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1.
Article in Spanish | LILACS | ID: biblio-1524668

ABSTRACT

En los últimos años aumentaron las investigaciones sobre co-ocurrencia de trastorno del espectro autista (TEA) y disforia de género (DG) secundario a la necesidad de una mayor comprensión de este fenómeno clínico emergente. Objetivos: Caracterizar los estudios en torno a la co-ocurrencia entre TEA y DG en adolescentes. Metodología: Se realizó una revisión sistemática bibliográfica. Se seleccionaron los estudios que mencionaron esta correlación e incluyeron población adolescente. Resultados: La búsqueda inicial arrojó un total de 97 publicaciones. Finalmente, de acuerdo a los criterios de elegibilidad, se incluyeron 35 artículos. Existen escasos estudios enfocados sólo en adolescentes, amplios rangos de prevalencia de esta relación y heterogeneidad en los instrumentos utilizados. Conclusiones: Al evaluar individuos con DG se debiese llevar a cabo un screening de TEA, y viceversa, para no pasar por alto esta co-ocurrencia. Cabe destacar que quienes presentan TEA tienen particularidades relacionadas con el pensamiento y planificación a futuro que hay que considerar al momento de realizar cualquier tipo de tratamiento afirmativo irreversible, enmarcado dentro de un proceso terapéutico multidimensional. Palabras claves: Adolescentes, Disforia de género, Trastorno de Espectro Autista (TEA), Condición de Espectro Autista (CEA), Autismo.


Research on co-occurrence of autism spectrum disorder (ASD) and gender dysphoria (GD) increased in recent years driven by the need for greater understanding of this emerging clinical phenomenon. Objective. To characterize studies on the co-occurrence of ASD and GD in adolescents. Methodology. A systematic literature review was conducted. Studies mentioning this correlation and including adolescent population were selected. Results. The initial search showed a total of 97 publications. 35 articles were included in the review that met the eligibility criteria. There are few studies focused only on adolescents, there is a wide range of prevalence of this relationship and heterogeneity in the instruments used. Conclusions. When evaluating individuals with GD, an ASD screening should be conducted,and vice versa, to avoid overlooking this cooccurrence. It is important to note that those with ASD have particularities related to cognitive development that need to be considered when undergoing any type of irreversible affirmative treatment, within a multidimensional therapeutic process. Keywords. Adolescents, Gender dysphoria, Autism Spectrum Disorder (ASD), Autism.


Subject(s)
Humans , Child , Adolescent , Adult , Autism Spectrum Disorder/psychology , Autism Spectrum Disorder/epidemiology , Gender Dysphoria/psychology , Gender Dysphoria/epidemiology , Comorbidity , Prevalence
2.
Mol Divers ; 27(5): 2217-2238, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36409431

ABSTRACT

Some important atypical antipsychotic drugs target the serotonergic receptor 2A (5-HT2AR). Currently, new therapeutic strategies are needed to offer faster onset of action with fewer side effects and, therefore, greater efficacy in a substantial proportion of patients with neuropsychological disorders such as Autism and Parkinson. The main objective of this work was to use SBDD methods to identify new hit compounds potentially useful as precursors of novel and selective 5-HT2AR antagonists. A structure-based pharmacophore screening study based on a selective antagonist was carried out in ten databases. The set obtained was refined using molecular docking, and the five most promising compounds were subjected to molecular dynamics simulations. The most stable and promising hit occupied a side pocket present in the 5-HT2AR, a site that can be explored to obtain selective ligands. Simulations against 5-HT2CR and D2R showed that the best hit could not form stable complexes with these targets, strengthening the hypothesis that the hit presents selective binding by the receptor of interest. The selected hits showed some predicted toxicity risk or violated some drug-likeness property. However, it can be concluded that the identified hits are the most promising for performing in vitro assays. Once the presence of activity is confirmed, they could become precursors of optimized and selective antagonists of 5-HT2AR. An SBDD study was carried out to identify new selective 5-HT2AR ligands potentially useful for designing selective atypical antipsychotics.


Subject(s)
Antipsychotic Agents , Humans , Antipsychotic Agents/pharmacology , Molecular Dynamics Simulation , Molecular Docking Simulation , Serotonin , Pharmacophore , Ligands , Protein Binding
3.
Cureus ; 14(10): e30486, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36415352

ABSTRACT

Schuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.

4.
J Autism Dev Disord ; 2022 Nov 27.
Article in English | MEDLINE | ID: mdl-36436147

ABSTRACT

To investigate additive and interactive associations of food allergies with three glutathione S-transferase (GST) genes in relation to ASD and ASD severity in Jamaican children. Using data from 344 1:1 age- and sex-matched ASD cases and typically developing controls, we assessed additive and interactive associations of food allergies with polymorphisms in GST genes (GSTM1, GSTP1 and GSTT1) in relation to ASD by applying conditional logistic regression models, and in relation to ASD severity in ASD cases as measured by the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) total and domains specific comparison scores (CSs) by fitting general linear models. Although food allergies and GST genes were not associated with ASD, ASD cases allergic to non-dairy food had higher mean ADOS-2 Restricted and Repetitive Behaviors (RRB) CS (8.8 vs. 8.0, P = 0.04). In addition, allergy to dairy was associated with higher mean RRB CS only among ASD cases with GSTT1 DD genotype (9.9 vs. 7.8, P < 0.01, interaction P = 0.01), and GSTP1 Val/Val genotype under a recessive genetic model (9.8 vs. 7.8, P = 0.02, interaction P = 0.06). Our findings are consistent with the role for GST genes in ASD and food allergies, though require replication in other populations.

5.
Front Hum Neurosci ; 16: 955607, 2022.
Article in English | MEDLINE | ID: mdl-36061507

ABSTRACT

Neurodevelopmental disorders differ considerably between males and females, and fetal brain development is one of the most critical periods to determine risk for these disorders. Transcriptomic studies comparing male and female fetal brain have demonstrated that the highest difference in gene expression occurs in sex chromosomes, but several autossomal genes also demonstrate a slight difference that has not been yet explored. In order to investigate biological pathways underlying fetal brain sex differences, we applied medicine network principles using integrative methods such as co-expression networks (CEMiTool) and regulatory networks (netZoo). The pattern of gene expression from genes in the same pathway tend to reflect biologically relevant phenomena. In this study, network analysis of fetal brain expression reveals regulatory differences between males and females. Integrating two different bioinformatics tools, our results suggest that biological processes such as cell cycle, cell differentiation, energy metabolism and extracellular matrix organization are consistently sex-biased. MSET analysis demonstrates that these differences are relevant to neurodevelopmental disorders, including autism.

6.
Genes (Basel) ; 13(6)2022 05 29.
Article in English | MEDLINE | ID: mdl-35741737

ABSTRACT

Glutathione S-transferases (GST) are involved in the detoxification of exogenous chemicals including lead (Pb). Using data from 344 pairs of autism spectrum disorder (ASD) cases and age- and sex-matched typically developing (TD) controls (2−8 years old) from Jamaica, we investigated the interaction between three GST genes and ASD status as determinants of blood Pb concentrations (BPbCs). We found that ASD cases had lower geometric mean BPbCs than TD children (1.74 vs. 2.27 µg/dL, p < 0.01). Using a co-dominant genetic model, ASD cases with the Ile/Val genotype for the GSTP1 Ile105Val polymorphism had lower GM BPbCs than TD controls, after adjusting for a known interaction between GSTP1 and GSTT1, child's parish, socioeconomic status, consumption of lettuce, fried plantains, and canned fish (Ile/Val: 1.78 vs. 2.13 µg/dL, p = 0.03). Similarly, among carriers of the I/I or I/D (I*) genotype for GSTT1 and GSTM1, ASD cases had lower adjusted GM BPbCs than TD controls (GSTT1 I*: 1.61 vs. 1.91 µg/dL, p = 0.01; GSTM1 I*: 1.71 vs. 2.04 µg/dL, p = 0.01). Our findings suggest that genetic polymorphisms in GST genes may influence detoxification of Pb by the enzymes they encode in Jamaican children with and without ASD.


Subject(s)
Autism Spectrum Disorder , Glutathione Transferase , Lead , Autism Spectrum Disorder/genetics , Child , Child, Preschool , Glutathione Transferase/genetics , Humans , Jamaica , Lead/blood
7.
Int J Mol Sci ; 23(6)2022 Mar 11.
Article in English | MEDLINE | ID: mdl-35328471

ABSTRACT

Autism spectrum disorder (ASD) is a group of complex multifactorial neurodevelopmental disorders characterized by a wide and variable set of neuropsychiatric symptoms, including deficits in social communication, narrow and restricted interests, and repetitive behavior. The immune hypothesis is considered to be a major factor contributing to autism pathogenesis, as well as a way to explain the differences of the clinical phenotypes and comorbidities influencing disease course and severity. Evidence highlights a link between immune dysfunction and behavioral traits in autism from several types of evidence found in both cerebrospinal fluid and peripheral blood and their utility to identify autistic subgroups with specific immunophenotypes; underlying behavioral symptoms are also shown. This review summarizes current insights into immune dysfunction in ASD, with particular reference to the impact of immunological factors related to the maternal influence of autism development; comorbidities influencing autism disease course and severity; and others factors with particular relevance, including obesity. Finally, we described main elements of similarities between immunopathology overlapping neurodevelopmental and neurodegenerative disorders, taking as examples autism and Parkinson Disease, respectively.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Immune System Diseases , Neurodevelopmental Disorders , Autism Spectrum Disorder/etiology , Autistic Disorder/complications , Humans , Immune System Diseases/complications , Neurodevelopmental Disorders/complications
8.
Front Hum Neurosci, v. 16, 955607, ago. 2022
Article in English | Sec. Est. Saúde SP, SESSP-IBPROD, Sec. Est. Saúde SP | ID: bud-4507

ABSTRACT

Neurodevelopmental disorders differ considerably between males and females, and fetal brain development is one of the most critical periods to determine risk for these disorders. Transcriptomic studies comparing male and female fetal brain have demonstrated that the highest difference in gene expression occurs in sex chromosomes, but several autossomal genes also demonstrate a slight difference that has not been yet explored. In order to investigate biological pathways underlying fetal brain sex differences, we applied medicine network principles using integrative methods such as co-expression networks (CEMiTool) and regulatory networks (netZoo). The pattern of gene expression from genes in the same pathway tend to reflect biologically relevant phenomena. In this study, network analysis of fetal brain expression reveals regulatory differences between males and females. Integrating two different bioinformatics tools, our results suggest that biological processes such as cell cycle, cell differentiation, energy metabolism and extracellular matrix organization are consistently sex-biased. MSET analysis demonstrates that these differences are relevant to neurodevelopmental disorders, including autism.

9.
Article in English | MEDLINE | ID: mdl-33546147

ABSTRACT

We investigated interactive roles of three metabolic glutathione S-transferase (GST) genes (GSTP1, GSTT1, and GSTM1) and autism spectrum disorder (ASD) status in relation to blood Hg concentrations (BHC) of Jamaican children. We used data from 266 children (2-8 years) with ASD and their 1:1 age- and sex-matched typically developing (TD) controls. After adjusting General Linear Models for child's age, socioeconomic status, consumption of leafy vegetables, fried plantain, canned fish, and the interaction between GSTP1 and GSTT1, we found significant interactions between GSTP1 and ASD status in relation to BHC either in a co-dominant or dominant genetic model for GSTP1(P < 0.001, P = 0.007, respectively). In the co-dominant model for the Ile105Val GSTP1 polymorphism, geometric mean (GM) BHC in ASD cases with genotype Ile/Ile were significantly higher than in cases with the Ile/Val genotype (0.73 vs. 0.48 µg/L, P = 0.01). In contrast, in TD controls with the Ile/Val genotype GM BHC were significantly higher than in those with the Ile/Ile genotype (0.72 vs. 0.49 µg/L, P = 0.03) or the Val/Val genotype (0.72 vs. 0.51 µg/L, P = 0.04). Although our findings are consistent with the role of GSTP1 in detoxification of Hg, replication in other populations is warranted.


Subject(s)
Autism Spectrum Disorder , Mercury , Autism Spectrum Disorder/genetics , Case-Control Studies , Child , Genetic Predisposition to Disease , Genotype , Glutathione S-Transferase pi/genetics , Glutathione Transferase/genetics , Humans , Polymorphism, Genetic , Risk Factors
10.
J Autism Dev Disord ; 51(8): 3001-3013, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33057859

ABSTRACT

Shared difficulties with cognitive control may play a role in co-occurring mental health problems frequently observed in autistic children. We investigated how different cognitive control processes (inhibitory control, conflict resolution, cognitive flexibility) associated with traits of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD) and anxiety in 7-year-old children at elevated (n = 44) and typical (n = 37) familial likelihood for ASD. Poor inhibitory control was associated with higher ADHD traits. Better inhibitory control and poorer cognitive flexibility predicted higher anxiety traits. Cognitive control processes were not associated dimensionally with autistic traits, though better conflict resolution predicted greater likelihood of meeting diagnostic criteria for ASD in categorical analysis. These findings suggest that different cognitive control alterations are associated with ASD, ADHD and anxiety.


Subject(s)
Anxiety Disorders/psychology , Anxiety/psychology , Attention Deficit Disorder with Hyperactivity/psychology , Autism Spectrum Disorder/psychology , Executive Function/physiology , Anxiety/complications , Anxiety Disorders/complications , Attention Deficit Disorder with Hyperactivity/complications , Autism Spectrum Disorder/complications , Child , Cognition , Female , Humans , Male , Risk Factors
11.
J Autism Dev Disord ; 51(6): 1953-1965, 2021 Jun.
Article in English | MEDLINE | ID: mdl-32892263

ABSTRACT

Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P = 0.02, P = 0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC > 12 vs. ≤ 8.3 µg/L, respectively. Replication in other populations is warranted.


Subject(s)
Autism Spectrum Disorder/blood , Autism Spectrum Disorder/genetics , Glutathione Transferase/genetics , Manganese/blood , Black or African American , Case-Control Studies , Child , Child, Preschool , Genetic Predisposition to Disease , Genotype , Glutathione S-Transferase pi , Humans , Male , Polymorphism, Genetic
12.
Article in English | MEDLINE | ID: mdl-32661462

ABSTRACT

BACKGROUND: Polychlorinated biphenyls (PCBs) and organochlorine (OC) pesticides are suspected to play a role in autism spectrum disorder (ASD). OBJECTIVES: To investigate associations of PCBs and OC pesticides with ASD in Jamaican children and explore possible interaction between PCBs or OC pesticides with glutathione S-transferase (GST) genes (GSTT1, GSTM1, GSTP1) in relation to ASD. METHODS: Participants included n=169 age- and sex-matched case-control pairs of Jamaican children 2-8 years old. Socioeconomic status and food frequency data were self-reported by the parents/guardians. Blood from each participant was analyzed for 100 PCB congeners and 17 OC pesticides and genotyped for three GST genes. PCBs and OC pesticides concentrations below the limit of detection (LoD) were replaced with (LoD/√2). We used conditional logistic regression (CLR) models to assess associations of PCBs and OC pesticides with ASD, individually or interactively with GST genes (GSTT1, GSTM1, GSTP1). RESULTS: We found inverse associations of PCB-153 [adjusted MOR (95% CI) = 0.44 (0.23-0.86)] and PCB-180 [adjusted MOR (95% CI) = 0.52 (0.28-0.95)] with ASD. When adjusted for covariates in a CLR the interaction between GSTM1 and PCB-153 became significant (P < 0.01). DISCUSSION: Differences in diet between ASD and typically developing control groups may play a role in the observed findings of lower concentrations of PCB-153 and PCB-180 in individuals with ASD than in controls. Considering the limited sample size and high proportion of concentrations below the LoD, these results should be interpreted with caution but warrant further investigation into associations of PCBs and OC pesticides with ASD.

13.
Rev. latinoam. bioét ; 19(1): 13-26, ene.-jun. 2019. tab
Article in Spanish | LILACS | ID: biblio-1115710

ABSTRACT

Resumen: El presente artículo muestra la importancia que tiene el consentimiento informado en los procesos de investigación científica y, por ende, la vulnerabilidad que enfrentan ante este procedimiento las personas con discapacidad. Se presenta la evolución del concepto del consentimiento informado en diferentes países de Iberoamérica y Estados Unidos. De igual manera, se abordan los diversos criterios que deben considerarse dentro del consentimiento informado, así como los tratados y declaraciones que deben tomarse en cuenta para no vulnerar los derechos humanos de los participantes en investigaciones científicas. Además, dentro de este dilema ético en nuestros tiempos, se aborda el trastorno del espectro autista (TEA), un trastorno del neurodesarrollo que, al presentar diversos grados de severidad, no permite que las personas con tea puedan dar su opinión, aunado a esto que sean menores de edad, aspectos que los pone en condición de vulnerabilidad.


Abstract: This article shows the importance of informed consent in scientific research processes and therefore the vulnerability faced by people with disabilities in this procedure. The evolution of the concept of informed consent in different countries of Latin America and the United States is presented. Similarly, the various criteria that must be considered within the informed consent are addressed, as well as the treaties and declarations that must be taken into account so as not to violate the human rights of the participants in scientific research. In addition, within this ethical dilemma in our times, the autism spectrum disorder (ASD) is addressed, a neurodevelopmental disorder that, by presenting varying degrees of severity, does not allow people with ASD to give their opinion, combined with the cases where the participants are underage, an issue that puts them in a condition of vulnerability.


Resumo: O presente artigo mostra a importância que o consentimento informado tem nos processos de pesquisa científica e, portanto, a vulnerabilidade que as pessoas com deficiência enfrentam diante desse procedimento. Apresenta-se a evolução do conceito do consentimento informado em diferentes países da América Ibérica e nos Estados Unidos. Do mesmo modo, abordam-se os diversos critérios que devem ser considerados dentro do consentimento informado, bem como os tratados e declarações que devem ser levados em consideração para não vulnerar os direitos humanos dos participantes em pesquisas científicas. Além disso, dentro desse dilema ético em nossos tempos, aborda-se o transtorno do espectro autista (TEA), um transtorno do neurodesenvolvimento que, ao apresentar diversos graus de severidade, não permite que as pessoas com TEA possam dar sua opinião, além de serem menores de idade, aspectos que os põe em condição de vulnerabilidade.


Subject(s)
Humans , Autism Spectrum Disorder , Informed Consent , United States , Developmental Disabilities , Scientific Research and Technological Development , Human Rights
14.
Biom J ; 61(4): 934-954, 2019 07.
Article in English | MEDLINE | ID: mdl-31058353

ABSTRACT

A weighted quantile sum (WQS) regression has been used to assess the associations between environmental exposures and health outcomes. However, the currently available WQS approach, which is based on additive effects, does not allow exploring for potential interactions of exposures with other covariates in relation to a health outcome. In addition, the current WQS cannot account for clustering, thus it may not be valid for analysis of clustered data. We propose a generalized WQS approach that can assess interactions by estimating stratum-specific weights of exposures in a mixture, while accounting for potential clustering effect of matched pairs of cases and controls as well as censored exposure data due to being below the limits of detection. The performance of the proposed method in identifying interactions is evaluated through simulations based on various scenarios of correlation structures among the exposures and with an outcome. We also assess how well the proposed method performs in the presence of the varying levels of censoring in exposures. Our findings from the simulation study show that the proposed method outperforms the traditional WQS, as indicated by higher power of detecting interactions. We also find no strong evidence that the proposed method falsely identifies interactions when there are no true interactive effects. We demonstrate application of the proposed method to real data from the Epidemiological Research on Autism Spectrum Disorder (ASD) in Jamaica (ERAJ) by examining interactions between exposure to manganese and glutathione S-transferase family gene, GSTP1 in relation to ASD.


Subject(s)
Biometry/methods , Autism Spectrum Disorder/epidemiology , Autism Spectrum Disorder/genetics , Glutathione S-Transferase pi/genetics , Humans , Jamaica/epidemiology , Manganese/pharmacology , Models, Statistical , Regression Analysis
15.
Front Hum Neurosci ; 13: 446, 2019.
Article in English | MEDLINE | ID: mdl-31920602

ABSTRACT

One of the most important and early impairments in autism spectrum disorder (ASD) is the abnormal visual processing of human faces. This deficit has been associated with hypoactivation of the fusiform face area (FFA), one of the main hubs of the face-processing network. Neurofeedback based on real-time fMRI (rtfMRI-NF) is a technique that allows the self-regulation of circumscribed brain regions, leading to specific neural modulation and behavioral changes. The aim of the present study was to train participants with ASD to achieve up-regulation of the FFA using rtfMRI-NF, to investigate the neural effects of FFA up-regulation in ASD. For this purpose, three groups of volunteers with normal I.Q. and fluent language were recruited to participate in a rtfMRI-NF protocol of eight training runs in 2 days. Five subjects with ASD participated as part of the experimental group and received contingent feedback to up-regulate bilateral FFA. Two control groups, each one with three participants with typical development (TD), underwent the same protocol: one group with contingent feedback and the other with sham feedback. Whole-brain and functional connectivity analysis using each fusiform gyrus as independent seeds were carried out. The results show that individuals with TD and ASD can achieve FFA up-regulation with contingent feedback. RtfMRI-NF in ASD produced more numerous and stronger short-range connections among brain areas of the ventral visual stream and an absence of the long-range connections to insula and inferior frontal gyrus, as observed in TD subjects. Recruitment of inferior frontal gyrus was observed in both groups during FAA up-regulation. However, insula and caudate nucleus were only recruited in subjects with TD. These results could be explained from a neurodevelopment perspective as a lack of the normal specialization of visual processing areas, and a compensatory mechanism to process visual information of faces. RtfMRI-NF emerges as a potential tool to study visual processing network in ASD, and to explore its clinical potential.

16.
J Pediatr ; 202: 258-264.e1, 2018 11.
Article in English | MEDLINE | ID: mdl-30220443

ABSTRACT

OBJECTIVE: To explore associations between level of adverse childhood experiences (ACEs) and unmet healthcare needs among children with autism spectrum disorder (ASD) using a population-based sample. STUDY DESIGN: Cross-sectional data from the 2011-2012 National Survey of Child Health were analyzed to estimate prevalence of unmet healthcare needs among children with ASD, aged 2-17 years (ASD = 1624; estimated population = 1 174 871). Multivariate Poisson and logistic regression models were used to estimate the relationship between reported ACEs and unmet healthcare needs among children with ASD. RESULTS: After we adjusted for all other variables, children with ASD who experienced 1-2 ACEs and 3+ ACEs were associated with 1.78 (P < .05) and 2.53 (P < .01) times the incidence rate of unmet healthcare needs in comparison with children without ACEs. Compared with children who experienced 0 ACEs, the adjusted odds of any unmet healthcare need were 2.34 (P < .01) and 2.66 (P < .01) for children with 1-2 ACEs and 3 + ACEs, respectively. CONCLUSION: Although limited to cross-sectional data, our study provides compelling evidence on the link between ACEs and unmet healthcare needs among children with ASD. It advances understanding of risk factors in the child and community context that contribute to health disparities and negatively impact healthcare access and use in this population.


Subject(s)
Adverse Childhood Experiences/statistics & numerical data , Autism Spectrum Disorder/therapy , Child Health Services/organization & administration , Disabled Children/rehabilitation , Health Services Needs and Demand , Adolescent , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/epidemiology , Child , Child, Preschool , Cross-Sectional Studies , Disabled Children/statistics & numerical data , Female , Health Services Accessibility/statistics & numerical data , Humans , Logistic Models , Male , Outcome Assessment, Health Care , Retrospective Studies , Risk Assessment , Socioeconomic Factors , United States
17.
Front Pediatr ; 6: 394, 2018.
Article in English | MEDLINE | ID: mdl-30619789

ABSTRACT

Recent reports show an increase in the incidence of Autism Spectrum Disorders (ASD) to 1 in every 59 children up to 8 years old in 11 states in North America. Induced pluripotent stem cell (iPSC) technology offers a groundbreaking platform for the study of polygenic neurodevelopmental disorders in live cells. Robust inflammation states and immune system dysfunctions are associated with ASD and several cell types participate on triggering and sustaining these processes. In this review, we will examine the contribution of neuroinflammation to the development of autistic features and discuss potential therapeutic approaches. We will review the available tools, emphasizing stem cell modeling as a technology to investigate the various molecular pathways and different cell types involved in the process of neuroinflammation in ASD.

18.
Article in English | MEDLINE | ID: mdl-29160842

ABSTRACT

Environmental exposure to organic endocrine disrupting chemicals, including dioxins, dibenzofurans, bisphenol A (BPA), and phthalates has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD). We conducted a pilot monitoring study of 30 ASD cases and 10 typically developing (TD) controls ages 2-8 years from communities along the Gulf of Mexico near Alabama, which houses 14 Superfund sites, to assess the concentrations of dioxins and dibenzofurans in serum, and BPA and phthalate ester metabolites in urine. Based on General Linear Models, the lipid- or creatinine-adjusted geometric mean concentrations of the aforementioned chemicals did not differ between the ASD case and TD control groups (all p ≥ 0.27). We compared our findings to the adjusted means as reported by the National Health and Nutrition Examination Survey, survey years 2011-2012, and found that TD controls in our study had lower BPA (59%) and MEHHP (26%) concentrations, higher MBP (50%) concentration, and comparable (<20% difference) MEP, MBZP, MEOHP, and MCPP concentrations. We also conducted a preliminary investigation of dietary exposures and found that the consumption of certain types of fish may be associated with higher OCDD concentrations, and the consumption of soft drinks and juices may be associated with lower BPA and MEOHP concentrations, respectively.


Subject(s)
Autism Spectrum Disorder/epidemiology , Environmental Exposure/analysis , Environmental Pollutants/blood , Environmental Pollutants/urine , Adult , Autism Spectrum Disorder/blood , Autism Spectrum Disorder/urine , Benzhydryl Compounds/urine , Case-Control Studies , Child , Child, Preschool , Dibenzofurans/blood , Diet , Dioxins/blood , Endocrine Disruptors/blood , Endocrine Disruptors/urine , Female , Gulf of Mexico/epidemiology , Humans , Male , Nutrition Surveys , Phenols/urine , Phthalic Acids/urine
19.
Publ. CEAPIA ; 26(26): 122-132, 2017.
Article in Portuguese | Index Psychology - journals | ID: psi-71102

ABSTRACT

Este artigo trata da releitura e breve atualização ao artigo: "Abordagens psicoterápicas nas psicoses infantis", publicado no nº1 de nossa revista, em 1988. A partir da correção a ser feita no título, no qual há a hoje equivocada sobreposição de quadros autistas e psicóticos, discutem-se as modificações conceituais, oriundas de pesquisas clínicas e do campo das neurociências, ocorridas nesses quase 30 anos, culminando na atualidade do conceito de "transtornos do espectro autista" (TEA), apresentado pelo DSM-V (2015), no capítulo dos "Transtornos de Desenvolvimento". Consideram-se estes transtornos causados por um déficit específico, sobretudo na área de interação pessoal, e não uma doença. Distingue-se o funcionamento mental predominante nos transtornos do espectro autista, diferente dos mecanismos mentais predominantes nas psicoses infantis. Mencionam-se aspectos fisiopatológicos cerebrais, cuja pesquisa prossegue e levantam-se dúvidas a serem ainda respondidas, na necessária articulação entre a compreensão psicodinâmica e os achados biológicos. Retoma-se a síntese das recomendações terapêuticas apresentadas no artigo original


This article aims at re-reading and briefly updating the article "Psychotherapeutic Approaches to Childhood Psychoses", wich was published in the first issue of our journal in 1988. Starting from the correction to be made in the title, in which there is currently the mistaken overlap of autistic and psychotic disorders, conceptual modifications have been discussed, originated from clinical researches and developments in the neuroscience field that ocurred during the last thirty years, which resulted in the current concept of "Autism Spectrum Disorder (ASD), presented by DSM-V (2015), in the chapter on "Developmental Disorders ". These disorders are deemed to be the effect of a specific deficit, especially in the field of social interaction, and should not be labeled as a disease. The predominant mental functioning of autistic spectrum disorders is distinct from the predominant mental mechanisms of children's psychoses. Physiopathological aspects of the brain have been mentioned and research has moved forward, but doubts have been raised and questions are yet to be answered, within the necessary articulation between psychodynamic understandig and biological findings. The synthesis of the therapeutic recommendations presented in the original article have been resumed


Subject(s)
Humans , Infant, Newborn , Child , Autistic Disorder , Psychotic Disorders , Child Development , Developmental Disabilities , Interpersonal Relations
20.
Educ. revEduc. rev ; 33: e142079, 2017. tab, graf
Article in Portuguese | LILACS | ID: biblio-891211

ABSTRACT

RESUMO: Este estudo teve como objetivo realizar uma revisão sistemática da literatura nacional e internacional quanto a artigos de periódicos científicos sobre a inclusão escolar de crianças com Transtorno do Espectro Autista (TEA), atentando-se para o período e o periódico, os temas investigados e suas metodologias. Foram localizados 25 estudos nacionais, nas bases LILACS, BVS, SCIELO e Portal de Periódicos da CAPES, publicados entre 1998 e 2014, e 92 internacionais, localizados nas bases EBSCOhost e Medline, publicados entre 1993 e 2013. As pesquisas nacionais e internacionais foram agrupadas de acordo com os temas de investigação e os seus objetivos. A maioria dos estudos localizados caracterizou-se como empírico e de abordagem qualitativa. De modo geral, a revisão da literatura realizada possibilitou o resgate de experiências sobre a inclusão escolar de crianças com TEA, além de esboçar um breve panorama dos principais temas que estão sendo investigados.


ABSTRACT: This study aimed to perform a systematic review of national and international literature, published in indexed journals, on the inclusion of children with Autism Spectrum Disorder (ASD), focusing on the period and journal of the publishing, research themes, and methodological choices. A number of 25 national studies, taken from LILACS, BVS, SciELO and CAPES Portal databases and published between 1998 and 2014, were found, as well as 92 international studies, published from 1993 to 2013, taken from EBSCOhost e Medline databases. The study have grouped the national e international surveys according to the research topics and considering their objectives. An empirical and qualitative approach characterized most of the found studies. Overall, the literature review has enabled the rescue of experiences on inclusion of children with ASD, in addition to outlining a brief overview of the issues currently under investigation.

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