1. Albein-Urios N, Youssef GJ, Kirkovski M, Enticott PG. {{Autism Spectrum Traits Linked with Reduced Performance on Self-Report Behavioural Measures of Cognitive Flexibility}}. {J Autism Dev Disord}. 2018.
Deficits in cognitive flexibility are thought to underpin the core symptom of repetitive and restricted patterns of behaviour in autism spectrum disorder (ASD). Studies investigating this relationship, however, report inconsistent results. This is partly due to the variable nature of measures used to assess the construct of flexibility. The main purpose of this study was to investigate whether ASD traits differentially predict cognitive flexibility performance on lab-based neurocognitive measures relative to behavioural self-reports in a non-clinical sample of young adults. Our results indicate that ASD traits exclusively predict performance on behavioural self-reports of cognitive flexibility. These findings highlight the possibility that behavioural self-reports are a better index than lab-based neurocognitive measures to capture cognitive flexibility impairments in individuals with ASD.
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2. Azer SA, Bokhari RA, AlSaleh GS, Alabdulaaly MM, Ateeq KI, Guerrero APS, Azer S. {{Experience of parents of children with autism on YouTube: are there educationally useful videos?}}. {Informatics for health & social care}. 2018: 1-15.
The aims of this study were to determine the following: first, are there educationally useful videos of parents of children with autism sharing their experiences? Second, do any of the data related to videos help in identifying useful videos? And third, what do posted comments tell us? YouTube was searched for videos of parents sharing their experiences. The following parameters were collected: title, creator, URL, duration, number of viewers, likes, dislikes, comments, days on YouTube, and country. Based on agreed-upon criteria, videos were divided independently into educationally useful and non-useful categories. A critical thematic analysis of comments was conducted. A total of 180 videos were finally identified, of which 106 (59%) provided useful information, scoring 15.3 +/- 0.7 (mean +/- SD); 74 (41%) were determined to be not educationally useful, scoring 8.6 +/- 2.1. The differences in scores were significant (p < 0.001), but there were no significant differences between the useful and non-useful groups in terms of video parameters. No correlation was found between scores and any of the videos' parameters. In conclusion, there are videos that can be used as educational resources. The videos' parameters did not differentiate between useful and non useful. Useful videos were mostly created by professional societies and by parents. The study reflects the emerging role of YouTube in sharing experiences. Lien vers le texte intégral (Open Access ou abonnement)
3. Burns CO, Matson JL. {{An investigation of the association between seizures, autism symptomology, and developmental functioning in young children}}. {Dev Neurorehabil}. 2018; 21(3): 188-96.
OBJECTIVE: The aim of the present study was to explore whether a history of seizures was associated with autism symptom severity and developmental functioning in young children. METHODS: Autism symptom severity and developmental functioning were compared between children with and without a history or seizures who either had atypical development or met criteria for autism spectrum disorder (ASD) based on review of records by a licensed clinical psychologist. RESULTS: Parents of children who met criteria for ASD reported lower levels of autism symptomology when the child had a history of seizures, while the opposite trend was found for children with atypical development. Participants without ASD or seizures had greater developmental functioning than the other groups. CONCLUSION: The present study emphasizes the need for early identification and diagnosis of both ASD and seizure disorders, as timely intervention for these two conditions may be related to improved outcomes for young children.
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4. Cartocci V, Catallo M, Tempestilli M, Segatto M, Pfrieger FW, Bronzuoli MR, Scuderi C, Servadio M, Trezza V, Pallottini V. {{Altered Brain Cholesterol/Isoprenoid Metabolism in a Rat Model of Autism Spectrum Disorders}}. {Neuroscience}. 2018; 372: 27-37.
Autism spectrum disorders (ASDs) present a wide range of symptoms characterized by altered sociability, compromised communication and stereotypic/repetitive behaviors. These symptoms are caused by developmental changes, but the mechanisms remain largely unknown. Some lines of evidence suggest an impairment of the cholesterol/isoprenoid metabolism in the brain as a possible cause, but systematic analyses in rodent models of ASDs are lacking. Prenatal exposure to the antiepileptic drug valproate (VPA) is a risk factor for ASDs in humans and generates a well-established model for the disease in rodents. Here, we studied cholesterol/isoprenoid metabolism in different brain areas of infant, adolescent and adult rats prenatally exposed to VPA. VPA-treated rats present autistic-like symptoms, they show changes in cholesterol/isoprenoid homeostasis in some brain areas, a decreased number of oligodendrocytes and impaired myelination in the hippocampus. Together, our data suggest a relation between brain cholesterol/isoprenoid homeostasis and ASDs.
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5. Daniels J, Haber N, Voss C, Schwartz J, Tamura S, Fazel A, Kline A, Washington P, Phillips J, Winograd T, Feinstein C, Wall DP. {{Feasibility Testing of a Wearable Behavioral Aid for Social Learning in Children with Autism}}. {Applied clinical informatics}. 2018; 9(1): 129-40.
BACKGROUND: Recent advances in computer vision and wearable technology have created an opportunity to introduce mobile therapy systems for autism spectrum disorders (ASD) that can respond to the increasing demand for therapeutic interventions; however, feasibility questions must be answered first. OBJECTIVE: We studied the feasibility of a prototype therapeutic tool for children with ASD using Google Glass, examining whether children with ASD would wear such a device, if providing the emotion classification will improve emotion recognition, and how emotion recognition differs between ASD participants and neurotypical controls (NC). METHODS: We ran a controlled laboratory experiment with 43 children: 23 with ASD and 20 NC. Children identified static facial images on a computer screen with one of 7 emotions in 3 successive batches: the first with no information about emotion provided to the child, the second with the correct classification from the Glass labeling the emotion, and the third again without emotion information. We then trained a logistic regression classifier on the emotion confusion matrices generated by the two information-free batches to predict ASD versus NC. RESULTS: All 43 children were comfortable wearing the Glass. ASD and NC participants who completed the computer task with Glass providing audible emotion labeling (n = 33) showed increased accuracies in emotion labeling, and the logistic regression classifier achieved an accuracy of 72.7%. Further analysis suggests that the ability to recognize surprise, fear, and neutrality may distinguish ASD cases from NC. CONCLUSION: This feasibility study supports the utility of a wearable device for social affective learning in ASD children and demonstrates subtle differences in how ASD and NC children perform on an emotion recognition task.
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6. Gold WA, Krishnarajy R, Ellaway C, Christodoulou J. {{Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities}}. {ACS chemical neuroscience}. 2018; 9(2): 167-76.
Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females resulting in severe cognitive and physical disabilities. Despite the commendable collective efforts of the research community to better understand the genetics and underlying biology of RTT, there is still no cure. However, in the past 50 years, since the first report of RTT, steady progress has been made in the accumulation of clinical and molecular information resulting in the identification of a number of genes associated with RTT and associated phenotypes, improved diagnostic criteria, natural history studies, curation of a number of databases capturing genotypic and phenotypic data, a number of promising clinical trials and exciting novel therapeutic options which are currently being tested in laboratory and clinical settings. This Review focuses on the current knowledge of the clinical aspects of RTT, with particular attention being paid to clinical trials and the comorbidities of the disorder as well as the genetic etiology and the recognition of new diseases genes.
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7. Good P. {{Evidence the U.S. autism epidemic initiated by acetaminophen (Tylenol) is aggravated by oral antibiotic amoxicillin/clavulanate (Augmentin) and now exponentially by herbicide glyphosate (Roundup)}}. {Clinical nutrition ESPEN}. 2018; 23: 171-83.
Because certain hereditary diseases show autistic behavior, and autism often runs in families, researchers seek genes underlying the pathophysiology of autism, thus core behaviors. Other researchers argue environmental factors are decisive, citing compelling evidence of an autism epidemic in the United States beginning about 1980. Recognition that environmental factors influence gene expression led to synthesis of these views – an ‘epigenetic epidemic’ provoked by pervasive environmental agents altering expression of vulnerable genes, inducing characteristic autistic biochemistries in many mothers and infants. Two toxins most implicated in the U.S. autism epidemic are analgesic/antipyretic acetaminophen (Tylenol) and oral antibiotic amoxicillin/clavulanate (Augmentin). Recently herbicide glyphosate (Roundup) was exponentially implicated. What do these toxins have in common? Acetaminophen depletes sulfate and glutathione required to detoxify it. Oral antibiotics kill and glyphosate inhibits intestinal bacteria that synthesize methionine (precursor of sulfate and glutathione, and required to methylate DNA), bacteria that synthesize tryptophan (sole precursor of neuroinhibitor serotonin), and bacteria that restrain ammonia-generating anaerobes. Sulfate plus glutathione normally sulfate fetal adrenal androgen dehydroepiandrosterone to DHEAS – major precursor of placental/postnatal estrogens. Glyphosate (and heavy metals) also inhibit aromatase that turns androgens to estrogens. Placental/postnatal estrogens dehydrate/mature brain myelin sheaths, mature corpus callosum and left hemisphere preferentially, dilate brain blood vessels, and elevate brain serotonin and oxytocin. Stress-induced weak androgens and estrogen depletion coherently explain white matter asymmetry and dysconnection in autism, extreme male brain, low brain blood flow, hyperexcitability, social anxiety, and insufficient maternal oxytocin at birth to limit fetal brain chloride/water and mature GABA.
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8. Joseph B, Muralidhar D. {{The scope of parental awareness and mediated training of their children with Autism Spectrum Disorders in India}}. {Asian J Psychiatr}. 2018; 31: 107-8.
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9. Karaminis T, Neil L, Manning C, Turi M, Fiorentini C, Burr D, Pellicano E. {{Reprint of « Investigating ensemble perception of emotions in autistic and typical children and adolescents »}}. {Developmental cognitive neuroscience}. 2018.
Ensemble perception, the ability to assess automatically the summary of large amounts of information presented in visual scenes, is available early in typical development. This ability might be compromised in autistic children, who are thought to present limitations in maintaining summary statistics representations for the recent history of sensory input. Here we examined ensemble perception of facial emotional expressions in 35 autistic children, 30 age- and ability-matched typical children and 25 typical adults. Participants received three tasks: a) an ‘ensemble’ emotion discrimination task; b) a baseline (single-face) emotion discrimination task; and c) a facial expression identification task. Children performed worse than adults on all three tasks. Unexpectedly, autistic and typical children were, on average, indistinguishable in their precision and accuracy on all three tasks. Computational modelling suggested that, on average, autistic and typical children used ensemble-encoding strategies to a similar extent; but ensemble perception was related to non-verbal reasoning abilities in autistic but not in typical children. Eye-movement data also showed no group differences in the way children attended to the stimuli. Our combined findings suggest that the abilities of autistic and typical children for ensemble perception of emotions are comparable on average.
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10. Kirkovski M, Suo C, Enticott PG, Yucel M, Fitzgerald PB. {{Short communication: Sex-linked differences in gamma-aminobutyric acid (GABA) are related to social functioning in autism spectrum disorder}}. {Psychiatry Res}. 2018.
Magnetic resonance spectroscopy (MRS) was utilized to investigate sex differences in gamma-aminobutyric acid (GABA) between adults with autism spectrum disorder (ASD) and neurotypical (NT) controls. GABA at the right superior temporal sulcus (STS) is reported for 12 ASD and 14 NT participants. The results show no group differences in GABA. There was, however, a significant positive association between GABA at the STS and autism-related social impairments in females with ASD. These findings provide preliminary support for sex differences in GABAergic distribution and processes that contribute to social functioning in ASD.
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11. Kumazaki H, Kikuchi M, Yoshimura Y, Miyao M, Okada KI, Mimura M, Minabe Y. {{Relationship Between Odor Identification and Visual Distractors in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
Understanding the nature of olfactory abnormalities is crucial for optimal interventions in children with autism spectrum disorders (ASD). However, previous studies that have investigated odor identification in children with ASD have produced inconsistent results. The ability to correctly identify an odor relies heavily on visual inputs in the general population. We tested odor identification in eight children with ASD and eight age-matched children with typical development (TD). After confirming that all children were able to identify each odor without visual input, we measured odor identification under the visual-distractor condition. Odor identification was hindered by visual distractors for all children with ASD but was not affected in all children with TD. Our results improve understanding of odor identification in ASD.
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12. Li Y, Yu D. {{Variations of the Functional Brain Network Efficiency in a Young Clinical Sample within the Autism Spectrum: A fNIRS Investigation}}. {Frontiers in physiology}. 2018; 9: 67.
Autism is a neurodevelopmental disorder with dimensional behavioral symptoms and various damages in the structural and functional brain. Previous neuroimaging studies focused on exploring the differences of brain development between individuals with and without autism spectrum disorders (ASD). However, few of them have attempted to investigate the individual differences of the brain features among subjects within the Autism spectrum. Our main goal was to explore the individual differences of neurodevelopment in young children with Autism by testing for the association between the functional network efficiency and levels of autistic behaviors, as well as the association between the functional network efficiency and age. Forty-six children with Autism (ages 2.0-8.9 years old) participated in the current study, with levels of autistic behaviors evaluated by their parents. The network efficiency (global and local network efficiency) were obtained from the functional networks based on the oxy-, deoxy-, and total-Hemoglobin series, respectively. Results indicated that the network efficiency decreased with age in young children with Autism in the deoxy- and total-Hemoglobin-based-networks, and children with a relatively higher level of autistic behaviors showed decreased network efficiency in the oxy-hemoglobin-based network. Results suggest individual differences of brain development in young children within the Autism spectrum, providing new insights into the psychopathology of ASD.
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13. Nuske HJ, McGhee Hassrick E, Bronstein B, Hauptman L, Aponte C, Levato L, Stahmer A, Mandell DS, Mundy P, Kasari C, Smith T. {{Broken bridges-new school transitions for students with autism spectrum disorder: A systematic review on difficulties and strategies for success}}. {Autism}. 2018: 1362361318754529.
Transitioning to a new school is often challenging for students with autism spectrum disorder. Few studies have examined the transition needs of students with autism spectrum disorder or the benefits of specific supports. This review synthesizes research findings on the difficulties that school transitions pose for students with autism spectrum disorder and their parents and teachers, and the strategies used to support students and parents during school transition. The review included 27 studies (10 examining the transition to primary school, 17 the transition to secondary school), with data from 443 students with autism spectrum disorder, 453 parents, and 546 teachers, across four continents (North America, Europe, Africa, and Australia). Studies reported that children with autism spectrum disorder struggled with anxiety and increased social pressure, their parents felt overwhelmed with complex placement decisions and worried about the well-being of their children, and teachers strove to provide appropriate supports to their students with autism spectrum disorder, often with inadequate resources. Findings indicated that the most useful strategies involved helping the student adjust to the new school setting, individualizing transition supports, clarifying the transition process for parents, and fostering communication both between the sending and receiving schools, and school and home.
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14. Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedurftig B, Henis M, Scharf S, Kraus V, Dork R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, Calderon de Anda F. {{Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling}}. {Mol Psychiatry}. 2018.
Atypical brain connectivity is a major contributor to the pathophysiology of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASDs). TAOK2 is one of several genes in the 16p11.2 microdeletion region, but whether it contributes to NDDs is unknown. We performed behavioral analysis on Taok2 heterozygous (Het) and knockout (KO) mice and found gene dosage-dependent impairments in cognition, anxiety, and social interaction. Taok2 Het and KO mice also have dosage-dependent abnormalities in brain size and neural connectivity in multiple regions, deficits in cortical layering, dendrite and synapse formation, and reduced excitatory neurotransmission. Whole-genome and -exome sequencing of ASD families identified three de novo mutations in TAOK2 and functional analysis in mice and human cells revealed that all the mutations impair protein stability, but they differentially impact kinase activity, dendrite growth, and spine/synapse development. Mechanistically, loss of Taok2 activity causes a reduction in RhoA activation, and pharmacological enhancement of RhoA activity rescues synaptic phenotypes. Together, these data provide evidence that TAOK2 is a neurodevelopmental disorder risk gene and identify RhoA signaling as a mediator of TAOK2-dependent synaptic development.
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15. Tillmann J, Ashwood K, Absoud M, Bolte S, Bonnet-Brilhault F, Buitelaar JK, Calderoni S, Calvo R, Canal-Bedia R, Canitano R, De Bildt A, Gomot M, Hoekstra PJ, Kaale A, McConachie H, Murphy DG, Narzisi A, Oosterling I, Pejovic-Milovancevic M, Persico AM, Puig O, Roeyers H, Rommelse N, Sacco R, Scandurra V, Stanfield AC, Zander E, Charman T. {{Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology.
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16. Van der Hallen R, Chamberlain R, de-Wit L, Wagemans J. {{Superior Disembedding in Children with ASD: New Tests Using Abstract, Meaningful, and 3D Contexts}}. {J Autism Dev Disord}. 2018.
Since its initial development, the embedded figures test (EFT) has been used extensively to measure local-global perceptual style. However, little is known about the perceptual factors that influence target detection. The current study aimed to investigate disembedding in children with and without ASD, aged 8-15 years, using the newly developed, stimulus-controlled L-EFT, M-EFT and D-EFT. Firstly, results revealed superior disembedding for children with ASD, irrespective of the type of target or embedding context, although the ASD group took more time in both the M-EFT and D-EFT. Secondly, the number of target lines continuing into the context proved more of a hindrance for the controls. Taken together, these findings provide strong evidence to support the notion of superior disembedding in ASD.
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17. Varga NA, Pentelenyi K, Balicza P, Gezsi A, Remenyi V, Harsfalvi V, Bencsik R, Illes A, Prekop C, Molnar MJ. {{Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion}}. {Behavioral and brain functions : BBF}. 2018; 14(1): 4.
BACKGROUND: The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients. The main goal of the present study was to investigate correlations between mitochondrial DNA (mtDNA) changes and alterations of genes associated with mtDNA maintenance or ASD. METHODS: Sixty patients with ASD and sixty healthy individuals were screened for common mtDNA mutations. Next generation sequencing was performed on patients with major mtDNA deletions (mtdel-ASD) using two gene panels to investigate nuclear genes that are associated with ASD or are responsible for mtDNA maintenance. Cohorts of healthy controls, ASD patients without mtDNA alterations, and patients with mitochondrial disorders (non-ASD) harbouring mtDNA deletions served as comparison groups. RESULTS: MtDNA deletions were confirmed in 16.6% (10/60) of patients with ASD (mtdel-ASD). In 90% of this mtdel-ASD children we found rare SNVs in ASD-associated genes (one of those was pathogenic). In the intergenomic panel of this cohort one likely pathogenic variant was present. In patients with mitochondrial disease in genes responsible for mtDNA maintenance pathogenic mutations and variants of uncertain significance (VUS) were detected more frequently than those found in patients from the mtdel-ASD or other comparison groups. In healthy controls and in patients without a mtDNA deletion, only VUS were detected in both panel. CONCLUSIONS: MtDNA alterations are more common in patients with ASD than in control individuals. MtDNA deletions are not isolated genetic alterations found in ASD; they coexist either with other ASD-associated genetic risk factors or with alterations in genes responsible for intergenomic communication. These findings indicate that mitochondrial dysfunction is not rare in ASD. The occurring mtDNA deletions in ASD may be mostly a consequence of the alterations of the causative culprit genes for autism or genes responsible for mtDNA maintenance, or because of the harmful effect of environmental factors.
