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IACC Presentation by Lisa Croen: Psychiatric and Medical Conditions Among Adults with ASD

20 Nov

The last meeting of the previous Interagency Autism Coordinating Committee (IACC) was a workshop on under recognized co-occurring conditions in ASD. One of the speakers was Lisa Croen of Kaiser Permanente. She spoke about psychiatric and medical conditions among adults with ASD. Much of this work (and more) was presented as a webinar at SFARI. This work was also presented at IMFAR.

If you can find the time to watch the video (it’s 17 minutes long), it’s well worth it. This is the sort of work we just haven’t seen before now–a look at medical needs of autistic adults. If you don’t have that time, here are a few highlights.

First consider the sort of medical conditions that get a lot of attention in the pediatric population: Sleep, GI and immune. For the pediatric population, one can watch the presentation by the Lewin group that was also given at the IACC workshop: IACC Co-occurring conditions workshop: Lewin Group presentation on co-occurring conditions in autistic children in the U.S..

In adults, GI, sleep and immune conditions are found more often in the autistic population than in the general population. Moderately more often. Interestingly, thyroid conditions are 2.5 times more common (compare this to GI disorders, which are 1.3 times more common).

croen 3

By contrast, psychiatric conditions like anxiety, depression and suicide attempts are even more common in the autistic population. Schizophrenia is 22 times more common.

croen 1

Neurologic conditions are also more common in the autistic population. Parkinson’s is 32 times more common in autistics. Dementia is 4.4 times more common.

croen 2

This is the sort of work I’ve been calling for since even before I was appointed to the IACC. The autism parent community and the research community spends a lot of time talking about learning about kids and getting tools into the hands of pediatricians. But what about adults? We know that epilepsy often has an onset about puberty for autistic kids. We know that for another developmental disability, Down Syndrome, early onset dementia is relatively common. But what is going on right now with adults? What is do we, parents and autistics, have to plan around for the future?

If I recall correctly, the last comment I made as a member of the IACC had to do with this study.

Those are exactly the kind of things that frankly scare the heck out of me and I would like to know more about. And know there’s something on the horizon I need to know about and if there is a way to intervene with adults.


By Matt Carey

IACC Co-occurring conditions workshop: Lewin Group presentation on co-occurring conditions in autistic children in the U.S.

4 Nov

Anjali Jain of the Lewin group presented on data they have collected from medical records about the prevalence of co-occurring conditions found in autistic children in the U.S.. This presentation was made to the Interagency Autism Coordinating Committee in Sept. 2014. (the original video is here, and the Lewin Group talk started at about timestamp 17:50.  The original has closed captioning).

Some of the most common co-occurring conditions are anxiety and depression. In fact, mental health conditions are found in about 70% of autistics. Similarly, neurological conditions and neurodevelopmental disorders are found in about 70% of autistics. By comparison, GI+nutritional disorders (which include areas like allergies), which get a great deal of attention, are found in about 20% of the autistic population. While large, this is much less common than the 70% rates found for mental health and neurodevelopmental disorders.

Another interesting finding was that autistic children are seen more often for treatment of infectious diseases. If the risk for serious problems from infectious diseases is higher in autistic children, this makes the decision of many autism parents to stop vaccinating their children even more problematic.

The full video (with closed captioning) can be found here:

http://videocast.nih.gov/launch.asp?18636


By Matt Carey

Globanews.ca reports:Health Canada seizes dangerous health product

20 Oct

The article is very short but the news is good–Health Canada has gone beyond issuing warnings about MMS (also known as CD protocol, CDS, Chlorine Dioxide Solution, Magic Mineral Solution). They have seized the product from one supplier:

According to Health Canada, MMS contains sodium chlorite, which is used as a textile bleaching agent and disinfectant. An alternate form of MMS, which is called CDS, is also being sold on the same web site. It would have the same risks associated with it as MMS.

Health Canada has now seized the product since sodium chlorite is not approved for human consumption.

If you have been using the product, it is recommended you stop immediately and go see your doctor.

MMS is a scam, plain and simple. And a dangerous scam. More discussion of it can be found at the Thinking Person’s Guide to Autism in: Dangerous Interventions: MMS and Autism by Emily Willingham, Ph.D..


By Matt Carey

The Quacks behind the Warrior Moms

13 Oct

I accept Dr Carpenter’s opinion that there is no evidence that any of these treatments were individually beneficial for M and that collectively they were intrusive and contrary to his best interests.  M’s life was increasingly dominated by the programme of treatment to the exclusion of other activities.  I find that E has implemented a programme of diet, supplements and treatments and therapies indiscriminately, with no analysis as to whether they are for M’s benefit, and on a scale that has been oppressive and contrary to his interests.  She has exercised total control of this aspect of M’s life.’

Mr Honourable Justice Baker, In the Court of Protection, Judgment, In the matter of the Mental Capacity Act 2005 and in the matter of M, 11 August 2014

Brian Deer has once again done a service to the autism community, by putting in the public domain the judgment of Mr Justice Baker in the case arising from a dispute between a local authority and the mother (E) and father (A) of a young man (M) with autism.

http://briandeer.com/solved/mother-lied-protection-news.htm

Deer’s report, published in the Sunday Times on 12 October, focuses on the judge’s scathing judgment on E, a prominent supporter of the claim by the discredited Royal Free researcher Andrew Wakefield of a link between the MMR vaccine and autism. Mr Justice Baker concluded that E had fabricated evidence of an adverse reaction to MMR in her son, invented a range of associated diagnoses, subjected her son to unnecessary tests and treatments, neglected a dental abscess and indulged in fantasy conspiracy theories.

This Court of Protection case offered a rare opportunity to ventilate in public some of the controversies that have raged in the world of autism over the past decade. In the USA, the Omnibus Autism proceedings in 2008-9 provided a public forum in which claims regarding vaccine-autism links and associated alternative treatments were exposed as scientifically baseless and clinically irresponsible.

http://www.spiked-online.com/newsite/article/6283#.VDqLgWd0yUk

Though Mr Justice Baker did not address the MMR link or alternative treatments in general, his 92 page report provides a devastating indictment of the role of a range of therapists in relation to M, some of whom appeared as witnesses. In addition to exclusion diets and supplements, M received homeopathy, cranial osteopathy, reflexology, naturopathy, light and sound therapy, auditory integration training and hyperbaric oxygen therapy. It is clear that E’s descent into irrationality and paranoia was supported and encouraged by a number of dubious authorities and therapists, with damaging consequences for her son and her family.

Three therapists gave evidence in support of E’s treatment of her son. Shelley Birkett-Eyles, an occupational therapist working in a private clinic, was accepted by Mr Justice Baker as a ‘responsible practitioner’, though he noted that her reliability was challenged by Dr Peter Carpenter, a consultant psychiatrist with a special interest in learning disability, the expert witness called by the local authority.

Dr Peter Julu describes himself as ‘autonomic neurophysiologist’ (based at the private Breakspear Clinic), though Mr Justice Baker questioned whether this was a legitimate speciality and noted that his diagnosis of ‘neurodevelopmental dysautonomia’ was disputed by Dr Carpenter, who also challenged the reliability of his assessments and treatments, particularly his recommendation of hyperbaric oxygen therapy.

Ms Juliet Hayward, a nutritional therapist, was censured for giving ‘advice well beyond her expertise’, in endorsing a diagnosis of Lyme Disease and in prescribing a dietary protocol without taking an adequate medical history. Mr Justice Baker concluded that he ‘was left with a profound anxiety about Ms Haywood’s influence on E and her role in the treatment that M has received.’

Mr Justice Baker was particularly concerned that none of these three had received training in issues of ‘mental capacity’ as codified in the 2005 Mental Capacity Act. He observed that ‘it was clear from their evidence that none of them had given proper consideration to the question whether M had capacity to consent to their assessments or the treatment they were prescribing’.

In addition to these therapists, E called as expert witnesses two veterans of the Wakefield anti-MMR campaign: Dr Ken Aitken, a clinical psychologist formerly associated with the (now defunct) Autism Treatment Trust providing alternative treatments in Edinburgh; and Mr Paul Shattock, a retired pharmacy lecturer from Sunderland, a long-standing promoter of exclusion diets and unorthodox biomedical therapies.

http://www.spiked-online.com/newsite/article/5992#.VDqNsWd0yUk

By contrast with other expert witnesses (including Dr Peter Carpenter, Dr Alison Beck, Professor Robin Williamson, Dr Gwyn Adshead, Mr Keith McKinstrie), whom Mr Justice  Baker found to be ‘wholly reliable and professional’, he expressed considerable reservations about Aitken and Shattock:

‘I was concerned at times as to their qualifications to opine on some of the matters about which they gave evidence.’

In his conclusion, Mr Justice Baker categorically rejected the approach advocated by Aitken and Shattock in relation to M:

‘I stress, again, that I am not making any definitive findings on the efficacy of alternative treatments generally.  That is not the subject of these proceedings, which are about M.  I do, however, find that: (1) there is no reliable evidence that the alternative treatments given to M have had any positive impact on people with autism generally or M in particular and (2) the approach to prescribing alternative treatments to and assessing the impact of such treatments on people with autism in general and M in particular has lacked the rigor and responsibility usually associated with conventional medicine.’

Mr Justice Baker repudiated ‘the fallacy’ of E’s belief that there are two parallel approaches to the diagnosis and treatment of autism, each of which is equally valid:

‘The evidence in this hearing has demonstrated clearly that there is one approach – the clinical approach advocated by Dr Carpenter – that is methodical, rigorous and valid, and other approaches advocated by a number of other practitioners, for which there is no evidence of any positive impact and which (in this case at least) have been followed with insufficient rigor.  Whilst each treatment may be harmless, they may, if imposed collectively and indiscriminately, be unduly restrictive and contrary to the patient’s interests.  These disadvantages are compounded when, as in several instances in this case, insufficient consideration is given by the practitioners to the question of whether a mentally-incapacitated patient has consented to or wishes to have the treatment.’

Given his characterisation of E’s performance in court as controlling, manipulative, duplicitous and obstructive it was perhaps not surprising that Mr Justice Baker expressed some sympathy for the long-suffering family GP, Dr W. This ‘older-style family GP’ had been ‘tolerant and sympathetic’ and had maintained a good relationship with the family ‘until he went into the witness box’, when it became clear to E and her husband that, though Dr W had been attentive to the family needs and had responded to her requests to arrange investigations that he did not consider clinically indicated, he did not endorse her wilder theories and diagnoses. Though the parents later expressed ‘disillusionment’ with Dr W, Mr Justice Baker found his evidence ‘responsible, truthful and humane’.

Michael Fitzpatrick

13 October 2014

Michael Fitzpatrick has an autistic son close in age to M; he is a doctor, former GP and the author of MMR and Autism: What Parents Need to Know (2004) and Defeating Autism: A Damaging Delusion (2009)

Since bleach wasn’t enough, let’s start adding hydrochloric acid to MMS?

27 Aug

MMS. Miracle Mineral Solution is dangerous bunk. They’ve taken such a hit with people exposing it as bunk that they’ve started rebranding themselves as “CD” of “Chlorine Dioxide”.

The basic idea is that there are bad things inside you that make you sick. And by sick, they include autistic. If you ingest something that kills the bad things, or take enemas that kill the bad things, you will no longer be sick. There’s a lot of handwaving about how this only works on the bad things and not the good things like, say, the tissues in your body.

It’s nonsense. Dangerous nonsense.

MMS stands for Miracle Mineral Solution. It’s not a miracle. It’s not a mineral. It is a solution made by combining two other solutions to get chlorine dioxide in solution. The two starter solutions are sodium chlorite (a powerful bleach) and citric acid.

Well if citric acid is “good”, how can we make it “better” some have asked?

A New Simpler MMS: CDH – Chlorine Dioxide Holding (01-04-2014)

Here’s what they say:

While CDS has no raw materials left in the final product, CDH does, making it similar to classic MMS. The main difference between classic MMS and CDH, however, is that the sodium chlorite is allowed to react with the acid for a much longer period of time which reduces the amount of unactivated sodium chlorite and activator left in the final CDH solution. Then, since CDH is more fully activated outside of the body, it causes little or no stomach upset in most people. Also, CDH made with 4% HCl tastes much better. (Note: For those who still have a problem with the taste, “Sweetleaf” brand liquid stevia has been tested and is compatible with MMS, thus can be used to make it taste even better.)

If you took high school or college chemistry you probably remember the very sharp aroma of HCl. You may remember how it can burn skin and the lining of your nose. It’s nasty stuff. Sure, they’ve got relatively dilute HCl (4%), but, still, WHAT ARE THEY THINKING? (and after that–people are looking at 10% HCl! There is something seriously wrong here)

MMS/CD/CDH, whatever you want to call this, it’s a scam. People post to Facebook pictures of the intestinal linings of their disabled kids, passed with the help of MMS enemas. They caption these pictures with statements about how MMS killed “worms”. Rather than go to a doctor and see if there are real parasites, they are self-diagnosing and self-treating and causing harm.

One of the main avenues for promoting this to the autism community is the AutismOne parent convention, where MMS pracitioner Terri Riviera sells her services under the guise of “scientific” presentations.

And all the people presenting at AutismOne stand by and don’t say a word. The supposed leaders in that community don’t seem to have the ability to spot scam artists (which is pretty obvious given the years they have spent promoting Andrew Wakefield, to give just one example). They also lack courage. They rarely if ever stand up to anyone who is promoting obvious and dangerous nonsense.

The all show up, promote themselves, their goods and services, and go home. It’s time for them to show some courage. They can put a stop to this. Instead they lend their names and credibility to this obvious scam.


By Matt Carey


By Matt Carey

Recent Autism Gastrointestinal research funded by NIH

24 Jul

There are many parent advocates asking for research into gastrointestinal disorders and autism. My own anecdotal observations have been that these same parent advocates are of the belief that no work is ongoing. There are a number of projects ongoing and I’ve tried in the past to make that point (What projects are being funded in autism research? Part 1: vaccines and GI issues). I found 14 projects, nearly $3M in 2010. I found 11 projects for $1.7M in 2009.

I thought it time to revisit this question. I’m using a different data source–the NIH RePORTER database. Because of that these projects are those funded by NIH. Other Federal groups can and do fund autism research. Also private organizations like Autism Speaks

Below are the projects I found for the past few years. There are projects on epidemiology, treatment and biology.

While I think that the funding agencies could do a better job informing the communities about these projects, I sincerely wish that the parent advocacy groups calling for this research would inform their members that it is going on. I am actually very curious as to why they have not done that.

MECHANISMS OF AUTONOMIC BRAINSTEM DEVELOPMENT ($243,000)

Brainstem and autonomic circuitry, though understudied in neurodevelopmental disorders, are implicated in pathophysiology and co-occurring medical conditions, such as gastrointestinal disturbances (GID). The goal of this R21 project is to fill this knowledge gap, based on significant preliminary data.

CASEIN KINASE 1 INHIBITORS FOR TREATMENT OF AUTISM $349,610

The overall goal of our program is to (1) identify CK1 [Casein Kinase 1] inhibitors suitable for development as therapeutic agents and (2) to use these agents to investigate the suitability of CK1 inhibitors for addressing specific behavioral features of the complex, multi-symptom disorder known as autism.

The CADDRE SEED studies are multiyear but I haven’t listed all the grants. So the amount is much higher than even the substantial sums noted below.

MD CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT, SEED PHASE II $91,706

MD CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT, SEED PHASE II $1,600,000

CALIFORNIA CADDRE-SEED PHASE II $1,100,000

NC CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT (SEED) PHASE II $1,100,000

COLORADO CADDRE STUDY TO EXPLORE EARLY DEVELOPMENT CADDRE_SEED II $1,100,000

PA-CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT (SEED) PHASE II $1,100,000

SEED will address hypotheses including: ASD phenotypic variation, including the pattern of clustering of core symptoms, timing of onset, cognitive status, and presence of medical and psychiatric co-morbidities; gastrointestinal features; genetic variation and interaction with environmental risk factors (GxE); infection, immune function, and autoimmunity factors; hormonal factors and maternal reproductive characteristics; and sociodemographic and lifestyle factors.

INVESTIGATING THE GUT MICROBIOME FOR NOVEL THERAPIES AND DIAGNOSTICS FOR AUTISM $558,136 (also funded in 2013 for $558,136)

Based on compelling preliminary evidence, this project aims to explore the potential connection between GI barrier defects and altered behavior in preclinical models of autism. Our long-term goal is to explore possible serum biomarkers for ASD diagnosis, and potentially develop a novel probiotic therapy for at least a subset of children with ASD with GI issues.

2013 projects

TREATMENT OF MEDICAL CONDITIONS AMONG INDIVIDUALS WITH AUTISM SPECTRUM DISORDERS $488,568 (also, $339,591 in 2012, $264,726 in 2011, $578,006 in 2010, $535,209 in 2009, and $465,840 in 2008)

The life-long impairments in communication and social function are often complicated by the presence of medical comorbidities, including epilepsy, (and epileptiform discharges), gastrointestinal disturbances and sleep disorders.

REGULATION OF GASTROINTESTINAL NEUROMUSCULAR FUNCTION BY NIBP/NFKB SIGNALING $320,576 (and 2012 $343,747)

The proposed research is relevant to public health because the discovery of a novel function of NIBP/NFkB signaling in enteric neurons and glial cells is ultimately expected to increase the understanding of the pathogenesis of gastrointestinal diseases. It also shed light on the therapeutics for gastrointestinal inflammation and functional disorders.

ARE AUTISM SPECTRUM DISORDERS ASSOCIATED WITH LEAKY-GUT AT AN EARLY CRITIACAL PER $292,221 (and 2012 $302,820, and 2011 $302,820)

This project seeks to answer fundamental questions about the connection between early development of gastrointestinal (GI) problems (constipation, diarrhea, vomiting, etc.) and autism spectrum disorders (ASD)

From 2011

NEUROIMMUNOLOGIC INVESTIGATIONS OF AUTISM SPECTRUM DISORDERS (ASD) $264,726

A number of anecdotal reports have linked autism with gastrointestinal (GI) dysfunction; most notable among these are reports that autism is associated with “leaky gut” syndrome. Microbial translocation (MT) is the process by which bacteria or microbial byproducts permeate through the wall of the GI Tract (or other abnormally porous mucosal barriers) into the bloodstream. The microbial byproducts would then stimulate the immune system, which could have secondary effects on CNS functioning, or the byproducts could have a direct neurotoxic effect. We conducted assays of MT products in children with autism (from blood and CSF), as well as typically developing children (blood samples only).

and

Our ongoing phenotyping studies will be used to identify a cohort of children with autism who also have significant gastrointestinal symptoms in order to address this potentially important subgroup of patients.

A PRIMATE MODEL OF GUT, IMMUNE, AND CNS RESPONSE TO CHILDHOOD VACCINES $156,634


By Matt Carey

Press Release: Common gene variants account for most genetic risk for autism

23 Jul

This press release is from NIH: Common gene variants account for most genetic risk for autism

Common gene variants account for most genetic risk for autism
Roles of heritability, mutations, environment estimated – NIH-funded study

Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. Heritability also outweighed other risk factors in this largest study of its kind to date.

About 52 percent of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

nimh-20_l

The bulk of risk, or liability, for autism spectrum disorders (ASD) was traced to inherited variations in the genetic code shared by many people. These and other (unaccounted) factors dwarfed contributions from rare inherited, non-additive and spontaneous (de novo) genetic factors. Source: Population-Based Autism Genetics and Environment Study
“Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture,” explained Joseph Buxbaum, Ph.D., of the Icahn School of Medicine at Mount Sinai (ISMMS), New York City. “Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together.”

Buxbaum, and colleagues of the Population-Based Autism Genetics and Environment Study (PAGES) Consortium, report on their findings in a unique Swedish sample in the journal Nature Genetics, July 20, 2014.

“Thanks to the boost in statistical power that comes with ample sample size, autism geneticists can now detect common as well as rare genetic variation associated with risk,” said Thomas R. Insel, M.D., director of the NIH’s National Institute of Mental Health (NIMH). “Knowing the nature of the genetic risk will reveal clues to the molecular roots of the disorder. Common variation may be more important than we thought.”

Although autism is thought to be caused by an interplay of genetic and other factors, including environmental, consensus on their relative contributions and the outlines of its genetic architecture has remained elusive. Recently, evidence has been mounting that genomes of people with autism are prone to harboring rare mutations, often spontaneous, that exert strong effects and can largely account for particular cases of disease.

More challenging is to gauge the collective impact on autism risk of numerous variations in the genetic code shared by most people, which are individually much subtler in effect. Limitations of sample size and composition made it difficult to detect these effects and to estimate the relative influence of such common, rare inherited, and rare spontaneous variation.
Differences in methods and statistical models also resulted in sometimes wildly discrepant estimates of autism’s heritability – ranging from 17 to 50 percent.

Meanwhile, recent genome-wide studies of schizophrenia have achieved large enough sample sizes to reveal involvement of well over 100 common gene variants in that disorder. These promise improved understanding of the underlying biology – and even development of risk-scores, which could help predict who might benefit from early interventions to nip psychotic episodes in the bud.

With their new study, autism genetics is beginning to catch up, say the researchers. It was made possible by Sweden’s universal health registry, which allowed investigators to compare a very large sample of about 3,000 people with autism with matched controls. Researchers also brought to bear new statistical methods that allowed them to more reliably sort out the heritability of the disorder. In addition, they were able to compare their results with a parallel study in 1.6 million Swedish families, which took into account data from twins and cousins, and factors like age of the father at birth and parents’ psychiatric history. A best-fit statistical model took form, based mostly on combined effects of multiple genes and non-shared environmental factors.

“This is a different kind of analysis than employed in previous studies,” explained Thomas Lehner, Ph.D., chief of NIMH’s Genomics Research Branch. “Data from genome-wide association studies was used to identify a genetic model instead of focusing just on pinpointing genetic risk factors. The researchers were able to pick from all of the cases of illness within a population-based registry.”

Now that the genetic architecture is better understood, the researchers are identifying specific genetic risk factors detected in the sample, such as deletions and duplications of genetic material and spontaneous mutations. Even though such rare spontaneous mutations accounted for only a small fraction of autism risk, the potentially large effects of these glitches makes them important clues to understanding the molecular underpinnings of the disorder, say the researchers.

“Within a given family, the mutations could be a critical determinant that leads to the manifestation of ASD in a particular family member,” said Buxbaum. “The family may have common variation that puts it at risk, but if there is also a de novo [spontaneous] mutation on top of that, it could push an individual over the edge. So for many families, the interplay between common and spontaneous genetic factors could be the underlying genetic architecture of the disorder.”

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