Pubmed du 24/11/19

dimanche 24 novembre 2019

1. Bolgar R, Brehant M, Chazot-Balcon M, Baboulene J, Haro G, Pinault M, Bouchard JP. Evaluation du trouble du spectre de l’autisme chez les jeunes. Revue de l’infirmiere. 2019 ; 68(255) : 37-9.

Autism is currently considered as a neurodevelopmental disorder called "autism spectrum disorder" (ASD). Its diagnosis is based on assessments focusing on two main areas : the presence of persistent impairments in communication and social interactions in varied contexts, as well as the presence of a stereotypical or repetitive nature of the subject’s movements, use of objects or language. The complementary functional diagnosis enables a personalised project to be constructed taking into account the resources and difficulties of the individual with ASD. It focuses on cognitive, communication, psychomotor skills, as well as the degree of autonomy and the psycho-emotional resources.

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2. Conson M, Senese VP, Baiano C, Zappullo I, Warrier V, Salzano S, Positano M, Baron-Cohen S. The effects of autistic traits and academic degree on visuospatial abilities. Cognitive processing. 2019.

In the present study, we were interested to investigate how autistic traits (including systemizing and empathy) and academic degree influence individuals’ visuospatial abilities. To this end, 352 university students completed the Autism Spectrum Quotient (AQ), the Empathy Quotient, the Systemizing Quotient (SQ) and visuospatial tests measuring figure disembedding and mental rotation of two-dimensional figures. Engineering-design students (architecture and engineering) were the most accurate in disembedding and mentally rotating figures, followed by students of physical sciences (computer science, chemistry, physics, etc.) and fact-based humanities (languages, classics, law) ; biological (psychology and neuroscience, etc.) and systems-based social scientists (economics and commerce) were the least accurate. Engineering-design students also showed higher SQ scores with respect to the other four academic degree subjects, with students of biological sciences showing lower SQ scores. Importantly, results from a path analysis revealed that SQ (but not AQ) exerted an indirect effect on figure disembedding and mental rotations through the influence of the academic degree. Thus, the present findings reveal shady differences in systemizing degree and visuospatial performance within systemizing-based degree subjects. Implications for education are discussed.

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3. Ding Y, Marco de la Cruz B, Xia Y, Liu M, Lu Y, McInerney V, Krawczyk J, Lynch SA, Howard L, O’Brien T, Gallagher L, Shen S. Derivation of familial iPSC lines from three ASD patients carrying NRXN1alpha(+/-) and two controls (NUIGi022-A, NUIGi022-B ; NUIGi023-A, NUIGi023-B ; NUIGi025-A, NUIGi025-B ; NUIGi024-A, NUIGi024-B ; NUIGi026-A, NUIGi026-B). Stem cell research. 2019 ; 41 : 101653.

NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. Human induced pluripotent stem cells (iPSCs) are essential for disease modeling and drug discovery, but familial cases are particularly rare. We report here the derivation of familial iPSC lines from two controls and three ASD patients carrying NRXN1alpha(+/-), using a non-integrating Sendai viral kit. The genotype and karyotype of the resulting iPSCs were validated by whole genome SNP array. All iPSC lines expressed comparable levels of pluripotency markers and could be differentiated into three germ layers.

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4. Elias R, White SW. Measuring Social Motivation in Autism Spectrum Disorder : Development of the Social Motivation Interview. J Autism Dev Disord. 2019.

Social motivation in individuals with ASD is inferred from the observation of overt behaviors and neurological correlates. Motivation, however, can be distinguishable from overt behavior and neurologic reactivity. Nevertheless, few studies have examined the cognitive processes that may influence goal-directed tasks involved in social interaction. This study addressed this conceptual need by developing a novel interview. The social motivation interview (SMI) assesses for internal cognitions as they relate to social motivation by evaluating social desire, interest, and behaviors in eighteen children with ASD (M years = 12.84). Pilot testing suggested feasibility of administration, user satisfaction, and promising psychometric properties. Future examination of the SMI in large-scale field testing is warranted.

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5. Fasulo A. A Different Conversation : Psychological Research and the Problem of Self in Autism. Integrative psychological & behavioral science. 2019.

Observations about peculiarities in the autistic population concerning type and frequency of references to subjective states, and lack of perspective taking, have been on the whole referred to as the paradox of the autistic self, i.e. a co-presence of ego-centeredness and weak self-referentiality (Lombardo & Baron Cohen 2010). Prevalent approaches in autism ascribe these peculiarities to high order disfunctions caused by neurological factors, such as defective self-encoding processes. Two narratives told by an adult man with Asperger during counselling are examined with Conversation Analysis ; the analysis identifies features that may lead to descriptions like the paradox of autistic self, but also reveals competences related to perspective-taking and narrative construction. Drawing on Bruner’s narrative theory, as well on recent interactional research on autism and the psychology of self, it is suggested that a relatively limited practice with narrative co-construction might be at the origin of the peculiarities observed. A socio-developmental approach to the understanding of autism not only can provide explanations compatible with first and second person accounts of life with autism, but can also open new paths for researching ways of self-construction that are less reliant on social interaction. The article finally challenges assumptions in psychological research about the ability of humans to access their internal states, and discusses how such assumptions can deter understanding of atypical populations.

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6. Isenberg BM, Yule AM, McKowen JW, Nowinski LA, Forchelli GA, Wilens TE. Considerations for Treating Young People With Comorbid Autism Spectrum Disorder and Substance Use Disorder. J Am Acad Child Adolesc Psychiatry. 2019 ; 58(12) : 1139-41.

Although substance use disorder (SUD) and autism spectrum disorder (ASD) are highly comorbid with other mental disorders and commonly have onset during childhood,(1) little attention has been paid to their overlap. Despite limited data suggesting that up to 4% of patients with ASD also have substance-related problems,(2) there are no existing guidelines, protocols, or tailored resources focused on SUD in young people with co-occurring ASD. This is concerning given that the simultaneous presence of these disorders presents unique challenges that complicate clinical care. In particular, many of the symptoms of ASD can interfere with standard SUD treatment. Thus, when treating patients with this comorbidity, practitioners should consider the following : communication difficulties, diminished capacity for motivation and insight, limited social interactions, and obstacles to treatment engagement.

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7. Li W, Pozzo-Miller L. Dysfunction of the corticostriatal pathway in autism spectrum disorders. J Neurosci Res. 2019.

The corticostriatal pathway that carries sensory, motor, and limbic information to the striatum plays a critical role in motor control, action selection, and reward. Dysfunction of this pathway is associated with many neurological and psychiatric disorders. Corticostriatal synapses have unique features in their cortical origins and striatal targets. In this review, we first describe axonal growth and synaptogenesis in the corticostriatal pathway during development, and then summarize the current understanding of the molecular bases of synaptic transmission and plasticity at mature corticostriatal synapses. Genes associated with autism spectrum disorder (ASD) have been implicated in axonal growth abnormalities, imbalance of the synaptic excitation/inhibition ratio, and altered long-term synaptic plasticity in the corticostriatal pathway. Here, we review a number of ASD-associated high-confidence genes, including FMR1, KMT2A, GRIN2B, SCN2A, NLGN1, NLGN3, MET, CNTNAP2, FOXP2, TSHZ3, SHANK3, PTEN, CHD8, MECP2, DYRK1A, RELN, FOXP1, SYNGAP1, and NRXN, and discuss their relevance to proper corticostriatal function.

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8. Pearson JN, Meadan H, Malone KM, Martin BM. Parent and Professional Experiences Supporting African-American Children with Autism. Journal of racial and ethnic health disparities. 2019.

While the identification of autism spectrum disorder (ASD) has stabilized at 1 in 59 children in the USA, and children can now be diagnosed reliably with ASD at 2 years old, African-American children are less likely to be diagnosed with ASD. Once African-American children with ASD are identified, there is a latency between diagnosis and access to services when compared to European American children. In an effort to investigate these disparities, this qualitative study explored the experiences and perceptions of African-American parents of children with ASD. This study also explored the experiences and perceptions of professionals who support African-American children with ASD and their families. Findings indicate that (a) participants identified few facilitators to service access, and (b) both parents and healthcare providers perceived similar barriers and facilitators to early diagnoses and service access. Implications for parents, healthcare providers, and educators are discussed.

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9. Sturrock A, Marsden A, Adams C, Freed J. Observational and Reported Measures of Language and Pragmatics in Young People with Autism : A Comparison of Respondent Data and Gender Profiles. J Autism Dev Disord. 2019.

Female children with autism spectrum disorder (FwASD) and performance intelligence quotient (PIQ) over 70 were compared with male children with ASD (MwASD) and typically developing (TD) controls (age 8-11 years) using a range of language and pragmatic measures. Functional ability was assessed using clinical observations and parent, teacher and self-reports. Results were compared between measures, and with direct assessments of language and pragmatics, in order to identify potential biases. This study found that FwASD performed better than MwASD but worse than TD controls on clinical observations of pragmatic ability. FwASD also performed worst overall on a parental measure of emotions. Additionally, there were patterns of differences between clinician, parent, teacher and self- reports and direct assessments, which indicate the need for assessment data to be collected from multiple informants. Findings also have implications for the accurate identification of ASD in females and appropriate provision of support.

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