Pubmed du 13/04/19

samedi 13 avril 2019

1. Altay MA. Family Physicians’ Awareness of Autism Spectrum Disorder : Results from a Survey Study. Open Access Maced J Med Sci. 2019 ; 7(6) : 967-72.

AIM : Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. Family physicians with the first medical contact of children are among the most frequent physicians with ASD. We aimed to investigate family physicians’ awareness of ASD. METHODS : This study was carried out family physicians in between September 25-October 15, 2018. The questionnaire form on autism awareness prepared by the researcher was delivered to family physicians electronically and in printed form, and it was filled out by volunteers. RESULTS : Forty-eight family physicians with an average professional experience of 16.9 +/- 8.8 years participated in the study. A group of 66.7% of the participants had not previously received education on ASD, and 70.8% of them did not refer any child to child psychiatry with suspected ASD in the last 6 months. The participants stated that the most common clinical features in children with ASD were the inability to make eye contact (72.9%) and repetitive movements (47.9%), and 56.3% of them stated one or more features that are not observed in ASD. The compliance of the participants’ answers about the clinical features observed in children with ASD with the DSM-5 criteria was determined to be 54.6 +/- 18.4%. Significantly higher compliance rates were observed in the participants with education on autism and those working as a physician below 15 years. CONCLUSION : In our study, family physicians’ awareness of ASD was not found to be adequate. Education programs on autism awareness should be applied to family physicians who are probably the most frequently encountered physicians by children with ASD.

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2. Billeci L, Calderoni S, Conti E, Lagomarsini A, Narzisi A, Gesi C, Carmassi C, Dell’Osso L, Cioni G, Muratori F, Guzzetta A. Brain Network Organization Correlates with Autistic Features in Preschoolers with Autism Spectrum Disorders and in Their Fathers : Preliminary Data from a DWI Analysis. J Clin Med. 2019 ; 8(4).

Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders that is characterized by an altered brain connectivity organization. Autistic traits below the clinical threshold (i.e., the broad autism phenotype ; BAP) are frequent among first-degree relatives of subjects with ASD ; however, little is known regarding whether subthreshold behavioral manifestations of ASD mirror also at the neuroanatomical level in parents of ASD probands. To this aim, we applied advanced diffusion network analysis to MRI of 16 dyads consisting of a child with ASD and his father in order to investigate : (i) the correlation between structural network organization and autistic features in preschoolers with ASD (all males ; age range 1.5-5.2 years) ; (ii) the correlation between structural network organization and BAP features in the fathers of individuals with ASD (fath-ASD). Local network measures significantly correlated with autism severity in ASD children and with BAP traits in fath-ASD, while no significant association emerged when considering the global measures of brain connectivity. Notably, an overlap of some brain regions that are crucial for social functioning (cingulum, superior temporal gyrus, inferior temporal gyrus, middle frontal gyrus, frontal pole, and amygdala) in patients with ASD and fath-ASD was detected, suggesting an intergenerational transmission of these neural substrates. Overall, the results of this study may help in elucidating the neurostructural endophenotype of ASD, paving the way for bridging connections between underlying genetic and ASD symptomatology.

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3. Bitsika V, Sharpley CF. The effects of ’preferedness of task’ on stress, emotion, and behaviour responses to forced activity transitions in boys with ASD. Int J Dev Neurosci. 2019.

BACKGROUND : Many children with Autism Spectrum Disorder (ASD) exhibit distress when asked to transition from one task to another. This study aimed to determine if physiological stress during transition was due to ASD-related rigidity or to their preference for some tasks over others. METHOD : The effects of change of task alone versus a change in task ’preferedness’ when undergoing forced activity transition were investigated in 29 boys with Autism Spectrum Disorder. RESULTS : Total sample data indicated a significant increase in heart rate (HR) during transition from a preferred to a non-preferred task, but not during transition from one preferred task to another preferred task, or from a non-preferred task to a preferred task. These data are suggestive of an effect due to the ’preferedness’ of the task rather than just the change in task alone. Two subgroups of participants emerged, one which followed the ’expected’ HR responsivity model to stress, and one which failed to follow that model. CONCLUSION : Transition-related distress may be confounded by preferredness of task when understanding transition stress in boys with ASD.

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4. Edgar JC, Dipiero M, McBride E, Green HL, Berman J, Ku M, Liu S, Blaskey L, Kuschner E, Airey M, Ross JL, Bloy L, Kim M, Koppers S, Gaetz W, Schultz RT, Roberts TPL. Abnormal maturation of the resting-state peak alpha frequency in children with autism spectrum disorder. Hum Brain Mapp. 2019.

Age-related changes in resting-state (RS) neural rhythms in typically developing children (TDC) but not children with autism spectrum disorder (ASD) suggest that RS measures may be of clinical use in ASD only for certain ages. The study examined this issue via assessing RS peak alpha frequency (PAF), a measure previous studies, have indicated as abnormal in ASD. RS magnetoencephalographic (MEG) data were obtained from 141 TDC (6.13-17.70 years) and 204 ASD (6.07-17.93 years). A source model with 15 regional sources projected the raw MEG surface data into brain source space. PAF was identified in each participant from the source showing the largest amplitude alpha activity (7-13 Hz). Given sex differences in PAF in TDC (females > males) and relatively few females in both groups, group comparisons were conducted examining only male TDC (N = 121) and ASD (N = 183). Regressions showed significant group slope differences, with an age-related increase in PAF in TDC (R(2) = 0.32) but not ASD (R(2) = 0.01). Analyses examining male children below or above 10-years-old (median split) indicated group effects only in the younger TDC (8.90 Hz) and ASD (9.84 Hz ; Cohen’s d = 1.05). In the older ASD, a higher nonverbal IQ was associated with a higher PAF. In the younger TDC, a faster speed of processing was associated with a higher PAF. PAF as a marker for ASD depends on age, with a RS alpha marker of more interest in younger versus older children with ASD. Associations between PAF and cognitive ability were also found to be age and group specific.

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5. Fong KNK, Ma WY, Pang HK, Tang PPK, Law LLF. Immediate effects of coloured overlays on the reading performance of preschool children with an autism spectrum disorder using eye tracking. Res Dev Disabil. 2019 ; 89 : 141-8.

BACKGROUND : Coloured overlays have often been used to improve reading performance in preschool children with an autism spectrum disorder (ASD), however, previous evidence shows conflicts in its application. AIMS : To investigate the immediate effects of coloured overlays on reading performance using eye tracking in preschool children with ASD and their typical development (TD) counterparts closely matched by chronological age. METHODS : Forty participants with ASD (n=20) or TD (n=20) were recruited by convenience sampling and asked to read aloud numbers randomly arranged on paper. Participants’ ocular performance (fixation duration, fixation count, total visit duration), reading speed and number of errors were recorded by eye tracker and digital stopwatch respectively throughout testing with and without coloured overlays. RESULTS : The findings show that coloured overlays had no significant immediate effect in improving ocular performance and reading speed of children with ASD or TD, although individual improvements were identified in some children with ASD. CONCLUSIONS : Use of coloured overlays may not be useful to improve reading and ocular performance in children with ASD in one single occasion. The potential effect on reading ability of using coloured overlays repetitively for a longer period needs further investigation.

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6. Funke A. Improving the quality of life of parents of children with developmental disabilities. Dev Med Child Neurol. 2019.

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7. Geelhand P, Bernard P, Klein O, van Tiel B, Kissine M. The role of gender in the perception of autism symptom severity and future behavioral development. Mol Autism. 2019 ; 10 : 16.

Background : Increasing attention is being paid to the higher prevalence of boys with Autism Spectrum Disorder (ASD) and to the implications of this ratio discrepancy on our understanding of autism in girls. One recent avenue of research has focused on caregiver’s concern, suggesting that autism might present differently in boys and girls. One unexplored factor related to concerns on child development is whether socio-cultural factors such as gender-related expectations influence the evaluation of symptom severity and predictions about future behavioral development. Methods : The latter concerns were the focus of the present study and were explored by investigating laypeople’s judgment of the severity of autism symptoms using an online parent role-playing paradigm, in which participants were asked to rate vignettes depicting the behaviors of a child in different everyday life scenarios. The child’s gender and the severity of ASD symptoms were manipulated to examine the effect of gender on the perception of symptom severity. Results : Results suggest that there are no gender differences in perceived symptom severity and associated degree of concern for 5-year-old boys and girls but that there is a gender difference in perceived future atypicality at 15 years old, with boys being rated as more likely to be perceived as atypical by their peers at that age than girls. Conclusions : Investigating parent’s cognition about their child’s future behavioral development can provide additional information regarding delayed diagnosis of autistic girls.

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8. Kascelan D, Katsos N, Gibson JL. Relations Between Bilingualism and Autistic-Like Traits in a General Population Sample of Primary School Children. J Autism Dev Disord. 2019.

Some evidence suggests that bilingualism improves communication and cognitive skills which are often impaired in autism. However, diagnosing autism in bilinguals may suffer a cultural bias, which can affect the investigation of bilingualism and autism. Therefore, the current study investigates relations between autistic-like traits (ALTs) and bilingualism in a general population sample of 394 children (M age = 8 ;3). Within the high-scoring group on the ALT measure, monolinguals had significantly higher ALT scores than bilinguals. There were no differences between monolinguals and bilinguals in the low-scoring group. Across the whole sample, age and structural language skills accounted for 35% variance in ALTs, while bilingualism had no effect on ALTs. Furthermore, structural language skills explained more variance in ALTs among bilinguals than among monolinguals.

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9. Moon SJ, Hwang JS, Shin AL, Kim JY, Bae SM, Sheehy-Knight J, Kim JW. Accuracy of the Childhood Autism Rating Scale : a systematic review and meta-analysis. Dev Med Child Neurol. 2019.

AIM : To assess the accuracy of the Childhood Autism Rating Scale (CARS) through systematic review and meta-analysis. METHOD : Studies that provided quantitative values for the reliability and validity for all versions of CARS were searched through MEDLINE, CINAHL, PsycINFO, Embase, and OpenDissertations. RESULTS : A total of 24 studies with 4433 participants were included in our analysis. Meta-analysis showed that the summary Cronbach’s alpha regarding a team of physicians and psychologists or others subgroup, derived from six studies (952 participants), was considered to be acceptable at 0.90 (95% confidence interval, 0.87-0.92) with moderate heterogeneity. Analysis of two ’low risk of bias’ studies on the criterion validity for CARS with a cut-off of 30 and DSM-IV resulted in sensitivity of 0.86 and 0.71 and specificity of 0.79 and 0.75. INTERPRETATION : Through the results of the current systematic review and meta-analysis, the internal consistency can be considered to be acceptable for a team of physicians and psychologists or others subgroup. In terms of the criterion validity, the sensitivity was thought to be acceptable although the specificity was not, suggesting that CARS should be used along with other confirmatory tools. WHAT THIS PAPER ADDS : The Childhood Autism Rating Scale can be considered as a supplementary diagnostic tool for autism spectrum disorder.

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10. Parish-Morris J, Pallathra AA, Ferguson E, Maddox BB, Pomykacz A, Perez LS, Bateman L, Pandey J, Schultz RT, Brodkin ES. Adaptation to different communicative contexts : an eye tracking study of autistic adults. J Neurodev Disord. 2019 ; 11(1) : 5.

BACKGROUND : Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only capable of attending to one aspect of a scene at a time. How do people choose where to allocate their visual resources when viewing complex social scenarios ? For typically developing (TD) individuals, faces are often given priority. Depending upon context, however, it may be more useful to attend to other aspects of the environment, such as hands, tools, or background objects. Previous studies reported reduced face looking in individuals with autism spectrum disorder (ASD), but modulation of visual attention in response to contextual differences (e.g., according to social richness, or the presence/absence of communicative behaviors between two people) has only briefly been explored. In this study, we used eye-tracking technology to test the extent to which ASD adults and TD adults use social context to guide their gaze behavior. METHODS : Fifty-five adults participated (28 with ASD). The location and duration of participants’ gaze were recorded while they watched a series of naturalistic social videos. Half of the videos depicted two people engaging in non-verbal communication (rich social scenes) while playing with toys. The other half depicted two people playing with toys separately, not interacting with each other (lean social scenes). RESULTS : ASD and TD adults both increased their attention to faces in communicative contexts (rich social scenes) as compared to non-communicative contexts (lean social scenes). However, TD adults increased their attention to faces significantly more when watching two people communicate than did ASD adults, who increased their attention to a lesser degree. Further analysis revealed that ASD adults persisted in looking at hands and toys, even when observing two people communicate in a rich social scene. CONCLUSIONS : Diminished gaze to faces when observing two people communicating may lead to fewer opportunities for social learning and subsequent reductions in social knowledge. Naturalistic measures of contextual modulation could help identify areas of need for individuals learning about the social world and could become treatment targets to improve everyday social learning.

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11. Rogge N, Janssen J. The Economic Costs of Autism Spectrum Disorder : A Literature Review. J Autism Dev Disord. 2019.

Autism is associated with a range of costs. This paper reviews the literature on estimating the economic costs of autism spectrum disorder (ASD). More or less 50 papers covering multiple countries (US, UK, Australia, Canada, Sweden, the Netherlands, etc.) were analysed. Six types of costs are discussed in depth : (i) medical and healthcare service costs, (ii) therapeutic costs, (iii) (special) education costs, (iv) costs of production loss for adults with ASD, (v) costs of informal care and lost productivity for family/caregivers, and (vi) costs of accommodation, respite care, and out-of-pocket expenses. A general finding is that individuals with ASD and families with children with ASD have higher costs. Education costs appear to be a major cost component for parents with children with ASD.

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12. Spann MN, Timonen-Soivio L, Suominen A, Cheslack-Postava K, McKeague IW, Sourander A, Brown AS. Proband and Familial Autoimmune Diseases Are Associated With Proband Diagnosis of Autism Spectrum Disorders. J Am Acad Child Adolesc Psychiatry. 2019.

OBJECTIVE : There is evidence that parental autoimmune diseases (ADs) are associated with autism spectrum disorders (ASD) in offspring. The association between offspring ASD and ADs diagnosed in siblings and probands remains less clear. We examined whether proband and familial diagnoses of ADs were associated with increased odds of ASD in probands. METHOD : The study is based on a nested case-control design that used data from a large national birth cohort (N = 1.2 million) in Finland. There were 4,600 cases of ASD and controls matched 1:4 on date of birth, sex, and residence. Data were accessed from national medical, birth, and central registries. RESULTS : Probands had a statistically significant increase in odds of ASD when they (adjusted odds ratio [OR] = 1.2), their mother (adjusted OR = 1.1), or their sibling (adjusted OR = 1.2) were diagnosed with an AD. With regard to specific ADs, we found a statistically significant increase in odds of ASD in probands diagnosed with autoimmune thyroiditis (adjusted OR = 2.7). Further analyses considering ADs by body system yielded a statistically significant increase in odds of ASD in probands with ADs associated with the central/peripheral nervous (adjusted OR = 4.8) and skin/mucous membrane (adjusted OR = 1.3) systems. Probands of mothers diagnosed with ear/eye (adjusted OR = 1.6) or respiratory (adjusted OR = 1.4) ADs, or siblings diagnosed with skin/mucous membrane ADs (adjusted OR = 1.3) also had increased odds of ASD. CONCLUSION : The findings suggest that there may be common pathogenic, developmental mechanisms related to autoimmunity that are associated with the etiology of ASD.

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13. Stadnick NA, Brookman-Frazee L, Mandell DS, Kuelbs CL, Coleman KJ, Sahms T, Aarons GA. A mixed methods study to adapt and implement integrated mental healthcare for children with autism spectrum disorder. Pilot and feasibility studies. 2019 ; 5 : 51.

Background : There is a critical need for effective implementation of integrated healthcare systems for children with autism spectrum disorder (ASD). Children with ASD have many service needs, including the need to access effective mental healthcare, given high rates of co-occurring psychiatric conditions. Pediatric primary care is an ongoing point of healthcare that is well positioned to identify mental health concerns and facilitate linkage to mental health services for children with ASD. However, identifying mental health problems in children with ASD by primary care providers is complex, subject to being overlooked and may significantly vary based on primary care organizational characteristics. Efforts targeting integrated primary-mental healthcare implementation require a tailored approach for children with ASD. Methods : This mixed methods, community-partnered study will apply the Exploration, Preparation, Implementation, Sustainment (EPIS) framework (Aarons et al., 2011 ; Moullin et al., in press) to adapt and implement an integrated care model, "Access to Tailored Autism INtegrated Care" (ATTAIN), in pediatric practices within three diverse healthcare settings for children ages 4-18 years. Key inner context factors from the Exploration, Preparation, and Implementation phases of the EPIS framework will guide three objectives of this study : (1) to identify targets to improve mental health screening and linkage to mental health services in primary care for children with ASD, (2) to adapt integrated care procedures to facilitate identification of mental health problems and linkage to evidence-based care for children with ASD, and (3) to examine feasibility, acceptability, and uptake of the adapted integrated mental healthcare model through a pilot study in pediatric primary care. Discussion : Improving integrated mental healthcare for children with ASD could have a significant public health impact on mental healthcare access, child clinical outcomes, and reduction in healthcare costs. Results from this mixed methods study will inform selection of implementation strategies to conduct larger-scale implementation of tailored integrated mental healthcare for children with ASD that will ultimately help to address the high unmet mental health needs for these children.

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14. Symons FJ, Barney CC, Byiers BJ, McAdams BD, Foster S, Feyma TJ, Wendelschafer-Crabb G, Kennedy WR. A clinical case-control comparison of epidermal innervation density in Rett syndrome. Brain and behavior. 2019 : e01285.

INTRODUCTION : Rett syndrome (RTT), a rare neurodevelopmental disorder occurring primarily in females (1:10-15,000 female live births), is most often caused by loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). Clinical observations and preclinical findings indicate apparent abnormal sensory and nociceptive function. There have been no direct investigations of epidermal sensory innervation in patients with RTT. METHODS : We compared 3 mm epidermal punch biopsy specimens from adolescent female RTT patients (N = 4, aged 12-19 years) against an archived approximate age-, sex-, body-site matched comparison sample of healthy adolescent females (N = 8, ages 11-17). RESULTS : Confocal imaging revealed, on average, statistically significant increased epidermal nerve fiber (ENF) peptidergic (co-stained calcitonin gene-related protein [CGRP]) innervation density compared with healthy female control individuals. CONCLUSIONS : Given the clinical phenotype of disrupted sensory function along with diagnostic criteria specific to cold hands/feet and insensitivity to pain, our preliminary observations of ENF peptidergic fiber density differences warrants further investigation of the peripheral neurobiology in RTT.

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15. You YH, Qin ZQ, Zhang HL, Yuan ZH, Yu X. MicroRNA-153 promotes brain-derived neurotrophic factor and hippocampal neuron proliferation to alleviate autism symptoms through inhibition of JAK-STAT pathway by LEPR. Bioscience reports. 2019.

Autism is a known as severe neurobehavioral syndrome, with males affected more often than females. Previous studies have revealed that microRNAs (miRNAs) play a critical role in the search for novel therapeutic strategies for autism. Therefore, we evaluate the ability of miR-153 to influence brain-derived neurotrophic factor (BDNF) of autism as well as proliferation and apoptosis of hippocampal neuron through the JAK-STAT signaling pathway by targeting leptin receptor (LEPR). Firstly, the autistic mice models were established and Morris water maze was employed for the analysis of the learning ability and memory of the mice. Besides, in vitro experiments were conducted with the transfection of different mimic, inhibitor or siRNA into the hippocampal neuron cells, after which the effect of miR-153 on LERP and the JAK-STAT signaling pathway-related factors was investigated. Next, MTT assay and flow cytometry assay were conducted to evaluate cell proliferation, cell cycle and apoptosis respectively following transfection. The results revealed that there was a significant decrease in learning ability and memory in the autistic mice along with a reduction in the positive expression rate of BDNF and serious inflammatory reaction. LEPR was confirmed as a target gene of miR-153 by the dual luciferase reporter gene assay. After transfection of overexpressed miR-153, LEPR and the JAK-STAT signaling pathway were inhibited followed by an increase in BDNF and enhancement of cell proliferation. In conclusion, the high expression of miR-153 can inhibit activation of JAK-STAT signaling pathway by LEPR, thus improving BDNF expression and the proliferative ability of hippocampal neurons.

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