Pubmed du 03/01/19

jeudi 3 janvier 2019

1. Bjorklund G, Waly MI, Al-Farsi Y, Saad K, Dadar M, Rahman MM, Elhoufey A, Chirumbolo S, Jozwik-Pruska J, Kaluzna-Czaplinska J. The Role of Vitamins in Autism Spectrum Disorder : What Do We Know ?. Journal of molecular neuroscience : MN. 2019.

Vitamin or mineral supplementation is considered to be the most commonly used medical treatment for autism spectrum disorder (ASD), in addition to other interventions such as neurological and psychological interventions. There is not much evidence of therapeutic efficacy between vitamin and mineral supplementation and improvements in ASD. However, several researchers have noted that patients with ASD have various metabolic and nutritional abnormalities including issues with sulfation, methylation, glutathione redox imbalances, oxidative stress, and mitochondrial dysfunction. There is some evidence that vitamin and mineral supplementation may support these basic physiologic processes. Recently, the nutritional status of ASD patients has been gaining focus in this particular area. Pointing out the nutritional status as a potential etiological factor for attention/communication disorders, more importance has been given to this particular point. Moreover, autistic specific considerations like the feature and behavior of ASD might be increased or at least fall in the higher risk due to the sub-optimal nutritional status.

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2. Cariveau T, Shillingsburg MA, Alamoudi A, Thompson T, Bartlett B, Gillespie S, Scahill L. Brief Report : Feasibility and Preliminary Efficacy of a Behavioral Intervention for Minimally Verbal Girls with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2019.

We report the feasibility and preliminary efficacy of a structured behavioral intervention with a sample of minimally verbal girls with autism spectrum disorder between the ages of 2 and 6 years old. Ten participants with no functional vocal behavior were randomized to a 4-week behavioral intervention or waitlist control group. Caregivers reported child communicative repertoires at pre- and post-randomization assessments. Social communication was also assessed at these time points using the Early Social Communication Scales. All feasibility benchmarks were met and findings of preliminary efficacy showed large effect sizes within groups. The current findings suggest the feasibility of recruiting and retaining samples of young, minimally verbal girls with autism spectrum disorder in randomized clinical trials.

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3. Edinger ZS, Powers KA, Jordan KS, Callaway DW. Evaluation of an Online Educational Intervention to Increase Knowledge and Self-efficacy in Disaster Responders and Critical Care Transporters Caring for Individuals with Developmental Disabilities. Disaster medicine and public health preparedness. 2019 : 1-5.

OBJECTIVE : Disability-related education is essential for disaster responders and critical care transporters to ensure positive patient outcomes. This pilot study evaluated the effect of an online educational intervention on disaster responders and critical care transporters’ knowledge of and feelings of self-efficacy about caring for individuals with developmental disabilities. METHODS : A 1-group, pretest-posttest, quasi-experimental design was used. A convenience sample of 33 disaster responders and critical care transporters participated. RESULTS : Of the 33 participants, only 24% had received prior education on this topic, and 88% stated that such education would be beneficial to their care of patients. Nineteen participants completed both the pretest and posttest, and overall performance on knowledge items improved from 66% correct to 81% correct. Self-efficacy for caring for developmentally disabled individuals improved, with all 10 items showing a statistically significant improvement. CONCLUSION : Online education is recommended to improve the knowledge and self-efficacy of disaster responders and critical care transporters who care for this vulnerable population after disasters and emergencies. (Disaster Med Public Health Preparedness. 2018 ;Page 1 of 5).

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4. Fogler J, Kuhn J, Prock L, Radesky J, Gonzalez-Heydrich J. Diagnostic Uncertainty in a Complex Young Man : Autism Versus Psychosis. Journal of developmental and behavioral pediatrics : JDBP. 2019 ; 40(1) : 72-4.

CASE : James is a 7(1/2)-year-old boy born in Vietnam to a mother with mental illness. Little is known about his early history ; he spent the first 6 months of his life in an orphanage, followed by foster care and a disrupted adoption. He moved to the U.S. at age 1(1/2) and joined his current adoptive family at age 4 years. Shortly thereafter, James’ psychiatric nurse practitioner diagnosed him with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Pragmatic language and syntax deficits were also noted from an early age.James is now exhibiting anxiety, perseverative beliefs, and regression in his toileting. He began "talking to himself in his room" and using neologisms. A school-based evaluation resulted in educational diagnoses of ADHD and ASD based on social disconnectedness and invading others’ personal space. James’ parents felt "something else was going on" and sought a second opinion with a multidisciplinary team (consisting of a pediatric psychologist and a developmental pediatrician). Considering James’ history, previous assessments, and their assessment battery (Behavior Assessment System for Children, Behavior Rating Inventory of Executive Function, and Autism Diagnostic Observation Schedule, and Rorschach Inkblot Test), the team characterized his current symptoms as an emerging psychotic disorder.Several consultations occurred over the next 9 months of the school term. First, clinicians in the psychiatry department confirmed symptoms of functional decline, cognitive disorganization, and hallucinations, which were attributed to post-traumatic stress rather than a psychotic disorder. Second, adding to the diagnostic uncertainty, when James started an atypical antipsychotic medication and was under good symptom control, the school team believed that ADHD-not psychosis-best accounted for his presentation. There was significant contention between the medical team and consulting school psychologist regarding the extent to which data from the parental history and Rorschach should be considered in formulating the patient’s diagnosis.Two-and-a-half years later, James was weaned off risperidone to manage a new side effect of tics. He subsequently manifested significant paranoia with reactive aggression toward peers for imagined slights and insults that he could "swear he heard." A different school-contracted psychologist’s re-evaluation corroborated the diagnosis of schizophrenia based on the several years of unfolding clinical observations. Acting from the supposition that early-onset psychosis was too rare and too stigmatizing a condition to apply to a "kid who’s just having trouble paying attention," the first school psychologist remained adamant that ADHD and ASD were the most appropriate diagnoses, and James would be ill-served "pumped full of neuroleptics."He returns now to the original Developmental Behavioral Pediatric consulting team. What would you do to try to bridge this impasse ?

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5. Hassan MH, Desoky T, Sakhr HM, Gabra RH, Bakri AH. Possible Metabolic Alterations among Autistic Male Children : Clinical and Biochemical Approaches. Journal of molecular neuroscience : MN. 2019.

The present cross-sectional, hospital-based study was carried out on 146 Egyptian male children, 73 males with autism who were comparable with another 73 healthy age- and sex-matched children, recruited from the outpatients’ psychiatric clinics of the Neuropsychiatric and Pediatric Departments of South Valley and Assiut University Hospitals, Egypt. Neuropsychological assessments of autistic males were done using CARS, short sensory profile and intelligent quotients. Serum markers of mitochondrial dysfunction (lactate, pyruvate, and lactate to pyruvate ratio, creatine kinase (CK), L-carnitine, ammonia, lactate dehydrogenase, pyruvate kinase, alanine transaminase and aspartate transaminase), oxidative stress and blood levels of heavy metals (mercury, lead and aluminium) were measured. Serum cholesterol, cortisol, free testosterone, estradiol, dehydroepiandrostenedione, adenosine deaminase and Helicobacter pylori antigen in stool were also performed. There was evidence of mitochondrial dysfunction among autistic children. Additionally, there were significantly lower serum total cholesterol, cortisol and estradiol as well as significantly higher dehydroepiandrostenedione (DHEA) and free testosterone (p < 0.05 for all markers). Twenty-eight (38%) cases were positive for H. pylori antigen in their stool with significant higher serum ammonia and lower adenosine deaminase than in H. pylori-negative autistic children. Mitochondrial dysfunction, H. pylori infection and low cholesterol were prevalent among autistic male children, which should be targeted during autism management.

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6. Jashar DT, Fein D, Berry LN, Burke JD, Miller LE, Barton ML, Dumont-Mathieu T. Parental Perceptions of a Comprehensive Diagnostic Evaluation for Toddlers at Risk for Autism Spectrum Disorder. Journal of autism and developmental disorders. 2019.

Parent satisfaction with neurodevelopmental evaluations may influence the pursuit of intervention. Parent satisfaction with a neurodevelopmental evaluation for toddlers at risk for autism (n = 257 ; 128 with autism) was examined using the Post-Evaluation Satisfaction Questionnaire, which collected quantitative and qualitative information. Fewer ethnic/racial minority than non-minority parents returned the questionnaire. Factor analysis indicated a one-factor model, Total score, which did not differ significantly by diagnosis, autism severity, child’s cognitive or adaptive delay, family race/ethnicity, maternal education, family annual income, or parental stress. Examination of 24 individual items showed a race/ethnicity difference for only one item ; minority parents scored the evaluation as meeting their needs less. Qualitative data stressed the importance of fully explaining diagnoses/recommendations and providing direct and clear feedback.

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7. Mazahery H, Conlon CA, Beck KL, Mugridge O, Kruger MC, Stonehouse W, Camargo CA, Jr., Meyer BJ, Tsang B, Jones B, von Hurst PR. A Randomised-Controlled Trial of Vitamin D and Omega-3 Long Chain Polyunsaturated Fatty Acids in the Treatment of Core Symptoms of Autism Spectrum Disorder in Children. Journal of autism and developmental disorders. 2019.

We evaluated the efficacy of vitamin D (VID), omega-3 long chain polyunsaturated fatty acids (omega-3 LCPUFA, OM), or both (VIDOM) on core symptoms of ASD. New Zealand children with ASD (n = 73 ; aged 2.5-8.0 years) received daily 2000 IU vitamin D3, 722 mg docosahexaenoic acid, both, or placebo. Outcome measures were Social Responsiveness Scale (SRS) and Sensory Processing Measure (SPM). Of 42 outcome measures comparisons (interventions vs. placebo), two showed greater improvements (P = 0.03, OM and VIDOM for SRS-social awareness) and four showed trends for greater improvements (P < 0.1, VIDOM for SRS-social communicative functioning, OM for SRS-total, VIDOM for SPM-taste/smell and OM for SPM-balance/motion). Omega-3 LCPUFA with and without vitamin D may improve some core symptoms of ASD but no definitive conclusions can be made.

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8. Naguy A, Alrashidi F, AlShalabi SR. Mirtazapine for Inappropriate Sexual Behaviors in Autism. American journal of therapeutics. 2018.

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9. Pijl MKJ, Bussu G, Charman T, Johnson MH, Jones EJH, Pasco G, Oosterling IJ, Rommelse NNJ, Buitelaar JK. Temperament as an Early Risk Marker for Autism Spectrum Disorders ? A Longitudinal Study of High-Risk and Low-Risk Infants. Journal of autism and developmental disorders. 2019.

To investigate temperament as an early risk marker for autism spectrum disorder (ASD), we examined parent-reported temperament for high-risk (HR, n = 170) and low-risk (LR, n = 77) siblings at 8, 14, and 24 months. Diagnostic assessment was performed at 36 months. Group-based analyses showed linear risk gradients, with more atypical temperament for HR-ASD, followed by HR-Atypical, HR-Typical, and LR siblings. Temperament differed significantly between outcome groups (0.03 </= etap(2) </= 0.34). Machine learning analyses showed that, at an individual level, HR-ASD siblings could not be identified accurately, whereas HR infants without ASD could. Our results emphasize the discrepancy between group-based and individual-based predictions and suggest that while temperament does not facilitate early identification of ASD individually, it may help identify HR infants who do not develop ASD.

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10. Velikonja T, Fett AK, Velthorst E. Patterns of Nonsocial and Social Cognitive Functioning in Adults With Autism Spectrum Disorder : A Systematic Review and Meta-analysis. JAMA psychiatry. 2019.

Importance : Many studies have investigated impairments in cognitive domains in adults with autism spectrum disorder (ASD). Yet, to date, a comprehensive overview on the patterns of cognitive functioning is lacking. Objective : To provide an overview of nonsocial and social cognitive functioning in various domains in adults with ASD, allowing for comparison of the severity of deficits between different domains. Data Sources : A literature search performed in an academic medical setting was conducted using PubMed, PsycINFO, Embase, and Medline databases with the combination of the following free-text and Medical Subject Headings where applicable : [cogniti* OR neurocogniti* OR neuropsycholog* OR executive function* OR IQ OR intelligence quotient OR social cognition OR emotion perception OR affect perception OR emotion recognition OR attribution OR ToM OR mentalising OR mentalizing OR prosody OR social knowledge OR mind reading OR social cue OR social judgment] AND [autis* OR ASD OR Asperger OR Asperger’s OR PDD OR pervasive developmental disorder]. The search was further limited to studies published between 1980 (first inclusion of autism diagnosis in the DSM-III) and July 2018. Study Selection : Studies included were published as a primary peer-reviewed research article in English, included individuals with ASD 16 years or older, and assessed at least 1 domain of neurocognitive functioning or social cognition using standard measures. Data Extraction and Synthesis : Of 9892 articles identified and screened, 75 met the inclusion criteria for the systematic review and meta-analysis. Main Outcomes and Measures : Hedges g effect sizes were computed, and random-effects models were used for all analyses. Moderators of between-study variability in effect sizes were assessed using meta-regressions. Results : The systematic review and meta-analysis included 75 studies, with a combined sample of 3361 individuals with ASD (mean [SD] age, 32.0 [9.3] years ; 75.9% male) and 5344 neurotypical adults (mean [SD] age, 32.3 [9.1] years ; 70.1% male). Adults with ASD showed large impairments in theory of mind (g = -1.09 ; 95% CI, -1.25 to -0.92 ; number of studies = 39) and emotion perception and processing (g = -0.80 ; 95% CI, -1.04 to -0.55 ; n = 18), followed by medium impairments in processing speed (g = -0.61 ; 95% CI, -0.83 to -0.38 ; n = 21) and verbal learning and memory (g = -0.55 ; 95% CI, -0.86 to -0.25 ; n = 12). The least altered cognitive domains were attention and vigilance (g = -0.30 ; 95% CI, -0.81 to 0.21 ; n = 5) and working memory (g = -0.23 ; 95% CI, -0.47 to 0.01 ; n = 19). Meta-regressions confirmed robustness of the results. Conclusions and Relevance : Results of this systematic review and meta-analysis suggest that adults with ASD show impairments in social cognitive domains and in specific nonsocial cognitive domains. These findings contribute to the understanding of the patterns of cognitive functioning in adults with ASD and may assist in the identification of targets for cognitive interventions.

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11. Wu LL, Mao SS, Lin X, Yang RW, Zhu ZW. Evaluation of Whole Blood Trace Element Levels in Chinese Children with Autism Spectrum Disorder. Biological trace element research. 2019.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, which has increased markedly during the last decades. Essential trace elements play an important role in neurological function and their imbalances are common in children with ASD. The objective of the present study was to investigate whole blood levels of trace elements including zinc (Zn), copper (Cu), iron (Fe), and magnesium (Mg) in Chinese children with ASD. In total, 113 children diagnosed with ASD and 141 age-matched and gender-matched neurotypical children, divided into two gender and age groups of preschool age (2-5 years old) and school (6-10 years old) age, were examined. The quantitative analyses of whole blood trace element contents were performed by using flame atomic absorption spectroscopy. In the present study, the children with ASD generally had lower whole blood levels of Zn than the neurotypical controls. No significant differences in the whole blood Cu, Zn/Cu ratio, Fe, or Mg was detected between the ASD group and the control group. It is notable that whole blood Fe level in boys with ASD was significantly higher than in girls with ASD, and was nearly significant when compared with the control level of boys. After stratification for age, a significant 6% decrease in whole blood Zn levels was detected in preschool-aged children with ASD as compared to the control values. However, this significant ASD-related change was not detected in school-aged children. The whole blood Zn level and Zn/Cu ratio were significantly increased in school-aged children than in preschool-aged children in both ASD and control group. In addition, school-aged children with ASD had a significantly higher level of whole blood Fe than preschool-aged children with ASD. The results of the present study suggest an association between whole blood levels of Zn in Chinese children with ASD.

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12. Zhang XC, Shu LQ, Zhao XS, Li XK. Autism spectrum disorders : autistic phenotypes and complicated mechanisms. World journal of pediatrics : WJP. 2019.

BACKGROUND : Autism spectrum disorder (ASD), a pervasive developmental neurological disorder, is characterized by impairments in social interaction and communication, and stereotyped, repetitive patterns of interests or behaviors. The mechanism of ASDs is complex, and genetic components and epigenetic modifications play important roles. In this review, we summarized the recent progresses of ASDs focusing on the genetic and epigenetic mechanisms. We also briefly discussed current animal models of ASD and the application of high-throughput sequencing technologies in studying ASD. DATA SOURCES : Original research articles and literature reviews published in PubMed-indexed journals. RESULTS : Individuals with ASDs exhibit a set of phenotypes including neurological alteration. Genetic components including gene mutation, copy-number variations, and epigenetic modifications play important and diverse roles in ASDs. The establishment of animal models and development of new-generation sequencing technologies have contributed to reveal the complicated mechanisms underlying autistic phenotypes. CONCLUSIONS : Dramatic progress has been made for understanding the roles of genetic and epigenetic components in ASD. Future basic and translational studies should be carried out towards those candidate therapeutic targets.

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