1. Arnold B, Elliott A, Laohamroonvorapongse D, Hanna J, Norvell D, Koh J. {{Autistic children and anesthesia: is their perioperative experience different?}}. {Paediatr Anaesth}. 2015.
BACKGROUND: Children with autism spectrum disorders (ASD) are an increasingly common patient population in the perioperative setting. Children with ASD present with abnormal development in social interaction, communication, and stereotyped patterns of behavior and may be more prone to elevated perioperative anxiety. The perioperative experience for these patients is complex and presents a unique challenge for clinicians. AIM: The aim of the current study was to provide a further understanding of the premedication patterns and perioperative experiences of children with ASD in comparison to children without ASD. METHODS: Using a retrospective cohort study design, medical records were evaluated for patients with and without ASD undergoing general anesthesia for dental rehabilitation from 2006-2011. The following objectives were measured and compared: (i) premedication patterns and (ii) complications, pain, anesthetic type, PACU time, and time to discharge. To compare categorical variables, the chi-square test was used. Bivariate and multivariable analyses were performed to control for potential confounding as a result of baseline differences between the two groups. RESULTS: A total of 121 ASD patients and 881 non-ASD patients were identified. When controlling for age, weight, and gender, children in the ASD group were more likely to have nonstandard premedication types (P < 0.0001), while children without ASD were more likely to have standard premedication types (P < 0.0001). No significant group differences were identified in regards to the other outcome measures. CONCLUSIONS: Other than a significant difference in the premedication type and route, we found that children with ASD seemed to have similar perioperative experiences as non-ASD subjects. It was especially interesting to find that their postoperative period did not pose any special challenges. There is much to be learned about this unique patient population, and a more in-depth prospective evaluation is warranted to help better delineate the best approach to caring for these patients. Lien vers le texte intégral (Open Access ou abonnement)
2. Bennett JA, Germani T, Haqq AM, Zwaigenbaum L. {{Autism spectrum disorder in Prader-Willi syndrome: A systematic review}}. {Am J Med Genet A}. 2015.
Prader-Willi syndrome (PWS) is a rare genetic disorder that results from lack of expression of paternally-derived genes on chromosome 15q11-13; caused by a deletion (DEL), uniparental disomy (UPD), or a rare imprinting center defect. PWS is associated with a distinct behavioral phenotype that in some respects overlaps with autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by restricted or repetitive behaviors (RRBs) and social-communication impairment. The goal of this review was to (i) review published literature investigating core ASD symptoms in PWS and (ii) provide a prevalence estimate of ASD in PWS. Two independent reviewers searched Medline, CINAHL, PsychINFO, Embase, and Web of Science to find studies that answered the research questions. Individuals with PWS demonstrate significant levels of RRBs and social-communication impairment, in some reports reaching similar levels to those of non-PWS ASD comparison groups. Individuals with UPD had more social-communication impairment than those with DEL. Of 786 PWS participants, 210 (26.7%) were reported as meeting criteria for ASD, either based on clinical diagnosis or by exceeding clinical cut-points on relevant ASD symptom measures. In studies that distinguished genetic subtypes, rates of ASD were higher in individuals with PWS with UPD (67 of 190; 35.3%) than those with DEL (47 of 254; 18.5%). Published data on the association of PWS and ASD to date are limited to sample means of 8 years of age and older. Further research is needed to identify early markers of ASD in PWS children, to support earlier diagnosis and intervention for this important comorbidity. (c) 2015 Wiley Periodicals, Inc.
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3. Chen SW, Zhong XS, Jiang LN, Zheng XY, Xiong YQ, Ma SJ, Qiu M, Huo ST, Ge J, Chen Q. {{Maternal autoimmune diseases and the risk of autism spectrum disorders in offspring: a systematic review and meta-analysis}}. {Behav Brain Res}. 2015.
Although inherited and immune disorder factors are known to be involved in autism spectrum disorders (ASD), controversy still exists as to whether maternal autoimmune disease is an independent risk of ASD in offspring. We aimed to quantitatively summarize the risk of ASD in offspring in relation to maternal autoimmune diseases. A literature search in Pubmed, Web of science, Embase, and China national knowledge internet was conducted to identify relevant studies. Pooled odd ratio (OR) and its 95% confidence interval (CI) were computed by STATA version 12.0. Nine case-control studies and one cohort studies comprising 9775 cases and 952,211 controls were included in this study. A positive association between maternal autoimmune diseases and the risk of ASD in offspring was identified assuming a fixed effect model (pooled OR, 1.34; 95%CI, 1.23-1.46; I2, 27.9%). There were statistically significant associations between maternal autoimmune diseases developed during pregnancy or maternal thyroid disease and the risk of ASD in offspring (pooled OR, 1.30, 1.29, respectively). Maternal autoimmune disease is likely to be an independent risk factor of ASD in offspring.
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4. Germain B, Eppinger MA, Mostofsky SH, DiCicco-Bloom E, Maria BL. {{Recent Advances in Understanding and Managing Autism Spectrum Disorders}}. {J Child Neurol}. 2015.
Autism spectrum disorder in children is a group of neurodevelopmental disorders characterized by difficulties with social communication and behavior. Growing scientific evidence in addition to clinical practice has led the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) to categorize several disorders into the broader category of autism spectrum disorder. As more is learned about how autism spectrum disorder manifests, progress has been made toward better clinical management including earlier diagnosis, care, and when specific interventions are required. The 2014 Neurobiology of Disease in Children symposium, held in conjunction with the 43rd annual meeting of the Child Neurology Society, aimed to (1) describe the clinical concerns involving diagnosis and treatment, (2) review the current status of understanding in the pathogenesis of autism spectrum disorder, (3) discuss clinical management and therapies for autism spectrum disorder, and (4) define future directions of research. The article summarizes the presentations and includes an edited transcript of question-and-answer sessions.
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5. LeBlanc JJ, DeGregorio G, Centofante E, Vogel-Farley VK, Barnes K, Kaufmann WE, Fagiolini M, Nelson CA. {{Visual evoked potentials detect cortical processing deficits in Rett syndrome}}. {Ann Neurol}. 2015.
OBJECTIVE: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation of the X-linked MECP2 gene and characterized by developmental regression during the first few years of life. The objective of this study was to investigate if the visual evoked potential (VEP) could be used as an unbiased, quantitative biomarker to monitor brain function in RTT. METHODS: We recorded pattern-reversal VEPs in Mecp2 heterozygous female mice and 34 girls with RTT. The amplitudes and latencies of VEP waveform components were quantified, and were related to disease stage, clinical severity, and MECP2 mutation type in patients. Visual acuity was also assessed in both mice and patients by modulating the spatial frequency of the stimuli. RESULTS: Mecp2 heterozygous female mice and RTT patients exhibited a similar decrease in VEP amplitude that was most striking in the later stages of the disorder. RTT patients also displayed a slower recovery from the principal peak of the VEP response that was impacted by MECP2 mutation type. When the spatial frequency of the stimulus was increased, both patients and mice displayed a deficit in discriminating smaller patterns, indicating lower visual spatial acuity in RTT. INTERPRETATION: VEP is a method that can be used to assess brain function across species and in children with severe disabilities like RTT. Our findings support the introduction of standardized VEP analysis in clinical and research settings to probe the neurobiological mechanism underlying functional impairment and to longitudinally monitor progression of the disorder and response to treatment. This article is protected by copyright. All rights reserved.
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6. Lever AG, Geurts HM. {{Age-related differences in cognition across the adult lifespan in autism spectrum disorder}}. {Autism Res}. 2015.
It is largely unknown how age impacts cognition in autism spectrum disorder (ASD). We investigated whether age-related cognitive differences are similar, reduced or increased across the adult lifespan, examined cognitive strengths and weaknesses, and explored whether objective test performance is related to subjective cognitive challenges. Neuropsychological tests assessing visual and verbal memory, generativity, and theory of mind (ToM), and a self-report measure assessing cognitive failures were administered to 236 matched participants with and without ASD, aged 20-79 years (IQ > 80). Group comparisons revealed that individuals with ASD had higher scores on visual memory, lower scores on generativity and ToM, and similar performance on verbal memory. However, ToM impairments were no longer present in older (50+ years) adults with ASD. Across adulthood, individuals with ASD demonstrated similar age-related effects on verbal memory, generativity, and ToM, while age-related differences were reduced on visual memory. Although adults with ASD reported many cognitive failures, those were not associated with neuropsychological test performance. Hence, while some cognitive abilities (visual and verbal memory) and difficulties (generativity and semantic memory) persist across adulthood in ASD, others become less apparent in old age (ToM). Age-related differences characteristic of typical aging are reduced or parallel, but not increased in individuals with ASD, suggesting that ASD may partially protect against an age-related decrease in cognitive functioning. Despite these findings, adults with ASD experience many cognitive daily challenges, which highlights the need for adequate social support and the importance of further research into this topic, including longitudinal studies. Autism Res. 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Maruani A, Huguet G, Beggiato A, ElMaleh M, Toro R, Leblond CS, Mathieu A, Amsellem F, Lemiere N, Verloes A, Leboyer M, Gillberg C, Bourgeron T, Delorme R. {{11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures}}. {Am J Med Genet A}. 2015.
Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions of 11q24.2-25, but the causative genes remain unknown. Within the critical interval, we hypothesized that haploinsufficiency of the neuronal cell adhesion molecule Neurotrimin (NTM) might increase the risk for ASD and could affect brain structure volumes. We searched for deleterious mutations affecting NTM in 1256 ASD patients and 1287 controls, using SNP arrays, and by direct sequencing of 250 ASD patients and 180 controls. We compared our results to those obtained from independent cohorts of ASD patients and controls. We identified two patients with Copy Number Variants (CNV) encompassing NTM, one with a large de novo deletion, and a clinical phenotype of JS (including macrocephaly), and a second with a paternally inherited duplication, not consistent with JS. Interestingly, no similar CNVs were observed in controls. We did not observe enrichment for deleterious NTM mutations in our cohort. We then explored if the macrocephaly in the patient with JS was associated with a homogeneous increase of brain structures volumes using automatic segmentation. Compared to subjects without NTM micro-rearrangements (n=188), the patient had an increased volume of the sub-cortical structures but a decrease of the occipital gray matter. Finally our explorations could not incriminate NTM as a susceptibility gene for ASD, but provides new information on the impact of the 11q24.2-25 deletion on brain anatomy. (c) 2015 Wiley Periodicals, Inc.
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8. Moricke E, Buitelaar JK, Rommelse NN. {{Do We Need Multiple Informants When Assessing Autistic Traits? The Degree of Report Bias on Offspring, Self, and Spouse Ratings}}. {J Autism Dev Disord}. 2015.
This study focused on the degree of report bias in assessing autistic traits. Both parents of 124 preschoolers completed the Social Communication Questionnaire and the Autism-spectrum Quotient. Acceptable agreement existed between mother and father reports of children’s mean scores of autistic traits, but interrater reliability for rank-order correlations was only fair. No evidence was found for report bias regarding parent-offspring autistic traits. However, adult autistic ratings were strongly biased: spouse-ratings were higher than self-ratings, correlations were only fair when both parents reported about the same person, and resemblance was higher for reports from the same person than for spouses’ separate self-reports. It is advisable to involve multiple informants when assessing autistic traits, and to use procedural and/or statistical remedies to control for report bias.
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9. Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A. {{Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion}}. {Am J Med Genet A}. 2015.
In recent years, the advent of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays and its use as a first genetic test for the diagnosis of patients with neurodevelopmental phenotypes has allowed the identification of novel submicroscopic chromosomal abnormalities (namely, copy number variants or CNVs), imperceptible by conventional cytogenetic techniques. The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination (NAHR) mediated by flanking human endogenous retrovirus (HERV-H) elements has been suggested as the mechanism of deletion formation. We expand the phenotypic spectrum associated with this recurrent deletion performing the clinical description of a 9-year-old female patient with autistic disorder, total absence of language, intellectual disability, anxiety disorder and disruptive, and compulsive eating behaviors. The array-based molecular karyotyping allowed the identification of a de novo recurrent 3q13.2-q13.31 deletion encompassing 25 genes. In addition, we compare her clinical phenotype with previous reports of patients with neurodevelopmental and behavioral disorders and proximal 3q microdeletions. Finally, we also review the candidate genes proposed so far for these phenotypes. (c) 2015 Wiley Periodicals, Inc.
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10. Rankin JA, Weber RJ, Kang E, Lerner MD. {{Parent- and Self-Reported Social Skills Importance in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
While social skills are commonly assessed in autism spectrum disorder (ASD), little is known about individuals’ and families’ beliefs regarding importance of these skills. Seventy-four parents and their children with ASD rated social skills importance and severity, as well as ASD-specific deficit severity. Parents and youth rated social skills as important overall; however, parents reported assertion and self-control to be more important than their children did. Severity and importance did not correlate overall. However, parent-report of responsibility deficits and importance were positively correlated, while youth-report of assertiveness deficits and importance were negatively correlated. Finally, ASD-specific social deficits were positively correlated with parent reported importance, but negatively correlated with child reported importance. Social skills importance ratings merit consideration in ASD assessment.
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11. Richter J, Henze R, Vomstein K, Stieltjes B, Parzer P, Haffner J, Brandeis D, Poustka L. {{Reduced cortical thickness and its association with social reactivity in children with autism spectrum disorder}}. {Psychiatry Res}. 2015.
Symptomatology and behavioral characteristics in autism spectrum disorders (ASD) have increasingly been linked to abnormalities in early brain growth patterns of affected children. Studies investigating specific components of gray matter structure, such as cortical thickness (CT), have produced conflicting results, and have rarely included additional measures of social impairment. In the present study, we applied a surface-based whole brain analysis to investigate CT in a sample of 36 pre-adolescent children [18 subjects with ASD (IQ mean: 111) and 18 healthy controls (IQ mean: 112.8), age range 6-12 years]. The CT analysis revealed widespread, but mostly left-hemispheric thinning in frontal, temporal, parietal and occipital brain areas related to the theory-of-mind network and the heteromodal association cortex. In an exploratory analysis, CT was observed to be differently associated with social impairment in children with ASD compared with typically developing children. The affected neuroanatomical regions are related to characteristic deficits in language, cognition and behavior that are often observed in the disorder. The relationship between social impairment and CT in children with ASD and controls seems to indicate aberrant developmental trajectories in ASD emerging early in life.
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12. Ruzich E, Allison C, Smith P, Watson P, Auyeung B, Ring H, Baron-Cohen S. {{Subgrouping siblings of people with autism: Identifying the broader autism phenotype}}. {Autism Res}. 2015.
We investigate the broader autism phenotype (BAP) in siblings of individuals with autism spectrum conditions (ASC). Autistic traits were measured in typical controls (n = 2,000), siblings (n = 496), and volunteers with ASC (n = 2,322) using the Autism-Spectrum Quotient (AQ), both self-report and parent-report versions. Using cluster analysis of AQ subscale scores, two sibling subgroups were identified for both males and females: a cluster of low-scorers and a cluster of high-scorers. Results show that while siblings as a group have intermediate levels of autistic traits compared to control individuals and participants with ASC, when examined on a cluster level, the low-scoring sibling group is more similar to typical controls while the high-scoring group is more similar to the ASC clinical group. Further investigation into the underlying genetic and epigenetic characteristics of these two subgroups will be informative in understanding autistic traits, both within the general population and in relation to those with a clinical diagnosis. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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13. Say GN, Karabekiroglu K, Babadagi Z, Yuce M. {{Maternal stress and perinatal features in autism & attention deficit/ hyperactivity disorder}}. {Pediatr Int}. 2015.
BACKGROUND: We aimed to explore the shared and non-shared perinatal risk factors for autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD) in a clinical sample. Additionally, we aimed to compare these groups regarding pre/postpartum maternal stress and the duration of breastfeeding. METHODS: Children aged 3-18 years old with ASD (n = 100) were compared with age and gender matched children with ADHD (n = 100) and age and gender matched healthy controls (n = 80). RESULTS: This study revealed prematurity of the neonate and maternal stress/depressive mood in pregnancy as common risk factors shared by ASD and ADHD. The results suggested that postpartum maternal depressive mood may be more specific to ASD while shorter duration of breastfeeding may be related to ADHD. CONCLUSIONS: The results of this study revealed that ASD and ADHD may share some perinatal features in common. Identification of perinatal factors for ASD and ADHD carries clinical implications in terms of primary prevention.
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14. Simmons ES, Paul R, Shic F. {{Brief Report: A Mobile Application to Treat Prosodic Deficits in Autism Spectrum Disorder and Other Communication Impairments: A Pilot Study}}. {J Autism Dev Disord}. 2015.
This study examined the acceptability of a mobile application, SpeechPrompts, designed to treat prosodic disorders in children with ASD and other communication impairments. Ten speech-language pathologists (SLPs) in public schools and 40 of their students, 5-19 years with prosody deficits participated. Students received treatment with the software over eight weeks. Pre- and post-treatment speech samples and student engagement data were collected. Feedback on the utility of the software was also obtained. SLPs implemented the software with their students in an authentic education setting. Student engagement ratings indicated students’ attention to the software was maintained during treatment. Although more testing is warranted, post-treatment prosody ratings suggest that SpeechPrompts has potential to be a useful tool in the treatment of prosodic disorders.
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15. Solomon O, Angell AM, Yin L, Lawlor MC. {{« You Can Turn off the Light If You’d Like »: Pediatric Health Care Visits for Children with Autism Spectrum Disorder as an Interactional Achievement}}. {Med Anthropol Q}. 2015.
Substantial scholarship has been generated in medical anthropology and other social science fields on typically developing child-parent-doctor interactions during health care visits. This article contributes an ethnographic, longitudinal, discourse analytic account of a child with autism spectrum disorder (ASD)-parent-doctor interactions that occur during pediatric and neurology visits. The analysis shows that when a child with ASD walks into the doctor’s office, the tacit expectations about the visit may have to be renegotiated to facilitate the child’s, the parent’s and the doctor’s participation in the interaction. A successful visit then becomes a hard-won achievement that requires the interactional and relational work of all three participants. We demonstrate that communicative and sensory limitations imposed by ASD present unique challenges to all the participants and consider how health care disparities may invade the pediatric encounter, making visible the structural and interactional processes that engender them. This article is protected by copyright. All rights reserved.
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16. Tonacci A, Billeci L, Tartarisco G, Ruta L, Muratori F, Pioggia G, Gangemi S. {{Olfaction in autism spectrum disorders: A systematic review}}. {Child Neuropsychol}. 2015: 1-25.
Olfactory function is a well-known early biomarker for neurodegeneration and neural functioning in the adult population, being supported by a number of brain structures that could be dysfunctioning in neurodegenerative processes. Evidence has suggested that atypical sensory and, particularly, olfactory processing is present in several neurodevelopmental conditions, including autism spectrum disorders (ASDs). In this paper, we present data obtained by a systematic literature review, conducted according to PRISMA guidelines, regarding the possible association between olfaction and ASDs, and analyze them critically in order to evaluate the occurrence of olfactory impairment in ASDs, as well as the possible usefulness of olfactory evaluation in such conditions. The results obtained in this analysis suggested a possible involvement of olfactory impairment in ASDs, underlining the importance of olfactory evaluation in the clinical assessment of ASDs. This assessment could be potentially included as a complementary evaluation in the diagnostic protocol of the condition. Methods for study selection and inclusion criteria were specified in advance and documented in PROSPERO protocol #CRD42014013939.
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17. Wang L, Almeida LE, Spornick NA, Kenyon N, Kamimura S, Khaibullina A, Nouraie M, Quezado ZM. {{Modulation of social deficits and repetitive behaviors in a mouse model of autism: the role of the nicotinic cholinergic system}}. {Psychopharmacology (Berl)}. 2015.
RATIONALE: Accumulating evidence implicates the nicotinic cholinergic system in autism spectrum disorder (ASD) pathobiology. Neuropathologic studies suggest that nicotinic acetylcholine (ACh) receptor (nAChR) subtypes are altered in brain of autistic individuals. In addition, strategies that increase ACh, the neurotransmitter for nicotinic and muscarinic receptors, appear to improve cognitive deficits in neuropsychiatric disorders and ASD. OBJECTIVE: The aim of this study is to examine the role of the nicotinic cholinergic system on social and repetitive behavior abnormalities and exploratory physical activity in a well-studied model of autism, the BTBR T+ Itpr3 tf /J (BTBR) mouse. METHODS: Using a protocol known to up-regulate expression of brain nAChR subtypes, we measured behavior outcomes before and after BTBR and C57BL/6J (B6) mice were treated (4 weeks) with vehicle or nicotine (50, 100, 200, or 400 mug/ml). RESULTS: Increasing nicotine doses were associated with decreases in water intake, increases in plasma cotinine levels, and at the higher dose (400 mug/ml) with weight loss in BTBR mice. At lower (50, 100 mug/ml) but not higher (200, 400 mug/ml) doses, nicotine increased social interactions in BTBR and B6 mice and at higher, but not lower doses, it decreased repetitive behavior in BTBR. In the open-field test, nicotine at 200 and 400 mug/ml, but not 100 mug/ml compared with vehicle, decreased overall physical activity in BTBR mice. CONCLUSIONS: These findings support the hypotheses that the nicotinic cholinergic system modulates social and repetitive behaviors and may be a therapeutic target to treat behavior deficits in ASD. Further, the BTBR mouse may be valuable for investigations of the role of nAChRs in social deficits and repetitive behavior.
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18. Williams K. {{Timely identification of children with autism: are we asking the right question?}}. {Dev Med Child Neurol}. 2015.
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19. Zerbo O, Massolo ML, Qian Y, Croen LA. {{A Study of Physician Knowledge and Experience with Autism in Adults in a Large Integrated Healthcare System}}. {J Autism Dev Disord}. 2015.
We conducted an online survey of adult health care providers at Kaiser Permanente Northern California and semi-structured interviews with a subset of physicians. The survey assessed providers’ ability to recognize autism spectrum disorder (ASD), asked them to rate their autism knowledge, comfort level in treating affected patients, and evaluated training and resource needs. 922 providers completed the survey (response rate 25.3 %), and 9 were interviewed by telephone regarding their autism training and experiences caring for patients with autism. Most providers reported lacking skills and tools to care for this adult patient population. A high proportion of adult providers were not aware that they had patients with ASD. These findings underscore the need to educate physicians caring for adults with ASD.
