1. Abbasy S, Shahraki F, Haghighatfard A, Qazvini MG, Rafiei ST, Noshadirad E, Farhadi M, Rezvani Asl H, Shiryazdi AA, Ghamari R, Tabrizi Z, Mehrfard R, Esmaili Kakroudi F, Azarnoosh M, Younesi F, Parsamehr N, Garaei N, Abyari S, Salehi M, Gholami M, Zolfaghari P, Bagheri SM, Pourmehrabi M, Rastegarimogaddam E, Nobakht E, Nobakht E, Partovi R. {{Neuregulin1 types mRNA level changes in autism spectrum disorder, and is associated with deficit in executive functions}}. {EBioMedicine}. 2018.
BACKGROUND: Autism spectrum disorder (ASD) is a pediatric heterogeneous psychiatric and neurodevelopmental disorder with social and communication deficits, language impairment and ritualistic or repetitive behaviors. ASD has significant genetic bases but candidate genes and molecular mechanisms of disorder are not clarified. Neuregulin1 (NRG1) gene, located in 8p12 is involved in development of central nervous system and was indicated as candidate gene in schizophrenia. METHODS: mRNA level of types I, II and III of NRG1 gene were studied in peripheral blood of 1540 ASD patients (IQ>70) and 1490 control children by quantitative Real Time PCR. Also three domains of executive functions (working memory, response inhibition and vigilance) were examined in all subjects. FINDINGS: All three types were significantly down regulated in ASD patients. Significant deficiencies in executive functions (EF) were found in ASD patients. EF deficiencies mostly were associated with down expression of mRNA level of types I and III. Also correlations were found between NRG1 expression with gender and severity of ASD symptoms. INTERPRETATIONS: Findings primarily have been suggested involvement of NRG1 in etiology of ASD. Also correlation of NRG1 mRNA level with EF deficiencies could shed lights on EF mechanisms and may suggest targeted treatments to improve particular executive functions. FUND: Young researchers and elites club funded the project due to the annual grant of special talents of Club that gave to Arvin Haghighatfard.
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2. Abdelaziz A, Kover ST, Wagner M, Naigles LR. {{The Shape Bias in Children With Autism Spectrum Disorder: Potential Sources of Individual Differences}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2685-702.
Purpose: Children with autism spectrum disorder (ASD) demonstrate many mechanisms of lexical acquisition that support language in typical development; however, 1 notable exception is the shape bias. The bases of these children’s difficulties with the shape bias are not well understood, and the current study explored potential sources of individual differences from the perspectives of both attentional and conceptual accounts of the shape bias. Method: Shape bias performance from the dataset of Potrzeba, Fein, and Naigles (2015) was analyzed, including 33 children with typical development (M = 20 months; SD = 1.6), 15 children with ASD with high verbal abilities (M = 33 months; SD = 4.6), and 14 children with ASD with low verbal abilities (M = 33 months; SD = 6.6). Lexical predictors (shape-side noun percentage from the MacArthur-Bates Communicative Development Inventory; Fenson et al., 2007) and social-pragmatic predictors (joint attention duration during play sessions) were considered as predictors of subsequent shape bias performance. Results: For children in the low verbal ASD group, initiation of joint attention (positively) and passive attention (negatively) predicted subsequent shape bias performance, controlling for initial language and developmental level. Proportion of child’s known nouns with shape-defined properties correlated negatively with shape bias performance in the high verbal ASD group but did not reach significance in regression models. Conclusions: These findings suggest that no single account sufficiently explains the observed individual differences in shape bias performance in children with ASD. Nonetheless, these findings break new ground in highlighting the role of social communicative interactions as integral to understanding specific language outcomes (i.e., the shape bias) in children with ASD, especially those with low verbal abilities, and point to new hypotheses concerning the linguistic content of these interactions. Presentation Video: https://doi.org/10.23641/asha.7299581.
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3. Arunachalam S, Luyster RJ. {{Lexical Development in Young Children With Autism Spectrum Disorder (ASD): How ASD May Affect Intake From the Input}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2659-72.
Purpose: Most children with autism spectrum disorder (ASD) have below-age lexical knowledge and lexical representation. Our goal is to examine ways in which difficulties with social communication and language processing that are often associated with ASD may constrain these children’s abilities to learn new words and to explore whether minimizing the social communication and processing demands of the learning situation can lead to successful learning. Method: In this narrative review of recent work on lexical development in ASD, we describe key findings on children’s acquisition of nouns, pronouns, and verbs and outline our research program currently in progress aimed at further elucidating these issues. Conclusion: Our review of studies that examine lexical development in children with ASD suggests that innovative intervention approaches that take into account both the social communication and processing demands of the learning situation may be particularly beneficial. Presentation Video: https://doi.org/10.23641/asha.7324013.
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4. Bou Khalil R. {{Insulin-growth-factor-1 (IGF-1): just a few steps behind the evidence in treating schizophrenia and/or autism}}. {CNS spectrums}. 2018: 1-2.
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5. Cvejic RC, Arnold SRC, Foley KR, Trollor JN. {{Neuropsychiatric profile and psychotropic medication use in adults with autism spectrum disorder: results from the Australian Longitudinal Study of Adults with Autism}}. {BJPsych open}. 2018; 4(6): 461-6.
Background: Children and adolescents with autism spectrum disorder (ASD) are a highly medicated group. Few studies have examined the neuropsychiatric profile and patterns of psychotropic medication use among adults with ASD. Aims: To describe and compare the neuropsychiatric profile and psychotropic medication use in a cohort of adults with ASD and non-autistic controls. Method: Baseline data from a survey-based, longitudinal study of adults with ASD in Australia. Participants were 188 adults with ASD and 115 controls aged 25-80 years. Results: ASD was associated with increased odds of psychotropic medication use even when controlling for the presence of any neurological or psychiatric disorder. There were no corresponding indications for 14.4% of psychotropic medications prescribed to adults with ASD. Conclusions: This study found substantial psychotropic prescribing for adults with ASD. Patterns of psychotropic medication use may reflect prescribing for behavioural indications despite limited evidence to support this practice. Declaration of interest: None.
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6. d’Albis MA, Guevara P, Guevara M, Laidi C, Boisgontier J, Sarrazin S, Duclap D, Delorme R, Bolognani F, Czech C, Bouquet C, Ly-Le Moal M, Holiga S, Amestoy A, Scheid I, Gaman A, Leboyer M, Poupon C, Mangin JF, Houenou J. {{Local structural connectivity is associated with social cognition in autism spectrum disorder}}. {Brain : a journal of neurology}. 2018.
The current theory implying local, short-range overconnectivity in autism spectrum disorder, contrasting with long-range underconnectivity, is based on heterogeneous results, on limited data involving functional connectivity studies, on heterogeneous paediatric populations and non-specific methodologies. In this work, we studied short-distance structural connectivity in a homogeneous population of males with high-functioning autism spectrum disorder and used a novel methodology specifically suited for assessing U-shaped short-distance tracts, including a recently developed tractography-based atlas of the superficial white matter fibres. We acquired diffusion-weighted MRI for 58 males (27 subjects with high-functioning autism spectrum disorder and 31 control subjects) and extracted the mean generalized fractional anisotropy of 63 short-distance tracts. Neuropsychological evaluation included Wechsler Adult Intelligence Scale IV (WAIS-IV), Communication Checklist-Adult, Empathy Quotient, Social Responsiveness Scale and Behaviour Rating Inventory of Executive Function-Adult (BRIEF-A). In contradiction with the models of short-range over-connectivity in autism spectrum disorder, we found that patients with autism spectrum disorder had a significantly decreased anatomical connectivity in a component comprising 13 short tracts compared to controls. Specific short-tract atypicalities in temporal lobe and insula were significantly associated with clinical manifestations of autism spectrum disorder such as social awareness, language structure, pragmatic skills and empathy, emphasizing their importance in social dysfunction. Short-range decreased anatomical connectivity may thus be an important substrate of social deficits in autism spectrum disorder, in contrast with current models.
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7. Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. {{Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons}}. {Stem cell reports}. 2018; 11(5): 1211-25.
Autism spectrum disorder (ASD) is phenotypically and genetically heterogeneous. We present a CRISPR gene editing strategy to insert a protein tag and premature termination sites creating an induced pluripotent stem cell (iPSC) knockout resource for functional studies of ten ASD-relevant genes (AFF2/FMR2, ANOS1, ASTN2, ATRX, CACNA1C, CHD8, DLGAP2, KCNQ2, SCN2A, TENM1). Neurogenin 2 (NGN2)-directed induction of iPSCs allowed production of excitatory neurons, and mutant proteins were not detectable. RNA sequencing revealed convergence of several neuronal networks. Using both patch-clamp and multi-electrode array approaches, the electrophysiological deficits measured were distinct for different mutations. However, they culminated in a consistent reduction in synaptic activity, including reduced spontaneous excitatory postsynaptic current frequencies in AFF2/FMR2-, ASTN2-, ATRX-, KCNQ2-, and SCN2A-null neurons. Despite ASD susceptibility genes belonging to different gene ontologies, isogenic stem cell resources can reveal common functional phenotypes, such as reduced functional connectivity.
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8. Ellis Weismer S, Kaushanskaya M, Larson C, Mathee J, Bolt D. {{Executive Function Skills in School-Age Children With Autism Spectrum Disorder: Association With Language Abilities}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2641-58.
Purpose: This article reviews research on executive function (EF) skills in children with autism spectrum disorder (ASD) and the relation between EF and language abilities. The current study assessed EF using nonverbal tasks of inhibition, shifting, and updating of working memory (WM) in school-age children with ASD. It also evaluated the association between children’s receptive and expressive language abilities and EF performance. Method: In this study, we sought to address variables that have contributed to inconsistencies in this area of research-including task issues, group comparisons, and participant heterogeneity. EF abilities in children with ASD (n = 48) were compared to typically developing controls (n = 71) matched on age, as well as when statistically controlling for group differences in nonverbal cognition, socioeconomic status, and social communication abilities. Six nonverbal EF tasks were administered-2 each to evaluate inhibition, shifting, and WM. Language abilities were assessed via a standardized language measure. Language-EF associations were examined for the ASD group as a whole and subdivided by language status. Results: Children with ASD exhibited significant deficits in all components of EF compared to age-mates and showed particular difficulty with shifting after accounting for group differences in nonverbal cognition. Controlling for social communication-a core deficit in ASD-eliminated group differences in EF performance. A modest association was observed between language (especially comprehension) and EF skills, with some evidence of different patterns between children on the autism spectrum with and without language impairment. Conclusions: There is a need for future research to examine the direction of influence between EF and language. It would be beneficial for EF interventions with children with ASD to consider language outcomes and, conversely, to examine whether specific language training facilitates aspects of executive control in children on the autism spectrum. Presentation Video: https://doi.org/10.23641/asha.7298144.
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9. Herringshaw AJ, Kumar SL, Rody KN, Kana RK. {{Neural Correlates of Social Perception in Children with Autism: Local versus Global Preferences}}. {Neuroscience}. 2018.
The Weak Central Coherence account of autism spectrum disorders posits that individuals with ASD utilize a detail-oriented information processing bias. While this local bias is helpful in visual search tasks, ASD individuals falter in social cognition tasks where coherence is advantageous. The present study examined the neural correlates of Weak Central Coherence in ASD during visual and social processing. Fifteen ASD and sixteen typically developing children/adolescents completed a social/visual information processing task in an fMRI scanner. The stimuli consisted of human characters, composed of geometrical shapes, displaying different emotions. In the locally oriented Shape condition, participants indicated whether a given shape was present in a figure. In the Emotion condition, participants identified the emotion conveyed by the character in the figure at the global level. Whole-brain within- and between-group activation and seed-to-voxel functional connectivity analyses were conducted in SPM12 and the CONN toolbox. The ASD group was significantly faster in shape identification, but less accurate in emotion identification. The TD group showed significantly increased areas of activity over the ASD group in the Shape task in regions associated with executive control, such as the medial prefrontal cortex and middle frontal gyrus, suggesting increased interference from the global/social information. During the Emotion condition, the ASD group showed decreased connectivity between frontal and posterior regions and between body perception and motor networks, suggesting a possible difference in mirroring. The findings suggest that social cognitive factors, not visual processing biases, underlie the observed behavioral differences.
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10. Hooper JJ, Sutherland CAM, Ewing L, Langdon R, Caruana N, Connaughton E, Williams N, Greenwell-Barnden J, Rhodes G. {{Should I trust you? Autistic traits predict reduced appearance-based trust decisions}}. {British journal of psychology (London, England : 1953)}. 2018.
Facial impressions of trustworthiness guide social decisions in the general population, as shown by financial lending in economic Trust Games. As an exception, autistic boys fail to use facial impressions to guide trust decisions, despite forming typical facial trustworthiness impressions (Autism, 19, 2015a, 1002). Here, we tested whether this dissociation between forming and using facial impressions of trustworthiness extends to neurotypical men with high levels of autistic traits. Forty-six Caucasian men completed a multi-turn Trust Game, a facial trustworthiness impressions task, the Autism-Spectrum Quotient, and two Theory of Mind tasks. As hypothesized, participants’ levels of autistic traits had no observed effect on the impressions formed, but negatively predicted the use of those impressions in trust decisions. Thus, the dissociation between forming and using facial impressions of trustworthiness extends to the broader autism phenotype. More broadly, our results identify autistic traits as an important source of individual variation in the use of facial impressions to guide behaviour. Interestingly, failure to use these impressions could potentially represent rational behaviour, given their limited validity.
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11. Iverson JM. {{Early Motor and Communicative Development in Infants With an Older Sibling With Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2673-84.
Purpose: A recent approach to identifying early markers of risk for autism spectrum disorder (ASD) has been to study infants who have an older sibling with ASD. These infants are at heightened risk (HR) for ASD and for other developmental difficulties, and even those who do not receive an eventual ASD diagnosis manifest a high degree of variability in trajectories of development. The primary goal of this review is to summarize findings from research on early motor and communicative development in these HR infants. Method: This review focuses on 2 lines of inquiry. The first assesses whether delays and atypicalities in early motor abilities and in the development of early communication provide an index of eventual ASD diagnosis. The second asks whether such delays also influence infants’ interactions with objects and people in ways that exert far-reaching, cascading effects on development. Results: HR infants who do and who do not receive a diagnosis of ASD vary widely in motor and communicative development. In addition, variation in infant motor and communicative development appears to have cascading effects on development, both on the emergence of behavior in other domains and on the broader learning environment. Conclusions: Advances in communicative and language development are supported by advances in motor skill. When these advances are slowed and/or when new skills are not consolidated and remain challenging for the infant, the enhanced potential for exploration afforded by new abilities and the concomitant increase in opportunities for learning are reduced. Improving our understanding of communicative delays of the sort observed in ASD and developing effective intervention methods requires going beyond the individual to consider the constant, complex interplay between developing communicators and their environments. Presentation Video: https://doi.org/10.23641/asha.7299308.
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12. Kasari C, Sturm A, Shih W. {{SMARTer Approach to Personalizing Intervention for Children With Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2629-40.
Purpose: This review article introduces research methods for personalization of intervention. Our goals are to review evidence-based practices for improving social communication impairment in children with autism spectrum disorder generally and then how these practices can be systematized in ways that personalize intervention, especially for children who respond slowly to an initial evidence-based practice. Method: The narrative reflects on the current status of modular and targeted interventions on social communication outcomes in the field of autism research. Questions are introduced regarding personalization of interventions that can be addressed through research methods. These research methods include adaptive treatment designs and the Sequential Multiple Assignment Randomized Trial. Examples of empirical studies using research designs are presented to answer questions of personalization. Conclusion: Bridging the gap between research studies and clinical practice can be advanced by research that attempts to answer questions pertinent to the broad heterogeneity in children with autism spectrum disorder, their response to interventions, and the fact that a single intervention is not effective for all children. Presentation Video: https://doi.org/10.23641/asha.7298021.
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13. Kawase H, Ago Y, Naito M, Higuchi M, Hara Y, Hasebe S, Tsukada S, Kasai A, Nakazawa T, Mishina T, Kouji H, Takuma K, Hashimoto H. {{mS-11, a mimetic of the mSin3-binding helix in NRSF, ameliorates social interaction deficits in a prenatal valproic acid-induced autism mouse model}}. {Pharmacology, biochemistry, and behavior}. 2018; 176: 1-5.
Growing evidence suggests pivotal roles for epigenetic mechanisms in both animal models of and individuals with autism spectrum disorders (ASD). Neuron-restrictive silencer factor (NRSF) binds to neuron-restrictive silencing elements in neuronal genes and recruits co-repressors, such as mSin3, to epigenetically inhibit neuronal gene expression. Because dysregulation of NRSF is related to ASD, here we examined the effects of mS-11, a chemically optimized mimetic of the mSin3-binding helix in NRSF, on the behavioral and morphological abnormalities found in a mouse model of valproic acid (VPA)-induced ASD. Chronic treatment with mS-11 improved prenatal VPA-induced deficits in social interaction. Additionally, we found that NRSF mRNA expression was greater in the somatosensory cortex of VPA-exposed mice than of controls. Agreeing with these behavioral findings, mice that were prenatally exposed to VPA showed lower dendritic spine density in the somatosensory cortex, which was reversed by chronic treatment with mS-11. These findings suggest that mS-11 has the potential for improving ASD-related symptoms through inhibition of mSin3-NRSF binding.
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14. Kenny L, Cribb SJ, Pellicano E. {{Childhood Executive Function Predicts Later Autistic Features and Adaptive Behavior in Young Autistic People: a 12-Year Prospective Study}}. {Journal of abnormal child psychology}. 2018.
Longitudinal studies of autistic people show that the behavioral features of autism generally endure into adulthood. Yet the prognostic indicators remain far from certain, especially for cognitively able individuals. Here, we test the predictive power of specific cognitive skills, namely theory of mind and executive function, measured in childhood, on young people’s autistic features and adaptive behavior 12 years later. Twenty-eight young autistic people (2 female) were seen twice within the space of 12 years. At Time 1 (M = 5 years; 7 months, SD = 11 months), participants were assessed on components of executive function (planning, inhibition and cognitive flexibility) and theory of mind (false-belief understanding). At Time 2, 12 years later (M = 17 years 10 months, SD = 1 year; 2 months), we measured participants’ autistic features and adaptive behavior. Only Time 1 executive function skills predicted significant variance in autistic adolescents’ autistic features, over and above variance attributable to early age, intellectual ability and theory of mind skills. Furthermore, early EF skills, in addition to early verbal ability and nonverbal ability, predicted significant variance in young people’s adaptive behavior at the 12-year follow-up. These long-term longitudinal findings clearly demonstrate that executive function measured in early childhood has prognostic significance in a sample of young autistic people approaching emerging adulthood and underscore their importance as a key target for early intervention and support.
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15. Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH. {{PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2018.
Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affected child with ID and periventricular nodular heterotopia. We identified an inherited heterozygous nonsense mutation in PSMD12 (NM_002816: c.367C>T: p.R123X) in the multiplex family and a de novo nonsense mutation in the same gene (NM_002816: c.601C>T: p.R201X) in the simplex family. PSMD12 encodes a non-ATPase regulatory subunit of the 26S proteasome. We confirm the association of PSMD12 with ID, present the first cases of inherited PSMD12 mutation, and demonstrate the heterogeneity of phenotypes associated with PSMD12 mutations.
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16. Martin GE, Bush L, Klusek J, Patel S, Losh M. {{A Multimethod Analysis of Pragmatic Skills in Children and Adolescents With Fragile X Syndrome, Autism Spectrum Disorder, and Down Syndrome}}. {Journal of speech, language, and hearing research : JSLHR}. 2018: 1-15.
Purpose: Pragmatic language skills are often impaired above and beyond general language delays in individuals with neurodevelopmental disabilities. This study used a multimethod approach to language sample analysis to characterize syndrome- and sex-specific profiles across different neurodevelopmental disabilities and to examine the congruency of 2 analysis techniques. Method: Pragmatic skills of young males and females with fragile X syndrome with autism spectrum disorder (FXS-ASD, n = 61) and without autism spectrum disorder (FXS-O, n = 40), Down syndrome (DS, n = 42), and typical development (TD, n = 37) and males with idiopathic autism spectrum disorder only (ASD-O, n = 29) were compared using variables obtained from a detailed hand-coding system contrasted with similar variables obtained automatically from the language analysis program Systematic Analysis of Language Transcripts (SALT). Results: Noncontingent language and perseveration were characteristic of the pragmatic profiles of boys and girls with FXS-ASD and boys with ASD-O. Boys with ASD-O also initiated turns less often and were more nonresponsive than other groups, and girls with FXS-ASD were more nonresponsive than their male counterparts. Hand-coding and SALT methods were largely convergent with some exceptions. Conclusion: Results suggest both similarities and differences in the pragmatic profiles observed across different neurodevelopmental disabilities, including idiopathic and FXS-associated cases of ASD, as well as an important sex difference in FXS-ASD. These findings and congruency between the 2 language sample analysis techniques together have important implications for assessment and intervention efforts.
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17. Normandin PA, Coffey KA, Benotti SA, Doherty DP. {{Autism Emergency Care Success: Plan, Collaborate, and Accommodate}}. {Journal of emergency nursing: JEN : official publication of the Emergency Department Nurses Association}. 2018; 44(6): 662-4.
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18. Ohta H, Tanji K, Hashimoto RI, Kato N. {{[What is the Core Symptom and Neural Mechanism of Asperger Syndrome? From Our Ten Years of Clinical Observation of Adults with Autism Spectrum Disorder]}}. {Brain and nerve = Shinkei kenkyu no shinpo}. 2018; 70(11): 1225-36.
In 2008, we launched a new outpatient clinic and day care service designed exclusively for adults with autism spectrum disorder (ASD). Since then, more than 6000 people visited our facility. We have also launched the Medical Institute for Developmental Disabilities Research (MIDDR) at Showa University, where neuroimaging studies with a 3.0 Tesla MRI scanner and rehabilitation studies intended to support people with ASD for job seeking were conducted for the past five years. As our subjects were found to have normal or high intelligence, we present here our research studies on Asperger syndrome patients with the focus on their resting-state functional connectivity network. We also review hypotheses of brain functioning in Asperger syndrome.
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19. Schonewolf-Greulich B, Bisgaard AM, Duno M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brondum-Nielsen K, Larsen MJ, Sorensen KP, Christodoulou J, Fagerberg CR, Tumer Z. {{Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements}}. {Clinical genetics}. 2018.
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature only six male patients have been reported with MECP2 mosaicism. NGS methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing, however mosaics can still be difficult to detect. We present clinical and molecular findings in two males mosaic for a pathogenic MECP2 variant. Both have been reexamined using deep sequencing of DNA isolated from four different cell tissues (blood, muscle, fibroblasts and oral mucosa). Deep sequencing of the different tissues revealed that the variants were present in all tissues. In one patient the molecular diagnosis could only be established by reexamination after a normal whole exome sequencing, and the other case is an example of reverse genetic diagnostics. Rett syndrome should be considered in males with neurodevelopmental delay and stereotypical hand movements. Subsequent to clinical diagnosis males should be investigated with NGS based technologies of MECP2 with high read depth and a low threshold for variant calls. If the initial analysis on full blood derived DNA fails to confirm the suspicion, we recommend repeating the analysis on another tissue, preferentially fibroblasts to increase the diagnostic yield.
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20. Teti M, Cheak-Zamora N, Bauerband LA, Maurer-Batjer A. {{A Qualitative Comparison of Caregiver and Youth with Autism Perceptions of Sexuality and Relationship Experiences}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2018.
OBJECTIVES: Caregivers play a critical role in educating their youth with autism about sex and relationships; yet, we know little about caregivers’ ability to deliver this support, youth’s perspectives, or the congruence of youth and caregiver experiences. To help fill this gap, we explored and compared the perspectives of caregivers and their youth with autism spectrum disorder about and interactions regarding sex and relationships. METHODS: We conducted qualitative one-on-one interviews with youth (n = 27) and focus groups with their caregivers (n = 29). A semi-structured guide elicited information from both the groups about the youth’s physical, emotional, and social transition to adulthood. Thematic analysis, including coding and analytical memos, identified key themes within and across youth and caregiver discussions about sex and relationships. RESULTS: Thematic analysis of interviews revealed overarching themes about companionship, interest and experience, and access to sexual information across both the groups. Themes included different nuances among caregivers and youth, however. Caregivers expressed more future-oriented concerns than youth and overestimated their knowledge of their youth’s interest and experience with sex and comfort confiding in caregivers. Youth described relationships and information sources of which their caregivers were unaware. CONCLUSION: Interventions for both caregivers and youth can support healthy and safe intimate relationships among youth with autism spectrum disorder. By comparing youth and caregiver dialogues, this study adds to what we know, and it can be used to develop a blueprint for improving communication patterns that not only include but also extend well beyond sexual health.
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21. Tyagi V, Juneja M, Jain R. {{Sleep Problems and Their Correlates in Children with Autism Spectrum Disorder: An Indian Study}}. {Journal of autism and developmental disorders}. 2018.
Sleep problems were studied in both typically developing (TD) children and those with autism spectrum disorder (ASD) using the Sleep Disturbance Scale for Children. Factors associated with these problems were also studied in children with ASD. Seventy-three children with ASD and their age and sex matched TD controls in age group of 3-12 years were enrolled in the study. Higher sleep problems were found in children with ASD than TD children. Most common sleep problem reported in children with ASD was Sleep Wake Transition Disorders, followed by Disorder of Initiation and Maintenance; while in TD controls, it was Sleep Breathing Disorders. Apart from severity of Autism; hyperactivity, sensory issues and poor motor skills were significantly associated with sleep problems, which may be important targets for intervention in children with sleep problems.
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22. Wetherby AM, Woods J, Guthrie W, Delehanty A, Brown JA, Morgan L, Holland RD, Schatschneider C, Lord C. {{Changing Developmental Trajectories of Toddlers With Autism Spectrum Disorder: Strategies for Bridging Research to Community Practice}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(11): 2615-28.
Purpose: The need for community-viable, evidence-based intervention strategies for toddlers with autism spectrum disorder (ASD) is a national priority. The purpose of this research forum article is to identify gaps in intervention research and needs in community practice for toddlers with ASD, incorporate published findings from a randomized controlled trial (RCT) of the Early Social Interaction (ESI) model (Wetherby et al., 2014) to illustrate community-based intervention, report new findings on child active engagement from the ESI RCT, and offer solutions to bridge the research-to-community practice gap. Method: Research findings were reviewed to identify gaps in the evidence base for toddlers with ASD. Published and new findings from the multisite ESI RCT compared the effects of two different ESI conditions for 82 toddlers with ASD to teach parents how to support active engagement in natural environments. Results: The RCT of the ESI model was the only parent-implemented intervention that reported differential treatment effects on standardized measures of child outcomes, including social communication, developmental level, and adaptive behavior. A new measure of active engagement in the natural environment was found to be sensitive to change in 3 months for young toddlers with ASD and to predict outcomes on the standardized measures of child outcomes. Strategies for utilizing the Autism Navigator collection of web-based courses and tools using extensive video footage for families and professional development are offered for scaling up in community settings to change developmental trajectories of toddlers with ASD. Conclusions: Current health care and education systems are challenged to provide intervention of adequate intensity for toddlers with ASD. The use of innovative technology can increase acceleration of access to evidence-based early intervention for toddlers with ASD that addresses health disparities, enables immediate response as soon as ASD is suspected, and rapidly bridges the research-to-practice gap.
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23. Zou M, Sun C, Liang S, Sun Y, Li D, Li L, Fan L, Wu L, Xia W. {{Fisher discriminant analysis for classification of autism spectrum disorders based on folate-related metabolism markers}}. {The Journal of nutritional biochemistry}. 2018; 64: 25-31.
Autism spectrum disorders (ASDs) are neurodevelopmental disorders with an increasing prevalence but lack reliable biomarkers for early diagnosis. The present study investigated 13 serological metabolites and 2 genetic variants related to folate metabolism in a total of 89 ASD cases and 89 matched controls. Fisher discriminant analysis was used to establish the classification model to recognize ASD cases and controls. Ten metabolites were significantly different between the groups, of which six metabolites were used as predictors to determine the discriminant prediction model: vitamin B12, 5-methylene-tetrahydrofolate, methonine, the ratio of S-adenosylmethionine/S-adenosylhomocysteine, methionine synthase and transcobalamin II. The model had statistical significance (lambda=0.520, chi(2)=113.103, df=6, P<.001) and correctly identified 84.3% of ASD and normal cohorts. The area under the receiver operating characteristic curve was 0.913, with a sensitivity of 86.5% and a specificity of 85.4%. Overall, the results indicated that folate-related metabolism contributed to predisposition of ASD and the combined detection of folate-related metabolism biomarkers could be effective in distinguishing ASD from healthy controls, and provide new insights for the early diagnosis of ASD in the future. Lien vers le texte intégral (Open Access ou abonnement)
