Pubmed du 14/10/19

lundi 14 octobre 2019

1. Bejarano-Martin A, Canal-Bedia R, Magan-Maganto M, Fernandez-Alvarez C, Cilleros-Martin MV, Sanchez-Gomez MC, Garcia-Primo P, Rose-Sweeney M, Boilson A, Linertova R, Roeyers H, Van der Paelt S, Schendel D, Warberg C, Cramer S, Narzisi A, Muratori F, Scattoni ML, Moilanen I, Yliherva A, Saemundsen E, Loa Jonsdottir S, Efrim-Budisteanu M, Arghir A, Papuc SM, Vicente A, Rasga C, Roge B, Guillon Q, Baduel S, Kafka JX, Poustka L, Kothgassner OD, Kawa R, Pisula E, Sellers T, Posada de la Paz M. Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU) : Family and Professional Perspectives. J Autism Dev Disord ;2019 (Oct 12)

Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents ; 39.1% professionals). Using an ordinal scale from 1 to 7, parents’ opinions were more negative (mean = 4.6 ; SD 2.2) compared to those of professionals (mean = 4.9 ; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child’s age, delays in accessing services, and active stakeholders’ participation when looking to improve services.

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2. Frohlich H, Kollmeyer ML, Linz VC, Stuhlinger M, Groneberg D, Reigl A, Zizer E, Friebe A, Niesler B, Rappold G. Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 (+/-) mice. Proc Natl Acad Sci U S A ;2019 (Oct 14)

Gastrointestinal dysfunctions in individuals with autism spectrum disorder are poorly understood, although they are common among this group of patients. FOXP1 haploinsufficiency is characterized by autistic behavior, language impairment, and intellectual disability, but feeding difficulties and gastrointestinal problems have also been reported. Whether these are primary impairments, the result of altered eating behavior, or side effects of psychotropic medication remains unclear. To address this question, we investigated Foxp1 (+/-) mice reflecting FOXP1 haploinsufficiency. These animals show decreased body weight and altered feeding behavior with reduced food and water intake. A pronounced muscular atrophy was detected in the esophagus and colon, caused by reduced muscle cell proliferation. Nitric oxide-induced relaxation of the lower esophageal sphincter was impaired and achalasia was confirmed in vivo by manometry. Foxp1 targets (Nexn, Rbms3, and Wls) identified in the brain were dysregulated in the adult Foxp1 (+/-) esophagus. Total gastrointestinal transit was significantly prolonged due to impaired colonic contractility. Our results have uncovered a previously unknown dysfunction (achalasia and impaired gut motility) that explains the gastrointestinal disturbances in patients with FOXP1 syndrome, with potential wider relevance for autism.

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3. Joshi G, DiSalvo M, Wozniak J, Ceranoglu TA, Yule A, Surman C, Fried R, Galdo M, Hoskova B, Belser A, Biederman J. A Prospective Open-Label Trial of Long-Acting Liquid Methylphenidate for the Treatment of Attention Deficit/Hyperactivity Disorder in Intellectually Capable Adults with Autism Spectrum Disorder. World J Biol Psychiatry ;2019 (Oct 14):1-42.

Objectives : This treatment trial is aimed at assessing the short-term tolerability and efficacy of liquid-formulation extended-release methylphenidate (MPH-ER) for the treatment of ADHD in adults with high-functioning autism spectrum disorder (HF-ASD). Methods : Six-week open-label trial ( : NCT02096952) was conducted in 15 HF-ASD adults (mean age : 24.9 +/- 4.6 ; male : 12 [80%]) suffering from moderate-severe ADHD. MPH-ER was administered based on a flexible titration schedule. Efficacy was assessed on clinician- and self-rated measures. Tolerability was assessed by documenting treatment-emergent adverse events (AEs) and other safety measures. Results : Short-term MPH-ER treatment was associated with significant improvement in ADHD severity (Adult ADHD Investigator Symptom Report Scale [AISRS] mean change [MC] : -22.8 +/- 8.8, p < 0.001 ; Adult ADHD Self-Report Scale [ASRS] MC : -8.2 +/- 15.3, p < 0.001). Twelve (80%) participants were deemed responders, based on >/=30% reduction in AISRS score and an ADHD Clinical Global Impression-Improvement score </=2. MPH-ER was well-tolerated (treatment-limiting AEs : 1/15 ; severe AEs : 1/15) at mean dose of 48.7 +/- 15 mg/day. AEs were transient and experienced by 13/15 (87%) participants at mild to moderate severity. Frequently reported AEs were as typically expected (headache [53%], insomnia [33%], anxiety [33%], decreased appetite [27%]). Conclusions : Our findings suggest that MPH-ER is effective and well-tolerated in the treatment of ADHD in HF-ASD adults.

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4. Lin FY, Zhu J. Comparison of two discrimination methods in teaching Chinese children with autism. J Appl Behav Anal ;2019 (Oct 14)

In teaching conditional discriminations to children with autism spectrum disorder (ASD), practitioners may progress from simple to conditional discriminations or may teach conditional discriminations from the onset of instruction. Some research indicates that teaching simple discriminations first may be unnecessary and that teaching may more efficiently focus on conditional discriminations exclusively. This study replicated comparisons of simple-to-conditional and conditional-only discrimination training methods in teaching audio-visual conditional discriminations to Chinese preschoolers with ASD. Results indicated the conditional-only training method appeared to be more efficient in teaching these skills.

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5. Magana S, Lopez K, Salkas K, Iland E, Morales MA, Garcia Torres M, Zeng W, Machalicek W. A Randomized Waitlist-Control Group Study of a Culturally Tailored Parent Education Intervention for Latino Parents of Children with ASD. J Autism Dev Disord ;2019 (Oct 12)

This two-site randomized waitlist-control study (n = 96 mother-child dyads) examined the efficacy of a psychoeducation program as compared to usual care to empower Latina mothers and improve their confidence in and use of evidence-based practices (EBPs) for their children with ASD. A secondary aim was to improve child outcomes. Compared to control group, we found significant positive changes in the treatment group in maternal confidence of and frequency in use of EBPs, child social communication and the number of EB services the child received. We found no significant differences for the treatment group in family empowerment or in child challenging behaviors. This RCT presents evidence of an efficacious intervention for Latino children with ASD and their mothers in California and Illinois.

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6. Pecorelli A, Cordone V, Messano N, Zhang C, Falone S, Amicarelli F, Hayek J, Valacchi G. Altered inflammasome machinery as a key player in the perpetuation of Rett syndrome oxinflammation. Redox Biol ;2019 (Oct 6) ;28:101334.

Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. RTT patients show multisystem disturbances associated with an oxinflammatory status. Inflammasomes are multi-protein complexes, responsible for host immune responses against pathogen infections and redox-related cellular stress. Assembly of NLRP3/ASC inflammasome triggers pro-caspase-1 activation, thus, resulting in IL-1beta and IL-18 maturation. However, an aberrant activation of inflammasome system has been implicated in several human diseases. Our aim was to investigate the possible role of inflammasome in the chronic subclinical inflammatory condition typical of RTT, by analyzing this complex in basal and lipopolysaccharide (LPS)+ATP-stimulated primary fibroblasts, as well as in serum from RTT patients and healthy volunteers. RTT cells showed increased levels of nuclear p65 and ASC proteins, pro-IL-1beta mRNA, and NLRP3/ASC interaction in basal condition, without any further response upon the LPS + ATP stimuli. Moreover, augmented levels of circulating ASC and IL-18 proteins were found in serum of RTT patients, which are likely able to amplify the inflammatory response. Taken together, our findings suggest that RTT patients exhibited a challenged inflammasome machinery at cellular and systemic level, which may contribute to the subclinical inflammatory state feedback observed in this pathology.

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7. White SW, Smith IC, Miyazaki Y, Conner CM, Elias R, Capriola-Hall NN. Improving Transition to Adulthood for Students with Autism : A Randomized Controlled Trial of STEPS. J Clin Child Adolesc Psychol ;2019 (Oct 14):1-15.

Emerging adulthood is a period of heightened risk for young people with autism spectrum disorder (ASD). Due in part to a lack of evidence-based services and supports during the transition to adulthood, many emerging adults fail to matriculate into postsecondary education or thrive in productive employment. The Stepped Transition in Education Program for Students with ASD (STEPS) was developed to address the psychosocial, transition-related needs of emerging adults with ASD. Adolescents and emerging adults (n = 59) with ASD were randomly assigned to either STEPS or transition as usual (TAU). Results indicate that STEPS is acceptable to young people with ASD and their parents and that it can be implemented with high fidelity. Among secondary school students, those who completed STEPS exhibited significantly greater gains in transition readiness from high school, and these gains were largely sustained after program completion. Among students enrolled in postsecondary education, STEPS resulted in increased levels of student adaptation to college relative to those in TAU. Programming to address ASD-related challenges can promote successful educational transitions.

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