1. Bagaiolo LF, Mari JJ, Bordini D, Ribeiro TC, Martone MC, Caetano SC, Brunoni D, Brentani H, Paula CS. {{Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders}}. {Autism};2017 (Mar 01):1362361316677718.
Video modeling using applied behavior analysis techniques is one of the most promising and cost-effective ways to improve social skills for parents with autism spectrum disorder children. The main objectives were: (1) To elaborate/describe videos to improve eye contact and joint attention, and to decrease disruptive behaviors of autism spectrum disorder children, (2) to describe a low-cost parental training intervention, and (3) to assess participant’s compliance. This is a descriptive study of a clinical trial for autism spectrum disorder children. The parental training intervention was delivered over 22 weeks based on video modeling. Parents with at least 8 years of schooling with an autism spectrum disorder child between 3 and 6 years old with an IQ lower than 70 were invited to participate. A total of 67 parents fulfilled the study criteria and were randomized into two groups: 34 as the intervention and 33 as controls. In all, 14 videos were recorded covering management of disruptive behaviors, prompting hierarchy, preference assessment, and acquisition of better eye contact and joint attention. Compliance varied as follows: good 32.4%, reasonable 38.2%, low 5.9%, and 23.5% with no compliance. Video modeling parental training seems a promising, feasible, and low-cost way to deliver care for children with autism spectrum disorder, particularly for populations with scarce treatment resources.
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2. Bijlenga D, Tjon-Ka-Jie JY, Schuijers F, Kooij JJ. {{Atypical sensory profiles as core features of adult ADHD, irrespective of autistic symptoms}}. {Eur Psychiatry};2017 (Feb 21);43:51-57.
BACKGROUND: Abnormal sensory sensitivity is a feature of autism-spectrum disorder (ASD), but is also reported in attention-deficit/hyperactivity disorder (ADHD). In many cases, ADHD and ASD are comorbid. This study investigated the prevalence of sensory hyper- and hyposensitivity among adults with ADHD, controlling for autistic symptoms. METHOD: One hundred and sixteen adults diagnosed with ADHD completed the Adolescent/Adult Sensory Profile-NL (AASP-NL) and the Autism-spectrum Quotient (AQ) questionnaires. Prevalences of hyper- and hyposensitivity and autism-spectrum symptoms were compared to norm values. Multivariate binary logistic regressions were used to determine the association of autistic symptoms, age, gender, ADHD subtype, self-reported severity of ADHD symptoms, comorbid disorders, and use of medication on the sensory hypo- and hypersensitivity in adults with ADHD. RESULTS: Adults with ADHD had more autistic symptoms, and they had both more hyper- and hyposensitivity compared to norm groups. This was especially apparent in the Activity level and Auditory sensory modalities. Sensory hypo- and hypersensitivity were both related to an increased ADHD score, even showing a dose-response relationship, but not to any autistic symptom or comorbid disorder. As much as 43% of the females with ADHD reported sensory hypo- and/or hypersensitivity, compared to 22% of the men. CONCLUSIONS: Sensory hypo- and hypersensitivity may be viewed as key features of adult ADHD, especially in females, regardless of any autistic symptoms. Future research should be directed at the implications of this sensory dysregulation for the understanding of the pathophysiology of (female) ADHD, and on the usefulness of assessment of atypical sensory profiles in the diagnostic procedure of ADHD in adults.
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3. Blake JM, Rubenstein E, Tsai PC, Rahman H, Rieth SR, Ali H, Lee LC. {{Lessons learned while developing, adapting and implementing a pilot parent-mediated behavioural intervention for children with autism spectrum disorder in rural Bangladesh}}. {Autism};2017 (Mar 01):1362361316683890.
Low- and middle-income countries often have limited resources, underdeveloped health systems and scarce knowledge of autism spectrum disorder. The objectives of this preliminary study were to develop and adapt intervention materials and to train a native clinician to implement a community-based parent-mediated behavioural intervention in rural Gaibandha, Bangladesh. Intervention materials to support parents’ use of behavioural strategies were developed and refined by US behavioural intervention experts and Bangladesh field experts. Study investigators trained a native child psychologist in developmental milestones and behavioural intervention techniques. The native clinician delivered a 1-day group education session attended by 10 families of children aged 7-9 years with autism spectrum disorder, followed by two one-on-one training sessions with each family to train and practice individualized strategies for targeted challenging behaviours. Preliminary qualitative results indicate the importance of materials that are culturally appropriate and at an adequate literacy level. All families expressed strong desires to have learned the behavioural strategies when their child was younger and vocalized their need for further support and tools to help their children. This study is a preliminary step to creating sustainable and low-cost autism spectrum disorder interventions in rural Bangladesh, and possibly for families in regions with similar cultural and socioeconomic status backgrounds.
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4. Boudjarane MA, Grandgeorge M, Marianowski R, Misery L, Lemonnier E. {{Perception of odors and tastes in autism spectrum disorders: A systematic review of assessments}}. {Autism Res};2017 (Mar 30)
Olfaction and gustation are major sensory functions implied in processing environmental stimuli. Some evidences suggest that loss of olfactory function is an early biomarker for neurodegenerative disorders and atypical processing of odor and taste stimuli is present in several neurodevelopmental disorders, notably in Autism Spectrum Disorders (ASD). In this paper, we conducted a systematic review investigating the assessments of olfaction and gustation with psychophysics methods in individuals with ASD. Pubmed, PMC and Sciencedirect were scrutinized for relevant literature published from 1970 to 2015. In this review, fourteen papers met our inclusion criteria. They were analyzed critically in order to evaluate the occurrence of olfactory and gustatory dysfunction in ASD, as well as to report the methods used to assess olfaction and gustation in such conditions. Regarding to these two senses, the overall number of studies is low. Most of studies show significant difference regarding to odor or taste identification but not for detection threshold. Overall, odor rating through pleasantness, intensity and familiarity do not differ significantly between control and individuals with ASD. The current evidences can suggest the presence of olfactory and gustatory dysfunction in ASD. Therefore, our analysis show a heterogeneity of findings. This is due to several methodological limitations such as the tools used or population studied. Understanding these disorders could help to shed light on other atypical behavior in this population such as feeding or social behavior. Autism Res 2017, 0: 000-000. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Castro H, Kul E, Buijsen RA, Severijnen LW, Willemsen R, Hukema RK, Stork O, Santos M. {{Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome}}. {Hum Mol Genet};2017 (Mar 22)
A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments. In this study we used a bigenic mouse model, in which expression of a 90CGG premutation tract is activated in neural cells upon doxycycline (DOX) administration – P90CGG mouse model. We here demonstrate the behavioural manifestation of clinically relevant features of FXTAS patients and premutation carrier individuals in this inducible mouse model. P90CGG mice display heightened anxiety, deficits in motor coordination and impaired gait and represent the first FXTAS model that exhibits an ataxia phenotype as observed in patients. The behavioural phenotype is accompanied by the formation of ubiquitin/FMRpolyglycine-positive intranuclear inclusions, as another hallmark of FXTAS, in the cerebellum, hippocampus and amygdala. Strikingly, upon cessation of transgene induction the anxiety phenotype of mice recovers along with a reduction of intranuclear inclusions in dentate gyrus and amygdala. By contrast, transgene motor function deteriorates further and no reduction in intranuclear inclusions can be observed in the cerebellum. Our data thus demonstrate that expression of a 90CGG premutation expansion outside of the FMR1 context is sufficient to evoke an FXTAS-like behavioural phenotype. Brain region-specific neuropathology and (partial) behavioural reversibility make the inducible P90CGG a valuable mouse model for testing pathogenic mechanisms and therapeutic intervention methods.
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6. Chahboun S, Vulchanov V, Saldana D, Eshuis H, Vulchanova M. {{Can you tell it by the prime? A study of metaphorical priming in high-functioning autism in comparison with matched controls}}. {Int J Lang Commun Disord};2017 (Mar 30)
BACKGROUND: Problems with pragmatic aspects of language are well attested in individuals on the autism spectrum. It remains unclear, however, whether figurative language skills improve with language status and whether problems in figurative language are no longer present in highly verbal individuals with autism. AIMS: To investigate whether highly verbal individuals with autism perform similarly as age-, intelligence- and verbal comprehension-matched controls on the processing of one of the most common types of figurative language, metaphors. The goal was to establish whether the participants with autism are primed similarly to controls by figurative expressions (metaphors) presented in different conditions. METHODS & PROCEDURES: The experiment was designed as a cross-modal lexical-decision task where metaphors served as primes for target words related to their figurative or literal meaning. OUTCOMES & RESULTS: Our findings show that both ASD and control participants made very few errors in the experimental task. However, the participants with ASD presented with problems in performance on the task, reflected in significantly slower reaction times compared with the typically developing peer groups. The similar response speed observed between the younger typical control children and the adult ASD participants suggests that the mechanisms underlying metaphor processing (e.g., selection of metaphorical versus literal interpretation) are still developing in high-functioning autism, very much like in typical children. CONCLUSIONS & IMPLICATIONS: These results may suggest that metaphor processing requires more than adequate language competences. The findings are also suggestive of a delay in developing sensitivity to figurative language, rather than sheer inability. This suggests that a timely training programme can be implemented to improve figurative language abilities in ASD.
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7. Dalwai S, Ahmed S, Udani V, Mundkur N, Kamath SS, MK CN. {{Consensus Statement of the Indian Academy of Pediatrics on Evaluation and Management of Autism Spectrum Disorder}}. {Indian Pediatr};2017 (Mar 29)
JUSTIFICATION: Autism Spectrum Disorder (ASD) is a clinically heterogenous condition with a wide range of etiological factors and causing significant public health burden. ASD poses a serious developmental disadvantage to the child in the form of poor schooling, social function and adult productivity. Thus, framing evidence-based national guidelines is a pressing need. PROCESS: The meeting on formulation of national consensus guidelines on neurodevelopmental disorders was organized by Indian Academy of Paediatrics in Mumbai on 18th and 19th December 2015. The invited experts included Pediatricians, Developmental Pediatricians, Psychiatrists, Remedial Educators, Pediatric Neurologists and Clinical Psychologists. The participants framed guidelines after extensive discussions. Thereafter, a committee was established to review the points discussed in the meeting. OBJECTIVE: To provide consensus guidelines on evaluation and management of ASD in children in India. RECOMMENDATIONS: Intervention should begin as early as possible. A definitive diagnosis is not necessary for commencing intervention. Intervention should target core features of autism i.e. deficits in social communication and interaction, and restricted repetitive patterns of behavior, activities and/or interests. Intervention should be specific, evidence-based, structured and appropriate to the developmental needs of the child. Management of children should be provided through interdisciplinary teams, coordinated by the Pediatrician. Management of co-morbidities is critical to effectiveness of treatment. Pharmacotherapy may be offered to children when there is a specific target symptom or co-morbid condition.
8. Franco LM, Okray Z, Linneweber GA, Hassan BA, Yaksi E. {{Reduced Lateral Inhibition Impairs Olfactory Computations and Behaviors in a Drosophila Model of Fragile X Syndrome}}. {Curr Biol};2017 (Mar 23)
Fragile X syndrome (FXS) patients present neuronal alterations that lead to severe intellectual disability, but the underlying neuronal circuit mechanisms are poorly understood. An emerging hypothesis postulates that reduced GABAergic inhibition of excitatory neurons is a key component in the pathophysiology of FXS. Here, we directly test this idea in a FXS Drosophila model. We show that FXS flies exhibit strongly impaired olfactory behaviors. In line with this, olfactory representations are less odor specific due to broader response tuning of excitatory projection neurons. We find that impaired inhibitory interactions underlie reduced specificity in olfactory computations. Finally, we show that defective lateral inhibition across projection neurons is caused by weaker inhibition from GABAergic interneurons. We provide direct evidence that deficient inhibition impairs sensory computations and behavior in an in vivo model of FXS. Together with evidence of impaired inhibition in autism and Rett syndrome, these findings suggest a potentially general mechanism for intellectual disability.
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9. Garrido D, Watson LR, Carballo G, Garcia-Retamero R, Crais ER. {{Infants at-risk for autism spectrum disorder: Patterns of vocalizations at 14 months}}. {Autism Res};2017 (Apr 01)
Differences in the early development of children are crucial for early detection of autism spectrum disorder (ASD). Previous studies have shown large differences between children later diagnosed with ASD and their typically developing peers in the early use of canonical vocalizations (i.e., vocalizations that include well-formed consonant-vowel syllables) and the use of vocalizations for communicative purposes. In this prospective study, we examined the extent to which infant vocalizations at 14 months would predict Autism Diagnostic Observation Schedule (ADOS) diagnostic symptom groups, that is, Autism, Spectrum, and Non-ASD, for 82 community-identified at-risk infants at 23 months. Thirty-minute video samples were coded with the intention to categorize and quantify speech (canonical/noncanonical and directed/nondirected) and nonspeech vocalizations (atypical, distress, and pleasure vocalizations). Our results revealed that more canonical directed (OR = 1.039, P = .036), and fewer noncanonical directed (OR=.607, P = .002) and noncanonical nondirected (OR = 1.200, P = .049) vocalizations were associated with a greater likelihood of being in the Non-ASD group versus the Autism group, with no variables significantly predicting Autism versus Spectrum group membership. Despite some statistically significant findings, models performed poorly in classifying children into correct ASD symptom group at age 23 months based on vocalizations at 14 months. Thus, the utility of infant vocalizations alone for predicting toddler clinical outcomes among infants initially identified at an elevated risk for ASD appears limited; however, considering the structure and function of early vocalizations combined with other early developmental and behavioral features may improve the confidence for clinicians in making an early diagnosis of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Gerencser KR, Higbee TS, Akers JS, Contreras BP. {{Evaluation of interactive computerized training to teach parents to implement photographic activity schedules with children with autism spectrum disorder}}. {J Appl Behav Anal};2017 (Mar 28)
Training parents of children with autism spectrum disorder can be a challenge due to limited resources, time, and money. Interactive computerized training (ICT)-a self-paced program that incorporates instructions, videos, and interactive questions-is one method professionals can use to disseminate trainings to broader populations. This study extends previous research on ICT by assessing the effect of ICT to teach three parents how to implement a photographic activity schedule using a systematic prompting procedure with their child. Following ICT, all parents increased their fidelity to implementation of an activity schedule during role-play sessions with an adult. Fidelity remained high during implementation with their child and maintained during a 2-week follow-up.
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11. Golden D, Getchell N. {{Physical Activity Levels in Children With and Without Autism Spectrum Disorder When Playing Active and Sedentary Xbox Kinect Videogames}}. {Games Health J};2017 (Apr 04)
OBJECTIVE: We compare physical activity during bouts of sedentary videogaming (SVG), active videogaming (AVG), and paced walking in children with and without autism spectrum disorder (ASD) to determine the effectiveness of AVG in providing moderate-to-vigorous physical activity. MATERIALS AND METHOD: Participants included nine males (8-11 years old) with ASD and eight age-matched males who were typically developing. Both groups had anthropometric and motor proficiency (Movement Assessment Battery for Children II) measures taken before testing. Participants attended three randomly assigned acquisition sessions: 20 minutes of paced walking at 4.5 metabolic equivalents, AVG, and SVG. Videogaming occurred on an Xbox(R) Kinect. An Actical accelerometer provided activity counts (AC) and percentage of time in moderate-to-vigorous physical activity (%MVPA). These were compared using 3 x 2 repeated measures analysis of variance for each measure. RESULTS: Main effects for conditions existed for %MVPA (P < 0.0001) and AC (P < 0.0001). Post hoc Bonferroni comparisons indicated that AVG had significantly higher AC (P < 0.001) and % MVPA (P < 0.001) than SVG, but was significantly lower than paced walking (AC P < 0.001; %MVPA P < 0.01). Overall, participants spent 76.25% of their time in MVPA during AVG compared to 99.4% during paced walking and 2.31% in SVG. No main effects for groups or group by condition interaction effects were found for either measure. CONCLUSIONS: AVG may provide an appealing means by which all individuals can increase their overall physical activity levels, although AVG should not be seen as a replacement for walking or other forms of PA. Although further research is necessary, the finding that both groups performed similarly in AVG suggests that games can potentially be played without modifications or adaptations to gaming units, which may provide several advantages in terms of social/cost/ease of accessing unit. Lien vers le texte intégral (Open Access ou abonnement)
12. Golubchik P, Rapaport M, Weizman A. {{The effect of methylphenidate on anxiety and depression symptoms in patients with Asperger syndrome and comorbid attention deficit/hyperactivity disorder}}. {Int Clin Psychopharmacol};2017 (Mar 31)
The objective of this study was to assess the response of anxiety and depression symptoms to methylphenidate (MPH) treatment in patients with Asperger syndrome (AS) combined with attention deficit/hyperactivity disorder (ADHD). A group of 12 patients with AS/ADHD, aged 8-18 years, received 12 weeks of MPH treatment. The severities of ADHD, anxiety, and depression symptoms were assessed by means of the ADHD Rating Scale (ADHD-RS), Screen for Child Anxiety Related Emotional Disorders, and the Children’s Depression Inventory. The severity of ADHD and depression symptoms was reduced significantly (P<0.0003 and P=0.046, respectively). No improvement in total anxiety symptoms was found, but a significant reduction was obtained in the school-related subscale of the Screen for Child Anxiety Related Emotional Disorders (P=0.0054). A positive correlation was found between the reductions in ADHD-RS and Children's Depression Inventory scores (r=0.59, P=0.039). MPH treatment may be safe, tolerable, and effective in alleviating depression and school-related anxiety symptoms in patients with AS and ADHD. Lien vers le texte intégral (Open Access ou abonnement)
13. Graf WD, Miller G, Epstein LG, Rapin I. {{The autism « epidemic »: Ethical, legal, and social issues in a developmental spectrum disorder}}. {Neurology};2017 (Apr 04);88(14):1371-1380.
Classic autism has gradually evolved into the concept of a larger « spectrum disorder. » The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments. Each group may have different views of autism/ASD diagnostic criteria, screening, testing, and the effectiveness of various interventions. All see timely diagnosis as desirable, but earlier diagnosis may not be better, morally or practically. The growing practice of genetic testing in milder ASD raises ethical questions because of its uncertain scientific validity and limited clinical utility. Individuals with autism/ASD have various kinds of needs but all want acceptance and most deserve better accommodations. Governments struggle to provide a fair allocation of appropriate special education and supportive services. This article examines the evolving dimensions of the autism/ASD diagnosis, outlines certain bioethics principles related to its evaluation and management, reviews relevant laws and disability rights, and emphasizes the societal obligation to recognize neurodevelopmental variation and human neurodiversity. Future directions in the evaluation and care of autism/ASD should attempt to integrate the roles and responsibilities of all agents caring for each unique autistic individual.
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14. Hand BN, Dennis S, Lane AE. {{Latent constructs underlying sensory subtypes in children with autism: A preliminary study}}. {Autism Res};2017 (Apr 01)
Recent reports identify sensory subtypes in ASD based on shared patterns of responses to daily sensory stimuli [Ausderau et al., 2014; Lane, Molloy, & Bishop, 2014]. Lane et al. propose that two broad sensory dimensions, sensory reactivity and multisensory integration, best explain the differences between subtypes, however this has yet to be tested. The present study tests this hypothesis by examining the latent constructs underlying Lane’s sensory subtypes. Participants for this study were caregivers of children with autism spectrum disorder (ASD) aged 2-12 years. Caregiver responses on the Short Sensory Profile (SSP), used to establish Lane’s sensory subtypes, were extracted from two existing datasets (total n = 287). Independent component analyses were conducted to test the fit and interpretability of a two-construct structure underlying the SSP, and therefore, the sensory subtypes. The first construct was largely comprised of the taste/smell sensitivity domain, which describes hyper-reactivity to taste and smell stimuli. The second construct had a significant contribution from the low energy/weak domain, which describes behaviors that may be indicative of difficulties with multisensory integration. Findings provide initial support for our hypothesis that sensory reactivity and multisensory integration underlie Lane’s sensory subtypes in ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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15. Jalbrzikowski M, Ahmed KH, Patel A, Jonas R, Kushan L, Chow C, Bearden CE. {{Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome}}. {Biol Psychiatry Cogn Neurosci Neuroimaging};2017 (Jan);2(1):53-65.
BACKGROUND: 22q11.2 Microdeletion syndrome (22q11DS) is associated with elevated rates of autism spectrum disorders (ASDs), although the diagnosis is controversial. In order to determine whether there is a biological substrate of ASD in 22q11DS, we examined neurocognitive and structural neuroanatomic differences between those with 22q11DS and an ASD diagnosis (22q11DS-ASD+) and those with 22q11DS without ASD (22q11DS-ASD-); we then determined whether these differences were better characterized within a categorical or dimensional framework. METHODS: We collected multiple neurocognitive measures and high-resolution T1-weighted scans on 116 individuals (29 22q11DS-ASD+, 32 22q11DS-ASD-, 55 typically developing controls) between 6 and 26 years of age. Measures of subcortical volume, cortical thickness (CT), and surface area were extracted using the FreeSurfer image analysis suite. Group differences in neurocognitive and neuroanatomic measures were assessed; regression analyses were then performed to determine whether a categorical or dimensional measure of ASD was a better predictor of neurocognitive impairment and/or neuroanatomic abnormalities observed in 22q11DS-ASD+. RESULTS: In comparison to 22q11DS-ASD-, 22q11DS-ASD+ participants exhibited decreased bilateral hippocampal CT and decreased right amygdala volumes. Those with 22q11DS-ASD+ also showed slowed processing speed and impairments in visuospatial and facial memory. Neurocognitive impairments fit a dimensional model of ASD, whereas reductions in parahippocampal CT were best explained by a categorical measure of ASD. CONCLUSIONS: A combination of categorical and dimensional measures of ASD may provide the most comprehensive understanding of ASDs in 22q11DS.
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16. Jeste SS, Schor NF. {{Autism today: Have we put the cart before the horse?}}. {Neurology};2017 (Apr 04);88(14):1303-1304.
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17. Kerns CM, Newschaffer CJ, Berkowitz S, Lee BK. {{Brief Report: Examining the Association of Autism and Adverse Childhood Experiences in the National Survey of Children’s Health: The Important Role of Income and Co-occurring Mental Health Conditions}}. {J Autism Dev Disord};2017 (Apr 04)
Adverse childhood experiences (ACEs) are risk factors for mental and physical illness and more likely to occur for children with autism spectrum disorder (ASD). The present study aimed to clarify the contribution of poverty, intellectual disability and mental health conditions to this disparity. Data on child and family characteristics, mental health conditions and ACEs were analyzed in 67,067 youth from the 2011-2012 National Survey of Children’s Health. In an income-stratified sample, the association of ASD and ACEs was greater for lower income children and significantly diminished after controlling for child mental health conditions, but not intellectual disability. Findings suggest that the association of ACEs and ASD is moderated by family income and contingent on co-occurring mental health conditions.
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18. Lo BH, Klopper F, Barnes EH, Williams K. {{Agreement between concern about autism spectrum disorder at the time of referral and diagnosis, and factors associated with agreement}}. {J Paediatr Child Health};2017 (Apr 04)
AIM: This study examined the level of agreement between referral reason and diagnostic outcome for pre-school aged children showing developmental delays and differences. In particular, the level of agreement when there was concern about autism spectrum disorder (ASD) was investigated. METHODS: Clinical records for children (n = 677) assessed for developmental concerns at a multidisciplinary assessment clinic in Sydney, Australia, were examined. Referral reason and diagnostic outcome were compared. Referral sources and factors including age, developmental level and language functioning, were explored for potential association with the consistency between referral reason and diagnosis. RESULTS: Approximately 30% of children referred for developmental assessment with ASD concern were not diagnosed with ASD. Agreement between referral reason and diagnosis was similar regardless of referral source and child age. Of children where diagnostic outcome was discordant with referral reason, 24% had delayed language. Variability in cognitive or developmental profiles was common (64%), regardless of diagnostic outcome. CONCLUSIONS: Referral for ASD diagnostic assessments in the cases where ASD is not the primary cause for a child’s difficulties increases pressure on assessment services, can delay access to ASD-specific intervention services for children who do have ASD, and can contribute to parent anxiety unnecessarily. The current evidence that a substantial minority of children were referred for ASD diagnostic assessments when ASD was not the primary cause for the difficulties emphasises the value of adopting a developmental differences framework, focusing on dimensions of behaviour and functioning, rather than an autism-specific service structure.
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19. Luo J, Feng Q, Wei L, Luo M. {{Optogenetic activation of dorsal raphe neurons rescues the autistic-like social deficits in Shank3 knockout mice}}. {Cell Res};2017 (Apr 04)
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20. McKechanie AG, Moffat VJ, Johnstone EC, Fletcher-Watson S. {{Links between Autism Spectrum Disorder Diagnostic Status and Family Quality of Life}}. {Children (Basel)};2017 (Apr 03);4(4)
Quality of life is often relatively lowered in families of children with additional needs, and this may be particularly the case where additional needs are accompanied by an autism spectrum disorder (ASD). Here we explore the effects of diagnostic status specifically, comparing families with children with an ASD diagnosis with others who a) have additional needs but no signs of ASD; and b) have additional needs and signs of ASD but no diagnosis. Mothers (n = 76) of children with additional needs completed standardised questionnaires about quality of life, stress, service provision, child behaviour and presence and severity of ASD traits. In addition, a group of mothers of typically developing young people (n = 17) completed standardised questionnaires on individual and family quality of life and on the behaviour of their son or daughter. Mothers of typically developing young people had significantly higher individual and family quality of life scores than each of the three other groups. Increased severity of ASD was associated with increased maternal stress, which in turn was associated with decreased family and maternal quality of life. The group reporting the lowest quality of life and the highest stress were the mothers of individuals with signs of ASD but no diagnosis. This pattern did not seem to be explained by lack of access to services, or rates of intellectual disability or challenging behaviour in this sub-group. The finding that poor quality of life and high stress was most apparent in the sub-group of mothers with children who had signs of ASD but did not have a diagnosis of ASD suggests that an interesting topic for further investigation is whether receipt of a diagnosis itself can positively influence quality of life and levels of maternal stress.
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21. Mushegian AA. {{Impaired phagocytosis in fragile X}}. {Sci Signal};2017 (Apr 04);10(473)
Defects in phagocytosis underlie both neurological and immunological symptoms in a fly model of fragile X syndrome.
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22. Pellissier LP, Gandia J, Laboute T, Becker JA, Le Merrer J. {{Mu opioid receptor, social behaviour and autism spectrum disorder: reward matters}}. {Br J Pharmacol};2017 (Apr 03)
The endogenous opioid system is well known to relieve pain and underpin the rewarding properties of most drugs of abuse. Among opioid receptors, the mu opioid receptor (muOR) mediates most of the analgesic and rewarding properties of opioids. Based on striking similarities between social distress, physical pain and opiate withdrawal, muOR has been proposed to play a critical role in modulating social behaviour in humans and animals. This review summarizes experimental data demonstrating such role and proposes a novel model, the muOR Balance Model, to account for muOR contribution to the subtle regulation of social behaviour. Interestingly, muOR null mice show behavioural deficits similar to these observed in patients with Autism Spectrum Disorders (ASD), including severe impairment in social interactions. Therefore, after a brief summary of recent evidence for blunted (social) reward processes in subjects with ASD, we review here arguments for altered muOR function in this pathology.
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23. Sabapathy T, Madduri N, Deavenport-Saman A, Zamora I, Schrager SM, Vanderbilt DL. {{Parent-Reported Strengths in Children with Autism Spectrum Disorders at the Time of an Interdisciplinary Diagnostic Evaluation}}. {J Dev Behav Pediatr};2017 (Apr);38(3):181-186.
OBJECTIVE: Parents of children with autism spectrum disorders (ASD) often focus on concerns in discussions with health care providers. However, studying child strengths and positive parental attributions is an emerging area of focus and not often highlighted in many studies with children with ASD. The objective of this study was to identify parent-reported strengths in a sample of children with ASD. METHODS: This was a qualitative study of parent report of strengths in clinical notes with children between the ages 3 and 8 presenting for a team diagnostic evaluation and meeting the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-Text Revision (TR) or DSM-V diagnostic criteria for ASD. The reported child’s strengths were qualitatively analyzed, coded, and clustered into themes. RESULTS: Ninety-eight charts were reviewed. Five meta-themes of strengths were identified: Personality Characteristics, Social Personality, Cognitive Functioning, Behavioral Characteristics/Coping Mechanisms, and Skills. On average, parents reported more strengths in the Cognitive Functioning and Personality Characteristics meta-themes. CONCLUSION: Pediatricians have a unique opportunity to discuss parental positive perceptions of children with ASD and to learn about their strengths.
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24. Samms-Vaughan M, Rahbar MH, Dickerson AS, Loveland KA, Hessabi M, Pearson DA, Bressler J, Shakespeare-Pellington S, Grove ML, Coore-Desai C, Reece J, Boerwinkle E. {{The diagnosis of autism and autism spectrum disorder in low- and middle-income countries: Experience from Jamaica}}. {Autism};2017 (Mar 01):1362361317698938.
The administration requirements of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, widely used in high-income countries, make them less feasible for diagnosis of autism spectrum disorder in low- and middle-income countries. The flexible administration requirements of the Childhood Autism Rating Scale have resulted in its use in both high-income countries and low- and middle-income countries. This study examines the agreement between assessments using the Childhood Autism Rating Scale with those using the Autism Diagnostic Observation Schedule or Autism Diagnostic Observation Schedule, Second Edition and Autism Diagnostic Interview-Revised in Jamaica. Children aged 2-8 years (n = 149) diagnosed with autism by an experienced clinician using the Childhood Autism Rating Scale were re-evaluated using the Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised. The proportion diagnosed with autism spectrum disorder using the Autism Diagnostic Observation Schedule, Autism Diagnostic Observation Schedule, Second Edition, and Autism Diagnostic Interview-Revised was determined and mean domain scores compared using analysis of variance (ANOVA). The mean age was 64.4 (standard deviation = 21.6) months; the male:female ratio was 6:1. The diagnostic agreement of the Childhood Autism Rating Scale with the Autism Diagnostic Observation Schedule and Autism Diagnostic Observation Schedule, Second Edition was 100.0% and 98.0%, respectively. Agreement with the Autism Diagnostic Interview-Revised was 94.6%. Domain scores were highest for children with more severe symptoms (p < 0.01). Despite a high level of agreement of the Childhood Autism Rating Scale with the Autism Diagnostic Observation Schedule, Autism Diagnostic Observation Schedule, Second Edition, and Autism Diagnostic Interview-Revised, the Childhood Autism Rating Scale should be evaluated further with a broader range of autism spectrum disorder symptomatology, and by clinicians with varying experience before recommendation for use in low- and middle-income countries. Lien vers le texte intégral (Open Access ou abonnement)
25. Santos M, Marques C, Nobrega Pinto A, Fernandes R, Coutinho MB, Almeida ESC. {{Autism spectrum disorders and the amplitude of auditory brainstem response wave I}}. {Autism Res};2017 (Apr 01)
To determine whether children with autism spectrum disorders (ASDs) have an increased number of wave I abnormal amplitudes in auditory brainstem responses (ABRs) than age- and sex-matched typically developing children. This analytical case-control study compared patients with ASDs between the ages of 2 and 6 years and children who had a language delay not associated with any other pathology. Amplitudes of ABR waves I and V; absolute latencies (ALs) of waves I, III, and V; and interpeak latencies (IPLs) I-III, III-IV, and I-V at 90 dB were compared between ASD patients and normally developing children. The study enrolled 40 children with documented ASDs and 40 age- and sex-matched control subjects. Analyses of the ABR showed that children with ASDs exhibited higher amplitudes of wave 1 than wave V (35%) more frequently than the control group (10%), and this difference between groups reached statistical significance by Chi-squared analysis. There were no significant differences in ALs and IPLs between ASD children and matched controls. To the best of our knowledge, this is the first case-control study testing the amplitudes of ABR wave I in ASD children. The reported results suggest a potential for the use of ABR recordings in children, not only for the clinical assessment of hearing status, but also for the possibility of using amplitude of ABR wave I as an early marker of ASDs allowing earlier diagnosis and intervention. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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26. Schwartz DD, Katzenstein JM, Highley EJ, Stabley DL, Sol-Church K, Gripp KW, Axelrad ME. {{Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome}}. {Am J Med Genet A};2017 (Apr 04)
Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.
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27. Silverman LB, Eigsti IM, Bennetto L. {{I tawt i taw a puddy tat: Gestures in canary row narrations by high-functioning youth with autism spectrum disorder}}. {Autism Res};2017 (Apr 01)
This study examined whether individuals with autism spectrum disorder (ASD) produce co-speech gestures similarly to typically developing (TD) peers. Participants were 20 youth ages 10-18 years with high-functioning ASD and 21 TD controls matched on age, gender, verbal IQ, and handedness. Gestures were elicited using a classic narrative-retelling task, in which participants watched a Tweety and Sylvester cartoon and retold the cartoon to a confederate. Analyses compared gesture rate, type, and viewpoint (character, observer, dual) across groups. Communicative utility of gestures was measured via naive coder ratings of whether a movement was a gesture, and the clarity of a gesture’s meaning. The ASD group produced shorter narratives and fewer total gestures than the TD group. Accounting for narrative length, the ASD group produced fewer gestures per clause than the TD group; however, proportions of gesture types (iconic, deictic, beat, metaphoric, emblems) did not differ. Most notably, the ASD group’s gestures were rated as less clearly gestures in terms of timing and well formedness, with lower certainty ratings for gesture meaning. Gesture clarity and gesture meaning scores were related to diagnostic measures of gesture competence in ASD. Findings suggest that although fluent children and adolescents with ASD use the same type of gestures as controls, their gestures are more difficult to understand, which has significant implications for their communicative abilities more broadly. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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28. Soskey LN, Allen PD, Bennetto L. {{Auditory spatial attention to speech and complex non-speech sounds in children with autism spectrum disorder}}. {Autism Res};2017 (Apr 01)
One of the earliest observable impairments in autism spectrum disorder (ASD) is a failure to orient to speech and other social stimuli. Auditory spatial attention, a key component of orienting to sounds in the environment, has been shown to be impaired in adults with ASD. Additionally, specific deficits in orienting to social sounds could be related to increased acoustic complexity of speech. We aimed to characterize auditory spatial attention in children with ASD and neurotypical controls, and to determine the effect of auditory stimulus complexity on spatial attention. In a spatial attention task, target and distractor sounds were played randomly in rapid succession from speakers in a free-field array. Participants attended to a central or peripheral location, and were instructed to respond to target sounds at the attended location while ignoring nearby sounds. Stimulus-specific blocks evaluated spatial attention for simple non-speech tones, speech sounds (vowels), and complex non-speech sounds matched to vowels on key acoustic properties. Children with ASD had significantly more diffuse auditory spatial attention than neurotypical children when attending front, indicated by increased responding to sounds at adjacent non-target locations. No significant differences in spatial attention emerged based on stimulus complexity. Additionally, in the ASD group, more diffuse spatial attention was associated with more severe ASD symptoms but not with general inattention symptoms. Spatial attention deficits have important implications for understanding social orienting deficits and atypical attentional processes that contribute to core deficits of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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29. Vasudeva SB, Hollander E. {{Body Dysmorphic Disorder in Patients With Autism Spectrum Disorder: A Reflection of Increased Local Processing and Self-Focus}}. {Am J Psychiatry};2017 (Apr 01);174(4):313-316.
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30. Zhao D, Mokhtari R, Pedrosa E, Birnbaum R, Zheng D, Lachman HM. {{Transcriptome analysis of microglia in a mouse model of Rett syndrome: differential expression of genes associated with microglia/macrophage activation and cellular stress}}. {Mol Autism};2017;8:17.
BACKGROUND: Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical development. It is usually due to de novo loss of function mutations in the X-linked gene, MeCP2, which codes for the gene expression and chromatin regulator, methyl-CpG binding protein 2. Although the behavioral phenotype appears to be primarily due to neuronal Mecp2 deficiency in mice, other cell types, including astrocytes and oligodendrocytes, also appear to contribute to some aspects of the RTT phenotype. In addition, microglia may also play a role. However, the effect of Mecp2 deficiency in microglia on RTT pathogenesis is controversial. METHODS: In the current study, we applied whole transcriptome analysis using RNA-seq to gain insight into molecular pathways in microglia that might be dysregulated during the transition, in female mice heterozygous for an Mecp2-null allele (Mecp2+/-; Het), from the pre-phenotypic (5 weeks) to the phenotypic phases (24 weeks). RESULTS: We found a significant overlap in differentially expressed genes (DEGs) with genes involved in regulating the extracellular matrix, and those that are activated or inhibited when macrophages and microglia are stimulated towards the M1 and M2 activation states. However, the M1- and M2-associated genes were different in the 5- and 24-week samples. In addition, a substantial decrease in the expression of nine members of the heat shock protein (HSP) family was found in the 5-week samples, but not at 24 weeks. CONCLUSIONS: These findings suggest that microglia from pre-phenotypic and phenotypic female mice are activated in a manner different from controls and that pre-phenotypic female mice may have alterations in their capacity to response to heat stress and other stressors that function through the HSP pathway.
