Pubmed du 08/05/18

mardi 8 mai 2018

1. Vaccinations and the link to ’canine autism’. The Veterinary record. 2018 ; 182(18) : 501.

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2. Akhavan Aghdam M, Sharifi A, Pedram MM. Combination of rs-fMRI and sMRI Data to Discriminate Autism Spectrum Disorders in Young Children Using Deep Belief Network. Journal of digital imaging. 2018.

In recent years, the use of advanced magnetic resonance (MR) imaging methods such as functional magnetic resonance imaging (fMRI) and structural magnetic resonance imaging (sMRI) has recorded a great increase in neuropsychiatric disorders. Deep learning is a branch of machine learning that is increasingly being used for applications of medical image analysis such as computer-aided diagnosis. In a bid to classify and represent learning tasks, this study utilized one of the most powerful deep learning algorithms (deep belief network (DBN)) for the combination of data from Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) datasets. The DBN was employed so as to focus on the combination of resting-state fMRI (rs-fMRI), gray matter (GM), and white matter (WM) data. This was done based on the brain regions that were defined using the automated anatomical labeling (AAL), in order to classify autism spectrum disorders (ASDs) from typical controls (TCs). Since the diagnosis of ASD is much more effective at an early age, only 185 individuals (116 ASD and 69 TC) ranging in age from 5 to 10 years were included in this analysis. In contrast, the proposed method is used to exploit the latent or abstract high-level features inside rs-fMRI and sMRI data while the old methods consider only the simple low-level features extracted from neuroimages. Moreover, combining multiple data types and increasing the depth of DBN can improve classification accuracy. In this study, the best combination comprised rs-fMRI, GM, and WM for DBN of depth 3 with 65.56% accuracy (sensitivity = 84%, specificity = 32.96%, F1 score = 74.76%) obtained via 10-fold cross-validation. This result outperforms previously presented methods on ABIDE I dataset.

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3. Bileviciute-Ljungar I, Maroti D, Bejerot S. Patients with chronic fatigue syndrome do not score higher on the autism-spectrum quotient than healthy controls : Comparison with autism spectrum disorder. Scandinavian journal of psychology. 2018.

Clinically, there is an overlap of several symptoms of chronic fatigue syndrome (CFS) and autism spectrum disorder (ASD), including fatigue ; brain "fog" ; cognitive impairments ; increased sensitivity to sound, light, and odour ; increased pain and tenderness ; and impaired emotional contact. Adults with CFS (n = 59) or ASD (n = 50) and healthy controls (HC ; n = 53) were assessed with the Autism-Spectrum Quotient (AQ) in a cross-sectional study. Non-parametric analysis was used to compare AQ scores among the groups. Univariate analysis of variance (ANCOVA) was used to identify if age, sex, or diagnostic group influenced the differences in scores. Patients with ASD scored significantly higher on the AQ than the CFS group and the HC group. No differences in AQ scores were found between the CFS and HC groups. AQ results were influenced by the diagnostic group but not by age or sex, according to ANCOVA. Despite clinical observations of symptom overlap between ASD and CFS, adult patients with CFS report few autistic traits in the self-report instrument, the AQ. The choice of instrument to assess autistic traits may influence the results.

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4. Bishop-Fitzpatrick L, Movaghar A, Greenberg JS, Page D, DaWalt LS, Brilliant MH, Mailick MR. Using machine learning to identify patterns of lifetime health problems in decedents with autism spectrum disorder. Autism Res. 2018.

Very little is known about the health problems experienced by individuals with autism spectrum disorder (ASD) throughout their life course. We retrospectively analyzed diagnostic codes associated with de-identified electronic health records using a machine learning algorithm to characterize diagnostic patterns in decedents with ASD and matched decedent community controls. Participants were 91 decedents with ASD and 6,186 sex and birth year matched decedent community controls who had died since 1979, the majority of whom were middle aged or older adults at the time of their death. We analyzed all ICD-9 codes, V-codes, and E-codes available in the electronic health record and Elixhauser comorbidity categories associated with those codes. Diagnostic patterns distinguished decedents with ASD from decedent community controls with 75% sensitivity and 94% specificity solely based on their lifetime ICD-9 codes, V-codes, and E-codes. Decedents with ASD had higher rates of most conditions, including cardiovascular disease, motor problems, ear problems, urinary problems, digestive problems, side effects from long-term medication use, and nonspecific lab tests and encounters. In contrast, decedents with ASD had lower rates of cancer. Findings suggest distinctive lifetime diagnostic patterns among decedents with ASD and highlight the need for more research on health outcomes across the lifespan as the population of individuals with ASD ages. As a large wave of individuals with ASD diagnosed in the 1990s enters adulthood and middle age, knowledge about lifetime health problems will become increasingly important for care and prevention efforts. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study looked at patterns of lifetime health problems to find differences between people with autism who had died and community controls who had died. People with autism had higher rates of most health problems, including cardiovascular, urinary, respiratory, digestive, and motor problems, in their electronic health records. They also had lower rates of cancer. More research is needed to understand these potential health risks as a large number of individuals with autism enter adulthood and middle age.

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5. Escher J. Bugs in the program : can pregnancy drugs and smoking disturb molecular reprogramming of the fetal germline, increasing heritable risk for autism and neurodevelopmental disorders ?. Environmental epigenetics. 2018 ; 4(2) : dvy001.

In a seeming paradox, the prevalence of autism spectrum disorder (ASD) has surged, while at the same time research has pointed to the strong heritability of this neurodevelopmental pathology. Here an autism research philanthropist suggests a biological phenomenon of exogenously induced ’gamete disruption’ that could reconcile these seemingly contradictory observations. Mining information from her own family history and that of her fellow autism parents, while also engaging with the scientific community, she proposes that a subset of the autisms may be rooted in a variety of molecular glitches in parental gametes induced by certain acute exposures during the parents’ own fetal or neonatal development. These exposures include but are not limited to synthetic hormone drugs, tobacco, and general anesthesia. Consistent with this hypothesis, animal models have demonstrated adverse neurobehavioral outcomes in grandoffspring of gestating dams exposed to hormone-disrupting compounds, tobacco components, and general anesthesia. A recent epidemiological study showed a link between grandmaternal smoking and risk for ASD in grandoffspring through the maternal line. Given the urgency of the autism crisis, combined with the biological plausibility of this mostly unexplored paradigm, the writer contends that questions of nongenetic inheritance should be a priority in autism research.

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6. Gray KLH, Haffey A, Mihaylova HL, Chakrabarti B. Lack of Privileged Access to Awareness for Rewarding Social Scenes in Autism Spectrum Disorder. J Autism Dev Disord. 2018.

Reduced social motivation is hypothesised to underlie social behavioural symptoms of Autism Spectrum Disorder (ASD). The extent to which rewarding social stimuli are granted privileged access to awareness in ASD is currently unknown. We use continuous flash suppression to investigate whether individuals with and without ASD show privileged access to awareness for social over nonsocial rewarding scenes that are closely matched for stimulus features. Strong evidence for a privileged access to awareness for rewarding social over nonsocial scenes was observed in neurotypical adults. No such privileged access was seen in ASD individuals, and moderate support for the null model was noted. These results suggest that the purported deficits in social motivation in ASD may extend to early processing mechanisms.

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7. Grayaa S, Zerbinati C, Messedi M, HadjKacem I, Chtourou M, Ben Touhemi D, Naifar M, Ayadi H, Ayedi F, Iuliano L. Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders. Biochimie. 2018.

Cholesterol and its oxygenated metabolites, such as oxysterols, are intensively investigated as potential players in the pathophysiology of brain disorder. Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer’s disease, Amyotrophic Lateral Sclerosis, Parkinson’s disease, X-linked adrenoleukodystrophy, and Smith-Lemli-Opitz Syndrome. Recent studies have shown that Autism Spectrum Disorders are associated with disruption of cholesterol metabolism. The present study aimed at investigating the profile of oxysterols in plasma and their association with clinical parameters in patients with Autism Spectrum Disorders. Thirty-six children with Autism Spectrum Disorders and thirty-eight healthy children, from Sfax (a southern area of Tunisia) matched for age and sex, were included in the study. The severity of Autism Spectrum Disorders was evaluated using the childhood autism rating scale. Standard lipid profile (total cholesterol, triglycerides, and high-density lipoprotein-cholesterol), serum glucose, high-sensitive C-reactive protein, and orosomucoid levels were measured utilizing standard techniques ; oxysterol levels were measured by isotope-dilution gas chromatography/mass spectrometry. Standard lipid profile, serum glucose, high-sensitive C-reactive protein, and orosomucoid levels were similar between the two studied populations. Compared to the control group, children with Autism Spectrum Disorders showed a significant higher plasma level of 24-hydroxycholesterol, while borderline significance was observed for 7alpha-Hydroxycholesterol, and 25-hydroxycholersterol. In patients, 24-hydroxycholesterol was inversely correlated with age. Multivariate analysis showed that high plasma levels of 24-hydroxycholesterol are independent risk factors for Autism Spectrum Disorders. On the other hand, an analysis of the receiver’s operating characteristics proved that the measured parameters recorded satisfactory levels of specificity and sensitivity. The present study provides evidence that Autism Spectrum Disorders are associated with altered levels in circulating oxysterols. The finding that 24-hydroxycholesterol is an independent risk factor for the disease and suggests the use of this oxysterol as a diagnostic tool in Autism Spectrum Disorders.

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8. Henry TR, Dichter GS, Gates K. Age and Gender Effects on Intrinsic Connectivity in Autism Using Functional Integration and Segregation. Biol Psychiatry Cogn Neurosci Neuroimaging. 2018 ; 3(5) : 414-22.

BACKGROUND : The objective of this study was to examine intrinsic whole-brain functional connectivity in autism spectrum disorder (ASD) using the framework of functional segregation and integration. Emphasis was given to potential gender and developmental effects as well as identification of specific networks that may contribute to the global results. METHODS : We leveraged an open data resource (N = 1587) of resting-state functional magnetic resonance imaging data in the Autism Brain Imaging Data Exchange (ABIDE) initiative, combining data from more than 2100 unique cross-sectional datasets in ABIDE I and ABIDE II collected at different sites. Modularity and global efficiency were utilized to assess functional segregation and integration, respectively. A meta-analytic approach for handling site differences was used. The effects of age, gender, and diagnostic category on segregation and integration were assessed using linear regression. RESULTS : Modularity decreased nonlinearly in the ASD group with age, as evidenced by an increase and then decrease over development. Global efficiency had an opposite relationship with age by first decreasing and then increasing in the ASD group. Both modularity and global efficiency remained largely stable in the typically developing control group during development, representing a significantly different effect than seen in the ASD group. Age effects on modularity were localized to the somatosensory network. Finally, a marginally significant interaction between age, gender, and diagnostic category was found for modularity. CONCLUSIONS : Our results support prior work that suggested a quadratic effect of age on brain development in ASD, while providing new insights about the specific characteristics of developmental and gender effects on intrinsic connectivity in ASD.

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9. Ip JPK, Mellios N, Sur M. Rett syndrome : insights into genetic, molecular and circuit mechanisms. Nat Rev Neurosci. 2018.

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT have greatly advanced our understanding of the function and regulation of the multifunctional protein MeCP2. Here, we review recent advances in understanding how loss of MeCP2 impacts different stages of brain development, discuss recent findings demonstrating the molecular role of MeCP2 as a transcriptional repressor, assess primary and secondary effects of MeCP2 loss and examine how loss of MeCP2 can result in an imbalance of neuronal excitation and inhibition at the circuit level along with dysregulation of activity-dependent mechanisms. These factors present challenges to the search for mechanism-based therapeutics for RTT and suggest specific approaches that may be more effective than others.

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10. Jorge-Torres OC, Szczesna K, Roa L, Casal C, Gonzalez-Somermeyer L, Soler M, Velasco CD, Martinez-San Segundo P, Petazzi P, Saez MA, Delgado-Morales R, Fourcade S, Pujol A, Huertas D, Llobet A, Guil S, Esteller M. Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice. Cell reports. 2018 ; 23(6) : 1665-77.

Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2 gene (MeCP2). We propose here a molecular target involved in RTT : the glycogen synthase kinase-3b (Gsk3b) pathway. Gsk3b activity is deregulated in Mecp2-knockout (KO) mice models, and SB216763, a specific inhibitor, is able to alleviate the clinical symptoms with consequences at the molecular and cellular levels. In vivo, inhibition of Gsk3b prolongs the lifespan of Mecp2-KO mice and reduces motor deficits. At the molecular level, SB216763 rescues dendritic networks and spine density, while inducing changes in the properties of excitatory synapses. Gsk3b inhibition can also decrease the nuclear activity of the Nfkb1 pathway and neuroinflammation. Altogether, our findings indicate that Mecp2 deficiency in the RTT mouse model is partially rescued following treatment with SB216763.

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11. Kamat PP, Bryan LN, McCracken CE, Simon HK, Berkenbosch JW, Grunwell JR. Procedural sedation in children with autism spectrum disorders : A survey of current practice patterns of the society for pediatric sedation members. Paediatric anaesthesia. 2018.

BACKGROUND : Children with autism spectrum disorder are challenging to sedate because of communication, sensory, and behavioral challenges. AIMS : The aim of this survey was to determine how procedural sedation is provided to children with autism spectrum disorders and whether sedation programs have specialized protocols for procedural sedation of these children. METHODS : We surveyed physician Medical Directors of sedation programs who are members of the Society for Pediatric Sedation, asking about practice characteristics and resource utilization during procedural sedation of children with autism spectrum disorders. RESULTS : Of 58 directors, 47 (81%) responded. Of the programs surveyed, 53% were either a large university medical center and 40% were a freestanding children’s hospital. Only (12/47, 25.5%) of the programs used an individualized autism coping plan. To accomplish procedural sedation in this study cohort, 36% of the programs used additional nurses, whereas a child life specialist was used in 55% of the programs surveyed. Only 28% of the centers allotted additional time to accommodate children with autism spectrum disorders. Distraction methods were used in 80% whereas restrains were used in 45% programs for were used most commonly for i.v. catheter placement. Propofol was the preferred agent for 70% of programs for imaging, while propofol + fentanyl was used by 66% of programs for painful procedures. Although 57% of directors reported that their program staff was extremely comfortable providing procedural sedation for children with autism spectrum disorder, 79% of the directors wanted more education about behavioral management strategies for procedural sedation of these children. CONCLUSION : Among the Society for Pediatric Sedation programs, significant institutional variation exists on the delivery of procedural sedation to children with autism spectrum disorders. A better understanding of resources required, standardization of behavioral management strategies and pharmacologic approaches, and protocol development may help optimize care to this vulnerable population.

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12. Kanne SM, Carpenter LA, Warren Z. Screening in toddlers and preschoolers at risk for autism spectrum disorder : Evaluating a novel mobile-health screening tool. Autism Res. 2018.

There are many available tools with varying levels of accuracy designed to screen for Autism Spectrum Disorder (ASD) in young children, both in the general population and specifically among those referred for developmental concerns. With burgeoning waitlists for comprehensive diagnostic ASD assessments, finding accurate methods and tools for advancing diagnostic triage becomes increasingly important. The current study compares the efficacy of four oft used paper and pencil measures, the Modified Checklist for Autism in Toddlers Revised with Follow-up, the Social Responsiveness Scale, Second Edition, and the Social Communication Questionnaire, and the Child Behavior Checklist to a novel mobile-health screening tool developed by Cognoa, Inc. (Cognoa) in a group of children 18-72 months of age. The Cognoa tool may have potential benefits as it integrates a series of parent-report questions with remote clinical ratings of brief video segments uploaded via parent’s smartphones to calculate level of ASD risk. Participants were referred to one of three tertiary care diagnostic centers for ASD-related concerns (n = 230) and received a best estimate ASD diagnosis. Analysis and comparison of psychometric properties indicated potential advantages for Cognoa within this clinical sample across age ranges not often covered by another single measure/tool. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : With the wait times getting longer for comprehensive Autism Spectrum Disorder (ASD) diagnostic assessments, it is becoming increasingly important to find accurate tools to screen for ASD. The current study compares four screening measures that have been in use for some time to a novel mobile-health screening tool, called Cognoa. The Cognoa tool is novel because it integrates parent-report questions with clinical ratings of brief video segments uploaded via parent’s smartphones to calculate ASD risk. Two hundred thirty children who were referred to one of three ASD specialty diagnostic centers to see if they had ASD participated in the study. A direct comparison indicated potential advantages for Cognoa not often covered by another single measure/tool.

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13. Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Campiani G, Renieri A, Meloni I. iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated alpha-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. Experimental cell research. 2018.

Mutations in MECP2 gene have been identified in more than 95% of patients with classic Rett syndrome, one of the most common neurodevelopmental disorders in females. Taking advantage of the breakthrough technology of genetic reprogramming, we investigated transcriptome changes in neurons differentiated from induced Pluripotent Stem Cells (iPSCs) derived from patients with different mutations. Profiling by RNA-seq in terminally differentiated neurons revealed a prominent GABAergic circuit disruption along with a perturbation of cytoskeleton dynamics. In particular, in mutated neurons we identified a significant decrease of acetylated alpha-tubulin which can be reverted by treatment with selective inhibitors of HDAC6, the main alpha-tubulin deacetylase. These findings contribute to shed light on Rett pathogenic mechanisms and provide hints for the treatment of Rett-associated epileptic behavior as well as for the definition of new therapeutic strategies for Rett syndrome.

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14. Ligsay A, El-Deeb M, Salcedo-Arellano MJ, Schloemerkemper N, Grayson JS, Hagerman R. General Anesthetic Use in Fragile X Spectrum Disorders. Journal of neurosurgical anesthesiology. 2018.

The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders. However, at this time, there have been no formal research studies regarding cellular changes or long-term clinical manifestations after general anesthetic use in this population. This review aims to highlight previous case reports regarding sequelae related to general anesthetic use in fragile X-associated disorders. New case reports related to this phenomenon are also included.

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15. Lytle S, Hunt A, Moratschek S, Hall-Mennes M, Sajatovic M. Youth With Autism Spectrum Disorder in the Emergency Department. J Clin Psychiatry. 2018 ; 79(3).

OBJECTIVE : This comprehensive literature review summarizes reports on emergency department (ED) use by youth with autism spectrum disorder (ASD). DATA SOURCES : We conducted a systematic search of the PubMed, PsycINFO, CINAHL, and EMBASE databases (1985-2016), limited to studies published in English. The following search terms were used : autism, autistic, Asperger, emergency department/room/physician/doctor/treatment/medicine, childhood developmental disorders (pervasive), and emergencies. STUDY SELECTION : Our search found 332 articles, of which 12 specifically addressed ED services in ASD youth. DATA EXTRACTION : Abstracts or full text articles were reviewed for relevance. Case reports, review articles, and studies that reported on adults only or that included youth and adults but did not stratify results by age were excluded. RESULTS : Youth (aged 0-17 years) with ASD were up to 30 times more likely to present to the ED than youth without ASD. Individuals with ASD who visited the ED were older, more likely to have public insurance, and more likely to have nonurgent ED visits. For youth with ASD, up to 13% of visits were for behavioral or psychiatric problems, whereas for youth without ASD less than 2% were for psychiatric problems. ASD youth were more likely to present for externalizing problems or psychotic symptoms. Youth with ASD were also likely to have repeat visits to the ED and more likely to be admitted to a psychiatric unit or medical floor than youth without ASD. CONCLUSIONS : This review found significant gaps in the literature related to ED service use by youth with ASD. More research is needed to avoid unnecessary ED utilization and hospitalization, reduce medical costs, and improve outcome for youth with ASD.

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16. Mance Calisir O, Atbasoglu EC, Devrimci Ozguven H, Olmez S. Cognitive Features of High-functioning Adults with Autism and Schizophrenia Spectrum Disorders. Turk psikiyatri dergisi = Turkish journal of psychiatry. 2018 ; 29(1) : 1-10.

OBJECTIVE : Autism Spectrum Disorder (ASD) and schizophrenia share common features in terms of pathophysiology and clinical appearance. Cognitive deficits are also present in both disorders. However, ASD and schizophrenia are heterogeneous syndromes, and few studies have addressed patients with these disorders who have above average educational attainment. In this study, we assessed the cognitive functions of a group of adult ASD patients with adequate mental development and verbal communication skills (High Functioning Autism, HFA) and compared them with a group of Schizophrenia patients matched for level of education. METHOD : Three groups of patients and controls [(HFA, n= 32), Schizophrenia (n= 17), Controls (n= 23)], all with at least a high school education, were assessed with the Wechsler Adult Intelligence Scale (WAIS), Wisconsin Card Sorting Test (WCST), and Rey Auditory Verbal Learning Test (RAVLT). For the assessment of HFA, scores on the Autism Spectrum Disorders in Adults Screening Questionnaire were taken into consideration. Clinical diagnoses were based on DSM-IV TR and DSM-5 criteria. RESULTS : High Functioning Autism and Schizophrenia groups performed similarly in all subtests except for WAIS Comprehension and Digit Symbol, WCST Perseveration, and RAVLT Learning. CONCLUSION : Comprehension abilities of educated adults with HFA could be higher than average in situations that do not involve social interaction. Tendency to perseveration in the presence of adequate concept formation ability may reflect the clinical symptoms of rigidity and repetitive behavior. In patients with higher levels of functioning and education, their diagnosis appears to be weakly associated with cognitive functioning. The potential roles of other variables, such as environmental factors, during development deserve further exploration in future studies.

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17. Mason D, McConachie H, Garland D, Petrou A, Rodgers J, Parr JR. Predictors of quality of life for autistic adults. Autism Res. 2018.

Research with adults on the autism spectrum is as yet limited in scope and quality. The present study describes quality of life (QoL) of a large sample of autistic adults in the UK and investigates characteristics that may be predictive of QoL. A total of 370 autistic adults from the Adult Autism Spectrum Cohort-UK (ASC-UK) completed the WHOQoL-BREF, and the Social Responsiveness Scale (SRS, autism symptom severity), along with the ASC-UK registration questionnaire giving information on mental health and their life situation. QoL for autistic adults was lower than for the general population for each WHOQoL domain. Younger participants reported higher QoL than older participants in psychological and environment domains. Males reported higher physical QoL than females, and females reported higher social QoL than males. Significant positive predictors of QoL were : being employed (physical QoL), receiving support (social and environment QoL), and being in a relationship (social QoL). Having a mental health condition and higher SRS total score were negative predictors of QoL across all four domains. Autistic adults require access to effective mental health interventions, and informal and formal support for their social difficulties, to improve their quality of life. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY : There has been limited research into the lived experience of autistic adults. Using the World Health Organization quality of life measure, we found that autistic people (370) in the UK reported their quality of life to be lower than that of the general population. Better quality of life was associated with being in a relationship ; those with a mental health condition had poorer quality of life. This research suggests some ways in which autistic people can be helped to improve their quality of life.

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18. Mitsuhashi S, Hirata S, Okuzumi H. Role of Inner Speech on Serial Recall in Children with ASD : A Pilot Study Using the Luria Hand Test. Autism research and treatment. 2018 ; 2018 : 6873412.

This study was conducted to investigate the relation between the effect of articulatory suppression on the serial recall and severity of social impairments among children with autism spectrum disorders (ASD). The Luria hand test (LHT) was administered to evaluate the capacity for serial recall in 13 children with ASD. The LHT was administered under three conditions : control, under articulatory suppression, and under spatial suppression. Performance on the LHT of children with ASD was significantly lower in terms of both articulatory suppression and the spatial suppression condition. Moreover, the severity of social impairment in children with ASD was related to individual differences of effects of articulatory suppression on the LHT, but not with effects of spatial suppression. These results support the notion that dialogic inner speech which mediates complex cognitive abilities has inherently social origins.

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19. Nystrom P, Gliga T, Nilsson Jobs E, Gredeback G, Charman T, Johnson MH, Bolte S, Falck-Ytter T. Enhanced pupillary light reflex in infancy is associated with autism diagnosis in toddlerhood. Nat Commun. 2018 ; 9(1) : 1678.

Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population. We previously discovered that infant siblings of children with ASD had stronger pupillary light reflexes compared to low-risk infants, a result which contrasts sharply with the weak pupillary light reflex typically seen in both children and adults with ASD. Here, we show that on average the relative constriction of the pupillary light reflex is larger in 9-10-month-old high risk infant siblings who receive an ASD diagnosis at 36 months, compared both to those who do not and to low-risk controls. We also found that the magnitude of the pupillary light reflex in infancy is associated with symptom severity at follow-up. This study indicates an important role of sensory atypicalities in the etiology of ASD, and suggests that pupillometry, if further developed and refined, could facilitate risk assessment in infants.

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20. Prigge MBD, Bigler ED, Travers BG, Froehlich A, Abildskov T, Anderson JS, Alexander AL, Lange N, Lainhart JE, Zielinski BA. Social Responsiveness Scale (SRS) in Relation to Longitudinal Cortical Thickness Changes in Autism Spectrum Disorder. J Autism Dev Disord. 2018.

The relationship between brain development and clinical heterogeneity in autism (ASD) is unknown. This study examines the Social Responsiveness Scale (SRS) in relation to the longitudinal development of cortical thickness. Participants (N = 91 ASD, N = 56 TDC ; 3-39 years at first scan) were scanned up to three times over a 7-year period. Mixed-effects models examined cortical thickness in relation to SRS score. ASD participants with higher SRS scores showed regionally increased age-related cortical thinning. Regional thickness differences and reduced age-related cortical thinning were found in predominantly right lateralized regions in ASD with decreasing SRS scores over time. Our findings emphasize the importance of examining clinical phenotypes in brain-based studies of ASD.

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21. Qian X. Differences in teachers verbal responsiveness to groups of children with ASD who vary in cognitive and language abilities. J Intellect Disabil Res. 2018 ; 62(6) : 557-68.

BACKGROUND : This study aimed to examine whether verbal responsiveness in special education teachers varied among subgroups of children with autism spectrum disorder (n = 112) who differed in cognitive and language abilities. METHODS : Participants were divided into clusters using cluster analysis based on standardised cognitive and language tests using k-mean clustering. For each child, a 15-min video of free play in school setting was collected. Three types of responsive utterances were coded : follow-in directives for behaviour, follow-in directives for language and follow-in comments. RESULTS : Results showed that the three groups did not differ in overall verbal responsiveness after controlling for engagement, classroom type, age and gender. However, groups differ in follow-in directives for language, but not in follow-in directives for behaviours or follow-in comments. Compared with children with autism spectrum disorder who had higher cognitive and language ability, children with more severe impairments received fewer follow-in directives for language. Moreover, children with more cognitive and language impairments produced fewer amount of vocal/verbal acts, which results in receiving fewer verbal responses from their teachers. Additionally, teachers from the three groups did not differ in their responses to the child’s verbal/vocal acts when the number of the child’s verbal/vocal acts were controlled for. CONCLUSION : Findings suggest child characteristics are related to the type of teachers’ verbal responses in preschools. This difference in follow-in directives for questions may be related to language or other outcomes that warrant further investigations.

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22. Raspa M, Franco V, Bishop E, Wheeler AC, Wylie A, Bailey DB, Jr. A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. Res Dev Disabil. 2018 ; 78 : 1-14.

BACKGROUND : Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability. AIMS : The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions. METHODS AND PROCEDURES : We used survey methods to assess parent-reported functional academic and daily living skills in 534 males with FXS. Functional academic skills included time and schedules, money, math, reading, and writing skills. Daily living skills included hygiene, cooking, laundry and housekeeping, transportation, and safety skills. OUTCOMES AND RESULTS : Analyses examined functional academic and daily living skills in a cross-sectional sample of males between ages 5 and 67. Differences in skill attainment were found by child age, co-morbid autism status, total number of co-occurring conditions, and respondent education. Functional academic and daily living skills were predictive of community employment and independent living. CONCLUSIONS AND IMPLICATIONS : These data provide important information on the mastery of both foundational and more complex adaptive skills in males with FXS. Both functional academic and daily living skills were predictive of measures of independence above and beyond other child and family characteristics. These findings point to the need to focus interventions to support the attainment of independence in males with FXS.

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23. Rubenstein E, Chawla D. Broader autism phenotype in parents of children with autism : a systematic review of percentage estimates. J Child Fam Stud. 2018 ; 27(6) : 1705-20.

The broader autism phenotype (BAP) is a collection of sub-diagnostic autistic traits more common in families of individuals with autism spectrum disorder (ASD) than in the general population. BAP is a latent construct that can be defined using different domains, measured using multiple instruments, and reported using different techniques. Therefore, estimates of BAP may vary greatly across studies. Our objective was to systematically review studies that reported occurrence of BAP in parents of children with ASD in order to quantify and describe heterogeneity in estimates. We systematically searched PubMed and Scopus using PRISMA guidelines for studies quantifying percentage of parents of children with ASD who had BAP We identified 41 studies that measured BAP in parents of children with ASD. These studies used eight different instruments, four different forms of data collection, and had a wide range of sample sizes (N=4 to N=3299). Percentage with BAP ranged from 2.6% to 80%. BAP was more prevalent in fathers than mothers. Parental BAP may be an important tool for parsing heterogeneity in ASD etiology and for developing parent-mediated ASD interventions. However, the variety in measurement instruments and variability in study samples limits our ability to synthesize estimates. To improve measurement of BAP and increase consistency across studies, universal methods should be accepted and adopted across studies. A more consistent approach to BAP measurement may enable efficient etiologic research that can be meta-analyzed and may allow for a larger evidence base that can be used to account for BAP when developing parent-mediated interventions.

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24. Skalny AV, Simashkova NV, Skalnaya AA, Klyushnik TP, Zhegalova IV, Grabeklis AR, Skalnaya MG, Tinkov AA. Trace element levels are associated with neuroinflammatory markers in children with autistic spectrum disorder. Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 2018.

The objective of the present study was to estimate the association between brain inflammatory markers and serum trace element levels as assessed by inductively coupled plasma mass spectrometry at NexION 300D. Leukocyte elastase (LE), alpha1-proteinase inhibitor (alpha1-PI) activity, anti-nerve growth factor-antibodies (anti-NGF-Ab), and anti-myelin basic protein-antibodies (anti-MBP-Ab) levels were assessed as inflammatory markers. The obtained data demonstrate that the increase in LE and alpha1-PI activity is associated with higher serum Cr and Cu levels, respectively. The increase in Anti-NGF-Ab levels was associated with a nearly significant 16% increase in serum Mn levels. Autistic children with high MBP-Ab levels were characterized by 28% higher serum Mn and lower Mg concentration. The results of correlation analysis were generally in agreement with the outcome of group comparisons. Regression analysis demonstrated that serum Mg was significantly negatively associated with LE activity, whereas both serum Fe and V concentrations were characterized by a positive influence on the parameter. In turn, serum Cu was a significant predictor of alpha1-PI, as well as Cr levels. At the same time, the serum concentrations of Cd and Fe were found to be inversely associated with alpha1-PI levels. Serum Cd and Mn levels were significant positive predictors of anti-MBP-Ab levels, whereas Mg levels had a negative impact on anti-MBP-Ab values. Generally, the obtained data demonstrate the interrelationship between trace element homeostasis and neuroinflammation in autism. Hypothetically, modulation of trace element status may be used for reduction of neuroinflammatory response, although further studies are required to reveal the underlying mechanisms of the observed associations.

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25. Song J, Mailick MR, Greenberg JS. The Impact of the Great Recession on Midlife and Older parents of Individuals With a Mental Health Problem or a Developmental Disability. The Gerontologist. 2018 ; 58(3) : 448-55.

Background and Objectives : Parents of sons and daughters with disabilities have ongoing financial burdens and vulnerability due to the demands of caregiving responsibilities and their related direct and indirect costs. This study aims to investigate whether midlife and older parents of individuals with a mental health problem or a developmental disability were particularly vulnerable to the impact of the recession. Research Design and Methods : The data were drawn from Midlife in the United States (MIDUS), a longitudinal survey of a national probability sample in the United States, Waves II (2004-2006) and III (2013-2014 ; 84 parents of individuals with a mental health problem, 98 parents of individuals with a developmental disability, and 2,029 parents of individuals without any conditions as a comparison group). Results : The findings suggest that the midlife and older parents whose son or daughter had a mental health problem experienced more recession impacts than comparison parents, even after controlling prerecession financial status and sociodemographic characteristics. Discussion and Implications : The results indicate the need for policies that provide effective financial support and reduce restrictions on health service access in order to relieve the financial burden experienced by midlife and older parents of individuals with a mental health problem.

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26. Takamuku S, Forbes PAG, Hamilton AFC, Gomi H. Typical use of inverse dynamics in perceiving motion in autistic adults : Exploring computational principles of perception and action. Autism Res. 2018.

There is increasing evidence for motor difficulties in many people with autism spectrum condition (ASC). These difficulties could be linked to differences in the use of internal models which represent relations between motions and forces/efforts. The use of these internal models may be dependent on the cerebellum which has been shown to be abnormal in autism. Several studies have examined internal computations of forward dynamics (motion from force information) in autism, but few have tested the inverse dynamics computation, that is, the determination of force-related information from motion information. Here, we examined this ability in autistic adults by measuring two perceptual biases which depend on the inverse computation. First, we asked participants whether they experienced a feeling of resistance when moving a delayed cursor, which corresponds to the inertial force of the cursor implied by its motion-both typical and ASC participants reported similar feelings of resistance. Second, participants completed a psychophysical task in which they judged the velocity of a moving hand with or without a visual cue implying inertial force. Both typical and ASC participants perceived the hand moving with the inertial cue to be slower than the hand without it. In both cases, the magnitude of the effects did not differ between the two groups. Our results suggest that the neural systems engaged in the inverse dynamics computation are preserved in ASC, at least in the observed conditions. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We tested the ability to estimate force information from motion information, which arises from a specific "inverse dynamics" computation. Autistic adults and a matched control group reported feeling a resistive sensation when moving a delayed cursor and also judged a moving hand to be slower when it was pulling a load. These findings both suggest that the ability to estimate force information from motion information is intact in autism.

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27. van der Miesen AIR, Hurley H, Bal AM, de Vries ALC. Prevalence of the Wish to be of the Opposite Gender in Adolescents and Adults with Autism Spectrum Disorder. Archives of sexual behavior. 2018.

Several studies have suggested an overrepresentation of (symptoms of) autism spectrum disorder (ASD) among individuals with gender dysphoria. Three studies have taken the inverse approach in children with ASD and showed increased parent report of the wish to be of the opposite gender in this group. This study compared the self-reported wish to be of the opposite gender (one item of the Youth Self-Report [YSR] and the Adult Self-Report [ASR]) of 573 adolescents (469 assigned boys and 104 assigned girls) and 807 adults (616 assigned males and 191 assigned females) with ASD to 1016 adolescents and 846 adults from the general population. Emotional and behavioral problems were measured by the DSM-oriented scales of the YSR and ASR. In addition, the Children’s Social Behavior Questionnaire and the Adult Social Behavior Questionnaire were used to measure specific subdomains of the ASD spectrum to test whether specific subdomains of ASD were particularly involved. Significantly more adolescents (6.5%) and adults (11.4%) with ASD endorsed this item as compared to the general population (3-5%). In adolescents, assigned girls endorsed this item more than assigned boys. No significant gender differences were found in the adults with ASD. In addition, on all DSM-oriented scales of both the YSR and ASR, adolescents and adults with ASD who endorsed the gender item had significantly higher scores compared to those without. There were no significant associations between endorsement of the gender item and any specific subdomain of ASD, providing no evidence for a sole role of one of the ASD subdomains and endorsement of the wish to be the opposite gender.

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28. Yu L, Wang S, Huang D, Wu X, Zhang Y. Role of inter-trial phase coherence in atypical auditory evoked potentials to speech and nonspeech stimuli in children with autism. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 2018 ; 129(7) : 1374-82.

OBJECTIVE : This autism study investigated how inter-trial phase coherence (ITPC) drives abnormalities in auditory evoked potential (AEP) responses for speech and nonspeech stimuli. METHODS : Auditory P1-N2 responses and ITPCs in the theta band (4-7Hz) for pure tones and words were assessed with EEG data from 15 school-age children with autism and 16 age-matched typically developing (TD) controls. RESULTS : The autism group showed enhanced P1 and reduced N2 for both speech and nonspeech stimuli in comparison with the TD group. Group differences were also found with enhanced theta ITPC for P1 followed by ITPC reduction for N2 in the autism group. The ITPC values were significant predictors of P1 and N2 amplitudes in both groups. CONCLUSIONS : Abnormal trial-to-trial phase synchrony plays an important role in AEP atypicalities in children with autism. ITPC-driven enhancement as well as attenuation in different AEP components may coexist, depending on the stage of information processing. SIGNIFICANCE : It is necessary to examine the time course of auditory evoked potentials and the corresponding inter-trial coherence of neural oscillatory activities to better understand hyper- and hypo- sensitive responses in autism, which has important implications for sensory based treatment.

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