Pubmed du 07/09/21
1. Cardy RE, Dupuis A, Anagnostou E, Ziolkowski J, Biddiss EA, Monga S, Brian J, Penner M, Kushki A. Characterizing Changes in Screen Time During the COVID-19 Pandemic School Closures in Canada and Its Perceived Impact on Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 702774.
The COVID-19 pandemic has led to an increase in screen time for children and families. Traditionally, screen time has been associated with negative physical and mental health outcomes, and children with autism spectrum disorder (ASD) are at increased risk of these outcomes. The primary objectives of this study were to (1) characterize the change in screen time during COVID-19 school closures for children with ASD, and (2) examine the parent perceived impact of screen time on mental health and quality of life of children and their families. Canadian parents and caregivers of children 19 years of age and younger were eligible to participate in an anonymous, online survey study. This survey was available in English, consisted of 28 questions, took ~10-min to complete, and was available for 6 weeks (May 22 through July 6, 2020). The total sample consisted of 414 responses (ASD: n = 127, mean age = 11.7 ± 4.06 years; community sample: n = 287, mean age = 9.4 ± 4.26 years). Seventy-one respondents were missing responses to our primary question and removed from the analyses (final sample n = 344). Compared to the community sample, the ASD group had a significantly higher screen time use before and during the COVID-19 pandemic school closures [weekdays: difference = 1.14 (SE = 0.18), t = 6.56, p < 0.0001; weekends: difference = 1.41 (SE = 0.20), t = 6.93, p < 0.0001]. Mean total screen time during the pandemic was 6.9 h (95% CI 6.49, 7.21) on weekdays and 6.3 h (95% CI 5.91, 6.63) on weekends for the ASD group, and 5.6 h (95% CI 5.28, 5.92) on weekdays and 5.0 h (95% CI 4.70, 5.34) on weekends for the community sample. There was a significant increase in screen time during the COVID-19 pandemic as compared to before the pandemic period in the ASD group [weekdays: mean difference = 3.8 h (95% CI 3.35-4.25), p < 0.0001; weekends: mean difference = 1.5 h (95% CI 1.17-1.92), p < 0.0001]. Gender was a significant predictor of parent perceived mental health and quality of life, with male gender associated with a higher likelihood of negative impact [quality of life (child/family) OR = 1.8 (95% CI 1.1-2.9), corrected p = 0.040; mental health OR = 1.9 (95% CI 1.1-3.1), corrected p = 0.0028]. Parents' most frequently endorsed emotions toward screen time were guilt, frustration, and worry. Results of this survey study revealed that children with ASD were less likely to benefit from screen time to cope with social isolation, and screen time resulted in significantly more lost time on social interactions than the community sample, which may exacerbate difficulties in social domains. Given the unprecedented circumstances of the COVID-19 pandemic and the novel context of technology use, the findings of this study highlight the need for revision of screen time recommendations to reflect the current needs of children and families.
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2. Courchesne V, Tesfaye R, Mirenda P, Nicholas D, Mitchell W, Singh I, Zwaigenbaum L, Elsabbagh M. Autism Voices: A novel method to access first-person perspective of autistic youth. Autism : the international journal of research and practice. 2021: 13623613211042128.
The perspective of autistic individuals is often left uncaptured, and as a result they are often excluded from making decisions that impact them. Conventional communication can be challenging for many autistic individuals, especially those who are minimally verbal or who have an associated intellectual disability. Currently, a lack of appropriate methods to capture voices across the spectrum is a barrier. In the present study, we developed the Autism Voices protocol using universal design principles to capture the perspectives and experiences of autistic youth with a range of language or intellectual abilities. This protocol was then used with 33 autistic youth aged 11 to 18 years. A scoring rubric was developed to capture the unconventional communication used by the participants and the mitigation strategies used by interviewers to facilitate the interview. Many components of the protocol were found to effectively facilitate communication between the participant and interviewer, including the use of picture cards to support verbal questions/prompts, the fact that participants could respond with their preferred communication methods (writing, texting, pointing), and the fact that interviews were applied flexibly to adapt to each participant. Unconventional communication and mitigation strategies were mostly observed in interviews with minimally verbal individuals, but a fine-grained analysis showed participants were still communicating something through this unconventional communication. Our protocol could help promote the inclusion of more autistic individuals in research and showed that unconventional modes of communication like echolalia provide an understanding that participants’ are invested in conversations and certain topics are more meaningful than others.
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3. Dababnah S, Kim I, Wang Y, Reyes C. Brief Report: Impact of the COVID-19 Pandemic on Asian American Families with Children with Developmental Disabilities. Journal of developmental and physical disabilities. 2021: 1-14.
Discrimination against Asians and Asian Americans increased during the COVID-19 pandemic. Yet, even prior to the pandemic, little research explored the experiences of Asian American families of children with autism and other developmental disabilities. This brief report summarizes the results of a survey conducted between May and July 2020, in the immediate aftermath of state and local lockdowns due to the pandemic. Twenty-five Asian American caregivers of children with autism and other developmental disabilities completed the survey and reported on the pandemic’s impact on their household. Most of the caregivers were mothers, immigrants, Chinese, raising children with autism, and highly educated. Participants’ primary concerns were the disruption of their children’s educational and therapeutic services. We discuss research limitations and implications.
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4. Defresne P, Mottron L. Clinical Situations in Which the Diagnosis of Autism is Debatable: An Analysis and Recommendations. Canadian journal of psychiatry Revue canadienne de psychiatrie. 2022; 67(5): 331-5.
The « autism spectrum disorder » (ASD) construct and its current diagnostic criteria have led to the inclusion of increasingly heterogeneous and decreasingly atypical individuals under its definition. This broad category, based on the polymorphic clinical expression of common genetic variants underpinning the risk of autism, is likely beneficial for certain individuals. However, determining the boundaries between ASD and typical individuals, as well as those with other neurodevelopmental conditions, remains an issue of which the importance is growing with the increase in ASD prevalence. We identified four clinical contexts associated with a questionable, poorly justified, or unhelpful ASD diagnosis: (1) those in which diagnostic instruments raise uncertainties, (2) in the context of a subclinical presentation, (3) when early autistic signs tend to fade away during development, and (4) when comorbidities are prominent. We argue that in certain cases, a diagnosis of ASD may not be the most suitable, timely, or helpful medical act and provide recommendations for clinical practice when facing such situations. Publisher: Abstract available from the publisher. fre.
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5. Georgiou K, Winter D, Davies S, Katsiana A. « But Who Knows What Autism Is? » Negotiating the Notion of Autism During Free Associative Narrative Interviews with Psychoanalytic Psychotherapists. Materia socio-medica. 2021; 33(2): 138-44.
BACKGROUND: Critically informed discursive research has rarely been used to capture the way psychoanalytic psychotherapists organize their talk with regards to Autism Spectrum Disorders (ASD). OBJECTIVE: To understand the language about autism in psychoanalytic talk in terms of i) interpretive repertoires, ii) subject positions and iii) autistic ways of being that circulate inside psychoanalysts’ discourses. METHODS: This paper presents the data and findings of a critical discursive psychological research which analyzed the talk of eight experienced psychoanalysts. As part of a wider research project this study strived to provide an understanding of the way autism was deployed in free associative narrative interviews. RESULTS: Focusing on the micro and the macro level of discourse, the analysis of the data pointed to a rather dilemmatic framework mobilizing therapeutic talk. This framework was organised around a quadrant of interpretive repertoires, which on the one hand fought against the traditional medicalized discourses about autism, while on the other repositioned autism in the same subordinate positions crafted by biomedical regimes. CONCLUSION: A need for breaking from this rather malleable discursive ecosystem is advocated in order to give life to a more democratic let alone emancipating clinical and political environment.
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6. Gray J, Bazargan-Hejazi S, Ebrahim G, Cho D. Severe OCD Exacerbation in a Patient with Autism Spectrum Disorder: A Case Report. Archives of clinical and medical case reports. 2021; 5(3): 388-92.
Autism Spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and social interaction, repetitive and stereotyped behaviors, and/or sensory aberrations. On the other hand, obsessive-compulsive disorder (OCD) is characterized by the presence of obsessions and/or compulsions. In consideration of these distinct pathologies, research suggests that anxiety disorders and OCD are highly prevalent in individuals with ASD. This case report will discuss an adolescent patient with ASD and OCD who experiences an exacerbation, most notably, in his symptoms of OCD. We outline the hospital course of a 13 year-old male who ultimately requires nasogastric (NG) tube feeding resulting from an acute worsening in symptoms and refusal of oral intake during the COVID-19 pandemic. The patient demonstrated significant improvement in symptoms following the administration of high-dose selective serotonin reuptake inhibitor (SSRI) and low-dose antipsychotic therapy.
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7. Ha EK, Lee SW, Kim JH, Shim S, Kim YH, Song JY, Koh HY, Shin YH, Han MY. Neurodevelopmental Outcomes in Infants Fed with Soy Formula: A Retrospective, National Population-Based Observational Cohort Study. The Journal of nutrition. 2021; 151(10): 3045-52.
BACKGROUND: Soy-based infant formulas are increasingly popular, but data regarding their effects on neurodevelopmental outcomes during early childhood is scanty. OBJECTIVE: This study investigated the effect of consuming soy-based infant formula at 9-12 mo after birth on the subsequent development of epilepsy, neurodevelopmental disorders, and developmental status. METHODS: This nationwide retrospective administrative study used health screening examinations and linked insurance claims data of children born in Korea during 2008 and 2009. Infants who received soy formula were compared with those who received cow’s milk formula using propensity score matching that considered birth history, economic status, clinical conditions, and drug prescription records. Exposure was defined as soy formula feeding determined from questionnaires completed by the parents when children were 9-12 mo old. Outcomes were epilepsy, attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental status. Children were followed until 31 December, 2017. RESULTS: A total of 153,841 eligible participants were enrolled; 11,535 (7.5%) children received soy formula, while 142,864 (92.5%) received cow’s milk formula. The incidence rate of epilepsy during the follow-up period was 29.8 per 100,000 person-years (95% CI: 19.48, 41.65) in the soy formula group and 22.6 per 100,000 person-years (95% CI: 31.97, 59.07) in the cow’s milk formula group, with no significant difference (aHR: 1.318; 95% CI: 0.825, 2.106). The 2 groups also had no difference based on prespecified analysis using different definitions of epilepsy. Likewise, no significant associations of soy formula with ADHD (aHR: 1.26; 95% CI: 1.00, 1.60) or ASD (aHR: 0.99; 95% CI: 0.54, 1.83), or delays of developmental stages were observed. CONCLUSIONS: Feeding with soy formula rather than cow’s milk formula had no apparent association with increased risks of epilepsy, ADHD, ASD, and developmental status, according to this cohort composed of a general pediatric population.
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8. Hampton S, Man J, Allison C, Aydin E, Baron-Cohen S, Holt R. A qualitative exploration of autistic mothers’ experiences II: Childbirth and postnatal experiences. Autism : the international journal of research and practice. 2021: 13623613211043701.
Very little research has looked at how autistic people experience childbirth and the first few months of parenthood. We interviewed 21 autistic and 25 non-autistic women 2-3 months after their baby was born, to find out how they experienced giving birth and being a parent. Some autistic participants found sensory aspects of giving birth difficult, such as noise and being touched. They also wanted healthcare professionals to give them clear information while giving birth. Participants sometimes thought that healthcare professionals did not know enough about autism. Autistic and non-autistic participants both found parenthood difficult at times and autistic parents sometimes had extra difficulties, such as with planning and organising. Autistic participants also felt good at understanding their baby’s needs. This research suggests that autistic people would benefit from changes to childbirth and postnatal healthcare such as being communicated with more clearly. It also indicates that healthcare professionals should receive more training about autism.
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9. Hooper AWM, Wong H, Niibori Y, Abdoli R, Karumuthil-Melethil S, Qiao C, Danos O, Bruder JT, Hampson DR. Gene therapy using an ortholog of human fragile X mental retardation protein partially rescues behavioral abnormalities and EEG activity. Molecular therapy Methods & clinical development. 2021; 22: 196-209.
Fragile X syndrome (FXS), a neurodevelopmental disorder with no known cure, is caused by a lack of expression of the fragile X mental retardation protein (FMRP). As a single-gene disorder, FXS is an excellent candidate for viral-vector-based gene therapy, although that is complicated by the existence of multiple isoforms of FMRP, whose individual cellular functions are unknown. We studied the effects of rat and mouse orthologs of human isoform 17, a major expressed isoform of FMRP. Injection of neonatal Fmr1 knockout rats and mice with adeno-associated viral vectors (AAV9 serotype) under the control of an MeCP2 mini-promoter resulted in widespread distribution of the FMRP transgenes throughout the telencephalon and diencephalon. Transgene expression occurred mainly in non-GABAergic neurons, with little expression in glia. Early postnatal treatment resulted in partial rescue of the Fmr1 KO rat phenotype, including improved social dominance in treated Fmr1 KO females and partial rescue of locomotor activity in males. Electro-encephalogram (EEG) recordings showed correction of abnormal slow-wave activity during the sleep-like state in male Fmr1 KO rats. These findings support the use of AAV-based gene therapy as a treatment for FXS and specifically demonstrate the potential therapeutic benefit of human FMRP isoform 17 orthologs.
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10. Ibrahim K, Soorya LV, Halpern DB, Gorenstein M, Siper PM, Wang AT. Social cognitive skills groups increase medial prefrontal cortex activity in children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(12): 2495-511.
Few studies have examined the neural mechanisms of change following social skills interventions for children with autism spectrum disorder (ASD). This study examined the neural effects of social cognitive skills groups during functional MRI (fMRI) tasks of irony comprehension and eye gaze processing in school-aged children with ASD. Verbally fluent children (ages 8-11) were randomized to social cognitive skills groups or facilitated play comparison groups. Behavioral assessments and fMRI scans were obtained at baseline and endpoint (12 weeks). During fMRI, children completed two separate tasks to engage social cognition circuitry: comprehension of potentially ironic scenarios (n = 34) and viewing emotionally expressive faces with direct or averted gaze (n = 24). Whole-brain analyses were conducted to examine neural changes following treatment. Regression analyses were also conducted to explore the relationship between neural and behavioral changes. When comparing the two groups directly, the social cognitive skills group showed greater increases in activity in the medial prefrontal cortex (mPFC), implicated in theory of mind, relative to the comparison group for both irony comprehension and gaze processing tasks. Increased mPFC activity during the irony task was associated with improvement in social functioning on the Social Responsiveness Scale across both groups. Findings indicate that social cognitive skills interventions may increase activity in regions associated with social cognition and mentalizing abilities. LAY SUMMARY: Social skills groups are a common intervention for school-aged children with ASD. However, few studies have examined the neural response to social skills groups in school-aged children with ASD. Here, we report on a study evaluating neural outcomes from an empirically supported social cognitive skills training curriculum using fMRI. This study seeks to understand the effects of targeting emotion recognition and theory of mind on the brain circuitry involved in social cognition in verbally fluent children ages 8-11. Results indicate increased neural activity in the mPFC, a region considered to be a central hub of the « social brain, » in children randomized to social cognitive skills groups relative to a comparison group that received a high-quality, child-directed play approach. In addition, increased activation in the mPFC during an irony comprehension task was associated with gains in social functioning across both groups from pre- to post-treatment. This is the first fMRI study of social skills treatment outcomes following a randomized trial with an active treatment condition in school-aged children with ASD.
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11. Ju J, Yang X, Jiang J, Wang D, Zhang Y, Zhao X, Fang X, Liao H, Zheng L, Li S, Hou ST, Liang L, Pan Y, Li H, Li N. Structural and Lipidomic Alterations of Striatal Myelin in 16p11.2 Deletion Mouse Model of Autism Spectrum Disorder. Frontiers in cellular neuroscience. 2021; 15: 718720.
Myelin abnormalities have been observed in autism spectrum disorder (ASD). In this study, we seek to discover myelin-related changes in the striatum, a key brain region responsible for core ASD features, using the 16p11.2 deletion (16p11.2(±)) mouse model of ASD. We found downregulated expression of multiple myelin genes and decreased myelin thickness in the striatum of 16p11.2(±) mice versus wild type controls. Moreover, given that myelin is the main reservoir of brain lipids and that increasing evidence has linked dysregulation of lipid metabolism to ASD, we performed lipidomic analysis and discovered decreased levels of certain species of sphingomyelin, hexosyl ceramide and their common precursor, ceramide, in 16p11.2(±) striatum, all of which are major myelin components. We further identified lack of ceramide synthase 2 as the possible reason behind the decrease in these lipid species. Taken together, our data suggest a role for myelin and myelin lipids in ASD development.
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12. Li S, Xi K, Liu T, Zhang Y, Li J. [Advance of research on Phelan-McDermid syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021; 38(9): 917-20.
Phelan-McDermid syndrome (PMS)(OMIM#606232) is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22q13 involving a variety of clinical features with considerably heterogeneous degrees of severity. This syndrome is characterized by global developmental delay, intellectual disability, hypotonia, absent or severely delayed speech, minor dysmorphic features and autism spectrum disorder. PMS is easy to be misdiagnosed due to the lack of specific clinical manifestations. SHANK3 has been identified as the critical candidate gene for the neurological features of this syndrome. However, some studies have shown that other genes located in the 22q13 region may have a role in the formation of symptoms in individuals with PMS. This article provides a review for recent progress made in research on PMS including etiology, clinical manifestation, diagnosis, and treatment, with a particular emphasis on clinical diagnosis and treatment.
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13. Liu Y, Shen L, Zhang Y, Zhao R, Liu C, Luo S, Chen J, Xia L, Li T, Peng Y, Xia K. Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping. Journal of psychiatric research. 2021; 143: 113-22.
NRXN1 is involved in synaptogenesis and have been implicated in Autism spectrum disorders. However, many rare inherited missense variants of NRXN1 have not been thoroughly evaluated. Here, functional analyses in vitro and in Drosophila of three NRXN1 missense mutations, Y282H, L893V, and I1135V identified in ASD patients in our previous study were performed. Our results showed these three mutations interfered protein degradation compared with NRXN1-WT protein. Expressing human NRXN1 in Drosophila could lead to abnormal circadian rhythm and sleep behavior, and three mutated proteins caused milder phenotypes, indicating the mutations may change the function of NRXN1 slightly. These findings highlight the functional role of rare NRXN1 missense variants identified in autism patients, and provide clues for us to better understand the pathogenesis of abnormal circadian rhythm and sleep behavior of other organisms, including humans.
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14. Marocchini E, Di Paola S, Mazzaggio G, Domaneschi F. Understanding indirect requests for information in high-functioning autism. Cognitive processing. 2022; 23(1): 129-53.
Few works have addressed the processing of indirect requests in High-Functioning Autism (HFA), and results are conflicting. Some studies report HFA individuals’ difficulties in indirect requests comprehension; others suggest that it might be preserved in HFA. Furthermore, the role of Theory of Mind in understanding indirect requests is an open issue. The goal of this work is twofold: first, assessing whether comprehension of indirect requests for information is preserved in HFA; second, exploring whether mind-reading skills predict this ability. We tested a group of (n = 14; 9-12 years) HFA children and two groups of younger (n = 19; 5-6 years) and older (n = 28; 9-12 years) typically developing (TD) children in a semi-structured task involving direct, indirect and highly indirect requests for information. Results suggested that HFA can understand indirect and highly indirect requests, as well as TD children. Yet, while Theory of Mind skills seem to enhance older TD children understanding, this is not the case for HFA children. Therefore, interestingly, they could rely on different interpretative strategies.
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15. Mayes SD, Kallus R, Bangert LR, Fosco W, Calhoun SL, Waschbusch DA. Relationship between sluggish cognitive tempo, IQ and academic achievement test scores, and academic impairment in autism, ADHD, and elementary school samples. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 2022; 28(2): 244-65.
Sluggish cognitive tempo (SCT) is of renewed interest. The relationship between SCT, IQ and achievement scores, and academic impairment ratings was investigated in 218 students with autism and 676 with ADHD (6-16 years) and 549 elementary school students (IQ ≥ 80). Mothers rated their children on the Pediatric Behavior Scale. Children in the autism/ADHD sample were also rated by teachers. Correlations between SCT and IQ and achievement scores (Verbal Comprehension, Perceptual Reasoning, Working Memory, Processing Speed, reading, math, and written expression) were all negative and were nonsignificant in the total autism/ADHD and elementary school samples, except for small correlations with Processing Speed and a timed math test. In contrast, mother and teacher SCT ratings were significantly related to mother and teacher academic and cognitive impairment ratings. SCT was not a significant predictor of achievement scores or academic impairment ratings in regression analysis. The strongest predictor of achievement test scores was IQ, and the strongest predictors of academic impairment were mother and teacher cognitive impairment ratings. Teacher inattention ratings predicted teacher academic impairment ratings in autism/ADHD and mother inattention ratings predicted mother academic impairment ratings in elementary school children. Therefore, inattention was more predictive of academic functioning than was SCT. Research shows a weak link between SCT and processing speed (contrary to what is implied by the term sluggish cognitive tempo), and other neuropsychological test scores are not consistently associated with SCT. It remains to be determined if neuropsychological tests can be developed to measure and further our understanding of SCT.
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16. Sanlier N, Kocabas Ş. The effect of probiotic, prebiotic and gut microbiota on ASD: A review and future perspectives. Critical reviews in food science and nutrition. 2021: 1-12.
Autism spectrum disorder is a serious neurodevelopmental disease that affects social communication and behavior, characterized by an increasingly common immune mechanism and various complications in the gastrointestinal system. Symptoms of autism can generally vary according to the genetic background of the individuals, the environment in which they live. The microbiota of individuals with autism is also different from healthy individuals. Recently, probiotics, prebiotic, fecal microbiota transplantation, diet therapy, etc. options have come to the fore. Cofactors are even more important at this stage. Since it is related to the gut microbiota, immune mechanism, gastrointestinal system, attention has been drawn to the relationship between dysbiosis, autism in the intestine. The component of the gut microbiota in individuals with autism has been linked with gastrointestinal symptoms that develop with autism severity. However, the role of the microbiota in diagnosis, follow-up, treatment is not clear yet, and its two-way relationship with the nervous system makes it difficult to establish a cause-effect relationship. Nutritional cofactors required in neurotransmitter synthesis and enzyme activation must be regularly and adequately taken to maximize brain functions in autistic individuals. Therefore, this study was conducted to investigate the cause-effect relationship of ASD with microbiota and brain-gut axis, probiotic-prebiotic use.
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17. Suarez VD, Najdowski AC, Tarbox J, Moon E, St Clair M, Farag P. Teaching Individuals with Autism Problem-Solving Skills for Resolving Social Conflicts. Behavior analysis in practice. 2021: 1-14.
Resolving social conflicts is a complex skill that involves consideration of the group when selecting conflict solutions. Individuals with autism spectrum disorder (ASD) often have difficulty resolving social conflicts, yet this skill is important for successful social interaction, maintenance of relationships, and functional integration into society. This study used a nonconcurrent multiple baseline across participants design to assess the efficacy of a problem-solving training and generalization of problem solving to naturally occurring untrained social conflicts. Three male participants with ASD were taught to use a worksheet as a problem-solving tool using multiple exemplar training, error correction, rules, and reinforcement. The results showed that using the worksheet was successful in bringing about a solution to social conflicts occurring in the natural environment. In addition, the results showed that participants resolved untrained social conflicts in the absence of the worksheet during natural environment probe sessions.
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18. Zafar U, Habib H. The Link Between Autism Spectrum Disorder And Gastrointestinal Microbiota. Journal of Ayub Medical College, Abbottabad : JAMC. 2021; 33(3): 513-8.
BACKGROUND: In recent times multiple attempts have been made to search for the link between Autism Spectrum Disorder (ASD) and gut microbiota. This link is not a myth as the microbiota composition and in turn its bi-products affect not only the Gut-Brain axis but also the hypothalamic-pituitary-adrenal (HPA) axis and the immune response. Aim of the study was to find the relation between the Gut Microbiota and the pathophysiology and in turn manifestations of ASD. METHODS: Eight original articles were identified by a systematic search of the MEDLINE database. Those articles were included in the review with clear mention of ASD and microbiota in titles and abstracts. RESULTS: In the majority of studies, Bacteroidetes/ Firmicutes ratio was deranged only one reported it to be normal. Bacteria such as Actinomyces and Proteobacteria were increased and Bacteroides, Bifidobacterium, Lactobacillus, and Prevotella were decreased. The commonest method of sequencing observed was 16S rRNA. CONCLUSION: The microbiota composition of the gut does affect the manifestations of autism spectrum disorder. The derangement of the gut commensals may lead to mood disorders, depression, and other symptoms in autistic kids.
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19. Zafarullah M, Durbin-Johnson B, Fourie ES, Hessl DR, Rivera SM, Tassone F. Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. Frontiers in psychiatry. 2021; 12: 691717.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele (55-200 CGG repeats; PM) in the fragile X mental retardation (FMR1) gene. It is currently unknown how the observed brain changes are associated with metabolic signatures in individuals who develop the disorder over time. The primary objective of this study was to investigate the correlation between longitudinal changes in the brain (area of the pons, midbrain, and MCP width) and the changes in the expression level of metabolic biomarkers of early diagnosis and progression of FXTAS in PM who, as part of an ongoing longitudinal study, emerged into two distinct categories. These included those who developed symptoms of FXTAS (converters, CON) at subsequent visits and those who did not meet the criteria of diagnosis (non-converters, NCON) and were compared to age-matched healthy controls (HC). We assessed CGG repeat allele size by Southern Blot and PCR analysis. Magnetic Resonance Imaging (MRIs) acquisition was obtained on a 3T Siemens Trio scanner and metabolomic profile was obtained by ultra-performance liquid chromatography, accurate mass spectrometer, and an Orbitrap mass analyzer. Our findings indicate that differential metabolite levels are linked with the area of the pons between healthy control and premutation groups. More specifically, we observed a significant association of ceramides and mannonate metabolites with a decreased area of the pons, both at visit 1 (V1) and visit 2 (V2) only in the CON as compared to the NCON group suggesting their potential role in the development of the disorder. In addition, we found a significant correlation of these metabolic signatures with the FXTAS stage at V2 indicating their contribution to the progression and pathogenesis of FXTAS. Interestingly, these metabolites, as part of lipid and sphingolipid lipids pathways, provide evidence of the role that their dysregulation plays in the development of FXTAS and inform us as potential targets for personalized therapeutic development.