1. Bekhet AK. {{Online Positive Thinking Training Intervention for Caregivers of Individuals with ASD: Necessity, Acceptability and Feasibility}}. {Issues Ment Health Nurs};2017 (May);38(5):443-448.
BACKGROUND: More than 3.5 million people in the United States are diagnosed with autism spectrum disorder (ASD). Caring for children with ASD can be stressful and can be detrimental to the well-being of the caregivers (CGs). However, the adverse effects of caregiving on the well-being of CGs may be avoided with appropriate interventions. CGs of persons with ASD might benefit from a positive thinking training (PTT) intervention to help them cope with the stress of caregiving. However, the necessity, acceptability and feasibility for PTT in ASD CGs have not been studied. OBJECTIVE: To examine the necessity, acceptability and feasibility of a six-week online PTT intervention designed to improve the well-being of the CGs. DESIGN: Random assignment of ASD CGs to one of two conditions: (1) PTT online intervention or (2) Control group. RESULTS: The mean score on the depressive cognition scale (DCS) was 20, indicating a high need of PTT to all enrolled CGs. High depressive cognitions in ASD CGs were associated with lower positive thinking (r = -.39; p <.001). Regarding acceptability, CGs indicated that the different strategies and references to real life were the most interesting parts of the intervention. Regarding feasibility, CGs mentioned that listening to the voice-over PowerPoint and visualization was the easiest part of the PTT. CONCLUSIONS: Examination of the fidelity and effectiveness of the PTT are the next steps in the refinement of this intervention. Lien vers le texte intégral (Open Access ou abonnement)
2. Davidson MM, Ellis Weismer S. {{A Discrepancy in Comprehension and Production in Early Language Development in ASD: Is it Clinically Relevant?}}. {J Autism Dev Disord};2017 (Apr 26)
This study examined the extent to which a discrepant comprehension-production profile (i.e., relatively more delayed comprehension than production) is characteristic of the early language phenotype in autism spectrum disorders (ASD) and tracked the developmental progression of the profile. Our findings indicated that a discrepant comprehension-production profile distinguished toddlers (30 months) with ASD from late talkers without ASD (91% sensitivity, 100% specificity) in groups that were comparable on expressive language, age, and socioeconomic status. Longitudinal data for children with ASD revealed that the discrepant profile steadily decreased from 30 to 44 months until there was no significant comprehension-production difference at 66 months. In conclusion, results suggest that lower comprehension than production may be an age-specific marker of toddlers with ASD.
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3. De Groot K, Van Strien JW. {{Self-Report and Brain Indicators of Impaired Emotion Regulation in the Broad Autism Spectrum}}. {J Autism Dev Disord};2017 (Apr 26)
Although not used as a diagnostic criterion, impaired emotion regulation is frequently observed in autism. The present study examined self-reported use of emotion regulation strategies in individuals scoring low or high on autistic traits. In addition, the late positive potential, which is sensitive to emotional arousal, was used to examine the effect of one strategy, reappraisal. Reporting more autistic traits was related to using more maladaptive and fewer adaptive emotion regulation strategies. Across both groups, no attenuation of the late positive potential during downregulation of unpleasant pictures was found, possibly because of the used valence-changing reappraisal operationalisation. Hence, although self-report indicated impaired emotion regulation in individuals high on autistic traits, electrophysiological findings could not confirm this.
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4. Erturk Cetin O, Korkmaz B, Alev G, Demirbilek V. {{EEG abnormalities and long term seizure outcome in high functioning autism}}. {Acta Neurol Belg};2017 (Apr 26)
Electroencephalographic abnormalities may occur in autistic spectrum disorders (ASD) even in the absence of clinical seizures. These abnormalities may vary from nonspecific changes to epileptiform abnormalities and are more common compared to the overall population. The level of intelligence is a significant risk factor for epilepsy in ASD. However, the relation between the functionality of the individuals with autism and the electroencephalographic (EEG) abnormalities, and the clinical significance of these abnormalities still remain relatively unclear. In this study we investigated the presence of EEG abnormalities in sixteen children diagnosed with high-functioning ASD. EEG recording was performed for at least 2 h and included at least 90 min of sleep activity. While none of the patients had clinical seizures, 5 patients (31.3%) were detected to have EEG abnormalities. Four of these were epileptiform (25%), and one patient developed seizure during follow-up. Our results support the fact that EEG abnormalities are observed at a higher rate also in ASD with a better functionality. The potential impact of EEG abnormalities on cognition and behavior, and the risk of epilepsy should be considered during long-term follow-up of these patients.
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5. Golding J, Ellis G, Gregory S, Birmingham K, Iles-Caven Y, Rai D, Pembrey M. {{Grand-maternal smoking in pregnancy and grandchild’s autistic traits and diagnosed autism}}. {Sci Rep};2017 (Apr 27);7:46179.
Although there is considerable research into the genetic background of autism spectrum disorders, environmental factors are likely to contribute to the variation in prevalence over time. Rodent experiments indicate that environmental exposures can have effects on subsequent generations, and human studies indicate that parental prenatal exposures may play a part in developmental variation. Here we use the Avon Longitudinal Study of Parents and Children (ALSPAC) to test the hypothesis that if the mother or father (F1) had been exposed to their own mother’s (F0) smoking during pregnancy, the offspring (F2) would be at increased risk of autism. We find an association between maternal grandmother smoking in pregnancy and grand daughters having adverse scores in Social Communication and Repetitive Behaviour measures that are independently predictive of diagnosed autism. In line with this, we show an association with actual diagnosis of autism in her grandchildren. Paternal grandmothers smoking in pregnancy showed no associations.
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6. Gomathi M, Balachandar V. {{Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology}}. {Stem Cell Investig};2017;4:20.
Recent advances in induced pluripotent stem cell (iPSC) technology target screening and discovering of therapeutic agents for the possible cure of human diseases. Human induced pluripotent stem cells (hiPSC) are the right kind of platform for testing potency of specific active compounds. Ayurveda, the Indian traditional system of medicine developed between 2,500 and 500 BC, is a science involving the intelligent formulations of herbs and minerals. It can serve as a « goldmine » for novel neuroprotective agents used for centuries to treat neurological disorders. This review discusses limitations in screening drugs for neurological disorders and the advantages offered by hiPSC integrated with Indian traditional system of medicine. We begin by describing the current state of hiPSC technology in research on Rett syndrome (RTT) followed by the current controversies in RTT research combined with the emergence of patient-specific hiPSC that indicate an urgent need for researchers to understand the etiology and drug mechanism. We conclude by offering recommendations to reinforce the screening of active compounds present in the ayurvedic medicines using the human induced pluripotent neural model system for research involving drug discovery for RTT. This integrative approach will fill the current knowledge gap in the traditional medicines and drug discovery.
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7. Goodwin A, Matthews NL, Smith CJ. {{The Effects of Early Language on Age at Diagnosis and Functioning at School Age in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Apr 26)
Research suggests that toddlers with no language delay (NLD) should have better outcomes than those with language delay (LD). However, the predictive utility of language milestones relative to co-varying factors such as age at diagnosis, IQ, and ASD symptomatology is unclear. This study compared school-aged children with ASD and NLD (n = 59) to a well-matched group with ASD and LD (n = 59). The LD group was diagnosed at younger ages and their historical ASD symptoms were more severe than the NLD group. The groups were similar in current ASD symptoms and adaptive functioning at school age. Language milestones were correlated with adaptive functioning, but IQ and social symptoms of ASD were stronger predictors of functioning at school age. Therefore, language milestones may not be the best indicators of prognosis for children who are diagnosed after toddlerhood.
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8. Keller R, Basta R, Salerno L, Elia M. {{Autism, epilepsy, and synaptopathies: a not rare association}}. {Neurol Sci};2017 (Apr 28)
Autism spectrum disorders (ASD) are neurodevelopmental disorders typically diagnosed in childhood, characterized by core social dysfunction, rigid and repetitive behaviors, restricted interests, and abnormal sensorial sensitivity. ASD belong to multifactorial diseases: both genetic and environmental factors have been considered as potential risk factors for their onset. ASD are often associated with neurological conditions: the co-occurrence of epilepsy is well documented and there is also evidence of a higher prevalence of EEG abnormalities with 4-86% of individuals with ASD presenting epileptiform or not epileptiform EEG abnormalities. The presence of epilepsy in people with ASD may be determined by several structural alterations, genetic conditions, or metabolic dysfunctions, known to play a role in the emergence of both epilepsy and autism. The purpose of this article is to discuss precisely such latter cause of the autism-epilepsy association, focusing specifically on those « synaptic genes, » whose mutation predisposes to both the diseases.
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9. Kim D, Volk H, Girirajan S, Pendergrass S, Hall MA, Verma SS, Schmidt RJ, Hansen RL, Ghosh D, Ludena-Rodriguez Y, Kim K, Ritchie MD, Hertz-Picciotto I, Selleck SB. {{The joint effect of air pollution exposure and copy number variation on risk for autism}}. {Autism Res};2017 (Apr 27)
Autism spectrum disorder is a complex trait with a high degree of heritability as well as documented susceptibility from environmental factors. In this study the contributions of copy number variation, exposure to air pollutants, and the interaction between the two on autism risk, were evaluated in the population-based case-control Childhood Autism Risks from Genetics and Environment (CHARGE) Study. For the current investigation, we included only those CHARGE children (a) who met criteria for autism or typical development and (b) for whom our team had conducted both genetic evaluation of copy number burden and determination of environmental air pollution exposures based on mapping addresses from the pregnancy and early childhood. This sample consisted of 158 cases of children with autism and 147 controls with typical development. Multiple logistic regression models were fit with and without environmental variable-copy number burden interactions. We found no correlation between average air pollution exposure from conception to age 2 years and the child’s CNV burden. We found a significant interaction in which a 1SD increase in duplication burden combined with a 1SD increase in ozone exposure was associated with an elevated autism risk (OR 3.4, P < 0.005) much greater than the increased risks associated with either genomic duplication (OR 1.85, 95% CI 1.25-2.73) or ozone (OR 1.20, 95% CI 0.93-1.54) alone. Similar results were obtained when CNV and ozone were dichotomized to compare those in the top quartile relative to those having a smaller CNV burden and lower exposure to ozone, and when exposures were assessed separately for pregnancy, the first year of life, and the second year of life. No interactions were observed for other air pollutants, even those that demonstrated main effects; ozone tends to be negatively correlated with the other pollutants examined. While earlier work has demonstrated interactions between the presence of a pathogenic CNV and an environmental exposure [Webb et al., 2016], these findings appear to be the first indication that global copy number variation may increase susceptibility to certain environmental factors, and underscore the need to consider both genomics and environmental exposures as well as the mechanisms by which each may amplify the risks for autism associated with the other. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
10. Landa RK, Hansen B, Alice Shillingsburg M. {{Teaching mands for information using ‘when’ to children with autism}}. {J Appl Behav Anal};2017 (Apr 28)
Previous research has evaluated contrived motivating operations to teach mands for information. However, literature evaluating acquisition of the mand when? is comparatively limited. As an extension of Shillingsburg, Bowen, Valentino, & Pierce (2014), we taught three children with autism to engage in mands for information using when under alternating conditions in which a contrived establishing operation was present (EOP) or absent (EOA). Following training with a constant prompt delay, all participants acquired the mand for information and demonstrated correct use of the provided information and a decrease in inappropriate attempts to access restricted items.
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11. Lerner MD, De Los Reyes A, Drabick DAG, Gerber AH, Gadow KD. {{Informant discrepancy defines discrete, clinically useful autism spectrum disorder subgroups}}. {J Child Psychol Psychiatry};2017 (Apr 27)
BACKGROUND: Discrepancy between informants (parents and teachers) in severity ratings of core symptoms commonly arise when assessing autism spectrum disorder (ASD). Whether such discrepancy yields unique information about the ASD phenotype and its clinical correlates has not been examined. We examined whether degree of discrepancy between parent and teacher ASD symptom ratings defines discrete, clinically meaningful subgroups of youth with ASD using an efficient, cost-effective procedure. METHODS: Children with ASD (N = 283; 82% boys; Mage = 10.5 years) were drawn from a specialty ASD clinic. Parents and teachers provided ratings of the three core DSM-IV-TR domains of ASD symptoms (communication, social, and perseverative behavior) with the Child and Adolescent Symptom Inventory-4R (CASI-4R). External validators included child psychotropic medication status, frequency of ASD-relevant school-based services, and the Autism Diagnostic Observation Schedule (ADOS-2). RESULTS: Four distinct subgroups emerged that ranged from large between-informant discrepancy (informant-specific) to relative lack of discrepancy (i.e. informant agreement; cross-situational): Moderate Parent/Low Teacher or Low Parent/Moderate Teacher Severity (Discrepancy), and Moderate or High Symptom Severity (Agreement). Subgroups were highly distinct (mean probability of group assignment = 94%). Relative to Discrepancy subgroups, Agreement subgroups were more likely to receive psychotropic medication, school-based special education services, and an ADOS-2 diagnosis. These differential associations would not have been identified based solely on CASI-4R scores from one informant. CONCLUSIONS: The degree of parent-teacher discrepancy about ASD symptom severity appears to provide more clinically useful information than reliance on a specific symptom domain or informant, and thus yields an innovative, cost-effective approach to assessing functional impairment. This conclusion stands in contrast to existing symptom clustering approaches in ASD, which treat within-informant patterns of symptom severity as generalizable across settings. Within-child variability in symptom expression across settings may yield uniquely useful information for characterizing the ASD phenotype.
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12. Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H. {{Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study}}. {J Neurodev Disord};2017;9:15.
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. RESULTS: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294* mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. CONCLUSIONS: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways.
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13. Major S, Seabra-Santos MJ, Albuquerque CP. {{Validating the Preschool and Kindergarten Behavior Scales-2: Preschoolers with autism spectrum disorders}}. {Res Dev Disabil};2017 (Apr 28);65:86-96.
Social skills deficits and some behavior problems are a well-established issue in preschoolers with autism spectrum disorder (ASD). However, most of the studies available analyze social skills or behavior problems of children with ASD, but not both. The present study intends to compare the social skills and behavior problems of 32 preschoolers with ASD paired with 32 typically developing preschoolers, as evidence of validity of the Portuguese version of the Preschool and Kindergarten Behavior Scales – Second Edition (PKBS-2). Each child was rated independently by parents and teachers. Results showed a statistically significant difference in all PKBS-2 scores between the two groups, with the children with ASD rated with fewer social skills and more behavior problems by both informants. The discriminant analysis highlighted the three Social Skills, the Over-Activity/Lack of Attention and Social Withdrawal subscales as more accurate in differentiating between the two groups. The implications of using a single behavior rating scale that can be filled in by different informants (parents and teachers) to assess positive and negative behaviors are emphasized. Furthermore, the usefulness of the PKBS-2 as a screening assessment tool that could be used in clinical practice and intervention with preschoolers with ASD is discussed.
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14. Martinez K, Merchan-Naranjo J, Pina-Camacho L, Aleman-Gomez Y, Boada L, Fraguas D, Moreno C, Arango C, Janssen J, Parellada M. {{Atypical age-dependency of executive function and white matter microstructure in children and adolescents with autism spectrum disorders}}. {Eur Child Adolesc Psychiatry};2017 (Apr 26)
Executive function (EF) performance is associated with measurements of white matter microstructure (WMS) in typical individuals. Impaired EF is a hallmark symptom of autism spectrum disorders (ASD) but it is unclear how impaired EF relates to variability in WMS. Twenty-one male youth (8-18 years) with ASD and without intellectual disability and twenty-one typical male participants (TP) matched for age, intelligence quotient, handedness, race and parental socioeconomic status were recruited. Five EF domains were assessed and several DTI-based measurements of WMS [fractional anisotropy (FA), mean diffusivity (MD) and radial diffusivity (RD)] were estimated for eighteen white matter tracts. The ASD group had lower scores for attention (F = 8.37, p = 0.006) and response inhibition (F = 13.09, p = 0.001). Age-dependent changes of EF performance and WMS measurements were present in TP but attenuated in the ASD group. The strongest diagnosis-by-age effect was found for forceps minor, left anterior thalamic radiation and left cingulum angular bundle (all p’s Lien vers le texte intégral (Open Access ou abonnement)
15. Rosa M, Puig O, Lazaro L, Valles V, Lera S, Sanchez-Gistau V, Calvo R. {{Broad Cognitive Profile in Children and Adolescents with HF-ASD and in Their Siblings: Widespread Underperformance and its Clinical and Adaptive Correlates}}. {J Autism Dev Disord};2017 (Apr 28)
Despite evidence supporting the presence of cognitive deficits in children and adolescents with high-functioning autism spectrum disorder (HF-ASD), the nature of these deficits and their clinical and adaptive correlates remain unclear. Moreover, there are few cognitive studies of ASD siblings as a high risk population. We compared 50 children and adolescents with HF-ASD, 22 unaffected siblings of the HF-ASD sample and 34 community controls using an extensive neuropsychological battery. Planning, cognitive flexibility, verbal and working memory, visual local-global processing and emotion recognition are impaired in HF-ASD. Worse cognitive performance, especially in verbal and working memory, was significantly correlated with more severe symptoms and poorer adaptive functioning, also when controlling for intelligence quotient. Results in siblings may suggest an intermediate profile.
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16. Vinkhuyzen AAE, Eyles DW, Burne THJ, Blanken LME, Kruithof CJ, Verhulst F, White T, Jaddoe VW, Tiemeier H, McGrath JJ. {{Gestational vitamin D deficiency and autism spectrum disorder}}. {BJPsych Open};2017 (Mar);3(2):85-90.
BACKGROUND: There is growing interest in linking vitamin D deficiency with autism spectrum disorders (ASDs). The association between vitamin D deficiency during gestation, a critical period in neurodevelopment, and ASD is not well understood. AIMS: To determine the association between gestational vitamin D status and ASD. METHOD: Based on a birth cohort (n=4334), we examined the association between 25-hydroxyvitamin D (25OHD), assessed from both maternal mid-gestation sera and neonatal sera, and ASD (defined by clinical records; n=68 cases). RESULTS: Individuals in the 25OHD-deficient group at mid-gestation had more than twofold increased risk of ASD (odds ratio (OR)=2.42, 95% confidence interval (CI) 1.09 to 5.07, P=0.03) compared with the sufficient group. The findings persisted in analyses including children of European ethnicity only. CONCLUSIONS: Mid-gestational vitamin D deficiency was associated with an increased risk of ASD. Because gestational vitamin D deficiency is readily preventable with safe, inexpensive and readily available supplementation, this risk factor warrants closer scrutiny. DECLARATION OF INTEREST: None. COPYRIGHT AND USAGE: (c) The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license.
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17. Williams DL, Minshew NJ, Goldstein G, Mazefsky CA. {{Long-term memory in older children/adolescents and adults with autism spectrum disorder}}. {Autism Res};2017 (Apr 27)
This study extends prior memory reports in autism spectrum disorders (ASD) by investigating memory for narratives after longer recall periods and by examining developmental aspects of narrative memory using a cross-sectional design. Forty-seven older children/adolescents with ASD and 31 youth with typical development (TD) and 39 adults with ASD and 45 TD adults were compared on memory for stories from standardized measures appropriate for each age group at three intervals (immediate, 30 min, and 2 day). Both the youth with and without ASD had difficulty with memory for story details with increasing time intervals. More of the youths with ASD performed in the range of impairment when recalling the stories 2 days later as compared to the TD group. The adults with ASD had more difficulty on memory for story details with increasing delay and were poorer at recall of thematic information (needed to create a gist) across the three delay conditions as compared to the TD group. Analyses of the individual results suggested that memory for details of most of the adults with ASD was not impaired when applying a clinical standard; however, a significant percentage of the adults with ASD did not make use of thematic information to organize the narrative information, which would have helped them to remember the stories. The youth with and without ASD performed similarly when both were at a stage of development when memory for details is the primary strategy. The adults with ASD had difficulty with use organizational strategies to support episodic memory. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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18. Wink LK, Adams R, Pedapati EV, Dominick KC, Fox E, Buck C, Erickson CA. {{Brief Report: Metformin for Antipsychotic-Induced Weight Gain in Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Apr 26)
Antipsychotic treatment in youth with autism spectrum disorder (ASD) is becoming increasingly common, placing individuals at risk for antipsychotic-induced weight gain and associated complications. Metformin hydrochloride, a biguanide medication FDA-approved for treatment of type-2 diabetes in youth, may hold promise for treatment of antipsychotic-induced weight gain in youth with ASD. In this report we assess the long-term impact of metformin on antipsychotic-associated weight gain in a naturalistic sample of 53 youth with ASD. Results indicate that treatment with metformin stabilized BMI z-score over a nearly 2 year mean treatment period. Further work is indicated to determine the safety and efficacy of metformin treatment in youth with ASD, as well as predictors of response as a treatment for antipsychotic-induced weight gain.
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19. Zwart FS, Vissers C, van der Meij R, Kessels RPC, Maes JHR. {{Autism: Too eager to learn? Event related potential findings of increased dependency on intentional learning in a serial reaction time task}}. {Autism Res};2017 (Apr 27)
It has been suggested that people with autism spectrum disorder (ASD) have an increased tendency to use explicit (or intentional) learning strategies. This altered learning may play a role in the development of the social communication difficulties characterizing ASD. In the current study, we investigated incidental and intentional sequence learning using a Serial Reaction Time (SRT) task in an adult ASD population. Response times and event related potentials (ERP) components (N2b and P3) were assessed as indicators of learning and knowledge. Findings showed that behaviorally, sequence learning and ensuing explicit knowledge were similar in ASD and typically developing (TD) controls. However, ERP findings showed that learning in the TD group was characterized by an enhanced N2b, while learning in the ASD group was characterized by an enhanced P3. These findings suggest that learning in the TD group might be more incidental in nature, whereas learning in the ASD group is more intentional or effortful. Increased intentional learning might serve as a strategy for individuals with ASD to control an overwhelming environment. Although this led to similar behavioral performances on the SRT task, it is very plausible that this intentional learning has adverse effects in more complex social situations, and hence contributes to the social impairments found in ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
