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21.
Front Cell Infect Microbiol ; 11: 759435, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34737978

RESUMO

Autism spectrum disorder (ASD) is a severe brain development disorder that is characterized by deficits in social communication and restricted, repetitive and stereotyped behaviors. Accumulating evidence has suggested that gut microbiota disorders play important roles in gastrointestinal symptoms and neurodevelopmental dysfunction in ASD patients. Manipulation of the gut microbiota by fecal microbiota transplantation (FMT) was recently shown to be a promising therapy for the treatment of various diseases. Here, we performed a clinical trial to evaluate the effect of FMT on gastrointestinal (GI) and ASD symptoms and gut microbiota alterations in children with ASD. We found that there was a large difference in baseline characteristics of behavior, GI symptoms, and gut microbiota between children with ASD and typically developing (TD) control children. FMT could improve GI symptoms and ASD symptoms without inducing any severe complications. Similarly, FMT significantly changed the serum levels of neurotransmitters. We further observed that FMT could promote the colonization of donor microbes and shift the bacterial community of children with ASD toward that of TD controls. The abundance of Eubacterium coprostanoligenes pre-FMT was positively correlated with high GSRS scores, whereas a decrease in Eubacterium coprostanoligenes abundance induced by FMT was associated with the FMT response. Our data suggest that FMT might be a promising therapeutic strategy to improve the GI and behavioral symptoms of patients with ASD, possibly due to its ability to alter gut microbiota and highlight a specific microbiota intervention that targets Eubacterium coprostanoligenes that can enhance the FMT response. This trial was registered at the Chinese Clinical Trial Registry (www.chictr.org.cn) (trial registration number ChiCTR1800014745).


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Microbioma Gastrointestinal , Transtorno do Espectro Autista/terapia , Criança , Eubacterium , Transplante de Microbiota Fecal , Humanos
24.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(11): 1097-1100, 2021 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-34729751

RESUMO

OBJECTIVE: To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD). METHODS: Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%). RESULTS: NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism. CONCLUSION: ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.


Assuntos
Transtorno do Espectro Autista , Irmãos , Células Germinativas , Humanos , Masculino , Mosaicismo , Mutação , Canal de Sódio Disparado por Voltagem NAV1.2/genética
25.
Am J Occup Ther ; 75(6)2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34817591

RESUMO

IMPORTANCE: Robust and psychometrically sound performance-based outcome measures are needed for clinical trials of occupational therapy interventions for children with autism. OBJECTIVE: To demonstrate a systematic approach for choosing psychometrically sound performance-based outcome measures of daily living skills and socialization for use in clinical trials of occupational therapy interventions for children with autism. DESIGN: Rapid literature review to identify appropriate measures for studies with this population followed by quality indicator ratings and a nominal group process. SETTING: University. PARTICIPANTS: Four experts in autism and pediatric outcome measurement. Outcomes and Measures: Twenty-one outcome measures of daily living skills and socialization were identified and reviewed. RESULTS: Seven measures met the inclusion criteria. The Assessment of Motor and Process Skills and the Evaluation of Social Interaction-Second Edition, received the highest ratings and group consensus. Several other measures were also scored highly. CONCLUSIONS AND RELEVANCE: Careful assessment of psychometric properties is an important component of choosing outcome measures for a clinical trial, but burden of assessment and study objectives are important considerations. What This Article Adds: This project demonstrates use of a systematic process for choosing outcome measures for a planned clinical trial.


Assuntos
Transtorno Autístico , Criança , Humanos , Avaliação de Resultados em Cuidados de Saúde , Psicometria , Socialização
26.
Clin Ter ; 172(6): 577-590, 2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34821355

RESUMO

Background: Absolute pitch is the ability to identify a given note in the absence of a reference note. The prevalence of absolute pitch in autism is between 5% and 11% and autism involves notably enhanced abilities in pitch discrimination. Objectives: To summarize the evidence about the role and the meaning of these special skills in autism. Methods: Systematic electronic database searches were conducted using Pubmed, Scopus, Psycinfo, and Web of Science. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRI-SMA) guideline was followed, and, after thorough screening by two independent reviewers, 17 articles remained eligible for inclusion in this study. Results: We have two different groups of results. Eight case-control studies discuss pitch discrimination and autism. The second group included four case reports about autistic individuals with absolute pitch and five case-control studies. These results strongly suggest that music elicits special attention for children with autism, and taken together, this evidence supports a major frequency of AP in autistic children. Conclusion: Based on this evidence, future perspectives could include studies aiming to detect absolute pitch at an early age and to use this special skill to stimulate joint attention, as well as socio-communicative skills.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Música , Criança , Humanos , Idioma , Discriminação da Altura Tonal
27.
Lakartidningen ; 1182021 11 16.
Artigo em Sueco | MEDLINE | ID: mdl-34783001

RESUMO

Vitamin A deficiency and xerophthalmia is a rare finding in developed countries. We report a severe case of xerophthalmia in a 7-year-old autistic child with restricted diet. Both eyes had Bitot's spots and ulceration. The right cornea had a perforation at admission. After treatment with high doses of vitamin A the right cornea epithelialized with formation of the anterior chamber and the left eye healed completely. This case adds to the increasing number of reports on cases of xerophthalmia particularly in autistic children and highlights the importance of considering vitamin A deficiency in patients with risk of malnutrition also in developed countries.


Assuntos
Transtorno Autístico , Desnutrição , Deficiência de Vitamina A , Xeroftalmia , Transtorno Autístico/complicações , Transtorno Autístico/tratamento farmacológico , Criança , Humanos , Lactente , Vitamina A , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/diagnóstico , Deficiência de Vitamina A/tratamento farmacológico , Xeroftalmia/induzido quimicamente , Xeroftalmia/diagnóstico , Xeroftalmia/tratamento farmacológico
28.
Front Cell Infect Microbiol ; 11: 572752, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34790583

RESUMO

Background: Autism spectrum disorder (ASD) are complex behavioral changes manifesting early in childhood, which impacts how an individual perceives and socializes with others. The study aims to assess the disparities in gut microbiota (GM) amongst healthy controls and children with ASD. Methods: The study was performed on 25 children with ASD and 20 healthy children. Autistic symptoms were diagnosed and assessed with the Diagnostic and Statistical Manual for Mental Disorders and the Autism Treatment Evaluation Checklist (ATEC). Gastrointestinal (GI) symptoms were assessed with a GI Severity Index (GSI) questionnaire. The fecal bacteria composition was investigated by the high-throughput sequencing of the V3-V4 region of the 16S rRNA gene. The alpha diversity was estimated using the Shannon, Chao, and ACE indexes. The unweighted UniFrac analysis and the PCA plots were used to represent the beta diversity. LDA and LEfSe were used to assess the effect sizes of each abundant differential taxon. Results: Children with high GSI scores had much higher ATEC Total scores than those with lower GSI-scores. GI symptoms were strongly associated with symptoms of ASD. There was no difference in Chao, ACE, and Shannon indexes between ASD patients and healthy controls. Both groups showed a significant microbiota structure clustering in the plotted PCAs and significant differences in its composition at the family, order, genus, and phyla levels. There were also noteworthy overall relative differences in Actinobacteria and Firmicutes between both groups. Conclusions: This study shows the relationship between the clinical manifestations of Autistic symptoms and GI symptoms. ASD patients have dysbiosis of gut microbiota, which may be related to the onset of ASD. These findings may be beneficial for developing ASD symptoms by changing gut microbiota.


Assuntos
Transtorno do Espectro Autista , Microbioma Gastrointestinal , Microbiota , Criança , Disbiose , Humanos , RNA Ribossômico 16S/genética
29.
BMC Med Educ ; 21(1): 588, 2021 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-34801018

RESUMO

BACKGROUND: Lack of physicians' knowledge regarding mental health, including Autism Spectrum Disorder (ASD) could have adverse effects on affected individuals' health and quality of life. The purpose of this study was to provide construct validity for a modified questionnaire in order to determine the self-reported competency for underlying sub-constructs in ASD, make inferences on perceived competence in ASD based on a sample of Romanian physicians, and identify physicians' characteristics associated with these sub-domains of competency. METHODS: For this survey, we modified a questionnaire that was used in Pakistan and Turkey, and administered it to a sample of 383 practicing physicians in Romania to assess their perceived competency regarding ASD. Exploratory factor analysis on 12 knowledge questions revealed five sub-domains: stigma, potential causes, children's behavior, misconceptions, and educational needs associated with ASD knowledge. Using General Linear Models, we determined physicians' characteristics that predict the total competency score and various competency sub-scores. RESULTS: Seventy-five percent of the responding physicians were female and 30% had over 30 years practicing medicine. The majority (73-94%) of physicians have correctly responded to some basic questions regarding knowledge about ASD. We also found that younger physicians were more knowledgeable about potential causes of ASD than older physicians (Adjusted Mean Score (AMS): 2.90 vs. 2.18, P < 0.01), while older physicians knew more about the behavior of children with ASD (AMS: 0.64 vs. 0.37, P = 0.02). We found a significant interaction (P < 0.01) between television as source of ASD knowledge and city where the clinic is located in relation to knowledge of the physicians regarding stigma related to ASD. However, the total score was not associated with the variables associated with sub-domains. CONCLUSION: Using factor analysis, we demonstrated construct validity of five sub-domains related to Romanian physicians' knowledge about ASD that include stigma, potential causes, behavior in ASD children, special education needs, and misconceptions related to ASD. The lack of significant association of the knowledge of physicians on ASD neither with the Psychiatry nor the Pediatric ward rotations at medical school may support the need for improving the curriculum on ASD in Romanian medical schools.


Assuntos
Transtorno do Espectro Autista , Médicos , Transtorno do Espectro Autista/diagnóstico , Criança , Feminino , Humanos , Qualidade de Vida , Romênia , Autorrelato
30.
BMC Psychol ; 9(1): 182, 2021 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-34802470

RESUMO

BACKGROUND: Autism Spectrum disorder (ASD) has uniquely stigmatizing aspects because children with ASD have no physical markers of their condition. Parents are usually blamed and judgment from others is often internalized (felt stigma). AIM: This study was conducted to determine knowledge about ASD, negative experiences (enacted stigma), internalization of stigma (felt or self stigma) and its correlates among parents of children with ASD in Lagos, Nigeria. METHODS: This was a cross-sectional study of 230 parents in Lagos, Nigeria employing mixed-method data collection methods. Quantitative data were collected using a structured interviewer-administered questionnaire and analyzed with Epi- Info™ version 7.0 statistical package. Data were summarized with proportions, mean and standard deviation. Chi square and Spearman's correlation tests were done, and the level of significance was pre-determined at 5% (p < 0.05). In-depth interviews were also conducted among six parents to further explore the topic. The interviews were analyzed narratively. RESULTS: The proportion of mothers and fathers were 175 (76.1%) and 55 (23.9%) respectively. The mean age of respondents was 42 ± 8.5 years. Overall knowledge of ASD was very poor as only 3(1.3%) had good knowledge. Overall, 122(53%) usually had negative experience of parenting a child with ASD (enacted stigma), mothers (17.1%) more than fathers (9.1%). Majority 192(83.5%) internalized stigma. There was a low-moderate correlation between 'enacted' stigma and 'internalized' stigma (ρ- 0.400, p < 0.001). From in-depth interviews, many parents revealed that their child's condition had negative effects on the family. Many also recounted negative experience of stigma. CONCLUSION: Overall, parents of children with ASD had poor knowledge of the condition. Majority internalized stigma and this increases with negative treatment from others. Parents should be properly educated about ASD. Community-based education to increase awareness about ASD in addition to encouraging people to show empathy and reduce stigmatizing behaviour towards parents of children with ASD are recommended.


Assuntos
Transtorno do Espectro Autista , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Nigéria , Pais , Estigma Social
31.
J Am Acad Audiol ; 32(6): 379-385, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34731905

RESUMO

BACKGROUND: Neurological, structural, and behavioral abnormalities are widely reported in individuals with autism spectrum disorder (ASD); yet there are no objective markers to date. We postulated that by using dominant and nondominant ear data, underlying differences in auditory evoked potentials (AEPs) between ASD and control groups can be recognized. PURPOSE: The primary purpose was to identify if significant differences exist in AEPs recorded from dominant and nondominant ear stimulation in (1) children with ASD and their matched controls, (2) adults with ASD and their matched controls, and (3) a combined child and adult ASD group and control group. The secondary purpose was to explore the association between the significant findings of this study with those obtained in our previous study that evaluated the effects of auditory training on AEPs in individuals with ASD. RESEARCH DESIGN: Factorial analysis of variance with interaction was performed. STUDY SAMPLE: Forty subjects with normal hearing between the ages of 9 and 25 years were included. Eleven children and 9 adults with ASD were age- and gender-matched with neurotypical peers. DATA COLLECTION AND ANALYSIS: Auditory brainstem responses (ABRs) and auditory late responses (ALRs) were recorded. Adult and child ASD subjects were compared with non-ASD adult and child control subjects, respectively. The combined child and adult ASD group was compared with the combined child and adult control group. RESULTS: No significant differences in ABR latency or amplitude were observed between ASD and control groups. ALR N1 amplitude in the dominant ear was significantly smaller for the ASD adult group compared with their control group. Combined child and adult data showed significantly smaller amplitude for ALR N1 and longer ALR P2 latency in the dominant ear for the ASD group compared with the control group. In our earlier study, the top predictor of behavioral improvement following auditory training was ALR N1 amplitude in the dominant ear. Correspondingly, the ALR N1 amplitude in the dominant ear yielded group differences in the current study. CONCLUSIONS: ALR peak N1 amplitude is proposed as the most feasible AEP marker in the evaluation of ASD.


Assuntos
Transtorno do Espectro Autista , Estimulação Acústica , Adolescente , Adulto , Criança , Potenciais Evocados Auditivos , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Adulto Jovem
32.
Res Dev Disabil ; 119: 104120, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34736105

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong disorder, beginning in early childhood, which often accompanies with several healthcare challenges. There is a need for consistent and continued healthcare services throughout the life of an individual with ASD. The majority of previous studies have examined healthcare services in children with ASD and there is limited evidence about healthcare needs of adults with ASD. OBJECTIVE: The aim of this project was to capture the experiences of stakeholders including adults with ASD in receiving healthcare services. METHOD: We interviewed 22 stakeholders, including adults with ASD (n = 13), parents of adults with ASD (n = 5), and service providers (n = 4). Open-ended questions were used to explore their experiences with the healthcare system. We analysed the data thematically to develop the overarching themes. RESULTS: Three themes emerged from interviews including a) availability and accessibility of healthcare services, b) provision of quality healthcare and service delivery, and c) striving for better health outcomes. CONCLUSION: This study found that many adults with ASD can experience a continued lack of access to services and the care they receive is often of limited quality. The unmet healthcare needs lead stakeholders to feel stress, frustration, exhaustion, and possible burnout. The detrimental cost of limited services not only impacts adults with ASD but also their caregivers.


Assuntos
Transtorno do Espectro Autista , Adulto , Transtorno do Espectro Autista/terapia , Cuidadores , Criança , Pré-Escolar , Atenção à Saúde , Serviços de Saúde , Humanos , Pais
33.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1194-1198, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839505

RESUMO

OBJECTIVE: To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene. METHODS: Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction. RESULTS: All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored de novo variants of the FOXP1 gene, namely c.613_c.614delCTinsTA, c.1248delC and c.1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c.613_c.614delCTinsTA and c.1248delC were unreported previously. CONCLUSION: For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c.613_ c. 614delCTinsTA, c.1248delC and c.1393A>G variants of the FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype-phenotype profile of FOXP1 deficiency syndrome.


Assuntos
Transtorno Autístico , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Transtorno Autístico/genética , Criança , Fatores de Transcrição Forkhead/genética , Testes Genéticos , Humanos , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Proteínas Repressoras/genética , Sequenciamento Completo do Exoma
34.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(12): 1228-1232, 2021 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-34839513

RESUMO

OBJECTIVE: To study the genetic variants of a child with Autism Spectrum Disorder (ASD) combined with epilepsy, and explore its possible pathogenic mechanism. METHODS: Clinical data of the child were collected and evaluated, whole-exome sequencing (WES) technology was used to explore the genetic variants sites of the child and his parents and candidate genes were filtered out. Sanger sequencing were performed to verify the variants identified by WES and PolyPhen2 was utilized to predict the function of these variants. qPCR was carry out to determine the expression of the variant gene. RESULTS: The proband carried a compound heterozygous mutation in the SIK3 gene (Chr11 q23.3, NM_025164.6), which contains a missense mutation c.1295A>G (p.N432S) inherited from the father and a deletion [c.2389_2391del(p.797del)] inherited from the mother. Both mutation sites are highly conservative, and PolyPhen2 predicted (c.1295A>G [p.N432S]) to be harmful. Compared to the mother, expression of SIK3in mRNA level in the peripheral blood of the proband and his father were both significantly decreased; compared to normal child, SIK3 expression in the peripheral blood of the proband and two other children with ASD were all decreased significantly too. In addition, studies on mice found that Sik3 gene has a marked higher level of expression in the brain. CONCLUSION: The SIK3 gene variants may probably be associated with ASD. The detailed mechanism needs to be studied further, which may involve lipid metabolism dysfunction in the brain.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Animais , Transtorno do Espectro Autista/genética , Epilepsia/genética , Camundongos , Mutação , Mutação de Sentido Incorreto , Proteínas Serina-Treonina Quinases/genética , Sequenciamento Completo do Exoma
35.
Sheng Wu Gong Cheng Xue Bao ; 37(11): 3757-3780, 2021 Nov 25.
Artigo em Chinês | MEDLINE | ID: mdl-34841782

RESUMO

The human intestinal flora is a highly diverse ecosystem composed of trillions of bacteria. The imbalance of the flora is related to a variety of diseases. The intestinal flora interacts with the nervous system bidirectionally in many ways through the gut-brain axis. It causes neuroimmune inflammatory response, dysfunction of gut mucosa and blood-brain barrier, direct stimulation of the vagus nerve, spinal nerve of the enteric nervous system, and the neuroendocrine hypothalamus-pituitary-adrenal axis, causing neurological disorders. The metabolites of the intestinal microbial community also play a role. This article summarizes the characteristics of the altered intestinal flora and intervention measures in autism spectrum disorder, multiple sclerosis, Parkinson's disease, epilepsy, Guillain-Barré syndrome, Alzheimer's disease, neuromyelitis optica, hepatic encephalopathy, amyotrophic lateral sclerosis, schizophrenia, depression, chronic fatigue syndrome, Huntington's disease and stroke. The current research on intestinal flora is still in its infancy, and very few studies were carried out on causality and the underlying mechanisms, which prevents the development of precise flora-based clinical intervention measures. It is expected the research on intestinal flora would lead to novel approaches for treatment of some neurological disorders.


Assuntos
Transtorno do Espectro Autista , Microbioma Gastrointestinal , Microbiota , Doenças do Sistema Nervoso , Encéfalo , Humanos
36.
Rev Med Liege ; 76(10): 761-767, 2021 Oct.
Artigo em Francês | MEDLINE | ID: mdl-34632747

RESUMO

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental trouble characterized by deficits in communication and social interactions associated with restricted and repetitive behaviour, interests and activities. Given the heterogeneity of the disorder and the absence of biomarker, its diagnostic approach must be comprehensive and multidisciplinary, according to international classifications. The aetiology of ASDs remains mostly unknown and results from a multifactorial model. This document offers guidelines to standardize practices and optimize the exploration of children with autism.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico , Criança , Comunicação , Família , Humanos
37.
Health Psychol ; 40(8): 556-568, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34618502

RESUMO

OBJECTIVES: Although the health consequences of life stress exposure in the general population are well known, how different stressors occurring over the lifetime cause morbidity and mortality in autism is unclear, as are the factors that moderate and mediate these associations. The few studies that have compared autistic and nonautistic individuals have used instruments that yield few stress exposure indices and assess stressors occurring over short time periods. METHOD: To address these issues, we used the Stress and Adversity Inventory to assess lifetime stressor exposure and perceived stressor severity in 127 autistic and 104 nonautistic adults. Moderated mediation analysis examined associations between stressor exposure and physical and mental ill-health with respect to the hypothesized mediating role of stressor perception, and moderation effects of loneliness and social support. RESULTS: Autistic adults experienced more lifetime stressors and generally perceived stressors as being more severe. Greater perceived stressor severity was related to poorer physical and mental health and to greater loneliness and lower social support for both groups. An additional post hoc analysis of the association between diagnostic status and mental ill-health revealed that loneliness mediated the relation between being autistic and having poorer mental health. CONCLUSION: Autistic individuals experienced more lifetime stressors, and their impact on physical and mental health was mediated by perceived stressor severity. Moreover, loneliness and low social support were associated with greater negative impact of lifetime stress exposure on mental health. Interventions that reduce cognitive-perceptual stress appraisals, and that target loneliness and social support, may help reduce risk for stress-related disease in autistic individuals. (PsycInfo Database Record (c) 2021 APA, all rights reserved).


Assuntos
Transtorno Autístico , Adulto , Transtorno Autístico/epidemiologia , Humanos , Solidão , Saúde Mental , Apoio Social , Estresse Psicológico/epidemiologia
38.
J Neurodev Disord ; 13(1): 44, 2021 10 08.
Artigo em Inglês | MEDLINE | ID: mdl-34625016

RESUMO

BACKGROUND: Adults with autism spectrum disorder (ASD) have lower engagement in their communities, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior compared to their neurotypical peers. Multi-family psychoeducation emphasizes education and problem-solving with the goal of improving these outcomes for the individual with the disability. METHODS: Using a randomized waitlist control design, the present study evaluated a multi-family group psychoeducation intervention, Working Together, for adults on the autism spectrum without intellectual disability (n = 40). Five waves of data were collected at 3-month intervals. In this design, families in the intervention condition participated in intervention during the 6 months between baseline and time 3 data collection; the waitlist control condition received the intervention immediately after the time 3 data collection. We compared these two conditions, intervention group (n = 20) vs waitlist control group (n = 20), on key outcomes for the adults with ASD: engagement in work-related activities, engagement in meaningful activities, and behavior problems. RESULTS: Results indicated medium to large effect sizes associated with the Working Together intervention across key outcomes, including adults on the spectrum experiencing significant increases in meaningful activities and decreases in internalizing problems. Although increases in work-related activities were not statistically significant, an observed one-half of a standard deviation difference from before to after the intervention indicated clinically significant change. We also found maintenance of the treatment effect through 6 months post-treatment for the intervention group and replication of the treatment effect within the control group after they received the intervention. CONCLUSION: Working Together is a promising multi-family group psychoeducation intervention designed to improve functioning during adulthood. These findings highlight the need for more intervention services research during adulthood and specifically the need for family-centered supports.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Adulto , Transtorno do Espectro Autista/terapia , Humanos
39.
J Neurodev Disord ; 13(1): 46, 2021 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-34635048

RESUMO

BACKGROUND: Anxiety disorders are highly prevalent in children and adolescents with autism spectrum disorder and often emerge before the age of 6 years. Yet, only a few studies have examined anxiety treatment for this group. Preliminary evidence from these studies suggests that utilizing cognitive behavioral therapy (CBT) as well as strategies to target intolerance of uncertainty (IU) and parental accommodation, known mechanistic and maintaining factors of anxiety may improve anxiety and optimize outcomes in this age group. MAIN BODY: To meet this need, we developed an integrated treatment called DINO Strategies for Anxiety and intolerance of Uncertainty Reduction (DINOSAUR), a 12-week group telehealth treatment for 4- to 6-year-old children with ASD. DINOSAUR works with young children and their parents to deliver CBT along with interventions targeting IU and parental accommodation. In this paper, we first discuss the rationale for developing this treatment and then describe a pilot study of its feasibility and preliminary efficacy. CONCLUSIONS: There is a great need to develop anxiety treatments for young children with ASD. We proposed a novel integrated treatment approach that aims to alter the way young children and parents respond to fear, which could potentially improve short- and long-term mental health outcomes for this age group. TRIAL REGISTRATION: ClinicalTrials.gov NCT04432077 on June 03, 2020.


Assuntos
Transtorno do Espectro Autista , Terapia Cognitivo-Comportamental , Dinossauros , Animais , Ansiedade/complicações , Ansiedade/terapia , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/terapia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/terapia , Cognição , Projetos Piloto , Incerteza
40.
Int J Mol Sci ; 22(19)2021 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-34639097

RESUMO

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with extensive genetic and aetiological heterogeneity. While the underlying molecular mechanisms involved remain unclear, significant progress has been facilitated by recent advances in high-throughput transcriptomic, epigenomic and proteomic technologies. Here, we review recently published ASD proteomic data and compare proteomic functional enrichment signatures with those of transcriptomic and epigenomic data. We identify canonical pathways that are consistently implicated in ASD molecular data and find an enrichment of pathways involved in mitochondrial metabolism and neurogenesis. We identify a subset of differentially expressed proteins that are supported by ASD transcriptomic and DNA methylation data. Furthermore, these differentially expressed proteins are enriched for disease phenotype pathways associated with ASD aetiology. These proteins converge on protein-protein interaction networks that regulate cell proliferation and differentiation, metabolism, and inflammation, which demonstrates a link between canonical pathways, biological processes and the ASD phenotype. This review highlights how proteomics can uncover potential molecular mechanisms to explain a link between mitochondrial dysfunction and neurodevelopmental pathology.


Assuntos
Transtorno do Espectro Autista/patologia , Metilação de DNA , Epigênese Genética , Regulação da Expressão Gênica , Redes Reguladoras de Genes , Proteoma , Transcriptoma , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/metabolismo , Humanos , Fenótipo , Mapas de Interação de Proteínas
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