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2011 IACC Strategic Plan Includes New Focus on Interventions for Nonverbal People with ASD, Health Promotion Efforts, and Safety

1 Mar

IACC news alerts come out periodically. You can check the archive and/or sign up for the emails. The 2011 Strategic Plan came out yesterday. Coincident with that was a news announcement:

2011 IACC Strategic Plan Includes New Focus on Interventions for Nonverbal People with ASD, Health Promotion Efforts, and Safety

The Interagency Autism Coordinating Committee (IACC) has released its 2011 Strategic Plan for Autism Spectrum Disorder (ASD) Research, which is intended to provide a blueprint for future ASD research efforts. The Plan provides a set of research recommendations to guide federal autism research efforts and serves as a basis for partnerships with other agencies and private organizations involved in ASD research and services.

“Federal and private investment in autism research has increased markedly in the past two years,” said IACC Chairman and NIMH Director Dr. Thomas Insel. “At the same time, the IACC has heard from the community about the growing need for research and the importance of new areas for rigorous scientific study. This updated research Strategic Plan builds on recent discoveries and emerging opportunities to identify new areas where science can make a difference for individuals and families with ASD.”

Several new areas of focus have been identified in the 2011 Plan, including studies on the use and accessibility of Alternative and Augmentative Communication (AAC) tools for nonverbal individuals on the spectrum and studies of health promotion and the prevention of related health concerns such as obesity and mental health issues. In addition, in response to public concerns about the health and safety of children and adults with autism, the committee added new objectives related to understanding safety issues that may contribute to the increased risk of injury and premature death that has been reported in the literature.

In total, the IACC added 16 new objectives to the Plan during the update and added an addendum section to each chapter describing what has been learned over the past year, what gap areas have emerged, and what progress has been made in fulfilling the existing objectives. During the annual update of the Plan, which is required under the Combating Autism Act of 2006, the IACC considered input from ASD community, advocacy groups, research funding organizations, and the scientific community. Also incorporated was information from the IACC Portfolio Analysis of ASD Research Funding in 2009 (the most recent year for which there was complete funding data), the 2010 IACC Summary of Advances in ASD Research, the Request for Information (RFI) on the 2010 Plan, and the proceedings of the IACC Services Workshop held in November 2010.

In developing the 2011 Plan, the committee highlighted many successful collaborations that have been recently formed among member agencies and organizations. These collaborations included a joint conference held by the National Institute of Environmental Health Sciences (NIEHS) and Autism Speaks on autism and the environment; an information portal called AutismNOW supported by the Administration for Children and Families (ACF), in partnership with the Autistic Self-Advocacy Network (ASAN) and the Autism Society; and the Autism Informatics Consortium, which is designed to improve the utility and usability of informatics tools for ASD researchers and represents a collaboration between NIH, Autism Speaks, and the Simons Foundation. These public-private partnerships embody the spirit of collaboration described in the Plan’s Mission Statement and are critical to making progress toward understanding ASD and improving the lives of people on the spectrum, as well as those of their families.

US proposes $154M in new autism research projects

1 Mar

The Interagency Autism Coordinating Committee (IACC) is charged with creating the “Strategic Plan“. This document lays out research priorities for the US government to pursue in the upcoming years.

The full plan is available ether by html or pdf.

If you’ve watched IACC meetings, you know that a lot of time goes into word smithing. They work out the wording that will go into the document and convey the messages with the best balance of the various viewpoints represented by the committee. Not to belittle that effort, but when the rubber hits the road, what gets into the budget is what matters most to me.

With that in mind, I’ve summarized the new objectives (long-term and short-term) that were added in 2011.

I also went through and quickly summed up the new item budget amounts. Forgive me if I missed anything, but here is what I got. First as a brief summary:

Question 1: When Should I Be Concerned?:
2 new objectives. $9,635,000

Question 2: How Can I Understand What Is Happening?:
no new objectives. $0

Question 3: What Caused This To Happen And Can This Be Prevented?:
6 new objectives. $90,570,000

Question 4: Which Treatments and Interventions will Help?:
3 new objectives. $45,500,000

Question 5: Where Can I Turn for Services?: 3 new objectives.
$3,800,000

Question 6: What Does the Future Hold, Particularly for Adults?:
no new objectives. $0

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?:
3 new objectives. $4,950,000

Total: 17 new objectives. $154,455,000

And as a more detailed summary:

Question 1: When Should I Be Concerned?
Aspirational Goal: Children at Risk for ASD Will Be Identified Through Reliable Methods Before ASD Behavioral Characteristics Fully Manifest.

New Short-Term Objectives:

2011 E. Conduct at least one study to determine the positive predictive value and clinical utility (e.g., prediction of co-occurring conditions, family planning) of chromosomal microarray genetic testing for detecting genetic diagnoses for ASD in a clinical setting by 2012. IACC Recommended Budget: $9,600,000 over 5 years.

2011 F. Convene a workshop to examine the ethical, legal, and social implications of ASD research by 2011. The workshop should define possible approaches for conducting future studies of ethical, legal, and social implications of ASD research, taking into consideration how these types of issues have been approached in related medical conditions.IACC Recommended Budget: $35,000 over 1 year.

New Long-Term Objectives: None.

Question 2: How Can I Understand What Is Happening?
Aspirational Goal: Discover How ASD Affects Development, Which Will Lead To Targeted And Personalized Interventions.

New Short-Term Objectives: none.

New Long-Term Objectives: None.

Question 3: What Caused This To Happen And Can This Be Prevented?
Aspirational Goal: Causes Of ASD Will Be Discovered That Inform Prognosis And Treatments And Lead To Prevention/Preemption Of The Challenges And Disabilities Of ASD.

New Short Term Objectives:

2011 F. Initiate studies on at least 10 environmental factors identified in the recommendations from the 2007 IOM report “Autism and the Environment: Challenges and Opportunities for Research” This link exits the Interagency Autism Coordinating Committee Web site as potential causes of ASD by 2012. IACC Recommended Budget: $56,000,000 over 2 years.

2011 G. Convene a workshop that explores the usefulness of bioinformatic approaches to identify environmental risks for ASD by 2011. IACC Recommended Budget: $35,000 over 1 year.

2011 H. Support at least three studies of special populations or use existing databases to inform our understanding of environmental risk factors for ASD in pregnancy and the early postnatal period by 2012. Such studies could include:

* Comparisons of populations differing in geography, gender, ethnic background, exposure history (e.g., prematurity, maternal infection, nutritional deficiencies, toxins), and migration patterns; and

* Comparisons of phenotype (e.g., cytokine profiles), in children with and without a history of autistic regression, adverse events following immunization (such as fever and seizures), and mitochondrial impairment. These studies may also include comparisons of phenotype between children with regressive ASD and their siblings.

Emphasis on environmental factors that influence prenatal and early postnatal development is particularly of high priority. Epidemiological studies should pay special attention to include racially and ethnically diverse populations. IACC Recommended Budget: $12,000,000 over 5 years.

2011 I. Support at least two studies that examine potential differences in the microbiome of individuals with ASD versus comparison groups by 2012. IACC Recommended Budget: $1,000,000 over 2 years.

2011 J. Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.

2011 K. Support two studies and a workshop that facilitate the development of vertebrate and invertebrate model systems for the exploration of environmental risks and their interaction with gender and genetic susceptibilities for ASD by 2012. IACC Recommended Budget: $1,535,000 over 3 years.

New Long Term Objectives: None.

Question 4: Which Treatments and Interventions will Help?
Aspirational Goal: Interventions Will Be Developed That Are Effective For Reducing Both Core And Associated Symptoms, For Building Adaptive Skills, And For Maximizing Quality Of Life And Health For People With ASD.

New Short Term Objectives:

2011 G. Support at least five studies on interventions for nonverbal individuals with ASD by 2012. Such studies may include:

* Projects examining service-provision models that enhance access to augmentative and alternative communication (AAC) supports in both classroom and adult service-provision settings, such as residential service-provision and the impact of such access on quality of life, communication, and behavior;

* Studies of novel treatment approaches that facilitate communication skills in individuals who are nonverbal, including the components of effective AAC approaches for specific subpopulations of people with ASD; and

* Studies assessing access and use of AAC for children and adults with ASD who have limited or partially limited speech and the impact on functional outcomes and quality of life.

IACC Recommended Budget: $3,000,000 over 2 years.

2011 H. Support at least two studies that focus on research on health promotion and prevention of secondary conditions in people with ASD by 2012. Secondary conditions of interest include weight issues and obesity, injury, and co-occurring psychiatric and medical conditions. IACC Recommended Budget: $5,000,000 over 3 years.

New Long Term Objectives:

2011 D. Support at least five community-based studies that assess the effectiveness of interventions and services in broader community settings by 2015. Such studies may include comparative effectiveness research studies that assess the relative effectiveness of:

* Different and/or combined medical, pharmacological, nutritional, behavioral, service-provision, and parent- or caregiver-implemented treatments;

* Scalable early intervention programs for implementation in underserved, low-resource, and low-literacy populations; and

* Studies of widely used community intervention models for which extensive published data are not available.

Outcome measures should include assessment of potential harm as a result of autism treatments, as well as positive outcomes. IACC Recommended Budget: $37,500,000 over 5 years.

Question 5: Where Can I Turn for Services?
Aspirational Goal: Communities Will Access And Implement Necessary High-Quality, Evidence-Based Services And Supports That Maximize Quality Of Life And Health Across The Lifespan For All People With ASD.

New Short Term Objectives:

2011 D. Support two studies to examine health, safety, and mortality issues for people with ASD by 2012. IACC Recommended Budget: $4,500,000 over 3 years.

New Long Term Objectives:

2011 D. Evaluate at least two strategies or programs to increase the health and safety of people with ASD that simultaneously consider principles of self-determination and personal autonomy by 2015. IACC Recommended Budget: $2,000,000 over 2 years.

2011 E. Support three studies of dental health issues for people with ASD by 2015. This should include:

* One study on the cost-benefit of providing comprehensive dental services, including routine, non-emergency medical and surgical dental services, denture coverage, and sedation dentistry to adults with ASD as compared to emergency and/or no treatment. IACC Recommended Budget: $900,000 over 3 years.

* One study focusing on the provision of accessible, person-centered, equitable, effective, safe, and efficient dental services to people with ASD. IACC Recommended Budget: $900,000 over 3 years.

* One study evaluating pre-service and in-service training program to increase skill levels in oral health professionals to benefit people with ASD and promote interdisciplinary practice. IACC Recommended Budget: $900,000 over 3 years.

Question 6: What Does the Future Hold, Particularly for Adults?
Aspirational Goal: All People With ASD Will Have The Opportunity To Lead Self-Determined Lives In The Community Of Their Choice Through School, Work, Community Participation, Meaningful Relationships, And Access To Necessary And Individualized Services And Supports.

New Short-Term Objectives: none
New Long-Term Objectives: none

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?
Aspirational Goal: Develop And Support Infrastructure And Surveillance Systems That Advance The Speed, Efficacy, And Dissemination Of Autism Research.

New Short- and Long-Term Objectives

2011 N. Enhance networks of clinical research sites offering clinical care in real-world settings that can collect and coordinate standardized and comprehensive diagnostic, biological (e.g., DNA, plasma, fibroblasts, urine), medical, and treatment history data that would provide a platform for conducting comparative effectiveness research and clinical trials of novel autism treatments by 2012. IACC Recommended Budget: $1,850,000 over 1 year.

2011 O. Create an information resource for ASD researchers (e.g., PhenX Project This link exits the Interagency Autism Coordinating Committee Web site) to share information to facilitate data sharing and standardization of methods across projects by 2013.

* This includes common protocols, instruments, designs, and other procedural documents and should include updates on new technology and links to information on how to acquire and utilize technology in development.

* This can serve as a bidirectional information reference, with autism research driving the development of new resources and technologies, including new model systems, screening tools, and analytic techniques.

IACC Recommended Budget: $2,000,000 over 2 years.

2011 P. Provide resources to centers or facilities that develop promising vertebrate and invertebrate model systems, and make these models more easily available or expand the utility of current model systems, and support new approaches to develop high-throughput screening technologies to evaluate the validity of model systems by 2013. IACC Recommended Budget: $1,100,000 over 2 years.

Release of the 2011 IACC Strategic Plan for Autism Spectrum Disorder Research

28 Feb

The IACC has released the 2011 Strategic Plan. I have quoted the announcement below, which includes the links:

The Interagency Autism Coordinating Committee (IACC) and the Office of Autism Research Coordination (OARC) are pleased to announce the release of the 2011 IACC Strategic Plan for Autism Spectrum Disorder Research. The updated Strategic Plan contains 16 new research objectives covering a variety of issues, including use and accessibility of interventions for non-verbal people with ASD, health promotion for people with ASD, and issues related to safety for people on the spectrum. The HTML version of this year’s Strategic Plan is fully hyperlinked throughout to websites with information about funders, programs and over 180 ASD-related publications, which should make the Plan an especially useful resource for people with ASD, families, providers, research funders, researchers, policymakers, and the public. A formatted, downloadable PDF version of the Plan is also available. Links to the new Strategic Plan and related information, including a news update about the Plan, can be accessed from the IACC Home Page.

US plan for autism research: focus on environmental causation re-emphasized

28 Feb

The Interagency Autism Coordinating Committee has released the 2011 Strategic Plan. This maps out the proposed directions that government funded research should take in regards to autism in the coming years.

The area that gets the most scrutiny is causation research, so I am blogging it first. Once again, the IACC has put forth a program with the major emphasis on environmental causation projects, with over 70% of funding going towards environmental causation:

Under short term objectives for “Question 3: What Caused This to Happen and Can It Be Prevented?” there are 6 new objectives for 2011. No new “long term” objectives.

Initiate studies on at least 10 environmental factors identified in the recommendations from the 2007 IOM report “Autism and the Environment: Challenges and Opportunities for Research” as potential causes of ASD by 2012. IACC Recommended Budget: $56,000,000 over 2 years.

Convene a workshop that explores the usefulness of bioinformatic approaches to identify environmental risks for ASD by 2011. IACC Recommended Budget: $35,000 over 1 year.

Support at least three studies of special populations or use existing databases to inform our understanding of environmental risk factors for ASD in pregnancy and the early postnatal period by 2012. Such studies could include:
o Comparisons of populations differing in geography, gender, ethnic background, exposure history (e.g., prematurity, maternal infection, nutritional deficiencies, toxins), and migration patterns; and
o Comparisons of phenotype (e.g., cytokine profiles), in children with and without a history of autistic regression, adverse events following immunization (such as fever and seizures), and mitochondrial impairment. These studies may also include comparisons of phenotype between children with regressive ASD and their siblings.
Emphasis on environmental factors that influence prenatal and early postnatal development is particularly of high priority. Epidemiological studies should pay special attention to include racially and ethnically diverse populations. IACC Recommended Budget: $12,000,000 over 5 years.

Support at least two studies that examine potential differences in the microbiome of individuals with ASD versus comparison groups by 2012.
IACC Recommended Budget: $1,000,000 over 2 years.

Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.

Support two studies and a workshop that facilitate the development of vertebrate and invertebrate model systems for the exploration of environmental risks and their interaction with gender and genetic susceptibilities for ASD by 2012. IACC Recommended Budget: $1,535,000 over 3 years.

Many have claimed in the past that the IACC has not supported environmental causation. This is just not true, and it is not true going forward. Causation research in the past few Strategic Plans has focused the majority of funding on environmental and gene-environment causation.

Many have claimed that this blog is somehow against environmental causation research. Again, this is clearly not true.

I doubt either argument will go away. But, those are minor issues. What is important is what gets done. Causation research is important.

I would, and have, argued that research into supporting autistics alive today is also highly important. Research involving issues concerning autistic adults is vastly underfunded in my view. Total budget for new projects in the “WHAT DOES THE FUTURE HOLD, PARTICULARLY FOR ADULTS?” is zero. That’s right. No new projects in this area.

Besides neglecting the needs of a large number of adults today, this is poor planning for the future of today’s children. A person will spend about 75% of his/her life as an adult. Much, if not most, of that time without the support of parents.

Another anti-vaccine rally fizzles

24 Feb

A handful of “outraged” anti-vaccine activists occupied part of the sidewalk at the corner to 6th Ave. and 52nd St. today and listened to other angry anti-vaccine activists promote an anti-vaccine book and denounce Bill Gates.

Witnesses report 18 participants at an event which promoters predicted would draw “tens of thousands” of parents supposedly angry at the portrayal of the people they follow. One New York-based anti-vaccine group’s press release  proclaimed “Bill Gates: We are not Child Killers” and read:

The protest and press conference against Microsoft founder and Chairman Bill Gates challenges his controversial remarks on national TV that those who question vaccine safety “kill children.” The attendees are demanding an immediate apology from Gates. The press conference will take place outside the Microsoft Executive Offices at 1290 Avenue of the Americas (corner of 52nd Street) in Manhattan. These groups will hold additional protests in Manhattan, Long Beach and Omaha where Gates will be speaking publically.

Gates’s actual words, spoken in a February 4 CNN interview, were aimed at leaders in the anti-vaccine movement who mislead parents into leaving their children vulnerable to dangerous diseases.

Well, Dr. Wakefield has been shown to have used absolutely fraudulent data. He had a financial interest in some lawsuits, he created a fake paper, the journal allowed it to run. All the other studies were done, showed no connection whatsoever again and again and again. So it’s an absolute lie that has killed thousands of kids. Because the mothers who heard that lie, many of them didn’t have their kids take either pertussis or measles vaccine, and their children are dead today. And so the people who go and engage in those anti-vaccine efforts — you know, they, they kill children. It’s a very sad thing, because these vaccines are important.

At least one anti-vaccine press release called on “tens of thousands of outraged parents” to participate in a multi-city event.

The rally was organized by Louise Kuo Habakus and Mary Holland, authors of Vaccine Epidemic, which has sold about 1,300 copies. Holland is an anti-vaccine lawyer. Habakus is an anti-vaccine activist who can be seen here on stage with a guy who sang “Vaccine Gestapo” at last year’s anti-vaccine rally in Chicago’s Grant Park. Sample lyrics:

They have swastikas on their shoulders
They’re such patriotic soldiers
They’re like a militia in Montana
They’re a government agency in Atlanta
Vaccine gestapo! Vaccine gestapo!
Vaccine gestapo! Vaccine gestapo!

That event drew about 100 participants to hear disgraced former gastroenterologist Andrew Wakefield denounce vaccines.

A spokesperson for Gates emailed us today to say “The Bill & Melinda Gates Foundation believes in the strong evidence behind the efficacy and safety of vaccines. There is overwhelming medical consensus that autism is not caused by vaccines.”

The southeast corner of 6th Ave. and 52nd St. in Manhattan where not much happened today.

Motor vehicle accidents, suicides, and assaults in epilepsy: A population-based study

24 Feb

I seem to be in epidemiology mode today, so I decided to post this abstract that I found interesting. Are people with epilepsy more prone to car accidents or suicide? Apparently not. Are they more prone to being assaulted? Assaulted as in resulting in injury? Yes.

I am unclear how many factors they were testing, so it is difficult to know how much these could be by chance.

Motor vehicle accidents, suicides, and assaults in epilepsy: A population-based study.

Kwon C, Liu M, Quan H, Thoo V, Wiebe S, Jetté N.

From the Departments of Clinical Neurosciences (C.K., S.W., N.J.) and Community Health Sciences (H.Q.), University of Calgary, Calgary; Alberta Health Services (M.L.), Calgary; Dalhousie University (V.T.), Halifax, Canada; and Harvard School of Public Health (C.K.), Boston, MA.
Abstract

BACKGROUND: The goal of our study was to compare the incidence of motor vehicle accidents (MVA), attempted or completed suicides, and injuries inflicted by others between individuals with and without epilepsy.

METHODS: Individuals with and without epilepsy were identified using linked administrative databases between 1996 and 2003 in a Canadian health region with a 1.4 million population. We used a validated epilepsy case definition: anyone who had 2 physician claims, one hospitalization, or one emergency room visit coded with an International Classification of Diseases (ICD)-9-CM or ICD-10 epilepsy code any time during a 2-year period. Four subjects without epilepsy were matched to one patient with epilepsy by age (within 1 year) and sex. The incidence of MVAs, attempted or completed suicides, and inflicted injuries was assessed in 2003-2004. Outcomes were adjusted using the Elixhauser comorbidity index.

RESULTS: A total of 10,240 individuals with epilepsy and 40,960 individuals without epilepsy were identified. Mean age was 39.0 ± 21.3 years (range 0.12-99.4) and 48.5% were female. One-year odds ratios before and after adjustment for comorbidity were 1.83 (95% confidence interval [CI] 1.33-2.54) and 1.38 (95% CI 0.97-1.96) for MVAs, 4.32 (95% CI 2.79-6.69) and 1.32 (95% CI 0.81-2.15) for attempted or completed suicides, and 3.54 (95% CI 2.66-4.72) and 1.46 (95% CI 1.04-2.03) for injuries inflicted by others.

CONCLUSION: In this cohort-controlled population-based study, once important medical and psychiatric comorbidities were adjusted for, people with epilepsy were not more likely to attempt suicide or experience MVAs, but were still more likely to be assaulted compared to those without epilepsy.

Prevalence of intellectual disability: A meta-analysis of population-based studies

24 Feb

Autism prevalence gets a lot of discussion here and elsewhere on blogs. But what about other prevalence numbers? Say, for intellectual disability? This is important on its own in this discussion. Intellectual disability (ID) is more common amongst autistics than in the general population. In addition, it is worth noting that even with something like ID, prevalence values vary.

In general, the prevalence of ID is about 1%. Similar to autism prevalence. The prevalence of ID varies by country and by income, and by age.

Prevalence of intellectual disability: A meta-analysis of population-based studies

Abstract

Intellectual disability is an extremely stigmatizing condition and involves utilization of large public health resources, but most data about its burden is based on studies conducted in developed countries. The aim of this meta-analysis was to collate data from published literature and estimate the prevalence of intellectual disability across all such studies. The review includes studies published between 1980 and 2009, and includes data from populations that provided an overall estimate of the prevalence of intellectual disability. Meta-analysis was done using random effects to account for heterogeneity. Sub-group analyses were also done. The prevalence of intellectual disability across all 52 studies included in the meta-analysis was 10.37/1000 population. The estimates varied according to income group of the country of origin, the age-group of the study population, and study design. The highest rates were seen in countries from low- and middle income countries. Studies based on identification of cases by using psychological assessments or scales showed higher prevalence compared to those using standard diagnostic systems and disability instruments. Prevalence was higher among studies based on children/adolescents, compared to those on adults. Higher prevalence in low and middle income group countries is of concern given the limitations in available resources in such countries to manage intellectual disability. The importance of using standardized diagnostic systems to correctly estimate the burden is underlined. The public health and research implications of this meta-analysis have been discussed.
Research highlights

The prevalence of intellectual disability across the world is around 1%. The prevalence is almost two times more in low and middle income countries compared to high income countries. Highest prevalence was seen in child and adolescent population. Using standardized diagnostic instruments and disability measurements leads to lower estimates compared to simple psychological assessment tools even if confirmed by clinicians.

emphasis added.

As with autism prevalence, we need to look at these numbers in context: the culture of the country, the methods used, diagnostic criteria.

Whenever you hear someone say something like “One in 110 children born today will have autism” you are listening to someone who doesn’t really understand the “estimate” part of prevalence estimate.

Brief Report: Prevalence of Pervasive Developmental Disorder in Brazil: A Pilot Study

24 Feb

Real data on autism prevalence around the world is scant. Many countries do not track accurately (including the US) and few countries have reported on autism prevalence.

So, while this is only a “pilot study”, I was intrigued to read that someone was reporting on autism prevalence in Brazil:

Brief Report: Prevalence of Pervasive Developmental Disorder in Brazil: A Pilot Study.

Paula CS, Ribeiro SH, Fombonne E, Mercadante MT.

Developmental Disorder Post Graduation Program, Mackenzie Presbyterian University, Rua da Consolação, 930. Edifício 38 Secretaria de Pós-Graduação em Distúrbios do Desenvolvimento, São Paulo, SP, 01302-907, Brazil, csilvestrep09@gmail.com.
Abstract

This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. Case definition was based in a combination of standardized instruments and clinical evaluations by experts. The prevalence of PDD was 27.2/10,000 (95% CI: 17.6-36.8) and some hypotheses were raised to explain this low frequency. Clinical findings of PDD cases were consistent with previous data, such as, male preponderance, more children diagnosed with PDD-NOS than with autistic disorder, and half of them born from older mothers. Moreover, the study raised concerns about treatment of cases, because identification of PDD had been late and access to services has been very limited.

The prevalence is low: about 0.27% for all PDD’s. About 1/4 that of the US or the UK.

Just in this year (2011), 4 other papers have come out on autism prevalence:

Denmark and Australia: 0.685% and 0.51%, respectively.

Autism prevalence varies by race, even within a single US municipality (Atlanta). In the San Francisco Bay area, autism prevalence is about 0.47%, and again varies with race/ethnicity. Yes, the San Francisco bay area has a prevalence about 1/2 the national average.

While more of a review, this paper discusses how autism prevalence rates vary by country

Autism prevalence estimates vary. They vary with time, they vary with place, they vary with ethnicity, they vary with socio-economic status. I don’t think it is hopeless to try to pull causation inferences from prevalence data, even administrative prevalence data like education data or the CDDS data. It is hard though. There are obviously a number of factors at play. Many social factors included. And that makes it really hard to interpret what all these data mean.

As a final aside, for those trying to work these latest data from Brazil into the “vaccine hypothesis”, the vaccine schedule for Brazil is here. They have a lot of vaccines, including the birth dose of HepB and thimerosal containing vaccines. The low prevalence in this pilot study do not support the hypothesis.

Genetic explanation for why autism (apparently) affects more males than females

22 Feb

Firstly we should start by saying there is a strand to the debate that strongly indicates that autism in females is heavily underdiagnosed.

That said, interesting new research emerges from George Washington University.

The team basically looked at a gene implicated in autism called retinoic acid-related orphan receptor-alpha, or RORA (brains of autistic people make less of it than usual) and bathed it in two things.

Firstly they bathed human brain cells in an oestrogen mix and secondly they bathed different brain cells in DHT. The oestrogen _enhanced_ RORA production whereas the DHT _supressed_ it.

This is not to downplay the role that underdiagnosis in females very probably plays but it does show how genes affect autism directly.

Get ready for the flood of fetal gene screening

21 Feb

In a recent article in Nature, Henry T. Greely, proposes that the time when prenatal genetic screening may be commonplace is closer than, well, I thought.

The world’s news media was buzzing last week after researchers showed that a blood test for mothers could detect Down’s syndrome in their fetuses[1]. Last month, two research groups independently published proof that the fetal genotype — the genetic status at a given locus — can be derived for thousands of sites from samples of fetal DNA with just a 10-millilitre blood draw from a pregnant woman[2, 3].

[1] Chiu, R. W. K. et al. Br. Med. J. doi: 10.1136/bmj.c7401 (2011).

[2] Lo, Y. M. D. et al. Sci. Transl. Med. 2, 61ra91 (2010).

[3] Fan, H. C. & Quake, S. R. Nature Precedings doi:10.1038/npre.2010.5373.1 (2010).

Until now, the main prenatal testing has been for Down Syndrome. It is not common:

Prenatal genetic testing has been clinically available since the late 1960s, but the costs, inconvenience and especially the miscarriage risks have limited its use. Each year, less than 2% of pregnant women in the United States undergo amniocentesis (in which a small amount of amniotic fluid containing fetal cells is taken for analysis) or chorionic villus sampling (CVS — in which fetal tissue is extracted from the placenta). Both procedures increase the risk of miscarriage. Until now, any given sample could be tested for only one or two conditions, typically chromosomal abnormalities such as trisomy 21, the cause of Down’s syndrome.

It is uncommon, but it is offered in high risk situations (older mothers). Since the test has been offered, the prevalence of Down Syndrome has dropped significantly. This in spite of the fact that older mothers are more common now.

Amniocentesis is obviously invasive, resulting in risk to the unborn child. But a blood draw would be a non-invasive prenatal genetic diagnosis (NIPD).

The potential of NIPD goes way beyond Rhesus screening. Two of the leading researchers in cell-free fetal DNA testing — Dennis Lo of the University of Hong Kong and Steve Quake of Stanford University in California — use different methods to analyse fetal cell-free DNA from maternal serum. Each has demonstrated the ability to detect aneuploidies — missing or extra chromosomes, such as in trisomy 21 (refs 5, 6). Last month, both researchers published proof that the fetal genotype could be derived for thousands of sites from cell-free fetal DNA2, 3 — demonstrating the possibility of using maternal blood to test for all fetal genetic traits.

The methods demonstrated are already interesting commercial firms:

Commercial firms are already interested. Sequenom in San Diego, California, is working with Lo; another, Artemis Health of Menlo Park, California, is working with Quake; and still others are also exploring the technology. For-profit development of these methods seems likely within five years, at least for chromosomal abnormalities, such as trisomy 21, and possibly for single-gene traits.

My insurance plan will pay for prenatal genetic testing, but not for genetic testing of a child. I find that thought a bit chilling.

Until now, prenatal genetic testing has been relatively uncommon. The ethics discussions have been largely academic. Important, but academic. The time for academic discussions of the ethics is drawing to a close.

Professional organizations, in medicine and in genetics, need to get involved, both in training their members about these technologies and in beginning to consider guidelines for their use, especially with regard to informed consent. Regulators, companies and consumer advocates need to be talking about pathways for assuring the safety, efficacy and quality of NIPD testing. In the United States, the Food and Drug Administration should start that process immediately. And it is time for ethics commissions, such as the US Presidential Commission for the Study of Bioethical Issues, to report on these issues.

Most importantly, we need to start conversations, between all those concerned, about the limits, if any, to place on this powerful technology. Whether we view NIPD gladly as a way to reduce human suffering, warily as a step towards a eugenic dystopia, or as a mix of both, we should agree that the better we prepare, the more likely we are to avoid the worst misuses of this potentially transformative technology.

What disabilities will eventually have genetic screening possible? How will we as a society take on the ethical challenges? If the drop in Down Syndrome is any indication, I think there is reason to take this discussion very seriously. Now.

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