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1.
Autism ; : 13623613241227983, 2024 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-38340034

RESUMEN

LAY ABSTRACT: Autistic people are more likely to consider suicide than non-autistic people, with transition-aged youth (ages 16-21 years) at potentially the highest risk. Research has also shown that difficulties with executive functioning (e.g., difficulties with organization, sequencing, and decision-making) may heighten suicide risk among non-autistic people, but it is not clear whether this is also true for autistic people. This study explored this question by asking 183 transition-aged autistic youth about their experience with suicidal behavior and examining the relationship between their responses and additional measures of depression, autistic traits, and executive function skills. About one-third of autistic transition-aged youth (33.3%) said that they had experienced thoughts of hurting themselves with the intent to end their lives (i.e., suicidal ideation). Both depression and executive function challenges predicted suicide risk (i.e., participants who experienced depression were more likely to have had suicidal thoughts than those who had not, and participants who had more difficulty with executive function skills were more likely to have had suicidal thoughts than those who had less difficulty). These findings suggest that executive functioning, a common area of difficulty among autistic people, is an important indicator of suicide risk in this population.

2.
J Child Psychol Psychiatry ; 65(7): 973-983, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38181181

RESUMEN

BACKGROUND: Autism has been considered a 'male-dominant' condition. However, recent research suggests that autistic females are underdiagnosed, misdiagnosed, and later diagnosed. Females may also have different and more nuanced behavioral profiles. To examine diagnosis rates of females, we used 20 years of state-wide data to characterize historical trends in the diagnosis of autism in females to determine whether the proportion of females diagnosed with autism has changed over time. METHODS: Data were drawn from 10,247 participants (males = 8,319, females = 1928) who received an autism diagnosis between 2000 and 2021 from state-wide autism centers associated with the University of North Carolina TEACCH Autism Program. RESULTS: The rates of females diagnosed with autism increased at a greater rate compared with males. Age of diagnosis remained consistently higher for females. Late diagnosis (defined as 13+) increased over time across both males and females, however, was more commonly associated with females, particularly those with co-occurring intellectual disability. CONCLUSIONS: Our results indicate that the proportion of females diagnosed with autism has increased steadily over a 20-year period, which likely reflects greater societal knowledge of how autism may manifest differentially in females.


Asunto(s)
Trastorno del Espectro Autista , Humanos , Femenino , Masculino , Adolescente , Niño , Adulto , Adulto Joven , North Carolina/epidemiología , Preescolar , Factores Sexuales , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno Autístico/diagnóstico , Trastorno Autístico/epidemiología , Diagnóstico Tardío/estadística & datos numéricos
3.
Autism Adulthood ; 5(4): 347-355, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-38116052

RESUMEN

There is a growing population of autistic adults in need of supports from a service delivery system that, at present, fails to accommodate their needs adequately and equitably. Unfortunately, there is a shortage of trained behavioral health service providers to meet the needs of young autistic adults. Quality of life (QoL), or one's perception of, and satisfaction with, life in relation to held goals and expectations, has been identified as a key outcome of interest by autistic self-advocates. By supporting autistic clients to hone their strengths and interests, integrate various aspects of their identity, identify goals, and connect to appropriate resources, providers can promote clients' self-knowledge and self-determination, in the service of improving QoL. In this Perspectives article, we offer concrete recommendations to mental health providers, including those who do not specialize in autism, with the goal of supporting implementation of evidence-based strategies that improve QoL and promote self-determination among young autistic clients.


Why is this topic important?: Mental health care providers who are not autism specialists often feel unable to help autistic adult clients. However, relying on specialists to provide treatment for autistic adults can delay access to needed care. There is a need for well-trained clinicians and other service providers who can effectively work with autistic adults. What is the purpose of this article?: Young autistic adults face many challenges related to transition into adulthood, including greater independence desires and external expectations. The early adult years are also a period of heightened risk for emerging mental health problems. The goal of this article is to offer guidance to mental health service providers on how to effectively support autistic adults, while respecting autonomy, identity, and diversity. The guidance we offer is drawn from research, clinical practice, and lived experience. What personal or professional perspectives do the authors bring to this topic?: In addition to an autistic adult and self-advocate, the authors are clinical researchers and clinicians with expertise in working with adolescents and adults as service providers. What is already known about this topic?: Although a wider range of effective intervention practices is needed, there are a growing number of scientifically based and respectful treatments now available to address mental health concerns and promote quality of life (QoL). Unfortunately, it is widely recognized that there is a shortage of providers who work with autistic clients. One reason for the shortage is that some highly capable and well-trained providers do not treat autistic clients. What do the authors recommend?: We recommend that providers focus on strengths, abilities, and potential rather than focus on perceived deficits when working with autistic clients, so that we as a society can better meet the service needs of the autistic community. Specifically, we encourage a focus on improving QoL, structuring services to focus on self-determination and empowerment, emphasizing intersectionality or existence of multiple identities with personal meaning, and helping clients and their families navigate service systems and supports that are available. How will these recommendations help autistic adults now or in the future?: By increasing the number of providers who can work effectively work with adult autistic clients, we can hopefully minimize delays in service delivery and increase availability of high-quality services.

4.
Am J Occup Ther ; 77(2)2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37053433

RESUMEN

IMPORTANCE: Understanding the roles of caregivers of autistic adults is important given the increasing number of autistic adults and their ongoing need for various supports. OBJECTIVE: To address the following question: What roles do caregivers enact to support autistic adults? DESIGN: This study had a descriptive qualitative design. Caregivers completed a two-part interview. Data analyses included extracting narratives and a multiple-step coding process that resulted in the identification of three main caregiving themes. PARTICIPANTS: Thirty-one caregivers of autistic adults. FINDINGS: Three main themes that reflected caregiving roles were identified: (1) managing daily living needs, (2) obtaining services and supports, and (3) providing invisible supports. Each theme comprised three subthemes. The roles were enacted regardless of the autistic adults' age, gender, adaptive behavior scores, employment status, or residential status. CONCLUSIONS AND RELEVANCE: Caregivers enacted many roles to support their autistic adult to participate in meaningful occupation. Occupational therapy practitioners can support autistic people across the lifespan in areas such as daily living, leisure, and executive function strategies to decrease the need for caregiving or services. They can also support caregivers as they manage the present and plan for the future. What This Article Adds: This study provides descriptions that illustrate the complexity of caregiving for autistic adults. With an understanding of the many roles that caregivers enact, occupational therapy practitioners can provide services that support both autistic people and their caregivers. Positionality Statement: We recognize that use of person-first versus identity-first language is a source of debate and controversy. We have chosen to use identity-first language, for two reasons. First, studies indicate that person with autism is the term least preferred by autistic people (e.g., Botha et al., 2021). Second, autistic is the term used by the majority of our participants during interviews.


Asunto(s)
Trastorno Autístico , Terapia Ocupacional , Humanos , Adulto , Cuidadores , Adaptación Psicológica , Investigación Cualitativa
5.
J Cereb Blood Flow Metab ; 43(7): 1153-1165, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36809165

RESUMEN

The glymphatic system is a brain-wide waste drainage system that promotes cerebrospinal fluid circulation through the brain to remove waste metabolites. Currently, the most common methods for assessing glymphatic function are ex vivo fluorescence microscopy of brain slices, macroscopic cortical imaging, and MRI. While all these methods have been crucial for expanding our understanding of the glymphatic system, new techniques are required to overcome their specific drawbacks. Here, we evaluate SPECT/CT imaging as a tool to assess glymphatic function in different anesthesia-induced brain states using two radiolabeled tracers, [111In]-DTPA and [99mTc]-NanoScan. Using SPECT, we confirmed the existence of brain state-dependent differences in glymphatic flow and we show brain state-dependent differences of CSF flow kinetics and CSF egress to the lymph nodes. We compare SPECT and MRI for imaging glymphatic flow and find that the two imaging modalities show the same overall pattern of CSF flow, but that SPECT was specific across a greater range of tracer concentrations than MRI. Overall, we find that SPECT imaging is a promising tool for imaging the glymphatic system, and that qualities such as high sensitivity and the variety of available tracers make SPECT imaging a good alternative for glymphatic research.


Asunto(s)
Sistema Glinfático , Ratas , Animales , Encéfalo/irrigación sanguínea , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Tomografía Computarizada de Emisión de Fotón Único
6.
Child Psychiatry Hum Dev ; 54(6): 1789-1798, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-35678890

RESUMEN

Anxiety disorders occur at higher rates in youth with ASD than in neurotypical youth. Although the efficacy of CBT for anxiety in children with ASD is widely supported, factors that influence treatment outcomes are not well understood. This study examined the role of maternal anxiety in treatment outcomes for youth with ASD. Youth with ASD and anxiety (ages 8 to 14), along with their mothers (n = 87), participated in a group CBT intervention. Results indicated that maternal anxiety did not improve over the course of treatment. However, findings suggest that high levels of maternal anxiety at pre-treatment predicted higher levels of youth anxiety post-treatment. Importantly, the relationship between parent anxiety and youth outcomes was moderated by child age. The findings of the present study may provide initial insight into the role that maternal anxiety plays in treatment outcomes for children with ASD and co-occurring anxiety, particularly when considering child age.


Asunto(s)
Trastorno del Espectro Autista , Niño , Femenino , Humanos , Adolescente , Trastorno del Espectro Autista/terapia , Ansiedad/terapia , Trastornos de Ansiedad/terapia , Resultado del Tratamiento , Madres
7.
Autism Res ; 16(3): 605-616, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36513614

RESUMEN

Very little is known about autistic adults as they age. Early evidence suggests a potentially high risk for dementia and atypical cognitive decline in autistic middle and older age adults. Research in the general population indicates that self-reported cognitive decline may predict future dementia earlier than performance-based measures. Nevertheless, self-report dementia screeners have not been used to date in autism research. In a sample of middle and older age autistic adults (N = 210), participants completed a self-rated dementia screener, the AD8, to describe the rate of cognitive decline, examine associations of cognitive decline with age, educational level, sex designated at birth, and autistic traits, and document the psychometrics of a dementia screener in autistic adults. We found high rates of cognitive decline with 30% of the sample screening positive. The most common symptoms were declining interest in leisure activities, and increases in everyday problems with thinking, memory, and judgment. There was evidence that autistic individuals designated female at birth may be more vulnerable to cognitive decline than autistic individuals designated male at birth. Notably, reports of cognitive decline did not vary by age or educational level. Modestly elevated autistic traits were found in those screening positive versus negative for cognitive decline. Finally, the dementia screener showed good psychometrics, including convergent validity with an independent measure of current memory problems. These results could signal an emerging public health crisis in autistic adults as they age, and support the potential utility of self-report measures for early screening for cognitive decline in this population.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Disfunción Cognitiva , Demencia , Recién Nacido , Humanos , Masculino , Adulto , Femenino , Anciano , Autoinforme , Encuestas y Cuestionarios , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/epidemiología , Demencia/diagnóstico , Demencia/psicología
8.
iScience ; 25(10): 105250, 2022 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-36274948

RESUMEN

Intrathecal administration enables central nervous system delivery of drugs that do not bypass the blood-brain barrier. Systemic administration of hypertonic saline (HTS) enhances delivery of intrathecal therapeutics into the neuropil, but its effect on solute clearance from the brain remains unknown. Here, we developed a dynamic in vivo single-photon emission computed tomography (SPECT)/computed tomography (CT) imaging platform to study the effects of HTS on whole-body distribution of the radiolabeled tracer 99mTc-diethylenetriaminepentaacetic acid (DTPA) administered through intracisternal, intrastriatal, or intravenous route in anesthetized rats. Co-administration of systemic HTS increased intracranial exposure to intracisternal 99mTc-DTPA by ∼80% during imaging. In contrast, HTS had minimal effects on brain clearance of intrastriatal 99mTc-DTPA. In sum, SPECT/CT imaging presents a valuable approach to study glymphatic drug delivery. Using this methodology, we show that systemic HTS increases intracranial availability of cerebrospinal fluid-administered tracer, but has marginal effects on brain clearance, thus substantiating a simple, yet effective strategy for enhancing intrathecal drug delivery to the brain.

9.
Front Psychol ; 13: 876127, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35719479

RESUMEN

Background: Sensory processing differences have been shown to impact involvement in community activities. However, relatively little is known about how these differences affect community participation in autistic adults. Objective: The objective of this study was to explore how sensory processing patterns of autistic adults impact community participation, including where people go, what they do, the amount of time in the community, and preferred locations. Methods: We used data gathered from six autistic adults and their caregivers who participated in two studies. From Study 1, we reviewed results of the Adolescent and Adult Sensory Profile (AASP) and transcripts from interviews with caregivers. From Study 2, we reviewed GPS tracking data and transcripts from structured interviews with autistic adults focused on community participation. We read transcript data, identified quotes related to sensory processing and community participation and constructed individual participant narratives which linked findings from interviews, AASP, and GPS tracking. Results: Participants included three males and three females ranging in age from 29 to 51. Each participant had a unique sensory processing profile that influenced where they went, the activities in which they engaged, how much time they spent in the community, and their preferred locations. Those whose sensory processing patterns indicated sensory sensitivity and sensory avoiding described the experience of certain environments as overwhelming and fatiguing and thus spent less time in the community and visited fewer places than those with other sensory processing patterns. Conclusion: Results highlight the importance of sensory processing, especially as it impacts participation in the community. Sensory processing patterns should be considered along with other personal and contextual factors when assessing community participation and personal sensory processing patterns should be matched with activities and environmental demands.

10.
J Autism Dev Disord ; 52(9): 4067-4078, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34536165

RESUMEN

Self-determination refers to an individual's capacity and opportunities to act as a causal agent in their own lives to make choices, decisions, and set goals. The current study examined self- and parent-reports of the AIR Self-Determination Scale in transition-aged autistic youth (Based on stakeholder preferences, we use identity-first(autistic) or neutral language (on the autism spectrum) (Bottema-Beutel in JAMA 3:18-29, 2020)). Autistic youth completed depression and executive function measures, and parents rated their child's social-communication and executive function difficulties. Despite differences between youth and parent reports, both youth and their parents reported lower self-determination skills (capacity) than opportunities to practice self-determined behaviors. Both depression and executive function skills were related to self-determination capacity, highlighting potential intervention targets for transition-aged youth to facilitate increased self-determination and potentially improved adult outcomes.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Discapacidad Intelectual , Adolescente , Adulto , Anciano , Trastorno del Espectro Autista/diagnóstico , Trastorno Autístico/diagnóstico , Niño , Comunicación , Humanos , Discapacidad Intelectual/diagnóstico , Autonomía Personal
11.
Autism ; 26(2): 434-445, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34218685

RESUMEN

LAY ABSTRACT: Although many autistic individuals have additional mental health conditions, most have a hard time getting services from mental health providers. One reason why these services can be hard to access is that many mental health providers do not feel confident in their ability to provide services to autistic individuals. To share autism expertise with local community providers and boost their confidence in working with autistic individuals, we created a mental health version of the Extension for Community Healthcare Outcomes (Project ECHO) Autism virtual teleconsultation program. In this pilot study, we recruited 51 community mental health providers to participate in Project ECHO Autism. During each biweekly session, providers received information from autism experts about how to tailor mental health interventions (e.g. attention-deficit hyperactivity disorder or anxiety interventions) for use with autistic individuals. They also had the opportunity to ask questions and get advice on their current cases. At the end of the 6-month study, mental health providers showed improvements in their confidence, in their knowledge of autism, and in their problem-solving skills. Nearly half (45%) of these providers participated from rural counties, suggesting that the Project ECHO Autism teleconsultation model was able to reach mental health providers who might not have been able to get training otherwise. This study supports the feasibility of using Project ECHO Autism to share autism knowledge with mental health providers, consequently expanding mental health service options for autistic individuals with co-occurring mental health conditions.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Servicios Comunitarios de Salud Mental , Trastorno del Espectro Autista/terapia , Trastorno Autístico/terapia , Servicios de Salud Comunitaria , Humanos , Salud Mental , Proyectos Piloto
12.
J Neurodev Disord ; 13(1): 39, 2021 09 16.
Artículo en Inglés | MEDLINE | ID: mdl-34530736

RESUMEN

BACKGROUND: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. METHODS: We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. RESULTS: All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power-with the exception of isolated rare inherited pathogenic variants -does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. CONCLUSIONS: Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/genética , Trastorno Autístico/epidemiología , Trastorno Autístico/genética , Asesoramiento Genético , Humanos , Padres , Estudios Prospectivos
13.
J Autism Dev Disord ; 51(7): 2531-2537, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32939608

RESUMEN

A geographic information system (GIS) approach systematically assessed whether population density and distribution of community resources contributed to caregiver reported community participation outcomes for 124 adults with autism spectrum disorder (ASD). Regression analyses examined whether GIS measures predicted community participation in areas of social activities and use of services, while also accounting for adult age, conversation ability, and daily living skills (DLS). Results indicated that in addition to person factors of greater DLS and better conversation ability, access to specific community features, such as bus stops, contributed to improved participation. Unexpectedly, population density where one lived made minimal contribution to participation outcomes, except in getting together with friends outside of organized activities.


Asunto(s)
Trastorno del Espectro Autista/epidemiología , Participación de la Comunidad , Sistemas de Información Geográfica , Actividades Cotidianas , Adulto , Femenino , Humanos , Masculino
14.
J Clin Child Adolesc Psychol ; 50(4): 517-524, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33210939

RESUMEN

OBJECTIVE: The heterogeneous symptom presentation of autism spectrum disorder (ASD) requires clinicians to consider each child's unique constellation of symptoms and tailor intervention accordingly. Treatment moderators, though necessary to guide evidence-based treatment decisions, are significantly under-studied. This brief report aims to expand on previous literature by providing an overview of characteristics which may influence treatment outcome and specifying future directions to build on this preliminary evidence base. METHOD: A subset of treatment modalities was identified from the National Clearinghouse on Autism Evidence and Practice Review Team's most recent report including discrete trial early intensive behaviorally based treatment, social skills training, and cognitive behavioral interventions. Within these treatment modalities, individual interventions with significant support were specifically discussed. Due to the lack of research on treatment moderators, a discussion of significant predictors of treatment outcome is also included. RESULTS: Preliminary evidence suggests that overall, treatment intensity, duration, and parent involvement are the most consistently identified predictors (and in some studies, moderators) of treatment outcome; sessions which occur more frequently, continue for longer periods of time, and include parent training or coaching may yield the best outcomes. Other characteristics, including age and IQ, have been widely debated, with differing results found across treatment modalities. CONCLUSIONS: The sparsity of research demonstrates a clear need for continued research on moderators to guide clinical judgment. Future studies that recruit larger samples targeting specific ASD symptoms at specific ages may be more adequately powered to detect these moderating effects.


Asunto(s)
Trastorno del Espectro Autista/terapia , Adolescente , Trastorno Autístico/terapia , Niño , Terapia Cognitivo-Conductual , Humanos , Resultado del Tratamiento
15.
Autism ; 24(8): 2256-2268, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32744068

RESUMEN

LAY ABSTRACT: Self-report measures are frequently used for research and clinical assessments of adults with autism spectrum disorder. However, there has been little research examining agreement between self-report and informant-report in this population. Valid self-report measures are essential for conducting research with and providing high quality clinical services for adults with autism spectrum disorder. This study collected measures from 40 pairs of adults with autism spectrum disorder and their caregivers on measures of symptom severity, daily living skills, quality of life, and unmet service needs. Caregiver and self-report responses were highly associated with one another on all measures, though there were significant gaps between scores on the measures of daily living skills and quality of life. It is also important to understand how each informant's responses relate to outcomes in the areas of employment and independent living. Using self-report and caregiver-report together better predicted outcomes for the adult with autism spectrum disorder than scores from either individual reporter alone. These findings show that there is unique and valuable information provided by both adults with autism spectrum disorder and their caregivers; a multi-informant approach is important for obtaining the most comprehensive picture of current functioning, identifying unmet service needs, and creating treatment plans. This research also highlights the importance of including and prioritizing self-report perspectives in shaping service planning.


Asunto(s)
Trastorno del Espectro Autista , Adulto , Trastorno del Espectro Autista/diagnóstico , Cuidadores , Empleo , Humanos , Calidad de Vida , Autoinforme
16.
Lang Speech Hear Serv Sch ; 50(3): 416-433, 2019 07 12.
Artículo en Inglés | MEDLINE | ID: mdl-31287766

RESUMEN

Purpose This study aimed to examine the initial efficacy of a parent-assisted blended intervention combining components of Structured TEACCHing and Social Thinking, designed to increase social communication and self-regulation concept knowledge in 1st and 2nd graders ( n = 17) diagnosed with autism spectrum disorder (ASD) and their parents. Method A randomized delayed treatment control group design with pre- and postintervention assessments of both parents and children was implemented within a community practice setting. Two follow-up assessments at 3 and 6 months postintervention were also completed. Results Overall, results indicate that the intervention is efficacious in teaching social communication and self-regulation concept knowledge to children with ASD and their parents. Both parents and children demonstrated an increase in social communication and self-regulation knowledge after participating in the Growing, Learning, and Living With Autism Group as compared to a delayed treatment control group. The effects of the intervention did not extend to parent-child interactions coded from video recordings. Child treatment effects were maintained at the 3- and 6-month follow-up assessments. Conclusions Preliminary efficacy of the Growing, Learning, and Living With Autism Group was established. Based on parent report at the conclusion of the intervention, this is a socially valid intervention for teaching social communication and self-regulation skills to school-age children with ASD. Supplemental Material https://doi.org/10.23641/asha.8637236.


Asunto(s)
Trastorno del Espectro Autista/terapia , Terapia Cognitivo-Conductual/métodos , Comunicación , Relaciones Interpersonales , Autocontrol , Trastorno del Espectro Autista/psicología , Niño , Escolaridad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Relaciones Padres-Hijo , Educación del Paciente como Asunto/métodos , Psicometría , Resultado del Tratamiento
17.
Neurobiol Dis ; 127: 512-526, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30954703

RESUMEN

BACKGROUND: Mutations in LRRK2 are the most common cause of autosomal dominant Parkinson's disease, and the relevance of LRRK2 to the sporadic form of the disease is becoming ever more apparent. It is therefore essential that studies are conducted to improve our understanding of the cellular role of this protein. Here we use multiple models and techniques to identify the pathways through which LRRK2 mutations may lead to the development of Parkinson's disease. METHODS: A novel integrated transcriptomics and proteomics approach was used to identify pathways that were significantly altered in iPSC-derived dopaminergic neurons carrying the LRRK2-G2019S mutation. Western blotting, immunostaining and functional assays including FM1-43 analysis of synaptic vesicle endocytosis were performed to confirm these findings in iPSC-derived dopaminergic neuronal cultures carrying either the LRRK2-G2019S or the LRRK2-R1441C mutation, and LRRK2 BAC transgenic rats, and post-mortem human brain tissue from LRRK2-G2019S patients. RESULTS: Our integrated -omics analysis revealed highly significant dysregulation of the endocytic pathway in iPSC-derived dopaminergic neurons carrying the LRRK2-G2019S mutation. Western blot analysis confirmed that key endocytic proteins including endophilin I-III, dynamin-1, and various RAB proteins were downregulated in these cultures and in cultures carrying the LRRK2-R1441C mutation, compared with controls. We also found changes in expression of 25 RAB proteins. Changes in endocytic protein expression led to a functional impairment in clathrin-mediated synaptic vesicle endocytosis. Further to this, we found that the endocytic pathway was also perturbed in striatal tissue of aged LRRK2 BAC transgenic rats overexpressing either the LRRK2 wildtype, LRRK2-R1441C or LRRK2-G2019S transgenes. Finally, we found that clathrin heavy chain and endophilin I-III levels are increased in human post-mortem tissue from LRRK2-G2019S patients compared with controls. CONCLUSIONS: Our study demonstrates extensive alterations across the endocytic pathway associated with LRRK2 mutations in iPSC-derived dopaminergic neurons and BAC transgenic rats, as well as in post-mortem brain tissue from PD patients carrying a LRRK2 mutation. In particular, we find evidence of disrupted clathrin-mediated endocytosis and suggest that LRRK2-mediated PD pathogenesis may arise through dysregulation of this process.


Asunto(s)
Neuronas Dopaminérgicas/metabolismo , Endocitosis/genética , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Mutación , Animales , Perfilación de la Expresión Génica , Humanos , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/metabolismo , Proteómica , Ratas , Ratas Transgénicas , Vesículas Sinápticas/genética
18.
J Autism Dev Disord ; 49(2): 556-568, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30145735

RESUMEN

With the increasing prevalence of adults with autism spectrum disorder (ASD), research examining the service experiences of this population is greatly needed. The current study investigated service use, unmet needs, and obstacles to service access for a large sample of adults with ASD. After accounting for various demographic factors known to impact service usage and needs, living situation was a significant predictor of service use, needs, and obstacles to services. Adults with ASD living with family reported less service use, higher unmet need, and more obstacles to accessing services. With more than half of this adult sample living with family, results have clear public policy implications to support the increasing population of adults with ASD living with aging caregivers.


Asunto(s)
Trastorno del Espectro Autista/epidemiología , Utilización de Instalaciones y Servicios/estadística & datos numéricos , Necesidades y Demandas de Servicios de Salud/normas , Adulto , Trastorno del Espectro Autista/rehabilitación , Niño , Familia , Femenino , Humanos , Masculino , Características de la Residencia , Condiciones Sociales
19.
Autism Res ; 11(11): 1446-1454, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30375190

RESUMEN

The autism spectrum disorder (ASD) research community is increasingly considering the importance of measuring outcomes that are meaningful to individuals with ASD and their families. The 2017 IMFAR preconference aimed to gain the perspectives of how to define and measure "meaningful outcomes" from 280 participants, including people with ASD and their families, service providers, and researchers. Six themes were identified: (a) the definition of "outcome" varies by context and perspective; (b) the need to broaden the scope of what researchers measure; (c) the need for new assessment tools; (d) the need to expand data analytic methods; (e) where to focus (with emphasis on considering different developmental stages and aspects of diversity); and (f) a need for community partnerships to bridge research and daily practice. The challenge that the research community now faces is how to move the evidence base for clinical practice forward while keeping alive the divergence of views and considerations that are relevant for thinking about complex outcomes for the highly heterogeneous group of individuals with ASD. This commentary provides recommendations, with an emphasis on lifespan viewpoints that encompass individual strengths and preferences. Autism Research 2018, 11: 1446-1454. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The 2017 IMFAR preconference aimed to gain the perspectives of how to define and measure "meaningful outcomes" from a variety of stakeholders. This commentary outlines the six themes identified from keynote and panel presentations and audience-participated discussions. Recommendations are made to emphasize perspectives that look across the lifespan and encompass individual strengths and preferences.


Asunto(s)
Trastorno del Espectro Autista/terapia , Internacionalidad , Evaluación de Resultado en la Atención de Salud/métodos , Investigación , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Sociedades Médicas , Adulto Joven
20.
J Consult Clin Psychol ; 86(3): 205-217, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29504790

RESUMEN

OBJECTIVE: Few guidelines are available regarding optimal training models for practitioners delivering cognitive-behavioral therapy (CBT) for anxiety in youth with autism spectrum disorder (ASD). The present study systematically compared 3 instructional conditions for delivering the Facing Your Fears program (FYF) to children with ASD and anxiety. METHOD: Thirty-four clinicians (Mage = 34 years; 94% women, 88% Caucasian) and an intent-to-treat sample of 91 children with ASD and anxiety (Mage = 11; 84% male 53% Caucasian) met eligibility criteria across 4 sites. A 3-group parallel design via a Latin square procedure was used to randomize 9 teams of clinicians to 1 of 3 training conditions: Manual, Workshop, Workshop-Plus. The effectiveness of instructional condition was assessed via implementation (CBT knowledge, treatment fidelity) and treatment outcomes (reductions in anxiety as measured by the Anxiety Disorders Interview Schedule-Parent (ADIS-P). RESULTS: Clinicians in both Workshop conditions significantly increased CBT knowledge postworkshop, F(1, 18) = 19.8, p < .001. Excellent treatment fidelity was obtained across conditions (above 89%), although clinicians in the Workshop conditions obtained significantly higher fidelity ratings and delivered FYF with greater quality than the Manual condition. Children with ASD demonstrated significant reductions in anxiety symptoms for three of the four anxiety diagnoses, with no differences noted across instructional condition. Rates of improvement were lower than those obtained in a previous controlled trial. CONCLUSIONS: Results suggest that although there may be some advantage to participating in a Workshop, clinicians in all conditions could deliver FYF with excellent fidelity and yield positive treatment outcomes. Lack of a no-treatment comparison group limits interpretation of findings. (PsycINFO Database Record


Asunto(s)
Trastornos de Ansiedad/terapia , Trastorno del Espectro Autista/terapia , Terapia Cognitivo-Conductual/educación , Educación Continua , Psicoterapia de Grupo/educación , Adolescente , Trastornos de Ansiedad/complicaciones , Trastorno del Espectro Autista/complicaciones , Niño , Manejo de la Enfermedad , Femenino , Humanos , Masculino
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