1. Amancio AP, de OMCA, de MVA, Minasi LB, de MESD, da Silva CC, da Cruz AD. {{Molecular analysis of patients suspected of Fragile X Syndrome}}. {Genet Mol Res};2015;14(4):14660-14669.
The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goias, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were selected for this study. Two PCR analyses were performed using different primers, one for screening (PCR-T) and one for the detection of the pre-mutation (PCR-P). The products of both PCRs were subjected to polyacrylamide gel electrophoresis and then coloring. The visualization of amplicons was performed with the aid of an ultraviolet transilluminator. The diagnosis was confirmed in 88% of patients with PCR-T and 100% with PCR-P. The primer used in PCR-P was found to be more sensitive and specific, allowing to identify the mutation in the samples, generating a more conclusive case for FXS, noting that the PCR-T is also required for the pre-classification of patients. Generally, the PCR technique is cheaper and easier to handle; therefore, we suggest the implementation of PCR in the genetics laboratory of the State of Goias (LaGene) for the diagnosis of FXS.
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2. Assis ZA, Bagepally BS, Saini J, Srinath S, Bharath RD, Naidu PR, Gupta AK. {{Childhood autism in India: A case-control study using tract-based spatial statistics analysis}}. {Indian J Psychiatry};2015 (Jul-Sep);57(3):272-277.
CONTEXT: Autism is a serious behavioral disorder among young children that now occurs at epidemic rates in developing countries like India. We have used tract-based spatial statistics (TBSS) of diffusion tensor imaging (DTI) measures to investigate the microstructure of primary neurocircuitry involved in autistic spectral disorders as compared to the typically developed children. OBJECTIVE: To evaluate the various white matter tracts in Indian autistic children as compared to the controls using TBSS. MATERIALS AND METHODS: Prospective, case-control, voxel-based, whole-brain DTI analysis using TBSS was performed. The study included 19 autistic children (mean age 8.7 years +/- 3.84, 16 males and 3 females) and 34 controls (mean age 12.38 +/- 3.76, all males). Fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD) values were used as outcome variables. RESULTS: Compared to the control group, TBSS demonstrated multiple areas of markedly reduced FA involving multiple long white matter tracts, entire corpus callosum, bilateral posterior thalami, and bilateral optic tracts (OTs). Notably, there were no voxels where FA was significantly increased in the autism group. Increased RD was also noted in these regions, suggesting underlying myelination defect. The MD was elevated in many of the projections and association fibers and notably in the OTs. There were no significant changes in the AD in these regions, indicating no significant axonal injury. There was no significant correlation between the FA values and Childhood Autism Rating Scale. CONCLUSION: This is a first of a kind study evaluating DTI findings in autistic children in India. In our study, DTI has shown a significant fault with the underlying intricate brain wiring system in autism. OT abnormality is a novel finding and needs further research.
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3. Awasthi P, Peshwani B, Tiwari S, Thakur R, Shashikiran ND, Singla S. {{Evaluation and comparison of the efficacy of low fluoridated and calcium phosphate-based dentifrice formulations when used with powered and manual toothbrush in children with autism}}. {Contemp Clin Dent};2015 (Sep);6(Suppl 1):S188-191.
BACKGROUND: Autism is a neurobiological disorder characterized by impaired social interaction, communication difficulties, and lacking manual dexterity. These limitations make the oral hygiene maintenance very difficult. AIM: The aim of this present study is to evaluate and compare the efficacy of low fluoridated and calcium phosphate-based dentifrice formulations when used with powered and manual toothbrush in children with autism. SETTING AND DESIGN: Sample comprised 22 children with autism who daily visited a day care and education center named ARUSHI – a center for children with special health care needs in Bhopal. METHODS: Children were divided into two groups (Group A and B) according to toothbrush used and further divided into subgroups (A1 and B1 [low fluoridated – Pediflor toothpaste] and A2 and B2 [calcium sucrose phosphate – Enafix toothpaste]). Oral hygiene instructions and brushing technique demonstration were given every day for a period of 1-month. Oral health status was evaluated before and after the study using simplified oral hygiene index (OHI-S) and its Miglani’s modification for primary dentition, plaque index (PI), gingival index (GI), and decayed, missing, and filled teeth (DMFT)/deft index. The perception of parents regarding oral hygiene practices for their kids was also evaluated by an awareness and attitude questionnaire. STATISTICAL ANALYSIS: OHI-S, GI, PI, and DMFT/deft were statistically evaluated using Mann-Whitney U- test. RESULTS AND CONCLUSION: Mean value of OHI-S decreased significantly with powered toothbrush (0.035 [P < 0.05]) in both groups. However, PI decreased significantly for Enafix when used with powered toothbrush (0.042 [P < 0.05]). Perception of parents was seen to improve significantly after 1-month study (0.000 [P < 0.05]). Lien vers le texte intégral (Open Access ou abonnement)
4. Barber AB, Saffo RW, Gilpin AT, Craft LD, Goldstein H. {{Peers as clinicians: Examining the impact of Stay Play Talk on social communication in young preschoolers with autism}}. {J Commun Disord};2015 (Aug 7);59:1-15.
BACKGROUND: Peer Mediated Interventions (PMIs) can be incorporated into integrated early childhood and preschool settings to address socialization impairments observed in children with ASD (Katz & Girolametto, 2013). However, research examining specific PMI strategies with young preschoolers remains limited. OBJECTIVE: The current study examines the efficacy of the Stay, Play, Talk PMI (English, Shafer, Goldstein, & Kaczmerek, 1997) on the social communication skills of young preschool children diagnosed with an Autism Spectrum Disorder (ASD). METHOD: Each of 3 typically developing children (ages 3-5 years) was paired with a child with an ASD (ages 3-4 years). Typically developing peers were taught to Stay with their friend, Play with their friend, and Talk to their friend. The child dyads played together during two, 20-min weekly sessions for 6-8 weeks. A multiple baseline design across participants was implemented to measure the impact of the Stay Play Talk strategies on social initiations and responses characterized by non-coordinated gestures, gestures, and words. Simulation Modeling Analysis was also conducted to confirm visual analysis. RESULTS: All 3 typical peer buddies and all 3 target children with ASD demonstrated increases in the frequency of their responses, reaching levels that greatly exceeded baseline levels. Further, social reciprocations increased among each dyad above baseline. Social initiations remained variable across dyads. Gains were not maintained two months post intervention. CONCLUSION: Results of this study corroborated previous findings that support the usefulness of PMIs to improve social communication of young children with ASD (Chan et al., 2009) and suggest an economical, naturally occurring approach to improve social communication during early childhood. LEARNING OUTCOMES: Readers will gain knowledge regarding the social communication profile of children with ASD and how this profile can negatively impact language development and peer relationships. In addition, readers will be able to identify the basic components of the Stay Play Talk intervention. Finally, this paper will explain the impacts of the Stay Play Talk intervention on the social communication skills of young children with ASD.
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5. Barber C. {{Old age and people on the autism spectrum: a focus group perspective}}. {Br J Nurs};2015 (Nov 26);24(21):1054-1057.
Until recently, the focus of many within the ‘autism service industry’ has been on children and young adults who are on the autism spectrum where ‘service transition’ usually refers specifically to the transition from children to adult service provision. This article explores ‘service transition’ from the opposite end of the age scale, that of old age, and incorporates the views of older adults who are on the autism spectrum. In order to design and provide a service that is ‘fit for purpose’, training of health professionals and consulting with people on the autism spectrum is crucial.
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6. Barnard-Brak L, Brewer A, Chesnut S, Richman D, Schaeffer AM. {{The sensitivity and specificity of the social communication questionnaire for autism spectrum with respect to age}}. {Autism Res};2015 (Nov 26)
The age neutrality of the Social Communication Questionnaire (SCQ) was examined as a common screener for ASD. Mixed findings have been reported regarding the recommended cutoff score’s ability to accurately classify an individual as at-risk for autism spectrum disorder (ASD) (sensitivity) versus accurately classifying an individual as not at-risk for ASD (specificity). With a sample from the National Database for Autism Research, this study examined the SCQ’s sensitivity versus specificity. Analyses indicated that the actual sensitivity and specificity scores were lower than initially reported by the creators of the SCQ. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Chang AD, Berges VA, Chung SJ, Fridman GY, Baraban JM, Reti IM. {{High-Frequency Stimulation at the Subthalamic Nucleus Suppresses Excessive Self-Grooming in Autism-Like Mouse Models}}. {Neuropsychopharmacology};2015 (Nov 26)
Approximately one quarter of individuals with an autism spectrum disorder (ASD) display self-injurious behavior (SIB) ranging from head banging to self-directed biting and punching. Sometimes, these behaviors are extreme and unresponsive to pharmacological and behavioral therapies. We have found electroconvulsive therapy (ECT) can produce life-changing results, with more than 90% suppression of SIB frequency. However, these patients typically require frequent maintenance ECT (mECT), as often as every 5 days, to sustain the improvement gained during the acute course. Long-term consequences of such frequent mECT started as early as childhood in some cases are unknown. Accordingly, there is a need for alternative forms of chronic stimulation for these patients. To explore the feasibility of deep brain stimulation (DBS) for intractable SIB seen in some patients with an ASD, we utilized two genetically distinct mouse models demonstrating excessive self-grooming, namely the Viaat-Mecp2-/y and Shank3B-/- lines, and administered high-frequency stimulation (HFS) via implanted electrodes at the subthalamic nucleus (STN-HFS). We found that STN-HFS significantly suppressed excessive self-grooming in both genetic lines. Suppression occurs both acutely when stimulation is switched on, and persists for several days after HFS is stopped. This effect was not explained by a change in locomotor activity, which was unaffected by STN-HFS. Likewise, social interaction deficits were not corrected by STN-HFS. Our data show STN-HFS suppresses excessive self-grooming in two autism-like mouse models, raising the possibility DBS might be used to treat intractable SIB associated with ASDs. Further studies are required to explore the circuitry engaged by STN-HFS, as well as other potential stimulation sites. Such studies might also yield clues about pathways, which could be modulated by non-invasive stimulatory techniques.Neuropsychopharmacology advance online publication, 16 December 2015; doi:10.1038/npp.2015.350.
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8. Cross J, Yang JC, Johnson FR, Quiroz J, Dunn J, Raspa M, Bailey DB, Jr. {{Caregiver Preferences for the Treatment of Males with Fragile X Syndrome}}. {J Dev Behav Pediatr};2015 (Nov 20)
OBJECTIVE: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. The objective of this study was to determine the relative importance that caregivers place on improving different phenotypic traits observed in males with FXS to better understand the greatest medical needs for developing and evaluating FXS treatments. METHOD: Fragile X syndrome caregivers (n = 614) compared hypothetical treatments in a discrete-choice experiment. The treatments varied in their effects on 6 outcomes associated with FXS: learning and applying new skills, explaining needs, controlling behavior, taking part in new social activities, caring for oneself, and paying attention. The relative importance was calculated for improving severe or moderate levels of disability and transformed to a 10-point scale. Relative importance was also quantified by patient age group (child, adolescent, and adult). RESULTS: Most important to caregivers were controlling behavior (10.0) and caring for oneself (9.9). Least important was taking part in new social activities (4.2). A partial improvement in controlling behavior or self-care was more important than full resolution of the least important disabilities. This was consistent across age groups. Improvements from severe to moderate disability were more important than from moderate to no disability. CONCLUSION: Caregivers expressed strong preferences for improvement in self-care and behavioral control, independent of the age of the individual with FXS. These data may be helpful when designing studies to test the efficacy of FXS treatments because small treatment effects on very important outcomes may be valued more than large treatment effects on less valued outcomes.
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9. Dachtler J, Ivorra JL, Rowland TE, Lever C, Rodgers RJ, Clapcote SJ. {{Heterozygous deletion of alpha-neurexin I or alpha-neurexin II results in behaviors relevant to autism and schizophrenia}}. {Behav Neurosci};2015 (Dec);129(6):765-776.
The neurexins are a family of presynaptic cell adhesion molecules. Human genetic studies have found heterozygous deletions affecting NRXN1 and NRXN2, encoding alpha-neurexin I (Nrxn1alpha) and alpha-neurexin II (Nrxn2alpha), in individuals with autism spectrum disorders and schizophrenia. However, the link between alpha-neurexin deficiency and the manifestation of psychiatric disorders remain unclear. To assess whether the heterozygous loss of neurexins results in behaviors relevant to autism or schizophrenia, we used mice with heterozygous (HET) deletion of Nrxn1alpha or Nrxn2alpha. We found that in a test of social approach, Nrxn1alpha HET mice show no social memory for familiar versus novel conspecifics. In a passive avoidance test, female Nrxn1alpha HET mice cross to the conditioned chamber sooner than female wild-type and Nrxn2alpha HET mice. Nrxn2alpha HET mice also express a lack of long-term object discrimination, indicating a deficit in cognition. The observed Nrxn1alpha and Nrxn2alpha genotypic effects were specific, as neither HET deletion had effects on a wide range of other behavioral measures, including several measures of anxiety. Our findings demonstrate that the heterozygous loss of alpha-neurexin I and alpha-neurexin II in mice leads to phenotypes relevant to autism and schizophrenia. (PsycINFO Database Record
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10. D’Mello AM, Stoodley CJ. {{Cerebro-cerebellar circuits in autism spectrum disorder}}. {Front Neurosci};2015;9:408.
The cerebellum is one of the most consistent sites of abnormality in autism spectrum disorder (ASD) and cerebellar damage is associated with an increased risk of ASD symptoms, suggesting that cerebellar dysfunction may play a crucial role in the etiology of ASD. The cerebellum forms multiple closed-loop circuits with cerebral cortical regions that underpin movement, language, and social processing. Through these circuits, cerebellar dysfunction could impact the core ASD symptoms of social and communication deficits and repetitive and stereotyped behaviors. The emerging topography of sensorimotor, cognitive, and affective subregions in the cerebellum provides a new framework for interpreting the significance of regional cerebellar findings in ASD and their relationship to broader cerebro-cerebellar circuits. Further, recent research supports the idea that the integrity of cerebro-cerebellar loops might be important for early cortical development; disruptions in specific cerebro-cerebellar loops in ASD might impede the specialization of cortical regions involved in motor control, language, and social interaction, leading to impairments in these domains. Consistent with this concept, structural, and functional differences in sensorimotor regions of the cerebellum and sensorimotor cerebro-cerebellar circuits are associated with deficits in motor control and increased repetitive and stereotyped behaviors in ASD. Further, communication and social impairments are associated with atypical activation and structure in cerebro-cerebellar loops underpinning language and social cognition. Finally, there is converging evidence from structural, functional, and connectivity neuroimaging studies that cerebellar right Crus I/II abnormalities are related to more severe ASD impairments in all domains. We propose that cerebellar abnormalities may disrupt optimization of both structure and function in specific cerebro-cerebellar circuits in ASD.
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11. Gore G, Pai-Dhungat JV. {{Autism–Need for Awareness}}. {J Assoc Physicians India};2015 (Jan);63(1):71-72.
12. Hampson DR, Blatt GJ. {{Autism spectrum disorders and neuropathology of the cerebellum}}. {Front Neurosci};2015;9:420.
The cerebellum contains the largest number of neurons and synapses of any structure in the central nervous system. The concept that the cerebellum is solely involved in fine motor function has become outdated; substantial evidence has accumulated linking the cerebellum with higher cognitive functions including language. Cerebellar deficits have been implicated in autism for more than two decades. The computational power of the cerebellum is essential for many, if not most of the processes that are perturbed in autism including language and communication, social interactions, stereotyped behavior, motor activity and motor coordination, and higher cognitive functions. The link between autism and cerebellar dysfunction should not be surprising to those who study its cellular, physiological, and functional properties. Postmortem studies have revealed neuropathological abnormalities in cerebellar cellular architecture while studies on mouse lines with cell loss or mutations in single genes restricted to cerebellar Purkinje cells have also strongly implicated this brain structure in contributing to the autistic phenotype. This connection has been further substantiated by studies investigating brain damage in humans restricted to the cerebellum. In this review, we summarize advances in research on idiopathic autism and three genetic forms of autism that highlight the key roles that the cerebellum plays in this spectrum of neurodevelopmental disorders.
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13. Hardan AY, Fung LK, Frazier T, Berquist SW, Minshew NJ, Keshavan MS, Stanley JA. {{A proton spectroscopy study of white matter in children with autism}}. {Prog Neuropsychopharmacol Biol Psychiatry};2015 (Nov 16);66:48-53.
White matter abnormalities have been described in autism spectrum disorder (ASD) with mounting evidence implicating these alterations in the pathophysiology of the aberrant connectivity reported in this disorder. The goal of this investigation is to further examine white matter structure in ASD using proton magnetic resonance spectroscopy (1H MRS). Multi-voxel, short echo-time in vivo1H MRS data were collected from 17 male children with ASD and 17 healthy age- and gender-matched controls. Key 1H MRS metabolite ratios relative to phosphocreatine plus creatine were obtained from four different right and left white matter regions. Significantly lower N-acetylaspartate/creatine ratios were found in the anterior white matter regions of the ASD group when compared to controls. These findings reflect impairment in neuroaxonal white matter tissue and shed light on the neurobiologic underpinnings of white matter abnormalities in ASD by implicating an alteration in myelin and/or axonal development in this disorder.
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14. Huynh K. {{Antiplatelet therapy: Clopidogrel plus aspirin reduces migrane attacks after ASD closure}}. {Nat Rev Cardiol};2016 (Jan);13(1):2-3.
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15. Johnson TD, Joshi A. {{Dark Clouds or Silver Linings? A Stigma Threat Perspective on the Implications of an Autism Diagnosis for Workplace Well-Being}}. {J Appl Psychol};2015 (Nov 23)
This article unpacks the stigma associated with a developmental disability at work, specifically autism spectrum disorders (ASD), by presenting findings from 2 studies-one interview-based and the other survey-based. Drawing on in-depth interviews with individuals on the autism spectrum, the first study showed that a clinical diagnosis of autism is a milestone event that triggered both positive (silver linings) and negative (dark clouds) responses to work. These positive and negative responses were shaped by the age at which the diagnosis occurred as well as specific work-related contingencies-identity management (disclosing or not disclosing), the importance of the social demands imposed by the job, and organizational support polices for autism. The second study developed and tested propositions derived from the qualitative data by using survey data gathered from working adults with ASD. Results showed that, compared with individuals diagnosed later in life, individuals who were diagnosed at an earlier age experienced greater organization-based self-esteem and lower perceived discrimination when they disclosed their disability, worked in jobs that placed lower social demands on them, or were employed in organizations that offered policies to support workers with ASD. We conclude that, depending on the age of diagnosis, attributes of the employment context can trigger stigma-related threat in different ways and we outline important practical implications of these findings. (PsycINFO Database Record
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16. Jung M, Mody M, Saito DN, Tomoda A, Okazawa H, Wada Y, Kosaka H. {{Sex Differences in the Default Mode Network with Regard to Autism Spectrum Traits: A Resting State fMRI Study}}. {PLoS One};2015;10(11):e0143126.
Autism spectrum traits exist on a continuum and are more common in males than in females, but the basis for this sex difference is unclear. To this end, the present study draws on the extreme male brain theory, investigating the relationship between sex difference and the default mode network (DMN), both known to be associated with autism spectrum traits. Resting-state functional magnetic resonance imaging (MRI) was carried out in 42 females (mean age +/- standard deviation, 22.4 +/- 4.2 years) and 43 males (mean age +/- standard deviation, 23.8 +/- 3.9 years) with typical development. Using a combination of different analyses (viz., independent component analysis (ICA), fractional amplitude of low-frequency fluctuation (fALFF), regional homogeneity (ReHo), and seed-based analyses), we examined sex differences in the DMN and the relationship to autism spectrum traits as measured by autism-spectrum quotient (AQ) scores. We found significant differences between female and male subjects in DMN brain regions, with seed-based analysis revealing a significant negative correlation between default-mode resting state functional connectivity of the anterior medial prefrontal cortex seed (aMPFC) and AQ scores in males. However, there were no relationships between DMN sex differences and autism spectrum traits in females. Our findings may provide important insight into the skewed balance of functional connectivity in males compared to females that could serve as a potential biomarker of the degree of autism spectrum traits in line with the extreme male brain theory.
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17. Kalmbach BE, Johnston D, Brager DH. {{Cell-Type Specific Channelopathies in the Prefrontal Cortex of the fmr1-/y Mouse Model of Fragile X Syndrome(1,2,3)}}. {eNeuro};2015 (Nov-Dec);2(6)
Fragile X syndrome (FXS) is caused by transcriptional silencing of the fmr1 gene resulting in the loss of fragile X mental retardation protein (FMRP) expression. FXS patients display several behavioral phenotypes associated with prefrontal cortex (PFC) dysfunction. Voltage-gated ion channels, some of which are regulated by FMRP, heavily influence PFC neuron function. Although there is evidence for brain region-specific alterations to the function a single type of ion channel in FXS, it is unclear whether subtypes of principal neurons within a brain region are affected uniformly. We tested for alterations to ion channels critical in regulating neural excitability in two subtypes of prefrontal L5 pyramidal neurons. Using somatic and dendritic patch-clamp recordings, we provide evidence that the functional expression of h-channels (I h) is down-regulated, whereas A-type K(+) channel function is up-regulated in pyramidal tract-projecting (PT) neurons in the fmr1-/y mouse PFC. This is the opposite pattern of results from published findings from hippocampus where I h is up-regulated and A-type K(+) channel function is down-regulated. Additionally, we find that somatic Kv1-mediated current is down-regulated, resulting in increased excitability of fmr1-/y PT neurons. Importantly, these h- and K(+) channel differences do not extend to neighboring intratelencephalic-projecting neurons. Thus, the absence of FMRP has divergent effects on the function of individual types of ion channels not only between brain regions, but also variable effects across cell types within the same brain region. Given the importance of ion channels in regulating neural circuits, these results suggest cell-type-specific phenotypes for the disease.
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18. Kovalenko IL, Kudryavtseva NN. {{[Alteration of Social Behaviors in Male Mice of CBA/Lac Strain under Agonistic Interactions]}}. {Zh Vyssh Nerv Deiat Im I P Pavlova};2015 (Jul-Aug);65(4):486-497.
Ability of people to communicate with each other is a necessary component of social behavior and normal development of individuals living in community. A pronounced impairment in communication may be the result of autism which is characterized by impaired socialization, low communication and restricted and/or repetitive behaviors. It is hypothesized that genes or rare mutations play a key role in the development of autism. However a multifold increase of the cases with autistic spectrum symptoms over the last years cannot be attributed exclusively to genetic mutations or heredity. Environmental contribution to the development of autistic symptoms has to be considered. The paper aimed to analyze the social behaviors of CBA/Lac mice with repeated experience of aggression or social defeats in daily agonistic interactions with accent on searches of associations with autistic symptoms in comparison with previously studied C57BL/6J animals. It has been shown that male mice of both strains with alternative social behaviors demonstrated the changes in social behaviors; however the expression of some form of behaviors was different. The data obtained to assert that long-term hostile social environment lead to development of disturbances in social behaviors, accompanying by autistic-like symptoms.
19. Lambrechts G, Maljaars J, Boonen H, van Esch L, Van Leeuwen K, Noens I. {{Parenting Behavior in Mothers of Preschool Children with ASD: Development of a Self-Report Questionnaire}}. {Autism Res Treat};2015;2015:381236.
Parents of young children with autism spectrum disorder (ASD) encounter many daily challenges and often experience much stress. However, little research exists about parenting behavior among these parents. With this study, we aim to address this gap. We examined the structure and internal consistency of a questionnaire intended to measure parenting behavior among mothers of young children with ASD. Furthermore, we compared parenting behavior among mothers of young children with and without ASD between two and six years old. Factor analyses resulted in a factor solution with seven subscales of parenting behavior. Two additional subscales especially relevant for parenting preschoolers with ASD were also considered. Analyses of covariance, controlling for gender and age, showed significantly higher scores for Discipline and Stimulating the Development in the control group in comparison with the ASD group. These findings suggest that mothers of preschoolers with ASD are still trying to find strategies to guide and stimulate their child’s behavior and development effectively.
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20. Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. {{SATB2-associated syndrome presenting with Rett-like phenotypes}}. {Clin Genet};2015 (Nov 24)
The SATB2-associated syndrome was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SATB2-associated syndrome. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate.
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21. Lever AG, Werkle-Bergner M, Brandmaier AM, Ridderinkhof KR, Geurts HM. {{Atypical working memory decline across the adult lifespan in autism spectrum disorder?}}. {J Abnorm Psychol};2015 (Nov);124(4):1014-1026.
Whereas working memory (WM) performance in typical development increases across childhood and adolescence, and decreases during adulthood, WM development seems to be delayed in young individuals with autism spectrum disorder (ASD). How WM changes when individuals with ASD grow old is largely unknown. We bridge this gap with a cross-sectional study comparing age-related patterns in WM performance (n-back task: 3 load levels) among a large sample of individuals with and without ASD (N = 275) over the entire adult life span (19-79 years) as well as interindividual differences therein. Results demonstrated that, despite longer RTs, adults with ASD showed similar WM performance to adults without ASD. Age-related differences appeared to be different among adults with and without ASD as adults without ASD showed an age-related decline in WM performance, which was not so evident in adults with ASD. Moreover, only IQ scores reliably dissociated interindividual differences in age-gradients, but no evidence was found for a role of basic demographics, comorbidities, and executive functions. These findings provide initial insights into how ASD modulates cognitive aging, but also underline the need for further WM research into late adulthood in ASD and for analyzing individual change trajectories in longitudinal studies. (PsycINFO Database Record
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22. Lobar SL. {{DSM-V Changes for Autism Spectrum Disorder (ASD): Implications for Diagnosis, Management, and Care Coordination for Children With ASDs}}. {J Pediatr Health Care};2015 (Oct 23)
The purpose of this article is to highlight issues about diagnosis and management of autism spectrum disorders (ASDs) in all settings, along with care coordination for all children with ASDs. The article outlines differences between the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, 4th edition, revised (DSM-IV-TR) and the newer version (DSM-V) for ASDs. These changes may limit the eligibility of some children for services in school, leading to poorer social/academic outcomes, lower rates of employment, and decreased assistance in eventual independent living. Primary care providers identified a lack of knowledge regarding ASDs before the DSM-V was published, describing difficulty in making ASD diagnoses, recognizing early symptoms of developmental concern, and managing care. Care coordination is part of the role of the advanced practice nurse, and lack of understanding of ASD changes in the DSM-V may diminish the ability of advanced practice nurses to screen for ASDs and make the appropriate referrals.
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23. McGuire K, Erickson C, Gabriels RL, Kaplan D, Mazefsky C, McGonigle J, Meservy J, Pedapati E, Pierri J, Wink L, Siegel M. {{Psychiatric Hospitalization of Children With Autism or Intellectual Disability: Consensus Statements on Best Practices}}. {J Am Acad Child Adolesc Psychiatry};2015 (Dec);54(12):969-971.
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24. Nicholas DB, Zwaigenbaum L, Ing S, MacCulloch R, Roberts W, McKeever P, McMorris CA. {{« Live It to Understand It »: The Experiences of Mothers of Children With Autism Spectrum Disorder}}. {Qual Health Res};2015 (Nov 26)
Mothers of children with an autism spectrum disorder (ASD) variably experience challenges in their caregiving role. This ethnographic study examined the caregiving experiences of mothers of a young person with ASD (aged Lien vers le texte intégral (Open Access ou abonnement)
25. Parisi L, Di Filippo T, Roccella M. {{Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome}}. {Ment Illn};2015 (Sep 30);7(2):5988.
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.
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26. Posner DS. {{W. Solomon, C. Holland, M. J. Middleton: Autism and Understanding: The Waldon Approach to Child Development : SAGE Publications, London, 2012, 240 pp, $50.00 (paper), ISBN-10: 1446209245}}. {J Autism Dev Disord};2015 (Nov 24)
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27. Schroeder JC, Reim D, Boeckers TM, Schmeisser MJ. {{Genetic Animal Models for Autism Spectrum Disorder}}. {Curr Top Behav Neurosci};2015 (Nov 25)
Autism spectrum disorder (ASD) affects approximately 1 % of the human population and has a strong genetic component. Hence, the recent discovery of major « ASD genes » has subsequently resulted in the generation of several genetic animal models of ASD. Careful analysis of behavioral phenotypes and characterization of the underlying neurobiological mechanisms in these models should further help us to identify novel therapeutic targets and develop more effective strategies in the future to ameliorate or even reverse core symptoms and comorbidities of ASD. In this review, we will focus on the mutant mouse as animal model and outline how to characterize both behavioral and neurobiological phenotypes in this organism. We will further discuss a selection of major ASD mutant mouse lines. Our conclusions will finally address the current goals and perspectives in the field to obtain a more comprehensive and possibly also converging picture of ASD pathogenesis, which could be most useful for the desired bench-to-bedside strategy of translational medicine for this complex disorder.
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28. Shafai F, Armstrong K, Iarocci G, Oruc I. {{Visual orientation processing in autism spectrum disorder: No sign of enhanced early cortical function}}. {J Vis};2015 (Nov 1);15(15):18.
It has been suggested that enhanced perceptual processing underlies some of the social difficulties associated with autism spectrum disorder (ASD). While a variety of visual tasks have been reported in which individuals with ASD outperform neurotypical individuals in control groups, the precise origin of such effects within the visual pathway remains unclear. It has recently been established that visual acuity is intact yet unremarkable in ASD. This suggests that the earliest levels of retinal processing are an unlikely candidate as the source of differences. The next potential levels for divergent visual processing are those involved in processing simple aspects of visual stimuli, such as orientation and spatial frequency, considered to be functions of early visual cortex. Here we focused on the basic processing of orientation. In three experiments, we assessed three basic aspects of orientation processing-discrimination, veridical perception, and detection-in participants with ASD in comparison to age-, gender-, and IQ-matched adults without ASD. Each experiment allowed for both qualitative and quantitative comparisons between the two groups. These provided a dense array of data indicating that participants with ASD perceive orientation of low-level stimuli in a qualitatively (as well as quantitatively) similar manner to participants without ASD in control groups, with no evidence of superior processing in detection, precision, or accuracy aspects of orientation perception. These results suggest that the source for altered perceptual abilities should be sought elsewhere, possibly in specific subgroups of people with ASD, other aspects of low-level vision such as spatial frequency, or subsequent levels of visual processing.
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29. Sheppard E, Pillai D, Wong GT, Ropar D, Mitchell P. {{How Easy is it to Read the Minds of People with Autism Spectrum Disorder?}}. {J Autism Dev Disord};2015 (Nov 24)
How well can neurotypical adults’ interpret mental states in people with ASD? ‘Targets’ (ASD and neurotypical) reactions to four events were video-recorded then shown to neurotypical participants whose task was to identify which event the target had experienced. In study 1 participants were more successful for neurotypical than ASD targets. In study 2, participants rated ASD targets equally expressive as neurotypical targets for three of the events, while in study 3 participants gave different verbal descriptions of the reactions of ASD and neurotypical targets. It thus seems people with ASD react differently but not less expressively to events. Because neurotypicals are ineffective in interpreting the behaviour of those with ASD, this could contribute to the social difficulties in ASD.
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30. Silva LM, Schalock M, Gabrielsen KR. {{About Face: Evaluating and Managing Tactile Impairment at the Time of Autism Diagnosis}}. {Autism Res Treat};2015;2015:612507.
Evaluation for sensory impairment is a routine part of autism diagnosis. Sensory impairment of hearing, vision, or touch results in developmental delay and must be addressed before delay can resolve. Recent studies confirm that tactile impairment is present in autism and can be effectively treated with a tactile stimulation protocol. The research suggests a change in management at the time of autism diagnosis to include evaluation and treatment of tactile impairment. Here we validate screening and management tool for tactile impairment, the Autism Touch and Self-Regulation Checklist, in 404 typical and autistic preschool children. The tool assesses tactile impairment by location and severity. Autistic children were distinguished by mixed pain and numbness on multiple areas including the face and mouth (F = 412.1 (1,402);p < .000). Oral-facial tactile impairment interferes with the tactile stimulus to orienting. We hypothesized that oral-facial tactile impairment and difficulty orienting are predictive of ASD and that severity of tactile impairment is predictive of severity of ASD. Questions evaluating oral-facial and orienting responses correctly predicted 91% of the autism group. Severity of tactile impairment correctly predicted 81% of mild versus severe ASD. Results underscore the importance of evaluating and treating tactile impairment at the time of autism diagnosis. Lien vers le texte intégral (Open Access ou abonnement)
31. Simard I, Luck D, Mottron L, Zeffiro TA, Soulieres I. {{Autistic fluid intelligence: Increased reliance on visual functional connectivity with diminished modulation of coupling by task difficulty}}. {Neuroimage Clin};2015;9:467-478.
Different test types lead to different intelligence estimates in autism, as illustrated by the fact that autistic individuals obtain higher scores on the Raven’s Progressive Matrices (RSPM) test than they do on the Wechsler IQ, in contrast to relatively similar performance on both tests in non-autistic individuals. However, the cerebral processes underlying these differences are not well understood. This study investigated whether activity in the fluid « reasoning » network, which includes frontal, parietal, temporal and occipital regions, is differently modulated by task complexity in autistic and non-autistic individuals during the RSPM. In this purpose, we used fMRI to study autistic and non-autistic participants solving the 60 RSPM problems focussing on regions and networks involved in reasoning complexity. As complexity increased, activity in the left superior occipital gyrus and the left middle occipital gyrus increased for autistic participants, whereas non-autistic participants showed increased activity in the left middle frontal gyrus and bilateral precuneus. Using psychophysiological interaction analyses (PPI), we then verified in which regions did functional connectivity increase as a function of reasoning complexity. PPI analyses revealed greater connectivity in autistic, compared to non-autistic participants, between the left inferior occipital gyrus and areas in the left superior frontal gyrus, right superior parietal lobe, right middle occipital gyrus and right inferior temporal gyrus. We also observed generally less modulation of the reasoning network as complexity increased in autistic participants. These results suggest that autistic individuals, when confronted with increasing task complexity, rely mainly on visuospatial processes when solving more complex matrices. In addition to the now well-established enhanced activity observed in visual areas in a range of tasks, these results suggest that the enhanced reliance on visual perception has a central role in autistic cognition.
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32. Sinha S. {{Reflections: Neurology and the Humanities. Autism}}. {Neurology};2015 (Sep 8);85(10):919.
33. Stepniak B, Kastner A, Poggi G, Mitjans M, Begemann M, Hartmann A, Van der Auwera S, Sananbenesi F, Krueger-Burg D, Matuszko G, Brosi C, Homuth G, Volzke H, Benseler F, Bagni C, Fischer U, Dityatev A, Grabe HJ, Rujescu D, Fischer A, Ehrenreich H. {{Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes}}. {EMBO Mol Med};2015;7(12):1565-1579.
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. Here, we report an accumulation model of 8 SNPs in these genes, associated with autistic traits in a discovery sample of male patients with schizophrenia (N = 692) and three independent replicate samples: patients with schizophrenia (N = 626), patients with other psychiatric diagnoses (N = 111) and a general population sample (N = 2005). For first mechanistic insight, we contrasted microRNA expression in peripheral blood mononuclear cells of selected extreme group subjects with high- versus low-risk constellation regarding the accumulation model. Thereby, the brain-expressed miR-181 species emerged as potential « umbrella regulator », with several seed matches across the fragile X gene family and FMR2. To conclude, normal variation in these genes contributes to the continuum of autistic phenotypes.
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34. Uchino S, Waga C. {{Novel Therapeutic Approach for Autism Spectrum Disorder: Focus on SHANK3}}. {Curr Neuropharmacol};2015 (Nov 26);13(6):786-792.
SHANK3 is a synaptic scaffolding protein and plays an important role in neuronal development. SHANK3 interacts with various synaptic molecules, including post-synaptic density-95 (PSD-95), homer and GluR1 AMPA receptor. SHANK3 gene is a causable gene of the Phelan- McDermid syndrome (also known as the 22q13.3 deletion syndrome), whose manifestation is global developmental delay and autistic behavior, especially shows severe speech and language deficit. Additionally since cumulative gene analysis in autistic subjects identified several mutations in SHANK3 gene, including deletion and duplication in a particular region, abnormality of SHANK3 gene is thought the be related with the neuropathology of autism spectrum disorder (ASD). We here review the recent findings in regard to the roles of SHANK3 in higher brain functions, molecular-biologic studies of the complex expression of Shank3 transcripts and production of SHANK3 isoforms, and behavioral studies of Shank3-mutant mice, including our recent findings, and discuss a novel therapeutic approach for ASD.
35. Wang S, Jiang M, Duchesne XM, Laugeson EA, Kennedy DP, Adolphs R, Zhao Q. {{Atypical Visual Saliency in Autism Spectrum Disorder Quantified through Model-Based Eye Tracking}}. {Neuron};2015 (Nov 4);88(3):604-616.
The social difficulties that are a hallmark of autism spectrum disorder (ASD) are thought to arise, at least in part, from atypical attention toward stimuli and their features. To investigate this hypothesis comprehensively, we characterized 700 complex natural scene images with a novel three-layered saliency model that incorporated pixel-level (e.g., contrast), object-level (e.g., shape), and semantic-level attributes (e.g., faces) on 5,551 annotated objects. Compared with matched controls, people with ASD had a stronger image center bias regardless of object distribution, reduced saliency for faces and for locations indicated by social gaze, and yet a general increase in pixel-level saliency at the expense of semantic-level saliency. These results were further corroborated by direct analysis of fixation characteristics and investigation of feature interactions. Our results for the first time quantify atypical visual attention in ASD across multiple levels and categories of objects.
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36. Woynaroski T, Watson L, Gardner E, Newsom CR, Keceli-Kaysili B, Yoder PJ. {{Early Predictors of Growth in Diversity of Key Consonants Used in Communication in Initially Preverbal Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Nov 24)
Diversity of key consonants used in communication (DKCC) is a value-added predictor of expressive language growth in initially preverbal children with autism spectrum disorder (ASD). Studying the predictors of DKCC growth in young children with ASD might inform treatment of this under-studied aspect of prelinguistic development. Eighty-seven initially preverbal preschoolers with ASD and their parents were observed at five measurement periods. In this longitudinal correlational investigation, we found that child intentional communication acts and parent linguistic responses to child leads predicted DKCC growth, after controlling for two other predictors and two background variables. As predicted, receptive vocabulary mediated the association between the value-added predictors and endpoint DKCC.
