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Recent autism abstracts in Pubmed

Posted Dec 16 2010 2:35pm

Pubmed is an amazing resource. It is a Public Medical library of abstracts (and some articles) in the medical literature. I have a search set up so that I get emails with recent articles with the subject “autism”. I try to obtain some of the articles and discuss them here. This is not based on what I perceive to be the “best” or “most important” work, just what I want to explore. It has been difficult lately to go into depth in any articles and I find myself falling behind. For example, a couple of days ago the pubmed email had 29 abstracts in one day. Given that, here are a few recent abstracts that caught my eye:

Neonatally measured immunoglobulins and risk of autism.

Grether JK, Croen LA, Anderson MC, Nelson KB, Yolken RH.

California Department of Public Health, Richmond, California.
Abstract

Previous studies indicate that prenatal exposure to infections is a possible pathway through which autism spectrum disorders (ASD) could be initiated. We investigated whether immunoglobulin levels in archived specimens obtained from newborns subsequently diagnosed with ASD are different from levels in newborn specimens from controls. Children with ASD born in six California counties in 1994 were ascertained through records of the California Department of Developmental Services (DDS) and Kaiser Permanente; controls were randomly selected using birth certificates. Archived newborn blood specimens were obtained from the California Genetic Disease Screening Program (GDSP) for N = 213 cases and N = 265 controls and assayed to determine levels of total IgG, antigen-specific IgG to selected common pathogens, total IgM, total IgA, and C-reactive protein (CRP). We did not find measurable levels of total IgM or IgA in any neonate and measurable CRP was present in only a few. No antigen-specific IgG antibodies were elevated in cases compared to controls and total IgG levels were lower. In adjusted models, a 10-unit increase in total IgG yielded an OR = 0.72 (95% CI 0.56, 0.91); a significantly decreasing trend in risk of ASD was observed across increasing exposure quartiles of total IgG (P = 0.01). The finding of lower IgG in cases may indicate maternal immune dysfunction during gestation and/or impaired transplacental transfer of immunoglobulins. Further investigation of IgG levels in newborns and the mechanisms by which they might be associated with ASD are warranted.

This follows on some previous work on maternal antibodies and autism risk. In 2008, UC Davis published: Autism: maternally derived antibodies specific for fetal brain proteins and Johns Hopkins published: Antibodies against fetal brain in sera of mothers with autistic children . These studies looked at the blood sera from mothers of autistic children—sera taken long after the autistic child was born—and found that in some cases there were antibodies in the mothers’ sera against fetal brain proteins. The current study (Grether et al.) looked at blood spots of newborns—samples from the children rather than the mother. They did not find measurable levels of IgM or IgA in the infant’s blood spots. They also did not find c-reactive protein (a response to inflammation).

This study out of France looked at autistic children age 5 and again at age 8. They found that most children’s characteristics were stable, but some did show improvement (e.g. in speech level). What is interesting was the statement that the amount of intervention (hours) was not related to outcome.

Outcome of young children with autism: Does the amount of intervention influence developmental trajectories?

Darrou C, Pry R, Pernon E, Michelon C, Aussilloux C, Baghdadli A.

Montpellier I University, Montpellier III University, France.
Abstract

The study aims were to identify developmental trajectories of young children with autism and investigate their prognostic factors. The participants were 208 children, assessed first at the age of 5 years, followed longitudinally, and reassessed 3 years later. The children’s clinical characteristics and the interventions received were recorded. The results indicated two distinct outcome groups with more stability than change. When changes did occur, they pertained to symptom severity (which decreased) and speech level and adaptive behavior (which improved). A logistic regression analysis pointed out two main risk factors (symptom severity and speech level) and two main protection factors (communication skills and person-related cognition). Surprisingly, the amount of intervention (in terms of number of hours) was not related to outcome.

Given a recent discussion here on LeftBrainRightBrain on genetics, heritability, de-novo mutations and copy number variations (CNV’s), I found the following abstract interesting.

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Abstract

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P?=?0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs. © 2010 Wiley-Liss, Inc.

I am always very interested in efforts to identify autistic adults. In the following study, from the Netherlands, the ADOS is explored for reliability in an group of “high functioning” autism.

Diagnosing Autism Spectrum Disorders in Adults: the Use of Autism Diagnostic Observation Schedule (ADOS) Module 4.

Bastiaansen JA, Meffert H, Hein S, Huizinga P, Ketelaars C, Pijnenborg M, Bartels A, Minderaa R, Keysers C, de Bildt A.

Social Brain Lab, Department of Neuroscience, University Medical Center, Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands

Abstract

Autism Diagnostic Observation Schedule (ADOS) module 4 was investigated in an independent sample of high-functioning adult males with an autism spectrum disorder (ASD) compared to three specific diagnostic groups: schizophrenia, psychopathy, and typical development. ADOS module 4 proves to be a reliable instrument with good predictive value. It can adequately discriminate ASD from psychopathy and typical development, but is less specific with respect to schizophrenia due to behavioral overlap between autistic and negative symptoms. However, these groups differ on some core items and explorative analyses indicate that a revision of the algorithm in line with Gotham et al. (J Autism Dev Disord 37: 613-627, 2007) could be beneficial for discriminating ASD from schizophrenia.

Lastly, here is an article which I believe may have already been discussed online previously. From PLoS One (which means the article is available free) Which Neurodevelopmental Disorders Get Researched and Why? I don’t think it will come as a surprise to many readers of LeftBrainRightBrain that autism research has seen a particularly large rise in the past decade.

Aim

There are substantial differences in the amount of research concerned with different disorders. This paper considers why.

Methods

Bibliographic searches were conducted to identify publications (1985–2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived.

Results

The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe.

Interpretation

Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.

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  3. passionlessDrone:
    Hi Sullivan - I got that same 29 papers in one day blast this week. I'm thinking that their servers or batch processes just got hung up at one point so we really collected two or three days worth of papers at the same time. It's happened a couple times in the past few weeks. Other patterns are there, I only ever get like 2 of my alerts sending me notifications on Mondays for some reason; always the same two alerts. Weird. I'm waiting for a copy of the neonatal immunoglobulin paper to show up in my inbox; that one is particularly interesting to me. Nice mash up. - pD

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