1. Arnett AB, Hudac CM, DesChamps TD, Cairney BE, Gerdts J, Wallace AS, Bernier RA, Webb SJ. {{Auditory perception is associated with implicit language learning and receptive language ability in autism spectrum disorder}}. {Brain and language}. 2018; 187: 1-8.
BACKGROUND: Autism spectrum disorder (ASD) is associated with language impairment as well as atypical auditory sensory processing. The current study investigated associations among auditory perception, implicit language learning and receptive language ability in youth with ASD. METHODS: We measured auditory event related potentials (ERP) during an artificial language statistical learning task in 76 youth with ASD and 27 neurotypical (NT) controls. Participants with ASD had a broad range of cognitive and language abilities. RESULTS: NT youth showed evidence of implicit learning via attenuated P1 amplitude in the left hemisphere. In contrast, among youth with ASD, implicit learning elicited bilateral attenuation that was increasingly evident with greater receptive language skill. CONCLUSIONS: Efficient early auditory perception reflects language learning and is a marker of language ability among youth with ASD. Atypical lateralization of word learning is evident in ASD across a broad range of receptive language abilities.
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2. Black LI, Zablotsky B. {{Chronic School Absenteeism Among Children With Selected Developmental Disabilities: National Health Interview Survey, 2014-2016}}. {National health statistics reports}. 2018; (118): 1-7.
In the United States, 14% of all public school students are chronically absent from school, missing 15 or more days per year (1). Chronic school absenteeism has been associated with poor academic performance, poor school engagement, and greater school dropout (2,3). Previous research has also found that children with chronic health conditions are more likely to have suboptimal school achievement, such as an inability to complete high school or obtain a GED, when compared with youth who did not have a chronic health condition (4). Past research has explored associations between school attendance and health conditions; however, studies have been limited in size and were not nationally representative (5,6). Further, many studies focused on chronic physical health conditions and few explored relationships for individual developmental disabilities (DDs) (7). This report examines the association between selected DDs and chronic school absenteeism among children aged 5-17 years using the National Health Interview Survey (NHIS).
3. Hulbert SW, Bey AL, Jiang YH. {{Environmental enrichment has minimal effects on behavior in the Shank3 complete knockout model of autism spectrum disorder}}. {Brain and behavior}. 2018: e01107.
INTRODUCTION: Several studies have supported the use of enriched environments to prevent the manifestation of ASD-like phenotypes in laboratory rodents. While the translational value of such experiments is unknown, the findings have been relatively consistent across many different models. METHODS: In the current study, we tested the effects of early environmental enrichment on a mouse model of ASD with high construct validity, the Shank3 e4-22 mice our laboratory previously generated and characterized. RESULTS: Contrary to previous reports, we found no benefits of enriched rearing, including no change in repetitive self-grooming or hole-board exploration. Instead, we found that early environmental enrichment increased anxiety-like behavior in all mice regardless of genotype and decreased motor performance specifically in wild-type mice. CONCLUSIONS: Although using a different enrichment protocol may have rescued the phenotypes in our mouse model, these results suggest that a « one-size fits all » approach may not be the best when it comes to behavioral intervention for ASD and underscores the need for effective pharmaceutical development in certain genetic syndromes with severe symptom presentation.
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4. Knuppel A, Telleus GK, Jakobsen H, Lauritsen MB. {{Quality of life in adolescents and adults with autism spectrum disorder: Results from a nationwide Danish survey using self-reports and parental proxy-reports}}. {Research in developmental disabilities}. 2018; 83: 247-59.
BACKGROUND: Quality of life (QoL) in individuals with autism spectrum disorder (ASD) is essential to investigate with regard to knowledge about factors of importance for QoL and concordance between self-reported and parental proxy-reported QoL. AIMS: This study investigated QoL in adolescents and adults with ASD using both self-reports and parental proxy-reports. METHODS: From a nationwide survey, 1738 individuals diagnosed with ASD in childhood, were included for this study. The individuals themselves and/or their parents completed the INICO-FEAPS scale. Concordance between self-reports and proxy-reports were examined, and factors associated with QoL were explored via linear regression models. RESULTS: Compared to proxy-reported QoL scores, self-reported QoL scores were significantly but only slightly higher and not in every QoL domain. Independent of respondent type it was found that psychiatric comorbidity, sleeping difficulty, intellectual disability, maladaptive behavior, adaptive functioning, autism symptomatology, main daytime activity and residence were associated with QoL. CONCLUSION: Proxy-reported QoL is different from self-reported QoL and should be considered as an alternative source of information. QoL might be enhanced when factors associated with QoL are improved. However, large variations in QoL were found for most factors, suggesting the need to involve the individuals with ASD and/or their families when improving their QoL.
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5. Kozhemiako N, Vakorin V, Nunes AS, Iarocci G, Ribary U, Doesburg SM. {{Extreme male developmental trajectories of homotopic brain connectivity in autism}}. {Human brain mapping}. 2018.
It has been proposed that autism spectrum disorder (ASD) may be characterized by an extreme male brain (EMB) pattern of brain development. Here, we performed the first investigation of how age-related changes in functional brain connectivity may be expressed differently in females and males with ASD. We analyzed resting-state functional magnetic resonance imaging data of 107 typically developing (TD) females, 114 TD males, 104 females, and 115 males with ASD (6-26 years) from the autism brain imaging data exchange repository. We explored how interhemispheric homotopic connectivity and its maturational curvatures change across groups. Differences between ASD and TD and between females and males with ASD were observed for the rate of changes in connectivity in the absence of overall differences in connectivity. The largest portion of variance in age-related changes in connectivity was described through similarities between TD males, ASD males, and ASD females, in contrast to TD females. We found that shape of developmental curvature is associated with symptomatology in both males and females with ASD. We demonstrated that females and males with ASD tended to follow the male pattern of developmental changes in interhemispheric connectivity, supporting the EMB theory of ASD.
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6. Lehoux T, Carrier J, Godbout R. {{NREM sleep EEG slow waves in autistic and typically developing children: Morphological characteristics and scalp distribution}}. {Journal of sleep research}. 2018: e12775.
Autism is a developmental disorder with a neurobiological aetiology. Studies of the autistic brain identified atypical developmental trajectories that may lead to an impaired capacity to modulate electroencephalogram activity during sleep. We assessed the topography and characteristics of non-rapid eye movement sleep electroencephalogram slow waves in 26 boys aged between 6 and 13 years old: 13 with an autism spectrum disorder and 13 typically developing. None of the participants was medicated, intellectually disabled, reported poor sleep, or suffered from medical co-morbidities. Results are derived from a second consecutive night of polysomnography in a sleep laboratory. Slow waves (0.3-4.0 Hz; >75 microV) were automatically detected on artefact-free sections of non-rapid eye movement sleep along the anteroposterior axis in frontal, central, parietal and occipital derivations. Slow wave density (number per minute), amplitude (microV), slope (microV s(-1) ) and duration (s) were computed for the first four non-rapid eye movement periods. Slow wave characteristics comparisons between groups, derivations and non-rapid eye movement periods were assessed with three-way mixed ANOVAs. Slow wave density, amplitude, slope and duration were higher in anterior compared with most posterior derivations in both groups. Children with autism spectrum disorder showed lower differences in slow waves between recording sites along the anteroposterior axis than typically developing children. These group differences in the topography of slow wave characteristics were stable across the night. We propose that slow waves during non-rapid eye movement sleep could be an electrophysiological marker of the deviant cortical maturation in autism linked to an atypical functioning of thalamo-cortical networks.
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7. Lim YH, Lee HC, Falkmer T, Allison GT, Tan T, Lee WL, Morris SL. {{Effect of Optic Flow on Postural Control in Children and Adults with Autism Spectrum Disorder}}. {Neuroscience}. 2018.
Individuals with autism spectrum disorder (ASD) have been associated with sensorimotor difficulties, commonly presented by poor postural control. Postural control is necessary for all motor behaviors. However, findings concerning the effect of visual motion on postural control and the age progression of postural control in individuals with ASD are inconsistent. The aims of the present study were to examine postural responses to optic flow in children and adults with and without ASD, postural responses to optic flow in the central and peripheral visual fields, and the changes in postural responses between the child and adult groups. Thirty-three children (8-12years old) and 33 adults (18-50years old) with and without ASD were assessed on quiet standing for 60s under conditions of varying optic flow illusions, consisting of different combinations of optic flow directions and visual field display. The results showed that postural responses to most optic flow conditions were comparable between children with and without ASD and between adults with and without ASD. However, adults with ASD appeared more responsive to forward-moving optic flow in the peripheral visual field compared with typically developed adults. The findings suggest that children and adults with ASD may not display maladaptive postural responses all the time. In addition, adults in the ASD group may have difficulties prioritizing visual information in the central visual field over visual information in the peripheral visual field when in unfamiliar environments, which may have implications in understanding their motor behaviors in new surroundings.
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8. Ohmura Y, Ichikawa I, Kumagaya S, Kuniyoshi Y. {{Stapedial reflex threshold predicts individual loudness tolerance for people with autistic spectrum disorders}}. {Experimental brain research}. 2018.
People with autism spectrum disorder (ASD) frequently show the symptoms of oversensitivity to sound (hyperacusis). Although the previous studies have investigated methods for quantifying hyperacusis in ASD, appropriate physiological signs for quantifying hyperacusis in ASD remain poorly understood. Here, we investigated the relationship of loudness tolerance with the threshold of the stapedial reflex and with contralateral suppression of the distortion product otoacoustic emissions, which has been suggested to be related to hyperacusis in people without ASD. We tested an ASD group and a neurotypical group. The results revealed that only the stapedial reflex threshold was significantly correlated with loudness tolerance in both groups. In addition to reduced loudness tolerance, people with lower stapedial reflex thresholds also exhibited higher scores on the Social Responsiveness Scale-2.
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9. Rasmussen L, Bilenberg N, Thomsen Ernst M, Abitz Boysen S, Pottegard A. {{Use of Psychotropic Drugs among Children and Adolescents with Autism Spectrum Disorders in Denmark: A Nationwide Drug Utilization Study}}. {Journal of clinical medicine}. 2018; 7(10).
Children with autism spectrum disorder (ASD) have a considerable use of psychotropics. Leveraging nationwide registry data, we aimed to describe the use of psychotropics among children and adolescents with ASD in Denmark. Use of melatonin and attention-deficit/hyperactivity disorder (ADHD) medication increased from 2010 to 2017, while there were limited changes in use of antidepressants and antipsychotics. Thirty percent of the identified children used psychotropics in 2017 most commonly ADHD medication (17%) and melatonin (13%). Methylphenidate, sertraline and risperidone were most often prescribed. Most children filled more than one prescription and, across drug classes, at least 38% received treatment two years after treatment initiation. Use of psychotropics followed psychiatric comorbidities. Comorbidities did not affect age at treatment initiation. Use of psychotropics varied according to age and sex with limited use in the youngest children. In summary, psychotropic drug use has increased in children with ASD mainly due to an increase in the use of ADHD medication and melatonin. In accordance with previous studies, use seems to follow comorbidities. The long treatment duration underlines the need to investigate long-term effects of psychotropic drug use in children with ASD.
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10. Tessier MP, Pennestri MH, Godbout R. {{Heart rate variability of typically developing and autistic children and adults before, during and after sleep}}. {International journal of psychophysiology : official journal of the International Organization of Psychophysiology}. 2018; 134: 15-21.
INTRODUCTION: Studies suggest a sympathetic-parasympathetic disequilibrium in children with autism spectrum disorder (ASD), compared to typically developing (TD) children. The autonomic nervous system (ANS) shows profound modification with age but studies in ASD adults are lacking. The ANS is also influenced by vigilance states such as wakefulness and sleep. The aim of this study is to explore differences in ANS activity in typically developing (TD) and ASD individuals during sleep and wakefulness, as a function of age. METHODS: Four groups of participants (17 adults with ASD, 16 TD adults, 13 children with ASD and 13 TD children) were recorded for two consecutive nights in a sleep laboratory. Electrocardiogram (ECG) was sampled during wakefulness (before and after sleep) and during stage N2 and REM sleep. Groups were compared on their heart rate variability parameters (LFnu, HFnu, LF/HF ratio) in each vigilance state. RESULTS: Results show that ASD adults had lower HFnu in the morning than TD adults (p<0.05). During REM sleep, adults had higher LF/HF ratio than children, regardless of their clinical status (p<0.05). CONCLUSIONS: Results of this study show autonomic distinctiveness during wakefulness specifically in ASD adults, suggesting a lower parasympathetic activity in the morning. Whether this characteristic represents a developmental feature or is related to lower sleep quality remains to be clarified. Lien vers le texte intégral (Open Access ou abonnement)
11. Zhao X, Zhang Y, Wilkins K, Edelmann W, Usdin K. {{MutLgamma promotes repeat expansion in a Fragile X mouse model while EXO1 is protective}}. {PLoS genetics}. 2018; 14(10): e1007719.
The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases resulting from an expansion of a CGG-repeat tract at the 5′ end of the FMR1 gene. The mechanism responsible for this unusual mutation is not fully understood. We have previously shown that mismatch repair (MMR) complexes, MSH2/MSH3 (MutSbeta) and MSH2/MSH6 (MutSalpha), together with Polbeta, a DNA polymerase important for base excision repair (BER), are important for expansions in a mouse model of these disorders. Here we show that MLH1/MLH3 (MutLgamma), a protein complex that can act downstream of MutSbeta in MMR, is also required for all germ line and somatic expansions. However, exonuclease I (EXO1), which acts downstream of MutL proteins in MMR, is not required. In fact, a null mutation in Exo1 results in more extensive germ line and somatic expansions than is seen in Exo1+/+ animals. Furthermore, mice homozygous for a point mutation (D173A) in Exo1 that eliminates its nuclease activity but retains its native conformation, shows a level of expansion that is intermediate between Exo1+/+ and Exo1-/- animals. Thus, our data suggests that expansion of the FX repeat in this mouse model occurs via a MutLgamma-dependent, EXO1-independent pathway, with EXO1 protecting against expansion both in a nuclease-dependent and a nuclease-independent manner. Our data thus have implications for the expansion mechanism and add to our understanding of the genetic factors that may be modifiers of expansion risk in humans.
