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1.
Autism ; 28(6): 1591-1594, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38470140

RESUMO

LAY ABSTRACT: This letter discusses the origins of the concept and theory of neurodiversity. It is important to correctly attribute concept and theories to the people who developed them. For some time, the concept of neurodiversity has primarily been attributed to one person, Judy Singer. We consider the available evidence and show that the concept and theory in fact has multiple origins. We draw particular attention to recent archival findings that show the concept of 'neurological diversity' was being used years earlier than previously thought. 'Neurodiversity' means the same thing as 'neurological diversity' and does not change the theory in any way. We conclude that both the concept of neurological diversity or neurodiversity, and the body of theory surrounding it, should be understood as having been collectively developed by neurodivergent people.


Assuntos
Teoria Psicológica , Humanos , História do Século XX , Neurociências
2.
Eur J Med Genet ; 66(9): 104810, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37478903

RESUMO

Equitable and just genetic research and clinical translation require an examination of the ethical questions pertaining to vulnerable and marginalized communities. Autism research and advocate communities have expressed concerns over current practices of genetics research, urging the field to shift towards paradigms and practices that ensure benefits and avoid harm to research participants and the wider autistic community. Building upon a framework of bioethical principles, we provide the background for the concerns and present recommendations for ethically sustainable and justice-oriented genetic and genomic autism research. With the primary goal of enhancing the health, well-being, and autonomy of autistic persons, we make recommendations to guide priority setting, responsible research conduct, and informed consent practices. Further, we discuss the ethical challenges particularly pertaining to research involving highly vulnerable individuals and groups, such as those with impaired cognitive or communication ability. Finally, we consider the clinical translation of autism genetics studies, including the use of genetic testing. These guidelines, developed by an interdisciplinary working group comprising autistic and non-autistic individuals, will aid in leveraging the potential of genetics research to enhance the quality of life of autistic individuals and are widely applicable across stigmatized traits and vulnerable communities.


Assuntos
Transtorno Autístico , Humanos , Transtorno Autístico/genética , Qualidade de Vida , Consentimento Livre e Esclarecido , Testes Genéticos , Genômica
3.
Psychopharmacology (Berl) ; 235(11): 3137-3148, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30196397

RESUMO

RATIONALE: Standard therapeutic approaches to reduce social anxiety in autistic adults have limited effectiveness. Since 3,4-methylenedioxymethamphetamine (MDMA)-assisted psychotherapy shows promise as a treatment for other anxiety disorders, a blinded, placebo-controlled pilot study was conducted. OBJECTIVES: To explore feasibility and safety of MDMA-assisted psychotherapy for reduction of social fear and avoidance that are common in the autistic population. METHODS: Autistic adults with marked to very severe social anxiety were randomized to receive MDMA (75 to 125 mg, n = 8) or inactive placebo (0 mg, n = 4) during two 8-h psychotherapy sessions (experimental sessions) in a controlled clinical setting. Double-blinded experimental sessions were spaced approximately 1 month apart with 3 non-drug psychotherapy sessions following each. The primary outcome was change in Leibowitz Social Anxiety Scale (LSAS) Total scores from Baseline to one month after the second experimental session. Outcomes were measured again six months after the last experimental session. RESULTS: Improvement in LSAS scores from baseline to the primary endpoint was significantly greater for MDMA group compared to the placebo group (P = 0.037), and placebo-subtracted Cohen's d effect size was very large (d = 1.4, CI - 0.074, 2.874). Change in LSAS scores from baseline to 6-month follow-up showed similar positive results (P = 0.036), with a Cohen's d effect size of 1.1 (CI - 0.307, 2.527). Social anxiety remained the same or continued to improve slightly for most participants in the MDMA group after completing the active treatment phase. CONCLUSIONS: This pilot trial demonstrated rapid and durable improvement in social anxiety symptoms in autistic adults following MDMA-assisted psychotherapy. Initial safety and efficacy outcomes support expansion of research into larger samples to further investigate this novel treatment for social anxiety. TRIAL REGISTRATION: clinicaltrials.gov identifier, NCT02008396.


Assuntos
Ansiedade/terapia , Transtorno Autístico/terapia , N-Metil-3,4-Metilenodioxianfetamina/administração & dosagem , Psicoterapia/métodos , Serotoninérgicos/administração & dosagem , Adulto , Ansiedade/epidemiologia , Ansiedade/psicologia , Transtorno Autístico/epidemiologia , Transtorno Autístico/psicologia , Terapia Combinada/métodos , Método Duplo-Cego , Medo/efeitos dos fármacos , Medo/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Resultado do Tratamento
5.
Autism Adulthood ; 3(1): 5-10, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36601271
6.
Aust N Z J Public Health ; 34(2): 193-9, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23331365

RESUMO

OBJECTIVE: Maori women in New Zealand have higher incidence of and mortality from cervical cancer than non-Maori women, however limited research has examined differences in treatment and survival between these groups. This study aims to determine if ethnic disparities in treatment and survival exist among a cohort of Maori and non-Maori women with cervical cancer. METHODS: A retrospective cohort study of 1911 women (344 Maori and 1567 non-Maori) identified from the New Zealand Cancer Register with cervical cancer (adenocarcinoma, adenosquamous or squamous cell carcinoma) between 1 January 1996 and 31 December 2006. RESULTS: Maori women with cervical cancer had a higher receipt of total hysterectomies, and similar receipt of radical hysterectomies and brachytherapy as primary treatment, compared to non-Maori women (age and stage adjusted). Over the cohort period, Maori women had poorer cancer specific survival than non-Maori women (mortality hazard ratio (HR) 2.07, 95% confidence interval (CI): 1.63-2.62). From 1996 to 2005, the survival for Maori improved significantly relative to non-Maori. CONCLUSION: Maori continue to have higher incidence and mortality than non-Maori from cervical cancer although disparities are improving. Survival disparities are also improving. Treatment (as measured) by ethnicity is similar. IMPLICATIONS: Primary prevention and early detection remain key interventions for addressing Maori needs and reducing inequalities in cervical cancer in New Zealand.


Assuntos
Carcinoma/etnologia , Carcinoma/mortalidade , Disparidades em Assistência à Saúde/etnologia , Havaiano Nativo ou Outro Ilhéu do Pacífico/estatística & dados numéricos , Neoplasias do Colo do Útero/etnologia , Neoplasias do Colo do Útero/mortalidade , População Branca/estatística & dados numéricos , Adulto , Fatores Etários , Carcinoma/diagnóstico , Carcinoma/terapia , Intervalos de Confiança , Etnicidade , Feminino , Pesquisas sobre Atenção à Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Incidência , Pessoa de Meia-Idade , Nova Zelândia/epidemiologia , Vigilância da População , Pobreza , Sistema de Registros , Estudos Retrospectivos , Medição de Risco/estatística & dados numéricos , Fatores Socioeconômicos , Análise de Sobrevida , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/terapia
7.
Am J Med Genet B Neuropsychiatr Genet ; 141B(2): 155-9, 2006 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-16389590

RESUMO

Several lines of evidence support the involvement of the disrupted in schizophrenia 1 (DISC1) gene in schizophrenia susceptibility, including its original identification in a schizophrenia family with a chromosome translocation, several genetic association studies, and functional characterization of the gene product. In the present study, we have genotyped multiple SNP and microsatellite markers in a large Scottish case-control sample. We identified two SNPs and one microsatellite that show significant association with schizophrenia. The strongest association is with a haplotype of SNPs rs751229 and rs3738401, located at the 5' end of the gene; the C-A haplotype of these SNPs is associated with a relative risk of schizophrenia of 5 in our population. We also observe association with a microsatellite in intron 7, but no association with markers toward the 3' end of the gene. The results are in broad agreement with those of other genetic studies, but there are differences in terms of the precise patterns of association. This analysis further strengthens the candidacy of DISC1 as a risk factor for schizophrenia in the general population, and suggests that more intensive searching for causative variants is justified.


Assuntos
Proteínas do Tecido Nervoso/genética , Esquizofrenia/genética , Adolescente , Adulto , Idoso , Frequência do Gene , Predisposição Genética para Doença/genética , Genótipo , Haplótipos , Humanos , Repetições de Microssatélites , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Escócia
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