Pubmed du 29/07/20

mercredi 29 juillet 2020

1. Bentz M, Westwood H, Jepsen JRM, Plessen KJ, Tchanturia K. The autism diagnostic observation schedule : Patterns in individuals with anorexia nervosa. Eur Eat Disord Rev ;2020 (Jul 29)

OBJECTIVE : Studies have used the Autism Diagnostic Observation Schedule (the ADOS-2) in individuals with anorexia nervosa (AN), but the patterns of scores have not been assessed. We examined which subset of the ADOS-2 items best discriminate individuals with AN from healthy controls (HC), and assessed the potential clustering of AN participants based on different profiles of the ADOS-2 item scores. METHOD : We combined datasets from two previous studies, and (a) compared mean ranks between young AN participants (N = 118) and HC (N = 42), (ii) replicated the item selection procedure of the existing ADOS-2 algorithm to assess sensitivity of items in the AN group, and (c) applied a two-step clustering analysis in the AN group (N = 149). RESULTS : AN participants displayed significantly higher mean ranks than HC participants in five of 32 items. All five items are part of the existing ADOS-2 algorithm. We found two clusters of AN participants ; one representing normal social behaviour, comprising 68% of the individuals with AN, and one representing less efficient social behaviour, comprising 32% of individuals with AN. CONCLUSIONS : The items comprising the social affective cluster of the existing ADOS-2 algorithm are well suited to assess difficulties with social functioning in individuals with AN.

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2. Dinstein I, Arazi A, Golan HM, Koller J, Elliott E, Gozes I, Shulman C, Shifman S, Raz R, Davidovitch N, Gev T, Aran A, Stolar O, Ben-Itzchak E, Snir IM, Israel-Yaacov S, Bauminger-Zviely N, Bonneh YS, Gal E, Shamay-Tsoory S, Zait AZ, Hadad BS, Gross R, Faroy M, Bachmat E, Eran A, Uzefovsky F, Flusser H, Michaelovski A, Levine SZ, Kodesh A, Gothelf D, Marom D, Feldman HB, Yosef DB, Bloch AM, Sadaka Y, Schtaierman C, Davidovitch M, Begin M, Gabis LV, Zachor D, Menashe I, Golan O, Meiri G. The National Autism Database of Israel : a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy. J Mol Neurosci ;2020 (Jul 28)

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3. Kushak RI, Winter HS. Gut Microbiota and Gender in Autism Spectrum Disorders. Curr Pediatr Rev ;2020 (Jul 27)

Gender dimorphism in autism spectrum disorders (ASD) is well known ; however, the reasons for gender differences in autism are poorly understood. There are several hypotheses that might explain male prevalence in ASD including increased levels of androgens, "extreme male brain," and a combination of elevated levels of prenatal testosterone in conjunction with prenatal stress. In this review, differences in the gut microbiome and metabolome in humans and animals are described to explain gender differences in individuals with ASD, effects on behavior and social interactions and the impact of antibiotics, probiotics and fecal transplants. The bidirectional relationship between sex hormones and intestinal microbiota could also be relevant. Such interactions have been described in autoimmune diseases, but thus far are not implicated in ASD. We hypothesize that similar cross-talk exists in ASD between gut microbiota and sex hormones. Since intestinal microbiota may affect behavior, it is possible that prevalence of ASD in boys may be associated with more significant changes in the intestinal microbiome than in affected girls.

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4. Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies. Clin Genet ;2020 (Jul 27)

De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies (IDDSADF, OMIM : # 618672)). The patients present with a variable degree of developmental delay and behavioral problems. To date, all reported disease causing variants occurred de novo and no parent-child transmission was observed. We report for the first time autosomal dominant transmissions of the CNOT3-associated developmental disorder in two unrelated families. The clinical characteristics in our patients match the IDDSADF features reported so far and suggest substantial variability of the phenotype within the same family.

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5. Vicedo M, Ilerbaig J. Autism in Baltimore, 1938-1943. J Autism Dev Disord ;2020 (Jul 27)

This paper examines the genesis of Leo Kanner’s 1943 seminal paper on autism. It shows that describing children as autistic or lacking affective contact with people was not new by this time. But Kanner’s proposal that infantile autism constituted a hitherto unidentified condition that was inborn and different from childhood schizophrenia was new. It also shows that Georg Frankl’s influence on Kanner was important, but Kanner did not misappropriate his ideas or his research. Kanner developed his views on the basis of his observations of several children, his knowledge of the literature on childhood conditions, and his interactions with many scholars.

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6. Zou M, Li D, Wang L, Li L, Xie S, Liu Y, Xia W, Sun C, Wu L. Identification of Amino Acid Dysregulation as a Potential Biomarker for Autism Spectrum Disorder in China. Neurotox Res ;2020 (Jul 27)

Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders accompanied by dysregulation of amino acid (AA) metabolism, and for which there are currently no reliable early diagnostic biomarkers. This study evaluated whether specific AAs can serve as biomarkers for screening ASD patients by analyzing the abundance 21 plasma AAs in 70 ASD patients and 70 control subjects by liquid chromatography-tandem mass spectrometry. We found significant differences between the two groups for eight of the AAs-namely, arginine, cysteine, homocysteine, histidine, methionine, serine, tyrosine, and valine. However, only homocysteine level was positively correlated with ASD symptom severity. Arginine, cysteine, histidine, and methionine were used to generate a predictive model in the Fisher discriminant analysis ; cross-validation of this model showed that 88.6% of individuals were correctly segregated into ASD and healthy subject groups with a sensitivity of 85.5% and specificity of 92.2%. The area under the receiver operating characteristic curve was 0.959 (0.927-0.991). Thus, detection of a combination of AAs is an effective method for distinguishing ASD patients from healthy subjects, which may be useful for the early diagnosis of ASD.

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7. Townend GS, Bartolotta TE, Urbanowicz A, Wandin H, Curfs LMG. Development of consensus-based guidelines for managing communication of individuals with Rett syndrome. Augment Altern Commun ;2020 (Jul 28):1-11.

Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements and recommendations extracted from a review of over 300 pieces of literature combined with survey responses from communication professionals and caregivers. All statements that reached a pre-determined threshold of ≥70% agreement were incorporated into guidelines that consist of 268 statements and recommendations relating to (a) rights of the individual ; (b) beliefs and attitudes of communication partners ; (c) professional knowledge and team work ; (d) strategies to optimize engagement ; (e) assessment ; and (f) intervention (targets and goals, techniques), including the use of AAC. To date, this project is the largest of its kind, with 650 participants from 43 countries contributing to development of consensus-based guidelines for Rett syndrome.

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8. Rezae M, McMeekin D, Tan T, Krishna A, Lee H. Evaluating the effectiveness of an autism-specific public transport app for individuals on the autism spectrum : a pilot study. Disabil Rehabil Assist Technol ;2020 (Jul 28):1-16.

PURPOSE : Autism is characterised by differences in social skills, limited communication abilities and repetitive behaviour, which often result in increased reliance on other people. Transportation is but one task that is commonly burdened on family members. Public transport is an inexpensive and widely available form of travel which facilitates independence. However, it presents unique challenges for individuals on the spectrum, as it requires complex skills including, but not limited to, understanding abstract information (e.g., maps, service schedules, etc.), problem-solving unexpected situations and timely management of transfers. As such, most individuals on the autism spectrum do not use public transport and have never considered using it. Here we evaluate the effectiveness of an autism-specific public transport app, OrienTrip, with autistic individuals and allied health professionals. METHODS : A total of 16 individuals on the autism spectrum (eight male and eight female participants) and 22 allied health professionals (19 females and three male participants) were recruited for the pilot study. RESULTS : We found that OrienTrip is effective in facilitating public transport use for autistic individuals. Individuals on the autism spectrum expressed their satisfaction with the app and agreed that it makes public transport easy to use. Similarly, allied health professionals also indicated that OrienTrip is helpful in assisting autistic individuals use public transport safely. CONCLUSION : Our findings demonstrate that OrienTrip can be used to facilitate independent travel for individuals on the autism spectrum using public transport. This can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes. Implications for rehabilitation Individuals on the autism spectrum heavily rely on other people, namely family members, for their transportation needs. Public transport is an inexpensive and widely available form of travel which facilitates independence ; however, it presents unique challenges for autistic individuals, as such, most individuals do not use it or consider using it. In this research, we have developed and evaluated one of the first autism-specific public transport mobile apps that facilitates independent public transport use. This tool can improve community participation opportunities for autistic individuals, including enhanced education, employment and social outcomes.

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9. Scheggi S, Guzzi F, Braccagni G, De Montis MG, Parenti M, Gambarana C. Targeting PPARα in the rat valproic acid model of autism : focus on social motivational impairment and sex-related differences. Mol Autism ;2020 (Jul 27) ;11(1):62.

BACKGROUND : The social motivational theory of autism spectrum disorder (ASD) focuses on social anhedonia as key causal feature of the impaired peer relationships that characterize ASD patients. ASD prevalence is higher in boys, but increasing evidence suggests underdiagnosis and undertreatment in girls. We showed that stress-induced motivational anhedonia is relieved by repeated treatment with fenofibrate (FBR), a peroxisome proliferator-activated receptor α (PPARα) agonist. Here, we used the valproic acid (VPA) model of ASD in rats to examine male and female phenotypes and assess whether FBR administration from weaning to young adulthood relieved social impairments. METHODS : Male and female rats exposed to saline or VPA at gestational day 12.5 received standard or FBR-enriched diet from postnatal day 21 to 48-53, when behavioral tests and ex vivo neurochemical analyses were performed. Phosphorylation levels of DARPP-32 in response to social and nonsocial cues, as index of dopamine D(1) receptor activation, levels of expression of PPARα, vesicular glutamatergic and GABAergic transporters, and postsynaptic density protein PSD-95 were analyzed by immunoblotting in selected brain regions. RESULTS : FBR administration relieved social impairment and perseverative behavior in VPA-exposed male and female rats, but it was only effective on female stereotypies. Dopamine D(1) receptor signaling triggered by social interaction in the nucleus accumbens shell was blunted in VPA-exposed rats, and it was rescued by FBR treatment only in males. VPA-exposed rats of both sexes exhibited an increased ratio of striatal excitatory over inhibitory synaptic markers that was normalized by FBR treatment. LIMITATIONS : This study did not directly address the extent of motivational deficit in VPA-exposed rats and whether FBR administration restored the likely decreased motivation to operate for social reward. Future studies using operant behavior protocols will address this relevant issue. CONCLUSIONS : The results support the involvement of impaired motivational mechanisms in ASD-like social deficits and suggest the rationale for a possible pharmacological treatment. Moreover, the study highlights sex-related differences in the expression of ASD-like symptoms and their differential responses to FBR treatment.

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10. Stewart SL, Babcock SE, Li Y, Dave HP. A psychometric evaluation of the interRAI Child and Youth Mental Health instruments (ChYMH) anxiety scale in children with and without developmental disabilities. BMC Psychiatry ;2020 (Jul 29) ;20(1):390.

BACKGROUND : With 10 to 20% of Canadian children suffering with mental illness, the importance of early identification and accurate assessment systems is clear. Unfortunately, many do not receive the mental health treatment necessary and wait-times for assessment can span up to a year. In response, the interRAI suite of assessments were designed to comprehensively assess early signs of mental health impairments in children from birth to 18 years. METHODS : This study assesses the psychometric properties of the Anxiety Scale and addresses the identification of anxiety within children diagnosed with intellectual and developmental disabilities (IDD) ; a commonly underrepresented sample in mental health psychometric studies. Data was collected from children aged 4-18 years in three different samples. RESULTS : Results indicated reliable internal consistency and factor structure, as well as moderate-to-strong convergent validity. CONCLUSIONS : We conclude that the Anxiety Scale exhibits psychometric qualities which demonstrate its clinical utility for use within a child sample, as well as in children with IDD. The findings provide support to a larger body of research which show consistent psychometric rigour of the interRAI measures.

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11. Kurek M, Borowska B, Lubowiedzka-Gontarek B, Rosset I, Żądzińska E. Disturbances in primary dental enamel in Polish autistic children. Sci Rep ;2020 (Jul 29) ;10(1):12751.

Dental enamel is a structure that is formed as a result of the regular functioning of ameloblasts. The knowledge of the patterns of enamel secretion allows an analysis of their disruptions manifested in pronounced additional accentuated lines. These lines represent a physiological response to stress experienced during enamel development. The aim of this study was to assess the occurrence of accentuated lines in the tooth enamel of autistic boys. The width of the neonatal line and the periodicity of the striae of Retzius were also assessed. The study material consisted of longitudinal ground sections of 56 primary teeth (incisors and molars) : 22 teeth from autistic children and 34 teeth from the control group. The Mann-Whitney U test indicates that the accentuated lines were found significantly more often in autistic children (Z = 3.03 ; p = 0.002). No differentiation in the rate of enamel formation and in the rate of regaining homeostasis after childbirth were found. The obtained results may indicate a higher sensitivity of autistic children to stress factors, manifested in more frequent disturbances in the functioning of ameloblasts or may be a reflection of differences in the occurrence of stress factors in the first years of life in both analyzed groups.

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12. Weiland RF, Polderman TJ, Hoekstra RA, Smit DJ, Begeer S. The Dutch Sensory Perception Quotient-Short in adults with and without autism. Autism ;2020 (Jul 28):1362361320942085.

Individuals on the autism spectrum often experience heightened or reduced sensory sensitivities. This feature was recently added to the diagnostic manual for autism (Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM-5)). To measure sensory sensitivities, the Sensory Perception Quotient (SPQ) has been developed. In this study, we tested whether a Dutch translation of the abridged SPQ-Short yields similar results as the original English version. We also tested whether this questionnaire can measure modality specific sensitivities. To this end, 657 adults with autism spectrum disorder and 585 adults without an autism spectrum disorder diagnosis filled out the Dutch SPQ-Short. The Dutch questionnaire data were very similar to the original English version : adults with autism spectrum disorder were more sensitive compared with adults without autism spectrum disorder. Women with autism spectrum disorder are more sensitive compared with men with autism spectrum disorder. Gender did not have an effect in the group without autism spectrum disorder. Individuals reporting higher sensory sensitivities also reported more autistic traits (such as lower social interests, or increased fascination for patterns). Finally, we found that the Dutch SPQ-Short is suited to measure modality-specific sensitivities. We conclude that the Dutch translation is a viable tool to measure sensory sensitivities in adults with and without autism spectrum disorder and can be used to further our understanding of differences in perception in people with or without autism spectrum disorder.

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13. Dawson-Squibb JJ, de Vries PJ. A comparative feasibility study of two parent education and training programmes for autism spectrum disorder in a low-resource South African setting. Autism ;2020 (Jul 28):1362361320942988.

After a diagnosis of autism, it is an important first step to give families information about autism and skills to help them support their child. These interventions are called Parent Education and Training programmes. Little is known about these programmes or if they can make a difference to families, particularly in countries with few autism resources. In this study, we compared two Parent Education and Training programmes in South Africa. EarlyBird/EarlyBird Plus was developed in the United Kingdom, and Autism Cares in South Africa. We wanted to know if parents found the programmes useful, and if any changes were required. We collected information from parents through questionnaires and interviews before and after the group. We also asked a panel of experts (including parents) to compare the programmes. In total, 18 parents attended the EarlyBird/EarlyBird Plus group and 11 attended the Autism Cares group. Parents found both programmes helpful and made suggestions for improvements. Parents showed less stress, more knowledge of autism, and saw improvements in their children. The expert panel rated EarlyBird/EarlyBird Plus as better because it was more supportive of parents and was seen as easier to run in the country. Our study showed that Parent Education and Training programmes are important, but that researchers must study not only the outcomes but also the implementation needs of these programmes.

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14. Liu Q, Hsieh WY, Chen G. A systematic review and meta-analysis of parent-mediated intervention for children and adolescents with autism spectrum disorder in mainland China, Hong Kong, and Taiwan. Autism ;2020 (Jul 28):1362361320943380.

The ideal dosage for early intensive interventions for autism spectrum disorder has been suggested to be at least 25-hour per week to reach optimal effects. However, insufficient service use and unmet needs among families with children with autism spectrum disorder are frequently reported worldwide. Helping parents to develop strategies for interaction and management of behavior through parent training has been demonstrated to be a prominent way to supplementing service insufficiency for autism spectrum disorder, which is particularly crucial in less-resourced areas. This review included 21 parent-mediated intervention programs conducted in China, the most populated developing country. Among them, we were able to combine outcome information from 12 randomized controlled trials to increase confidence in the results. We also rated the quality of methodology and evidence for all included studies, which was taken into account in making conclusions. The included programs varied in the content, length, and delivery method of trainings. Although targeting different training outcomes, the majority of the studies aimed to help parents be more competent and responsive during interactions with their child in order to decrease symptom severity. Overall, results showed sufficient evidence that parent training did improve child outcomes as intended. However, the quality of more than half (14/21) of the included studies were below satisfactory. Identified programs lack the capacity to be further transported in the Chinese societies due to the lack of solid theoretical foundations, implementation manuals, and appropriate cultural adaptations. This review reinforces the need for promotion and improvement of parent-mediated interventions in low-resource context.

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