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1.
BMC Public Health ; 24(1): 222, 2024 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-38238734

RESUMO

BACKGROUND: Many people suffer from body and breath malodour syndromes. One of these is trimethylaminuria, a condition characterized by excretion in breath and bodily fluids of trimethylamine, a volatile and odorous chemical that has the smell of rotting fish. Trimethylaminuria can be primary, due to mutations in the gene encoding flavin-containing monooxygenase 3, or secondary, due to various causes. To gain a better understanding of problems faced by United Kingdom residents affected by body and breath malodour conditions, we conducted a survey. METHODS: Two anonymous online surveys, one for adults and one for parents/guardians of affected children, were conducted using the Opinio platform. Participants were invited via a trimethylaminuria advisory website. Questions were a mix of dropdown, checkbox and open-ended responses. Forty-four adults and three parents/guardians participated. The dropdown and checkbox responses were analysed using the Opinio platform. RESULTS: All participants reported symptoms of body/breath odour. However, not all answered every question. Twenty-three respondents experienced difficulties in being offered a diagnostic test for trimethylaminuria. Problems encountered included lack of awareness of the disorder by medical professionals and reluctance to recognise symptoms. Of those tested, 52% were diagnosed with trimethylaminuria. The main problems associated with living with body/breath malodours were bullying, harassment and ostracism in either the workplace (90%) or in social settings (88%). All respondents thought their condition had disadvantaged them in their daily lives. Open-ended responses included loss of confidence, stress, exclusion, isolation, loneliness, depression and suicidal thoughts. Respondents thought their lives could be improved by greater awareness and understanding of malodour conditions by medical professionals, employers and the general public, and appreciation that the malodour was due to a medical condition and not their fault. CONCLUSIONS: Breath and body malodour conditions can cause immense hardship and distress, both mentally and socially, having devastating effects on quality of life. It would be advantageous to establish a standardised pathway from primary care to a specialist unit with access to a robust and reliable test and diagnostic criteria. There is a need to recognise malodour disorders as a disability, giving affected individuals the same rights as those with currently recognised disabilities.


Assuntos
Erros Inatos do Metabolismo , Metilaminas/urina , Qualidade de Vida , Adulto , Criança , Animais , Humanos , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Odorantes , Ansiedade
2.
Autism ; 28(1): 123-137, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36588298

RESUMO

LAY ABSTRACT: Parents of autistic children and health professionals who work with autistic children in Brazil had positive views about introducing Paediatric Autism Communication Therapy as a therapy for autistic children in Brazil. The parents and clinicians also mentioned some difficulties about using Paediatric Autism Communication Therapy in Brazil. We made adaptations to Paediatric Autism Communication Therapy to address these difficulties. Paediatric Autism Communication Therapy is a therapy to support the development of social and communication skills for autistic children aged 2-10 years. The therapy is conducted with the autistic child's parent. Paediatric Autism Communication Therapy has not been used in Brazil before. There are few therapy options available for autistic children in Brazil and we believed that Paediatric Autism Communication Therapy may be useful. We asked three groups of people in Brazil about their views of Paediatric Autism Communication Therapy, after explaining how the therapy works. Group 1 included 18 parents of autistic children aged 2-10 years. Group 2 included 20 health professionals such as psychologists who work with autistic children. Group 3 included 15 parents of autistic children aged 2-7 years who received the Paediatric Autism Communication Therapy. We learned that parents and clinicians felt that Paediatric Autism Communication Therapy would be a beneficial therapy for autistic children in Brazil. We also found out about the challenges of using Paediatric Autism Communication Therapy in Brazil. We used these findings to make small cultural adaptations to Paediatric Autism Communication Therapy to make it more suitable for Brazil.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Criança , Transtorno Autístico/terapia , Estudos de Viabilidade , Brasil , Transtorno do Espectro Autista/terapia , Comunicação , Pais
3.
JCPP Adv ; 3(2): e12144, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37753147

RESUMO

Background: Attention-deficit/hyperactivity disorder (ADHD) is a prevalent, impairing, and highly heritable condition typically diagnosed in middle childhood. However, it is now recognized that symptoms emerge much earlier in development. Research focused on understanding-using multiple units of analysis-the cascade of early-life (i.e., prenatal-infant-toddler) developmental changes that will later emerge as ADHD has the potential to transform early identification, prevention, and intervention. To this end, we introduce the recently established Early ADHD Consortium, an international network of investigators engaged in prospective, longitudinal studies of risk for ADHD beginning early in life, conducted within a developmental framework, and which incorporate multimethod approaches. This network seeks to harmonize measures and methodological approaches to increase the potential for data sharing and subsequent impact. Methods: This perspective paper highlights the importance of investigating pre-diagnostic markers of ADHD, and potential models and mechanisms of ADHD risk and development, with the long-term objective of facilitating development of preemptive interventions that will minimize the impact of ADHD symptoms on everyday functioning and maximize health and developmental outcomes. Results: We selectively describe key challenges and questions for this field related to theoretical models and developmental mechanisms in ADHD and recommend next steps for the science, including methodological, measurement, and study design considerations. We then describe potential implications for preemptive intervention development. We conclude by considering other issues including ethical concerns and the critical value of incorporating stakeholder input. Conclusions: It is hoped that this perspective puts forth a research agenda that will enhance collaborative efforts and accelerate progress in understanding developmental mechanisms and the early ADHD phenotype, with implications for early intervention enhancement of healthy development for infants, young children, and their families.

4.
JCPP Adv ; 3(3): e12148, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37720589

RESUMO

Background: Self-injurious thoughts and behaviours (SITBs) have been associated with dysfunction of the Autonomic Nervous System (ANS) in children and young people, suggesting that objective ANS measures may aid assessment of suicide risk, but a systematic synthesis of this literature is currently lacking. Methods: Following a pre-registered protocol (PROSPERO CRD42022327605), we conducted a systematic search of PubMed, Medline, Embase, PsycINFO, and Web of Science, for empirical studies published until 10th May 2022 that compared indices of ANS functioning in individuals aged 0-25 years with versus without SITBs, or reported continuous associations between ANS measures and SITBs. Study quality was assessed with the Newcastle-Ottawa Scales. Pooled effect sizes (Hedge's g) were estimated with random-effects meta-analytic models. Results: Twenty studies (1979 participants) were included in our systematic review, with 16 included in meta-analyses. Results suggested that SITBs were associated with altered cardiac indices of arousal (g = -0.328, p < 0.001), which was driven by lower heart rate variability in individuals with SITBs (g = -0.375, p = 0.025). Overall results for electrodermal activity were not significant (g = 0.026, p = 0.857), but subgroup analyses showed increased activity in studies of individuals who engaged specifically in non-suicidal self-harm (g = 0.249, p = 0.014) but decreased activity in the remaining studies (g = -0.567, p = 0.004). Conclusions: Our systematic review and meta-analysis found evidence of reduced parasympathetic regulation as well as more tentative evidence of altered electrodermal activity in children and young people displaying SITBs. Future longitudinal studies should test the clinical utility of these markers for detecting and monitoring suicide risk.

5.
Am J Psychiatry ; 180(10): 755-765, 2023 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-37583326

RESUMO

OBJECTIVE: Previous population-based studies have identified associations between childhood neurodevelopmental traits and depression in childhood, adolescence, and young adulthood. However, neurodevelopmental traits are highly correlated with each other, which could confound associations when traits are examined in isolation. The authors sought to identify unique associations between multiple neurodevelopmental traits in childhood and depressive symptoms across development, while taking into account co-occurring difficulties, in multivariate analyses. METHODS: Data from two U.K. population-based cohorts, the Twins Early Development Study (TEDS) (N=4,407 independent twins) and the Avon Longitudinal Study of Parents and Children (ALSPAC) (N=10,351), were independently analyzed. Bayesian Gaussian graphical models were estimated to investigate pairwise conditional associations between neurodevelopmental traits (autism and ADHD symptoms and general cognitive, learning, and communication abilities), socioenvironmental stressors (academic performance and peer relations), and emotional dysregulation in childhood (ages 7-11) and depressive symptoms across development (ages 12, 16, and 21). RESULTS: In both cohorts, bivariate correlations indicated several associations between neurodevelopmental traits and depressive symptoms across development. However, based on replicated findings across cohorts, these pairs of variables were mostly conditionally independent, and none were conditionally associated, after accounting for socioenvironmental stressors and emotional dysregulation. In turn, socioenvironmental stressors and emotional dysregulation were conditionally associated with both neurodevelopmental traits and depressive symptoms. Based on replicated findings across cohorts, neurodevelopmental traits in childhood could be associated only indirectly with depressive symptoms across development. CONCLUSIONS: This study indicates that associations between childhood neurodevelopmental traits and depressive symptoms across development could be explained by socioenvironmental stressors and emotional dysregulation. The present findings could inform future research aimed at the prevention of depression in youths with neurodevelopmental disorders.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos do Neurodesenvolvimento , Criança , Adolescente , Humanos , Adulto Jovem , Adulto , Estudos Longitudinais , Depressão/epidemiologia , Teorema de Bayes , Transtornos do Neurodesenvolvimento/epidemiologia , Fenótipo , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/diagnóstico
6.
PLoS One ; 18(6): e0286692, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37267233

RESUMO

Flavin-containing monooxygenase 5 (FMO5) is a member of the FMO family of proteins, best known for their roles in the detoxification of foreign chemicals and, more recently, in endogenous metabolism. We have previously shown that Fmo5-/- mice display an age-related lean phenotype, with much reduced weight gain from 20 weeks of age. The phenotype is characterized by decreased fat deposition, lower plasma concentrations of glucose, insulin and cholesterol, higher glucose tolerance and insulin sensitivity, and resistance to diet-induced obesity. In the present study we report the use of metabolomic and transcriptomic analyses of livers of Fmo5-/- and wild-type mice to identify factors underlying the lean phenotype of Fmo5-/- mice and gain insights into the function of FMO5. Metabolomics was performed by the Metabolon platform, utilising ultrahigh performance liquid chromatography-tandem mass spectroscopy. Transcriptomics was performed by RNA-Seq and results analysed by DESeq2. Disruption of the Fmo5 gene has wide-ranging effects on the abundance of metabolites and expression of genes in the liver. Metabolites whose concentration differed between Fmo5-/- and wild-type mice include several saturated and monounsaturated fatty acids, complex lipids, amino acids, one-carbon intermediates and ADP-ribose. Among the genes most significantly and/or highly differentially expressed are Apoa4, Cd36, Fitm1, Hspa5, Hyou1, Ide, Me1 and Mme. The results reveal that FMO5 is involved in upregulating the NRF2-mediated oxidative stress response, the unfolded protein response and response to hypoxia and cellular stress, indicating a role for the enzyme in adaptation to oxidative and metabolic stress. FMO5 also plays a role in stimulating a wide range of metabolic pathways and processes, particularly ones involved in lipid homeostasis, the uptake and metabolism of glucose, the generation of cytosolic NADPH, and in one-carbon metabolism. The results predict that FMO5 acts by stimulating the NRF2, XBP1, PPARA and PPARG regulatory pathways, while inhibiting STAT1 and IRF7 pathways.


Assuntos
Fator 2 Relacionado a NF-E2 , Transcriptoma , Animais , Camundongos , Fator 2 Relacionado a NF-E2/metabolismo , Fígado/metabolismo , Estresse Oxidativo , Homeostase , Resposta a Proteínas não Dobradas , Glucose/metabolismo , Carboidratos , Carbono/metabolismo , Lipídeos , Metabolismo dos Lipídeos/genética
7.
BMJ Open ; 13(3): e065232, 2023 03 20.
Artigo em Inglês | MEDLINE | ID: mdl-36940950

RESUMO

INTRODUCTION: The UK has worse cancer outcomes than most comparable countries, with a large contribution attributed to diagnostic delay. Electronic risk assessment tools (eRATs) have been developed to identify primary care patients with a ≥2% risk of cancer using features recorded in the electronic record. METHODS AND ANALYSIS: This is a pragmatic cluster randomised controlled trial in English primary care. Individual general practices will be randomised in a 1:1 ratio to intervention (provision of eRATs for six common cancer sites) or to usual care. The primary outcome is cancer stage at diagnosis, dichotomised to stage 1 or 2 (early) or stage 3 or 4 (advanced) for these six cancers, assessed from National Cancer Registry data. Secondary outcomes include stage at diagnosis for a further six cancers without eRATs, use of urgent referral cancer pathways, total practice cancer diagnoses, routes to cancer diagnosis and 30-day and 1-year cancer survival. Economic and process evaluations will be performed along with service delivery modelling. The primary analysis explores the proportion of patients with early-stage cancer at diagnosis. The sample size calculation used an OR of 0.8 for a cancer being diagnosed at an advanced stage in the intervention arm compared with the control arm, equating to an absolute reduction of 4.8% as an incidence-weighted figure across the six cancers. This requires 530 practices overall, with the intervention active from April 2022 for 2 years. ETHICS AND DISSEMINATION: The trial has approval from London City and East Research Ethics Committee, reference number 19/LO/0615; protocol version 5.0, 9 May 2022. It is sponsored by the University of Exeter. Dissemination will be by journal publication, conferences, use of appropriate social media and direct sharing with cancer policymakers. TRIAL REGISTRATION NUMBER: ISRCTN22560297.


Assuntos
Medicina Geral , Neoplasias , Humanos , Análise Custo-Benefício , Diagnóstico Tardio , Resultado do Tratamento , Medição de Risco , Neoplasias/diagnóstico , Neoplasias/terapia , Ensaios Clínicos Controlados Aleatórios como Assunto
8.
Epilepsia ; 64(3): e30-e35, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36633094

RESUMO

The association between attention-deficit/hyperactivity disorder (ADHD) and tuberous sclerosis complex (TSC) is widely reported, with support for the role of epilepsy, yet the mechanisms underlying the association across development are unclear. The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of TSC. In Phase 1 of the study, baseline measures of epilepsy, cortical tuber load, and mutation were obtained with 125 children ages 0-16 years. In Phase 2, at an average of 8 years later, ADHD symptoms were measured for 81 of the participants. Structural equation modeling revealed an indirect pathway from genetic mutation, to cortical tuber load, to epileptic spasm severity in infancy, to ADHD symptoms in middle childhood and adolescence, in addition to a pathway linking current seizure severity to ADHD symptoms. Findings were retained when intelligence quotient (IQ) was entered as a correlated factor. The findings support a cascading developmental pathway to ADHD symptoms mediated by early-onset and severe epilepsy in the first 2 years of life. This warrants detailed investigation of seizure characteristics and cognitive and behavioral sequelae associated with ADHD from early in life, to further the understanding of the association between ADHD and early-onset epilepsy across syndromic and non-syndromic populations.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Epilepsia , Esclerose Tuberosa , Adolescente , Criança , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Esclerose Tuberosa/complicações , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Estudos Longitudinais , Estudos Prospectivos , Epilepsia/genética , Convulsões/complicações , Mutação
9.
BMC Prim Care ; 24(1): 23, 2023 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-36670354

RESUMO

BACKGROUND: Electronic clinical decision support tools (eCDS) are increasingly available to assist General Practitioners (GP) with the diagnosis and management of a range of health conditions. It is unclear whether the use of eCDS tools has an impact on GP workload. This scoping review aimed to identify the available evidence on the use of eCDS tools by health professionals in general practice in relation to their impact on workload and workflow. METHODS: A scoping review was carried out using the Arksey and O'Malley methodological framework. The search strategy was developed iteratively, with three main aspects: general practice/primary care contexts, risk assessment/decision support tools, and workload-related factors. Three databases were searched in 2019, and updated in 2021, covering articles published since 2009: Medline (Ovid), HMIC (Ovid) and Web of Science (TR). Double screening was completed by two reviewers, and data extracted from included articles were analysed. RESULTS: The search resulted in 5,594 references, leading to 95 full articles, referring to 87 studies, after screening. Of these, 36 studies were based in the USA, 21 in the UK and 11 in Australia. A further 18 originated from Canada or Europe, with the remaining studies conducted in New Zealand, South Africa and Malaysia. Studies examined the use of eCDS tools and reported some findings related to their impact on workload, including on consultation duration. Most studies were qualitative and exploratory in nature, reporting health professionals' subjective perceptions of consultation duration as opposed to objectively-measured time spent using tools or consultation durations. Other workload-related findings included impacts on cognitive workload, "workflow" and dialogue with patients, and clinicians' experience of "alert fatigue". CONCLUSIONS: The published literature on the impact of eCDS tools in general practice showed that limited efforts have focused on investigating the impact of such tools on workload and workflow. To gain an understanding of this area, further research, including quantitative measurement of consultation durations, would be useful to inform the future design and implementation of eCDS tools.


Assuntos
Sistemas de Apoio a Decisões Clínicas , Medicina Geral , Clínicos Gerais , Humanos , Medicina de Família e Comunidade , Encaminhamento e Consulta , Carga de Trabalho , Fluxo de Trabalho
10.
Eur Child Adolesc Psychiatry ; 32(6): 1083-1095, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35618973

RESUMO

Brazil has been severely affected by the COVID-19 pandemic with one of the largest numbers of youth impacted by school closure globally. This longitudinal online survey assessed emotional problems in children and adolescents aged 5-17 years living in Brazil during the COVID-19 pandemic. Recruitment occurred between June to November 2020 and participants were invited for follow-up assessments every 15 days until June 2021. Participants were 5795 children and adolescents living across the country with mean age of 10.7 (SD 3.63) years at recruitment; 50.5% were boys and 69% of white ethnicity. Weighted prevalence rates of anxiety, depressive and total emotional symptoms at baseline were 29.7%, 36.1% and 36%, respectively. Longitudinal analysis included 3221 (55.6%) participants and revealed fluctuations in anxiety and depressive symptoms during one year follow-up, associated with periods of social mobility and mortality. Emotional problems significantly increased in July and September 2020 and decreased from December 2020 to February 2021 and then significantly increased in May 2021 relative to June 2020. Older age, feeling lonely, previous diagnosis of mental or neurodevelopmental disorder, previous exposure to traumatic events or psychological aggression, parental psychopathology, and sleeping less than 8/h a day were associated with increased rates of anxiety and depressive symptoms at baseline and over time. Food insecurity and less social contact with family and peers were associated with baseline anxiety and depressive symptoms, and lowest socio-economic strata, chronic disease requiring treatment and family members physically ill due to COVID-19 were associated with increasing rates over time. The pandemic severely affected youth, particularly those from vulnerable populations and in moments of increased mortality and decreased social mobility. Results underscore the need for allocation of resources to services and the continuous monitoring of mental health problems among children and adolescents.


Assuntos
COVID-19 , Transtornos do Comportamento Infantil , Masculino , Humanos , Adolescente , Criança , Feminino , COVID-19/epidemiologia , Brasil/epidemiologia , Pandemias , Ansiedade/epidemiologia , Depressão/epidemiologia
13.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 44(5): 532-547, Sept.-Oct. 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1403775

RESUMO

Objective: Naturalistic and neurophysiological assessments are relevant as outcome measures in autism intervention trials because they provide, respectively, ecologically valid information about functioning and underlying neurocognitive mechanisms. We conducted a systematic review to highlight which specific neurophysiological techniques, experimental tasks, and naturalistic protocols have been used to assess neural and behavioral functioning in autism intervention studies. Methods: Studies were collected from four electronic databases between October 2019 and February 2020: MEDLINE (via PubMed), PsycINFO, LILACS, and Web of Science, and were included if they used structured observational, naturalistic, or neurophysiological measures to assess the efficacy of a nonpharmacological intervention for ASD. Results: Fourteen different measures were used by 64 studies, with the Autism Diagnostic Observation Schedule the most frequently used instrument. Thirty-seven different coding systems of naturalistic measures were used across 51 studies, most of which used different protocols. Twenty-four neurophysiological measures were used in 16 studies, with different experimental paradigms and neurophysiological components used across studies. Conclusions: Cross-study variability in assessing the outcomes of autism interventions may obscure comparisons and conclusions about how different behavioral interventions affect autistic social communication and underlying neurophysiological mechanisms.

14.
Front Physiol ; 13: 859681, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36003643

RESUMO

We previously showed that Fmo5 -/- mice exhibit a lean phenotype and slower metabolic ageing. Their characteristics include lower plasma glucose and cholesterol, greater glucose tolerance and insulin sensitivity, and a reduction in age-related weight gain and whole-body fat deposition. In this paper, nuclear magnetic resonance (NMR) spectroscopy-based metabolite analyses of the urine of Fmo5 -/- and wild-type mice identified two isomers of 2,3-butanediol as discriminating urinary biomarkers of Fmo5 -/- mice. Antibiotic-treatment of Fmo5 -/- mice increased plasma cholesterol concentration and substantially reduced urinary excretion of 2,3-butanediol isomers, indicating that the gut microbiome contributed to the lower plasma cholesterol of Fmo5 -/- mice, and that 2,3-butanediol is microbially derived. Short- and long-term treatment of wild-type mice with a 2,3-butanediol isomer mix decreased plasma cholesterol and epididymal fat deposition but had no effect on plasma concentrations of glucose or insulin, or on body weight. In the case of long-term treatment, the effects were maintained after withdrawal of 2,3-butanediol. Short-, but not long-term treatment, also decreased plasma concentrations of triglycerides and non-esterified fatty acids. Fecal transplant from Fmo5 -/- to wild-type mice had no effect on plasma cholesterol, and 2,3-butanediol was not detected in the urine of recipient mice, suggesting that the microbiota of the large intestine was not the source of 2,3-butanediol. However, 2,3-butanediol was detected in the stomach of Fmo5 -/- mice, which was enriched for Lactobacillus genera, known to produce 2,3-butanediol. Our results indicate a microbial contribution to the phenotypic characteristic of Fmo5 -/- mice of decreased plasma cholesterol and identify 2,3-butanediol as a potential agent for lowering plasma cholesterol.

15.
Neuroimage Clin ; 36: 103163, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36037661

RESUMO

Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of these symptom domains in tuberous sclerosis complex remain unclear. Here, we use fixel-based analysis of diffusion-weighted imaging, which allows for the differentiation between multiple fibre populations within a voxel, to compare white matter properties in 16 participants with tuberous sclerosis complex (aged 11-19) and 12 age and sex matched control participants. We further tested associations between white matter alterations and autism and inattention symptoms as well as cognitive ability in participants with tuberous sclerosis complex. Compared to controls, participants with tuberous sclerosis complex showed reduced fibre density cross-section (FDC) in the dorsal branch of right superior longitudinal fasciculus and bilateral inferior longitudinal fasciculus, reduced fibre density (FD) in bilateral tapetum, and reduced fibre cross-section (FC) in the ventral branch of right superior longitudinal fasciculus. In participants with tuberous sclerosis complex, the extent of FDC reductions in right superior longitudinal fasciculus was significantly associated with autism traits (social communication difficulties and restricted, repetitive behaviours), whereas FDC reductions in right inferior longitudinal fasciculus were associated with inattention. The observed white matter alterations were unrelated to cognitive ability. Our findings shed light on the fibre-specific biophysical properties of white matter alterations in tuberous sclerosis complex and suggest that these regional changes are selectively associated with the severity of neurodevelopmental symptoms.


Assuntos
Transtorno do Espectro Autista , Leucoaraiose , Esclerose Tuberosa , Substância Branca , Humanos , Substância Branca/diagnóstico por imagem , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/complicações , Cognição
16.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 44(4): 388-400, July-Aug. 2022. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1394068

RESUMO

Objective: Maternal attention-deficit/hyperactivity disorder has not been investigated in relation to parenting skills in adolescent mothers. This study investigated whether maternal inattention and hyperactivity/impulsivity symptoms early in pregnancy predict poorer parenting skills and infant maltreatment during the first year of life in adolescent mothers living in adverse environmental conditions. Methods: The participants in this study were 80 adolescent mothers aged 14-19 years and their babies who were taking part in a randomized controlled trial on the effects of a home-visiting program on infant development. Symptoms of maternal attention-deficit/hyperactivity disorder were assessed in the first trimester of pregnancy. Parenting skills (maternal competence, attachment to the baby, home environment) and child maltreatment were assessed when the infants were aged 6 and 12 months. Multilevel linear regression models were constructed to test the extent to which prenatal maternal inattention and hyperactivity/impulsivity symptoms predicted these parenting variables during the first year of the infant's life. Results: Prenatal inattention symptoms significantly predicted lower maternal competence and attachment, a poorer home environment, and greater maltreatment during the first year of life. Hyperactivity did not significantly predict parenting skills or maltreatment. Conclusions: Our findings suggest that inattention symptoms may interfere with parenting abilities in adolescent mothers and should be considered in early intervention programs.

18.
BMJ Open ; 12(6): e060101, 2022 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-35768084

RESUMO

OBJECTIVES: To conduct a systematic review and synthesise qualitative research of electronic risk assessment tools (eRATs) in primary care, examining how they affect the communication and understanding of diagnostic risk and uncertainty. eRATs are computer-based algorithms designed to help clinicians avoid missing important diagnoses, pick up possible symptoms early and facilitate shared decision-making. DESIGN: Systematic search, using predefined criteria of the published literature and synthesis of the qualitative data, using Thematic Synthesis. Database searches on 27 November 2019 were of MEDLINE, Embase, CINAHL and Web of Science, and a secondary search of the references of included articles. Included studies were those involving electronic risk assessment or decision support, pertaining to diagnosis in primary care, where qualitative data were presented. Non-empirical studies and non-English language studies were excluded. 5971 unique studies were identified of which 441 underwent full-text review. 26 studies were included for data extraction. A further two were found from citation searches. Quality appraisal was via the CASP (Critical Appraisal Skills Program) tool. Data extraction was via line by line coding. A thematic synthesis was performed. SETTING: Primary care. RESULTS: eRATs included differential diagnosis suggestion tools, tools which produce a future risk of disease development or recurrence or calculate a risk of current undiagnosed disease. Analytical themes were developed to describe separate aspects of the clinical consultation where risk and uncertainty are both central and altered via the use of an eRAT: 'Novel risk', 'Risk refinement', 'Autonomy', 'Communication', 'Fear' and 'Mistrust'. CONCLUSION: eRATs may improve the understanding and communication of risk in the primary care consultation. The themes of 'Fear' and 'Mistrust' could represent potential challenges with eRATs. TRIAL REGISTRATION NUMBER: CRD219446.


Assuntos
Atenção Primária à Saúde , Encaminhamento e Consulta , Eletrônica , Humanos , Pesquisa Qualitativa , Medição de Risco , Incerteza
19.
Braz J Psychiatry ; 44(4): 388-400, 2022 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-35751597

RESUMO

OBJECTIVE: Maternal attention-deficit/hyperactivity disorder has not been investigated in relation to parenting skills in adolescent mothers. This study investigated whether maternal inattention and hyperactivity/impulsivity symptoms early in pregnancy predict poorer parenting skills and infant maltreatment during the first year of life in adolescent mothers living in adverse environmental conditions. METHODS: The participants in this study were 80 adolescent mothers aged 14-19 years and their babies who were taking part in a randomized controlled trial on the effects of a home-visiting program on infant development. Symptoms of maternal attention-deficit/hyperactivity disorder were assessed in the first trimester of pregnancy. Parenting skills (maternal competence, attachment to the baby, home environment) and child maltreatment were assessed when the infants were aged 6 and 12 months. Multilevel linear regression models were constructed to test the extent to which prenatal maternal inattention and hyperactivity/impulsivity symptoms predicted these parenting variables during the first year of the infant's life. RESULTS: Prenatal inattention symptoms significantly predicted lower maternal competence and attachment, a poorer home environment, and greater maltreatment during the first year of life. Hyperactivity did not significantly predict parenting skills or maltreatment. CONCLUSIONS: Our findings suggest that inattention symptoms may interfere with parenting abilities in adolescent mothers and should be considered in early intervention programs.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Maus-Tratos Infantis , Adolescente , Criança , Educação Infantil , Cognição , Feminino , Humanos , Lactente , Mães , Poder Familiar , Gravidez
20.
Braz J Psychiatry ; 44(5): 532-547, 2022 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-35751600

RESUMO

OBJECTIVE: Naturalistic and neurophysiological assessments are relevant as outcome measures in autism intervention trials because they provide, respectively, ecologically valid information about functioning and underlying neurocognitive mechanisms. We conducted a systematic review to highlight which specific neurophysiological techniques, experimental tasks, and naturalistic protocols have been used to assess neural and behavioral functioning in autism intervention studies. METHODS: Studies were collected from four electronic databases between October 2019 and February 2020: MEDLINE (via PubMed), PsycINFO, LILACS, and Web of Science, and were included if they used structured observational, naturalistic, or neurophysiological measures to assess the efficacy of a nonpharmacological intervention for ASD. RESULTS: Fourteen different measures were used by 64 studies, with the Autism Diagnostic Observation Schedule the most frequently used instrument. Thirty-seven different coding systems of naturalistic measures were used across 51 studies, most of which used different protocols. Twentyfour neurophysiological measures were used in 16 studies, with different experimental paradigms and neurophysiological components used across studies. CONCLUSIONS: Cross-study variability in assessing the outcomes of autism interventions may obscure comparisons and conclusions about how different behavioral interventions affect autistic social communication and underlying neurophysiological mechanisms.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Transtorno Autístico/terapia , Transtorno do Espectro Autista/terapia , Transtorno do Espectro Autista/psicologia , Avaliação de Resultados em Cuidados de Saúde
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