Pubmed du 03/08/19

samedi 3 août 2019

1. Abu-Libdeh B, Ashhab M, Shahrour M, Daana M, Dudin A, Elpeleg O, Edvardson S, Harel T. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. Neurogenetics ;2019 (Aug 2)

Regulation of neuronal connectivity and synaptic communication are key to proper functioning of the brain. The Netrin-G subfamily and their cognate receptors are vertebrate-specific synaptic cell adhesion molecules with a role in synapse establishment and function, which seem to have co-evolved to contribute to higher brain functions. We identified a homozygous frameshift variant in NTNG2 (NM_032536.3 : c.376dup), encoding Netrin-G2, in eight individuals from four families with global developmental delay, hypotonia, secondary microcephaly, and autistic features. Comparison of haplotypes established this as a founder variant. Previous studies showed that Ntng2-knockout mice have impaired visual, auditory, and motor coordination abilities required for demanding tasks, as well as possible spatial learning and memory deficits. Knockout of Ntng2 in a cellular model resulted in short neurites, and knockout of its trans-synaptic partner Ngl2/Lrrc4 in mice revealed autistic-like behavior and reduced NMDAR synaptic plasticity. The Ngl2/Lrrc4-knockout mouse phenotype was rescued by NMDAR activation, suggesting a mechanistic link to autism spectrum disorder. We thus propose NTNG2 as a candidate disease gene and provide further support for the involvement of Netrin-G2 in neuropsychiatric phenotypes.

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2. Alhowikan AM, Al-Ayadhi LY, Halepoto DM. Impact of environmental pollution, dietary factors and diabetes mellitus on Autism Spectrum Disorder (ASD). Pak J Med Sci ;2019 (Jul-Aug) ;35(4):1179-1184.

Autism spectrum disorder (ASD) is complex neurodevelopmental condition described by impairments in three main behavioral areas : social deficits, impaired communication, and repetitive behaviors. Despite many years of vast study, the causes of ASD are still unknown. Various risk factors including genetic, infectious, metabolic and immunological have been investigated however, environmental, nutritional and diabetes related risk factors have not received sufficient attention. This study has provided an insight into the comprehensive interaction between environmental pollution, dietary factors and diabetes mellitus that could lead to the advancement of this debilitating neurodevelopment disorder. The literature search was done using PubMed and Google Scholar databases up to October 2018. Key words "Environmental Pollution", "Nutritional Factors", "Diabetes Mellitus", "Autism Spectrum Disorder" were selected.

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3. Bitsika V, Sharpley CF. Effects of Diagnostic Severity upon Sex Differences in Behavioural Profiles of Young Males and Females with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Aug 3)

To determine if diagnostic severity of Autistic Spectrum Disorder (ASD) affected sex differences in the detailed ASD-related behavioural profiles of young males and female, two samples of males and females with a diagnosis of ASD, aged between 6 and 17 years, were compared across the 65 items of the Social Responsiveness Scale (2nd ed.). Results are reported for a sample of males and females matched on age and IQ (n = 51 pairs) and a smaller sample matched on age, IQ and ADOS-2 severity (n = 32 pairs). ASD-related behaviours from the SRS-2 that were significantly and meaningfully different across sexes were identified for both samples. ADOS-2 diagnostic severity was associated with different sets of sex-based differences in SRS-2 item scores.

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4. Cheng Y, Jin P. Dysfunction of Habituation Learning : A Novel Pathogenic Paradigm of Intellectual Disability and Autism Spectrum Disorder. Biol Psychiatry ;2019 (Aug 15) ;86(4):253-254.

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5. Chung YC, Douglas KH, Walker VL, Wells RL. Interactions of High School Students With Intellectual and Developmental Disabilities in Inclusive Classrooms. Intellect Dev Disabil ;2019 (Aug) ;57(4):307-322.

As inclusive opportunities increase for students with disabilities, additional research is needed to examine high school students’ classroom interactions. This descriptive study explores the nature of the social interactions of 10 high school students with intellectual and developmental disabilities (IDD) in the general education classroom. Findings from our observations indicated that students with IDD interacted with peers during approximately one out of every four minutes and interacted with the general educator during one out of every 10 minutes, less than their peer comparisons’ interactions with peers and teachers. Students with IDD were present (M = 89.9%) and in proximity to peers (M = 71.7%) during the majority of the class period. We discuss additional results along with practical implications, limitations, and future research directions.

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6. Di Rezze B, Duku E, Szatmari P, Volden J, Georgiades S, Zwaigenbaum L, Smith IM, Vaillancourt T, Bennett TA, Elsabbagh M, Thompson A, Ungar WJ, Waddell C. Examining Trajectories of Daily Living Skills over the Preschool Years for Children with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Aug 1)

Preschool children with autism spectrum disorder (ASD) experience slower development of daily living skills (DLS) that are essential for independent functioning compared to typically developing children. Few studies have examined the trajectories of DLS in preschoolers with ASD and the existing literature has reported conflicting results. This study examined DLS trajectories and potential covariates for preschoolers with ASD from a multi-site longitudinal study following children from diagnosis to the end of grade 1. Multi-level modeling was conducted with DLS domain scores from the Vineland Adaptive Behavior Scales-2. The results demonstrated a positive trajectory of increasing scores over time, associations of age of diagnosis, developmental level, stereotypy, and language skills with the mean score at T4 or age 6 years, whereas rate of change was only associated with ASD symptom severity, such that an improvement in DLS trajectory was associated with lower and improving ASD symptom severity.

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7. Dominguez-Iturza N, Lo AC, Shah D, Armendariz M, Vannelli A, Mercaldo V, Trusel M, Li KW, Gastaldo D, Santos AR, Callaerts-Vegh Z, D’Hooge R, Mameli M, Van der Linden A, Smit AB, Achsel T, Bagni C. The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour. Nat Commun ;2019 (Aug 1) ;10(1):3454.

Copy-number variants of the CYFIP1 gene in humans have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), two neuropsychiatric disorders characterized by defects in brain connectivity. Here, we show that CYFIP1 plays an important role in brain functional connectivity and callosal functions. We find that Cyfip1-heterozygous mice have reduced functional connectivity and defects in white matter architecture, similar to phenotypes found in patients with ASD, SCZ and other neuropsychiatric disorders. Cyfip1-deficient mice also present decreased myelination in the callosal axons, altered presynaptic function, and impaired bilateral connectivity. Finally, Cyfip1 deficiency leads to abnormalities in motor coordination, sensorimotor gating and sensory perception, which are also known neuropsychiatric disorder-related symptoms. These results show that Cyfip1 haploinsufficiency compromises brain connectivity and function, which might explain its genetic association to neuropsychiatric disorders.

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8. Friedman C. The Relationship Between Disability Prejudice and Institutionalization of People With Intellectual and Developmental Disabilities. Intellect Dev Disabil ;2019 (Aug) ;57(4):263-273.

There are decades of research indicating ableism is extremely prominent. The aim of this study was to examine the relationships between disability prejudice and institutionalization of people with intellectual and developmental disabilities (IDD). This study had two research questions : (1) How does disability prejudice impact the number of people with IDD who are institutionalized in a state ? and (2) How does disability prejudice impact spending on institutions ? To do so, we utilized secondary data about state utilization of institutions (fiscal year 2015), and disability prejudice data from 325,000 people. Findings revealed, states with higher disability prejudice institutionalize more people, even when controlling for size. Moreover, states with higher disability prejudice also spend more on institutional funding, regardless of size or wealth.

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9. Graciarena M. Cytokines and Chemokines in Novel Roles : Exploring Their Potential as Predictors of Autism Spectrum Disorder. Biol Psychiatry ;2019 (Aug 15) ;86(4):e11-e12.

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10. Hayat AA, Meny AH, Salahuddin N, F MA, Ahuja KR, Azeem MW. Assessment of knowledge about childhood autism spectrum disorder among healthcare workers in Makkah- Saudi Arabia. Pak J Med Sci ;2019 (Jul-Aug) ;35(4):951-957.

Objective : To measure the knowledge of healthcare professionals about increasingly prevalent Autism Spectrum Disorder (ASD) along with perceptions around its management and prognosis and comparison across various specialties. Methods : This Cross sectional survey based comparative analysis took place at Maternity and Children Hospital and King Faisal Hospital Makkah from December 2017 to May 2018. The validated self-administered "Knowledge about childhood autism among health workers" questionnaire was used along with additional questions regarding perceptions about ASD. The mean and mean percent scores were calculated. Chi squared test and ANOVA were applied to find the association between quantitative and qualitative variables respectively. Results : Out of 162 participants, 153 returned the questionnaire and 147 were included in final analysis. Physicians constituted 81.6% (120) of participants. The mean score for participants was 9.80(S.E.M +/-0.32) where non-physicians yielded higher mean score (11.2+/-4.41) as compared to physicians (9.6+/-3.28) (p=0.113). Psychiatrists had highest score of 16/19 while general physicians had lowest (6/19). Participants with more years of experience had higher mean scores (p-value = 0.01). About 72.10% (106) of participants opted for medication as a treatment option. Nearly 38.1% (56) of participants were skeptical about improvement of ASD with early interventions. Conclusion : There is a lack of knowledge about ASD amongst healthcare professionals in Saudi Arabia. Experienced professionals working with ASD children can be utilized to deliver targeted trainings nationwide.

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11. Heussler H, Cohen J, Silove N, Tich N, Bonn-Miller MO, Du W, O’Neill C, Sebree T. A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome. J Neurodev Disord ;2019 (Aug 2) ;11(1):16.

BACKGROUND : Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder. Cannabidiol (CBD) holds promise as a potential treatment for FXS symptoms due to its safety profile and positive effects on a number of emotional and behavioral symptoms associated with FXS. The aim of the current study was to evaluate the safety, tolerability, and initial efficacy of ZYN002, a transdermal CBD gel, in a pediatric population with FXS. METHODS : Twenty children and adolescents (aged 6-17 years) with a diagnosis of FXS (confirmed through molecular documentation of FMR1 full mutation) were enrolled in an open-label, multi-site, trial of ZYN002. Transdermal CBD gel was administered twice daily for 12 weeks, titrated from 50 mg to a maximum daily dose of 250 mg. The primary efficacy endpoint was change from screening to week 12 on the Anxiety, Depression, and Mood Scale (ADAMS). Secondary endpoint measures included the Aberrant Behavior Checklist-Community for FXS (ABC-CFXS), Pediatric Anxiety Rating Scale (PARS-R), Pediatric Quality of Life Inventory (PedsQL), three Visual Analogue Scales (VAS), and the Clinical Global Impression Scale-Severity (CGI-S) and Improvement (CGI-I). RESULTS : The majority of treatment-emergent AEs (reported by 85% of participants) were mild in severity (70%), and no serious adverse events were reported. There was a statistically significant reduction in ADAMS total score from screening to week 12 and significant reductions on nearly all other secondary endpoints, including all ADAMS subscales (except depressed mood), all ABC-CFXS subscale scores (e.g., social avoidance, irritability), PARS-R total severity score, and PedsQL total score. CONCLUSIONS : ZYN002 was well tolerated and produced clinically meaningful reductions in anxiety and behavioral symptoms in children and adolescents with FXS. These findings support further study of ZYN002 in a randomized, well-controlled trial for the treatment of behavioral symptoms of FXS. TRIAL REGISTRATION : ANZCTR, ACTRN12617000150347 Registered 27 January 2017.

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12. Hu VW, Devlin CA, Debski JJ. ASD Phenotype-Genotype Associations in Concordant and Discordant Monozygotic and Dizygotic Twins Stratified by Severity of Autistic Traits. Int J Mol Sci ;2019 (Aug 3) ;20(15)

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by impaired social communication coupled with stereotyped behaviors and restricted interests. Despite the high concordance rate for diagnosis, there is little information on the magnitude of genetic contributions to specific ASD behaviors. Using behavioral/trait severity scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument, we compared the phenotypic profiles of mono- and dizygotic twins where both co-twins were diagnosed with ASD or only one twin had a diagnosis. The trait distribution profiles across the respective twin populations were first used for quantitative trait association analyses using publicly available genome-wide genotyping data. Trait-associated single nucleotide polymorphisms (SNPs) were then used for case-control association analyses, in which cases were defined as individuals in the lowest (Q1) and highest (Q4) quartiles of the severity distribution curves for each trait. While all of the ASD-diagnosed twins exhibited similar trait severity profiles, the non-autistic dizygotic twins exhibited significantly lower ADI-R item scores than the non-autistic monozygotic twins. Case-control association analyses of twins stratified by trait severity revealed statistically significant SNPs with odds ratios that clearly distinguished individuals in Q4 from those in Q1. While the level of shared genomic variation is a strong determinant of the severity of autistic traits in the discordant non-autistic twins, the similarity of trait profiles in the concordantly autistic dizygotic twins also suggests a role for environmental influences. Stratification of cases by trait severity resulted in the identification of statistically significant SNPs located near genes over-represented within autism gene datasets.

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13. Nevill RE, Hedley D, Uljarevic M. Brief Report : Replication and Validation of the Brief Autism Detection in Early Childhood (BADEC) in a Clinical Sample. J Autism Dev Disord ;2019 (Aug 1)

We investigated the clinical validity of the BADEC, an abbreviated, five-item version of the Autism Detection in Early Childhood, level-2 screening tool for autism. Initially developed by Nah et al. (2019) using a research sample, the present study replicated Nah et al. (2019) procedures in a clinical population. Using a cutoff score of five, five items were identified as most effective in discriminating children who later received an ASD diagnosis by an interdisciplinary team. This algorithm had improved validity compared to the original research algorithm. Results supported the efficacy of a very brief, easy to administer ASD screening tool in identifying children under three who are likely to have ASD.

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14. Nnamani A, Akabogu J, Otu MS, Uloh-Bethels AC, Ukoha E, Iyekekpolor OM, Omile JC, Obiezu MN, Dike AE, Ike CV, Otu FM, Eseadi C. Using rational-emotive language education to improve communication and social skills of adolescents with autism spectrum disorders in Nigeria. Medicine (Baltimore) ;2019 (Aug) ;98(31):e16550.

BACKGROUND/OBJECTIVE : Studies show the need for improved communication and social skills of adolescents with autism spectrum disorders (ASDs). Therefore, the present study aimed to analyze the effect of using rational-emotive language education (RELE) to pursue this need for adolescents in Nigeria. METHODS : The design of the study was a group randomized trial, with pretest, post-test, and follow-up. Sixty-eight adolescents with ASDs participated in the study. Autism Communication and Social Skills Scale for Adolescent (ACSSSA) was used for data collection. The method of data analysis in the study was repeated measures ANOVA procedure, with Partial eta squared ((Equation is included in full-text article.)), adjusted R, mean, standard deviation, and upper/lower limit. RESULTS : The RELE program significantly improved communication and social skills of adolescents with ASDs exposed to the treatment intervention when compared with waitlist control group. CONCLUSION : Exposure to RELE significantly improved communication and social skills of adolescents with ASDs in this study. Therefore, we recommend that language educators, speech pathologists, language therapists, special educators and counsellors, and other professionals involved in the treatment and caring for ASDs patients be trained on the application of the RELE technique so as to enable them to employ the program in their professional practices.

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15. Tsugiyama LE, Ida-Eto M, Ohkawara T, Noro Y, Narita M. Altered neuronal activity in the auditory brainstem following sound stimulation in thalidomide-induced autism model rats. Congenit Anom (Kyoto) ;2019 (Aug 1)

Auditory hypersensitivity in autism is frequently observed in clinics. Dysfunction in the auditory brainstem has been suspected. We have established autism model rats using prenatal thalidomide exposure. Here we investigated whether abnormal response occurs in the brainstem following sound stimulus in autism model rats. Autism model rats were prepared by prenatal exposure to thalidomide on embryonic days 9 and 10 in pregnant rats. Then, the animals were exposed to 16-kHz pure tone auditory stimulus and c-Fos immunostaining was performed to examine the neuronal activity on postnatal day 49 to 51. Following sound stimulus, increased number of c-Fos-positive neurons was observed in the medial nucleus of the trapezoid body of autism model rats compared with the control rats. These results suggest that prenatal thalidomide might cause altered processing of auditory stimulus, leading to the characteristics of auditory hypersensitivity in autism.

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16. Wray NR, Yengo L. Assortative Mating in Autism Spectrum Disorder : Toward an Evidence Base From DNA Data, but Not There Yet. Biol Psychiatry ;2019 (Aug 15) ;86(4):250-252.

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17. Yamaki K, Wing C, Mitchell D, Owen R, Heller T. The Impact of Medicaid Managed Care on Health Service Utilization Among Adults With Intellectual and Developmental Disabilities. Intellect Dev Disabil ;2019 (Aug) ;57(4):289-306.

People with intellectual and developmental disabilities (IDD) are frequent users of health services. We examined how their service utilization of emergency department (ED), inpatient hospitalization, and primary care physicians changed as they transitioned from fee-for-service to Medicaid managed care (MMC). Our results showed that MMC reduced the utilization of all of these services. A substantial decrease in ED visits was associated with the reduction in visits due to mental/behavioral health conditions and conditions that could be nonemergent and manageable with the community-based health services. These findings suggest that health service utilization of people with IDD is related not only to their health needs, but also to the delivery model that provides their health services.

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18. Zhou HY, Yang HX, Gong JB, Cheung EFC, Gooding DC, Park S, Chan RCK. Revisiting the overlap between autistic and schizotypal traits in the non-clinical population using meta-analysis and network analysis. Schizophr Res ;2019 (Aug 3)

The present study aimed to explore the relationship between autistic and schizotypal traits in the non-clinical population. We first conducted a meta-analysis to quantify the correlation between self-reported autistic traits and the three dimensions of schizotypal traits (positive, negative and disorganization). The strongest correlation was found between autistic traits and negative schizotypal traits (r=0.536, 95% CI [0.481, 0.586]), followed by the disorganization (r=0.355, 95% CI [0.304, 0.404]) and positive (r=0.256, 95% CI [0.208, 0.302]) dimensions. To visualize the partial correlations between dimensional behavioural traits, we constructed a network model based on a large sample of college students (N=2469). Negative schizotypal traits were strongly correlated with autistic social/communicative deficits, whereas positive schizotypal traits were inversely correlated with autistic-like traits, lending support to the psychosis-autism diametrical model. Disentangling the overlapping and diametrical structure of autism and schizophrenia may help to elucidate the aetiology of these two neurodevelopmental disorders.

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