1. Ben Said M, Robel L, Golse B, Jais JP. {{Security Policy and Infrastructure in the Context of a Multi-Centeric Information System Dedicated to Autism Spectrum Disorder}}. {Stud Health Technol Inform};2017;235:328-332.
Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in their early age. The diagnosis of ASD relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology and ophthalmology. In order to support clinicians, researchers and public health decision makers, we designed an information system dedicated to ASD, called TEDIS. TEDIS was designed to manage systematic, exhaustive and continuous multi-centric patient data collection via secured Internet connections. In this paper, we present the security policy and security infrastructure we developed to protect ASD’ patients’ clinical data and patients’ privacy. We tested our system on 359 ASD patient records in a local secured intranet environment and showed that the security system is functional, with a consistent, transparent and safe encrypting-decrypting behavior. It is ready for deployment in the nine ASD expert assessment centers in the Ile de France district.
2. Caruana N, Stieglitz Ham H, Brock J, Woolgar A, Kloth N, Palermo R, McArthur G. {{Joint attention difficulties in autistic adults: An interactive eye-tracking study}}. {Autism};2017 (Apr 01):1362361316676204.
Joint attention – the ability to coordinate attention with a social partner – is critical for social communication, learning and the regulation of interpersonal relationships. Infants and young children with autism demonstrate impairments in both initiating and responding to joint attention bids in naturalistic settings. However, little is known about joint attention abilities in adults with autism. Here, we tested 17 autistic adults and 17 age- and nonverbal intelligence quotient-matched controls using an interactive eye-tracking paradigm in which participants initiated and responded to joint attention bids with an on-screen avatar. Compared to control participants, autistic adults completed fewer trials successfully. They were also slower to respond to joint attention bids in the first block of testing but performed as well as controls in the second block. There were no group differences in responding to spatial cues on a non-social task with similar attention and oculomotor demands. These experimental results were mirrored in the subjective reports given by participants, with some commenting that they initially found it challenging to communicate using eye gaze, but were able to develop strategies that allowed them to achieve joint attention. Our study indicates that for many autistic individuals, subtle difficulties using eye-gaze information persist well into adulthood.
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3. Chaste P, Roeder K, Devlin B. {{The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability}}. {Annu Rev Genomics Hum Genet};2017 (Apr 19)
The etiology of autism spectrum disorder (ASD) is complex, involving both genetic and environmental contributions to individual and population-level liability. Early researchers hypothesized that ASD arises from polygenic inheritance, but later results, such as the identification of mutations in certain genes that are responsible for syndromes associated with ASD, led others to propose that de novo mutations of major effect would account for most cases. This yin and yang of monogenic causes and polygenic inheritance continues to this day. The development of genome-wide genotyping and sequencing techniques has resulted in remarkable advances in our understanding of the genetic architecture of risk for ASD. The combined research findings provide solid evidence that ASD is a complex polygenic disorder. Rare de novo and inherited variations act within the context of a common-variant genetic load, and this load accounts for the largest portion of ASD liability. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 18 is August 31, 2017. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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4. Chenausky K, Kernbach J, Norton A, Schlaug G. {{White Matter Integrity and Treatment-Based Change in Speech Performance in Minimally Verbal Children with Autism Spectrum Disorder}}. {Front Hum Neurosci};2017;11:175.
We investigated the relationship between imaging variables for two language/speech-motor tracts and speech fluency variables in 10 minimally verbal (MV) children with autism. Specifically, we tested whether measures of white matter integrity-fractional anisotropy (FA) of the arcuate fasciculus (AF) and frontal aslant tract (FAT)-were related to change in percent syllable-initial consonants correct, percent items responded to, and percent syllable insertion errors (from best baseline to post 25 treatment sessions). Twenty-three MV children with autism spectrum disorder (ASD) received Auditory-Motor Mapping Training (AMMT), an intonation-based treatment to improve fluency in spoken output, and we report on seven who received a matched control treatment. Ten of the AMMT participants were able to undergo a magnetic resonance imaging study at baseline; their performance on baseline speech production measures is compared to that of the other two groups. No baseline differences were found between groups. A canonical correlation analysis (CCA) relating FA values for left- and right-hemisphere AF and FAT to speech production measures showed that FA of the left AF and right FAT were the largest contributors to the synthetic independent imaging-related variable. Change in percent syllable-initial consonants correct and percent syllable-insertion errors were the largest contributors to the synthetic dependent fluency-related variable. Regression analyses showed that FA values in left AF significantly predicted change in percent syllable-initial consonants correct, no FA variables significantly predicted change in percent items responded to, and FA of right FAT significantly predicted change in percent syllable-insertion errors. Results are consistent with previously identified roles for the AF in mediating bidirectional mapping between articulation and acoustics, and the FAT in its relationship to speech initiation and fluency. They further suggest a division of labor between the hemispheres, implicating the left hemisphere in accuracy of speech production and the right hemisphere in fluency in this population. Changes in response rate are interpreted as stemming from factors other than the integrity of these two fiber tracts. This study is the first to document the existence of a subgroup of MV children who experience increases in syllable- insertion errors as their speech develops in response to therapy.
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5. Fitzpatrick P, Romero V, Amaral JL, Duncan A, Barnard H, Richardson MJ, Schmidt RC. {{Social Motor Synchronization: Insights for Understanding Social Behavior in Autism}}. {J Autism Dev Disord};2017 (Apr 19)
Impairments in social interaction and communication are critical features of ASD but the underlying processes are poorly understood. An under-explored area is the social motor synchronization that happens when we coordinate our bodies with others. Here, we explored the relationships between dynamical measures of social motor synchronization and assessments of ASD traits. We found (a) spontaneous social motor synchronization was associated with responding to joint attention, cooperation, and theory of mind while intentional social motor synchronization was associated with initiating joint attention and theory of mind; and (b) social motor synchronization was associated with ASD severity but not fully explained by motor problems. Findings suggest that objective measures of social motor synchronization may provide insights into understanding ASD traits.
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6. He Q, Ge W. {{The tandem Agenet domain of fragile X mental retardation protein interacts with FUS}}. {Sci Rep};2017 (Apr 19);7(1):962.
The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain « Royal family ». Several groups have reported that the TAD binds with methylated histones and plays a role in DNA damage responses. FMRP is a RNA-binding protein predominantly resident in cytoplasm. Therefore, in this study, we identified DDX5, FUS, EWSR1 and LSM14A as TAD-interacting proteins sensitive to F32L and/or Y96L mutation by pull-down assays and mass spectrometry. We also showed that the interaction is potentially mediated by RGG/RG motifs. Furthermore, when FMRP was knocked-down, translocation of exogenously expressed wild-type FUS and disease-related mutant R514G was observed. This study may provide a novel insight into FMRP involvement in the intracellular localization of FUS and pathology of FUS-related amyotrophic lateral sclerosis.
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7. Howard PL, Liversedge SP, Benson V. {{Investigating the Use of World Knowledge During On-line Comprehension in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Apr 21)
The on-line use of world knowledge during reading was examined in adults with autism spectrum disorder (ASD). Both ASD and typically developed adults read sentences that included plausible, implausible and anomalous thematic relations, as their eye movements were monitored. No group differences in the speed of detection of the anomalous violations were found, but the ASD group showed a delay in detection of implausible thematic relations. These findings suggest that there are subtle differences in the speed of world knowledge processing during reading in ASD.
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8. Kang JY, Chadchankar J, Vien TN, Mighdoll MI, Hyde TM, Mather RJ, Deeb TZ, Pangalos MN, Brandon NJ, Dunlop J, Moss SJ. {{Deficits in the activity of presynaptic gamma-aminobutyric acid type B receptors contribute to altered neuronal excitability in fragile X syndrome}}. {J Biol Chem};2017 (Apr 21);292(16):6621-6632.
The behavioral and anatomical deficits seen in fragile X syndrome (FXS) are widely believed to result from imbalances in the relative strengths of excitatory and inhibitory neurotransmission. Although modified neuronal excitability is thought to be of significance, the contribution that alterations in GABAergic inhibition play in the pathophysiology of FXS are ill defined. Slow sustained neuronal inhibition is mediated by gamma-aminobutyric acid type B (GABAB) receptors, which are heterodimeric G-protein-coupled receptors constructed from R1a and R2 or R1b and R2 subunits. Via the activation of Gi/o, they limit cAMP accumulation, diminish neurotransmitter release, and induce neuronal hyperpolarization. Here we reveal that selective deficits in R1a subunit expression are seen in Fmr1 knock-out mice (KO) mice, a widely used animal model of FXS, but the levels of the respective mRNAs were unaffected. Similar trends of R1a expression were seen in a subset of FXS patients. GABAB receptors (GABABRs) exert powerful pre- and postsynaptic inhibitory effects on neurotransmission. R1a-containing GABABRs are believed to mediate presynaptic inhibition in principal neurons. In accordance with this result, deficits in the ability of GABABRs to suppress glutamate release were seen in Fmr1-KO mice. In contrast, the ability of GABABRs to suppress GABA release and induce postsynaptic hyperpolarization was unaffected. Significantly, this deficit contributes to the pathophysiology of FXS as the GABABR agonist (R)-baclofen rescued the imbalances between excitatory and inhibitory neurotransmission evident in Fmr1-KO mice. Collectively, our results provided evidence that selective deficits in the activity of presynaptic GABABRs contribute to the pathophysiology of FXS.
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9. Khanlou N, Haque N, Mustafa N, Vazquez LM, Mantini A, Weiss J. {{Access Barriers to Services by Immigrant Mothers of Children with Autism in Canada}}. {Int J Ment Health Addict};2017;15(2):239-259.
Equal access for autism services remains suboptimal for diverse groups. In Canada, little is known about the barriers immigrant mothers face accessing services and support for their children with developmental disabilities. In this qualitative study, 21 immigrant mothers of children with Autism, from a diverse ethno cultural background, were interviewed in Toronto, Canada. We apply House’s (1981) four domains of social support to analyze findings. Structural support challenges, such as delays in diagnosis, fragmented and dispersed services were common, followed by instrumental challenges due to loss of social ties and stigma. Lack of expected support from partners, and negative perceptions of services, were identified as emotional and perceptive challenges. Focused attention is required to address inequalities within the context of current access pathways for autism.
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10. Lundqvist LO, Lindner H. {{Is the Autism-Spectrum Quotient a Valid Measure of Traits Associated with the Autism Spectrum? A Rasch Validation in Adults with and Without Autism Spectrum Disorders}}. {J Autism Dev Disord};2017 (Apr 19)
The Autism-Spectrum Quotient (AQ) is among the most widely used scales assessing autistic traits in the general population. However, some aspects of the AQ are questionable. To test its scale properties, the AQ was translated into Swedish, and data were collected from 349 adults, 130 with autism spectrum disorder (ASD) and 219 without ASD, and analysed with Rasch. Several scale properties of the AQ were satisfactory but it did not meet the criterion of a unidimensional measure of autistic traits. The Rasch analysis showed that the 50-item AQ could be reduced to a 12-item subset with little loss of explanatory power, with the potential to efficiently measure the degree to which adults with and without ASD show autistic traits.
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11. Mitelman SA, Bralet MC, Mehmet Haznedar M, Hollander E, Shihabuddin L, Hazlett EA, Buchsbaum MS. {{Positron emission tomography assessment of cerebral glucose metabolic rates in autism spectrum disorder and schizophrenia}}. {Brain Imaging Behav};2017 (Apr 19)
Several models have been proposed to account for observed overlaps in clinical features and genetic predisposition between schizophrenia and autism spectrum disorder. This study assessed similarities and differences in topological patterns and vectors of glucose metabolism in both disorders in reference to these models. Co-registered 18fluorodeoxyglucose PET and MRI scans were obtained in 41 schizophrenia, 25 ASD, and 55 healthy control subjects. AFNI was used to map cortical and subcortical regions of interest. Metabolic rates were compared between three diagnostic groups using univariate and multivariate repeated-measures ANOVA. Compared to controls, metabolic rates in schizophrenia subjects were decreased in the frontal lobe, anterior cingulate, superior temporal gyrus, amygdala and medial thalamic nuclei; rates were increased in the occipital cortex, hippocampus, basal ganglia and lateral thalamic nuclei. In ASD subjects metabolic rates were decreased in the parietal lobe, frontal premotor and eye-fields areas, and amygdala; rates were increased in the posterior cingulate, occipital cortex, hippocampus and basal ganglia. In relation to controls, subjects with ASD and schizophrenia showed opposite changes in metabolic rates in the primary motor and somatosensory cortex, anterior cingulate and hypothalamus; similar changes were found in prefrontal and occipital cortices, inferior parietal lobule, amygdala, hippocampus, and basal ganglia. Schizophrenia and ASD appear to be associated with a similar pattern of metabolic abnormalities in the social brain. Divergent maladaptive trade-offs, as postulated by the diametrical hypothesis of their evolutionary relationship, may involve a more circumscribed set of anterior cingulate, motor and somatosensory regions and the specific cognitive functions they subserve.
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12. Parsons L, Cordier R, Munro N, Joosten A, Speyer R. {{A systematic review of pragmatic language interventions for children with autism spectrum disorder}}. {PLoS One};2017;12(4):e0172242.
There is a need for evidence based interventions for children with autism spectrum disorder (ASD) to limit the life-long, psychosocial impact of pragmatic language impairments. This systematic review identified 22 studies reporting on 20 pragmatic language interventions for children with ASD aged 0-18 years. The characteristics of each study, components of the interventions, and the methodological quality of each study were reviewed. Meta-analysis was conducted to assess the effectiveness of 15 interventions. Results revealed some promising approaches, indicating that active inclusion of the child and parent in the intervention was a significant mediator of intervention effect. Participant age, therapy setting or modality were not significant mediators between the interventions and measures of pragmatic language. The long-term effects of these interventions and the generalisation of learning to new contexts is largely unknown. Implications for clinical practice and directions for future research are discussed.
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13. Smith MG, Royer J, Mann J, McDermott S, Valdez R. {{Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy}}. {Orphanet J Rare Dis};2017 (Apr 21);12(1):76.
BACKGROUND: Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrative data file to assess the number of cases of two rare conditions, fragile X syndrome (FXS) and muscular dystrophy (MD) in a population. METHODS: Two methods of data collection were used to collect information from five counties comprising two standard metropolitan statistical areas of South Carolina. The passive system relied mostly on health claims data using ICD-9 CM diagnostic codes. The active system relied on a nurse abstracting records from a list of all licensed physicians with specialties in neurology, orthopedics, and genetics. RESULTS: There were 141 FXS cases and 348 MD cases that met the case definitions using active surveillance. Additional cases were found for both conditions but they were determined to not be true cases. After linking the actively collected MD and FXS cases to passive datasets, we found that the estimated total numbers of cases were similar to using capture-recapture analysis; the positive predictive values for cases identified in the passive system were 56.6% for MD and 75.7% for FXS. CONCLUSIONS: Applying capture-recapture methods to passively collected surveillance data for rare health conditions produced an estimate of the number of true cases that was similar to that obtained through active data collection.
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14. Torjesen I. {{Antidepressants in pregnancy are not associated with autism risk, new study finds}}. {BMJ};2017 (Apr 18);357:j1923.
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15. Unwin LM, Bruz I, Maybery MT, Reynolds V, Ciccone N, Dissanayake C, Hickey M, Whitehouse AJO. {{Acoustic Properties of Cries in 12-Month Old Infants at High-Risk of Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Apr 19)
There is preliminary evidence that infant siblings of children with Autism Spectrum Disorder (ASD) have an atypical pattern of cry, characterized by higher fundamental frequency and increased dysphonation. This prospective study collected multiple cry samples of 12-month old siblings of children with ASD (n = 22, ‘high-risk’ group) and 12-month olds with no family history of ASD (n = 27, ‘low risk’ group). While there was no difference between groups in the fundamental frequency or degree of phonation of the cry samples, the duration of each cry unit was significantly shorter in the high-risk siblings (p < .05). The six infant siblings who received a diagnosis of ASD at age two had amongst the shortest recorded cry durations. Lien vers le texte intégral (Open Access ou abonnement)
16. Vella L, Ring HA, Aitken MR, Watson PC, Presland A, Clare IC. {{Understanding self-reported difficulties in decision-making by people with autism spectrum disorders}}. {Autism};2017 (Apr 01):1362361316687988.
Autobiographical accounts and a limited research literature suggest that adults with autism spectrum disorders can experience difficulties with decision-making. We examined whether some of the difficulties they describe correspond to quantifiable differences in decision-making when compared to adults in the general population. The participants (38 intellectually able adults with autism spectrum disorders and 40 neurotypical adults) were assessed on three tasks of decision-making (Iowa Gambling Task, Cambridge Gamble Task and Information Sampling Task), which quantified, respectively, decision-making performance and relative attention to negative and positive outcomes, speed and flexibility, and information sampling. As a caution, all analyses were repeated with a subset of participants ( nASD = 29 and nneurotypical = 39) who were not taking antidepressant or anxiolytic medication. Compared to the neurotypical participants, participants with autism spectrum disorders demonstrated slower decision-making on the Cambridge Gamble Task, and superior performance on the Iowa Gambling Task. When those taking the medications were excluded, participants with autism spectrum disorders also sampled more information. There were no other differences between the groups. These processing tendencies may contribute to the difficulties self-reported in some contexts; however, the results also highlight strengths in autism spectrum disorders, such as a more logical approach to, and care in, decision-making. The findings lead to recommendations for how adults with autism spectrum disorders may be better supported with decision-making.
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17. Zimmerman D, Ownsworth T, O’Donovan A, Roberts J, Gullo MJ. {{Associations between executive functions and mental health outcomes for adults with autism spectrum disorder}}. {Psychiatry Res};2017 (Apr 12);253:360-363.
Associations between executive functions (EF) and mental-health in adults with autism spectrum disorder (ASD) were examined. Forty-two adults with ASD completed measures of EF, mood and self-concept. Better concept formation and social inference skills were significantly associated with fewer anxiety symptoms. Conversely, participants with better non-verbal reasoning, cognitive flexibility and social cognition reported more negative self-concept and lower self-esteem. Overall, individuals with impaired EF are more prone to anxiety, whereas those with stronger EF are more likely to experience negative self-concept. Screening for and monitoring mental-health concerns in people with ASD regardless of their level of EF is recommended.
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18. Zuculo GM, Goncalves BSB, Brittes C, Menna-Barreto L, Pinato L. {{Melatonin and circadian rhythms in autism: Case report}}. {Chronobiol Int};2017;34(4):527-530.
Among the most co-occurring conditions in autism spectrum disorders (ASD), there are sleep disorders which may exacerbate associated behavioral disorders and lead to intensification of existing autistic symptoms. Several studies investigating the use of melatonin in the treatment of sleep disorders in ASD have shown comparative efficiency in sleep with little or no side effects. Here we report a case of ASD with non-24-hour rhythm and the effect of melatonin in circadian parameters by actigraphy. Visual analysis of the first 10 days recorded and the periodogram suggest that this patient showed a non-24-hour rhythm. This ASD subject showed before melatonin administration an activity/rest rhythm lower than 24 hours. The results show that melatonin increased approximately 4.7 times the regularity of circadian activity rhythm and resting staying on average between 00:00 and 06:00 and showed positive effects in improving the quality of sleep and behavior. So, the actigraphy showed an ASD subject with a non-24-hour activity/rest rhythm which changed this rhythm to a 24-hour rhythm after melatonin administration. This result reinforces the prospect of therapy with melatonin for synchronization (increased regularity) of endogenous rhythms and improve sleep quality and hence behavior and indicates the actigraphy as a choice tool to characterize several parameters of the activity/rest rhythm of ASD individuals.
