Pubmed du 17/01/20

vendredi 17 janvier 2020

1. Correction : Quantification of speech and synchrony in the conversation of adults with autism spectrum disorder. PLoS One ;2020 ;15(1):e0227387.

[This corrects the article DOI : 10.1371/journal.pone.0225377.].

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2. Adams D, Emerson LM. Family accommodation of anxiety in a community sample of children on the autism spectrum. J Anxiety Disord ;2020 (Jan 17) ;70:102192.

Anxiety is recognised as one of the most common co-occurring conditions for individuals with a diagnosis on the autism spectrum, with approximately 40 % of children on the spectrum receiving a clinical diagnosis of an anxiety disorder. To date, research has tended to focus upon understanding presentation and evaluating treatment, with little focus on assessing systemic factors, such as the way that family members accommodate the anxiety. This study aimed to investigate the relationship between parent and child anxiety levels and child autism characteristics on the four domains of family accommodation ; Participation, Modification, Distress, and Consequence. A community sample (n = 132) of parents of children on the spectrum completed questionnaires on their child’s autism characteristics and anxiety symptomatology as well as their own levels of anxiety and family accommodation behaviours. Regression models identified specific aspects of child anxiety as well as parent anxiety as predictive of family accommodation, with the child’s difficulties with uncertainty being a consistent predictor of all four domains. Clinical and research implications of this study, including the importance of understanding similarities or differences in the nature and consequence of family accommodation in children on the autism spectrum, are discussed.

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3. Anderson G. Autism Spectrum Disorder : Pathophysiology and Treatment Implications. Curr Pharm Des ;2019 ;25(41):4319-4320.

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4. Carruthers S, Pickles A, Slonims V, Howlin P, Charman T. Beyond intervention into daily life : A systematic review of generalisation following social communication interventions for young children with autism. Autism Res ;2020 (Jan 14)

Researchers have generally considered autistic individuals to have difficulties generalising learned skills across novel contexts. Successful generalisation is necessary for an intervention to have benefits in everyday life beyond the original learning environment. We conducted a systematic review of randomised controlled trials of early social communication interventions for children with autism in order to explore generalisation and its measurement. We identified nine RCTs that provided evidence of initial target learning and measured generalisation, of which eight demonstrated at least some successful generalisation across people, settings, and/or activities. The findings did not support the widely reported generalisation ’difficulties’ associated with autism. However, generalisation was not consistent across all skills within studies, and one study found no generalisation despite evidence for initial target learning within the intervention context. In general, there are few methodologically sound social communication intervention studies exploring generalisation in autism and no consensus on how it should be measured. In particular, failure to demonstrate initial learning of target skills within the intervention setting and an absence of formal mediation analyses of the hypothesised mechanisms limit current research. We outline a framework within which measurement of generalisation can be considered for use in future trials. To maximise the effectiveness of interventions, the field needs to gain a better understanding of the nature of generalisation among autistic individuals and what additional strategies may further enhance learning. Autism Res 2019, 00 : 1-17. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : It is generally considered that autistic individuals experience difficulties applying things they have learned in one context into different settings (e.g. from school to home). This is important to consider for intervention studies. Our review does not support a complete lack of generalisation but instead suggests that after early social communication intervention, autistic children can transfer some skills to new contexts. Overall, there is limited research in this area and further work is needed.

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5. Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet ;2020 (Jan 15)

Autism spectrum disorders are associated with some degree of developmental regression in up to 30% of all cases. Rarely, however, is the regression so extreme that a developmentally advanced young child would lose almost all ability to communicate and interact with her surroundings. We applied trio whole exome sequencing to a young woman who experienced extreme developmental regression starting at 2.5 years of age and identified compound heterozygous nonsense mutations in TMPRSS9, which encodes for polyserase-1, a transmembrane serine protease of poorly understood physiological function. Using semiquantitative polymerase chain reaction, we showed that Tmprss9 is expressed in various mouse tissues, including the brain. To study the consequences of TMPRSS9 loss of function on the mammalian brain, we generated a knockout mouse model. Through a battery of behavioral assays, we found that Tmprss9-/- mice showed decreased social interest and social recognition. We observed a borderline recognition memory deficit by novel object recognition in aged Tmprss9-/- female mice, but not in aged Tmprss9-/- male mice or younger adult Tmprss9-/- mice in both sexes. This study provides evidence to suggest that loss of function variants in TMPRSS9 are related to an autism spectrum disorder. However, the identification of more individuals with similar phenotypes and TMPRSS9 loss of function variants is required to establish a robust gene-disease relationship.

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6. Chen WJ, Zhao S, Huang TY, Kwok OM, Chen LS. Autism Spectrum Disorders : Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children. Int J Environ Res Public Health ;2020 (Jan 11) ;17(2)

With the rapid growing rate of autism spectrum disorders (ASDs), prenatal genetic testing (PGT) has been offered to detect various genomic disorders, including ASD, in Taiwan. However, disparities exist in this area, as there is limited research on factors associated with PGT utilization and relevant decision-making that may guide the regulations and ethical guidelines for culturally appropriate PGT services in Taiwan. This study proposed a comprehensively integrated theoretical framework for examining the intention to undergo PGT to detect ASD susceptibility genes and subsequent abortion decision-making among Taiwanese mothers of children affected by ASD. Survey data from 333 mothers of children with ASD in 236 elementary schools with special education services in Taiwan were collected and analyzed using structural equation modeling. Approximately two-thirds of the participants (66.6%) would undergo PGT to detect ASD susceptibility genes ; more than half (53.1%) would terminate the hypothetically ASD-affected pregnancy. Abortion intention was associated with age, religion, attitudes toward PGT for detecting ASD susceptibility genes, and willingness to undergo such PGT. This study explores the potential impacts of PGT on Taiwanese society, and the findings are applicable to countries heavily influenced by Chinese culture, areas with Asian immigrants, and Western countries with such PGT services and/or research available.

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7. El-Ansary A, Hassan WM, Daghestani M, Al-Ayadhi L, Ben Bacha A. Preliminary evaluation of a novel nine-biomarker profile for the prediction of autism spectrum disorder. PLoS One ;2020 ;15(1):e0227626.

BACKGROUND : Autism spectrum disorder (ASD) is a complex group of heterogeneous neurodevelopmental disorders the prevalence of which has been in the rise in the past decade. In an attempt to better target the basic causes of ASD for diagnosis and treatment, efforts to identify reliable biomarkers related to the body’s metabolism are increasing. Despite an increase in identifying biomarkers in ASD, there are none so far with enough evidence to be used in routine clinical examination, unless medical illness is suspected. Promising biomarkers include those of mitochondrial dysfunction, oxidative stress, energy metabolism, and apoptosis. METHODS AND PARTICIPANTS : Sodium (Na+), Potassium (K+), glutathione (GSH), glutathione-s-transferase (GST), Creatine kinase (CK), lactate dehydrogenase (LDH), Coenzyme Q10, and melatonin (MLTN) were evaluated in 13 participants with ASD and 24 age-matched healthy controls. Additionally, five ratios, which include Na+/K+, GSH:GST, CK:Cas7, CoQ10 : Cas 7, and Cas7:MLTN, were tested to measure their predictive values in discriminating between autistic individuals and controls. These markers, either in absolute values, as five ratios, or combined (9 markers + 5 ratios) were subjected to a principal component analysis and multidimensional scaling (MDS), and hierarchical clustering, which are helpful statistical tools in the field of biomarkers. RESULTS : Our data demonstrated that both PCA and MDS analysis were effective in separating autistic from control subjects completely. This was also confirmed through the use of hierarchical clustering, which showed complete separation of the autistic and control groups based on nine biomarkers, five biomarker ratios, or a combined profile. Excellent predictive value of the measured profile was obtained using the receiver operating characteristics analysis, which showed an area under the curve of 1. CONCLUSION : The availability of an improved predictive profile, represented by nine biomarkers plus the five ratios, inter-related different etiological mechanisms in ASD and would be valuable in providing greater recognition of the altered biological pathways in ASD. Our predictive profile could be used for the diagnosis and intervention of ASD.

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8. Garcia JM, Leahy N, Rivera P, Brazendale K, Rice DJ. The association among demographic factors, health behaviors and sleep quality in youth with Autism Spectrum Disorder. Disabil Health J ;2019 (Dec 20):100885.

BACKGROUND : A majority of youth with Autism Spectrum Disorder (ASD) have disrupted sleep patterns, but there has been limited research examining factors associated with sleep in this population. OBJECTIVE : The objective of this study was to compare demographic and lifestyle behaviors with sleep quality in youth with ASD. METHODS : A total of 49 children (12.44 years ; 78% male) with ASD wore the Actigraph GT9X accelerometer over seven days and nights to assess moderate to vigorous physical activity (MVPA), sedentary behavior (SB), total sleep duration, and sleep efficiency. Parents reported their child’s weekly amount of screen time and demographic information. Participants were classified according to whether they met sleep criteria for duration and efficiency (8-9 h of sleep duration and >/=85% sleep efficiency). T-tests and ANOVA were used to compare demographic and lifestyle factors between the groups. RESULTS : Participants who meet both sleep duration and efficiency criteria had greater minutes of MVPA per day (113.65 min/day) than participants who only met sleep efficiency criteria (40.27 min/day) and participants who did not meet either sleep criteria (67.5 min/day ; p < 0.0001). Additionally, participants who met both sleep criteria had fewer minutes of SB compared to those who only met sleep efficiency criteria (384.79 vs 526.05 min/day ; p = 0.02). CONCLUSIONS : Youth who had indicators of good sleep quality had greater amounts of MVPA and lower amounts of SB. Studies should further examine the relationship between sleep and health behaviors in youth with ASD to determine causal mechanisms, leading to more effective sleep interventions.

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9. Geurts HM, Pol SE, Lobbestael J, Simons CJP. Executive Functioning in 60+ Autistic Males : The Discrepancy Between Experienced Challenges and Cognitive Performance. J Autism Dev Disord ;2020 (Jan 17)

As executive functioning (EF) is especially sensitive to age-related cognitive decline, EF was evaluated by using a multi-method assessment. Fifty males (60-85 years) with a late adulthood autism spectrum condition (ASC) diagnosis and 51 non-ASC males (60-83 years) were compared on cognitive tests across EF domains (cognitive flexibility, planning, processing speed, and working memory) and a self- and proxy report of the Behavior Rating Inventory of Executive Function-Adult Version. While no objective performance differences emerged, autistic males and their proxies did report more EF challenges than non-ASC males on the subjective measure. In order to know how to support the older autistic men who received their ASC diagnosis in late adulthood with their daily life EF challenges, it is important to understand what underlies these subjective EF problems.

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10. Gwynette MF, Lowe DW, Henneberry EA, Sahlem GL, Wiley MG, Alsarraf H, Russo SB, Joseph JE, Summers PM, Lohnes L, George MS. Treatment of Adults with Autism and Major Depressive Disorder Using Transcranial Magnetic Stimulation : An Open Label Pilot Study. Autism Res ;2020 (Jan 15)

Patients with autism spectrum disorder (ASD) are at high risk for comorbid major depressive disorder (MDD), which can severely impair functioning and quality of life. Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive brain stimulation technique, which is Food and Drug Administration (FDA) cleared for the treatment of MDD in adults. Despite demonstrated efficacy in the treatment of depression, there are limited data on the use of rTMS in patients with ASD and comorbid MDD. We hypothesized that a standard rTMS protocol for MDD would reduce depressive symptoms for adults with ASD and MDD. Secondarily, we investigated whether this treatment would also reduce core ASD symptoms. Participants of 18-65 years old with ASD and MDD without any medication changes in the last month were eligible for this open-label trial. Participants underwent 25 sessions of rTMS (figure-of-eight coil, 100-120% resting motor threshold, 10 Hz, 3,000 pulses per session) applied to the left dorsolateral prefrontal cortex. Thirteen participants enrolled in the study, with two withdrawing due to tolerability, and one excluded from analysis. Overall, side effects were mild and rTMS was well tolerated. The Hamilton rating scale for depression (HAM-D17 ) improved 13.5 points (IQR 5-15), and 40% of participants achieved remission (HAM-D17 </= 7) after rTMS treatment. Informant clinical scales of core symptoms of autism also suggested improvement with rTMS, though no change was observed by the participants themselves. Thus, this open-label trial suggests that high-frequency rTMS is well tolerated by adults with autism and MDD, with improvement in depressive symptoms and possible effects on core autism symptoms. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study evaluated the safety and effects of repetitive transcranial magnetic stimulation (rTMS) on depression and autism symptoms in individuals with both major depressive disorder and autism spectrum disorder. rTMS was well tolerated by the participants, depression improved with treatment, and family members’ assessment of autism symptoms improved as well. This study supports the need for further work to evaluate rTMS in individuals who have both autism and depression.

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11. Hiraide T, Watanabe S, Matsubayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H. A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Mol Genet Genomic Med ;2020 (Jan 17):e1145.

BACKGROUND : TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the association between TOP2B variants and NDDs remains uncertain. METHODS : Trio-based whole-exome sequencing was performed on a 7-year-old girl, presenting muscle hypotonia, stereotypic hand movements, epilepsy, global developmental delay, and autism spectrum disorder. Brain magnetic resonance images were normal. She was unable to walk independently and spoke no meaningful words. RESULTS : We found a de novo variant in TOP2B (NM_001330700.1:c.187C>T, p.(His63Tyr)), which is identical to the previous case. The clinical features of the two individuals with the c.187C>T variant overlapped. CONCLUSION : Our study supports the finding that TOP2B variants may cause NDDs.

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12. Khalili Alashti S, Fallahi J, Mohammadi S, Dehghanian F, Farbood Z, Masoudi M, Poorang S, Jokar A, Fardaei M. Two novel mutations in the MECP2 gene in patients with Rett syndrome. Gene ;2020 (Jan 17):144337.

Rett syndrome (RTT) is an X-linked severe neurological disorder. Mutations in Methyl-CpG-Binding Protein2 (MECP2) gene are the main cause of RTT disease. In this study, we report the results of screening the MECP2 gene for mutations in 7 Iranian patients with RTT syndrome. MECP2 sequencing identified two novel mutations in the heterozygous state, a splice mutation, c.354G>T, p.Gly119Gly, resulting in a premature splice-donor site and a 20-bp deletion, c.1167-1186del20 (p.P390Rfs), leading to modifying the c-terminal parts of the protein and it also changes the reading frames of all coding sequence downstream of the mutation. Multiple sequence alignment showed that amino acid changes occurred in the well conserved protein regions across species. Based on the results of this study and literature reviews, about 70% of mutations are found in exon 3 and 4 of the MECP2 gene, and mutations in exon 4 are more common than other exons. Therefore, it is recommended that exon 4 to be a priority for screening the genetic analysis of RTT patients.

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13. Rucker R, Barlow PB, Bertolini Fernandes Dos Santos M, Carrera Malhao E, Kossioni A, Marchini L. Translation and preliminary validation of an ageism scale for dental students in Brazil (ASDS-Braz). Gerodontology ;2020 (Jan 15)

BACKGROUND AND OBJECTIVE : Ageism is a major barrier for age-appropriate care. The aim of this study was to translate and perform a preliminary validation of an ageism scale for dental students (ASDS) in Brazil (ASDS-Braz). METHODS : The 27-item original ageism scale was translated from English into Brazilian Portuguese. A panel of five Brazilian dental educators revised the scale to establish content validity. The translated version was completed by 156 dental students in the Federal University of Pelotas in Brazil. Principal component analysis, internal consistency reliability and discriminant validity were estimated. RESULTS : All items in the Brazilian Portuguese version received a content validity index score >/=0.80 indicating that they were relevant to the topic. The principal component analysis produced a 12-item scale with three components that accounted for 51% of the overall variance. The first component contained six items associated with a negative view of older adults ; the second component contained three items dealing with the complexity of providing care for older adults ; and the third component contained three items associated with a positive view of older people. Discriminant validity did not show any differences related to demographic factors, the semester of studies and history of living with older people. CONCLUSIONS : The preliminary validation of the ASDS-Braz produced a 12-item scale with three components with acceptable validity and reliability. Future research in a larger, multi-institutional sample is now warranted.

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14. Schnider P, Bissantz C, Bruns A, Dolente C, Goetschi E, Jakob-Roetne R, Kunnecke B, Mueggler T, Muster W, Parrott N, Pinard E, Ratni H, Risterucci C, Rogers-Evans M, von Kienlin M, Grundschober C. Discovery of Balovaptan, a Vasopressin 1a Receptor Antagonist for the Treatment of Autism Spectrum Disorder. J Med Chem ;2020 (Jan 17)

We recently reported the discovery of a potent, selective, and brain-penetrant V1a receptor antagonist, which was not suitable for full development. Nevertheless, this compound was found to improve surrogates of social behavior in adults with autism spectrum disorder in an exploratory proof-of-mechanism study. Here we describe scaffold hopping that gave rise to triazolobenzodiazepines with improved pharmacokinetic properties. The key to balancing potency and selectivity while minimizing P-gp mediated efflux was fine-tuning of hydrogen bond acceptor basicity. Ascertaining a V1a antagonist specific brain activity pattern by pharmacological magnetic resonance imaging in the rat played a seminal role in guiding optimization efforts, culminating in the discovery of balovaptan (RG7314, RO5285119) 1. In a 12-week clinical phase 2 study in adults with autism spectrum disorder balovaptan demonstrated improvements in Vineland-II Adaptive Behavior Scales, a secondary end point comprising communication, socialization, and daily living skills. Balovaptan entered phase 3 clinical development in August 2018.

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15. Takahashi S, Takeguchi R, Kuroda M, Tanaka R. Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant. Mol Genet Genomic Med ;2020 (Jan 13):e1122.

BACKGROUND : Rett syndrome (RTT) is a neurodevelopmental disorder that predominantly affects girls, resulting from a loss-of-function variant in X-linked MECP2. Here, we report a rare case of a girl with RTT with an X chromosome mosaic karyotype (46,XX/47,XXX). METHODS : Fluorescent in situ hybridization (FISH) was carried out to confirm the mosaic karyotype. Sanger sequencing was carried out to genetically diagnose RTT. Furthermore, we assessed the X chromosome inactivation (XCI) pattern. MECP2 expression levels were examined via RT-PCR. RESULTS : The patient presented with preserved speech variant, the milder form of RTT. Genetic examination revealed a de novo, heterozygous, truncating variant of MECP2. FISH revealed mosaicism in the 47,XXX karyotype in 6% of her cells. The XCI assay revealed unbalanced inactivation with skewing in favor of the paternal X chromosome. MECP2 was downregulated to only 84% of the control, indicating that the patient’s variant was probably of paternal origin. Unbalanced XCI in this patient might have contributed to the alleviation of the phenotype. However, her supernumerary X chromosome was derived from maternal X chromosome harboring the wild-type allele and might have had no preferential effect on her RTT-related phenotype. CONCLUSION : The present results indicate that phenotypic effects of X chromosome aneuploidy depend on the nature of the supernumerary X chromosome, the pattern of mosaicism, and XCI status.

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16. Torres EB, Rai R, Mistry S, Gupta B. Hidden Aspects of the Research ADOS Are Bound to Affect Autism Science. Neural Comput ;2020 (Jan 17):1-47.

The research-grade Autism Diagnostic Observational Schedule (ADOS) is a broadly used instrument that informs and steers much of the science of autism. Despite its broad use, little is known about the empirical variability inherently present in the scores of the ADOS scale or their appropriateness to define change and its rate, to repeatedly use this test to characterize neurodevelopmental trajectories. Here we examine the empirical distributions of research-grade ADOS scores from 1324 records in a cross-section of the population comprising participants with autism between five and 65 years of age. We find that these empirical distributions violate the theoretical requirements of normality and homogeneous variance, essential for independence between bias and sensitivity. Further, we assess a subset of 52 typical controls versus those with autism and find a lack of proper elements to characterize neurodevelopmental trajectories in a coping nervous system changing at nonuniform, nonlinear rates. Repeating the assessments over four visits in a subset of the participants with autism for whom verbal criteria retained the same appropriate ADOS modules over the time span of the four visits reveals that switching the clinician changes the cutoff scores and consequently influences the diagnosis, despite maintaining fidelity in the same test’s modules, room conditions, and tasks’ fluidity per visit. Given the changes in probability distribution shape and dispersion of these ADOS scores, the lack of appropriate metric spaces to define similarity measures to characterize change and the impact that these elements have on sensitivity-bias codependencies and on longitudinal tracking of autism, we invite a discussion on readjusting the use of this test for scientific purposes.

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17. Webster PJ, Frum C, Kurowski-Burt A, Bauer CE, Wen S, Ramadan JH, Baker KA, Lewis JW. Processing of Real-World, Dynamic Natural Stimuli in Autism is Linked to Corticobasal Function. Autism Res ;2020 (Jan 16)

Many individuals with autism spectrum disorder (ASD) have been shown to perceive everyday sensory information differently compared to peers without autism. Research examining these sensory differences has primarily utilized nonnatural stimuli or natural stimuli using static photos with few having utilized dynamic, real-world nonverbal stimuli. Therefore, in this study, we used functional magnetic resonance imaging to characterize brain activation of individuals with high-functioning autism when viewing and listening to a video of a real-world scene (a person bouncing a ball) and anticipating the bounce. We investigated both multisensory and unisensory processing and hypothesized that individuals with ASD would show differential activation in (a) primary auditory and visual sensory cortical and association areas, and in (b) cortical and subcortical regions where auditory and visual information is integrated (e.g. temporal-parietal junction, pulvinar, superior colliculus). Contrary to our hypotheses, the whole-brain analysis revealed similar activation between the groups in these brain regions. However, compared to controls the ASD group showed significant hypoactivation in the left intraparietal sulcus and left putamen/globus pallidus. We theorize that this hypoactivation reflected underconnectivity for mediating spatiotemporal processing of the visual biological motion stimuli with the task demands of anticipating the timing of the bounce event. The paradigm thus may have tapped into a specific left-lateralized aberrant corticobasal circuit or loop involved in initiating or inhibiting motor responses. This was consistent with a dual "when versus where" psychophysical model of corticobasal function, which may reflect core differences in sensory processing of real-world, nonverbal natural stimuli in ASD. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : To understand how individuals with autism perceive the real-world, using magnetic resonance imaging we examined brain activation in individuals with autism while watching a video of someone bouncing a basketball. Those with autism had similar activation to controls in auditory and visual sensory brain regions, but less activation in an area that processes information about body movements and in a region involved in modulating movements. These areas are important for understanding the actions of others and developing social skills.

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18. Westmark PR, Gutierrez A, Gholston AK, Wilmer TM, Westmark CJ. Preclinical testing of the ketogenic diet in fragile X mice. Neurochem Int ;2020 (Jan 17):104687.

The ketogenic diet is highly effective at attenuating seizures in refractory epilepsy and accumulating evidence in the literature suggests that it may be beneficial in autism. To our knowledge, no one has studied the ketogenic diet in any fragile X syndrome (FXS) model. FXS is the leading known genetic cause of autism. Herein, we tested the effects of chronic ketogenic diet treatment on seizures, body weight, ketone and glucose levels, diurnal activity levels, learning and memory, and anxiety behaviors in Fmr1(KO) and littermate control mice as a function of age. The ketogenic diet selectively attenuates seizures in male but not female Fmr1(KO) mice and differentially affects weight gain and diurnal activity levels dependent on Fmr1 genotype, sex and age.

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