1. Bai Y, Qiu S, Li Y, Li Y, Zhong W, Shi M, Zhu X, Jiang H, Yu Y, Cheng Y, Liu Y. {{Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder}}. {IUBMB life}. 2018.
Autism spectrum disorder (ASD), as one of early-onset neurodevelopmental disorders, is characterized by the following symptoms, including repetitive and stereotyped behaviors, impairments in social interaction, and dysfunctions in communication. ASD afflicts approximately 1.5% of children aged 8 years in America and approximately 4.5 per thousand of children aged 0-6 years in China. Existing studies suggest that SH3 and multiple ankyrin repeat domains protein 2 (SHANK2) is implicated in ASD. However, associations between SNPs in SHANK2 introns and ASD risk have been less investigated. In this study, on the basis of case-control study (226 cases and 239 controls), we selected nine SNPs (rs76717360, rs11236697, rs74336682, rs77950809, rs17428526, rs35459123, rs75357229, rs61887413, and rs77716438) in SHANK2 introns to investigate genetic associations between SHANK2 polymorphisms and susceptibility to ASD using improved multiple ligase detection reaction (iMLDR). We identified that the polymorphism of rs76717360 was associated with risk of ASD in Chinese population; the haplotype of rs11236697 C (T) or rs74336682 G (A) increased ASD risk; and haplotypes with >/= five SNPs containing rs11236697 and rs74336682 were associated with risk of ASD. Our results indicate SHANK2 is a susceptibility gene for ASD in Chinese children. (c) 2018 IUBMB Life, 2018.
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2. Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R. {{Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder}}. {Seizure}. 2018; 60: 91-3.
SCN2A encodes the alpha-subunit of voltage-gated sodium channel, Nav1.2, which is highly expressed at an early stage of the postnatal brain. Genetic studies revealed that de novo heterozygous mutations of SCN2A caused severe developmental disorders in childhood, such as autism and epileptic encephalopathy. However, few reports have demonstrated the cases carrying segmental deletions at the SCN2A locus for those with epileptic disorders. In this study, we report a 1.8-year-old boy, who presented with West syndrome in infancy and developed the sequelae of psychomotor delay and autism. Since whole-exome sequencing did not detect pathogenic mutations, we extensively searched for microdeletions and duplications by applying the eXome Hidden Markov Model (XHMM) for read depths of sequenced intervals. Using this approach, we identified a de novo deletion spanning the 1.1-Mb region of chromosome 2q24.3. We found that the deleted interval included the SCN2A and SCN3A loci. These data validate the utility of XHMM and support that SCN2A is involved in the pathogenic processes underlying epileptic encephalopathy in childhood.
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3. Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE. {{The ASD Living Biology: from cell proliferation to clinical phenotype}}. {Mol Psychiatry}. 2018.
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the lay public because of its uncertain origins and striking and unexplained clinical heterogeneity. Here we review genetic, genomic, cellular, postmortem, animal model, and cell model evidence that shows ASD begins in the womb. This evidence leads to a new theory that ASD is a multistage, progressive disorder of brain development, spanning nearly all of prenatal life. ASD can begin as early as the 1st and 2nd trimester with disruption of cell proliferation and differentiation. It continues with disruption of neural migration, laminar disorganization, altered neuron maturation and neurite outgrowth, disruption of synaptogenesis and reduced neural network functioning. Among the most commonly reported high-confidence ASD (hcASD) genes, 94% express during prenatal life and affect these fetal processes in neocortex, amygdala, hippocampus, striatum and cerebellum. A majority of hcASD genes are pleiotropic, and affect proliferation/differentiation and/or synapse development. Proliferation and subsequent fetal stages can also be disrupted by maternal immune activation in the 1st trimester. Commonly implicated pathways, PI3K/AKT and RAS/ERK, are also pleiotropic and affect multiple fetal processes from proliferation through synapse and neural functional development. In different ASD individuals, variation in how and when these pleiotropic pathways are dysregulated, will lead to different, even opposing effects, producing prenatal as well as later neural and clinical heterogeneity. Thus, the pathogenesis of ASD is not set at one point in time and does not reside in one process, but rather is a cascade of prenatal pathogenic processes in the vast majority of ASD toddlers. Despite this new knowledge and theory that ASD biology begins in the womb, current research methods have not provided individualized information: What are the fetal processes and early-age molecular and cellular differences that underlie ASD in each individual child? Without such individualized knowledge, rapid advances in biological-based diagnostic, prognostic, and precision medicine treatments cannot occur. Missing, therefore, is what we call ASD Living Biology. This is a conceptual and paradigm shift towards a focus on the abnormal prenatal processes underlying ASD within each living individual. The concept emphasizes the specific need for foundational knowledge of a living child’s development from abnormal prenatal beginnings to early clinical stages. The ASD Living Biology paradigm seeks this knowledge by linking genetic and in vitro prenatal molecular, cellular and neural measurements with in vivo post-natal molecular, neural and clinical presentation and progression in each ASD child. We review the first such study, which confirms the multistage fetal nature of ASD and provides the first in vitro fetal-stage explanation for in vivo early brain overgrowth. Within-child ASD Living Biology is a novel research concept we coin here that advocates the integration of in vitro prenatal and in vivo early post-natal information to generate individualized and group-level explanations, clinically useful prognoses, and precision medicine approaches that are truly beneficial for the individual infant and toddler with ASD.
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4. Cvejic RC, Eagleson C, Weise J, Davies K, Hopwood M, Jenkins K, Trollor JN. {{Building workforce capacity in Australia and New Zealand: a profile of psychiatrists with an interest in intellectual and developmental disability mental health}}. {Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists}. 2018: 1039856218781018.
OBJECTIVE: To describe the characteristics of psychiatrists working in the area of intellectual and developmental disability mental health (IDDMH) across Australia and New Zealand. METHODS: A secondary analysis of data collected by the Royal Australian and New Zealand College of Psychiatrists 2014 workforce survey. Characteristics of the IDDMH workforce ( n=146 psychiatrists) were compared with those of the broader psychiatry workforce ( n=1050 psychiatrists). RESULTS: The IDDMH workforce were more likely than the broader psychiatry workforce to be working across both the public and private health sectors, be engaged in outreach work, endorse specialty practice areas pertinent to IDDMH, treat younger patients and work more clinical hours per week. Part-time status and retirement plans of the IDDMH workforce matched those of the broader psychiatry workforce. CONCLUSIONS: While some elements of the IDDMH workforce profile suggest this workforce is tailored to the needs of the population, the potential shortage of IDDMH psychiatrists highlights the need for the development of a specific training programme and pathway in this area.
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5. Daghsni M, Rima M, Fajloun Z, Ronjat M, Bruses JL, M’Rad R, De Waard M. {{Autism throughout genetics: Perusal of the implication of ion channels}}. {Brain and behavior}. 2018: e00978.
BACKGROUND: Autism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders. METHODS: A narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted. RESULTS: Genome-wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD. CONCLUSION: This review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD.
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6. Del Hoyo Soriano L, Thurman AJ, Harvey DJ, Ted Brown W, Abbeduto L. {{Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome}}. {J Neurodev Disord}. 2018; 10(1): 22.
BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population.
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7. El-Ansary A, Bjorklund G, Khemakhem AM, Al-Ayadhi L, Chirumbolo S, Ben Bacha A. {{Metabolism-Associated Markers and Childhood Autism Rating Scales (CARS) as a Measure of Autism Severity}}. {Journal of molecular neuroscience : MN}. 2018.
Autism spectrum disorder (ASD) is a neuro-behavioral syndrome with a broad spectrum of different mechanisms and etiologies that are caused by abnormal brain development. To date, no highly reliable and effective diagnostic biomarker to assess ASD is available so far. The present study investigated the predictivity potential of some suggested markers in ASD diagnosis focusing onto the relative ratios of several plasma biomarkers of electron transport chain function, and mitochondrial metabolism in 41 patients with ASD evaluated for behavior deficits measured using Childhood Autism Rating Scales (CARS). The control matched for further 41 healthy subjects. The relation of these relative ratios to ASD severity was also examined, as well as their ability to distinguish ASD children from neurotypical children. All predictive ratios were found to be markedly altered and correlated in ASD patients. However, no ratio was connected with autism severity. Interestingly, MRCC-I/caspase-7, GSH/GST, and MRCC-I/COQ10 were the most distinctive relative ratios between neurotypical controls and ASD patients and may thereby be useful biomarkers for early diagnosis of ASD. Overall, this investigation proves that relative ratios of numerous mitochondrial biomarkers might be predictive and efficient to differentiate between neurotypical children and ASD.
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8. Fenning RM, Baker JK, Moffitt J. {{Intrinsic and Extrinsic Predictors of Emotion Regulation in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Difficulties regulating emotion have been linked to comorbid psychopathology in children with autism spectrum disorder (ASD), but little empirical work has examined predictors of dysregulation in this population. Forty-six families of children with ASD participated in a laboratory visit that included direct measurement of children’s IQ, ASD symptoms, and psychophysiological reactivity. Child emotion regulation was observed during independent and co-regulatory tasks, and parental scaffolding was rated in the dyadic context. ASD symptom severity emerged as the strongest predictor of child emotion dysregulation across contexts. Child age and parental scaffolding also uniquely predicted child dysregulation in the dyadic task. Implications for conceptualizing intrinsic and extrinsic influences on emergent emotion regulation in children with ASD are discussed, as are applications to intervention.
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9. Hull JV, Dokovna LB, Jacokes ZJ, Torgerson CM, Irimia A, Van Horn JD. {{Corrigendum: Resting-State Functional Connectivity in Autism Spectrum Disorders: A Review}}. {Frontiers in psychiatry}. 2018; 9: 268.
[This corrects the article on p. 205 in vol. 7, PMID: 28101064.].
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10. Jones KL, Van de Water J. {{Maternal autoantibody related autism: mechanisms and pathways}}. {Mol Psychiatry}. 2018.
It has been estimated that autism spectrum disorder (ASD) now affects 1 in 59 children in the United States. Although the cause(s) of ASD remain largely unknown, it is becoming increasingly apparent that ASD can no longer be defined simply as a behavioral disorder, but is in effect a rather complex and highly heterogeneous biological disorder. Up until recently the brain was thought to be « immune privileged. » However, it is now known that the immune system plays critical roles in the development and functioning of the brain throughout life. Recent evidence from multiple investigators has illustrated the deleterious role that dysregulation of the maternal immune system during gestation can play in the manifestation of changes in neurodevelopment, resulting in the development of neurobehavioral disorders such as ASD. One potential etiologic pathway through which the maternal immune system can interfere with neurodevelopment is through maternal autoantibodies that recognize proteins in the developing fetal brain. This mechanism of pathogenesis is now thought to lead to a subphenotype of ASD that has been termed maternal autoantibody related (MAR) ASD. This review provides an overview of the current research implicating the presence of brain-reactive maternal autoantibodies as a risk factor for MAR ASD.
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11. Kanani F, Study D, Balasubramanian M. {{SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature}}. {Clinical dysmorphology}. 2018.
Autism spectrum disorder (ASD) encompasses a spectrum of pervasive neuropsychiatric disorders characterized by deficits in social interaction, communication, unusual and repetitive behaviours. The aetiology of ASD is believed to involve complex interactions between genetic and environmental factors; it can be further classified as syndromic or nonsyndromic, according to whether it is the primary diagnosis or secondary to an existing condition where both common and rare genetic variants contribute to the development of ASD or are clearly causal. The prevalence of ASD in children is increasing with higher rates of diagnosis and an estimated one in 100 affected in the UK. Given that heritability is a major contributing factor, we aim to discuss research findings to-date in the context of a high-risk autism candidate gene, SHANK3 (SH3 and multiple ankyrin repeat domain 3), with its loss resulting in synaptic function disruption. We present a 10-year-old patient with a pathogenic de novo heterozygous c.1231delC, p.Arg411Val frameshift variant in SHANK3. He presented with severe autism, attention deficit hyperactivity disorder and pathological demand avoidance, on a background of developmental impairment and language regression. The number of genes associated with autism is ever increasing. It is a heterogeneous group of disorders with no single gene conferring pathogenesis in the majority of cases. Genetic abnormalities can be detected in ~15% of ASD and these range from copy number variants in 16p11.2 and 15q13.2q13.3 to several well-known genetic disorders including tuberous sclerosis and fragile X syndrome. Further, high confidence autism genes include but are not limited to NRXN, NLGN3, NLGN4, SHANK2 and SHANK3.
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12. Kim K, Kim J, Voight A, Ji M. {{Listening to the screaming whisper: a voice of mother caregivers of children with autistic spectrum disorder (ASD)}}. {International journal of qualitative studies on health and well-being}. 2018; 13(1): 1479585.
PURPOSE: This is a gap in knowledge related to leisure behaviours among mothers who have children with autistic spectrum disorder (ASD). This study intended to understand leisure behaviours associated with leisure constraints among these mother caregivers. METHOD: Using a series of semi- structured interviews, a total of 12 participants engaged in this study. RESULTS: Our findings consisted of two sections: (1) leisure negotiation and (2) leisure constraints which are (a) a lack of time for themselves, (b) constant attention, and (c) difficulty in finding a helper. CONCLUSIONS: This study found that participants modified their leisure patterns as they sought to provide more recreational opportunities for their children. It suggests that participants negotiated their leisure choices and developed family adaptability related to family leisure in order to suit the desires and needs of their child with ASD.
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13. Layne CS, Lee BC, Young DR, Glaze DG, Schwabe A, Suter B. {{Temporal Gait Measures Associated With Overground and Treadmill Walking in Rett Syndrome}}. {Journal of child neurology}. 2018: 883073818780471.
Rett syndrome is a severe neurodevelopmental disorder leading to intellectual impairment and global developmental delays, including difficulty or inability to walk. Assessing differences in temporal parameters and associated variability between overground and treadmill walking is important if gait training is to be incorporated into intervention protocols. Fourteen female patients with Rett syndrome (mean age 10.4 years +/- SD 5.1) were evaluated during overground and treadmill walking. Stride, stance, swing, and double support times, and the variance of these measures, were obtained. Wilcoxon signed-rank tests were used to assess for potential differences between overground and treadmill measures. Treadmill gait resulted in decreases in swing and double support times. When normalized to stride time, treadmill gait displayed an increase in stance time with decreases in swing and double support times. Excepting stance time, treadmill gait resulted in decreased variability, indicating a more regularized gait while walking on the treadmill. These results suggest that treadmill walking can be beneficial for ambulatory patients with Rett syndrome and could be incorporated into a therapeutic protocol designed to maintain the maximum degree of mobility and overall general health as part of a comprehensive health management approach.
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14. Lin CE, Koegel R. {{Treatment for Higher-Order Restricted Repetitive Behaviors (H-RRB) in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Restricted repetitive behaviors (RRB) are one of the core symptoms of autism spectrum disorder (ASD). Evidence suggests that higher-order RRB (H-RRB) are particularly challenging and can negatively impact family functioning (e.g., insistence on sameness, following idiosyncratic routines). The study examined the effects of a parent-implemented behavior intervention using a multiple baseline single case experimental design in three young children with ASD. The intervention involved self-management procedures and included principles of pivotal response treatment during which parents provided bids for children to vary from H-RRB and children obtained points for engaging in these other interests and activities. Results showed improvements in child behavior, parent and child affect and interactions, children’s engagement in family activities, and overall parent ratings of RRB.
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15. Pillion JP, Boatman-Reich D, Gordon B. {{Auditory Brainstem Pathology in Autism Spectrum Disorder: A Review}}. {Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology}. 2018; 31(2): 53-78.
Atypical responses to sound are common in individuals with autism spectrum disorder (ASD), and growing evidence suggests an underlying auditory brainstem pathology. This review of the literature provides a comprehensive account of the structural and functional evidence for auditory brainstem abnormalities in ASD. The studies reviewed were published between 1975 and 2016 and were sourced from multiple online databases. Indices of both the quantity and quality of the studies reviewed are considered. Findings show converging evidence for auditory brainstem pathology in ASD, although the specific functions and anatomical structures involved remain equivocal. Two main trends emerge from the literature: (1) abnormalities occur mainly at higher levels of the auditory brainstem, according to structural imaging and electrophysiology studies; and (2) brainstem abnormalities appear to be more common in younger than older children with ASD. These findings suggest delayed maturation of neural transmission pathways between lower and higher levels of the brainstem and are consistent with the auditory disorders commonly observed in ASD, including atypical sound sensitivity, poor sound localization, and difficulty listening in background noise. Limitations of existing studies are discussed, and recommendations for future research are offered.
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16. Russo L, Craig F, Ruggiero M, Mancuso C, Galluzzi R, Lorenzo A, Fanizza I, Trabacca A. {{Exploring Visual Perspective Taking and body awareness in children with Autism Spectrum Disorder}}. {Cognitive neuropsychiatry}. 2018; 23(4): 254-65.
INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests. RESULTS: Children with ASD or ID were more impaired in body awareness development compared to TD (p < .001) children. The ASD group differentiates largely from the other two groups in the mean VPT (p < .001) scores. CONCLUSIONS: The current study provides a framework for considering social impairments in autism on a broader scale, including visuoperceptual and body awareness difficulties as a core contributor to social interaction difficulties. Lien vers le texte intégral (Open Access ou abonnement)
17. Saadatzi MN, Pennington RC, Welch KC, Graham JH. {{Small-Group Technology-Assisted Instruction: Virtual Teacher and Robot Peer for Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The authors combined virtual reality technology and social robotics to develop a tutoring system that resembled a small-group arrangement. This tutoring system featured a virtual teacher instructing sight words, and included a humanoid robot emulating a peer. The authors used a multiple-probe design across word sets to evaluate the effects of the instructional package on the explicit acquisition and vicarious learning of sight words instructed to three children with autism spectrum disorder (ASD) and the robot peer. Results indicated that participants acquired, maintained, and generalized 100% of the words explicitly instructed to them, made fewer errors while learning the words common between them and the robot peer, and vicariously learned 94% of the words solely instructed to the robot.
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18. Valaparla VL, Sahoo S, Padhy SK. {{Selective mutism in a child with autism spectrum disorder: A case report and an approach to the management in such difficult to treat scenario in children}}. {Asian J Psychiatr}. 2018; 36: 39-41.
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19. Walsh EC, Lee JM, Terzakis K, Zhou DW, Burns S, Buie TM, Firth PG, Shank ES, Houle TT, Brown EN, Purdon PL. {{Age-Dependent Changes in the Propofol-Induced Electroencephalogram in Children With Autism Spectrum Disorder}}. {Frontiers in systems neuroscience}. 2018; 12: 23.
Patients with autism spectrum disorder (ASD) often require sedation or general anesthesia. ASD is thought to arise from deficits in GABAergic signaling leading to abnormal neurodevelopment. We sought to investigate differences in how ASD patients respond to the GABAergic drug propofol by comparing the propofol-induced electroencephalogram (EEG) of ASD and neurotypical (NT) patients. This investigation was a prospective observational study. Continuous 4-channel frontal EEG was recorded during routine anesthetic care of patients undergoing endoscopic procedures between July 1, 2014 and May 1, 2016. Study patients were defined as those with previously diagnosed ASD by DSM-V criteria, aged 2-30 years old. NT patients were defined as those lacking neurological or psychiatric abnormalities, aged 2-30 years old. The primary outcome was changes in propofol-induced alpha (8-13 Hz) and slow (0.1-1 Hz) oscillation power by age. A post hoc analysis was performed to characterize incidence of burst suppression during propofol anesthesia. The primary risk factor of interest was a prior diagnosis of ASD. Outcomes were compared between ASD and NT patients using Bayesian methods. Compared to NT patients, slow oscillation power was initially higher in ASD patients (17.05 vs. 14.20 dB at 2.33 years), but progressively declined with age (11.56 vs. 13.95 dB at 22.5 years). Frontal alpha power was initially lower in ASD patients (17.65 vs. 18.86 dB at 5.42 years) and continued to decline with age (6.37 vs. 11.89 dB at 22.5 years). The incidence of burst suppression was significantly higher in ASD vs. NT patients (23.0% vs. 12.2%, p < 0.01) despite reduced total propofol dosing in ASD patients. Ultimately, we found that ASD patients respond differently to propofol compared to NT patients. A similar pattern of decreased alpha power and increased sensitivity to burst suppression develops in older NT adults; one interpretation of our data could be that ASD patients undergo a form of accelerated neuronal aging in adolescence. Our results suggest that investigations of the propofol-induced EEG in ASD patients may enable insights into the underlying differences in neural circuitry of ASD and yield safer practices for managing patients with ASD. Lien vers le texte intégral (Open Access ou abonnement)
20. Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P, Christodoulou J, Elliott EJ, Leonard H. {{Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population}}. {The Journal of pediatrics}. 2018.
OBJECTIVES: To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality. STUDY DESIGN: We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy. RESULTS: Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted beta = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual’s physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45). CONCLUSION: Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear.
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21. Yap VMZ, McLachlan NM, Scheffer IE, Wilson SJ. {{Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype}}. {J Autism Dev Disord}. 2018.
The present study examined whether the ability to recognize vocal emotional expressions is negatively related to features of the Broader Autism Phenotype (BAP) in the general population. We assessed 61 typically developing adults on a BAP self-report measure (Broader Autism Phenotype Questionnaire) and a purpose-developed online emotion recognition task for efficient delivery of non-linguistic vocal stimuli corresponding to the six basic emotions. Contrary to expectations, we found that higher self-ratings of rigid BAP traits correlated with better recognition accuracy and higher intensity ratings for angry voices. We interpret this anger-specific association as an advantage for enhanced threat detection in the BAP and discuss this finding in the broader context of personality research and interpersonal theory.
