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Alleged Cases of Vaccine Encephalopathy Rediagnosed Years Later as Dravet Syndrome

19 Aug

A case study released this week looks at 5 children who were considered to have vaccine encephalopathy caused by pertussis vaccinations. In this case study, all five children were found to have Dravet Syndrome, a genetic condition involving how the brain uses sodium.

The phrasing of “alleged cases” will likely draw some critique. Parents are very sensitive to the accusation that they didn’t see what happened, in this case seizures and regression following vaccination. Alleged in this case doesn’t challenge what the parents saw, but what it means. It appears that individuals with Dravert syndrome don’t get through childhood without regression (there don’t appear to be cases with the mutation and no syndrome in adults). In the words of the vaccine court, these individuals would have Dravert’s syndrome in any event, making it impossible to show that vaccines are the causation in fact.

Dr. Vincent Ianelli reports over at pediatrics.about.com that the cases include:

14-year-old mentally retarded boy with autistic features, who was a healthy infant until he got his vaccines when he was 7 months old
20-year-old with delayed development and autistic-like features who began having seizures right after getting vaccines at 2 months
2-year-old with a mild expressive speech delay who developed seizures after getting vaccines at age 4 months
4-year-old with “slowing development” who began having seizures after the six month vaccines
3-year-old regressed development and autistic-like features who began having seizures after getting vaccines at age 4 months

In these five case, genetic testing resulted in a diagnosis of Dravet Syndrome.

From Dr. Ianelli:

Dravet syndrome is a rare, genetic cause of encephalopathy that causes seizures that are hard to control and developmental delays.

Since fever is the usual trigger of the first seizure and subsequent seizures, it is important that children with Dravet syndrome get all of their vaccines, since natural infections will cause more fever and put them at risk for more seizures. In another study, “A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome,” only 16% of patients with Dravet syndrome had a vaccine related seizure as their first manifestation.

The researchers also state “that although vaccination might trigger an earlier onset of the presenting symptoms of Dravet syndrome, there is no evidence that the outcomes, in terms of subsequent seizure types or intellect, are any different between those patients with Dravet syndrome whose symptoms started within 2 days of vaccination and those whose symptom onset was not related temporally to vaccination.”

Here is the abstract:

Dravet syndrome is a rare epileptic encephalopathy linked to mutations in SCN1A (neuronal sodium channel ?1 subunit) and characterized by an onset in infancy with polymorphous seizure types and developmental decline. It was reported recently that a proportion of patients previously diagnosed with alleged vaccine encephalopathy might possess SCN1A mutations and clinical histories that enabled a diagnosis of Dravet syndrome, but these results have not been replicated. We present here the cases of 5 children who presented for epilepsy care with presumed parental diagnoses of alleged vaccine encephalopathy caused by pertussis vaccinations in infancy. Their conditions were all rediagnosed years later, with the support of genetic testing, as Dravet syndrome. We hope that these cases will raise awareness of Dravet syndrome among health care providers who care for children and adolescents and aid in earlier recognition and diagnosis.

This isn’t the first work linking alleged vaccine encephalopathy with Dravet syndrome in some cases. Last year a study in The Lancet, Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study (also summarized in Pertussis Vaccination Triggers Dravet Syndrome in Predisposed Children) came to the conclusion:

Vaccination might trigger earlier onset of Dravet syndrome in children who, because of an SCN1A mutation, are destined to develop the disease. However, vaccination should not be withheld from children with SCN1A mutations because we found no evidence that vaccinations before or after disease onset affect outcome.

The anchor author on that study has a previous study, De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. They found 11 of 14 patients with alleged vaccine encephalopathy had Dravet syndrome (SMEI). Here is the abstract:

BACKGROUND:
Vaccination, particularly for pertussis, has been implicated as a direct cause of an encephalopathy with refractory seizures and intellectual impairment. We postulated that cases of so-called vaccine encephalopathy could have mutations in the neuronal sodium channel alpha1 subunit gene (SCN1A) because of a clinical resemblance to severe myoclonic epilepsy of infancy (SMEI) for which such mutations have been identified.

METHODS:
We retrospectively studied 14 patients with alleged vaccine encephalopathy in whom the first seizure occurred within 72 h of vaccination. We reviewed the relation to vaccination from source records and assessed the specific epilepsy phenotype. Mutations in SCN1A were identified by PCR amplification and denaturing high performance liquid chromatography analysis, with subsequent sequencing. Parental DNA was examined to ascertain the origin of the mutation.

FINDINGS:
SCN1A mutations were identified in 11 of 14 patients with alleged vaccine encephalopathy; a diagnosis of a specific epilepsy syndrome was made in all 14 cases. Five mutations predicted truncation of the protein and six were missense in conserved regions of the molecule. In all nine cases where parental DNA was available the mutations arose de novo. Clinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.

INTERPRETATION:
Cases of alleged vaccine encephalopathy could in fact be a genetically determined epileptic encephalopathy that arose de novo. These findings have important clinical implications for diagnosis and management of encephalopathy and, if confirmed in other cohorts, major societal implications for the general acceptance of vaccination.

A recent study out of Germany took a bit more cautious interpretation: A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. But the abstract does not address the question of whether outcome depends upon whether the first seizure is possibly vaccine related or not.

At least two cases of have been heard in the vaccine court claiming vaccine injury in children with Dravet syndrome. Both cases (here and here) were denied compensation.

More information about Dravet syndrome can be found at the NIH website, and dravet.org

Autism Science Foundation issues new request for scientific grant proposals

18 Aug

The Autism Science Foundation funds research. They have funded predoctoral and postdoctoral researchers and are seeking proposals for this year’s round of grants. Personally, I like this focus. I like the idea of bringing good new people into autism research.

Here is the press release:

AUTISM SCIENCE FOUNDATION ISSUES NEW REQUEST FOR SCIENTIFIC GRANT PROPOSALS
Grants will fund pre- and postdoctoral autism research fellowships

(August 18, 2011—New York, NY)–The Autism Science Foundation, a not-for-profit organization dedicated to supporting and funding autism research, today announced that it had issued a new request for scientific proposals. ASF is inviting applications for Pre- and Postdoctoral Training Awards from graduate students, medical students and postdoctoral fellows interested in pursuing careers in basic and clinical research relevant to autism spectrum disorders. In the past two years, ASF has funded over $400,000 in pre and postdoctoral grants.

“This is one of our most important funding mechanisms” said Alison Singer, president of the Autism Science Foundation. “The pre- and postdoctoral fellowships not only build our knowledge about what causes autism and how best to treat it, but also build our future by encouraging outstanding young investigators to dedicate their careers to autism research.”

“Outstanding research is the greatest gift we can offer our families” said Karen London, ASF co-founder. “We are so grateful to all our donors and volunteers who have come together to support autism research and who make these grants possible.”

The proposed training must be scientifically linked to autism. Autism Science Foundation will consider for training purposes all areas of related basic and clinical research including but not limited to: human behavior across the lifespan (language, learning, communication, social function, epilepsy, sleep, repetitive disorders), neurobiology (anatomy, development, neuro-imaging), pharmacology, neuropathology, human genetics/genomics, immunology, molecular and cellular mechanisms, studies employing model organisms and systems, and studies of treatment and service delivery. Applications must be received by November 18, 2011.

Additional information about the RFA can be found at www.autismsciencefoundation.org/ApplyForaGrant.html
The Autism Science Foundation is a 501(c)(3) public charity. Its mission is to support autism research by providing funding to scientists and organizations conducting, facilitating, publicizing and disseminating autism research. The organization also provides information about autism to
the general public and serves to increase awareness of autism spectrum disorders and the needs of individuals and families affected by autism.
Grant applications will be reviewed by members of ASF’s Scientific Advisory Board (SAB) and other highly qualified reviewers. Current SAB members include Dr. Joseph Buxbaum (Mt. Sinai School of Medicine); Dr. Emanuel DiCicco-Bloom (UMDNJ-Robert Wood Johnson Medical School); Dr. Sharon Humiston (University of Rochester); Dr. Bryan King (University of Washington, Seattle); Dr. Ami Klin (Emory University); Dr. Harold Koplewicz (The Child Mind Institute); Dr. Eric London (New York Institute for Basic Research); Dr. Catherine Lord (New York Institute for Brain Development); Dr. David Mandell (University of Pennsylvania/CHOP); and Dr. Matthew State (Yale Medical School).

To learn more about the Autism Science Foundation’s grant programs, and to read about projects funded through this mechanism in prior years, visit www.autismsciencefoundation.org/ApplyForaGrant.html

Media Contact Info:

Dawn Crawford
Autism Science Foundation
dcrawford@autismsciencefoundation.org

The Autism Science Foundation has posted this to their blog: ASF Issues New Request for Scientific Grant Proposals: Grants will fund pre- and postdoctoral autism research fellowships

Why is Autism Speaks sponsoring a conference featuring Andrew Wakefield?

18 Aug

It’s no secret that the National Autism Association is a staunch supporter of Andrew Wakefield. Mr. Wakefield, of course, is the researcher whose work on MMR and autistic children promoted the vaccine/autism link. Mr. Wakefield’s work was fraught with ethical lapses and research fraud. In short, from my perspective, Mr. Wakefield may rank as the person who has caused the most harm within the autism communities in recent decades.

Check the speaker list for the upcoming NAA conference. I’ll draw your attention to two points. First, Andrew Wakefield is scheduled to speak. Second, Autism Speaks is listed as a sponsor of the conference, sharing space with an HBOT company and a mail-order medical laboratory.

Mr. Wakefield is scheduled to speak about his next book. He has been involved with a family in Arizona who are battling child protective services. Here is the blurb on his upcoming talk:

Hoping for Perpetual Sunshine

This presentation is the subject of a new book coming out the spring of 2012. It deals with the hazards of pursuing a diagnosis of Munchausen Syndrome by Proxy (MSBP) in children with an Autistic Spectrum Disorder (ASD), particularly those with gastrointestinal (GI) disease and/or dysfunction. Specifically, it reviews the symptomatic presentation of GI disorders and, the frequency and nature of GI disease in affected children. It discusses the history of MSBP and briefly reviews alleged cases involving “factitious” GI symptoms. The main part of the talk will describe the experience of one family, deconstructing the evidence against the parents and their alleged fabrication of their children’s health issues, in order to identify not only the shortcomings of the diagnosis itself, but also the systematic problems that arise out of institutionalized ignorance. Deficiencies on the part of Social Services, Child Protective Services, the judiciary, and the medical profession, are identified and analyzed in respect of the published science on the presentation, pathogenesis, and treatment of autism.

Autism Speaks has a choice in where to spend their money and where to spend their reputation. Sponsoring a conference which brings Andrew Wakefield to speak to a segment of the autism community is not a wise choice, in my opinion.

Study Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

16 Aug

It is known that the chances of having an autistic child are higher for families who already have an autistic child. This is the “recurrence risk”. In the past, the recurrence risk has been estimated at between 3 and 10%. A study just out (and discussed somewhat yesterday) puts the risk at something closer to 20% (18.7%). This is a fairly large study, where they monitored the baby siblings in families with an autistic child. They were watching these baby sibs and testing them to see which ones had an autism spectrum disorder (ASD). This makes this study much more powerful in that they are much less likely to miss any ASD baby sibs.

Here is the abstract:

OBJECTIVE: The recurrence risk of autism spectrum disorders (ASD) is estimated to be between 3% and 10%, but previous research was limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors. This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD.
METHODS: A prospective longitudinal study of infants at risk for ASD was conducted by a multisite international network, the Baby Siblings Research Consortium. Infants (n=664) with an older biological sibling with ASD were followed from early in life to 36 months, when they were classified as having or not having ASD. An ASD classification required surpassing the cutoff of the Autism Diagnostic Observation Schedule and receiving a clinical diagnosis from an expert clinician.
RESULTS: A total of 18.7% of the infants developed ASD. Infant gender and the presence of >1 older affected sibling were significant predictors of ASD outcome, and there was an almost threefold increase in risk for male subjects and an additional twofold increase in risk if there was >1 older affected sibling. The age of the infant at study enrollment, the gender and functioning level of the infant’s older sibling, and other demographic factors did not predict ASD outcome.
CONCLUSIONS: The sibling recurrence rate of ASD is higher than suggested by previous estimates. The size of the current sample and prospective nature of data collection minimized many limitations of previous studies of sibling recurrence. Clinical implications, including genetic counseling, are discussed.

The full paper is free online.

Since this was already presented here and elsewhere, I’ll point out a few findings that I found interesting:

1) 41% of the baby sibs received autistic disorder diagnoses. The remaining 59% received PDD-NOS diagnoses.
2) The recurrence risk did not depend on the “functioning status” or “severity” of the autism for the first child. They used ADOS and IQ scores to measure “severity”.
3) the gender of the first autistic child does not increase the recurrence risk. So, if a family has an autistic daughter, the recurrence risk is the same as if the autistic child is a son. My recollection is that previous studies indicated a high recurrence risk if the older sibling was a daughter.

Autism Baby Siblings Study: recurrence risk 19%

15 Aug

Results of the MIND Institute’s baby sibling study have been published in the journal Pediatrics. The study puts the recurrence risk of autism at 19%. In other words, a family with one autistic child has, on average, a 19% chance that a subsequent child will be autistic. The study authors stress that the risk may be higher in some families and lower in others.

More discussion can be found in various news outlets carrying the story, including

http://m.heraldextra.com/news/science/health-med-fit/article_a90c6549-3444-5b6a-800a-85aba7234914.html

Subsequent births in families of children with disabilities: using demographic data to examine parents’ reproductive patterns.

14 Aug

A team at Vanderbilt University has looked into the question of whether families with disabled children are more or less likely to have more kids. They studied families with children with Down Syndrome and Spina Bifida. The reasons for this was that they could track these directly from the birth records. Disabilities like autism or intellectual disability are not diagnosed until later in life and, thus, would not be in the birth records.

The researchers found that this group of parents were more likely to have one ore more addtional children than parents whose children did not have these disabilities. We can speculate as to the reasons for this. An obvious speculation is the desire to have more siblings who can help nurture the disabled sibling in childhood, and the desire to have additional siblings to help advocate for the disabled sibling after the parents pass.

I would be very interested in whether this tendency for subsequent children would be true for families with an autistic child. There is a very different set of circumstances there. The recurrence risk for autism (or ASD’s) is high, about 20%. Also, there is no prenatal test as there is with Down Syndrome or Spina Bifidia. The counter argument is that given that autism is not diagnosed until later in life (3 years or older is not uncomon), the family might have made the decision to have subsequent children before learning of the child’s disability, or, at least, the specific nature of the disability.

Subsequent births in families of children with disabilities: using demographic data to examine parents’ reproductive patterns.

Abstract

The authors determined family reproductive patterns after the birth of a child with (vs. without) a disability. Using Tennessee birth records, the authors examined families of children with Down syndrome (N=1,123), spina bifida (N=368), and population group (N=734,189). Families of children with Down syndrome and with spina bifida were more likely to have subsequent children and larger family sizes than the population group. When a 1st-born target child was born, 28.8% of families had a 2nd child in the population group compared with 37.1% and 45.7% when the child had spina bifida or Down syndrome, respectively. Families of children with disabilities were more likely to have subsequent children regardless of maternal race, marital status, and educational level.

A week of bad news

12 Aug

The past week has been a busy one. For me, personally, as you might have surmised from the lack of posts for a few days. But, in terms of news stories, specifically bad news stories, it has been busy.

Consider this one: Karen McCarron Seeks New Trial, Convicted of Killing Autistic Daughter. This article by Kristina Chew discusses a news story: Convicted child killer petitions court for new trial.

The story of Katie McCarron was discussed a great deal around the time that I was coming online to look for information. Here’s how the Star summarizes the story:

Five years ago, Karen McCarron, an Illinois pathologist, suffocated her three-year-daughter Katherine “Katie” McCarron with a plastic bag in her mother’s house. McCarron then drove the body of her daughter back home and put her to bed as if she were asleep. She was found guilty of killing Katie in 2008, sentenced to 36 years in prison and is incarcerated at the Dwight Correctional Center.

It is just a horrible story of a beautiful little girl who should be growing up. Back when this story broke, it affected many, including Kev and others on the Autism Hub, a great deal. He wrote about the story (see articles under the category Katie)and ended up in communication with Katie’s grandfather, Mike McCarron. Mike responded to the Autism Hub (From Mike McCarron to the Autism Hub).

Mike, I wish your family peace. I wish I had more to offer.

In another news story discussed by Kristina, Mother Kills Self, Autistic Son, In Despair Over School Placement, Kristina writes:

On August 2, the bodies of psychiatrist Margaret Jensvold and her 13-year-old, Ben Barnhard, were found in their home in Kensington, Maryland, an upper-middle class suburb of Washington, D.C. Jensvold, a Johns Hopkins-educated psychiatrist specializing in women’s health who worked at Kaiser Permanente, had left a note:

“School – can’t deal with school system,” the letter began, Jensvold’s sister, Susan Slaughter, told The Associated Press.

And later: “Debt is bleeding me. Strangled by debt.”

The story was carried by Forbes as Md. mom who killed son agonized over school costs.

A third story came out just over a week ago discusses the case of the death of Jawara Henry. The Wall Street Journal carried the story as Supervisor Is Charged in Death of Patient. The story opens with:

A supervisor at a state-run psychiatric center on Staten Island was charged Wednesday in the death last year of an autistic patient undergoing treatment at the facility, authorities said.

Erik Stanley, of Middletown, N.J., used excessive force when he subdued Jawara Henry on Dec. 4, 2010, at the South Beach Psychiatric Center, suffocating the patient with pressure on his neck and torso, Staten Island prosecutors said.

I find these stories obviously very troubling. I also find them very difficult to write about. How can we balance the need to discuss these stories and make it clear that these deaths were all needless, while keeping respect for those directly affected? A writer can try to inform. A writer can express personal outrage. A writer can also use other people’s tragedy for his/her own purposes. It is that third level that slows me down in responding to these stories.

What can I say? There is no reason for Katie McCarron, Margaret Jensvold, Ben Barnhard or Jawara Henry to be dead. There is no excuse, no rationale which explains these events. I wish their families well. I wish them peace. I hope for justice.

California suspends Mark Geier’s medical license

10 Aug

California is the fifth state to suspend the medical license of a Maryland physician who chemically castrates disabled children. Mark Geier, who operates ASD Centers, is still licensed in six other states: Hawaii, Florida, Missouri, New Jersey, Kentucky and Illinois.

The St. Louis Post-Dispatch reports that Illinois has scheduled a preliminary hearing on Geier’s license for Aug. 22. The story hints that the Missouri Healing Arts Board may be investigating Geier as well:

A doctor who is disciplined in another state is also subject to discipline in Missouri and Illinois. A spokesman for the Missouri healing arts board would not confirm an investigation of Geier, whose license is active.

Mark Geier and his son, David, reportedly received a standing ovation from anti-vaccine activists at May’s cult-like AutismOne conference. But few in the movement have publicly defended their actions.

Four other states have suspended or revoked Geier’s privileges since April 27, when his home state of Maryland took action against him. Washington followed on May 26, then Virginia on June 9. On June 29, Indiana issued an emergency 90-day suspension, citing the Maryland action.

The Association of Autism Diagnosis With Socioeconomic Status

4 Aug

The CDC’ autism prevalence estimates are probably the most quoted values. Not too long ago, the estimate was 1 in 166. Then 1 in 150. About a year ago, the estimate was revised to 1 in 100.

But, these numbers are estimates. And, more importantly, these estimates spam a wide range. Autism prevalence estimates vary by state and by ethnicity.

The state with the highest prevalence estimate is New Jersey. A team in New Jersey has analyzed the most recent data for the relationship on factors such as race/ethnicity and household income.

What did they find? Kids from high income families are twice as likely to get an autism designation as kids from less affluent areas.

The prevalence estimate in wealthy areas? 17 per 1000. Or 1 in 59.

Here is the abstract:

Background: In 2007 the Centers for Disease Control and Prevention (CDC) reported a higher prevalence of autism spectrum disorder (ASD) in New Jersey, one of the wealthiest states in the United States, than in other surveillance regions. Objective: To examine the association of socioeconomic status (SES) with ASD prevalence. Methods: Information on eight-year-olds with ASD from four counties was abstracted from school and medical records. US Census 2000 provided population and median household income data. Results: 586 children with ASD were identified: autism prevalence was 10.2/1000, higher in boys than girls (16 vs. 4/1000); higher in white and Asian non-Hispanics than in black non-Hispanics and Hispanics (12.5, 14.0, 9.0, and 8.5/1000, respectively); and higher (17.2/1000 (95% CI 14.0-21.1)) in tracts with median income >US$90,000 than in tracts with median income ?US$30,000 (7.1 (95% CI 5.7-8.9)). Number of professional evaluations was higher, and age at diagnosis younger, in higher income tracts (p < .001), but both measures spanned a wide overlapping range in all SES levels. In multivariable models race/ethnicity did not predict ASD, but the prevalence ratio was 2.2 (95% CI 1.5-3.1) when comparing highest with lowest income tracts. Conclusions: In the US state of New Jersey, ASD prevalence is higher in wealthier census tracts, perhaps due to differential access to pediatric and developmental services.

Listeners prefer the laughs of children with autism to those of typically developing children.

4 Aug

When you see a paper with a title like that, you have to read the abstract. OK, I have to. I didn’t expect this to be profound. It is interesting, though. Right up the the last ( and in my opinion unfortunate) sentence.

The purpose of this study was to investigate the impact of laugh sounds produced by 8- to 10-year-old children with and without autism on naïve listeners, and to evaluate if listeners could distinguish between the laughs of the two groups. Results showed that listeners rated the laughs of children with autism more positively than the laughs of typically developing children, and that they were slightly above chance levels at judging which group produced the laugh. A subset of participants who reported listening for “uncontrolled” or “longer” laughs were significantly better at discriminating between the laughs of the two groups. Our results suggest that the laughs of children with autism have the potential to promote the formation of relationships.

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