Pubmed du 07/02/19

jeudi 7 février 2019

1. Anderson J, Hirose S. Gastroschisis and Autism-Dual Canaries in the Californian Coalmine-Reply. JAMA surgery. 2019.

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2. Bacchelli E, Loi E, Cameli C, Moi L, Benedetti AFV, Blois S, Fadda A, Bonora E, Mattu S, Fadda R, Chessa R, Maestrini E, Doneddu G, Zavattari P. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene. J Clin Med. 2019 ; 8(2).

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving CAPG, ELMOD3, and SH2D6 genes, in both siblings. CAPG encodes for a postsynaptic density (PSD) protein known to regulate spine morphogenesis and synaptic formation. The reduced CAPG mRNA and protein expression levels in ASD patients, in the presence of hemizygosity or a particular genetic and/or epigenetic background, highlighted the functional relevance of CAPG as a candidate gene for ASD. WES analysis led to the identification in both affected siblings of a rare frameshift mutation in VDAC3, a gene intolerant to loss of function mutation, encoding for a voltage-dependent anion channel localized on PSD. Moreover, four missense damaging variants were identified in genes intolerant to loss of function variation encoding for PSD proteins : PLXNA2, KCTD16, ARHGAP21, and SLC4A1. This study identifies CAPG and VDAC3 as candidate genes and provides additional support for genes encoding PSD proteins in ASD susceptibility.

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3. Coleman DM, Adams JB, Anderson AL, Frye RE. Rating of the Effectiveness of 26 Psychiatric and Seizure Medications for Autism Spectrum Disorder : Results of a National Survey. J Child Adolesc Psychopharmacol. 2019.

OBJECTIVE : The objective of this study was to provide an evaluation of the benefits and adverse effects (AEs) of psychiatric and seizure medications commonly used for individuals with autism spectrum disorder (ASD). METHODS : As part of the National Survey on Treatment Effectiveness for Autism, we report ratings of 26 psychiatric and seizure medications by 505 participants. Each medication was rated with a standardized scale for overall benefits, overall AEs, and specific symptoms affected. The frequency of use and net perceived benefit (overall benefit minus overall AE) are reported. RESULTS : Most medications were rated as having a slightly greater benefit than AE. Six medications (lamotrigine, oxcarbazepine, clonidine, guanfacine, buspirone, and sertraline) had benefit ratings that were more than twice their adverse rating. Conversely, some medications had slightly negative net benefit ratings (worse AEs than benefits on average), including Adderall, Paroxetine, Quetiapine, Olanzapine, and Topiramate. However, there were wide variations in individual ratings of benefit and AEs, suggesting that clinical response to medications was highly variable, so these scores simply represent averages. A ranking of the top medications (those with the highest net perceived benefit) for each of 18 different symptoms is provided, which may provide some clinical guidance as to which medications may be most worth considering for a given symptom. A comparison of the survey results with the results of clinical trials shows generally good agreement in terms of medication benefits with some differences ; in some cases the differences are because the clinical trials did not assess all of the symptoms assessed by this survey. CONCLUSIONS : It is hoped that physicians and their patients will find the survey results useful in selecting the most promising medications for a given symptom, and also for monitoring for likely benefits and AEs, especially for medications for which few or no studies have been carried out in ASD populations.

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4. Doshi P, Tilford JM, Ounpraseuth S, Kuo DZ, Payakachat N. Correction to : Do Insurance Mandates Affect Racial Disparities in Outcomes for Children with Autism ?. Maternal and child health journal. 2019.

The original version of this article unfortunately contained a mistake in the analysis of the Tables 4 and 5.

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5. Ebishima K, Takahashi H, Stickley A, Nakahachi T, Sumiyoshi T, Kamio Y. Relationship of the Acoustic Startle Response and Its Modulation to Adaptive and Maladaptive Behaviors in Typically Developing Children and Those With Autism Spectrum Disorders : A Pilot Study. Front Hum Neurosci. 2019 ; 13 : 5.

Background : Autism spectrum disorder (ASD) is associated with persistent impairments in adaptive functioning across multiple domains of daily life. Thus, investigation of the biological background of both adaptive and maladaptive behaviors may shed light on developing effective interventions for improving social adaptation in ASD. In this study, we examined the relationship between adaptive/maladaptive behaviors and the acoustic startle response (ASR) and its modulation, which are promising neurophysiological markers for ASD translational research. Method : We investigated the ASR and its modulation in 11 children with ASD and 18 with typical development (TD), analyzing the relationship between startle measures and adaptive/maladaptive behaviors assessed with the Vineland Adaptive Behavior Scales (VABS) Second Edition. Results : Peak-ASR latency was negatively correlated with the VABS total score and socialization domain score of adaptive behaviors, while the ASR magnitude for relatively weak stimuli of 75-85 dB was positively correlated with VABS maladaptive behavior scores. Prepulse inhibition (PPI) at the prepulse intensity of 70-75 dB was also correlated with VABS maladaptive behavior. However, these relationships did not remain significant after adjustment for multiple comparisons. Conclusions : Our results indicate that the prolonged peak-ASR latency of ASD children might be associated with impairment in the developmental level of adaptive behavior, and that the greater ASR magnitude to relatively weak acoustic stimuli and smaller PPI of ASD children might increase the risk of maladaptive behavior. Future studies that have larger sample sizes will be important for further elucidating the neurophysiological factors that underpin adaptive as well as maladaptive behaviors in ASD.

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6. Hampton LH, Harty M, Fuller EA, Kaiser AP. Enhanced milieu teaching for children with autism spectrum disorder in South Africa. International journal of speech-language pathology. 2019 : 1-11.

PURPOSE : Efficient and effective interventions are required to meet the communication needs of children with autism spectrum disorders (ASDs). However, most children with ASD living in South Africa do not receive individualised interventions. METHOD : This multiple baseline study examined the effects of therapist-implemented enhanced milieu teaching (EMT) on the diversity and frequency of spoken language of three children with ASD in South Africa. RESULT : A moderate functional relation was demonstrated between the introduction of EMT and increases in (1) the number of different words and (2) the number of spontaneous utterances used by each participant. Some evidence of generalisation to novel partners and contexts was observed. CONCLUSION : Results indicated that EMT may be effective for improving communication in South African children with ASD. Implications for clinical practice and cultural and linguistic adaptations are discussed.

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7. Nicotera AG, Hagerman RJ, Catania MV, Buono S, Di Nuovo S, Liprino EM, Stracuzzi E, Giusto S, Di Vita G, Musumeci SA. EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder : A Pilot Cohort Study. J Autism Dev Disord. 2019.

To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate : the phenotypic characteristics ; the prevalence of EEG abnormalities ; the potential correlations between EEG abnormalities and behavioral and cognitive variables. Sixty-nine patients with ASD underwent cognitive or developmental testing, language assessment, and adaptive behavior skills evaluation as well as sleep/wake EEG recording. EEG abnormalities were found in 39.13% of patients. EEG abnormalities correlated with autism severity, hyperactivity, anger outbursts, aggression, negative or destructive behavior, motor stereotypies, intellectual disability, language impairment and self-harm. Our findings confirmed that EEG abnormalities are present in the ASD population and correlate with several associated phenotypic features.

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8. Okada Y, Miyawaki D, Kusaka H, Asada N, Iwakura Y, Yanagihara E, Asada N, Kanemoto E, Terakawa H, Inoue K. Subclinical Manic Symptoms in Children with Autism Spectrum Disorder. Osaka city medical journal. 2016 ; 62(2) : 103-10.

Background : Children with autism spectrum disorder (ASD) have varied comorbidities. With regard to comorbidity, there has been increasing interest in bipolar disorder (BP) in children. However, the prevalence of BP with ASD has varied because of the methodological differences used. Therefore the adequate criteria for determining BP in children are still debated. The purpose of this study is to identify reliable prevalence of BP and to evaluate a variety of subclinical BP symptoms in children with ASD. Methods : This is a cross-sectional and case-control study. The participants were 110 referred children aged 6-15 years : 46 with ASD (the case group), 64 without ASD (the control group). We used the strict operational criteria for diagnosing BP, and assessed the presence of subclinical BP symptoms using a semi-structured diagnostic interview. Results : None of the children were diagnosed with BP in the case group, although two children were diagnosed with BP in the control group. Based on the subclinical BP symptoms, the prevalence of elation/expansive mood and racing thoughts was significantly higher in the case group than in the control group : 26.1% versus 3.1% (p<.001) and 32.6% versus 9.4% (p=0.002), respectively. Conclusions : Our finding indicates that school-aged ASD children frequently present subclinical BP symptoms. It is important to be aware of over-diagnosis of BP, even though the children present subclinical BP symptoms, and to provide -the children with effective treatments.

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9. Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. Psychiatric genetics. 2019.

About one child in 68 is affected by the autism spectrum disorder (ASD), one of the most common neurodevelopmental disorders linked to intellectual disability, especially in males, intellectual disability being diagnosable in about 60-70% of autistic individuals. The biological bases of ASD are not yet fully known, but they are generally considered multifactorial, although many genes and genomic loci have been proposed to be possibly associated with this condition. In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel approximately 270 kb interstitial microduplication, localized at the distal portion of the 4q13.1 region. The rearrangement was inherited from a mild symptomatic father and included a large part of the single EPHA5 gene, a receptor tyrosine kinase involved in the neural development, already indicated to be linked to ASD by previous Genome Wide Association Studies. This imbalance represents, to the best of our knowledge, the smallest duplication identified to date that only impacts the EPHA5 gene. We hypothesize that the duplication of this gene may alter EPHA5 expression and that this may impact the autistic phenotype of the patient.

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10. Reece AS, Hulse GK. Gastroschisis and Autism-Dual Canaries in the Californian Coalmine. JAMA surgery. 2019.

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11. Sheldrick RC, Frenette E, Vera JD, Mackie TI, Martinez-Pedraza F, Hoch N, Eisenhower A, Fettig A, Carter AS. What Drives Detection and Diagnosis of Autism Spectrum Disorder ? Looking Under the Hood of a Multi-stage Screening Process in Early Intervention. J Autism Dev Disord. 2019.

U.S. guidelines for detecting autism emphasize screening and also incorporate clinical judgment. However, most research focuses on the former. Among 1,654 children participating in a multi-stage screening protocol for autism, we used mixed methods to evaluate : (1) the effectiveness of a clinical decision rule that encouraged further assessment based not only on positive screening results, but also on parent or provider concern, and (2) the influence of shared decision-making on screening administration. Referrals based on concern alone were cost-effective in the current study, and reported concerns were stronger predictors than positive screens of time-to-complete referrals. Qualitative analyses suggest a dynamic relationship between parents’ concerns, providers’ concerns, and screening results that is central to facilitating shared decision-making and influencing diagnostic assessment.

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12. Slaughter AM, Hein S, Hong JH, Mire SS, Grigorenko EL. Criminal Behavior and School Discipline in Juvenile Justice-Involved Youth with Autism. J Autism Dev Disord. 2019.

The objective was to delineate the prevalence of criminal behavior and school discipline in juvenile justice-involved youth (JJY) with autism. A sample of 143 JJY with autism was matched to comparison groups of JJY without a special education classification, JJY with learning disabilities, and JJY with other special educational needs (N = 572). Results showed that JJY with autism committed significantly fewer property crimes. With regard to school discipline, JJY with autism were least likely to receive policy violations, out-of-school suspensions, and in-school suspensions. Finally, regardless of special education classification, JJY who had a history of fighting in school were more likely to recidivate. Our results suggest that JJY with autism are not more likely to commit crimes compared to JJY without SEN.

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13. Taylor JL, Smith DaWalt L, Marvin AR, Law JK, Lipkin P. Sex differences in employment and supports for adults with autism spectrum disorder. Autism. 2019 : 1362361319827417.

This study explored sex differences in employment, reasons for unemployment, benefits, and supports among a large, international sample of adults with autism spectrum disorder. The sample included 443 adults with autism spectrum disorder (60% female ; 74% residing in the United States) who consented to be part of an autism research registry and completed an Internet survey. Outcome variables included current employment status, number of hours working, number of jobs in the past 5 years, reasons for unemployment, as well as the number of benefits received and the amount of financial support currently being received from families of origin. Using multiple regression models, we found that males and females were working at similar rates. Females were more likely than males to say that their unemployment was a result of choosing to withdraw from the labor market. Similar percentages of males and females reported receiving some form of benefits or family support, but of those receiving benefits/family support, males received more than females. These results are consistent with other studies finding subtle, but potentially important sex differences in life-course outcomes of individuals with autism spectrum disorder.

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14. Yamashiro A, Vouloumanos A. Are linguistic and social-pragmatic abilities separable in neurotypical infants and infants later diagnosed with ASD ?. Developmental psychology. 2019.

Adult humans process communicative interactions by recognizing that information is being communicated through speech (linguistic ability) and simultaneously evaluating how to respond appropriately (social-pragmatic ability). These abilities may originate in infancy. Infants understand how speech communicates in social interactions, helping them learn language and how to interact with others. Infants later diagnosed with autism spectrum disorder (ASD), who show deficits in social-pragmatic abilities, differ in how they attend to the linguistic and social-pragmatic information in their environment. Despite their interdependence, experimental measures of language and social-pragmatic attention are often studied in isolation in infancy. Thus, the extent to which language and social-pragmatic abilities are related constructs remains unknown. Understanding how related or separable language and social-pragmatic abilities are in infancy may reveal whether these abilities are supported by distinguishable developmental mechanisms. This study uses a single communicative scene to examine whether real-time linguistic and social-pragmatic attention are separable in neurotypical infants and infants later diagnosed with ASD, and whether attending to linguistic and social-pragmatic information separately predicts later language and social-pragmatic abilities 1 year later. For neurotypical 12-month-olds and 12-month-olds later diagnosed with ASD, linguistic attention was not correlated with concurrent social-pragmatic attention. Furthermore, infants’ real-time attention to the linguistic and social-pragmatic aspects of the scene at 12 months predicted and distinguished language and social-pragmatic abilities at 24 months. Language and social-pragmatic attention during communication are thus separable in infancy and may follow distinguishable developmental trajectories. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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