1. Carter CJ. {{The barrier, airway particle clearance, placental and detoxification functions of autism susceptibility genes}}. {Neurochem Int};2016 (Jun 10)
Even taking problems of diagnosis into account, a five-fold increase in the incidence of autism in recent decades, in the absence of any known changes in the human gene pool suggests a strong environmental influence. Numerous pollutants have been implicated in epidemiological studies, including pesticides, heavy metals, industrial solvents, air pollutants, particulate matter, bisphenol A, phthalates and flame retardants. Many genes have been implicated in autism, some of which are directly related to detoxification processes. Many are also expressed prenatally in the frontal cortex when the effects of such toxins on neurodevelopment are most relevant. To gain access to the foetal brain, toxins must pass placental and blood/brain barriers and access to maternal or children’s blood necessitates passage across skin, airway and intestinal barriers. Literature survey of a subset of 206 genes, defined as prime autism susceptibility candidates from an Autworks/Genotator analysis, revealed that most could be related to barrier function at blood/brain, skin, intestinal, placental or other interfaces. These genes were highly enriched in proteome datasets from blood/brain and placental trophoblast barriers and many localised to skin, intestinal, lung, umbilical and placental compartments. Many were also components of the exosomal/transcytosis pathway that is involved in the transfer of compounds across cells themselves, rather than between them. Several are involved in the control of respiratory cilia that sweep mucus and noxious particles from the airways. A key role of autism susceptibility genes may thus relate to their ability to modulate the access of numerous toxins to children, and adults and, during gestation, to the developing foetal brain.
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2. Cui T, Wang PP, Liu S, Zhang X. {{P300 amplitude and latency in autism spectrum disorder: a meta-analysis}}. {Eur Child Adolesc Psychiatry};2016 (Jun 14)
Autism spectrum disorder (ASD) is an early onset neurodevelopmental disorder. Evidence suggests that ASD patients have abnormalities in information processing. Event-related potential (ERP) technique can directly record brain neural activity in real time. P300 is a positive ERP component which can measure the neuroelectrophysiological characteristics of human beings and has the potential to discover the pathological mechanism of ASD. However, P300 studies on ASD patients are incongruent and the disparities may be caused by several factors. By searching PubMed, Embase and Cochrane Library databases, a meta-analysis of P300 component difference between ASD group and typically developed (TD) control group was conducted. Results of amplitude and latency of P3b and P3a from included studies were synthesized. Random effect model was chosen and standardized mean difference (SMD) was calculated. Subgroup analysis was used to identify the source of heterogeneity and to test the effect of different experiment factors. A total of 407 ASD patients and 457 TD controls from 32 studies were included in this analysis. Reduced amplitude of P3b was found in ASD group (SMD = -0.505, 95 % CI -0.873, -0.138) compared with TD group, but no difference of P3b latency, P3a amplitude, or P3a latency was found between groups. Subgroup analysis showed that oddball paradigm elicited attenuated P3b amplitude in Pz electrode among ASD subjects. This meta-analysis suggests ASD patients have abnormalities in P300 component, which may represent for deficits in cognition, attention orientation and working memory processing, particularly in the decision-making processing condition.
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3. Dale RC. {{Autistic regression and central nervous system autoimmunity}}. {Dev Med Child Neurol};2016 (Jun 15)
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4. Kawanai T, Ago Y, Watanabe R, Inoue A, Taruta A, Onaka Y, Hasebe S, Hashimoto H, Matsuda T, Takuma K. {{Prenatal Exposure to Histone Deacetylase Inhibitors Affects Gene Expression of Autism-Related Molecules and Delays Neuronal Maturation}}. {Neurochem Res};2016 (Jun 14)
Valproic acid (VPA) is a multi-target drug and an inhibitor of histone deacetylase (HDAC). We have previously demonstrated that prenatal exposure to VPA at embryonic day 12.5 (E12.5), but not at E14.5, causes autism-like behavioral abnormalities in male mouse offspring. We have also found that prenatal VPA exposure causes transient histone hyperacetylation in the embryonic brain, followed by decreased neuronal cell numbers in the prefrontal and somatosensory cortices after birth. In the present study, we examined whether prenatal HDAC inhibition affects neuronal maturation in primary mouse cortical neurons. Pregnant mice were injected intraperitoneally with VPA (500 mg/kg) and the more selective HDAC inhibitor trichostatin A (TSA; 500 microg/kg) at E12.5 or E14.5, and primary neuronal cultures were prepared from the cerebral cortices of their embryos. Prenatal exposure to VPA at E12.5, but not at E14.5, decreased total number, total length, and complexity of neuronal dendrites at 14 days in vitro (DIV). The effects of VPA weakened at 21 DIV. Exposure to TSA at E12.5, but not at E14.5, also delayed maturation of cortical neurons. In addition, real-time quantitative PCR revealed that the prenatal exposure to TSA decreased neuroligin-1 (Nlgn1), Shank2, and Shank3 mRNA levels and increased contactin-associated protein-like 2 mRNA level. The delay in neuronal maturation was also observed in Nlgn1-knockdown cells, which were transfected with Nlgn1 siRNA. These findings suggest that prenatal HDAC inhibition causes changes in gene expression of autism-related molecules linked to a delay of neuronal maturation.
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5. Lopez-Cacho JM, Gallardo S, Posada M, Aguerri M, Calzada D, Mayayo T, Lahoz C, Cardaba B. {{Characterization of immune cell phenotypes in adults with autism spectrum disorders}}. {J Investig Med};2016 (Jun 13)
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in verbal and non-verbal communication, impaired social interactions and repetitive behaviors. There is evidence of a link between ASD symptoms and immune dysfunction, but few studies have been performed in adult patients to confirm this. In this work, we used flow cytometry to study immunological differences in peripheral blood mononuclear cells from 59 adult patients and 26 healthy control subjects to identify possible immune cell profiles related with this group of disorders. We analyzed six immune cell subpopulations (ie, B-cells, CD4+ and CD8+ T-cells, NK, NKT cells, and monocytes) and their corresponding stages of apoptosis and activation. The most noteworthy results showed that, compared to healthy controls, patients had increased percentages of CD8+ T-cells and B-cells, and a decrease in the percentage of NKT cells. Regarding CD25 expression, we found overall CD25+ overexpression, primarily in NK and NKT cells. Apoptosis percentage showed an increasing trend only in monocytes of patients. These data support a link between ASD and immune dysfunction, suggesting that specific cellular phenotypes and/or activation status of immune cells may be relevant in adult ASD.
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6. Lv Y, Liu C, Shi M, Cui L. {{Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report}}. {BMC Neurol};2016;16(1):91.
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn’t been recognized by clinical doctors at the early stage. So we need to find some special characters. CASE PRESENTATION: We reported a Chinese case of Rett syndrome, exhibiting continuous centrotemporal spikes in EEG with paroxysmal suppression by hand stereotypies (hand clapping). The child, female, 4 years old, presented with a significant regression in her spoken language skills, hand stereotypies (hand clapping and hand wringing), a wider based gait with difficulties in balance, repeated abnormal behaviors (bruxism and head banging). With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis. Her EEG showed slow acticity in background and revealed a specific feature that continuous centrotemporal spikes can be suppressed by the repeated hand clapping. And when the hand stopped, the spikes reoccured again. CONCLUSIONS: This unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome.
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7. Marko D, Boege F. {{A possible link between nutritional uptake of ubiquitous topoisomerase inhibitors and autism?}}. {Int J Dev Neurosci};2016 (Jun 10)
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8. Miller A, Shen J, Masse LC. {{Child functional characteristics explain child and family outcomes better than diagnosis: Population-based study of children with autism or other neurodevelopmental disorders/disabilities}}. {Health Rep};2016 (Jun 15);27(6):9-18.
BACKGROUND: Allocation of resources for services and supports for children with neurodevelopmental disorders/disabilities (NDD/D) is often based on the presence of specific health conditions. This study investigated the relative roles of a child’s diagnosed health condition and neurodevelopmental and related functional characteristics in explaining child and family health and well-being. DATA AND METHODS: The data on children with NDD/D (ages 5 to 14; weighted n = 120,700) are from the 2006 Participation and Activity Limitation Survey (PALS), a population-based Canadian survey of parents of children with functional limitations/disabilities. Direct and indirect effects of child diagnosis status-autism spectrum disorder (ASD)/not ASD-and functional characteristics (particularly, ASD-related impairments in speech, cognition, and emotion and behaviour) on child participation and family health and well-being were investigated in a series of structural equation models, while controlling for covariates. RESULTS: All models adequately fitted the data. Child ASD diagnosis was significantly associated with child participation and family health and well-being. When ASD-related child functional characteristics were added to the model, all direct effects from child diagnosis on child and family outcomes disappeared; the effect of child diagnosis on child and family outcomes was fully mediated via ASD-related child functional characteristics. INTERPRETATION: Children’s neurodevelopmental functional characteristics are integral to understanding the child and family health-related impact of neurodevelopmental disorders such as ASD. These findings have implications for the relative weighting given to functional versus diagnosis-specific factors in considering needs for services and supports.
9. Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P. {{Comparing Efficacy and Side Effects of Memantine vs. Risperidone in the Treatment of Autistic Disorder}}. {Pharmacopsychiatry};2016 (Jun 14)
Introduction: This study was aimed to compare the efficacy and side effects of memantine, an antagonist of the NMDA receptor of glutamate, with risperidone given the fact that glutamate has been noted for its possible effects in the pathogenesis of autism. Risperidone, an atypical antipsychotic, has been approved by FDA for the management of irritability associated with autism. Methods: 30 children, aged 4-17 years, entered an 8-week, randomized trial. Patients were randomly assigned to receive either risperidone or memantine. Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Clinical Global Impressions – Improvement (CGI-I) and Clinical Global Impression-Severity (CGI-S) scales were used to assess behavioral symptoms of the patients. Results: Both risperidone and memantine reduced the scores of 4 subscales of ABC as well as the 10-item and the total score of CARS significantly. However, differences between the 2 drugs in the scores of each evaluating scale were not found to be significant. Relatively, larger number of patients on risperidone showed « very much improvement » when assessed by CGI-I scale when compared with those on memantine. Discussion and conclusion: The present study suggests that memantine may have beneficial effects in the treatment of many core symptoms of autism. Therefore, memantine may be considered as a potential medication in the treatment of those autistic children who do not respond or cannot tolerate side effects of risperidone.
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10. Philpott-Robinson K, Lane AE, Harpster K. {{Sensory Features of Toddlers at Risk for Autism Spectrum Disorder}}. {Am J Occup Ther};2016 (Jul-Aug);70(4):7004220010p7004220011-7004220018.
OBJECTIVE: We observed sensory features in toddlers ages 12-24 mo with risk factors for autism spectrum disorder (ASD) and explored their relationship to general development and early signs of ASD. METHOD: Participants (N = 46) included toddlers with higher risk for ASD. All participants were administered standardized assessments of sensory features, early signs of ASD, and general development at a single study visit. RESULTS: Sensory features in toddlers were characterized as either adaptive or reactive. Toddlers with more difficulties in oral sensory processing displayed more early signs of ASD. Typical oral and auditory processing were associated with higher cognitive function, and toddlers with fewer sensory features overall had more mature language skills. CONCLUSION: Specific sensory features were associated with both early signs of ASD and less mature general development. Replication of this preliminary study is required.
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11. Ryan C, Furley P, Mulhall K. {{Judgments of Nonverbal Behaviour by Children with High-Functioning Autism Spectrum Disorder: Can they Detect Signs of Winning and Losing from Brief Video Clips?}}. {J Autism Dev Disord};2016 (Jun 15)
Typically developing children are able to judge who is winning or losing from very short clips of video footage of behaviour between active match play across a number of sports. Inferences from « thin slices » (short video clips) allow participants to make complex judgments about the meaning of posture, gesture and body language. This study extends the use of the thin slice research paradigm to children with high-functioning autism spectrum disorder (ASD). We tested 38 children with ASD, in two age groups: 15 participants aged 5-8 years and 23 participants aged 9-13 years. We found that the children with ASD had a rate of accuracy similar to that of typically developing peers tested in a previous study.
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12. Scott RC, Tuchman R. {{Epilepsy and autism spectrum disorders: Relatively related}}. {Neurology};2016 (Jun 15)
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13. Sundelin HE, Larsson H, Lichtenstein P, Almqvist C, Hultman CM, Tomson T, Ludvigsson JF. {{Autism and epilepsy: A population-based nationwide cohort study}}. {Neurology};2016 (Jun 15)
OBJECTIVE: To investigate the risk of autism spectrum disorder (ASD) in individuals with epilepsy and in their first-degree relatives to determine shared etiology. METHODS: Through the Swedish Patient Register, we identified 85,201 individuals with epilepsy, as well as all their siblings (n = 80,511) and offspring (n = 98,534). Each individual with epilepsy was compared with 5 controls, matched for age, sex, calendar period, and county, while siblings and offspring were compared with siblings and offspring of controls. We excluded siblings and offspring with epilepsy. Using Cox regression, we calculated hazard ratios (HRs) for future diagnosis of ASD. Logistic regression was applied to calculate odds ratios (ORs) for prior diagnosis of ASD. RESULTS: During follow-up, 1,381 (1.6%) individuals with epilepsy and 700 (0.2%) controls were diagnosed with ASD. Individuals with epilepsy were therefore at increased risk of future ASD (HR 10.49, 95% confidence interval [CI] 9.55-11.53), with the highest risk seen in individuals diagnosed with epilepsy in childhood. Both siblings (HR 1.62, 95% CI 1.43-1.83) and offspring (HR 1.64, 95% CI 1.46-1.84) of epilepsy patients were at increased risk of ASD. The risk in the offspring was particularly high in mothers with epilepsy (HR 1.91; 95% CI 1.63-2.23). Epilepsy was also associated with a prior diagnosis of ASD (OR 4.56, 95% CI 4.02-5.18). CONCLUSIONS: Individuals with epilepsy are at increased risk of ASD, especially if epilepsy appears in childhood. Further, ASD is more common in the siblings and offspring of individuals with epilepsy, suggesting shared etiology.
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14. van Amen-Hellebrekers CJ, Jansen S, Pfundt R, Schuurs-Hoeijmakers JH, Koolen DA, Marcelis CL, de Leeuw N, de Vries BB. {{Duplications of SLC1A3: Associated with ADHD and autism}}. {Eur J Med Genet};2016 (Jun 10)
We report four patients with a similar gain in 5p13.2 encompassing a single gene: SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3. We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.
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15. Welch CD, Polatajko HJ. {{Applied Behavior Analysis, Autism, and Occupational Therapy: A Search for Understanding}}. {Am J Occup Ther};2016 (Jul-Aug);70(4):7004360020p7004360021-7004360025.
Occupational therapists strive to be mindful, competent practitioners and continuously look for ways to improve practice. Applied behavior analysis (ABA) has strong evidence of effectiveness in helping people with autism achieve goals, yet it does not seem to be implemented in occupational therapy practice. To better understand whether ABA could be an evidence-based option to expand occupational therapy practice, the authors conducted an iterative, multiphase investigation of relevant literature. Findings suggest that occupational therapists apply developmental and sensory approaches to autism treatment. The occupational therapy literature does not reflect any use of ABA despite its strong evidence base. Occupational therapists may currently avoid using ABA principles because of a perception that ABA is not client centered. ABA principles and occupational therapy are compatible, and the two could work synergistically.
