1. Blanken LM, Muetzel RL, Jaddoe VW, Verhulst FC, van der Lugt A, Tiemeier H, White T. {{White matter microstructure in children with autistic traits}}. {Psychiatry Res};2017 (Mar 28);263:127-134.
Autism spectrum disorder (ASD) is thought to arise from aberrant development of connections in the brain. Previous studies have identified differences in white matter microstructure in children with ASD, offering support to such hypotheses. While ASD is thought to represent the severe end of a spectrum of traits, there are no studies evaluating white matter microstructure in relation to autistic traits in children from the general population. In a population-based sample of 604 6-to-10 year-old children, we assessed the relation between a continuous measure of autistic traits and white matter microstructure, using both probabilistic tractography and Tract-Based Spatial Statistics (TBSS). Using the TBSS approach, a cluster in the left superior longitudinal fasciculus (SLF) was identified where autistic traits negatively associated with fractional anisotropy (FA). In addition, two clusters of lower axial diffusion were identified; one in the corpus callosum and another in the corticospinal tract. Part of the findings remained when excluding children with ASD and were paralleled with similar, trend-level differences in 19 children with ASD, compared to matched controls. This study showed localized associations between autistic traits on a continuum and white matter microstructure, which could indicate a continuum of the neurobiology along the spectrum of autistic symptoms.
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2. Chenausky K, Nelson C, 3rd, Tager-Flusberg H. {{Vocalization Rate and Consonant Production in Toddlers at High and Low Risk for Autism}}. {J Speech Lang Hear Res};2017 (Apr 03):1-12.
Background: Previous work has documented lower vocalization rate and consonant acquisition delays in toddlers with autism spectrum disorder (ASD). We investigated differences in these variables at 12, 18, and 24 months in toddlers at high and low risk for ASD. Method: Vocalization rate and number of different consonants were obtained from speech samples from a prospective study of infant siblings of children with ASD. Three groups were compared: 18 toddlers at low risk for ASD (low-risk control), 18 high-risk siblings without ASD (HRA-), and 10 high-risk siblings with ASD (HRA+). Results: All groups’ mean language scores were within the normal range. HRA+ toddlers showed consistently lower vocalization rate; vocalization rate did not predict number of different consonants at 12 months for HRA+. HRA-, not HRA+, toddlers had the smallest number of different consonants and produced significantly fewer different consonants than predicted by their vocalization rate at 12 months. Consonant-acquisition trajectories differed between groups, with HRA- showing the greatest increase from 12 to 18 months. Conclusion: Lower vocalization rate was not associated with reduced number of different consonants in these toddlers. Between-groups differences in developmental trajectories are discussed in the context of the social feedback loop and differential ability to benefit from adult feedback between groups.
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3. Joginder Singh S, Hussein NH, Mustaffa Kamal R, Hassan FH. {{Reflections of Malaysian parents of children with developmental disabilities on their experiences with AAC}}. {Augment Altern Commun};2017 (Apr 07):1-11.
Parents play an important role in the successful implementation of AAC. Previous research has indicated that parents in different countries have varying perceptions about the use of AAC and face different challenges in its implementation. To date, there is limited information about the use of AAC by children in Malaysia or parents’ views about its use. The aim of this study was to explore Malaysian parents’ perception of AAC and their experience when supporting their children who use AAC. For this study, 12 parents of children with autism spectrum disorder and cerebral palsy were involved in semi-structured individual interviews. Qualitative content analysis was used to analyze interview data. Following analysis, three themes were identified: (a) impact of the use of AAC, (b) challenges faced, and (c) hopes and expectations. Participants reported that the use of AAC had a positive impact on their children, but that they faced challenges related to the child, the settings, and the system itself, as well as a lack of time and support. Findings from this study provide an insight for Malaysian speech therapists about the challenges faced by parents when supporting their children who use AAC, and how important it is to overcome these challenges to ensure successful implementation of AAC.
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4. Kalra V, Seth R, Sapra S. {{Autism – Experiences in a tertiary care hospital}}. {Indian J Pediatr};2005 (Mar);72(3):227-230.
Pervasive developmental disorders (PDD) or Autistic Spectrum Disorders (ASD) include Autistic Disorder (commonest), Asperger’s syndrome, Childhood Disintegrative Disorders, Rett’s syndrome and PDD-NOS (not otherwise specified). OBJECTIVE: Autism is an important cause of social disability and reported more often from the developed world than from the developing countries. The present study was aimed to establish the diagnosis of autism amongst children with derangements of language, communication and behavior; ascertain and treat the co-morbidities; identify underlying cause and create a sensitivity and awareness among various health care professionals. METHODS: Sixty-two of the seventy-five referred patients fulfilled the DSM-IV (Diagnostic and Statistical Manual of Mental Disorder) criteria for autism. Evaluation included a detailed history, clinical examination, IQ assessment, Connor’s scoring for hyperactivity and Fragile-X screening. Management of co-morbidities was done. A follow up of these patients was done. Parents’ assessment of the child was also done. A registry for autistic children was established at the Department of Pediatrics with other major institutions of Delhi. RESULTS: The male: female ratio was 8ratio1 and missed diagnosis was common. Professional awareness is merited. Behavioral modification by early intervention and stimulation improved the core symptoms of autism. Important co-morbidities included mental retardation (95%), hyperactivity (53%) and seizures (10%) cases. Control of co-morbidities in these children facilitated child’s periodic assessment and implementation of intervention programmes. In the registry initiated 62 patients were enrolled at AIIMS and 6 were identified from other hospitals. CONCLUSION: Autism does occur in Indian children too. Diagnosis is often missed. Capacity building among health professionals by a more structured teaching of developmental disabilities in the medical curriculum is required. The need to attend to co- morbidities and associated symptoms was clear. The initiation of the registry and beginning of networking was important.
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5. Kichukova TM, Popov NT, Ivanov IS, Vachev TI. {{Profiling of Circulating Serum MicroRNAs in Children with Autism Spectrum Disorder using Stem-loop qRT-PCR Assay}}. {Folia Med (Plovdiv)};2017 (Mar 01);59(1):43-52.
BACKGROUND: Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheral blood, serum and post-mortem brain tissue have been linked to ASD. miRNAs are known to be secreted by various cell types and can mediate transmission of information into recipient cells and to modulate their physiological functions. On this basis it is assumed that circulating miRNAs could be useful biomarkers for the diagnosis or prognosis of pathological conditions. AIM: The aim of this study was to test whether circulating miRNAs display differential expression profile in serum of ASD patients. PATIENTS AND METHODS: The relative expression levels of 42 miRNAs were analyzed by stem-loop qRT-PCR assay in the serum of ASD patients compared to healthy controls. RESULTS: The results indicated that 11 miRNAs in ASD patients were substantially higher expressed than these in control subjects, and 29 miRNAs were lower expressed, respectively. In addition, target gene analysis displayed that the altered serum miRNAs targeted some important genes like alpha 1C subunit of voltage-dependent calcium channel, L type, (CACNA1C), beta 1 subunit of voltage-dependent calcium channel (CACNB1) and other genes involved in epigenetic processes like dicer 1, coding ribonuclease type III (DICER). CONCLUSION: Our results suggested that differentially expressed miRNAs in serum might be involved in ASD molecular pathways, and serum miR-424-5p, miR-197- 5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR- 365a-3p might be able to serve as potential biomarkers for ASD because they displayed significant alterations in the expression profile in children diagnosed with ASD.
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6. Lai JK, Weiss JA. {{Priority service needs and receipt across the lifespan for individuals with autism spectrum disorder}}. {Autism Res};2017 (Apr 06)
Individuals with Autism Spectrum Disorder (ASD) have a range of health, community, and social support needs across the lifespan that create age-specific challenges in navigating service sectors. In this study, we set out to identify the priority needs of individuals with ASD across the lifespan, and the factors that predict receiving priority services. Participants included 3,317 individuals with ASD from a Canada-wide online caregiver survey, stratified into five age groups (preschool, elementary school age, adolescence, emerging adulthood, adulthood). Priority receipt was calculated as a ratio of current services that corresponded to individualized priority need. Age-stratified Poisson regression analyses were used to identify the sociodemographic, clinical and systemic predictors of priority receipt. Results indicate that the distribution of priority need varied by age, except for social skills programming, which was a high across all groups. The number of high and moderate priority needs diversified with age. Overall, 30% of individuals had none of their priority needs met and priority receipt decreased with age. Systemic factors were most consistently related to priority receipt across the lifespan. Understanding patterns and correlates of priority needs and use that currently exist in different age groups can inform policies to improve service access. Autism Res 2017. (c) 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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7. Lee BK, Arver S, Widman L, Gardner RM, Magnusson C, Dalman C, Kosidou K. {{Maternal hirsutism and autism spectrum disorders in offspring}}. {Autism Res};2017 (Apr 06)
Because animal and human studies indicate that androgen exposure can influence neurodevelopment, it has been hypothesized that prenatal exposure to excess androgens may predispose to disorders with male-skewed ratio such as autism spectrum disorders (ASD). Therefore, maternal conditions characterized by hyperandrogenism such as polycystic ovary syndrome (PCOS) or hirsutism may be relevant to child ASD. We previously found in a large Swedish case-control study of 23,748 ASD cases and 208,796 matched controls that PCOS in mothers is associated with increased offspring risk of ASD. In the same sample, we have now examined whether maternal diagnoses of hirsutism were associated with ASD. In both unadjusted logistic regression models and models adjusted for a variety of covariates, hirsutism was associated with higher odds of ASD. The most adjusted odds ratios for associations with ASD for hirsutism diagnosis before birth and lifetime diagnosis of hirsutism were 1.64 (95% CI: 0.94, 2.83) and 1.26 (95% CI: 1.01, 1.57), respectively. The presence of an association of maternal hirsutism with child ASD is consistent with the hypothesis that androgens may be involved in the etiology of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Liu JJ, Grace KP, Horner RL, Cortez MA, Shao Y, Jia Z. {{Neuroligin 3 R451C mutation alters electroencephalography spectral activity in an animal model of autism spectrum disorders}}. {Mol Brain};2017 (Apr 07);10(1):10.
Human studies demonstrate that sleep impairment is a concurrent comorbidity of autism spectrum disorders (ASD), but its etiology remains largely uncertain. One of the prominent theories of ASD suggests that an imbalance in synaptic excitation/inhibition may contribute to various aspects of ASD, including sleep impairments. Following the identification of Nlgn3R451C mutation in patients with ASD, its effects on synaptic transmission and social behaviours have been examined extensively in the mouse model. However, the contributory role of this mutation to sleep impairments in ASD remains unknown. In this study, we showed that Nlgn3R451C knock-in mice, an established genetic model for ASD, exhibited normal duration and distribution of sleep/wake states but significantly altered electroencephalography (EEG) power spectral profiles for wake and sleep.
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9. Liu L, Gao J, He X, Cai Y, Wang L, Fan X. {{Association between assisted reproductive technology and the risk of autism spectrum disorders in the offspring: a meta-analysis}}. {Sci Rep};2017 (Apr 07);7:46207.
The association between the use of assisted reproductive technology (ART) and autism spectrum disorder (ASD) risk in offspring has been explored in several studies, but the result is still inconclusive. We assessed the risk of ASD in offspring in relation to ART by conducting a meta-analysis. A literature search in PubMed, Embase, and Web of Knowledge databases through April 30, 2016 was conducted to identify all the relevant records. Risk ratios (RRs) and 95% confidence intervals (95%CIs) were computed to analyze the strength of association by using fixed- or random-effect models based on heterogeneity test in total and subgroup analyses. Analysis of the total 11 records (3 cohort studies and 8 case-control studies) revealed that the use of ART is associated with higher percentage of ASD (RR = 1.35, 95% CI: 1.09-1.68, P = 0.007). In addition, subgroup analyses based on study design, study location and study quality were conducted, and some subgroups also showed a statistically significant association. Our study indicated that the use of ART may associated with higher risk of ASD in the offspring. However, further prospective, large, and high-quality studies are still required.
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10. Morales-Hidalgo P, Roige-Castellvi J, Vigil-Colet A, Canals Sans J. {{The Childhood Autism Spectrum Test (CAST): Spanish adaptation and validation}}. {Autism Res};2017 (Apr 06)
The Childhood Autism Spectrum Test (CAST; Scott et al. Autism 2002; 6:9-31) has proved to be a good test for screening autism spectrum disorders (ASD) and social communication problems. This study provides evidence on the statistical properties of the CAST, specifically its validity, factorial structure and discriminative capacity as an ASD screening test, in a Spanish sample of 4-12 year-old children from community and clinical settings. The study concludes that the test was valid and reliable for ASD screening in Spanish clinical and community populations and allowed us to create a new abbreviated version. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A. {{Sustained Attention in the Face of Distractors: A Study of Children With Rett Syndrome}}. {Neuropsychology};2017 (Apr 06)
OBJECTIVE: The object of the present study is to advance our understanding of the cognitive profile of Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. We focus on sustained attention, which plays a critical role in driving cognitive growth, and use an innovative, gaze-based task that minimizes demands on the limited verbal and motor abilities associated with RTT. METHOD: The task required the ability to sustain attention on a visual target (a butterfly) while inhibiting a prepotent response to look to moving distractors (trees and clouds) presented in the peripheral visual field. The sample included children with RTT (N = 32) and their typically developing (TD) counterparts (N = 32), aged 2-12 years. RESULTS: Our findings revealed that children with RTT had more difficulty sustaining attention (with the TD group averaging 60% looking at the butterfly vs. only 25% for the RTT group). Furthermore, RTT was associated with difficulties in 3 fundamental factors influencing sustained attention: engagement, distractibility, and reengagement. The RTT group was slower to engage, more distractible, and slower to reengage. CONCLUSION: Our findings identify a fundamental disruption to sustained attention in RTT, determine factors related to this impairment, and pinpoint cognitive areas that could serve as markers for evaluating the effectiveness of pharmacological and behavioral interventions. (PsycINFO Database Record
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12. Scott O, Shi D, Andriashek D, Clark B, Goez HR. {{Clinical clues for autoimmunity and neuroinflammation in patients with autistic regression}}. {Dev Med Child Neurol};2017 (Apr 06)
AIM: Autistic regression is a unique variant within the autism spectrum disorders (ASDs), with recent reports raising the possibility of immune aetiology. This study explores clinical clues for an association between autistic regression and autoimmunity. METHOD: Single-centre charts of children diagnosed with ASD in 2014 were reviewed. We compared the rates of: (1) familial autoimmunity in first-degree and second-degree relatives; (2) febrile illness preceding initial parental concern, as a potential precipitant of immune activation; and (3) possible non-immune precipitants such as pregnancy and postnatal complications. RESULTS: The charts of 206 children with ASD and 33 diagnosed with autistic regression variant were reviewed. The incidence of febrile illness in the 6 months prior to initial parental concern was significantly higher in the children with autistic regression compared with those with ASD (30% vs 0%; p<0.001). The overall prevalence of familial autoimmunity was also higher in children with autistic regression compared with those with ASD (33% vs 12%; p<0.001). Type 1 diabetes and autoimmune thyroiditis were both more common in families with children with autistic regression. Other non-immune risk factors did not differ between the two groups. INTERPRETATION: Our findings suggest that predisposition to autoimmunity, and immune/inflammatory activation, may be associated with autistic regression. Lien vers le texte intégral (Open Access ou abonnement)
13. Valagussa G, Trentin L, Balatti V, Grossi E. {{Assessment of presentation patterns, clinical severity, and sensorial mechanism of tip-toe behavior in severe ASD subjects with intellectual disability: A cohort observational study}}. {Autism Res};2017 (Apr 06)
We assessed presentation patterns and characteristics of tip-toe behavior (TTB), more commonly known as toe walking, in a cohort of severe autism spectrum disorder (ASD) subjects with intellectual disability in two studies. The first study included 69 consecutive ASD subjects (57 males, mean age = 14 years-3.7 SD) under observation at our institute. A therapist assessed the presence of TTB during standing, walking, and running through direct observation and an interview with the subjects main caregiver. The prevalence of TTB was 32%. We found three clinical presentation patterns of TTB: (1) present when standing, walking and running (45.5%), (2) present when walking and running (18.4%), or (3) present only when running (36.4%). TTB subjects were more frequently nonverbal than those without TTB (72.7% vs. 44.6%-P = 0.03). On the other hand, no significant difference in ASD severity according to the ADOS scale was found between TTB and non-TTB subjects. In the second study, carried out in a subgroup of 14 ASD subjects (7 TTB and 7 non-TTB), we evidenced that a soft floor surface (foam mats) made a substantial difference in reducing the TTB phenomenon. TTB is frequently present in ASD individuals and may occur in three mutually exclusive modalities, which ultimately defines what is commonly known as toe walking. The presence of TTB seems correlated to the severity of language delay. Foot contact on soft surfaces reduces TTB both during static and/or dynamic tasks. Further evaluation is needed to clarify the potential pathophysiological implications of this phenomenon. Autism Res 2017,. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Yang YJ, Allen T, Abdullahi SM, Pelphrey KA, Volkmar FR, Chapman SB. {{Brain responses to biological motion predict treatment outcome in young adults with autism receiving Virtual Reality Social Cognition Training: Preliminary findings}}. {Behav Res Ther};2017 (Mar 29);93:55-66.
Autism Spectrum Disorder (ASD) is characterized by remarkable heterogeneity in social, communication, and behavioral deficits, creating a major barrier in identifying effective treatments for a given individual with ASD. To facilitate precision medicine in ASD, we utilized a well-validated biological motion neuroimaging task to identify pretreatment biomarkers that can accurately forecast the response to an evidence-based behavioral treatment, Virtual Reality-Social Cognition Training (VR-SCT). In a preliminary sample of 17 young adults with high-functioning ASD, we identified neural predictors of change in emotion recognition after VR-SCT. The predictors were characterized by the pretreatment brain activations to biological vs. scrambled motion in the neural circuits that support (a) language comprehension and interpretation of incongruent auditory emotions and prosody, and (b) processing socio-emotional experience and interpersonal affective information, as well as emotional regulation. The predictive value of the findings for individual adults with ASD was supported by regression-based multivariate pattern analyses with cross validation. To our knowledge, this is the first pilot study that shows neuroimaging-based predictive biomarkers for treatment effectiveness in adults with ASD. The findings have potentially far-reaching implications for developing more precise and effective treatments for ASD.
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15. Zantinge G, van Rijn S, Stockmann L, Swaab H. {{Psychophysiological responses to emotions of others in young children with autism spectrum disorders: Correlates of social functioning}}. {Autism Res};2017 (Apr 06)
Studying cognitive and affective mechanisms of social behavior could lead to identifying early indicators of derailing social behavior in young children with Autism Spectrum Disorders (ASD). The present study combined sensitive and objective techniques, such as eyetracking and psychophysiology, to provide insight into early neurodevelopmental mechanisms that are more difficult to uncover when relying on behavioral measures. Social attention towards faces and changes in affective arousal were investigated together in 28 young children with ASD (42-75 months) and 45 nonclinical controls (41-81 months). Children were shown a social-emotional video clip while eyetracking and heart rate were measured. Children with ASD fixated less on key social-emotional features within the clip as compared to controls, even though both groups attended equally toward the screen. In contrast to the control group, children with ASD did not show an increase or modulation in affective arousal in response to the social-emotional scenes. Severity of ASD symptoms, specifically social problems, was associated with arousal modulation and social attention within the ASD group. Early ASD symptoms are associated with impairments in fundamental building blocks of social behavior as expressed in a lack in spontaneous social attention and affective arousal. Such sensitive and objective measures of underlying mechanisms might serve as indicators for tailored approaches in treatment and may help in evaluating effectiveness of early interventions aimed at positively influencing social development and related quality of life in individuals with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
