1. Allen ML, Hartley C, Cain K. {{Do iPads promote symbolic understanding and word learning in children with autism?}}. {Front Psychol};2015;6:138.
The use of the Apple iPad has skyrocketed in educational settings, along with largely unsubstantiated claims of its efficacy for learning and communication in children with autism spectrum disorder (ASD). Here, we examine whether children with ASD are better able to learn new word-referent relations using an iPad or a traditional picture book. We also examine the hypothesis that presenting multiple, differently colored, exemplars of a target referent will promote adaptive label generalization compared to the use of a single exemplar. Sixteen minimally verbal children with ASD were taught a new word in four within-subjects conditions, which varied by media (iPad vs. book) and content (single vs. multiple exemplar presentation). Children were then tested on the ability to symbolically relate the word to a 3-D referent (real-life depicted object) and generalize it to a differently colored category member (another similarly shaped object). The extent of symbolic understanding did not differ between the two media, and levels of generalization did not differ across conditions. However, presentation of multiple exemplars increased the rate that children with ASD extended labels from pictures to depicted objects. Our findings are discussed in terms of the importance of content to picture-based learning and the potential benefits and challenges of using the Apple iPad as an educational resource for children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Arnold C. {{Air Pollution and ASDs: Homing In on an Environmental Risk Factor}}. {Environ Health Perspect};2015 (Mar 1);123(3):A68.
Lien vers le texte intégral (Open Access ou abonnement)
3. Balardin JB, Sato JR, Vieira G, Feng Y, Daly E, Murphy C, Murphy D, Ecker C. {{Relationship Between Surface-Based Brain Morphometric Measures and Intelligence in Autism Spectrum Disorders: Influence of History of Language Delay}}. {Autism Res};2015 (Mar 3)
Autism spectrum disorders (ASD) are a group of conditions that show abnormalities in the neuroanatomy of multiple brain regions. The variability in the development of intelligence and language among individuals on the autism spectrum has long been acknowledged, but it remains unknown whether these differences impact on the neuropathology of ASD. In this study, we aimed to compare associations between surface-based regional brain measures and general intelligence (IQ) scores in ASD individuals with and without a history of language delay. We included 64 ASD adults of normal intelligence (37 without a history of language delay and 27 with a history of language delay and 80 neurotypicals). Regions with a significant association between verbal and nonverbal IQ and measures of cortical thickness (CT), surface area, and cortical volume were first identified in the combined sample of individuals with ASD and controls. Thicker dorsal frontal and temporal cortices, and thinner lateral orbital frontal and parieto-occipital cortices were associated with greater and lower verbal IQ scores, respectively. Correlations between cortical volume and verbal IQ were observed in similar regions as revealed by the CT analysis. A significant difference between ASD individuals with and without a history of language delay in the association between CT and verbal IQ was evident in the parieto-occipital region. These results indicate that ASD subgroups defined on the basis of differential language trajectories in childhood can have different associations between verbal IQ and brain measures in adulthood despite achieving similar levels of cognitive performance. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
4. Berenguer-Forner C, Miranda-Casas A, Pastor-Cerezuela G, Rosello-Miranda R. {{[Comorbidity of autism spectrum disorder and attention deficit with hyperactivity. A review study]}}. {Rev Neurol};2015 (Feb 25);60 Suppl 1:S37-43.
INTRODUCTION. The high presence of attention deficit hyperactivity disorder (ADHD) in autism spectrum disorder (ASD) has been acknowledged in the Diagnostic and statistical manual of mental disorders, fifth edition, thus allowing the diagnosis of both disorders. AIMS. The purpose of this study is to review the research published between 2010 and 2014 on the cognitive and social characteristics of the concurrence of ASD and ADHD. DEVELOPMENT. A review of the 33 studies that were identified showed evidence that the prevalence of symptoms of ADHD in children with ASD was 33-37%. The comorbid condition presents a greater deficit in inhibitory control, attention and working memory. Likewise, in social cognition, the clinical features of ADHD increase the difficulties in cases of ASD. Moreover, the clinical profile of ASD + ADHD is seen to be more severe than that of pure ADHD or ASD, and delayed language development and the intensity/frequency of tantrums are symptoms that are a valuable aid in identification at early ages. CONCLUSIONS. Findings suggest an ‘additive’ overlapping and ASD + ADHD shares some of the deficits from both disorders, which has implications for the evaluation and design of effective treatments.
5. Brown AS, Surcel HM, Hinkka-Yli-Salomaki S, Cheslack-Postava K, Bao Y, Sourander A. {{Maternal thyroid autoantibody and elevated risk of autism in a national birth cohort}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Mar 3);57:86-92.
OBJECTIVE: Autoimmune disruption may contribute to risk for autism; however, since previous studies relied upon clinical diagnoses, exposure misclassification and recall bias are limitations. Thyroid peroxidase antibody (TPO-Ab) is an autoantibody involved in autoimmune thyroiditis. We aimed to test the a priori hypothesis that positivity to maternal serum TPO-Ab (TPO-Ab+) (defined as >156 IU/ml) during pregnancy is related to childhood autism. METHOD: The study was based on a nested case-control design of the Finnish Prenatal Study of Autism (FiPS-A), a national birth cohort that includes prospectively drawn archived maternal serum specimens from virtually the entire pregnant population of Finland beginning in 1983. Cases of childhood autism (ICD-10F84.0) born from 1987 to 2005 were ascertained by performing linkages between national birth and inpatient/outpatient registries. All diagnosed cases in Finland over the birth years, and comparison subjects without ASD or severe/profound intellectual disability were matched 1:1 on date of birth, sex, birthplace, and residence in Finland. Maternal serum specimens were assayed in 967 matched case-control pairs for TPO-Ab by a chemiluminescent microparticle immunoassay blind to case/control status. Data were analyzed by conditional logistic regression for matched sets. RESULTS: The prevalence of maternal TPO-Ab+ was significantly increased in pregnancies giving rise to autism cases (6.15%) compared to controls (3.54%). The odds of autism were increased by nearly 80% among offspring of mothers who were TPO-Ab+ during pregnancy (OR=1.78, 95% CI=1.16-2.75, p=0.009), compared to mothers negative for this autoantibody. There was also a significant relationship between maternal TPO-Ab defined as a continuous variable and odds of autism (OR=1.09, 95% CI=1.01, 1.17, p=0.02). Measures of maternal thyroid hormones did not differ between groups. CONCLUSIONS: These findings provide the first biomarker-based evidence that a class of known maternal autoimmune disorders is related to autism in offspring.
Lien vers le texte intégral (Open Access ou abonnement)
6. Campbell DB. {{Genetic investigation of autism-related social communication deficits}}. {Am J Psychiatry};2015 (Mar 1);172(3):212-213.
Lien vers le texte intégral (Open Access ou abonnement)
7. Cassidy S, Mitchell P, Chapman P, Ropar D. {{Processing of Spontaneous Emotional Responses in Adolescents and Adults with Autism Spectrum Disorders: Effect of Stimulus Type}}. {Autism Res};2015 (Mar 3)
Recent research has shown that adults with autism spectrum disorders (ASD) have difficulty interpreting others’ emotional responses, in order to work out what actually happened to them. It is unclear what underlies this difficulty; important cues may be missed from fast paced dynamic stimuli, or spontaneous emotional responses may be too complex for those with ASD to successfully recognise. To explore these possibilities, 17 adolescents and adults with ASD and 17 neurotypical controls viewed 21 videos and pictures of peoples’ emotional responses to gifts (chocolate, a handmade novelty or Monopoly money), then inferred what gift the person received and the emotion expressed by the person while eye movements were measured. Participants with ASD were significantly more accurate at distinguishing who received a chocolate or homemade gift from static (compared to dynamic) stimuli, but significantly less accurate when inferring who received Monopoly money from static (compared to dynamic) stimuli. Both groups made similar emotion attributions to each gift in both conditions (positive for chocolate, feigned positive for homemade and confused for Monopoly money). Participants with ASD only made marginally significantly fewer fixations to the eyes of the face, and face of the person than typical controls in both conditions. Results suggest adolescents and adults with ASD can distinguish subtle emotion cues for certain emotions (genuine from feigned positive) when given sufficient processing time, however, dynamic cues are informative for recognising emotion blends (e.g. smiling in confusion). This indicates difficulties processing complex emotion responses in ASD. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
Lien vers le texte intégral (Open Access ou abonnement)
8. Field C, Allen ML, Lewis C. {{Attentional Learning Helps Language Acquisition Take Shape for Atypically Developing Children, Not Just Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2015 (Mar 3)
The shape bias-generalising labels to same shaped objects-has been linked to attentional learning or referential intent. We explore these origins in children with typical development (TD), autism spectrum disorders (ASD) and other developmental disorders (DD). In two conditions, a novel object was presented and either named or described. Children selected another from a shape, colour or texture match. TD children choose the shape match in both conditions, children with DD and ‘high-verbal mental age’ (VMA) children with ASD (language age > 4.6) did so in the name condition and ‘low-VMA’ children with ASD never showed the heuristic. Thus, the shape bias arises from attentional learning in atypically developing children and is delayed in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
9. Fortea-Sevilla MS, Escandell-Bermudez MO, Castro-Sanchez JJ, Martos-Perez J. {{[Early development of language in small children with autism spectrum disorder using alternative systems]}}. {Rev Neurol};2015 (Feb 25);60 Suppl 1:S31-35.
INTRODUCTION. The latest research findings show the importance of early intervention in children with autism spectrum disorder (ASD) in all areas of development, including language. The use of augmentative and alternative communication systems (AACS) favors linguistic and communicative development. AIM. To show the effectiveness of AACS to develop oral language in non-verbal toddlers diagnosed with ASD. PATIENTS AND METHODS. Thirty children (25 males and 5 females) diagnosed with ASD when they were between 18 and 30 months of age, through the instruments ADOS and ADIR. None of them displayed oral language development at the time of assessment. An intervention program in the area of language was designed based on the use of total communication by the therapist and training the child in the Picture Exchange Communication System (PECS). One year later, the formal aspects of language were assessed with the PLON-R because oral language had been developed. RESULTS. All the children had developed oral language to some extent over a one-year period. CONCLUSIONS. Early intervention and the use of AACS with visual props favor the development of oral language in children with ASD in the first years of life.
10. Katz N, Dejak I, Gal E. {{Work performance evaluation and QoL of adults with High Functioning Autism Spectrum Disorders (HFASD)}}. {Work};2015 (Mar 3)
BACKGROUND: Studies suggest that adults with High Functioning Autism Spectrum Disorders (HFASD) are reliant on others for support in functioning in everyday life and employment. OBJECTIVES: This study followed a work placement program for people with HFASD over a nine months period. It aimed to measure the trajectory of their work performance and Quality of life on jobs in the open market. METHODS: Twenty-six participants with HFASD ages 18-40 underwent extensive evaluation and based on it were placed in various jobs on the open market. Participants were followed for nine months at their work place at four different time points. QoL was self-assessed in addition to work performance (WPE) which was assessed both by first-hand and team member’s accounts. Team members are health professional who accompany and support the participants in the transition to their jobs.RESULTS: All 26 participants were able to maintain their jobs during the nine months of follow-up. WPE was perceived as high to start with, and its scores slightly improved by both people with HFASD and team members. Self-report suggests a significant change in the quality of life of the participants, specifically in their evaluations of self-competency.CONCLUSIONS: This study enhances the importance of providing people with HFASD with work placing programs and following up during actual work performance.
Lien vers le texte intégral (Open Access ou abonnement)
11. Kim SK. {{Recent update of autism spectrum disorders}}. {Korean J Pediatr};2015 (Jan);58(1):8-14.
In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.
Lien vers le texte intégral (Open Access ou abonnement)
12. Klin A, Klaiman C, Jones W. {{Reducing age of autism diagnosis: developmental social neuroscience meets public health challenge}}. {Rev Neurol};2015 (Feb 25);60(S01):S3-S11.
Autism spectrum disorder (autism) is a highly prevalent and heterogeneous family of neurodevelopmental disorders of genetic origins with potentially devastating implications for child, family, health and educational systems. Despite advances in paper-and-pencil screening and in standardization of diagnostic procedures, diagnosis of autism in the US still hovers around the ages of four or five years, later still in disadvantaged communities, and several years after the age of two to three years when the condition can be reliably diagnosed by expert clinicians. As early detection and treatment are two of the most important factors optimizing outcome, and given that diagnosis is typically a necessary condition for families to have access to early treatment, reducing age of diagnosis has become one of the greatest priorities of the field. Recent advances in developmental social neuroscience promise the advent of cost-effective and community-viable, performance-based procedures, and suggest a complementary method for promoting universal screening and much greater access to the diagnosis process. Small but critical studies have already reported on experiments that differentiate groups of children at risk for autism from controls, and at least one study so far could predict diagnostic classification and level of disability on the basis of a brief experiment. Although the road to translating such procedures into effective devices for screening and diagnosis is still a long one, and premature claims should be avoided, this effort could be critical in addressing this worldwide public health challenge.
13. Lehti V, Hinkka-Yli-Salomaki S, Cheslack-Postava K, Gissler M, Brown AS, Sourander A. {{Maternal socio-economic status based on occupation and autism spectrum disorders: A national case-control study}}. {Nord J Psychiatry};2015 (Mar 3):1-8.
Background: The association between parental socio-economic status (SES) and autism spectrum disorders (ASD) has been studied in several countries, but the results have been contradictory. Aims: The aim of this study was to examine the association between maternal SES and subtypes of ASD in Finland. Methods: A national case-control study was conducted. Children born in 1991-2005 and diagnosed with ASD by the year 2007 were identified from the Finnish Hospital Discharge Register (FHDR). Their matched controls were selected from the Finnish Medical Birth Register (FMBR). There were 3468 cases and 13,868 controls. The information on maternal SES was collected from the FMBR and categorized into upper white-collar workers (referent), lower white-collar workers, blue-collar workers and « others », consisting of students, housewives and other groups with unknown SES. The statistical test used was conditional logistic regression. Results: The likelihood of ASD was increased among offspring of mothers who belong to the group « others » (adjusted OR = 1.2, 95% CI 1.009-1.3). The likelihood of Asperger’s syndrome was decreased among offspring of lower white-collar workers (adjusted OR = 0.8, 95% CI 0.6-0.9) and blue-collar workers (adjusted OR = 0.6, 95% CI 0.5-0.7). The likelihood of pervasive developmental disorder not otherwise specified (PDD-NOS) was increased among offspring of blue-collar workers (adjusted OR = 1.5, 1.2-1.9) and « others » (adjusted OR = 1.3, 1.1-1.7). No association was found between maternal SES and childhood autism. Conclusions: The association between maternal SES and ASD differs by ASD subtype. Socio-economic groups might differ from each other by risk factors for ASD subtypes or by their service use.
Lien vers le texte intégral (Open Access ou abonnement)
14. Leung RC, Vogan VM, Powell TL, Anagnostou E, Taylor MJ. {{The role of executive functions in social impairment in Autism Spectrum Disorder}}. {Child Neuropsychol};2015 (Mar 3):1-9.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by socio-communicative impairments. Executive dysfunction may explain some key characteristics of ASD, both social and nonsocial hallmarks. Limited research exists exploring the relations between executive function and social impairment in ASD and few studies have used a comparison control group. Thus, the objective of the present study was to investigate the relations between executive functioning using the Behavioral Rating Inventory of Executive Functioning (BRIEF), social impairment as measured by the Social Responsiveness Scale (SRS), and overall autistic symptomology as measured by the Autism Diagnostic Observation Schedule (ADOS) in children and adolescents with and without ASD. Seventy children and adolescents diagnosed with ASD and 71 typically developing controls were included in this study. Findings showed that behavioral regulation executive processes (i.e., inhibition, shifting, and emotional control) predicted social function in all children. However, metacognitive executive processes (i.e., initiation, working memory, planning, organization, and monitoring) predicted social function only in children with ASD and not in typically developing children. Our findings suggest a distinct metacognitive executive function-social symptom link in ASD that is not present in the typical population. Understanding components of executive functioning that contribute to the autistic symptomology, particularly in the socio-communicative domain, is crucial for developing effective interventions that target key executive processes as well as underlying behavioral symptoms.
Lien vers le texte intégral (Open Access ou abonnement)
15. Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH. {{Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8}}. {Am J Psychiatry};2015 (Mar 1);172(3):266-275.
OBJECTIVE: Autism spectrum disorder is characterized by deficits in social function and the presence of repetitive and restrictive behaviors. Following a previous test of principle, the authors adopted a quantitative approach to discovering genes contributing to the broader autism phenotype by using social responsiveness as an endophenotype for autism spectrum disorder. METHOD: Linkage analyses using scores from the Social Responsiveness Scale were performed in 590 families from the Autism Genetic Resource Exchange, a largely multiplex autism spectrum disorder cohort. Regional and genomewide association analyses were performed to search for common variants contributing to social responsiveness. RESULTS: Social Responsiveness Scale scores were unimodally distributed in male offspring from multiplex autism families, in contrast with a bimodal distribution observed in female offspring. In correlated analyses differing by Social Responsiveness Scale respondent, genomewide significant linkage for social responsiveness was identified at chr8p21.3 (multipoint LOD=4.11; teacher/parent scores) and chr8q24.22 (multipoint LOD=4.54; parent-only scores), respectively. Genomewide or linkage-directed association analyses did not detect common variants contributing to social responsiveness. CONCLUSIONS: The sex-differential distributions of Social Responsiveness Scale scores in multiplex autism families likely reflect mechanisms contributing to the sex ratio for autism observed in the general population and form a quantitative signature of reduced penetrance of inherited liability to autism spectrum disorder among females. The identification of two strong loci for social responsiveness validates the endophenotype approach for the identification of genetic variants contributing to complex traits such as autism spectrum disorder. While causal mutations have yet to be identified, these findings are consistent with segregation of rare genetic variants influencing social responsiveness and underscore the increasingly recognized role of rare inherited variants in the genetic architecture of autism spectrum disorder.
Lien vers le texte intégral (Open Access ou abonnement)
16. Lyst MJ, Bird A. {{Rett syndrome: a complex disorder with simple roots}}. {Nat Rev Genet};2015 (Mar 3)
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the view that MeCP2 is a multifunctional chromatin protein that integrates diverse aspects of neuronal biology. More recently, studies have focused on specific RTT-associated mutations within the protein. This work has yielded molecular insights into the critical functions of MeCP2 that promise to simplify our understanding of RTT pathology.
Lien vers le texte intégral (Open Access ou abonnement)
17. Martin L, Lang MJ. {{Quantitative autistic traits are transmitted intergenerationally and increase risk for autism spectrum disorders}}. {Evid Based Ment Health};2015 (Mar 3)
Lien vers le texte intégral (Open Access ou abonnement)
18. Martinez-Sanchis S. {{The role of the prefrontal cortex in the sensory problems of children with autism spectrum disorder and its involvement in social aspects}}. {Rev Neurol};2015 (Feb 25);60(S01):S19-S24.
INTRODUCTION. In persons with autism spectrum disorders (ASD), aberrant sensory perceptions could be as characteristic and disruptive as the presence of anomalies in social communication and interaction or restricted and repetitive interests. Most of them present sensory modulation disorders (hyper- or hypo-responsiveness) in several sensory channels. Furthermore, there is a deficit in the integration of the information from a number of sensory systems (for example, auditory and visual). All this would worsen the core symptoms related with communication and increase the appearance of behavioural problems. AIMS. This study aims to review the experimental evidence that addresses the role played by the prefrontal cortex in unusual sensory experiences in ASD and its involvement in social aspects. There is evidence of hypoactivation and dysfunction of the neural networks, which include the prefrontal cortex and participate in social cognition, such as the default mode and the mirror neuron system in children with ASD. CONCLUSIONS. Sensory-motor problems at an early age correspond to a disruption in the organisation and regulation not only of perception and action but also language, thought, emotion and even memory.
19. Matthews NL, Smith CJ, Pollard E, Ober-Reynolds S, Kirwan J, Malligo A. {{Adaptive Functioning in Autism Spectrum Disorder During the Transition to Adulthood}}. {J Autism Dev Disord};2015 (Mar 3)
There is a dearth of research regarding adaptive functioning during the transition to adulthood in autism spectrum disorder (ASD). Profiles on the Vineland Adaptive Behavior Scales, Second Edition were examined by age and intellectual ability in 75 participants with ASD (16-58 years). Results extend previous reports of a cognitive advantage over adaptive functioning in children by demonstrating a similar pattern in an older sample. Daily living skills were a relative strength compared to communication and socialization in adults, but not adolescents. In general, highest subdomain scores were observed in writing skills and lowest scores were observed in interpersonal skills. Regardless of cognitive ability, all standard scores were well below average, indicating a need for lifelong intervention that targets adaptive functioning.
Lien vers le texte intégral (Open Access ou abonnement)
20. Myers E, Davis BE, Stobbe G, Bjornson K. {{Community and Social Participation Among Individuals with Autism Spectrum Disorder Transitioning to Adulthood}}. {J Autism Dev Disord};2015 (Mar 1)
Individuals with Autism Spectrum Disorders (ASDs) are at increased risk for poor psychosocial outcomes as adults. We described community and social participation in adolescents with ASDs as they transitioned from adolescence to adulthood, and identified adolescent factors associated with community and social participation outcomes in adulthood. We performed a secondary data analysis of a nationally representative cohort using the National Longitudinal Transition Study 2 and observed a significant decrease in community participation from adolescence to adulthood (63 to 46 %); social participation remained stable. The presence of case management in adolescence was associated with increased community and social participation in adulthood. Case management may be crucial for optimal levels of participation among adults with ASDs.
Lien vers le texte intégral (Open Access ou abonnement)
21. Pellanda G, Lava SA, Ferrarini A, Ramelli GP. {{High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders}}. {Eur J Paediatr Neurol};2015 (Feb 13)
Lien vers le texte intégral (Open Access ou abonnement)
22. Perkins TJ, Bittar RG, McGillivray JA, Cox, II, Stokes MA. {{Increased premotor cortex activation in high functioning autism during action observation}}. {J Clin Neurosci};2015 (Feb 25)
The mirror neuron (MN) hypothesis of autism has received considerable attention, but to date has produced inconsistent findings. Using functional MRI, participants with high functioning autism or Asperger’s syndrome were compared to typically developing individuals (n=12 in each group). Participants passively observed hand gestures that included waving, pointing, and grasping. Concerning the MN network, both groups activated similar regions including prefrontal, inferior parietal and superior temporal regions, with the autism group demonstrating significantly greater activation in the dorsal premotor cortex. Concerning other regions, participants with autism demonstrated increased activity in the anterior cingulate and medial frontal gyrus, and reduced activation in calcarine, cuneus, and middle temporal gyrus. These results suggest that during observation of hand gestures, frontal cortex activation is affected in autism, which we suggest may be linked to abnormal functioning of the MN system.
Lien vers le texte intégral (Open Access ou abonnement)
23. Ruggieri VL, Arberas CL. {{[Therapeutic approaches in autism spectrum disorders]}}. {Rev Neurol};2015 (Feb 25);60 Suppl 1:S45-49.
Autistic spectrum disorders affect one out of every 68 persons, with a 4:1 dominance in males. Since they are dysfunctions rather than irreversible injuries to the central nervous system, which can be attributed to deficits in the neuronal networks and synaptogenesis and are modifiable thanks to the plasticity of the brain, starting therapy as early as possible is essential for more favourable progress. Very few treatments are backed by solid scientific evidence. We will analyse the therapeutic approaches oriented towards improving autism spectrum disorders which showed a clinical improvement that can be related to neurophysiological or functional changes in the central nervous system. We will classify the behavioural educational treatments and those in the research phase into a hierarchy, highlighting the neurogenetic entities with a high prevalence of autism, in which their pathophysiology and molecular base are known, that attempt to modify the consequences of those alterations by means of pharmacological agents. These entities include fragile X syndrome (GABAergic and metabotropic glutamate receptor inhibitors), tuberous sclerosis (mTOR inhibitors), Phelan-McDermid syndrome and Rett syndrome (insulin-like growth factor 1 inhibitors). Oxytocin, which has been shown to improve social cognition in persons with autism spectrum disorders, is analysed separately.
24. Valk SL, Di Martino A, Milham MP, Bernhardt BC. {{Multicenter mapping of structural network alterations in autism}}. {Hum Brain Mapp};2015 (Feb 25)
Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions primarily characterized by abnormalities in social cognition. Abundant previous functional MRI studies have shown atypical activity in networks encompassing medial prefrontal cortex (mPFC) and medial parietal regions corresponding to posterior cingulate cortex and precuneus (PCC/PCU). Conversely, studies assessing structural brain anomalies in ASD have been rather inconsistent. The current work evaluated whether structural changes in ASD can be reliability detected in a large multicenter dataset. Our comprehensive structural MRI framework encompassed cortical thickness mapping and structural covariance analysis based on three independent samples comprising individuals with ASD and controls (n = 220), selected from the Autism Brain Imaging Data Exchange open-access database. Surface-based analysis revealed increased cortical thickness in ASD relative to controls in mPFC and lateral prefrontal cortex. Clusters encompassing mPFC were embedded in altered inter-regional covariance networks, showing decreased covariance in ASD relative to controls primarily to PCC/PCU and inferior parietal regions. Cortical thickness increases and covariance reductions in ASD were consistent, yet of variable effect size, across the different sites evaluated and measurable both in children and adults. Our multisite study shows regional and network-level structural alterations in mPFC in ASD that, possibly, relate to atypical socio-cognitive functions in this condition. Hum Brain Mapp, 2015. (c) 2015 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
25. Wang H. {{Fragile X mental retardation protein: from autism to neurodegenerative disease}}. {Front Cell Neurosci};2015;9:43.
Lien vers le texte intégral (Open Access ou abonnement)
26. Xu N, Li X, Zhong Y. {{Inflammatory Cytokines: Potential Biomarkers of Immunologic Dysfunction in Autism Spectrum Disorders}}. {Mediators Inflamm};2015;2015:531518.
Autism is a disorder of neurobiological origin characterized by problems in communication and social skills and repetitive behavior. After more than six decades of research, the etiology of autism remains unknown, and no biomarkers have been proven to be characteristic of autism. A number of studies have shown that the cytokine levels in the blood, brain, and cerebrospinal fluid (CSF) of autistic subjects differ from that of healthy individuals; for example, a series of studies suggests that interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), and interferon-gamma (IFN-gamma) are significantly elevated in different tissues in autistic subjects. However, the expression of some cytokines, such as IL-1, IL-2, transforming growth factor-beta (TGF-beta), and granulocyte-macrophage colony-stimulating factor (GM-CSF), is controversial, and different studies have found various results in different tissues. In this review, we focused on several types of proinflammatory and anti-inflammatory cytokines that might affect different cell signal pathways and play a role in the pathophysiological mechanism of autistic spectrum disorders.
Lien vers le texte intégral (Open Access ou abonnement)
27. Zhao XN, Usdin K. {{The Transcription Coupled Repair Protein ERCC6/CSB also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation}}. {Hum Mutat};2015 (Feb 27)
The Fragile X-related disorders (FXDs) are members of the group of diseases known as the Repeat Expansion Diseases. The FXDs result from expansion of an unstable CGG/CCG repeat tract in the 5′ UTR of the FMR1 gene. Contractions are also seen, albeit at lower frequency. We have previously shown that ERCC6/CSB plays an auxiliary role in promoting germ line and somatic expansions in a mouse model of the FXDs. However, work in model systems of other Repeat Expansion Diseases has suggested that CSB may protect against expansions by promoting contractions. Since FXD mice normally have such a high expansion frequency, it is possible that such a protective effect would have been masked. We thus examined the effect of the loss of CSB in a Msh2+/- background where the germ line expansion frequency is reduced and in a Msh2-/- background where expansions do not occur, but contractions do. Our data show that in addition to promoting repeat expansion, CSB does in fact protect the genome from germ line expansions in the FXD mouse model. However, it likely does so not by promoting contractions but by promoting an error-free process that preserves the parental allele. This article is protected by copyright. All rights reserved.
