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1.
Bull Appl Transgend Stud ; 3(1-2): 69-97, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39007095

RESUMO

Trans people are at significantly elevated risk of suicide death, suicide attempts, and suicidal ideation than their cisgender peers. Suicide prevention efforts are needed that address the most important issues to the trans community. In this qualitative study conducted in the United States in 2021, we aimed to broadly explore trans community member perspectives on suicidality and suicide prevention needs. We conducted four virtual focus groups-including one exclusively for trans people of color. We also solicited additional online responses to the same focus group questions. A total of 56 trans individuals with a history of suicidality participated. We utilized reflexive thematic analysis to develop themes to inform suicide prevention efforts for the trans community. The themes were multicontextual, representing needs across healthcare, legal and political arenas, workplaces, community groups, and interpersonal relationships. The central organizing theme identified as crucial for suicide prevention was 'Having (Real) Rights and Respect.' Supporting themes were 'Being in Control of Our Own Bodies,' 'Being Safe as Ourselves,' and 'Feeling Support and Acceptance,' which also included a subtheme of 'Embracing Diversity within the Trans Community.' We provide suggestions and directions for suicide prevention, which build on these themes.

2.
Autism Res ; 17(5): 898-905, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38429939

RESUMO

Understanding suicide risk is critical for supporting prevention. A growing body of evidence shows autistic people are at greater risk for multiple suicide-related outcomes than non-autistic people. This commentary is in response to an observed pattern of miscommunication in scientific and community spaces about autistic females having higher risk of suicide. However, it is not always clear who they are being compared with in these statements. To address this confusion, we summarize the current population-based evidence on autistic suicide risk, highlighting findings related to sex similarities and differences, which actually indicates comparable rates of suicide death among autistic males and females, and mixed findings related to sex differences in risk of other suicidal behaviors. We call for greater clarity in suicide risk communication moving forward focused on outcomes, measurement, sampling methods, and comparison groups to reflect accurate conclusions about existing evidence. Further research is needed about the full range of suicide-related outcomes for autistic people, including a greater understanding of sex differences as well as potential gender differences to include transgender and nonbinary autistic people. However, studies of sex and gender differences should not overshadow the compelling need for efforts to understand and address the elevated risk of suicidal thoughts, behaviors, and death among autistic people across sex and gender boundaries.


Assuntos
Prevenção do Suicídio , Suicídio , Humanos , Feminino , Suicídio/estatística & dados numéricos , Suicídio/psicologia , Masculino , Transtorno Autístico , Fatores Sexuais , Fatores de Risco
3.
Int J Qual Stud Health Well-being ; 19(1): 2296694, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38213230

RESUMO

PURPOSE: The purpose of this study was to understand the lived experiences of family caregivers who provide care to individuals across a broad range of ages, caregiving relationships, and health conditions and/or disabilities. Family caregiver research is typically siloed by health condition or by caregiving relationship, leaving gaps in understanding similarities and differences among caregivers. METHODS: We hosted three virtual focus groups with diverse family caregivers (n = 26) caring for an individual with a long-term disability and/or health condition(s). We conducted a qualitative thematic analysis using an iterative, inductive process. RESULTS: Participants primarily expressed shared experiences, despite having unique caregiving situations. We identified themes among a) caregiver experiences: Trying to Do It All, Balancing Complex Emotions, Managing Expectations, and Adjusting to Changes Over Time and b) caregiver needs: Longing for Breaks and Self-Care; Lacking Help, Support and Resources; and Desiring Understanding and Recognition. CONCLUSIONS: These findings emphasize that many elements of the caregiving experience transcend care recipient age, condition, and relationship and are applicable to clinicians, researchers, and policy makers. The evidence of shared caregiver experiences can guide efficiencies in policy and practice (e.g., pooling of existing resources, expansion of interventions) to meet the needs of a broader population of caregivers.


Assuntos
Cuidadores , Longevidade , Humanos , Cuidadores/psicologia , Família/psicologia , Emoções , Autocuidado , Pesquisa Qualitativa
4.
JAMA Netw Open ; 6(10): e2337679, 2023 10 02.
Artigo em Inglês | MEDLINE | ID: mdl-37831452

RESUMO

Importance: People with disability are at heightened risk for suicide ideation, planning, and attempt, with risk growing as the number of disabling limitations increases. Military veterans have higher rates of suicide deaths and disability relative to nonveterans. Objective: To evaluate whether veteran status is associated with greater risk for suicide in those with disability. Design, Setting, and Participants: This survey study used cross-sectional self-reported data from US adults who participated in the 2015-2020 National Survey on Drug Use and Health. Data were weighted to represent the population. Data analysis was conducted from July to August 2022. Main Outcomes and Measures: Suicide ideation, planning, and attempt served as primary outcomes. Disability status (present or absent) and number of disabling limitations (1, 2, or ≥3) served as factors. Veteran status was determined based on self-report (veteran or nonveteran). Multivariable logistic regression examined suicide ideation, planning, and attempt as a function of veteran status and disability variables. Results: Participants included 231 099 US veterans and nonveterans, representing 236 551 727 US adults, of whom 20.03% (weighted n = 47 397 876) reported a disabling limitation, 8.92% were veterans (weighted n = 21 111 727; 16.0% aged 35-49 years; 91.0% men; 6.7% Hispanic; 10.9% non-Hispanic Black; and 78.4% non-Hispanic White) and 91.08% were nonveterans (weighted n = 215 440 000; 25.4% aged 35-49 years; 44.0% male; 16.5% Hispanic; 11.7% non-Hispanic Black; and 63.3% non-Hispanic White). Overall, 4.39% reported suicide ideation, planning, or attempt (weighted n = 10 401 065). Among those with no disability, veteran status was associated with higher risk of suicide planning (adjusted odds ratio [AOR], 1.71; 95% CI, 1.17-2.49). Among those with 1 or 2 disabling limitations, being a veteran was associated with a lower risk of suicide planning (AOR, 0.57; 95% CI, 0.34-0.95) and history of attempt (AOR, 0.46; 95% CI, 0.24-0.88). Conclusions and Relevance: In this study of how suicide risk differs as a function of disability and veteran status, risk for death by suicide was lower among veterans with disability relative to nonveterans with disability. Veteran status may mitigate risk for suicide given increased receipt of more disability-related care through the Department of Veterans Affairs. Further research would extend this line of inquiry by examining the cause and type of disability as well as perceptions of disability on self-worth. It is possible that physical wounds of war are protective because of the meaning and value of service to one's country.


Assuntos
Pessoas com Deficiência , Veteranos , Adulto , Humanos , Masculino , Feminino , Estudos Transversais , Fatores de Risco , Ideação Suicida
5.
Pediatrics ; 152(1)2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-37345494

RESUMO

OBJECTIVES: The study objectives were to examine the contents of individualized education programs (IEPs) of adolescents with autism spectrum disorder (ASD), including postsecondary transition goals, services, and changes in special education classification over time. METHODS: This study involved a longitudinal population-based surveillance cohort from the Autism Developmental Disabilities Monitoring Network from 2002 to 2018 in 3 catchment areas in the United States. The sample included 322 adolescents who were born in 2002, identified with ASD, and had an IEP available for review at ages 15-16 years. RESULTS: We found that 297 (92%) adolescents with ASD had an IEP including a transition plan. Those without intellectual disability (ID) were more likely to have postsecondary education and employment goals and have those goals be to pursue higher education or competitive employment compared with those with ID. Forty-one percent of adolescents with ASD had a postsecondary living arrangement goal. Although 28% of adolescents with ASD received school-based mental health services, none of these adolescents were Black; additionally, 15% of those with ID received mental health services compared with 34% without ID. The percentage of adolescents with ASD served under an autism classification increased from 44% at age 8 years to 62% by age 16. CONCLUSIONS: We identified gaps and disparities in school-based postsecondary transition planning. Working with education partners, families, and adolescents will be important to identify what challenges contribute to these findings and what supports are needed to improve the equity and quality of the transition planning process for adolescents with ASD so they are prepared for adulthood.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Deficiência Intelectual , Humanos , Adolescente , Estados Unidos , Adulto Jovem , Adulto , Criança , Transtorno do Espectro Autista/terapia , Transtorno do Espectro Autista/epidemiologia , Educação Inclusiva , Vigilância da População , Emprego
6.
Am J Occup Ther ; 77(2)2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36996455

RESUMO

Research has indicated a high prevalence of mental health problems among autistic people, with elevated rates of depression, anxiety, and suicidality. The profession of occupational therapy has its roots in mental health and can offer a unique focus on occupation to support the mental health needs of autistic clients. In this Guest Editorial we introduce articles for this special issue of the American Journal of Occupational Therapy related to autism and mental health and use the Person-Environment-Occupation Model. The articles offer insights into how interactions among person, environment, and occupation factors affect the mental health of autistic populations and demonstrate ways that mental health can be supported through occupational engagement. Opportunities to support the mental health of autistic people include promoting engagement in meaningful activities, supporting individual strengths, and bolstering clients' sense of self and identification with their autistic identity. Future research is needed to uncover and test interventions to support autistic clients and should reflect cultural humility and participatory approaches. We chose to use identity-first language (rather than person-first language) to describe the autistic community in this Guest Editorial out of respect for common community member preferences and in accordance with recommendations for anti-ableist language use (Bottema-Beutel et al., 2021). Decisions about language for each article in this special issue were made by the respective authors.


Assuntos
Transtorno Autístico , Terapia Ocupacional , Humanos , Transtorno Autístico/psicologia , Saúde Mental , Transtornos de Ansiedade , Ansiedade
7.
J Autism Dev Disord ; 2022 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-36441431

RESUMO

Early differences in sensory responsiveness may contribute to difficulties with communication among autistic children; however, this theory has not been longitudinally assessed in infants at increased familial versus general population-level likelihood for autism (Sibs-autism vs. Sibs-NA) using a comprehensive battery of sensory responsiveness and communication. In a sample of 40 infants (20 Sibs-autism, of whom six were later diagnosed with autism; 20 Sibs-NA), we tested (a) associations between sensory responsiveness at 12-18 months and communication 9 months later and (b) evaluated whether such associations were moderated by sibling group, autism diagnosis, or age. We found negative zero-order correlations between sensory responsiveness (i.e., caregiver reported hyperresponsiveness and hyporesponsiveness; an observational measure of hyperresponsiveness) and later communication. Additionally, caregiver reported sensory seeking was negatively associated with later expressive communication only in Sibs-NA. Limitations include our relatively small sample size of infants diagnosed with autism. Implications for future research are discussed.

8.
J Psychiatr Res ; 153: 213-222, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35841817

RESUMO

While research on suicidal behavior for people with disability (PWD) suggests they experience higher risk than people without disability, less is known about variations among individuals with different disability types. This nationally representative, cross-sectional study compared differences in suicide-related outcomes (ideation, planning, attempts) among PWD by functional disability type (hearing, vision, cognitive, mobility, complex activity) and number. Secondary analysis of adult PWD in the 2015-2019 National Survey on Drug Use and Health (unweighted N = 35,544; representing 47,723,378 PWD, weighted) was used to estimate relationships between suicide-related outcomes and disability type and number. Most respondents were female (55.9%), and 36.0% were aged ≥65 years. Adjusted odds ratios (AORs) from multivariable logistic regression indicated that suicidal ideation and suicide attempt, respectively, were significantly more likely among individuals with cognitive (AOR = 1.71, 95% CI = 1.24-2.35; AOR = 2.54, 95% CI = 1.31-4.91), complex activity (AOR = 1.96, 95% CI = 1.37-2.81; AOR = 2.67, 95% CI = 1.32-5.41), and ≥2 limitations (AOR = 2.02, 95% CI = 1.52-2.69; AOR = 3.46, 95% CI = 1.84-6.50) than hearing limitation. Also, relative to other disability types, suicide-related outcomes were significantly more likely among individuals with cognitive limitation and complex activity limitation (p < 0.001). Additionally, suicide-related outcomes elevated in likelihood as the number of limitations increased, with the largest associations among those with ≥5 limitations for suicidal ideation (AOR = 2.31, 95% CI = 1.46-3.66), suicide planning (AOR = 3.34, 95% CI = 1.97-5.68), and suicide attempt (AOR = 6.37, 95% CI = 3.76-10.79). Subgroup analyses showed that presence of cognitive limitation and multiple limitations differentiated between suicidal ideators and suicide attempters. Further research is needed to identify causes of these risks and develop suicide prevention efforts for these particularly vulnerable groups.


Assuntos
Pessoas com Deficiência , Transtornos Relacionados ao Uso de Substâncias , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Ideação Suicida , Tentativa de Suicídio
9.
Autism Adulthood ; 4(1): 32-41, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35663130

RESUMO

Introduction: The expectations individuals hold about the future can influence the decisions they make toward achieving their goals. Existing research suggests parents of autistic adolescents hold expectations about the future that are significantly related to the postsecondary outcomes they achieve. However, less research exists about the adolescents' own expectations and the extent to which autistic adolescents and their parents agree about the future. Methods: We used a scoring procedure to "quantitize" semi-structured interview data about what 46 adolescent-parent dyads envisioned for the future of the autistic adolescent across three areas of adulthood (postsecondary education, employment, and living situation). Adolescents ranged in age from 13-19 years (85.1% male) and were able to participate in a verbal interview. We scored the dyads' interviews on the extent to which they agreed or disagreed about the postsecondary future of the adolescent, as well as whose expectations were higher (when they differed). Results: Proportions of agreement and disagreement did not significantly differ, demonstrating moderate agreement. Notably, fewer than half (37.0-47.8%) of adolescents and their parents partly or strongly agreed about their visions for the future in each of the three areas. Only 17.4% of dyads partly or strongly agreed across all three areas, and 23.9% did not agree in any area. When adolescents' and parents' views differed, adolescents were significantly more likely to have a higher expectation across all three areas (ps < 0.01). Conclusions: Future research is needed to examine differences in autistic adolescents' and parents' visions of the future, and to explore interventions to support families to work toward shared goals for the future. This study contributes to a growing body of literature emphasizing the importance of including the perspectives of autistic adolescents in research and for them to have an active and substantial role in their own transition planning.

10.
Autism Res ; 15(4): 751-760, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35040592

RESUMO

Sensory features (i.e., atypical responses to sensory stimuli) are included in the current diagnostic criteria for autism spectrum disorder. Yet, large population-based studies have not examined these features. This study aimed to determine the prevalence of sensory features among autistic children, and examine associations between sensory features, demographics, and co-occurring problems in other areas. Analysis for this study included a sample comprised of 25,627 four- or eight-year-old autistic children identified through the multistate Autism and Developmental Disabilities Monitoring Network (2006-2014). We calculated the prevalence of sensory features and applied multilevel logistic regression modeling. The majority (74%; 95% confidence interval: 73.5%-74.5%) of the children studied had documented sensory features. In a multivariable model, children who were male and those whose mothers had more years of education had higher odds of documented sensory features. Children from several racial and ethnic minority groups had lower odds of documented sensory features than White, non-Hispanic children. Cognitive problems were not significantly related to sensory features. Problems related to adaptive behavior, emotional states, aggression, attention, fear, motor development, eating, and sleeping were associated with higher odds of having documented sensory features. Results from a large, population-based sample indicate a high prevalence of sensory features in autistic children, as well as relationships between sensory features and co-occurring problems. This study also pointed to potential disparities in the identification of sensory features, which should be examined in future research. Disparities should also be considered clinically to avoid reduced access to supports for sensory features and related functional problems. LAY SUMMARY: In a large, population-based sample of 25,627 autistic children, 74% had documented differences in how they respond to sensation. We also identified significant associations of sensory features with adaptive behavior and problems in other domains. Sensory features were less common among girls, children of color, and children of mothers with fewer years of education, suggesting potential disparities in identification.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/epidemiologia , Transtorno Autístico/epidemiologia , Criança , Etnicidade , Feminino , Humanos , Masculino , Grupos Minoritários , Vigilância da População/métodos , Prevalência
11.
J Autism Dev Disord ; 52(9): 4044-4055, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34528163

RESUMO

Knowledge is needed about specific supports and barriers for successful transitions to adulthood for autistic youth, especially from the perspective of parents, who are highly involved in transition preparation. We conducted a qualitative thematic analysis of previously conducted semi-structured interviews with 39 parents of 41 autistic adolescents to identify themes related to supports and barriers; we then used Bronfenbrenner's Ecological System's Theory to aid in interpreting the themes. We identified three main supports and four main barriers to the transition to adulthood from the parent interviews. The supports and barriers represent factors to consider at each theorized ecological level. Results point to opportunities to promote person-environment fit and support the transition to adulthood for autistic youth at multiple system levels.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Adolescente , Adulto , Humanos , Pais , Pesquisa Qualitativa
12.
Disabil Rehabil ; 44(19): 5592-5602, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34251954

RESUMO

PURPOSE: To explore the processes of community reintegration of children and families at least one year following a paediatric brain injury from the perspective of caregivers and outpatient/community service providers. MATERIALS AND METHODS: A qualitative analysis of semi-structured interviews from outpatient or community service providers (N = 14; occupational, physical, and speech and language therapists, neuropsychologists, school counsellors, recreational providers) and caregivers of six children (N = 8) at least one year after their injury. Interviews were transcribed and thematically coded using deductive (employing Bronfenbrenner's ecological systems theory) and inductive approaches. RESULTS: Themes from both providers and caregivers indicated additional supports needed at all levels of Bronfenbrenner's ecological systems theory (i.e., individual, microsystem, mesosystem/exosystem, macrosystem, chronosystem). Participants felt that several characteristics would be needed in an ideal service system following paediatric brain injury including: community solutions ("it takes a village"), long-term approaches to care, and new financial approaches. CONCLUSIONS: The results suggest that children and families have substantial community reintegration needs following paediatric brain injury. Multi-system interventions are needed to support long-term community reintegration, especially those that increase communication and support transitions. There is also a strong need for alternative funding to support these efforts.Implications for RehabilitationFamilies with a child with a moderate to severe brain injury face challenges with community reintegration a year or more after their child's injury.Effort should be put into helping families navigate the complex medical, insurance, and school systems with a navigator service and step-down care to ensure a continuum of care and to support community reintegration.Special support should be provided during transitions, such as transitions from hospital care to outpatient care, and across school transitions.


Assuntos
Lesões Encefálicas , Cuidadores , Criança , Comunicação , Família , Necessidades e Demandas de Serviços de Saúde , Humanos , Pesquisa Qualitativa
13.
Am J Occup Ther ; 75(3)2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-34781348

RESUMO

IMPORTANCE: Parents play an essential role in the transition to adulthood for autistic youth, yet often feel they do not have adequate training and resources. OBJECTIVE: To evaluate data on the preliminary efficacy of and collect participant feedback about the Maximizing Adolescent Post-Secondary Success (MAPSS) intervention. DESIGN: Single-group, pretest-posttest pilot study. SETTING: Clinic. PARTICIPANTS: Twenty-two families of autistic youth (ages 13-19 yr, 72.7% male). INTERVENTION: MAPSS is a group intervention for parent-youth dyads that is designed to guide parents in facilitating the development of independent skills for adulthood. Outcomes and Measures: Measures included the Transition Preparation Activities Measure (T-PAM), Family Empowerment Scale (FES), 10-item Perceived Stress Scale (PSS-10), Adulthood Expectations Questionnaire (AEQ), Adaptive Behavior Assessment System-Third Edition (ABAS-3), and a study-specific participant feedback survey. RESULTS: Frequency of transition preparation activities (T-PAM) significantly increased from before to after the intervention, and although the frequency of preparation activities decreased by 1-mo follow-up, it remained significantly higher than at baseline. Parent self-efficacy (FES), parent expectations (AEQ), and parent sense of control over outcomes (AEQ) also significantly increased from preintervention to follow-up; however, parent coping (PSS-10) was unchanged. Youth self-care skills (ABAS-3) demonstrated improvements 6 mo after the completion of the intervention, although other areas of adaptive behavior did not significantly change. Feedback from parents suggested they had positive experiences and felt the intervention was beneficial. CONCLUSIONS AND RELEVANCE: Our data suggest that the MAPSS intervention is an appropriate candidate for larger, controlled clinical trials. What This Article Adds: With additional evidence, this intervention can offer guidelines for occupational therapists to work with autistic youth and their parents to prepare for adulthood.


Assuntos
Transtorno Autístico , Adolescente , Adulto , Feminino , Humanos , Masculino , Pais , Projetos Piloto , Inquéritos e Questionários , Adulto Jovem
14.
Am J Prev Med ; 61(6): 852-862, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34465506

RESUMO

INTRODUCTION: Although research has analyzed the sociodemographic and socioeconomic risks for suicide, only recently has suicide risk for people with disabilities been examined. This study investigates the associations between disability and distinct suicide-related outcomes, including suicidal ideation, suicide planning, and suicide attempt. METHODS: This nationally representative, cross-sectional study comprised secondary analyses of the 2015-2019 National Survey on Drug Use and Health conducted in 2020 (N=198,640, representing 229,556,289 U.S. adults). Disability status comprised the presence of any disability; hearing, vision, mobility, cognitive, complex activity, or ≥2 limitations; and 1, 2, 3, 4, or ≥5 limitations. Suicide-related outcomes in the past year included none, suicidal ideation only, suicide planning, and suicide attempt. Multivariable logistic regression was applied to estimate the AORs. RESULTS: Overall, 19.8% reported any disability. Results showed that people with disabilities were significantly more likely than those without disabilities to report suicidal ideation (AOR=2.13, 95% CI=1.93, 2.36), suicide planning (AOR=2.66, 95% CI=2.27, 3.11), and suicide attempt (AOR=2.47, 95% CI=2.05, 2.98). Furthermore, individuals within each limitation count group were significantly more likely than people without disabilities to report suicide-related outcomes (p<0.001), with the largest magnitudes among those with ≥5 limitations for suicidal ideation (AOR=3.80, 95% CI=2.32, 6.23), suicide planning (AOR=6.45, 95% CI=3.52, 11.80), and suicide attempt (AOR=8.19, 95% CI=4.45, 15.07). CONCLUSIONS: People with various types of functional disabilities had an elevated risk for suicide-related outcomes, compared with people without disabilities. The more limitations a person had progressively increased their risk. These findings call for focused attention to the mental health of people with disabilities, including suicide prevention efforts that accommodate their needs.


Assuntos
Pessoas com Deficiência , Ideação Suicida , Adulto , Estudos Transversais , Humanos , Fatores de Risco , Tentativa de Suicídio
15.
Intellect Dev Disabil ; 59(4): 315-334, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34284492

RESUMO

The development of self-determination is promoted by supportive contexts during adolescence; families are a key part of this context. In adolescent populations, research suggests families can support self-determination in a number of ways, yet less is known about how self-determination is promoted within families of youth with intellectual and developmental disabilities (IDD). To address this knowledge gap, we conducted a scoping review to examine the existing evidence pertaining to the role families of youth with IDD play in supporting the development of self-determination. A review of 24 publications revealed that existing research has focused on understanding family perspectives on self-determination, but there is a lack of studies investigating how families provide supports for self-determination in the home context for youth with IDD. Additionally, little intervention work has focused on supporting families to promote self-determination. Based on the findings, implications for future research and practice are provided.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Adolescente , Criança , Relações Familiares , Promoção da Saúde , Humanos , Autonomia Pessoal
16.
Am J Med Genet B Neuropsychiatr Genet ; 186(8): 508-520, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34042246

RESUMO

Identification of genetic factors leading to increased risk of suicide death is critical to combat rising suicide rates, however, only a fraction of the genetic variation influencing risk has been accounted for. To address this limitation, we conducted the first comprehensive analysis of rare genetic variation in suicide death leveraging the largest suicide death biobank, the Utah Suicide Genetic Risk Study (USGRS). We conducted a single-variant association analysis of rare (minor allele frequency <1%) putatively functional single-nucleotide polymorphisms (SNPs) present on the Illumina PsychArray genotyping array in 2,672 USGRS suicide deaths of non-Finnish European (NFE) ancestry and 51,583 NFE controls from the Genome Aggregation Database. Secondary analyses used an independent control sample of 21,324 NFE controls from the Psychiatric Genomics Consortium. Five novel, high-impact, rare SNPs were identified with significant associations with suicide death (SNAPC1, rs75418419; TNKS1BP1, rs143883793; ADGRF5, rs149197213; PER1, rs145053802; and ESS2, rs62223875). 119 suicide decedents carried these high-impact SNPs. Both PER1 and SNAPC1 have other supporting gene-level evidence of suicide risk, and psychiatric associations exist for PER1 (bipolar disorder, schizophrenia), and for TNKS1BP1 and ESS2 (schizophrenia). Three of the genes (PER1, TNKS1BP1, and ADGRF5), together with additional genes implicated by genome-wide association studies on suicidal behavior, showed significant enrichment in immune system, homeostatic and signal transduction processes. No specific diagnostic phenotypes were associated with the subset of suicide deaths with the identified rare variants. These findings suggest an important role for rare variants in suicide risk and implicate genes and gene pathways for targeted replication.


Assuntos
Predisposição Genética para Doença , Suicídio , Estudo de Associação Genômica Ampla , Humanos , Proteínas Nucleares/genética , Proteínas Circadianas Period/genética , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Proteína 1 de Ligação a Repetições Teloméricas/genética , Fatores de Transcrição/genética
17.
J Speech Lang Hear Res ; 64(6): 1964-1976, 2021 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-34003699

RESUMO

Purpose Differences in communication development impact long-term outcomes of children with autism. Previous research has identified factors associated with communication in children with autism, but much of the variance in communication skill remains unexplained. It has been proposed that early differences in sensory responsiveness (i.e., hyporesponsiveness, hyperresponsiveness, and sensory seeking) may produce "cascading effects" on communication. Evidence for this theory is limited, however, as relations between sensory responsiveness and communication in the earliest stages of development have not been well established. The purpose of this study was to evaluate (a) whether infants with a heightened likelihood of autism diagnosis (i.e., infants with an older sibling with autism) differ from infants at general population-level likelihood of autism (i.e., infants with an older, nonautistic sibling) on patterns of sensory responsiveness, (b) whether early sensory responsiveness is correlated with concurrent communication, and (c) whether the aforementioned between-groups differences and associations are moderated by age. Method Participants were 40 infants (20 infants with an older sibling with autism, 20 infants with an older, nonautistic sibling) aged 12-18 months. A series of observational and parent report measures of sensory responsiveness and communication skill were administered. Results Group differences in sensory responsiveness across the 12- to 18-month period were limited (i.e., only observed for one measure of hyporesponsiveness), though selected differences in sensory responsiveness (i.e., parent-reported hyperresponsiveness and sensory seeking) emerged between groups over this developmental window. Parent-reported hyporesponsiveness was unconditionally, negatively associated with communication skills. Associations between expressive communication and (a) parent-reported sensory seeking and (b) an observational measure of hyperresponsiveness were moderated by age. Conclusions This study provides new insights into the nature of sensory responsiveness and theorized links with communication skill in infants at elevated and general population-level likelihood of autism diagnosis. Further work is needed to better characterize the effects of interest in a larger sample spanning a wider age range. Supplemental Material https://doi.org/10.23641/asha.14515542.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Criança , Desenvolvimento Infantil , Comunicação , Humanos , Lactente , Irmãos
20.
Autism Adulthood ; 3(3): 238-246, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-36605373

RESUMO

Background: Research about the experience of sexuality and intimacy for autistic people has largely excluded the potential influences of autistic sensory features, which are highly common. The aim of this study was to explore how autistic sensory features influence autistic people's experiences of sexuality and relationships, including the impact of low and high neurological threshold sensory patterns and regarding specific sensory modalities. Methods: Utilizing a qualitative approach, we explored autistic people's perspectives about the influences of sensory features on their experiences of sexuality and relationships through existing publicly available narratives (5 books and 13 online forums containing messages from 72 unique usernames) and responses to an open-ended survey question (N = 49). We used deductive coding based on Dunn's model of sensory processing, as well as inductive coding to identify additional themes about autistic sensory features and sexuality. Results: Our findings indicated that sexual and relationship experiences were related to both sensory sensitivity and sensation seeking (i.e., low and high threshold sensory patterns) across several sensory modalities, including touch, sight, sound, and smell. Sensory features influenced autistic people's sexual and relationship experiences in both positive and negative ways. Examined narratives revealed adaptations and strategies used by autistic people to enhance or enable engagement in sexual activity as well as implications for their sexual identity. Conclusions: Sensory features and their impact on the sexuality and relationship experiences of autistic people should be considered in clinical practice and educational programming. More research is needed to further understand the impact of autistic sensory features on experiences of sexuality and relationships, and to develop effective strategies to promote safe and satisfying engagement, when desired. Lay summary: Why was this study done?: Autistic people often respond to sensations differently than other people, including being more sensitive to sensations and/or wanting more intense sensations (called "autistic sensory features" in this study). Many aspects of sexuality and relationships involve sensory input. However, we do not know much about how autistic sensory features influence sexuality and relationships for autistic people.What was the purpose of this study?: The purpose of this study was to explore how autistic sensory features influence autistic people's experiences of sexuality and relationships.What did the researchers do?: For this study, we used two different sources of data. The first was existing publicly available things written by autistic people, including books and posts on online forums. The second was answers provided on a survey question asking about autistic sensory features and sexuality. Overall, we looked at things written by over 120 autistic people. We reviewed all the information to explore what kinds of sensory responses (e.g., sensitivities and sensation seeking) and sensory modalities (e.g., touches, sights, sounds, and smells) they wrote about. We also looked more generally to see how autistic people described the ways that autistic sensory features influenced their sexuality and relationship experiences.What were the results of the study?: Our findings show that in the information we accessed, autistic people did write about how sensory features influence their sexual and relationship experiences. Some people who have sensory sensitivities described confusion, distress, and frustration with sexual experiences. Despite wanting to participate, people with sensitivities described negative reactions to many of the sights, sounds, smells, and textures that were involved in dating and sexual activities. Other people indicated that they avoided sexual activity because of their sensory features. However, we also found that some autistic people seek out more intense sensations in their sexual activities, and others that enjoy intimacy that promotes calming and self-regulation. People wrote about strategies they use in response to their autistic sensory features, such as communication with partners and the use of substances to dull sensations.What do these findings add to what was already known?: There has not been much published research on this topic, so this study is a starting place. In books, as well as in online discussion boards, autistic people have been discussing the importance of sensory features to their sexuality and relationships. We accessed that information, and used theory and clinical experience to analyze their writings and help identify what other research is needed.What are potential weaknesses in the study?: We used text already written by autistic people and responses on one survey question for this study. Therefore, we may not have gained a complete understanding of the ways that autistic sensory features influence sexuality and relationship experiences.How will these findings help autistic adults now or in the future?: This study contributes to greater understanding of how autistic traits affect sexuality and relationships for autistic people. That information can be used to develop effective education and resources for autistic people, families, and service providers.

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