[News release] Closer than ever to a personalized treatment solution for intellectual disability — ScienceDaily
From the press release
JUPITER, FL – January 21, 2015 – Scientists from the Florida campus of The Scripps Research Institute (TSRI) have produced an approach that protects animal models against a type of genetic disruption that causes intellectual disability, including serious memory impairments and altered anxiety levels.
The findings, which focus on treating the effects of mutations to a gene known as Syngap1, have been published online ahead of print by the journal Biological Psychiatry.
“Our hope is that these studies will eventually lead to a therapy specifically designed for patients with psychiatric disorders caused by damagingSyngap1 mutations,” said Gavin Rumbaugh, a TSRI associate professor who led the study. “Our model shows that the early developmental period is the critical time to treat this type of genetic disorder.”
Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.
In the new study, the researchers examined the effect of damagingSyngap1 mutations during development and found that the mutations disrupt a critical period of neuronal growth—a period between the first and third postnatal weeks in mouse models. “We found that a certain type of cortical neuron grows too quickly in early development, which then leads to the premature formation of certain types of neural circuits,” said Research Associate Massimilano Aceti, first author of the study.
The researchers reasoned that this process might cause permanent errors in brain connectivity and that they might be able to head off these effects by enhancing the Syngap1 protein in the newborn mutant mice. Indeed, they found that a subset of neurons were misconnected in the adult mutant mice, suggesting that early growth of neurons can lead to life-long neural circuit connectivity problems. Then, using advanced genetic techniques to raise Syngap1 protein levels in newborn mutant mice, the researchers found this strategy completely protected the mice only when the approach was started before this critical developmental window opened.
As a result of these studies, Rumbaugh and his colleagues are now developing a drug-screening program to look for drug-like compounds that could restore levels of Syngap1 protein in defective neurons. They hope that, as personalized medicine advances, such a therapy could ultimately be tailored to patients based on their genotype.
In addition to Rumbaugh and Aceti, other authors of the study, “Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly,” include Thomas K. Creson, Thomas Vaissiere, Camilo Rojas, Wen-Chin Huang, Ya-Xian Wang, Ronald S. Petralia, Damon T. Page and Courtney A. Miller of TSRI. For more information, seehttp://www.biologicalpsychiatryjournal.com/article/S0006-3223%2814%2900593-9/abstract
The potential impact of exposure to low levels of mercury on the developing brain — specifically by women consuming fish during pregnancy — has long been the source of concern and some have argued that the chemical may be responsible for behavioral disorders such as autism. However, a new study that draws upon more than 30 years of research in the Republic of Seychelles reports that there is no association between pre-natal mercury exposure and autism-like behaviors.
- Mercury Exposure Is Not Linked To Autism, After All; Pregnant Women Can Eat Up To 12 Meals Of Fish Weekly With No Risks (medicaldaily.com)
- Could autism be linked to pollution? (wwlp.com)
- Ultrasound and Autism: Association, Link, or Coincidence? (fetalsonosafety.com)
- Causes of Autism During Pregnancy: Air Pollution Doubles the Risk – Study (latinospost.com)
The Anti-Vaccine Argument – good essay placing vaccines in an evolutionary context
David L. Katz, MD, MPH, Director, Yale University Prevention Research Center
More Related articles (all sides!!)
- Canada: Jenny McCarthy’s new View job protested by Toronto Public Health (crofsblogs.typepad.com)
- Jenny McCarthy defeats vaccine fanatics to join ABC’s The View as co-host (dprogram.net)
- As Jenny McCarthy Joins The View Will More Children Die From Lack Of Vaccination? (guardianlv.com)
- Anger Over Anti-Vaccine Jenny McCarthy as View Host (newser.com)
- Toronto Public Health trying to get Jenny McCarthy kicked off The View (sunnewsnetwork.ca)
- Jenny McCarthy Joins The View And Wants To Talk To You About Vaccines (thegloss.com)
- Jenny McCarthy defeats vaccine fanatics to join ABC’s The View as co-host (therefusers.com)
- Toronto Public Health wants host booted from American talk show (cp24.com)
- Jenny McCarthy Is the New Girl at ‘The View’ (wwtdd.com)
There’s been a lot in the news recently about the decision to hire Jenny McCarthy to replace Elizabeth Hasselback on “The View”. I cant say that I’m particularly sad to see Hasselback go, as I was never a fan of her conservative “values” but the hiring of Jenny McCarthy – as has been pointed out by many – amounts to a public health nightmare.
For those of you who don’t know, McCarthy is a staunch believer that vaccines caused her son to have autism. Furthermore, she is an outspoken advocate for not vaccinating children and both encourages and supports parents who choose not to do so. McCarthy is a strong supporter of UK physician Andrew Wakefield, who published a study in 1998 showing that the measles, mumps, and rubella vaccine causes autism. That very study has been discredited as a fraud, and follow up studies have disproved Wakefield’s claim. Despite…
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The Board of Trustees of the American Psychiatric Association has given its final approval to a deeply flawed DSM 5 containing many changes that seem clearly unsafe and scientifically unsound. My best advice to clinicians, to the press, and to the general public – be skeptical and don’t follow DSM 5 blindly down a road likely to lead to massive over-diagnosis and harmful over-medication.
Just ignore the ten changes that make no sense….
…DSM 5 has neither been able to self correct nor willing to heed the advice of outsiders. It has instead created a mostly closed shop- circling the wagons and deaf to the repeated and widespread warnings that it would lead to massive misdiagnosis. Fortunately, some of its most egregiously risky and unsupportable proposals were eventually dropped under great external pressure (most notably ‘psychosis risk’, mixed anxiety/depression, internet and sex addiction, rape as a mental disorder, ‘hebephilia’, cumbersomepersonality ratings, and sharply lowered thresholds for many existing disorders). But APA stubbornly refused to sponsor any independent review and has given final approval to the ten reckless and untested ideas that are summarized below….
1) Disruptive Mood Dysregulation Disorder: DSM 5 will turn temper tantrums into a mental disorder- a puzzling decision based on the work of only one research group. We have no idea whatever how this untested new diagnosis will play out in real life practice settings, but my fear is that it will exacerbate, not relieve, the already excessive and inappropriate use of medication in young children. During the past two decades, child psychiatry has already provoked three fads- a tripling of Attention Deficit Disorder, a more than twenty-times increase in Autistic Disorder, and a forty-times increase inchildhood Bipolar Disorder. The field should have felt chastened by this sorry track record and should engage itself now in the crucial task of educating practitioners and the public about the difficulty of accurately diagnosing children and the risks of over- medicating them. DSM 5 should not be adding a new disorder likely to result in a new fad and even more inappropriate medication use in vulnerable children.
2) Normal grief will become Major Depressive Disorder, thus medicalizing and trivializing our expectable and necessary emotional reactions to the loss of a loved one and substituting pills and superficial medical rituals for the deep consolations of family, friends, religion, and the resiliency that comes with time and the acceptance of the limitations of life.
3) The everyday forgetting characteristic of old age will now be misdiagnosed as Minor Neurocognitive Disorder, creating a huge false positive population of people who are not at special risk for dementia. Since there is no effective treatment for this ‘condition’ (or for dementia), the label provides absolutely no benefit (while creating great anxiety) even for those at true risk for later developing dementia. It is a dead loss for the many who will be mislabeled.
4) DSM 5 will likely trigger a fad of Adult Attention Deficit Disorder leading to widespread misuse of stimulant drugs for performance enhancement and recreation and contributing to the already large illegal secondary market in diverted prescription drugs.
5) Excessive eating 12 times in 3 months is no longer just a manifestation of gluttony and the easy availability of really great tasting food. DSM 5 has instead turned it into a psychiatric illness called Binge Eating Disorder.
6) The changes in the DSM 5 definition of Autism will result in lowered rates– 10% according to estimates by the DSM 5 work group, perhaps 50% according to outside research groups. This reduction can be seen as beneficial in the sense that the diagnosis of Autism will be more accurate and specific- but advocates understandably fear a disruption in needed school services. Here the DSM 5 problem is not so much a bad decision, but the misleading promises that it will have no impact on rates of disorder or of service delivery. School services should be tied more to educational need, less to a controversial psychiatric diagnosis created for clinical (not educational) purposes and whose rate is so sensitive to small changes in definition and assessment.
7) First time substance abusers will be lumped in definitionally in with hard core addicts despite their very different treatment needs and prognosis and the stigma this will cause.
8 ) DSM 5 has created a slippery slope by introducing the concept of Behavioral Addictions that eventually can spread to make a mental disorder of everything we like to do a lot. Watch out for careless overdiagnosis of internet and sex addiction and the development of lucrative treatment programs to exploit these new markets.
9) DSM 5 obscures the already fuzzy boundary been Generalized Anxiety Disorder and the worries of everyday life. Small changes in definition can create millions of anxious new ‘patients’ and expand the already widespread practice of inappropriately prescribing addicting anti-anxiety medications.
10) DSM 5 has opened the gate even further to the already existing problem of misdiagnosis of PTSD in forensic settings.
DSM 5 has dropped its pretension to being a paradigm shift in psychiatric diagnosis and instead (in a dramatic 180 degree turn) now makes the equally misleading claim that it is a conservative document that will have minimal impact on the rates of psychiatric diagnosis and in the consequent provision of inappropriate treatment.
- Can Too Much Preventive Care Be Hazardous to Your Health? (TheHealthCareBlog)
- An Interview with Allen Frances M.D.: Making the DSM-5 WORSE? (educationviews.org)
- Mislabeling Medical Illness As Mental Disorder (psychologytoday.com)
- Gender Identity Disorder Officially Removed From DSM-5 (lezgetreal.com)
- The DSM-5 has been finalised (mindhacks.com)
- The DSM-5: Anachronistic Before Its Time – Boycott the DSM-5 (madinamerica.com)
- Confused About the Changes in the DSM-5, and What it Means if Your Child has Asperger’s? (guardianlv.com)
- Hoarding to Receive New Definition in Psychiatric Manual (nydailynews.com)
- New additions to Diagnostic and Statistical Manual of Mental Disorders (DSM-5) (casesblog.blogspot.com)
- Big Changes In Psychiatry’s ‘Bible’ Of Disorders (boston.cbslocal.com)
- Final DSM 5 Approved by American Psychiatric Association… (psychcentral.com)
An editorial published April 25 in the journal Environmental Health Perspectives (http://ehp03.niehs.nih.gov/article/info%3Adoi%2F10.1289%2Fehp.1104285) calls for increased research to identify possible environmental causes of autism and other neurodevelopmental disorders in America’s children and presents a list of ten target chemicals including which are considered highly likely to contribute to these conditions.
Philip Landrigan, MD, MSc, a leader in children’s environmental health and Director of the Children’s Environmental Health Center (CEHC) at Mount Sinai School of Medicine, co-authored the editorial, entitled “A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities,” along with Luca Lambertini, PhD, MPH, MSc, Assistant Professor of Preventive Medicine at Mount Sinai and Linda Birnbaum, Director of the National Institute OF Environmental Health Sciences.
The editorial was published alongside four other papers — each suggesting a link between toxic chemicals and autism. Both the editorial and the papers originated at a conference hosted by CEHC in December 2010.
“A large number of the chemicals in widest use have not undergone even minimal assessment of potential toxicity and this is of great concern,” says Dr. Landrigan. “Knowledge of environmental causes of neurodevelopmental disorders is critically important because they are potentially preventable.”……
CEHC developed the list of ten chemicals found in consumer products that are suspected to contribute to autism and learning disabilities to guide a research strategy to discover potentially preventable environmental causes. The top ten chemicals are:
4. Organophosphate pesticides
5. Organochlorine pesticides
6. Endocrine disruptors
7. Automotive exhaust
8. Polycyclic aromatic hydrocarbons
9. Brominated flame retardants
10. Perfluorinated compounds
In addition to the editorial, the other four papers also call for increased research to identify the possible environmental causes of autism in America’s children. The first paper, written by a team at the University of Wisconsin — Milwaukee, found preliminary evidence linking smoking during pregnancy to Asperger’s disorder and other forms of high-functioning autism. Two papers, written by researchers at the University of California — Davis, show that PCBs disrupt early brain development. The final paper, also by a team at UC — Davis, suggests further exploring the link between pesticide exposure and autism.
- List of the top 10 toxic chemicals suspected to cause autism and learning disabilities (eurekalert.org)
- List of the top 10 toxic chemicals suspected to cause autism and learning disabilities (medicalxpress.com)
- Why Is Autism So Drastically on the Rise? An Environmental Horror Story (talesfromthelou.wordpress.com)
- Autism Q & A: Is autism really increasing? (babiestobigkids.wordpress.com)
- April is National Autism Awareness Month (hslnews.wordpress.com)
Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found. The researchers said the study is the first to link genetics and epigenetics with exposure to a flame retardant chemical….
- Common flame retardant linked to social, behavioral and learning deficits (medicalxpress.com)
- Link Between Common Flame Retardant And Social, Behavioral And Learning Deficits (medicalnewstoday.com)
Augmented Play Helps Children With Autism (ScienceDaily)
The PBS NewsHour is launching a special series of reports, both on-air and online, about a puzzling disorder that touches many lives across the U.S.: Autism Now will take a unique — and uniquely personal — look at how the condition impacts families, schools and communities.
As former anchor Robert MacNeil explains in a preview conversation with Hari Sreenivasan, the subject that drew him back to the NewsHour is one that resonates deeply with his own family and the families of thousands of others. MacNeil’s 6-year-old grandson, Nick, has autism….
The series consists of six parts. For the launch, Jim Lehrer will debrief MacNeil about the series on the NewsHour broadcast on Friday, April 15. The first full report will then air on Monday, April 18.
But, we’re trying something new with these reports on the NewsHour’s website.
Starting Friday, April 15, we’ll debut each report online a day before it airs on the NewsHour’s broadcast. So you can watch part one (about MacNeil’s grandson) online on Friday, April 15, or on-air on Monday, April 18. The second report, about Autism’s prevalence, will be posted online on Monday, April 18, by 6 p.m. ET. You can also watch that report on our site, via ouriPhone app or on our YouTube channel and of course – or watch on Tuesday’s NewsHour broadcast. We’ll follow that schedule every day during the series: We’ll post the next report in the series by 6 p.m. ET on the NewsHour website.
Here’s the lineup:
Part One: Introduction to Nick and Autism as a whole-body experience | Robert MacNeil brings viewers along on a visit with his daughter and grandson Nick in Cambridge, Mass., to see how autism affects the whole family. | Online April 15, on-air April 18
Part Two: Autism Prevalence | Why are the numbers of children with autism increasing? Robert MacNeil visits with experts at the University of California, Davis MIND Institute to see the wide range of different behaviors that comprise the autism spectrum | Online April 18, on-air April 19
Part Three: Autism’s Causes | The rise in autism numbers has caused a surge in research to find the causes. Robert MacNeil speaks with four leading researchers. | Online April 19, on-air April 20
Part Four: Autism Treatment | School systems often bear most of the burden of treating children with autism through educational tools. Robert MacNeil looks at how two schools in the New York City area handle teaching children and teens with autism. | Online April 20, on-air April 21
Part Five: Adults With Autism | Although federal law mandates educational services for children with autism, there are virtually no services when they become adults. Robert MacNeil profiles a young man in New Jersey facing an uncertain future. | Online April 21, on-air April 22
Part Six: Autism Policy | We’ll conclude the Autism Now reports with a discussion of public policy issues raised by the series. | Online April 22, On-Air April 25
We have several resources and opportunities to engage with the series online. These include:
Autism 101 | A breakdown of the basics and a list of useful resources.
Autism Costs | A look how families often struggle with the costs of autism, and how care and costs can vary depending on where you live.
Autism’s First Child | A new look at Caren Zucker and John Donvan’s profile of the first child diagnosed with autism as reported in The Atlantic.
- Autism (MedlinePlus) with links as
- Autism and Autism Spectrum Disorders (ASDs)(National Institute of Child Health and Human Development)
- Autism Spectrum Disorders (Pervasive Developmental Disorders)(National Institute of Mental Health)
- Autism(National Institute of Neurological Disorders and Stroke)
- Autism Screening and Diagnosis(Centers for Disease Control and Prevention)
- Signs and Symptoms of Autism(Centers for Disease Control and Prevention)
- Autism (healthfinder.org)
- Autism Society: Improving the Lives of All Affected by Autism
- Left Brain Right Brain – Autism News Science and Opinion
- Autism Spectrum Disorders (US Centers for Disease Prevention and Control)
- Autism Source: Find local resources, providers, services, and support
- Autism Speaks
- Autistic community concerned about Robert MacNeil’s upcoming PBS special “Autism Today” (leftbrainrightbrain.co.uk)
- Robert MacNeil returns to PBS NEWSHOUR to report on Autism Today (leftbrainrightbrain.co.uk)
- Prevalence of autism in South Korea estimated at 1 in 38 children (Science Daily, May 9, 2011)
- MacNeil returns to PBS to tell story of autism (seattletimes.nwsource.com)
- April is Autism Awareness Month (independentlivingblog.com)
- Ask the Experts About Autism (consults.blogs.nytimes.com)
- Autism Reality: Autism Is A Disorder (autisminnb.blogspot.com)
- 5-Minute Screen Identifies Subtle Signs of Autism in 1-Year Olds (NIH News)(April 2011)