Pubmed du 21/12/19

samedi 21 décembre 2019

1. Bean AF, Perez BI, Dynia JM, Kaderavek JN, Justice LM. Book-Reading Engagement in Children with Autism and Language Impairment : Associations with Emergent-Literacy Skills. J Autism Dev Disord ;2019 (Dec 19)

Emergent-literacy skills are frequently taught within social interactions in preschool classrooms such as shared book reading. Children with impaired language and/or social engagement may have difficulty accessing these learning opportunities. Therefore, we sought to investigate the relationship between book-reading orientation during a teacher-led shared book reading activity and emergent-literacy skill development across three groups of preschool children ; autism (n = 22), developmental language disorder (DLD ; n = 23), and typical development (TD ; n = 58). The children with autism demonstrated less book-reading orientation than their DLD and TD peers. Book-reading orientation was a significant predictor of residualized gains in print-concept knowledge and phonological awareness. Thus, book-reading orientation appears to play a critical role in preschooler’s emergent-literacy skill development.

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2. Coelho-Medeiros ME, Bronstein J, Aedo K, Pereira JA, Arrano V, Perez CA, Valenzuela PM, Moore R, Garrido I, Bedregal P. M-CHAT-R/F Validation as a screening tool for early detection in children with autism spectrum disorder. Rev Chil Pediatr ;2019 (Oct) ;90(5):492-499.

INTRODUCTION : Screening for Autism Spectrum Disorders (ASD) using the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F) increases early detection, allowing early interventions and improving prognosis. This tool is part of the management in case of suspected ASD in several clinical guidelines. The objective of this article was to conduct the concurrent and discrimi nant validation and the reliability analysis of M-CHAT-R/F in the Chilean population. PATIENTS AND METHOD : This is the second stage of the cross-cultural adaptation of cross-sectional design. M-CHAT- R/F was applied to a sample of 20 children with suspected ASD and 100 randomly selected healthy control children, aged between 16-30 months. Autism Diagnostic Observation Schedule (ADOS-2), considered as reference, was applied to the 20 patients of the clinical sample, to 20 children of the healthy control sample and to those cases of the healthy control sample with M-CHAT-R/F positive. Cronbach alpha was calculated, as well as M-CHAT-R/F and ADOS-2 correlation, sensitivity, and specificity analyses. RESULTS : In the healthy sample, M-CHAT-R/F was positive in two patients, with one of them positive and the other one negative for ASD with ADOS-2 test. In the clinical sample, M- CHAT-R/F was positive in all cases, three of them were negative in the ADOS-2 test. The Alfa relia bility of M-CHART-R/T was 0,889, the discriminant sensitivity and specificity were 100% and 98%, and the concurrent ones were 100% and 87.5% respectively. CONCLUSIONS : The Chilean M-CHAT- R/F version was reliable, sensitive and specific, similar to the original test, which opens the possibility for its use in clinical samples and for research. Validating M-CHAT-R/F is an ongoing process which must be further developed.

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3. Gonzalez MC, Vasquez M, Hernandez-Chavez M. Autism spectrum disorder : Clinical diagnosis and ADOS Test. Rev Chil Pediatr ;2019 (Oct) ;90(5):485-491.

INTRODUCTION : Autism Spectrum Disorder (ASD) is a neurobiological disorder of high prevalence, whose clinical diagnosis is a constant challenge. OBJECTIVES : To describe the clinical profile in a co hort of children with ASD from referral to the specialist to a diagnostic test. PATIENTS AND METHOD : Descriptive study from the first symptoms perceived by the mother to the diagnostic confirmation of a series of 50 consecutive cases, which were clinically diagnosed with ASD between 2012 and 2016. Children aged between 3 to 10 years at the time of the ADOS-G test and language of at least one word were included. The children were evaluated neuropsychologically (functionality, intellectuality and ADOS test). We compared the median age to the neurological diagnosis, according to the autistic symptomatology and cognitive level. RESULTS : The ADOS test corroborated an ASD in 44 children (88%), 93.1% were males. The average age at clinical diagnosis and ADOS test was 48.2 +/- 19.3 and 62.6 +/- 23.3 months. The neurological consultation in 72% of cases was parental/educator initiative due to symptoms such as social interaction disorder and language delay. The autistic symptomato logy was mild, moderate and severe in 34.1, 47.7 and 18.2% respectively. In five of 27 children who were neuropsychologically evaluated cognitive deficits were detected. The median age at diagnosis was significantly lower in children with severe autism symptoms vs the ones with mild-moderate symptoms (p-value 0.024). CONCLUSION : Autistic symptoms determine the early consultation ; the refore, it is necessary to guide the general and educational population as well as health professionals regarding these symptoms.

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4. Hand BN, Benevides TW, Carretta HJ. Suicidal Ideation and Self-inflicted Injury in Medicare Enrolled Autistic Adults With and Without Co-occurring Intellectual Disability. J Autism Dev Disord ;2019 (Dec 19)

Suicidality is significantly more common in autistic adults than the general population, yet the factors that increase risk for suicidality among autistic adults remain largely unknown. We identified characteristics associated with suicidal ideation and suicide attempts/self-inflicted injury in a U.S. national sample of Medicare-enrolled autistic adults. We conducted a case-control study of autistic adults aged 18-59 years (n = 21,792). Younger age, white race, depression disorders, and psychiatric healthcare utilization were associated with increased odds of suicidal ideation and suicide attempts. Co-occurring intellectual disability was associated with significantly greater odds of a suicide attempt, but lower odds of suicidal ideation. Findings underscore the need for improved methods to identify ideation prior to attempt among adults with autism and intellectual disability.

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5. Heresi Venegas C. [Maternal immune activation and risk of Autism Spectrum Disorder]. Rev Chil Pediatr ;2019 (Oct) ;90(5):555-558.

Autism Spectrum Disorder (ASD) etiology has been related whit complex interaction between ge netic and environmental factors. In the last years, numerous studies have suggested that maternal immune activation during pregnancy could be related to ASD in the offspring. This relation could be explained by the effects of pro-inflammatory cytokines, autoantibodies and microglial synap tic pruning during early embryonic development. Better understanding of Neurodevelopmental Disorders risk factors will support appropriate strategies of screening and management of risk population.

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6. Jaworska N. Looking at the Big Neurochemical Picture of Autism Spectrum Disorder. Biol Psychiatry ;2020 (Jan 15) ;87(2):e5-e6.

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7. Kuja-Halkola R, Larsson H, Lundstrom S, Sandin S, Chizarifard A, Bolte S, Lichtenstein P, Frans E. Reproductive stoppage in autism spectrum disorder in a population of 2.5 million individuals. Mol Autism ;2019 ;10:45.

Background : It has been suggested that parents of children with autism spectrum disorder (ASD) curtail their reproduction, a phenomenon known as reproductive stoppage. To investigate the presence of reproductive stoppage, we followed the reproduction in mothers of children with or without an ASD diagnosis using Swedish population-based registries. Methods : We followed all families with first child born in 1987 or later. In total 2,521,103 children, nested within 1,270,017 mothers, were included. Exposure was presence of ASD diagnosis in earlier born siblings, and outcome was considered as (1) inter-pregnancy interval and (2) number of subsequent children. Results : Analyses of inter-pregnancy intervals showed that the association differed across birth orders, with a lower rate of second children when first child had ASD diagnosis, but an increased rate of third and higher birth orders in families where a previous child had an ASD diagnosis. When all birth orders were simultaneously considered, families with a child with an ASD diagnosis were less likely to have another child (hazard ratio (HR), 0.79 ; 95% confidence interval [95% CI], 0.78-0.80). However, when adjusted for birth order, the association was close to null (HR, 0.97 ; 95% CI, 0.96-0.99), and after additional adjustments (maternal age, birth period, sex, paternal age, and maternal education), the association disappeared (HR, 1.00 ; 95% CI, 0.99-1.02). In analyses of subsequent children, after adjustment for covariates, families with an ASD diagnosis had 4% more subsequent children (rate ratio, 1.04 ; 95% CI, 1.03-1.05). Limitations : The study was undertaken in a country with largely tax-funded healthcare ; results may not generalize to other societies. Following the current dominating umbrella concept of ASD, we did not differentiate between the ASD sub-diagnoses ; it is possible that reproductive patterns can be dependent on ASD subtypes and the severity and composition of ASD phenotypes and comorbidities. Conclusions : This study does not support a universal reproductive stoppage effect in ASD families, when birth order and other factors are considered. Therefore, proper attention to birth order and other factors may alleviate potential bias in familial aggregation studies of ASD.

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8. Landsiedel J, Williams DM. Increasing Extrinsic Motivation Improves Time-Based Prospective Memory in Adults with Autism : Relations with Executive Functioning and Mentalizing. J Autism Dev Disord ;2019 (Dec 21)

Time-based prospective memory (PM) is diminished under various task demands in individuals with autism spectrum disorder (ASD). However, it is still unclear what underpins their impairment or how it could be remediated. This study explored whether instructions to prioritise one element of a PM task over another improved performance in adults with ASD (compared to a group of matched neurotypical adults), and how that is related to cognitive abilities. Results indicated that importance instructions significantly improved the PM performance of participants with ASD. Moreover, the extent of the benefit was associated significantly with objectively-measured executive set-shifting ability and self-reported inhibitory control ability (the poorer the set-shifting/inhibitory control, the greater the benefit). Implications for future research and clinical practice are discussed.

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9. Novoa-Sotta F. [Ethics and autism spectrum disorder]. Rev Chil Pediatr ;2019 (Oct) ;90(5):473-475.

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10. Pinkham AE, Sasson NJ. The benefit of directly comparing autism and schizophrenia, revisited. Psychol Med ;2019 (Dec 20):1-3.

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11. Ring M, Bowler DM, Gaigg SB. A Physiological Marker of Recognition Memory in Adults with Autism Spectrum Disorder ? - The Pupil Old/New Effect. Autism Res ;2019 (Dec 20)

This study investigated the pupil Old/New effect in individuals with Autism Spectrum Disorder (ASD) and typical development (TD). Participants studied verbal and visual meaningful and meaningless materials in black and white on a computer screen. Pupil sizes were measured while participants performed a Remember (episodic memory with context)/Know (semantic memory, no context) recognition memory test. ASD compared to TD individuals showed significantly reduced recognition rates for all materials. Both groups showed better memory for visual compared to verbal (picture superiority effect) and meaningful compared to meaningless materials. A pupil size ratio (pupil size for test item divided by baseline) for old (studied) and new (unstudied) materials indicated larger pupils for old compared to new materials only for the TD but not the ASD group. Pupil size in response to old versus new items was positively related to recognition accuracy, confirming that the pupil Old/New effect reflects a memory phenomenon in the ASD group. In addition, this study suggests an involvement of the noradrenergic neurotransmitter system in the abnormal hippocampal functioning in ASD. Implications of these findings, as well as their underlying neurophysiology, will be discussed in relation to current theories of memory in ASD. Autism Res 2019, 00 : 1-14. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Most measures of memory in Autism Spectrum Disorder (ASD) depend on verbal answers. In addition to these verbal answers, this study measured the size of the participants’ pupil in response to studied and unfamiliar materials revealing memory difficulties in ASD. Measuring pupil size works nonverbally, outside of conscious awareness and forms the basis of studies on less verbal persons with ASD. Mechanisms and brain regions underlying memory differences in ASD are discussed.

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12. Rojas V, Quiroz V, Garrido C, Silva MF, Carvajal N. [Knowledge in Autistic Spectrum Disorders (ASD) in professionals of school integration programs in Valparaiso city]. Rev Chil Pediatr ;2019 (Oct) ;90(5):563-564.

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13. Rojas V, Rivera A, Nilo N. [Update in diagnosis and early intervention of Autistic Spectrum Disorder]. Rev Chil Pediatr ;2019 (Oct) ;90(5):478-484.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects the social commu nication and behavior areas. Its symptomatology display heterogeneity and a wide range of functio nality levels in each child. In the last decade, significant advances have been made in the early detec tion of risk signs, favoring early diagnosis. This has allowed access to interventions that capitalize neuroplasticity of this stage of development, raising the possibility of mitigating the full manifesta tion of the disorder. The objective of this update is to review early diagnostic tools and early inter vention models and to analyze how to implement evidence-based interventions in a health context in a country like Chile.

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14. Russell A, Gaunt D, Cooper K, Horwood J, Barton S, Ensum I, Ingham B, Parr J, Metcalfe C, Rai D, Kessler D, Wiles N. Guided self-help for depression in autistic adults : the ADEPT feasibility RCT. Health Technol Assess ;2019 (Dec) ;23(68):1-94.

BACKGROUND : Co-occurring depression frequently occurs in autism. Evidence-based psychological interventions have been successfully adapted to treat co-occurring anxiety, but there is little evidence about the usefulness of adapted cognitive-behavioural therapy for depression. To the authors’ knowledge, to date there have been no randomised trials investigating the usefulness of low-intensity cognitive-behavioural therapy for depression in autism. OBJECTIVES : The objectives of the study were to (1) develop a low-intensity psychological intervention for depression adapted for autism, (2) assess the feasibility and patient and therapist acceptability of the intervention, (3) estimate the rates of recruitment and retention for a full-scale randomised controlled trial and (4) identify an appropriate measure of depression to be used in a full-scale randomised controlled trial. DESIGN : The study comprised a randomised controlled trial (n = 70) with a nested qualitative evaluation (n = 21). Seventy eligible and consenting participants were randomly allocated to guided self-help or to treatment as usual. SETTING : Adult autism services in two NHS regions. PARTICIPANTS : Adults with a diagnosis of autism spectrum disorder with depression, that is, a Patient Health Questionnaire-9 items score of >/= 10. People who had attended more than six sessions of cognitive-behavioural therapy in the previous 6 months were excluded. INTERVENTIONS : The low-intensity intervention (guided self-help) comprised materials for nine individual sessions, based on behavioural activation adapted for autism, facilitated by therapist guides (coaches) who were graduate-level psychologists who attended training and regular supervision. Treatment as usual was standard NHS care for depression. MAIN OUTCOME MEASURES : Outcomes were measured 10, 16 and 24 weeks post randomisation using self-report and interview measures of depression, anxiety, obsessive-compulsive symptoms, social function and quality of life, and a health-care and service use questionnaire. As this was a feasibility study also designed to identify the most appropriate measure of depression, it was not possible to specify the primary outcome measure or outcome point a priori. RESULTS : The aims of the study were met in full. The guided self-help intervention was feasible and well received by participants and coaches. The majority of allocated participants attended the intervention in full. The most practical outcome point was determined to be 16 weeks. There were differential rates of attrition across the treatment groups : 86% of the guided self-help group remained in the study at 24 weeks, compared with 54% of treatment as usual group. The qualitative study suggested that guided self-help had enhanced credibility with participants at the point of randomisation. Inter-rater reliability of the interview measure of depression was less than adequate, limiting the conclusions that can be drawn from the prespecified sensitivity to change analyses. CONCLUSIONS : The intervention was feasible and well received. Although this feasibility study was not a fully powered trial, it provided some evidence that the guided self-help intervention was effective in reducing depressive symptoms. A full-scale clinical effectiveness and cost-effectiveness trial of the intervention is warranted. FUTURE WORK : Improvements to the intervention materials as a result of qualitative interviews. Stakeholder consultation to consider future trial design, consider strategies to improve retention in a treatment as usual arm and select a self-report measure of depression to serve as the primary outcome measure. TRIAL REGISTRATION : Current Controlled Trials ISRCTN54650760. FUNDING : This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment ; Vol. 23, No. 68. See the NIHR Journals Library website for further project information. This study was also supported by the NIHR Biomedical Research Centre at the University Hospitals Bristol NHS Foundation Trust and the University of Bristol.
The National Institute for Health Research commissioned research to investigate whether or not NHS psychological treatment for depression could be adapted for autistic people. Psychological treatment for anxiety can be helpful for autistic people if it is adapted to meet their needs, but there has been less research into such treatment for depression. We developed a treatment called guided self-help, which comprised materials for nine individual sessions and a manual to help the therapist guides work alongside autistic people. Two autistic people helped us to improve the session materials we had developed. The guides attended 2 days of training on how to deliver guided self-help. Seventy adults with a diagnosis of autism spectrum disorder and depression agreed to take part in the study. They were randomly allocated to guided self-help or to treatment as usual. Treatment as usual means whatever treatment would usually be available. We asked these adults to complete measures of depression, anxiety and other psychological symptoms, as well as their use of health and social care services, before treatment. We asked them to complete these measures again 10, 16 and 24 weeks later. We also invited them to take part in interviews about their experiences of the study. People who had guided self-help attended the treatment to the end and said that they found it acceptable and helpful. They suggested ways to improve the treatment materials. More people in the guided self-help group than in the treatment-as-usual group completed the 16- and 24-week follow-ups. Just over half of the people in the treatment-as-usual group did not attend the 16- and 24-week follow-ups. This would be a problem in a larger trial because we would not have enough information about the treatment-as-usual group to know if people in this group were doing better or worse than those in the guided self-help group. The findings of this study suggest that a larger trial to find out if guided self-help is effective in treating depression in autism would be helpful.

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15. Sawicka K, Hale CR, Park CY, Fak JJ, Gresack JE, Van Driesche SJ, Kang JJ, Darnell JC, Darnell RB. FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory. Elife ;2019 (Dec 20) ;8

Loss of the RNA binding protein FMRP causes Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability, yet it is unknown how FMRP function varies across brain regions and cell types and how this contributes to disease pathophysiology. Here we use conditional tagging of FMRP and CLIP (FMRP cTag CLIP) to examine FMRP mRNA targets in hippocampal CA1 pyramidal neurons, a critical cell type for learning and memory relevant to FXS phenotypes. Integrating these data with analysis of ribosome-bound transcripts in these neurons revealed CA1-enriched binding of autism-relevant mRNAs, and CA1-specific regulation of transcripts encoding circadian proteins. This contrasted with different targets in cerebellar granule neurons, and was consistent with circadian defects in hippocampus-dependent memory in Fmr1 knockout mice. These findings demonstrate differential FMRP-dependent regulation of mRNAs across neuronal cell types that may contribute to phenotypes such as memory defects and sleep disturbance associated with FXS.

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16. Schmitt LM, Bojanek E, White SP, Ragozzino ME, Cook EH, Sweeney JA, Mosconi MW. Familiality of behavioral flexibility and response inhibition deficits in autism spectrum disorder (ASD). Mol Autism ;2019 ;10:47.

Background : Diminished cognitive control, including reduced behavioral flexibility and behavioral response inhibition, has been repeatedly documented in autism spectrum disorder (ASD). We evaluated behavioral flexibility and response inhibition in probands and their parents using a family trio design to determine the extent to which these cognitive control impairments represent familial traits associated with ASD. Methods : We examined 66 individuals with ASD (probands), 135 unaffected biological parents, and 76 typically developing controls. Participants completed a probabilistic reversal learning task (PRL) and a stop-signal task (SST) to assess behavioral flexibility and response inhibition respectively. Rates of PRL and SST errors were examined across groups, within families, and in relation to clinical and subclinical traits of ASD. Based on prior findings that subclinical broader autism phenotypic (BAP) traits may co-segregate within families and reflect heritable risk factors, we also examined whether cognitive control deficits were more prominent in families in which parents showed BAP features (BAP+). Results : Probands and parents each showed increased rates of PRL and SST errors relative to controls. Error rates across tasks were not related. SST error rates inter-correlated among probands and their parents. PRL errors were more severe in BAP+ parents and their children relative to BAP- parents and their children. For probands of BAP+ parents, PRL and SST error rates were associated with more severe social-communication abnormalities and repetitive behaviors, respectively. Conclusion : Reduced behavioral flexibility and response inhibition are present among probands and their unaffected parents, but represent unique familial deficits associated with ASD that track with separate clinical issues. Specifically, behavioral response inhibition impairments are familial in ASD and manifest independently from parental subclinical features. In contrast, behavioral flexibility deficits are selectively present in families with BAP characteristics, suggesting they co-segregate in families with parental subclinical social, communication, and rigid personality traits. Together, these findings provide evidence that behavioral flexibility and response inhibition impairments track differentially with ASD risk mechanisms and related behavioral traits.

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17. Sevgi M, Diaconescu AO, Henco L, Tittgemeyer M, Schilbach L. Social Bayes : Using Bayesian Modeling to Study Autistic Trait-Related Differences in Social Cognition. Biol Psychiatry ;2020 (Jan 15) ;87(2):185-193.

BACKGROUND : The autistic spectrum is characterized by profound impairments of social interaction. The exact subpersonal processes, however, that underlie the observable lack of social reciprocity are still a matter of substantial controversy. Recently, it has been suggested that the autistic spectrum might be characterized by alterations of the brain’s inference about the causes of socially relevant sensory signals. METHODS : We used a novel reward-based learning task that required integration of nonsocial and social cues in conjunction with computational modeling. Thirty-six healthy subjects were selected based on their score on the Autism-Spectrum Quotient (AQ), and AQ scores were assessed for correlations with cue-related model parameters and task scores. RESULTS : Individual differences in AQ scores were significantly correlated with participants’ total task scores, with high AQ scorers performing more poorly in the task (r = -.39, 95% confidence interval = -0.68 to -0.13). Computational modeling of the behavioral data unmasked a learning deficit in high AQ scorers, namely, the failure to integrate social context to adapt one’s belief precision-the precision afforded to prior beliefs about changing states in the world-particularly in relation to the nonsocial cue. CONCLUSIONS : More pronounced autistic traits in a group of healthy control subjects were related to lower scores associated with misintegration of the social cue. Computational modeling further demonstrated that these trait-related performance differences are not explained by an inability to process the social stimuli and their causes, but rather by the extent to which participants consider social information to infer the nonsocial cue.

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18. Shen L, Liu X, Zhang H, Lin J, Feng C, Iqbal J. Biomarkers in autism spectrum disorders : Current progress. Clin Chim Acta ;2019 (Dec 16) ;502:41-54.

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders characterized by social interaction and communication deficits and repetitive and stereotyped behaviors. As the etiology and pathogenesis of the disorder have not yet been elucidated, specific treatment and reliable diagnostic biomarkers are not available. Early behavioral interventions have been shown to substantially improve symptoms in children with ASD. Given the rapidly increasing prevalence of ASD, there is an urgent need to identify related diagnostic biomarkers. Although specific diagnostic markers for ASD have not been identified, the related research has made progress in different aspects. This review summarizes recent findings of the use of genes, proteins, peptides, and metabolites as diagnostic markers for ASD. The associated techniques include genetic testing and proteomic and metabolomic analyses. In addition, some studies have focused on single or several proteins and metabolites. Moreover, transcriptomic analysis, immune disturbances and cytokine may also be used for this purpose. The pathogenesis involving genes, proteins, and metabolites is also discussed here.

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