Pubmed du 28/11/19

jeudi 28 novembre 2019

1. Bystrom K, Grahn P, Hagerhall C. Vitality from Experiences in Nature and Contact with Animals-A Way to Develop Joint Attention and Social Engagement in Children with Autism ?. Int J Environ Res Public Health ;2019 (Nov 23) ;16(23)

Animals are increasingly included in treatment for children with autism, and research has shown positive effects, such as increased social initiatives, decreased typical autistic behaviors, and decreased stress. However, there are still knowledge gaps, for example, on underlying mechanisms and effects from longer treatment duration. The purpose of this study is to contribute to these gaps and ask questions about the ways in which animals and nature can improve conditions for psychological development through support from therapists. The method is based on grounded theory. Data comes from a treatment model (duration 1(1/2) years, a total of nine children), from environmental psychology and developmental psychology, both typical and atypical as in autism. The results consist of three key categories ; reduce stress and instill calm, arouse curiosity and interest, and attract attention spontaneously. These three key categories are related to an underlying core variable, vitality forms, which was described by Daniel Stern and, according to him, is important in forming overall experiences. The starting point is the brain’s way of encoding many internal and external events based on movement perception. Here it is argued that the vitality forms from nature and animals are particularly favorable for effecting development-promoting interactions with a therapist.

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2. Cappi C, Oliphant ME, Peter Z, Zai G, Conceicao do Rosario M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biol Psychiatry ;2019 (Oct 16)

BACKGROUND : Obsessive-compulsive disorder (OCD) is a debilitating neuropsychiatric disorder with a genetic risk component, yet identification of high-confidence risk genes has been challenging. In recent years, risk gene discovery in other complex psychiatric disorders has been achieved by studying rare de novo (DN) coding variants. METHODS : We performed whole-exome sequencing in 222 OCD parent-child trios (184 trios after quality control), comparing DN variant frequencies with 777 previously sequenced unaffected trios. We estimated the contribution of DN mutations to OCD risk and the number of genes involved. Finally, we looked for gene enrichment in other datasets and canonical pathways. RESULTS : DN likely gene disrupting and predicted damaging missense variants are enriched in OCD probands (rate ratio, 1.52 ; p = .0005) and contribute to risk. We identified 2 high-confidence risk genes, each containing 2 DN damaging variants in unrelated probands : CHD8 and SCUBE1. We estimate that 34% of DN damaging variants in OCD contribute to risk and that DN damaging variants in approximately 335 genes contribute to risk in 22% of OCD cases. Furthermore, genes harboring DN damaging variants in OCD are enriched for those reported in neurodevelopmental disorders, particularly Tourette’s disorder and autism spectrum disorder. An exploratory network analysis reveals significant functional connectivity and enrichment in canonical pathways, biological processes, and disease networks. CONCLUSIONS : Our findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants. Sequencing larger cohorts of OCD parent-child trios will reveal more OCD risk genes and will provide needed insights into underlying disease biology.

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3. Grasselli C, Carbone A, Panelli P, Giambra V, Bossi M, Mazzoccoli G, De Filippis L. Neural Stem Cells from Shank3-ko Mouse Model Autism Spectrum Disorders. Mol Neurobiol ;2019 (Nov 26)

Autism spectrum disorders (ASD) comprise a complex of neurodevelopmental disorders caused by a variety of genetic defects and characterized by alterations in social communication and repetitive behavior. Since the mechanisms leading to early neuronal degeneration remain elusive, we chose to examine the properties of NSCs isolated from an animal model of ASD in order to evaluate whether their neurogenic potential may recapitulate the early phases of neurogenesis in the brain of ASD patients. Mutations of the gene coding for the Shank3 protein play a key role in the impairment of brain development and synaptogenesis in ASD patients. Experiments here reported show that NSCs derived from the subventricular zone (SVZ) of adult Shank3Delta11-/- (Shank3-ko) mice retain self-renewal capacity in vitro, but differentiate earlier than wild-type (wt) cells, displaying an evident endosomal/lysosomal and ubiquitin aggregation in astroglial cells together with mitochondrial impairment and inflammasome activation, suggesting that glial degeneration likely contributes to neuronal damage in ASD. These in vitro observations obtained in our disease model are consistent with data in vivo obtained in ASD patients and suggest that Shank3 deficit could affect the late phases of neurogenesis and/or the survival of mature cells rather than NSC self-renewal. This evidence supports Shank3-ko NSCs as a reliable in vitro disease model and suggests the rescue of glial cells as a therapeutic strategy to prevent neuronal degeneration in ASD.

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4. Shiino T, Miura K, Fujimoto M, Kudo N, Yamamori H, Yasuda Y, Ikeda M, Hashimoto R. Comparison of eye movements in schizophrenia and autism spectrum disorder. Neuropsychopharmacol Rep ;2019 (Nov 27)

AIM : Eye movement abnormalities are often associated with psychiatric illness. Subjects with either schizophrenia or autism spectrum disorder (ASD) have been reported to show eye movement abnormalities. However, it is still unclear whether eye movement abnormalities in schizophrenia and in ASD have common features. This study aimed to understand the similarities/differences in eye movement abnormalities of subjects with schizophrenia and those with ASD. METHODS : We analyzed 75 eye movement characteristics of 83 subjects with schizophrenia, 17 subjects with ASD and 255 healthy controls that were collected during fixation, smooth pursuit and free viewing tasks using analysis of covariance with the covariates age and sex. RESULTS : We found significant effects across groups on 21 eye movement characteristics, of which 4 characteristics had large effect sizes. Post hoc multiple comparisons indicated significant differences between the subjects with schizophrenia and healthy controls across all 21 characteristics. On the other hand, no significant difference between the ASD group and healthy control group was found. Instead, the subjects with ASD showed significant differences from the subjects with schizophrenia in 5 eye movement characteristics during the free viewing and smooth pursuit eye movements. CONCLUSIONS : The present results suggest that eye movement abnormalities in the subjects with ASD are different from those with schizophrenia and that the tasks in this study are suitable to detect eye movement abnormality in schizophrenia. Thus, the eye movement examinations used here may distinguish subjects with schizophrenia from those with ASD.

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5. Kushki A, Anagnostou E, Hammill C, Duez P, Brian J, Iaboni A, Schachar R, Crosbie J, Arnold P, Lerch JP. Examining overlap and homogeneity in ASD, ADHD, and OCD : a data-driven, diagnosis-agnostic approach. Transl Psychiatry ;2019 (Nov 26) ;9(1):318.

The validity of diagnostic labels of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD) is an open question given the mounting evidence that these categories may not correspond to conditions with distinct etiologies, biologies, or phenotypes. The objective of this study was to determine the agreement between existing diagnostic labels and groups discovered based on a data-driven, diagnosis-agnostic approach integrating cortical neuroanatomy and core-domain phenotype features. A machine learning pipeline, called bagged-multiview clustering, was designed to discover homogeneous subgroups by integrating cortical thickness data and measures of core-domain phenotypic features of ASD, ADHD, and OCD. This study was conducted using data from the Province of Ontario Neurodevelopmental Disorders (POND) Network, a multi-center study in Ontario, Canada. Participants (n = 226) included children between the ages of 6 and 18 with a diagnosis of ASD (n = 112, median [IQR] age = 11.7[4.8], 21% female), ADHD (n = 58, median [IQR] age = 10.2[3.3], 14% female), or OCD (n = 34, median [IQR] age = 12.1[4.2], 38% female), as well as typically developing controls (n = 22, median [IQR] age = 11.0[3.8], 55% female). The diagnosis-agnostic groups were significantly different than each other in phenotypic characteristics (SCQ : chi(2)(9) = 111.21, p < 0.0001 ; SWAN : chi(2)(9) = 142.44, p < 0.0001) as well as cortical thickness in 75 regions of the brain. The analyses revealed disagreement between existing diagnostic labels and the diagnosis-agnostic homogeneous groups (normalized mutual information < 0.20). Our results did not support the validity of existing diagnostic labels of ASD, ADHD, and OCD as distinct entities with respect to phenotype and cortical morphology.

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6. White R, Barreto M, Harrington J, Kapp SK, Hayes J, Russell G. Is disclosing an autism spectrum disorder in school associated with reduced stigmatization ?. Autism ;2019 (Nov 27):1362361319887625.

Evidence suggests disclosing an autism diagnosis is associated with reduced stigmatization for autistic adults. However, it is unknown whether this is true for autistic adolescents. We used a vignette-and-questionnaire design to study stigmatizing attitudes with adolescents (aged 11-12 and 14-16 years, total N = 250) in a UK school. We investigated the effect of disclosing that a fictional adolescent had an autism diagnosis on stigmatizing attitudes of peers by testing the effect of disclosure of diagnosis on the social and emotional distance pupils wanted to maintain from the autistic adolescent. We also tested the effect of disclosure on peers’ assessment of the adolescent’s responsibility for their own behaviour. We checked to see if the effects were moderated by gender and age-group. Disclosing autism did not affect the social and emotional distance peers wanted to maintain from the autistic adolescent, but was associated with significant reduction in personal responsibility attributed to the adolescent’s behaviour. Boys attributed more personal responsibility to the autistic adolescent than girls, but this gender effect was reduced when autism was disclosed. These findings suggest that disclosing autism to other pupils may be of limited use in reducing stigmatization by peers in UK schools.

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7. Hand BN, Angell AM, Harris L, Carpenter LA. Prevalence of physical and mental health conditions in Medicare-enrolled, autistic older adults. Autism ;2019 (Nov 27):1362361319890793.

While there is emerging evidence on the prevalence of physical and mental health conditions among autistic adults, less is known about this population’s needs during older adulthood (aged 65+). We conducted a cross-sectional retrospective cohort study of 2016-2017 Medicare data to compare the prevalence of physical and mental health conditions in a national sample of autistic older adults (N = 4685) to a matched population comparison (N = 46,850) cohort. Autistic older adults had significantly greater odds of nearly all physical health conditions including epilepsy (odds ratio = 18.9 ; 95% confidence interval = 17.2-20.7), Parkinson’s disease (odds ratio = 6.1 ; 95% confidence interval = 5.3-7.0), and gastrointestinal conditions (odds ratio = 5.2 ; 95% confidence interval = 4.9-5.5). Most mental health conditions were more common among autistic older adults, including schizophrenia and psychotic disorders (odds ratio = 25.3 ; 95% confidence interval = 22.4-28.7), attention deficit disorders (odds ratio = 24.4 ; 95% confidence interval = 16.2-31.0), personality disorders (odds ratio = 24.1 ; 95% confidence interval = 17.8-32.5), and suicidality or self-inflicted injury (odds ratio = 11.1 ; 95% confidence interval = 8.9-13.8). Health conditions commonly associated with advanced age in the general population (e.g. osteoporosis, cognitive disorders, heart disease, cancer, cerebrovascular disease, osteoarthritis) were also significantly more common among autistic older adults. By highlighting the significant physical and mental health needs for which autistic older adults require care, our findings can inform healthcare systems, healthcare providers, and public health initiatives seeking to promote well-being in this growing population.

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