Pubmed du 05/06/20

vendredi 5 juin 2020

1. Abadie V, Hamiaux P, Ragot S, Legendre M, Malecot G, Burtin A, Attie-Bitach T, Lyonnet S, Bilan F, Gilbert-Dussardier B, Vaivre-Douret L. Should autism spectrum disorder be considered part of CHARGE syndrome ? A cross-sectional study of 46 patients. Orphanet J Rare Dis ;2020 (Jun 3) ;15(1):136.

BACKGROUND : Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional study, we used specific standardized tools for diagnosing autism (Autism Diagnostic Interview-Revised and Diagnostic and Statistical Manual of Mental Disorders, 5th edition, DSM-5) and evaluating behavioral disorders (Developmental Behavior Checklist-Parents, DBC-P) to investigate a series of individuals with CHARGE syndrome, defined by Verloes’s criteria. We evaluated their adaptive functioning level and sensory particularities and extracted several data items from medical files to assess as potential risk factors for autism and/or behavioral disorders. RESULTS : We investigated 64 individuals with CHARGE syndrome (35 females ; mean age 10.7 years, SD 7.1 years). Among 46 participants with complete results for the Autism Diagnostic Interview-Revised (ADI-R), 13 (28%) had a diagnosis of autism according to the ADI-R, and 25 (54%) had a diagnosis of autism spectrum disorder (ASD) according to the DSM-5 criteria. The frequency of autistic traits in the entire group was a continuum. We did not identify any risk factor for ASD but found a negative correlation between the ADI-R score and adaptive functioning level. Among 48 participants with data for the DBC-P, 26 (55%) had behavioral disorders, which were more frequent in patients with radiological brain anomalies, impaired adaptive functioning, later independent walking, and more sensory particularities. CONCLUSIONS : ASD should be considered to be an independent risk requiring early screening and management in children born with CHARGE syndrome.

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2. Akhter N, Mumtaz N, Saqulain G. Autism Cognizance : A dilemma among medical and Allied Medical practitioners. Pak J Med Sci ;2020 (May-Jun) ;36(4):678-682.

OBJECTIVES : To determine the awareness about autism among Medical and Allied-Medical Practitioners. METHODS : This cross-sectional survey recruited a sample of n=300 participants including n=150 Medical and n=150 Allied-Medical practitioners using convenience sampling from Benazir Bhutto Hospital and Autism Resource Centre, Rawalpindi, Pakistan between 20(th) May 2018 to 20(th) October 2018. Sample included both genders, aged 21 to 50 years. Basic demographic sheet and Knowledge about Childhood Autism among Health Workers (KCAHW) Questionnaire was used to collect data. Statistical analysis was done using SPSS 21. RESULTS : Study revealed the total mean KCAHW score of 15.20 ± 5.17 and 8.84 ± 6.31 for Allied-Medical and Medical practitioners respectively. While the Domain-I mean KCAHW scores was 6.28±2.10 and 3.68±2.41 ; Domain-II score 0.86 ± 0.35 and 0.45 ± 0.50 ; Domain-III score 3.28 ± 1.00 and 1.91 ± 1.65 ; and Domain-IV score of 4.83 ±1.72 and 2.80 ± 1.75 for Allied-Medical and Medical practitioners respectively. CONCLUSION : The present study shows that there is significant awareness regarding autism among Allied-Medical compared to Medical practitioners.

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3. Cabal-Herrera AM, Saldarriaga-Gil W, Salcedo-Arellano MJ, Hagerman RJ. Fragile X associated neuropsychiatric disorders in a male without FXTAS. Intractable Rare Dis Res ;2020 (May) ;9(2):113-118.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the FMR1 gene. In the premutation (PM) the trinucleotide is expanded to 55-200 repeats. PM carriers can present with disorders associated with the PM including fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated ovarian insufficiency (FXPOI). Recently fragile X-associated neuropsychiatric disorders (FXAND) was proposed as an umbrella term to include the neuropsychiatric disorders that are more prevalent in PM carriers compared to the general population such as anxiety, depression, chronic fatigue, alcohol abuse, and psychosis, among others. The patient in our study was evaluated by a team of clinicians from the University del Valle in Cali who traveled to Ricaurte, a Colombian town known for being a genetic geographic cluster of FXS. A detailed medical history was collected and complete physical, neurological and psychiatric evaluations were performed in addition to molecular and neuroradiological studies. We report the case of a 78-year-old man, PM carrier, without FXTAS whose main clinical presentation consists of behavioral changes and psychosis. Brain imaging revealed white matter lesions in the periventricular region and mild cerebral atrophy. Although anxiety and depression are the most common neuropsychiatric manifestations in PM carriers, it is important to perform a complete psychiatric evaluation since some patients may present with behavioral changes and psychosis.

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4. Carpita B, Carmassi C, Calderoni S, Muti D, Muscarella A, Massimetti G, Cremone IM, Gesi C, Conti E, Muratori F, Dell’Osso L. The broad autism phenotype in real-life : clinical and functional correlates of autism spectrum symptoms and rumination among parents of patients with autism spectrum disorder - Corrigendum. CNS Spectr ;2020 (Jun 4):1.

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5. Dinkler L, Taylor MJ, Råstam M, Hadjikhani N, Bulik CM, Lichtenstein P, Gillberg C, Lundström S. Anorexia nervosa and autism : a prospective twin cohort study. J Child Psychol Psychiatry ;2020 (Jun 4)

BACKGROUND : Anorexia nervosa (AN) and autism spectrum disorder (ASD) may be phenotypically and etiologically linked. However, due to the absence of prospective studies, it remains unclear whether the elevation of autistic traits in AN is evident in early childhood. Here, we prospectively investigated autistic traits before and after the first diagnosis of AN. METHODS : In a population-based sample of 5,987 individuals (52.4% female) from the Child and Adolescent Twin Study in Sweden, parents reported autistic traits at ages 9 and 18. AN and ASD diagnoses were retrieved from the Swedish National Patient Register. In addition, AN diagnoses were ascertained by parent-reported treatment for AN. We compared whether individuals with and without AN differed in autistic traits before the first diagnosis of AN (age 9) and after the first diagnosis of AN (age 18). RESULTS : We did not find evidence for elevated autistic traits in 9-year-old children later diagnosed with AN. At age 18, however, there was a marked elevation in restricted/repetitive behavior and interests, but only in the subgroup of individuals with acute AN. A less pronounced elevation was observed for social communication problems. CONCLUSIONS : Coping strategies in individuals with ASD and the somewhat different female ASD phenotype may explain why we did not find elevated autistic traits in children who later developed AN. Alternatively, it is possible that elevated autistic traits were not present prior to the onset of AN, thus questioning the previously reported elevated prevalence of ASD in AN. Future studies should use tailored measurements in order to investigate whether autistic traits in individuals with AN are best conceptualized as an epiphenomenon of the acute AN phase or whether these symptoms indeed represent ASD as a clinically verifiable neurodevelopmental disorder.

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6. Eigsti IM, Fein DA, Dumont-Mathieu T. A Response to the "Challenging Cases" Article, "Questioning a Previous Autism Spectrum Disorder Diagnosis : Can You ’Lose’ the Diagnosis ?". J Dev Behav Pediatr ;2020 (Jun 5)

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7. Fu Y, Zhang J, Li Y, Shi J, Zou Y, Guo H, Yao Z, Wang Y, Hu B. A novel pipeline leveraging surface-based features of small subcortical structures to classify individuals with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry ;2020 (Jun 5):109989.

Autism spectrum disorder (ASD) is accompanied with widespread impairment in social-emotional functioning. Classification of ASD using sensitive morphological features derived from structural magnetic resonance imaging (MRI) of the brain may help us to better understand ASD-related mechanisms and improve related automatic diagnosis. Previous studies using T1 MRI scans in large heterogeneous ABIDE dataset with typical development (TD) controls reported poor classification accuracies (around 60%). This may because they only considered surface-based morphometry (SBM) as scalar estimates (such as cortical thickness and surface area) and ignored the neighboring intrinsic geometry information among features. In recent years, the shape-related SBM achieves great success in discovering the disease burden and progression of other brain diseases. However, when focusing on local geometry information, its high dimensionality requires careful treatment in its application to machine learning. To address the above challenges, we propose a novel pipeline for ASD classification, which mainly includes the generation of surface-based features, patch-based surface sparse coding and dictionary learning, Max-pooling and ensemble classifiers based on adaptive optimizers. The proposed pipeline may leverage the sensitivity of brain surface morphometry statistics and the efficiency of sparse coding and Max-pooling. By introducing only the surface features of bilateral hippocampus that derived from 364 male subjects with ASD and 381 age-matched TD males, this pipeline outperformed five recent MRI-based ASD classification studies with >80% accuracy in discriminating individuals with ASD from TD controls. Our results suggest shape-related SBM features may further boost the classification performance of MRI between ASD and TD.

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8. Gevi F, Belardo A, Zolla L. A metabolomics approach to investigate urine levels of neurotransmitters and related metabolites in autistic children. Biochim Biophys Acta Mol Basis Dis ;2020 (Jun 5):165859.

Since recently metabolic abnormalities in autistic children have been associated with ASD disturbs, the aim of this study is to determine the neurotransmitter levels in urine samples of autistic children and to analyse the altered metabolic pathway involved in their production. Thus, ASD-specific urinary metabolomic patterns were explored in 40 ASD children and 40 matched controls using untargeted metabolomics through UHPLC-mass spectrometry (Q-exactive analyser), and by using XCMS Metlin software for data interpretation. Through this new advanced technique, a more considerable number of urinary altered metabolites were recorded in autistic children, than in the previous investigations, which allowed us to collect metabolites involved in neurotransmitter production. In these subjects, a high amount of dopamine was revealed and an increased amount of homovanillic acid, to the detriment of noradrenaline and adrenaline production, as well as MHPG and vanillylmandelic acid, which were found lower. This indicates that the accumulation of dopamine is not due to its greater production, but its lesser biotransformation into noradrenaline, due to the blockage of the dopamine β-hydroxylase enzyme by 4-cresol and vitamin C, both found in high quantities in autistic subjects. Finally, a decreased amount of the active form of vitamin B6, pyridoxal phosphate (P5P), implicated in biotransformation of glutamate into γ-aminobutyric acid (GABA), was also detected, justifying the lower levels of latter. All of these alterations are correlated with a peculiar intestinal microbiome in autistic subjects, supporting the idea of a microbiota-gut-brain axis, then altered levels of neurotransmitters and altered neuronal transmission exist.

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9. Gillespie-Lynch K, Daou N, Obeid R, Reardon S, Khan S, Goldknopf EJ. What Contributes to Stigma Towards Autistic University Students and Students with Other Diagnoses ?. J Autism Dev Disord ;2020 (Jun 5):1-17.

Little remains known about the degree to which autistic university students are stigmatized relative to students with other diagnoses. We conducted an online survey with students in New York City (n = 633) and Beirut (n = 274). Students with diagnoses that were perceived as dangerous (e.g., psychopathy) were more stigmatized than students with diagnoses that were perceived as less dangerous (e.g., autism). Disruptive autistic behaviors (described via vignettes) evoked more stigma than withdrawn behaviors. Perceived dangerousness predicted autism stigma. Greater acceptance of inequality, less openness, and lower cognitive empathy co-occurred with heightened stigma towards most conditions. Diagnostic labels were typically less stigmatized than behaviors. Findings suggest that interventions are needed to decrease stigma towards varied diagnoses in collegiate communities.

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10. Leader G, O’Reilly M, Gilroy SP, Chen JL, Ferrari C, Mannion A. Comorbid Feeding and Gastrointestinal Symptoms, Challenging Behavior, Sensory Issues, Adaptive Functioning and Quality of Life in Children and Adolescents with Autism Spectrum Disorder. Dev Neurorehabil ;2020 (Jun 4):1-10.

Children and adolescents diagnosed with an autism spectrum disorder (ASD) often demonstrate difficulties with feeding. The goal of the current study was to investigate co-occurring issues that often accompany feeding problems in 120 children and adolescents with ASD. Method : This study investigated the relationship between feeding problems and gastrointestinal symptoms, challenging behavior and sensory issues, quality of life, adaptive functioning and use of complementary and alternative medicine (CAM). Results : High rates of feeding problems, gastrointestinal symptoms, challenging behavior and sensory issues were endorsed by caregivers. Considerable differences were observed in the levels of gastrointestinal symptoms, challenging behavior, sensory issues, quality of life and CAM practices.Conclusion : The results of this study extend the present literature by highlighting comorbid conditions related to feeding problems and how feeding problems impact quality of life and adaptive behavior.

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11. Livingston LA, Ashwin C, Shah P. Electronic communication in autism spectrum conditions. Mol Autism ;2020 (Jun 5) ;11(1):44.

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12. Marsh L, Brown M, McCann E. The views and experiences of fathers regarding their young child’s intellectual and developmental disability diagnosis : findings from a qualitative study. J Clin Nurs ;2020 (Jun 4)

AIMS AND OBJECTIVES : The aim of this paper is to report the views and experiences of fathers following their child’s diagnosis of an intellectual and developmental disability (IDD). BACKGROUND : There is a growing interest in understanding the experiences of fathers of children with IDD given the transformation of the structural change of fathers’ roles within the family and wider society. DESIGN : A qualitative design was used to elicit the view and experiences of fathers. METHODS : A total of ten Irish fathers participated in face-to-face interviews. The data were thematically analysed. The COREQ guidelines for reporting qualitative studies was used in the development of this paper. RESULTS : The key themes that emerged were (i) the confirmation of the child’s diagnosis (ii) the impact of the diagnosis and (iii) father’s motivation to participate in disability research. CONCLUSIONS : This study informs and develops a further understanding of the international evidence-base of fathers receiving a confirmation of a child’s diagnosis of an intellectual and developmental disability, the impact of the diagnosis on fathers and their motivation to share their stories to add to the disability research. Health and social care practitioners have important contributions to make in meeting the needs of fathers. There are specific areas to consider in terms of practice, education and research that require further attention and development to ensure fathers’ distinct needs regarding their child’s diagnosis of IDD are known and responded to effectively. RELEVANCE TO CLINICAL PRACTICE : This study highlights that when the child’s disability is confirmed, fathers experience a diverse range of mixed emotions. Health and social care practitioners including nurses need to be aware of the impact of the diagnosis upon fathers. There is scope to develop the knowledge, skills and confidence of health and social care practitioners regarding the experiences of fathers and how they can further support fathers and their families during the critical time of a disability disclosure.

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13. Mei X, Yang Y, Zhao J, Wang Y, Chen Q, Qian X, Li X, Feng Z. Role of fragile X mental retardation protein in chronic pain. Mol Pain ;2020 (Jan-Dec) ;16:1744806920928619.

Chronic pain has detrimental effects on one’s quality of life. However, its treatment options are very limited, and its underlying pathogenesis remains unclear. Recent research has suggested that fragile X mental retardation protein is involved in the development of chronic pain, making it a potential target for prevention and treatment. The current review of literature will examine the function of fragile X mental retardation protein and its associated pathways, through which we hope to gain insight into how fragile X mental retardation protein may contribute to nociceptive sensitization and chronic pain.

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14. Mitchell MJ, Newall FH, Sokol J, Williams KJ. Simulation-Based Education for Staff Managing Aggression and Externalizing Behaviors in Children With Autism Spectrum Disorder in the Hospital Setting : Pilot and Feasibility Study Protocol for a Cluster Randomized Controlled Trial. JMIR Res Protoc ;2020 (Jun 4) ;9(6):e18105.

BACKGROUND : Children with autism spectrum disorder (ASD) frequently demonstrate aggression and externalizing behaviors in the acute care hospital environment. Pediatric acute care nursing staff are often not trained in managing aggression and, in particular, lack confidence in preventing and managing externalizing behaviors in children with ASD. High-fidelity simulation exercises will be used in this study to provide deliberate practice for acute care pediatric nursing staff in the management of aggressive and externalizing behaviors. OBJECTIVE : The purpose of this study is to conduct a pilot and feasibility cluster randomized controlled trial (RCT) to evaluate the effectiveness of simulation-based education for staff in managing aggression and externalizing behaviors of children with ASD in the hospital setting. METHODS : This study has a mixed design, with between-group and within-participant comparisons to explore the acceptability and feasibility of delivering a large-scale cluster RCT. The trial process, including recruitment, completion rates, contamination, and completion of outcome measures, will be assessed and reported as percentages. This study will assess the acceptability of the simulation-based training format for two scenarios involving an adolescent with autism, with or without intellectual disability, who displays aggressive and externalizing behaviors and the resulting change in confidence in managing clinical aggression. Two pediatric wards of similar size and patient complexity will be selected to participate in the study ; they will be randomized to receive either simulation-based education plus web-based educational materials or the web-based educational materials only. Change in confidence will be assessed using pre- and posttraining surveys for bedside nursing staff exposed to the training and the control group who will receive the web-based training materials. Knowledge retention 3 months posttraining, as well as continued confidence and exposure to clinical aggression, will be assessed via surveys. Changes in confidence and competence will be compared statistically with the chi-square test using before-and-after data to compare the proportion of those who have high confidence between the two arms at baseline and at follow-up. The simulation-based education will be recorded with trained assessors reviewing participants’ abilities to de-escalate aggressive behaviors using a validated tool. This data will be analyzed using mean values and SDs to understand the variation in performance of individuals who undertake the training. Data from each participating ward will be collected during each shift for the duration of the study to assess the number of aggressive incidents and successful de-escalation for patients with ASD. Total change in Code Grey activations will also be assessed, with both datasets analyzed using descriptive statistics. RESULTS : This study gained ethical approval from The Royal Children’s Hospital Melbourne Human Research Ethics Committee (HREC) on November 1, 2019 (HREC reference number : 56684). Data collection was completed in February 2020. Data analysis is due to commence with results anticipated by August 2020. CONCLUSIONS : We hypothesize that this study is feasible to be conducted as a cluster RCT and that simulation-based training will be acceptable for acute care pediatric nurses. We anticipate that the intervention ward will have increased confidence in managing clinical aggression in children with ASD immediately and up to 3 months posttraining. TRIAL REGISTRATION : Australian New Zealand Clinical Trials Registry (ANZCTR) ACTRN12620000139976 ; INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID) : DERR1-10.2196/18105.

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15. Ness S, Pandina G, Jagannatha S, Wathen K, Bangerter A, Manyakov NV, Hendren R, Leventhal B, Murphy D, Dawson G, Drevets WC, Manji HK. Publisher Correction : ASPI : a public-private partnership to develop treatments for autism. Nat Rev Drug Discov ;2020 (Jun) ;19(6):427.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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16. Okyar E, Görker I. Examining the autistic traits in children and adolescents diagnosed with attention-deficit hyperactivity disorder and their parents. BMC Psychiatry ;2020 (Jun 5) ;20(1):285.

BACKGROUND : Attention-Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are two of the most frequently-observed neurodevelopmental disorders. Autistic traits are detected frequently in children who have ADHD. This study aimed to examine autism symptoms in children diagnosed with ADHD and their parents ; and also, to investigate parental risk factors that increase autistic traits in children. Besides the risk factors related to pregnancy, birth and developmental history were examined. METHODS : Two groups were created consisting of 66 children diagnosed with ADHD and 33 children not diagnosed with ADHD and their parents. Autism symptoms were screened with the Autism Behavior Checklist (ABC) in children, and Autism Spectrum Quotient (AQ) in parents. Also, Adult ADD/ADHD DSM-IV Based Diagnostic Screening and Rating Scale and Wender Utah Rating Scale (WURS) were used to determine ADHD symptoms in parents. RESULTS : It was determined that there were more autism symptoms in children who were diagnosed with ADHD than in the control group without ADHD. There were more autistic symptoms in boys and the presence of Oppositional Defiant Disorder (ODD). Although there were more ADHD symptoms in the parents of children diagnosed with ADHD, it was determined that they did not differ from parents in the control group in terms of autism symptoms. It was also determined that maternal and paternal ADHD symptoms were predictive for autism symptoms in children. It was also shown that maternal smoking during pregnancy is associated with more autistic traits. CONCLUSION : ASD and ADHD show high levels of comorbidity. The etiology remains unclear. Both ADHD and ASD show strong hereditary transition. We found that maternal and paternal ADHD symptoms predict autism symptoms in children with ADHD. However, more studies are needed to reveal the etiology.

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17. Rio CAC, Nunez-Parra A, Freedman S, Kushner JK, Alexander AL, Restrepo D, Huntsman MM. Disrupted inhibitory plasticity and homeostasis in Fragile X syndrome. Neurobiol Dis ;2020 (Jun 5):104959.

Fragile X Syndrome (FXS) is a neurodevelopmental disorder instigated by the absence of a key translation regulating protein, Fragile X Mental Retardation Protein (FMRP). The loss of FMRP in the CNS leads to abnormal synaptic development, disruption of critical periods of plasticity, and an overall deficiency in proper sensory circuit coding leading to hyperexcitable sensory networks. However, little is known about how this hyperexcitable environment affects inhibitory synaptic plasticity. Here, we show that in vivo layer 2/3 of the primary somatosensory cortex of the Fmr1 KO mouse exhibits basal hyperexcitability and an increase in neuronal firing rate suppression during whisker activation. This aligns with our in vitro data that indicate an increase in GABAergic spontaneous activity, a faulty mGluR-mediated inhibitory input and impaired inhibitory plasticity processes. Specifically, we find that mGluR activation sensitivity is overall diminished in the Fmr1 KO mouse leading to both a decreased spontaneous inhibitory postsynaptic input to principal cells and a disrupted form of inhibitory long-term depression (I-LTD). These data suggest an adaptive mechanism that acts to homeostatically counterbalance the cortical hyperexcitability observed in FXS.

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18. Ritz B, Yan Q, Uppal K, Liew Z, Cui X, Ling C, Inoue K, von Ehrenstein O, Walker DI, Jones DP. Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring. Autism Res ;2020 (Jun 4)

Discovering pathophysiologic networks in a blood-based approach may help to generate valuable tools for early treatment or preventive measures in autism. To date targeted or untargeted metabolomics approaches to identify metabolic features and pathways affecting fetal neurodevelopment have rarely been applied to pregnancy samples, that is, an early period potentially relevant for the development of autism spectrum disorders (ASD). We conducted a population-based study relying on autism diagnoses retrieved from California Department of Developmental Services record. After linking cases to and sampling controls from birth certificates, we retrieved stored maternal mid-pregnancy serum samples collected as part of the California Prenatal Screening Program from the California Biobank for children born 2004 to 2010 in the central valley of California. We retrieved serum for 52 mothers whose children developed autism and 62 population controls originally selected from all eligible children matched by birth year and child’s sex. Also, we required that these mothers were relatively low or unexposed to air pollution and select pesticides during early pregnancy. We identified differences in metabolite levels in several metabolic pathways, including glycosphingolipid biosynthesis and metabolism, N-glycan and pyrimidine metabolism, bile acid pathways and, importantly, C21-steroid hormone biosynthesis and metabolism. Disturbances in these pathways have been shown to be relevant for neurodevelopment in rare genetic syndromes or implicated in previous studies of autism. This study provides new insight into maternal mid-pregnancy metabolic features possibly related to the development of autism and an incentive to explore whether these pathways and metabolites are useful for early diagnosis, treatment, or prevention. LAY SUMMARY : This study found that in mid-pregnancy the blood of mothers who give birth to a child that develops autism has some characteristic features that are different from those of blood samples taken from control mothers. These features are related to biologic mechanisms that can affect fetal brain development. In the future, these insights may help identify biomarkers for early autism diagnosis and treatment or preventive measures.

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19. Seernani D, Ioannou C, Damania K, Spindler K, Hill H, Foulsham T, Smyrnis N, Bender S, Fleischhaker C, Biscaldi M, Ebner-Priemer U, Klein C. Studying global processing in autism and attention-deficit/hyperactivity disorder with gaze movements : The example of a copying task. PLoS One ;2020 ;15(6):e0224186.

Recent discussions in the literature, along with the revision of the Diagnostic and Statistical Manual (DSM) (American Psychiatric Association 2013), suggest aetiological commonalities between the highly comorbid Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). Addressing this discussion requires studying these disorders together by comparing constructs typical to each of them. In the present study, we investigate global processing, known to be difficult for participants with ASD, and Intra-Subject Variability (ISV), known to be consistently increased in participants with ADHD, in groups, aged 10-13 years, with ADHD (n = 25), ASD without comorbid ADHD (ASD-) (n = 13) and ASD with ADHD (ASD+) (n = 18) in comparison with a typically developing group (n = 22). A Copying task, typically requiring global processing and in this case particularly designed using equally complex stimuli to also measure ISV across trials, was selected. Oculomotor measures in this task proved to be particularly sensitive to group differences. While increased ISV was not observed in the present task in participants with ADHD, both ASD groups looked longer on the figure to be drawn, indicating that global processing takes longer in ASD. However, the ASD+ group fixated on the figure only between drawing movements, whereas the ASD- group did this throughout the drawing process. The present study provides evidence towards ASD and ADHD being separate, not-overlapping, disorders. Since the pure ASD- group was affected more by central coherence problems than the ASD+ group, it may suggest that neuropsychological constructs interact differently in different clinical groups and sub-groups.

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20. Zuliani I, Urbinati C, Valenti D, Quattrini MC, Medici V, Cosentino L, Pietraforte D, Di Domenico F, Perluigi M, Vacca RA, De Filippis B. The Anti-Diabetic Drug Metformin Rescues Aberrant Mitochondrial Activity and Restrains Oxidative Stress in a Female Mouse Model of Rett Syndrome. J Clin Med ;2020 (Jun 1) ;9(6)

Metformin is the first-line therapy for diabetes, even in children, and a promising attractive candidate for drug repurposing. Mitochondria are emerging as crucial targets of metformin action both in the periphery and in the brain. The present study evaluated whether treatment with metformin may rescue brain mitochondrial alterations and contrast the increased oxidative stress in a validated mouse model of Rett syndrome (RTT), a rare neurologic disorder of monogenic origin characterized by severe behavioral and physiological symptoms. No cure for RTT is available. In fully symptomatic RTT mice (12 months old MeCP2-308 heterozygous female mice), systemic treatment with metformin (100 mg/kg ip for 10 days) normalized the reduced mitochondrial ATP production and ATP levels in the whole-brain, reduced brain oxidative damage, and rescued the increased production of reactive oxidizing species in blood. A 10-day long treatment with metformin also boosted pathways related to mitochondrial biogenesis and antioxidant defense in the brain of metformin-treated RTT mice. This treatment regimen did not improve general health status and motor dysfunction in RTT mice at an advanced stage of the disease. Present results provide evidence that systemic treatment with metformin may represent a novel, repurposable therapeutic strategy for RTT.

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