1. {{Neurodevelopmental disorders: New brain imaging measure for early diagnosis of autism}}. {Nat Rev Neurol};2013 (Jul 23)
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2. Ben-Itzchak E, Ben-Shachar S, Zachor DA. {{Specific Neurological Phenotypes in Autism Spectrum Disorders Are Associated with Sex Representation}}. {Autism Res};2013 (Jul 19)
Autism spectrum disorder (ASD) is a heritable disorder occurring predominantly in males. The aim of this study was to compare sex differences in the prevalence of specific neurological phenotypes commonly described in ASD. The study included 663 participants, aged 18 months to 15 years, diagnosed with ASD. Neurological and behavioral assessments were performed using standardized tests, and obtaining medical, developmental, and familial histories from the parents. Phenotypes under investigation were macro- and microcephaly, developmental regression, minor neurological and musculoskeletal deficits (MNMD), and seizures. Male : female ratio in the ASD group was 6.7:1. No sex differences in autism severity, cognitive ability, and adaptive functioning were noted. Mean head circumference percentile for males (50.1 +/- 25.6) was significantly larger than females (43.4 +/- 30.2). Micro- and macrocephaly were more frequent in ASD than expected (5.9%; 18.1%, respectively). Microcephaly in females (15.1%) was significantly more prevalent than in males (4.5%). The prevalence of macrocephaly in both sexes did not differ significantly. Regression was noted in 30.2% of the females with ASD, significantly higher than in males (18.9%). MNMD was documented in 73.8% of the females, significantly higher than in males (57.1%). M:F ratio decreased in a group with two or more phenotypes (3.6:1), while male predominance was more significant in the group without phenotypes (13.6:1). Neurological phenotypes associated with ASD are more prevalent in females than in males, resulting in more complex clinical and neurological manifestations in females. Therefore, involvement of different etiologies is suggested in ASD in females. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Braddock BA, Pickett C, Ezzelgot J, Sheth S, Korte-Stroff E, Loncke F, Bock L. {{Potential communicative acts in children with autism spectrum disorders}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To describe potential communicative acts in a sample of 17 children with autism spectrum disorders who produced few to no intelligible words (mean age = 32.82 months). Methods: Parents reported on children’s potential communicative acts for 10 different communicative functions. A potential communicative act was defined as any behavior produced by an individual that may be interpreted by others to serve a communicative purpose. Results: Significant associations were found between higher number of gesture types and increased scores on language comprehension, language expression, and non-verbal thinking measures. Relative to other types of potential communicative acts, parents reported that children used higher proportions of body movement. Conclusion: Number of body movement types was not related to child ability, while number of gesture types was related to receptive and expressive language. Findings underscore the link between language and gesture, and offer support for an ecological systems perspective of language learning.
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4. Campbell DJ, Shic F, Macari S, Chawarska K. {{Gaze Response to Dyadic Bids at 2 Years Related to Outcomes at 3 Years in Autism Spectrum Disorders: A Subtyping Analysis}}. {J Autism Dev Disord};2013 (Jul 23)
Variability in attention towards direct gaze and child-directed speech may contribute to heterogeneity of clinical presentation in toddlers with autism spectrum disorders (ASD). To evaluate this hypothesis, we clustered sixty-five 20-month-old toddlers with ASD based on their visual responses to dyadic cues for engagement, identifying three subgroups. Subsequently, we compared social, language, and adaptive functioning of these subgroups at 3 years of age. The cluster displaying limited attention to social scenes in general exhibited poor outcome at 3 years; the cluster displaying good attention to the scene and to the speaker’s mouth was verbal and high functioning at 3 years. Analysis of visual responses to dyadic cues may provide a clinically meaningful approach to identifying early predictors of outcome.
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5. Cassimos DC, Polychronopoulou SA, Tripsianis GI, Syriopoulou-Delli CK. {{Views and attitudes of teachers on the educational integration of students with autism spectrum disorders}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objectives: To investigate the views and attitudes of Greek teachers on educational and vocational integration of students with autism spectrum disorders (ASD). Methods: A statistically reliable sample of questionnaires distributed towards a diversified teacher population is evaluated. The mean values of teachers’ responses are analyzed with respect to critical independent variables: previous relevant training; and/or experience. Results: The majority of the sample had a positive view towards the educational and vocational integration of students with ASD. Nevertheless, teachers appear to be sceptical in assuming that these students can be efficiently treated in their classroom. The vast majority of teachers maintain that students with ASD can be trained in technical vocation. However, the absence of support services is highly ranked as the most serious constraint for vocational integration. Conclusion: Training and experience substantially influenced teachers’ views and attitudes in a positive way towards the integration of students with ASD.
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6. Castro S, Ferreira T, Dababnah S, Pinto AI. {{Linking autism measures with the ICF-CY: Functionality beyond the borders of diagnosis and interrater agreement issues}}. {Dev Neurorehabil};2013 (Jul 19)
Purpose: This study aims to: (1) link measurements used in the diagnosis of children with autism spectrum disorders (ASDs) with the International Classification of Functioning, Disability and Health – Children and Youth Version (ICF-CY) and (2) analyse issues relating with interrater agreement within this process. Method: Three instruments for ASD diagnosis were linked with the ICF-CY using deductive content analysis. Results: Correspondences between items’ content and ICF-CY dimensions were identified for all ICF-CY components, except for environmental factors. Interrater agreement varied with the content of the units analyzed. Conclusion: The linkage between the ICF-CY and the analyzed measures provides a way to document assessment-intervention outcomes using a common language, as well as to integrate diagnostic and functional data. Diagnostic measurements provide functional information beyond the diagnostic criteria defined for autism. A functional perspective is added to diagnostic outcomes, thus better informing educational and rehabilitation practices for children with ASD.
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7. Chan AS, Sze SL, Siu NY, Lau EM, Cheung MC. {{A chinese mind-body exercise improves self-control of children with autism: a randomized controlled trial}}. {PLoS One};2013;8(7):e68184.
Self-control problems commonly manifest as temper outbursts and repetitive/rigid/impulsive behaviors, in children with autism spectrum disorders (ASD), which often contributes to learning difficulties and caregiver burden. The present study aims to compare the effect of a traditional Chinese Chan-based mind-body exercise, Nei Yang Gong, with that of the conventional Progressive Muscle Relaxation (PMR) technique in enhancing the self-control of children with ASD. Forty-six age- and IQ-matched ASD children were randomly assigned to receive group training in Nei Yang Gong (experimental group) or PMR (control group) twice per week for four weeks. The participants’ self-control was measured by three neuropsychological tests and parental rating on standardized questionnaires, and the underlying neural mechanism was assessed by the participants’ brain EEG activity during an inhibitory-control task before and after intervention. The results show that the experimental group demonstrated significantly greater improvement in self-control than the control group, which concurs with the parental reports of reduced autistic symptoms and increased control of temper and behaviors. In addition, the experimental group showed enhanced EEG activity in the anterior cingulate cortex, a region that mediates self-control, whereas the PMR group did not. The present findings support the potential application of Chinese Chan-based mind-body exercises as a form of neuropsychological rehabilitation for patients with self-control problems. Chinese Clinical Trial Registry; Registration No.: ChiCTR-TRC-12002561; URL: www.chictr.org.
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8. Dardas LA, Ahmad MM. {{Coping Strategies as Mediators and Moderators between Stress and Quality of Life among Parents of Children with Autistic Disorder}}. {Stress Health};2013 (Jul 19)
The purpose of this cross-sectional study was to examine coping strategies as mediators and moderators between stress and quality of life (QoL) among parents of children with autistic disorder. The convenience sample of the study consisted of 184 parents of children with autistic disorder. Advanced statistical methods for analyses of mediator and moderator effects of coping strategies were used. The results revealed that ‘accepting responsibility’ was the only mediator strategy in the relationship between stress and QoL. The results also revealed that only ‘seeking social support’ and ‘escape avoidance’ were moderator strategies in the relationship between stress and QoL. This study is perhaps the first to investigate the mediating and moderating effects of coping on QoL of parents of children with autistic disorder. Recommendations for practice and future research are presented. Copyright (c) 2013 John Wiley & Sons, Ltd.
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9. Downs J, Parkinson S, Ranelli S, Leonard H, Diener P, Lotan M. {{Perspectives on hand function in girls and women with Rett syndrome}}. {Dev Neurorehabil};2013 (Jul 19)
Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment. Results: There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning. Conclusion: Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning.
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10. Farach A, Farach LS, Paulino AC. {{Therapeutic challenges in treating patients with fragile X syndrome and neoplasia}}. {Pediatr Blood Cancer};2013 (Jul 20)
The administration of cytotoxic therapy to patients with fragile X syndrome (FXS) presents several unique therapeutic challenges. The existence of fragile sites poses a theoretical risk of tumorigenesis and potentially increased treatment associated toxicity, however, controversy exists. We review the 42 previously reported cases of neoplasia in patients with FXS and report two novel neoplasms in patients treated with radiation therapy or combined chemoradiation. Our experience suggests that radiation therapy can be delivered safely in these patients without an expectation for increased acute/sub-acute normal tissue toxicity; however, treatment requires specialized facilities with the resources to deliver this care safely. Pediatr Blood Cancer (c) 2013 Wiley Periodicals, Inc.
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11. Gesundheit B, Rosenzweig JP, Naor D, Lerer B, Zachor DA, Prochazka V, Melamed M, Kristt DA, Steinberg A, Shulman C, Hwang P, Koren G, Walfisch A, Passweg JR, Snowden JA, Tamouza R, Leboyer M, Farge-Bancel D, Ashwood P. {{Immunological and autoimmune considerations of Autism Spectrum Disorders}}. {J Autoimmun};2013 (Jul 15)
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental conditions presenting in early childhood with a prevalence ranging from 0.7% to 2.64%. Social interaction and communication skills are impaired and children often present with unusual repetitive behavior. The condition persists for life with major implications for the individual, the family and the entire health care system. While the etiology of ASD remains unknown, various clues suggest a possible association with altered immune responses and ASD. Inflammation in the brain and CNS has been reported by several groups with notable microglia activation and increased cytokine production in postmortem brain specimens of young and old individuals with ASD. Moreover several laboratories have isolated distinctive brain and CNS reactive antibodies from individuals with ASD. Large population based epidemiological studies have established a correlation between ASD and a family history of autoimmune diseases, associations with MHC complex haplotypes, and abnormal levels of various inflammatory cytokines and immunological markers in the blood. In addition, there is evidence that antibodies that are only present in some mothers of children with ASD bind to fetal brain proteins and may be a marker or risk factor for ASD. Studies involving the injection of these ASD specific maternal serum antibodies into pregnant mice during gestation, or gestational exposure of Rhesus monkeys to IgG subclass of these antibodies, have consistently elicited behavioral changes in offspring that have relevance to ASD. We will summarize the various types of studies associating ASD with the immune system, critically evaluate the quality of these studies, and attempt to integrate them in a way that clarifies the areas of immune and autoimmune phenomena in ASD research that will be important indicators for future research.
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12. Gotts SJ, Saad ZS, Jo HJ, Wallace GL, Cox RW, Martin A. {{The perils of global signal regression for group comparisons: a case study of Autism Spectrum Disorders}}. {Front Hum Neurosci};2013;7:356.
We have previously argued from a theoretical basis that the standard practice of regression of the Global Signal from the fMRI time series in functional connectivity studies is ill advised, particularly when comparing groups of participants. Here, we demonstrate in resting-state data from participants with an Autism Spectrum Disorder and matched controls that these concerns are also well founded in real data. Using the prior theoretical work to formulate predictions, we show: (1) rather than simply altering the mean or range of correlation values amongst pairs of brain regions, Global Signal Regression systematically alters the rank ordering of values in addition to introducing negative values, (2) it leads to a reversal in the direction of group correlation differences relative to other preprocessing approaches, with a higher incidence of both long-range and local correlation differences that favor the Autism Spectrum Disorder group, (3) the strongest group differences under other preprocessing approaches are the ones most altered by Global Signal Regression, and (4) locations showing group differences no longer agree with those showing correlations with behavioral symptoms within the Autism Spectrum Disorder group. The correlation matrices of both participant groups under Global Signal Regression were well predicted by our previous mathematical analyses, demonstrating that there is nothing mysterious about these results. Finally, when independent physiological nuisance measures are lacking, we provide a simple alternative approach for assessing and lessening the influence of global correlations on group comparisons that replicates our previous findings. While this alternative performs less well for symptom correlations than our favored preprocessing approach that includes removal of independent physiological measures, it is preferable to the use of Global Signal Regression, which prevents unequivocal conclusions about the direction or location of group differences.
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13. Gunn KS, Trembath D, Hudry K. {{An examination of interactions among children with autism and their typically developing peers}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To determine whether pre-school children with Autism Spectrum Disorders (ASD) interact differently with their peers with ASD compared to their typically developing (TD) peers, across three activities (free play, structured group time and semi-structured play) in an early intervention setting. Methods: We completed a series of non-experimental case studies involving 13 children with ASD and two TD peers. Results: We found trends, but no uniform differences, in the frequency or quality of means by which the children with ASD interacted with one another versus with their TD peers across the three contexts. The children with ASD interacted with both peer types more frequently during the semi-structured and structured activities, than during free play. Conclusions: The children with ASD showed no clear bias towards one peer type over the other. Semi-structured activities may be the best context in which to facilitate peer interactions involving children with ASD in early intervention settings.
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14. Hagberg BS, Nyden A, Cederlund M, Gillberg C. {{Asperger syndrome and « non-verbal learning problems » in a longitudinal perspective: Neuropsychological and social adaptive outcome in early adult life}}. {Psychiatry Res};2013 (Jul 18)
Co-existence of Asperger syndrome (AS) and non-verbal learning disability (NLD) has been proposed based on the observation that people with AS tend to have significantly higher verbal than performance IQ (VIQ>PIQ by >/=15 points), one of the core features of NLD. In the present study we examined neuropsychological and social adaptive profiles with « non-verbal learning problems » associated with NLD in a group of individuals with AS followed from childhood into early adult life. The group was divided into three subgroups: (i) persistent NLD (P-NLD), i.e. NLD (VIQ>PIQ) both in childhood and early adulthood occasions, (ii) childhood NLD (CO-NLD), i.e. NLD (VIQ>PIQ) only at original diagnosis, or (iii) No NLD (VIQ>PIQ) ever (NO-NLD). All three subgroups were followed prospectively from childhood into adolescence and young adult life. One in four to one in five of the whole group of males with AS had P-NLD. The P-NLD subgroup had poorer neuropsychological outcome in early adult life than did those with CO-NLD and those with NO-NLD. There were no unequivocal markers in early childhood that predicted subgroup status in early adult life, but early motor delay and a history of early speech-language problems tended to be associated with P-NLD.
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15. Hagerman R, Hagerman P. {{Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome}}. {Lancet Neurol};2013 (Aug);12(8):786-798.
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element. Smaller, so-called premutation expansions (55-200 repeats) can cause a family of neurodevelopmental phenotypes (attention deficit hyperactivity disorder, autism spectrum disorder, seizure disorder) and neurodegenerative (fragile X-associated tremor/ataxia syndrome [FXTAS]) phenotypes through an entirely distinct molecular mechanism involving increased FMR1 mRNA production and toxicity. Results of basic cellular, animal, and human studies have helped to elucidate the underlying RNA toxicity mechanism, while clinical research is providing a more nuanced picture of the range of clinical manifestations. Advances of knowledge on both mechanistic and clinical fronts are driving new approaches to targeted treatment, but two important necessities are emerging: to define the extent to which the mechanisms contributing to FXTAS also contribute to other neurodegenerative and medical disorders, and to redefine FXTAS in view of its differing presentations and associated features.
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16. Horovitz M, Matson JL. {{The baby and infant screen for children with autism traits-part 2: The development of age-based cutoffs}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To create age-based scoring procedures for the BISCUIT-Part 2, an assessment measure of comorbid psychopathology in infants and toddlers aged 17-37 months. Method: The standard deviation from the mean method was used to develop separate age-based cutoffs for those with an autism spectrum disorder (ASD) and those with non-ASD related developmental delays, using a sample of 2867 infants and toddlers and their parents. Results: As age increased in those with ASD, higher cutoff scores were indicated. Less variation was seen in the cutoff scores established for those with non-ASD related delays. Conclusion: The findings suggest that as children with ASD grow older, symptoms of comorbidity become more prevalent and easier to detect. The implications of these results, as well as possible areas of future research, are discussed.
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17. Johnson BP, Rinehart NJ, White O, Millist L, Fielding J. {{Saccade adaptation in autism and Asperger’s disorder}}. {Neuroscience};2013 (Jul 23);243:76-87.
Autism and Asperger’s disorder (AD) are neurodevelopmental disorders primarily characterized by deficits in social interaction and communication, however motor coordination deficits are increasingly recognized as a prevalent feature of these conditions. Although it has been proposed that children with autism and AD may have difficulty utilizing visual feedback during motor learning tasks, this has not been directly examined. Significantly, changes within the cerebellum, which is implicated in motor learning, are known to be more pronounced in autism compared to AD. We used the classic double-step saccade adaptation paradigm, known to depend on cerebellar integrity, to investigate differences in motor learning and the use of visual feedback in children aged 9-14 years with high-functioning autism (HFA; IQ>80; n=10) and AD (n=13). Performance was compared to age and IQ matched typically developing children (n=12). Both HFA and AD groups successfully adapted the gain of their saccades in response to perceived visual error, however the time course for adaptation was prolonged in the HFA group. While a shift in saccade dynamics typically occurs during adaptation, we revealed aberrant changes in both HFA and AD groups. This study contributes to a growing body of evidence centrally implicating the cerebellum in ocular motor dysfunction in autism. Specifically, these findings collectively imply functional impairment of the cerebellar network and its inflow and outflow tracts that underpin saccade adaptation, with greater disturbance in HFA compared to AD.
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18. Joseph L, Thurm A, Farmer C, Shumway S. {{Repetitive Behavior and Restricted Interests in Young Children with Autism: Comparisons with Controls and Stability Over 2 Years}}. {Autism Res};2013 (Jul 18)
Restricted, repetitive and stereotyped patterns of behavior, interests and activities [RRBs] are among the core symptoms of autism spectrum disorders (ASD). Previous studies have indicated that RRBs differentiate ASD from other developmental disorders and from typical development. This study examined the presentation of RRBs as reported on the Repetitive Behavior Scale-Revised, a caregiver report, in children with ASD [separated into autism and Pervasive Developmental Disorder-Not Otherwise Specified groups] compared with children with nonspectrum developmental delays or typical development. We examined the role of age, cognitive functioning, sex and social communication impairment as they relate to RRBs. The stability of RRBs in children with autism was also examined over the course of 2 years. Results of the study confirmed that the amount and type of RRBs differs by diagnosis. Age, cognitive functioning, sex and social-communication impairment were not significant correlates. Among children with autism, RRBs remained stable over time. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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19. Koolen S, Vissers CT, Egger JI, Verhoeven L. {{Monitoring in language perception in high-functioning adults with autism spectrum disorder: Evidence from event-related potentials}}. {Clin Neurophysiol};2013 (Jul 15)
OBJECTIVES: Autism spectrum disorder (ASD) is characterized by impaired global language processing, whereas local language processing often appears intact. Recent psycholinguistic research suggests that the quality of language perception relies on monitoring, an aspect of executive control. The aim of the study was to examine monitoring in people with ASD of (a) local, orthographic violations, and (b) global, syntactic violations, when provided with single level versus dual level task instructions. METHODS: We recorded event-related potentials and compared P600 effects to the linguistic violations relative to correct words in 14 adults with ASD and 14 matched controls. RESULTS: In control participants, local errors elicited a monitoring response as tapped by the P600 effect in both conditions. For global errors, the P600 effect was present only at one centroposterior site in the single level condition, whereas in the dual level condition a broadly distributed effect was obtained. People with ASD, however, showed a monitoring response to local and global errors both in the single and dual level condition. CONCLUSIONS: The main ERP finding suggests that when instructed people with ASD monitor global aspects of language already under simple circumstances, whereas people without ASD mainly do so under more complex circumstances. SIGNIFICANCE: Results suggest that language problems in ASD should not be studied in terms of a linguistic dysfunction as such, but in light of the use of executive resources during language comprehension.
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20. Marschik PB, Vollmann R, Bartl-Pokorny KD, Green VA, van der Meer L, Wolin T, Einspieler C. {{Developmental profile of speech-language and communicative functions in an individual with the Preserved Speech Variant of Rett syndrome}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years. Methods: For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences. Results: Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality. Conclusion: Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.
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21. Mulligan CK, Trauner DA. {{Incidence and Behavioral Correlates of Epileptiform Abnormalities in Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jul 20)
Autism spectrum disorders (ASD) are associated with an increased incidence of epilepsy and of epileptiform discharges on electroencephalograms. It is unknown whether epileptiform discharges correlate with symptoms of ASD. We completed a retrospective chart review of 101 patients with ASD who had overnight electroencephalograms. We looked for a relationship between epileptiform abnormalities and diagnosis, history of regression, communication skills, and other features associated with ASD. There was a higher incidence of epileptiform activity in children with stereotypies and aggressive behavior. The incidence of epileptiform abnormalities was significantly lower in Asperger’s compared with more severe forms of autism. Results suggest that increasing severity of autistic symptoms may be associated with higher likelihood of epileptiform abnormalities. Whether treatment alters outcome is unknown.
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22. Reese RM, Jamison R, Wendland M, Fleming K, Braun MJ, Schuttler JO, Turek J. {{Evaluating Interactive Videoconferencing for Assessing Symptoms of Autism}}. {Telemed J E Health};2013 (Jul 19)
Abstract Background: Autism affects as many as 1 in 88 children. Best practices recommend early identification and intervention for optimal outcomes. Currently, a gap exists between time of first concern and diagnosis, particularly for families living in rural areas. Telemedicine as a tool for assessment and diagnosis of autism is one way to address this disparity. Emerging evidence suggests telemedicine as a viable option for assessing children with a variety of special needs. Materials and Methods: This study expands upon the current literature by investigating clinicians’ ability to assess autism via telemedicine. Using interactive videoconferencing, we simulated autism assessment procedures with families with an existing diagnosis (autism or developmental disability) using current gold-standard assessment tools. We compared diagnostic accuracy, item-by-item reliability on the Autism Diagnostic Observation Schedule (ADOS)-Module 1, and the Autism Diagnostic Interview-Revised (ADI-R) as well as parent satisfaction in an in-person and interactive videoconferencing condition. Ten children (3-5 years old) with developmental delays and 11 children matched on chronological age with a diagnosis of autism were assigned to be assessed and interviewed either in-person or over videoconferencing. Clinicians observed both in-person and through videoconferencing regardless of patient assignment. Results: Results indicated no significant difference in reliability of diagnostic accuracy, ADOS observations, ratings for ADI-R parent report of symptoms, and parent satisfaction between conditions. Results indicate adequate clinician agreement and parent satisfaction regardless of observational condition. Conclusions: Future research should include a larger sample size and assess children without an existing diagnosis.
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23. Rieske RD, Matson JL, Beighley JS, Cervantes PE, Goldin RL, Jang J. {{Comorbid psychopathology rates in children diagnosed with autism spectrum disorders according to the DSM-IV-TR and the proposed DSM-5}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: To investigate differences in comorbid psychopathology rates between individuals who meet criteria of Autism Spectrum Disorders (ASDs) according to DSM-5 or the DSM-IV-TR. Methods: Comorbid psychopathology was measured using the Autism Spectrum Disorders- Comorbid for Children. 424 individuals between the ages of 2 and 18 years of age; including children who met criteria for an ASD according to the DSM-5, the DSM-IV-TR only, and a control group that did not meet either set of criteria. Results: Of the ASD participants, 36% would no longer meet criteria according to proposed DSM-5. Comorbidity rates for the ASD groups were significantly different from the control group; however, ASD groups were not significantly different in terms of total comorbid psychopathology. Conclusion: The results elucidate the need for further research regarding services and treatments for those individuals that will no longer meet criteria for an ASD but still have significant rates of comorbid psychopathology.
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24. Ritvo ER. {{Smiling Response, Stranger Anxiety, and Autistic Disorder}}. {J Autism Dev Disord};2013 (Jul 20)
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25. Romanelli M, Rhodes A. {{Guanfacine-Induced Lichenoid Drug Eruption in a Child with Autism and Attention Deficit Hyperactivity Disorder}}. {Pediatr Dermatol};2013 (Jul 21)
Lichenoid drug eruptions (LDEs) have a variety of medication causes. We report a case of a 5-year-old boy with autism and attention deficit hyperactivity disorder treated with guanfacine who developed pruritic lesions consistent with LDEs. Rechallenge was not attempted. There are several clinical and histopathologic clues that may distinguish LDEs from lichen planus.
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26. Schneider K, Regenbogen C, Pauly KD, Gossen A, Schneider DA, Mevissen L, Michel TM, Gur RC, Habel U, Schneider F. {{Evidence for Gender-Specific Endophenotypes in High-Functioning Autism Spectrum Disorder During Empathy}}. {Autism Res};2013 (Jul 18)
Despite remarkable behavioral gender differences in patients with autism spectrum disorder (ASD), and growing evidence for a diminished male : female ratio for the putative « male disorder » ASD, aspects of gender are not addressed accordingly in ASD research. Our study aims at filling this gap by exploring empathy abilities in a group of 28 patients with high-functioning ASD and 28 gender-, age- and education-matched non-autistic subjects, for the first time by means of functional neuroimaging (fMRI). In an event-related fMRI paradigm, emotional (« E ») and neutral (« N ») video clips presented actors telling self-related short stories. After each clip, participants were asked to indicate their own emotion and its intensity as well as the emotion and intensity perceived for the actor. Behaviorally, we found significantly less empathic responses in the overall ASD group compared with non-autistic subjects, and inadequate emotion recognition for the neutral clips in the female ASD group compared with healthy women. Neurally, increased activation of the bilateral medial frontal gyrus was found in male patients compared with female patients, a pattern which was not present in the non-autistic group. Additionally, autistic women exhibited decreased activation of midbrain and limbic regions compared with non-autistic women, whereas there was no significant difference within the male group. While we did not find a fundamental empathic deficit in autistic patients, our data propose different ways of processing empathy in autistic men and women, suggesting stronger impairments in cognitive aspects of empathy/theory of mind for men, and alterations of social reciprocity for women. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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27. Sheikh TI, Mittal K, Willis MJ, Vincent JB. {{A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett Syndrome patient}}. {Orphanet J Rare Dis};2013 (Jul 19);8(1):108.
BACKGROUND: Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. METHODS: In silico analyses to predict the effects of sequence variation on mRNA splicing were employed, followed by sequencing and quantification of lymphocyte mRNAs from the subject for splice variants MECP2_E1 and MECP2_E2. RESULTS: Analysis of mRNA confirmed predictions that this synonymous mutation activates a splice-donor site at an early position in exon 1, leading to a deletion (r.[=, 48_63del]), codon frameshift and premature stop codon (p.Glu17Lysfs*16) for MECP2_E1. For MECP2_E2, the same premature splice site is used, but as this is located in the 5[prime]untranslated region, no effect on the amino acid sequence is predicted. Quantitative analysis that specifically measured this cryptic splice variant also revealed a significant decrease in the quantity of the correct MECP2_E1 transcript, which indicates that this is the etiologically significant mutation in this patient. CONCLUSION: These findings suggest that synonymous variants of MECP2 as well as other known disease genes—and de novo variants in particular— should be re-evaluated for potential effects on splicing.
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28. Suren P, Stoltenberg C, Bresnahan M, Hirtz D, Lie KK, Lipkin WI, Magnus P, Reichborn-Kjennerud T, Schjolberg S, Susser E, Oyen AS, Li L, Hornig M. {{Early Growth Patterns in Children with Autism}}. {Epidemiology};2013 (Jul 17)
BACKGROUND:: Case-control studies have found increased head growth during the first year of life in children with autism spectrum disorder. Length and weight have not been as extensively studied, and there are few studies of population-based samples. METHODS:: The study was conducted in a sample of 106,082 children from the population-based Norwegian Mother and Child Cohort. The children were born in 1999-2009; by the end of follow-up on 31 December 2012, the age range was 3.6 through 13.1 years (mean 7.4 years). Measures were obtained prospectively until age 12 months for head circumference and 36 months for length and weight. We compared growth trajectories in autism spectrum disorder cases and noncases using Reed first-order models. RESULTS:: Subjects included 376 children (310 boys and 66 girls) with specialist-confirmed autism spectrum disorder. In boys with autism spectrum disorder, mean head growth was similar to that of other boys, but variability was greater, and 8.7% had macrocephaly (head circumference >97th cohort percentile) by 12 months of age. Autism spectrum disorder boys also had slightly increased body growth, with mean length 1.1 cm above and mean weight 300 g above the cohort mean for boys at age 12 months. Throughout the first year, the head circumference of girls with autism spectrum disorder was reduced-by 0.3 cm at birth and 0.5 cm at 12 months. Their mean length was similar to that of other girls, but their mean weight was 150-350 g below at all ages from birth to 3 years. The reductions in mean head circumference and weight in girls with autism spectrum disorder appear to be driven by those with intellectual disability, genetic disorders, and epilepsy. DISCUSSION:: Growth trajectories in children with autism spectrum disorder diverge from those of other children and the differences are sex specific. Previous findings of increased mean head growth were not replicated.
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29. Tureck K, Matson JL, Cervantes P, Turygin N. {{Autism severity as a predictor of inattention and impulsivity in toddlers}}. {Dev Neurorehabil};2013 (Jul 19)
Abstract Objective: Evaluate how severity of autism spectrum disorder (ASD) symptoms predicts attention-deficit/hyperactivity disorder (ADHD) symptoms in atypically developing toddlers. Method: Parents/caregivers of 2300 atypically developing toddlers’ ages 18-37 months were assessed about their children’s behaviours using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) Part 1 and the inattention/impulsivity subscale of the BISCUIT-Part 2. Results: ASD symptom severity was positively and significantly correlated with inattention/impulsivity, indicating that children with more severe symptoms of ASD tended to have higher scores on the measure of inattention/impulsivity, R2 = 0.49, F (1, 2298) = 2234.72, p < 0.001. Additionally, ASD symptom severity significantly predicted inattention/impulsivity, beta = 0.70, t (2298) = 47.27, p < 0.001. Conclusions: ASD symptom severity predicts rates of ADHD symptoms in atypically developing toddlers. The implications of these findings are discussed in the context of other research.
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30. van Wijngaarden E, Davidson PW, Smith TH, Evans K, Yost K, Love T, Thurston SW, Watson GE, Zareba G, Burns CM, Shamlaye CF, Myers GJ. {{Autism Spectrum Disorder Phenotypes and Prenatal Exposure to Methylmercury}}. {Epidemiology};2013 (Jul 18)
BACKGROUND:: There continues to be public concern that mercury exposure and autism spectrum disorder (ASD) may be associated. The primary source of exposure to organic mercury in humans is to methylmercury from fish consumption. We evaluated the association between prenatal methylmercury exposure and ASD phenotype in children and adolescents in the Republic of Seychelles, where fish consumption is high. METHODS:: We administered the Social Communication Questionnaire to parents of a cohort of 1784 children, adolescents, and young adults. The Social Responsiveness Scale was administered to teachers of 537 cohort subjects at about 10 years of age. Prenatal exposure to methylmercury was measured in maternal hair samples collected at or near the time of birth. Multivariable regression models evaluated the relationship between prenatal methylmercury exposure and ASD phenotypic scores, adjusting for relevant covariates. RESULTS:: The mean prenatal methylmercury exposure for subjects in the analysis was 8.4 ppm (standard deviation [SD] = 5.7). The mean Social Communication Questionnaire score was 8.0 (SD = 4.4). The mean prenatal methylmercury exposure for subjects with Social Responsiveness Scale scores was 6.7 ppm (SD = 4.4) and the mean Social Responsiveness Scale score was 57.6 (SD = 26.8). No consistent association between prenatal methylmercury exposure and ASD screening instrument was found, using linear and nonlinear regression analyses. CONCLUSIONS:: Prenatal exposure to methylmercury was not associated with ASD phenotypic behaviors in our cohort of high fish consumers. Our findings contribute to the growing literature suggesting that exposure to methylmercury does not play an important role in the development of ASD phenotypic behavior.
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31. Zettergren A, Jonsson L, Johansson D, Melke J, Lundstrom S, Anckarsater H, Lichtenstein P, Westberg L. {{Associations between polymorphisms in sex steroid related genes and autistic-like traits}}. {Psychoneuroendocrinology};2013 (Jul 15)
Sex differences in psychiatric disorders are common, which is particularly striking in autism spectrum disorders (ASDs) that are four times more prevalent in boys. High levels of testosterone during early development have been hypothesized to be a risk factor for ASDs, supported by several studies showing fetal testosterone levels, as well as indirect measures of prenatal androgenization, to be associated with ASDs and autistic-like traits (ALTs). Further, the importance of sex steroid related genes in ASDs is supported by studies reporting associations between polymorphisms in genes involved in sex steroid synthesis/metabolism and ASDs and ALTs. The aim of the present study was to investigate possible associations between 29 single nucleotide polymorphisms (SNPs) in eight genes related to sex steroids and autistic features. Individuals included in the study belong to a subset (n=1771) from The Child and Adolescent Twin Study in Sweden (CATSS), which are all assessed for ALTs. For two SNPs, rs2747648 located in the 3′-UTR of ESR1 encoding the estrogen receptor alpha and rs523349 (Leu89Val) located in SRD5A2 encoding 5-alpha-reductase, type 2, highly significant associations with ALTs were found in boys and girls, respectively. The results of the present study suggest that SNPs in sex steroid related genes, known to affect gene expression (rs2747648 in ESR1) and enzymatic activity (Leu89Val in SRD5A2), seem to be associated with ALTs in a general population. In conclusion, the current findings provide further support for a role of sex steroids in the pathophysiology of ASDs.
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32. Zuko A, Kleijer KT, Oguro-Ando A, Kas MJ, van Daalen E, van der Zwaag B, Burbach JP. {{Contactins in the neurobiology of autism}}. {Eur J Pharmacol};2013 (Jul 17)
Autism is a disease of brain plasticity. Inspiring work of Willem Hendrik Gispen on neuronal plasticity has stimulated us to investigate gene defects in autism and the consequences for brain development. The central process in the pathogenesis of autism is local dendritic mRNA translation which is dependent on axodendritic communication. Hence, most autism-related gene products (i) are part of the protein synthesis machinery itself, (ii) are components of the mTOR signal transduction pathway, or (iii) shape synaptic activity and plasticity. Accordingly, prototype drugs have been recognized that interfere with these pathways. The contactin (CNTN) family of Ig cell adhesion molecules (IgCAMs) harbours at least three members that have genetically been implicated in autism: CNTN4, CNTN5, and CNTN6. In this chapter we review the genetic and neurobiological data underpinning their role in normal and abnormal development of brain systems, and the consequences for behavior. Although data on each of these CNTNs is far from complete, we tentatively conclude that these three contactins play roles in brain development in a critical phase of establishing brain systems and their plasticity. They modulate neuronal activities, such as neurite outgrowth, synaptogenesis, survival, guidance of projections and terminal branching of axons in forming neural circuits. Current research on these CNTNs concentrate on the neurobiological mechanism of their developmental functions. A future task will be to establish if proposed pharmacological strategies to counteract ASD-related symptomes can also be applied to reversal of phenotypes caused by genetic defects in these CNTN genes.
