard’s very own researchers,” Miller wrote.

She cited a 2006 Harvard study that estimated the societal cost of not treating a child with autism to be as much as $3.2 million over that individual’s lifetime.

“Harvard University’s medical plan covers the diagnosis and treatment of autism spectrum disorder, but Applied Behavior Analysis services are not covered,” Harvard spokesperson Kevin Galvin said in an emailed statement.

After the state law was passed, Galvin added, the university reviewed its coverage and “decided to continue to provide its current care as detailed in its medical plan, as was permitted for organizations with self-insured medical plans.”

Ursitti said her group and others have been working with employers to try to convince them that premiums won’t rise by much if they add autism coverage. One analysis of two years of data from states that implemented coverage laws before Massachusetts found that premiums rose by 22 cents per member per month after autism therapies were added.

“It’s really not the astronomical cost that’s projected by health plans,” Ursitti said. That’s because therapy costs vary depending on the severity of the condition. “I have two kids on the spectrum,” Ursitti said. “One is very challenged and needs a lot of services, while the other has Asperger’s and isn’t accessing any services at all."

.......................................................................................................

Deborah Kotz can be reached at dkotz@globe.com. Follow her on Twitter @debkotz2.

Monday, December 24, 2012

Sulphation and Autism: What are the Links?

From AutismFILE

By Rosemary H. Waring
School of Biosciences, University of Birmingham, U.K.

November 29, 2012
Sulphate Synthesis

I have always been interested in the sulphation pathway, as addition of a sulphate group can make dramatic changes to the properties of both drugs and tissue components. Our group first started working in the field of autism about 15 years ago, when we were asked to measure the metabolism of paracetamol in an autistic child.


At the time, I had only heard the orthodox medical view that autism was ‘all in the mind’ and had no biochemical basis. To our great surprise, we found that children with autism, unlike the age-matched controls, were much less able to form the sulphate conjugate of paracetamol, although the other metabolic pathways were normal.

We went on to look at the levels of sulphate in the blood plasma, because sulphation capacity depends on both the amount of sulphate available and also the activity of the enzyme that carries out the reaction. We found that autistic children generally had low sulphate levels, typically about 10-15% of the control values.

Sulphate is produced in vivo by oxidation of methionine or cysteine, both sulphur – containing amino acids which are provided from dietary proteins, and this pathway probably provides ~ 80% of the sulphate required in man.

The first stage in this process involves the enzyme cysteine dioxygenase (CDO); cysteine sulphinic acid is formed and undergoes fission to provide sulphite (SO 3 2- ) ions which are then further oxidised to sulphate (SO 4 2- ) ions by the enzyme sulphite oxidase (SOX).


Obviously, if CDO or SOX have reduced activity, the provision of sulphate will also be decreased. The human CDO gene is localised to chromosome 5 (5q22-23), and it is interesting that analysis of 110 multiplex families with autism, where one sibling had autism and the other a diagnosis of Asperger’s syndrome or pervasive developmental disorder, suggested linkage on chromosomes 5 and 19 while a study on ADHD (attention deficit/hyperactivity disorder) found a linkage to chromosome 5q33.

The CDO protein is found in heart, thyroid and kidney, as well as brain and the liver, localisation in the CNS being particularly found in the cerebellum and the Purkinje neurons; these are known to be abnormal in patients with autistic spectrum disorders. CDO activity is variable in human populations and there are sub-sets with lower activity (~ 30% of the population) or null activity (~ 3% of the population).

The null S-oxidisers are heavily over-represented in chronic disease states with an auto-immune component such as rheumatoid arthritis and primary biliary cirrhosis; in general auto-immune problems are more common in the family background of autistic children. We now know that inflammatory cytokines such as TNF-?, which are at relatively high levels in many autistic children and in auto-immune diseases, can reduce expression of CDO and SOX and therefore reduce the supply of sulphate for conjugation with drugs and biocomponents.

Expression of both CDO and SOX was inhibited in vitro at levels of 0.1 ng/ml TNF- a , concentrations which could easily occur in vivo during an infection. This work, however has all been carried out in vitro and it is difficult to deduce from this whether the effects would also occur in vivo . To check this, a small pilot study was carried out in this laboratory when students and staff were offered a vaccination against hepatitis B (the antigen is in fact one of the virus coat proteins).

Volunteers were asked to take a therapeutic (1000 mg) dose of paracetamol (acetaminophen) on Day 1 before the vaccination which took place on Day 7 and paracetamol was also ingested on days 8, 10 and 15 afterwards. The vaccination had no ill effects apart from slight reddening at the injection point in some volunteers but it greatly altered the detoxication pathways for paracetamol. In particular, the phase 2 conjugation reaction of sulphation was severely depressed, only reaching control values about a week later.

It is clear that even a simple vaccination in healthy volunteers can dramatically affect some metabolic pathways, at least in the short term. It is obvious from these results that the process of sulphate formation and sulphation itself is potentially severely disrupted in inflammation; the in vivofindings appear to correlate with those seen in vitro , suggesting that cell culture systems can act as useful models.

It is interesting that autistic children who were challenged with a paediatric dose of paracetamol were less able to form its sulphated derivative than controls of the same age although the glucuronidation pathway was unaffected. Their general metabolic profile was very similar to that found for the adult volunteers with a Hepatitis B vaccination. This seems to be a general finding which has been replicated in UK, Italian and USA populations and probably reflects the fact that raised cytokine levels in autism have secondary effects on sulphation of a range of substrates.

This may explain why some children with autism are reported as responding badly to dosage with paracetamol and with other drugs; obviously toxic effects are more likely if clearance is impaired by reduced metabolism to water-soluble derivatives.

Sulphate in the Brain

Principally, sulphation is a major inactivation pathway for catecholamines such as the neurotransmitter dopamine, about 80% of which is sulphated in man. Usually, when chemical neurotransmitters are released in the central nervous system, they act at receptor proteins and are then inactivated by sulphation or by FAD-linked mono-oxygenases or alternatively are carried by transporter proteins back into the initiating neurone.


Failure of a major pathway such as sulphation will lead to a neurotransmitter imbalance, and raised serum and CSF levels of dopamine and elevated urinary levels of dopamine metabolites have been found in autistic children. In rats, high dopamine concentrations like this are associated with stereotyped and repetitive behaviour, not unlike that sometimes seen in autism. Other catecholamines, such as noradrenalin, also control behaviour and affect mood so that changes in their levels can have obvious effects.

Sulphation also affects the synthesis of brain tissue. Sulphated polysaccharides and glycosaminoglycans are so important in the development of the foetal and neonatal brain that any alteration in their structure may have serious consequences – it is currently thought that these compounds act as ‘scaffolding’ to direct the direction and ‘wiring’ of brain neurons. Sulphate transport across the placenta increases dramatically around the time of birth when most of the glial cells are being formed and these increased levels of sulphate are associated with formation of astrocytes and oligodendrocytes from progenitor cells.


Children have higher levels of plasma sulphate than adults (0.47 nmol/l at birth decreasing to 0.33 nmol/l at 36 months; adult levels are around 0.27 nmol/l although there can be a wide range). This relatively high level of sulphate, as compared with the adult state and with, for instance, laboratory rats, seems to show that humans have a definite requirement for sulphation in neuronal development both before and after birth and that reduced levels could affect brain structure and function.

Recent research suggests that brain development relies on particular patterns of sulphation occurring in the right sequence; rather like the fairy tale of ‘Goldilocks and the three bears’ we need ‘not too little, not too much but just right’! But are infections in pregnancy, which would be expected to give raised cytokine levels and potentially reduce sulphate formation, actually linked with altered brain development or function in the baby?

In a small pilot survey in this laboratory which looked at 200 mothers of autistic children, it was found that they were eight times more likely to have received antibiotic treatment for an infection in pregnancy than age-matched controls and 5 times more likely to have had long-term therapy for recurrent infections. Certainly studies using rats as a model have shown that increased cytokine levels in pregnancy affect the development of neural integration in the neonate; it seems probable that one of the many factors in autism may be raised levels of cytokines or other factors, possibly released in infections, affecting sulphation and neurodevelopment.

Sulphation and the Gastrointestinal Tract

The process of sulphation also affects the functioning of peptides and proteins. Mucin proteins, which line the gastrointestinal tract, are sulphated glyco-proteins which control adhesion and absorption of nutrients. They have long peptide backbones with repeating sub-units and also peptide side-chains, rather similar to a ‘bottle-brush’. These amino acid sequences also have strings of attached sugars which are sulphated like the peptides themselves.


As the addition of sulphate residues (SO 4 2- ) sticks on net negative charges, the proteins spread out since the negative charges repel each other (Figure 1). If the sulphate residues are lost, this leads to a protein which has a more globular structure and provides less protection for the tissues from the intestinal contents as there are ‘gaps’ between the proteins.

Reduced sulphation has been linked with gut dysfunction in irritable bowel disease and Andrew Wakefield’s group showed that lower levels of sulphation of the ileal mucins occured in children with autism which probably explains why gut permeability is increased in many autistic children. Sulphation of mucins increases their resistance to colonisation by pathogenic bacteria (and viruses).

It is interesting that Helicobacter pylori, which can colonise the stomach, only does so when it has produced a sulphatase enzyme to de-sulphate the gastric mucins. This reduced sulphation of gut proteins may makeCandida infections more likely in autistic children, since the slight negative charges on Candida cells would lead to their repulsion by negatively charged sulphate groups on the mucins.

Peptides can also be sulphated, usually on tyrosine residues, and the gastric hormones gastrin and cholecystokinin are good examples of this pathway. Both are involved in the digestive process and both are activated by sulphation. In a complex cascade, gastrin is sulphated and, with hydrochloric acid from the stomach, causes release of cholecystokinin, which also requires sulphation. Together with peptide fragments released from proteins by hydrochloric acid in the stomach, this acts with the peptide hormone secretin on pancreatic tissue to induce the secretion of a range of proteolytic enzymes and also amylase and lipases. (Figure 2).


Without the sulphation process to trigger the release of pancreatic proteases such as trypsin and chymotrypsin, the complete digestion of proteins to their amino acid building blocks (proteolysis) cannot take place, so that peptides, rather than amino acids, are found in the gastrointestinal tract. As reduced sulphation of mucins may have made the gut more permeable, the stage is set to allow peptides to penetrate into the blood stream.

At the same time, the reduced levels of pancreatic amylase alter the digestibility of starch-based foods and allow increased fermentation of pathogenic bacteria while the decreased pancreatic lipase activity promotes formation of foul-smelling fatty stools which contain undigested triglycerides. Some peptides which cross the gut wall, particularly those derived from casein and gluten, have been found to be neuroactive with effects on the brain where they act at opioid receptors, affecting behaviour, mood and responses to physical stimuli such as pain.

This ‘leaky gut’ hypothesis therefore links with the opioid theory to explain why there are peptides in the circulation rather than amino acids, and why they have such ready access to the central nervous system. Although the blood-brain barrier is usually seen as being non-permeable to many compounds, it may, like the gut, be ‘leaky’ in autism.

Several studies have reported the presence of brain-derived proteins and antibodies, such as those from myelin, within the peripheral circulation. If relatively large proteins can cross from the brain, it seems possible that peptides and proteins could potentially be transported into the brain, although the mechanisms involved are not known. Simple diffusion across ‘leaky’ gap junctions may be all that is necessary.

Sulphotransferase Enzymes in Autism

Not only is there an impaired level of sulphate in many cases of autism, there is also often a corresponding lack of sulphotransferase activity. These are the enzymes which carry out sulphation of a wide range of substrates. They belong to a super-family which uses PAPS (3′-phosphoadenosine-5′-phosphosulphate) as a co-factor and are widely distributed throughout the body, sulphating tissue components and signal molecules such as steroids, thyroid hormones and neurotransmitters. The major enzymes responsible for the sulphation of phenols and catecholamines are called SULT1A1 and 1A3 respectively.


Sulphotransferase activity is known to be altered in some dysfunctional states, for example most patients with migraine have low SULT1A1 and sometimes low SULT1A3 activity. They are therefore less able to sulphate dietary phenols and catecholamines. Sulphation inactivates amines – many migraine patients are susceptible to foods which contain brain-active amines (cheese/tyramine, chocolate/phenylethylamine, bananas/serotonin) or inhibit the SULT enzymes.

The increased blood levels of amines/phenols with neurotransmitter activity are thought to ‘trigger’ migraine headaches in those who are already susceptible. It has been shown that individuals who are susceptible to migraine are metabolically unstable (with raised excitotoxic amino acid levels) so that very small changes in blood and brain catecholamine levels are sufficient to provoke a migraine attack . SULT1A1 and 1A3 can be inhibited by flavonoids and by foods containing these compounds which typically occur in fruit and vegetables.

Eating citrus fruit, especially oranges, is often reported as being a migraine ‘trigger’ and the component flavonoids (especially naringin) are inhibitors of both SULT1A1 and SULT1A3. The inhibitory effects of flavonoids on SULT1A1 can be partially overcome by the presence of magnesium ions which enhance the enzyme activity.

Many children with autism, particularly those with G.I. tract problems, have a family background of migraine and in a small pilot study we found that some children with autism also had reduced sulphotransferase activity. They would be expected to react badly to foods containing phenols, catecholamines or flavonoids and this response may underlie the benefits of the Feingold (low-phenol) diet and provide an explanation for the dietary intolerances which can be found in autism.


Anecdotally, many parents of autistic children report that their condition is made worse by the same foods which affect migraine patients and that chocolate and bananas exacerbate behavioural problems. In children ‘migraine’ often affects the gastro-intestinal tract, causing colic and cramping. This disappears around puberty to become the classic headache syndrome and it is possible that some of the gut dysfunction seen in autism may be a version of this juvenile presentation of migraine.

Other sulphotransferases can also be affected. The enzyme tyrosylprotein sulphotransferase (TPST) is membrane-bound and found in most tissues of the body, including the platelet and the gastrointestinal tract. TPST is the enzyme responsible for sulphation of gastrin and cholecystokinin as well as the sulphation of mucins so it is obviously important in g.i.tract function. It is interesting that sulphated cholecystokinin (CS) has receptors in the brain as well as the gut and is required for release of the peptide hormone oxytocin. CS levels may be low in mothers of autistic children as studies have shown that they are more likely to require pitocin (a synthetic oxytocin analogue) during the birth process .


Children with autism have lower levels of oxytocin themselves and as this hormone elicits social behaviour any deficiency may contribute to the social deficits in autistic spectrum disorders. The digestive and neurological systems are therefore dependent on adequate supplies of sulphate (usually low in autism) and on a sufficiently active form of TPST being present to catalyse the digestive ‘cascade’ process and also activate the body’s defences against infections.

Relatively little work has been done on this enzyme, but a pilot study in this laboratory with autistic children showed a mean TPST activity which was 33% of the control value. There was a wide range of activity, some children having almost no detectable platelet TPST values while a small number (3/20) had nearly normal levels. None of this latter group had g.i. tract dysfunction while those children who did have gut problems, including diarrhoea and constipation, all fell into the ‘low TPST activity’ category.

Conclusion

The evidence so far is incomplete but is certainly in accordance with the view that while defects in sulphation may not be the prime cause of autism, they are responsible for much of the dysregulation of biochemical and physiological processes. Perhaps the full answer may lie somewhere in the complex interactions of the autoimmune system with neuronal development.


Autism may then reflect either in utero damage from maternal cytokines or perinatal damage caused by the actions of infections and vaccinations on a child with faulty autoimmune responses. The aetiology of the condition might then be similar to that for eczema, asthma and allergic responses, all of which seem to be increasingly common in children.

Autism is of course heterogeneous but improved understanding of the biochemistry involved must eventually lead to novel therapeutic approaches. Potentially, too, we should be able to identify children ‘at risk’( perhaps measuring cytokine levels at birth or before vaccinations?). They could then follow a controlled diet and possibly a different schedule of vaccinations, while infections would be avoided where possible.

Figure 1



Schematic diagram showing the structure of mucin. The thick horizontal line represents the polypeptide “backbone” and the short vertical lines the polysaccharide side-chains which are studded with sulphate ( ˜ ) and sialic acid ( ™ ) residues.

Figure 2



The role of sulphation in digestion. Mechanical stretching of the stomach walls coupled with chemical stimuli from the food cause the polypeptide hormone gastrin to be secreted by the pyloric glands in the stomach. Gastrin is activated by sulphation and triggers the production of hydrochloric acid and the proteolytic enzyme pepsin. These, in combination with digestive products, prompt the release of two more hormones: the polypeptide cholecystokinin (which also requires sulphation prior to activation) and secretin which stimulates the pancreas to produce bicarbonate which neutralizes the acid from the stomach and the enzymes necessary for digestion to continue in the small intestine.

More Sulphate and Autism Research (At Last)

From the Blog - Questioning Answers

By Paul Whitely
November 1, 2012

"... a more systems-biology approach might yet yield some interesting observations regarding the condition(s)."

I've mentioned my interest in sulphation (sulfation) and autism in previous posts, and how it always seemed like a real shame that the work of Rosemary Waring and others was never really followed up with any great enthusiasm.

To those who might not know about the whole autism-sulphate story, it goes something like this: higher levels of urinary sulphate (and related metabolites) are detected , accompanied by increased protein excretion, in subjects with autism compared to controls.


Plasma levels of sulphate (sulfate) by contrast tended to be reduced. Ergo, lots of dumping of sulphate in urine and reduced circulating sulphation capacity, with some potentially important implications for mucoprotein sulphation and indeed the metabolism of certain drugs.

Enter then, a study by Francis Bowling and colleagues,* which (thankfully) did look at sulphation with autism in mind, and indeed (make) some interesting observations based on genetic sequence variants to a gene involved with renal sulphate transportation, NaS1, disruption to which might have some important implications**.

I might add that I think this latest research is an extension to that presented on other occasions by the authors as per this abstract from the 2010 Australian Physiological Society meeting.

The Details

Based on a sample of 23 people diagnosed with an autism spectrum disorder (ASD) meeting ADOS criteria, several measures were taken or calculated including: (i) levels of creatinine-adjusted sulphate in plasma and urine, (ii) the calculated fractional excretion index (FEI) of sulphate (based on urine and plasma levels) and (iii) the frequency of two separate genetic point mutations affecting NaS1 function based on analysis of the NaS1 gene (SLC13A1) located on an interesting chromosome (7) for autism.

Results: the normal FEI sulphate values based on other data, was estimated as falling between the range 0.17 - 0.34. Eleven participants presented with elevated FEI sulphate (greater than 0.35). Importantly, no specific clinical features seemed to correlate with FEI sulphate (so things like comorbid gastrointestinal symptoms, self-injurious behaviour, seizures, etc.).

That being said they did pick up one child with nephrolithiasis (kidney stones) "due to cystinuria" and another child with "probable mitochondrial disruption".

Genetic screening for the two variants - one of which (R12X) leads to a complete loss of sulfate transport function - was undertaken and lo and behold, mutation in one or both of the genes seemed to be linked to those elevated FEI sulphate results. Indeed an individual with the highest FEI sulphate reading (0.50) carried both mutations whilst those with no mutation generally showed the lowest FEI sulphate readings.

Quite rightly the authors are pretty buoyed by their results, concluding that their data "may explain the abnormally low sulphonation capacity previously reported in some autistic individuals". I have to say that looking at their data on SLC13A1 genotypes (Table 2 and Figure 1b if you are looking at the full-text), there is a very definite pattern emerging based on variants which is hard to question, bearing in mind the relatively small participant group. 

Another potential inborn error of metabolism linked to autism?

I suppose the next question is what can be done about this issue and if left as is, what is the long term prognosis of poor sulphate transporter function. With no medical advice given or intended, previously I've talked about efforts to supplement with things like MSM with autism and other conditions in mind, and whether such regimes will actually produce tangible effects on both the supply of sulphate and its usage.

I'm going to have do a little bit more reading on the function of NaS1 before commenting any further it has to be said, given that just pumping sulphate in might not necessarily be the best strategy here. I'm also reminded of the emerging work being done on oxalates and autism as also potentially being relevant here.

The Bowling paper is an important one for quite a few reasons outside of just reinvigorating research into sulphation and autism. The results reiterate: (a) that universal genetic (and environmental) findings across all autism(s) are likely to be very few and far between, if any at all, and confirms the move towards studying endophenotypes, and (b) how marrying the disciplines of genetics and biochemistry together using something like a more systems-biology approach, might yet yield some interesting observations regarding the condition(s).

Oh, and again, that inborn errors of metabolism might actually be quite important to some cases of autism.

References

* Bowling FG. et al. Plasma and urinary sulfate determination in a cohort with autism. Biochem Genet. October 2012.

** Lee S. et al. Disruption of NaS1 sulfate transport function in mice leads to enhanced acetaminophen-induced hepatotoxicity. Hepatology. 2006; 43: 1241-1217.

Bowling, F., Heussler, H., McWhinney, A., & Dawson, P. (2012). Plasma and Urinary Sulfate Determination in a Cohort with Autism Biochemical Genetics DOI: 10.1007/s10528-012-9550-0


Whitely on Whitely

"I have been involved in autism research for more years than I care to remember. The Questioning Answers blog is a place to describe and discuss various research into autism spectrum and related conditions.

My Gutness Gracious Me blog is for discussions on various gastrointestinal research. I make no recommendations, I am not giving any medical advice, I am not formulating any specific opinions and do not want to get into any ethical, political or religious debates. I am not trying to change anyone's opinions, views, beliefs or anything else.

These are purely blogs about science and research in autism and a few other interesting things. Any posts I make are my own opinions and not reflective of any organisation I am affiliated to.

Keep in mind that science deals with probabilities, not absolutes.

Sunday, December 23, 2012

Happy Holidays!




















Have a safe, healthy and happy holiday season!

Current Research - Implications for the Asperger Community

From Michael Forbes Wilcox's Blog

June 28, 2012

...............................................................................................

NOTE: Asperger's Syndrome (or Disorder) will disappear as a diagnosis upon publication in May, 2013 of the new DSM 5, and will instead, controversially, be subsumed within the broader classification "Autism Spectrum Disorder".

...............................................................................................

One Person’s Observations and Reactions

Michael Forbes Wilcox's blog delivers what he calls the "Personal observations of an activist Aspergerian." Here's his takeaway from the Asperger's Association of New England's (AANE) conference at Northeastern University in March. This post is a lightly-edited version of an article that appeared in Issue #10 of the AANE Journal: Spring, 2012.

Surprising Concordance

I was struck by a couple of common themes that ran through all six of the research presentations given during the day.

Science has learned many things about autism in recent years, and these findings often run contrary to the received wisdom. Yet, several important research findings, such as the ones presented at this conference, have not made their way into common knowledge.

New scientific understanding of autism is growing by leaps and bounds, which gives us great optimism that we will rapidly gain new appreciation of just what it is that is different about this wonderfully complex neurological state. Still, the more we learn, the more we realize how much we do not understand.


Major Findings

Here are a few points that I distilled out of the day’s proceedings. There are many common misconceptions about autism; one might even call them autism myths. The latest scientific research either finds no evidence to support these beliefs or, in some cases, has proven them to be quite contrary to the evidence. Here are some of the main lessons I took away from the conference:

Autism is not a “spectrum” condition. There is a clear dichotomy between being autistic and non-autistic (neurotypical). In fact, autism itself is a word that describes a variety of heterogeneous neurological differences. It might be more accurate to say there are many different kinds of autism. Perhaps a better metaphor might be the “autism constellation.”

There is no correspondence between autism and intelligence. The terms “high-functioning” and “low-functioning” have been used to describe autistic people, based entirely or mostly on IQ level. These terms are not at all helpful, since they do not describe pragmatic functional ability.

Similarly, commonly used “severity” labels are neither accurate nor useful. There is neither a “mild” nor a “severe” form of autism. These terms may simply describe the difficulty of diagnosing or recognizing any given person as autistic.

Autistic people have a very different way of thinking about the world. That different way is just that; a difference, not a deficiency. Autistic brains simply may have a different “default” mode from neurotypical brains. We may prefer to focus on details, for example, but that does not mean we cannot see the big picture.


 Brief Synopses of Presentations
There were six presenters; here is a brief look at their topics and a couple of observations about each one. This is not intended to cover the full gamut of each hour-long presentation.

  • Pharmacotherapy: There are medications that can be effective in addressing some of
  • the negative qualities associated with autism, including anxiety, irritability, and hyperactivity. There are no drugs, however, that can treat the core symptoms of autism, which have to do with social interaction and communication.
  • Multimodal Neuroimaging: Insights gained from combining different brain-imaging techniques tell neurologists that, from a neurological point of view, autism overlaps with bipolar and schizophrenia. It is also evident that what we call autism is quite heterogeneous. That is to say, there are different types of autism, and it is not a quality that one can have more or less of (autism does not exist along a continuum, or a spectrum). Cognitive control is a key subject under investigation, and one thing has become clear: behaviors that appear the same to a casual observer may look very different neurologically. This is worrisome since autism is diagnosed primarily by observing behavior.
  • Social Engagement at School: On-site observations have called into question the value of the one-on-one aide model, at least as it is currently implemented. Also, there seems to be no empirical support for the notion that autistic children are, on average, more socially isolated than neurotypical kids. One underutilized technique for addressing socialization challenges is to engage children in suggesting solutions, instead of having teaching being guided entirely by adults. The artificial environment in which most social thinking training is done may make it less relevant than it could be.
  • Different Preferences for Attention: At least a couple of the stereotypes that have grown up around autism seem to have no scientific support. Studies designed to measure central coherence (seeing the big picture) and “sticky attention” (the relative inability to shift focus) have revealed no essential difference between autistic and neurotypical subjects. What is clear is that autistic people have different preferences; and may prefer, for example, to dwell on detail. That doesn’t mean they can’t see the big picture; it’s just not as interesting.
  • Adaptive Behavior Deficits: It used to be thought that 70% to 80% of autistic people also suffered from intellectual impairment. Recent studies show the number to be the other way around. (As an aside, I’m not aware of any connection between autism and intelligence, so I wonder why the percentage of people who are categorized as intellectually impaired would be any different – 5% – from the general population. One caveat here is that there could be developmental delays associated with autism so that age-adjusted testing could be skewed.) The concept of “high-functioning” as it relates to autism is generally only related to IQ, and so is not really addressing the ability to function in a pragmatic sense. A study of a large group of autistic people found no correlation between scores on a scale of adaptive skills (the Vineland scale) and a measure of “severity” of autism (the ADOS test). This calls into question the relevance of labels such as “mild” and “severe” since they seem to have no practical significance.
  • Physiological Features of Anxiety: As with brain imaging, measurement of physiological signs of anxiety (such as higher heart rate and perspiration) found that outward behavior is not necessarily an accurate indication of what is going on inside. This suggests that even careful observation by staff may not give an adequate (or even accurate) warning of when a person is experiencing distress. Better techniques are needed.