Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 22
Filtrar
1.
Arts Health ; : 1-16, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38420998

RESUMO

INTRODUCTION: Tobacco and nicotine use are prevalent in residential substance use disorder (SUD) treatment programs that serve pregnant and parenting women. This study evaluated a group intervention that integrates knitting instruction, psychoeducation, and social support to improve readiness to quit and reduce tobacco and nicotine use among this population. METHODS: Clients and staff in four residential SUD treatment programs were assigned to a six-week group intervention or a wait-list control group. Intervention implementation and preliminary effectiveness were assessed using surveys, interviews, and observational measures. RESULTS: From pre- to post-test, knowledge related to tobacco and nicotine use increased and number of cigarettes smoked per day and nicotine dependence decreased, on average. Additionally, the intervention group reported lower levels of nicotine dependence relative to the control group. Participants described knitting as an enjoyable replacement for smoking and a strategy to regulate stress and emotions. CONCLUSIONS: Smoking cessation interventions that include knitting are promising and warrant further testing.

2.
Prev Sci ; 25(3): 448-458, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38236353

RESUMO

Early childhood home visiting programs are well positioned to improve equity and reduce health disparities for families headed by caregivers with intellectual disabilities and other learning differences. Early identification of learning differences through screening may help home visiting staff tailor services and thus improve family engagement and outcomes. Using a mixed methods design, this study assessed potential determinants and outcomes related to implementation of a screening tool for learning differences adapted for the home visiting context. Participants were six home visiting staff and nine caregivers from multiple home visiting programs in one state. Staff completed surveys at enrollment and each time they conducted a screen with a caregiver. Staff also completed semi-structured interviews after conducting screens with at least two caregivers. Caregivers completed semi-structured interviews after taking part in a screen. At study enrollment, staff felt it was important to know if caregivers had learning differences, yet some believed caregivers would not like being asked about them. Survey and interview data aligned with theoretical determinants of implementation success, including staff competencies related to screening (e.g., knowledge, skills), perceived fit of screening with staff role and organizational context, and beliefs that the screening would improve engagement of caregivers and service delivery. Staff perceived the tool to be acceptable, feasible, and useful, although some acknowledged that caregivers might feel uncomfortable if the tool was not used carefully. Overall, caregivers found the tool to be acceptable and most believed it was helpful for the home visitor to have information about their learning experiences and needs. Findings lend initial support for the use of an adapted screening tool to identify potential learning differences.


Assuntos
Cuidadores , Estudos de Viabilidade , Humanos , Cuidadores/educação , Feminino , Masculino , Pré-Escolar , Visita Domiciliar , Adulto , Programas de Rastreamento , Inquéritos e Questionários , Lactente , Entrevistas como Assunto
3.
Prev Sci ; 24(6): 1225-1238, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37369883

RESUMO

Early childhood home visiting is a preventive service delivery strategy that aims to promote child and parent health, positive parenting, child development and school readiness, and family economic self-sufficiency. To meet families' needs, programs provide a combination of direct services, and referrals and linkages to community-based services. Service coordination is therefore a critical component of home visiting's role within the early childhood system of care. This multiple-case study describes facilitators and barriers to service coordination, as identified by home visiting program staff and families. We interviewed program managers, supervisors, home visitors, and families from four local home visiting programs in the eastern USA with diverse contextual characteristics that showed evidence of having strong coordination. Using multiple-case study methodology, we analyzed the data to understand key facilitators and barriers to service coordination for each case and identify and describe common themes across cases. Facilitators included interagency relationships and collaboration; a culture of teamwork; dedicated, well-connected staff; supervision; trusting relationships with families; and warm handoffs. Barriers to service coordination were limited availability and accessibility of local resources, perceived stigma among other service providers, and families' ambivalence toward some services. Home visiting staff and families emphasized that relationships at multiple levels are fundamental to service coordination, barriers are complex, and coordination is time- and labor-intensive. Coalitions that bring together diverse stakeholder groups at the state and local levels can provide meaningful coordination support to the early childhood services.


Assuntos
Serviços de Assistência Domiciliar , Pré-Escolar , Humanos , Visita Domiciliar , Poder Familiar , Pais , Serviços Preventivos de Saúde
4.
Drug Alcohol Depend Rep ; 7: 100146, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37012980

RESUMO

Background: Postpartum mothers are at heightened risk for heavy episodic drinking (HED). Research with this population is critical to developing acceptable and effective tailored interventions, but new mothers who use alcohol are often reluctant to engage in research due to stigma and fear of child removal. This study examined feasibility of recruitment and ecological momentary assessment (EMA) in early postpartum mothers with histories of HED. Methods: Participants were recruited via Facebook and Reddit and completed 14 days of EMA surveys. Baseline characteristics, recruitment feasibility, and EMA feasibility and acceptability were examined. Participants attended focus groups to further inform quantitative data. Results: Reddit yielded a larger proportion of eligible individuals than Facebook, and 86% of the final enroled sample was recruited via Reddit. The average compliance rate of 75% is in line with other studies of similar populations. Half the sample reported alcohol use, and 78% reported the urge to drink at least once, supporting feasibility of EMA for collecting alcohol use data. Participants reported low burden and high acceptability of the study on both quantitative and qualitative measures. Baseline low maternal self-efficacy was associated with greater EMA compliance, and first-time mothers reported lower EMA burden compared to veteran mothers. College graduates, and participants with lower drinking refusal self-efficacy and greater alcohol severity were more likely to report alcohol use on EMA. Conclusions: Future studies should consider Reddit as a recruitment strategy. Findings generally support feasibility and acceptability of EMA to assess HED in postpartum mothers.

5.
Matern Child Health J ; 27(3): 407-412, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36737527

RESUMO

INTRODUCTION: Evidence supports ongoing investment in maternal and early childhood home visiting in the US. Yet, a small fraction of eligible families accesses these services, and little is known about how families are referred. This report describes priority populations for home visiting programs, the capacity of programs to enroll more families, common sources of referrals to home visiting, and sources from which programs want to receive more referrals. METHODS: We conducted a secondary analysis of data from a national web-based survey of members of the Home Visiting Applied Research Collaborative (HARC), focusing on a small set of items that directly addressed study aims. Survey respondents (N = 87) represented local programs implementing varying home visiting models diverse in size and geographic context. RESULTS: Programs prioritized enrollment of pregnant women; parents with mental health, substance abuse or intimate partner violence concerns; teen parents; and children with developmental delays or child welfare involvement. Most respondents reported capacity to enroll more families in their programs. Few reported receiving any referrals from pediatric providers, child welfare, early care and education, or TANF/other social services. Most desired more referrals, especially from healthcare providers, WIC, and TANF/other social services. DISCUSSION: Given that most programs have the capacity to serve more families, this study provides insights regarding providers with whom home visiting programs might strengthen their referral systems.


Assuntos
Serviços de Saúde da Criança , Serviços de Assistência Domiciliar , Adolescente , Criança , Humanos , Pré-Escolar , Feminino , Gravidez , Cuidado Pós-Natal , Pais , Família , Visita Domiciliar , Encaminhamento e Consulta
6.
Intellect Dev Disabil ; 60(4): 288-302, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35868304

RESUMO

Evidence-based maternal, infant, and early home visiting (EBHV) is a potential strategy to support parent and child health and well-being among families headed by a parent with an intellectual disability (ID). Little is known about the capacity of EBHV programs to meet the needs of parents with ID effectively. This study examined home visitor practices and perceptions of services for parents with ID. Home visiting staff recruited from a national practice-based research network participated in web-based surveys. Practices and perceptions varied widely across sites and were associated with home visitor knowledge and self-efficacy and site implementation supports, such as policies, curricula, and community collaboration. More work is needed to understand and strengthen EBHV services for parents with ID.


Assuntos
Deficiência Intelectual , Mães , Criança , Feminino , Visita Domiciliar , Humanos , Lactente , Poder Familiar , Pais
7.
JMIR Res Protoc ; 11(4): e36849, 2022 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-35373778

RESUMO

BACKGROUND: Risky drinking is prevalent among women of childbearing age. Although many women reduce their drinking during pregnancy, more than half return to prepregnancy levels during the early postpartum period. Risky drinking in new mothers may be associated with negative child and maternal health outcomes; however, new mothers are unlikely to seek treatment for risky drinking because of stigma and fear of child protective service involvement. SMS text messaging is a promising approach for reaching non-treatment-seeking new mothers at risk because of risky drinking. SMS text messaging interventions (TMIs) are empirically supported for alcohol use, but a tailored intervention for new mothers does not exist. This study aims to fill this gap by developing a just-in-time adaptive TMI for postpartum risky drinking. OBJECTIVE: The objectives of this paper are to present a preliminary conceptual model of postpartum risky drinking and describe the protocol for conducting an ecological momentary assessment (EMA) study with new mothers to inform the refinement of the conceptual model and development of the TMI. METHODS: This paper presents a preliminary conceptual model of postpartum risky drinking based on the motivational model of alcohol use, social cognitive theory, and temporal self-regulation theory. The model proposes three primary intervention targets: motivation, self-efficacy, and self-regulation. Theoretical and empirical literature in support of the conceptual model is described. The paper also describes procedures for a study that will collect EMA data from 30 participants recruited via social media and the perinatal Central Intake system of New Jersey. Following the baseline assessment, EMA surveys will be sent 5 times per day for 14 days. The assessment instruments and data analysis procedures are described. RESULTS: Recruitment is scheduled to begin in January 2022 and is anticipated to conclude in March 2022. Study results are estimated to be published in July 2022. CONCLUSIONS: The study findings will enhance our understanding of daily and momentary fluctuations in risk and protective factors for risky drinking during the early postpartum period. The findings will be used to refine the conceptual model and inform the development of the TMI. The next steps for this work include the development of intervention components via an iterative participatory design process and testing of the resulting intervention in a pilot microrandomized trial. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/36849.

8.
Drug Alcohol Rev ; 41(1): 182-187, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34192391

RESUMO

INTRODUCTION: Text messaging interventions (TMI) are promising for addressing heavy episodic drinking (HED) in non-treatment-seeking postpartum women. Their anonymous delivery can overcome fear of consequences that often prevents postpartum women from seeking treatment for HED. We assessed feasibility and acceptability of text messaging to inform the development of a tailored TMI for postpartum HED. METHODS: We surveyed 165 postpartum women recruited via a national Qualtrics panel on their drinking behaviours, mobile technology use and TMI preferences. RESULTS: Twenty-five percent of the sample (N = 41) were classified as heavy episodic drinkers, with significant drinking reported before, during and after pregnancy, supporting the need for intervention. Feasibility of text messaging was supported by nearly universal mobile phone ownership and text messaging. Attitudes and intervention preferences varied, with 30% of HEDs likely to participate in an intervention asking them to receive automated messages, and 46% likely to participate in an intervention that included live texting with a counsellor. Respondents were more likely to participate in a study that asked them to respond to messages about mood and stress (63%) than daily drinking behaviours (35%), and were most interested in a TMI that included live texting with a counsellor. Nearly half the sample endorsed fear of child removal as a significant barrier to participation. DISCUSSION AND CONCLUSIONS: Findings support the feasibility of text messaging as an intervention approach for postpartum HEDs. Postpartum women may have unique concerns and preferences that differ from other groups of HEDs, making a user-centred design approach critical.


Assuntos
Intoxicação Alcoólica , Telefone Celular , Envio de Mensagens de Texto , Feminino , Humanos , Período Pós-Parto , Gravidez , Inquéritos e Questionários
9.
Prev Sci ; 22(5): 633-644, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33835378

RESUMO

Maternal risks such as poor mental health, partner violence, and substance misuse can undermine child health and development. Maternal and early childhood home visiting programs address these risks primarily through referral and coordination with community-based services, yet effects on these outcomes have been small. This study assessed the strengths of local home visiting sites' systems to support coordination of mental health, partner violence, and substance use services. Investigators recruited home visiting sites (N = 88) representing diverse models from a national practice-based research network, the Home Visiting Applied Research Collaborative (HARC). Web-based surveys assessed five implementation system supports for coordination and nine coordination activities drawn from the Measurement Framework for Coordination developed earlier in the project. Surveys also assessed seven coordination barriers identified in previous research. Sites varied in their implementation supports and coordination activities; on average, sites had stronger systems in place to support screening and referring families than to support linkage and follow-up. Implementation supports and activity scores were higher for mental health and partner violence than for substance use. Across all service needs, scores were highest for offering a referral and documenting the caregiver's agreement for exchange of information between providers. Scores were lowest for offering a warm handoff. Lack of open slots and lack of transportation were major barriers to successful coordination for all three services. Results suggest that home visiting coordination could be strengthened by focusing on infrastructure for linkage and follow-up with services in the broader system of care.


Assuntos
Saúde Mental , Transtornos Relacionados ao Uso de Substâncias , Criança , Pré-Escolar , Feminino , Visita Domiciliar , Humanos , Saúde Materna , Transtornos Relacionados ao Uso de Substâncias/prevenção & controle , Violência
10.
Pilot Feasibility Stud ; 7(1): 8, 2021 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-33407939

RESUMO

BACKGROUND: Home visiting is a well-supported strategy for addressing maternal and child health disparities. However, evidence-based models generally share implementation challenges at scale, including engagement and retention of families. Precision home visiting may address this issue. This paper describes the first known pilot randomized implementation trial of a precision home visiting approach vs. standard implementation. Primary aims are to: 1) explore the acceptability and feasibility of a precision approach to home visiting and 2) examine the difference between Standard Family Spirit and Precision Family Spirit on participants' program satisfaction, client-home visitor relationship, goal alliance, and the impact of these factors on participant engagement and retention. Secondary aims are to explore potential differences on maternal behavioral and mental health outcomes and child development outcomes to inform sample size estimations for a fully powered study. METHODS: This is a pilot Hybrid Type 3 implementation trial. Four Michigan communities primarily serving the Native American families and already using Family Spirit were randomized by site to receive Standard Family Spirit or Precision Family Spirit. Participants include N = 60 mothers at least 14 years of age (pregnant or with a newborn < 2 months of age) currently enrolled in Family Spirit. Precision Family Spirit participants receive core lessons plus additional lessons based on needs identified at baseline and that emerge during the trial. Control mothers receive the standard sequence of Family Spirit lessons. Data is collected at baseline (< 2 months postpartum), and 2, 6, and 12 months postpartum. All Precision Family Spirit participants are invited to complete qualitative interviews at study midpoint and endpoint. All home visitors are invited to participate in focus groups between study midpoint and endpoint. Exploratory data analysis will assess feasibility, acceptability, client-home visitor relationship, retention, adherence, and potential differences in intervention outcomes. DISCUSSION: This trial will provide new information about the acceptability and feasibility of precision home visiting and pilot data on program satisfaction, client-home visitor relationship, goal alliance, retention, and targeted maternal-child intervention outcomes. Findings will inform the design of a fully powered randomized implementation trial of precision vs. standard home visiting. TRIAL REGISTRATION: ClinicalTrials.gov # NCT03975530 ; Registered on June 5, 2019.

11.
Prev Sci ; 21(5): 728-747, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32436153

RESUMO

Despite the evidence and investment in evidence-based federally funded maternal, infant, and early childhood home visiting, substantial challenges persist with parent involvement: enrolling, engaging, and retaining participants. We present an integrative review and synthesis of recent evidence regarding the influence of multi-level factors on parent involvement in evidence-based home visiting programs. We conducted a search for original research studies published from January 2007 to March 2018 using PubMed, Embase, Cochrane, and CINAHL databases. Twenty-two studies met criteria for inclusion. Parent and family characteristics were the most commonly studied influencing factor; however, consistent evidence for its role in involvement was scarce. Attributes of the home visitor and quality of the relationship between home visitor and participant were found to promote parent involvement. Staff turnover was found to be a barrier to parent involvement. A limited number of influencing factors have been adequately investigated, and those that have reveal inconsistent findings regarding factors that promote parent involvement in home visiting. Future research should move beyond the study of parent- and family-level characteristics and focus on program- and home visitor-level characteristics which, although still limited, have demonstrated some consistent association with parent involvement. Neighborhood characteristics have not been well studied and warrant future research.


Assuntos
Visita Domiciliar , Relações Mãe-Filho , Aceitação pelo Paciente de Cuidados de Saúde , Avaliação de Programas e Projetos de Saúde , Pré-Escolar , Prática Clínica Baseada em Evidências , Feminino , Humanos , Lactente , Comportamento Materno , Pais/psicologia
12.
Child Maltreat ; 25(2): 137-151, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31409120

RESUMO

Substance-exposed newborns (SENs) are at increased risk of child maltreatment, out-of-home placement, and poor health and developmental outcomes. The purpose of this systematic review is to synthesize existing research on community- and home-based interventions designed to improve parenting and reduce risk of maltreatment for families with SENs, applying a program logic framework. The review includes studies that used preexperimental, quasi-experimental, and experimental designs. Twelve interventions were identified. Of the nine studies that used more rigorous experimental or quasi-experimental designs, five showed positive effects on at least one parenting or child maltreatment outcome, although some studies showed high risk of bias. Full coherence among the intended participants, theory of change, and program components was observed for only two interventions. The findings suggest a need for more rigorous research to develop and test interventions that are grounded in theory and prior research and that address the unique needs of families with SENs.


Assuntos
Maus-Tratos Infantis/prevenção & controle , Serviços de Saúde Comunitária , Serviços de Assistência Domiciliar , Poder Familiar , Sistemas de Apoio Psicossocial , Transtornos Relacionados ao Uso de Substâncias/psicologia , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Transtornos Relacionados ao Uso de Substâncias/prevenção & controle
13.
J Public Health Manag Pract ; 26(1): E9-E18, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31765351

RESUMO

CONTEXT: The federal Maternal, Infant, and Early Childhood Home Visiting (MIECHV) program provides funding to states to promote health and development of at-risk expectant families and families with young children. MIECHV programs are required to coordinate services within a larger system of care; yet, little is known about state-level factors that support coordination. OBJECTIVE: This study examined state-level supports and barriers for coordination of home visiting with other entities within the early childhood system of care. METHODS: A Web-based survey was distributed in 2016 via e-mail to MIECHV administrators in all 50 states, 5 US territories, and the District of Columbia. The survey elicited information on 5 domains shown by theory and prior research to support coordination: MIECHV leadership, state leadership, shared goals across sectors, data systems, and finance. Respondents also rated their perceptions of state-level coordination. RESULTS: Forty-two (75%) of the MIECHV administrators participated in the survey. States and territories varied widely within and across the 5 domains of support for coordination. MIECHV leadership was an area of relative strength, whereas data systems and finance showed the most room for improvement. State leadership and shared goals were associated with stronger perceptions of state-level coordination. CONCLUSIONS: The findings indicate opportunities for shared learning among states to enhance coordination infrastructure. Such efforts should include multiple stakeholder perspectives and consideration of local and organizational contexts. This work could be facilitated using the service coordination toolkit developed as part of this project.


Assuntos
Continuidade da Assistência ao Paciente/normas , Serviços de Assistência Domiciliar/normas , Serviços de Saúde Materno-Infantil/normas , Criança , Continuidade da Assistência ao Paciente/estatística & dados numéricos , Feminino , Serviços de Assistência Domiciliar/estatística & dados numéricos , Visita Domiciliar/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Serviços de Saúde Materno-Infantil/estatística & dados numéricos , Cuidado Pós-Natal/normas , Cuidado Pós-Natal/estatística & dados numéricos , Desenvolvimento de Programas/métodos , Avaliação de Programas e Projetos de Saúde/métodos , Governo Estadual , Inquéritos e Questionários , Estados Unidos
14.
Cancer Med ; 8(12): 5609-5618, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31407530

RESUMO

Women who inherit a BRCA1 or BRCA2 mutation have an increased risk of breast cancer. Preliminary evidence suggests they may also have defects in bone marrow function. To test this hypothesis, we conducted a multicenter, retrospective, matched cohort study, comparing women with localized breast cancer requiring cytotoxic chemotherapy who carried an inherited BRCA1 or BRCA2 mutation to similar wild-type patients treated between 1995 and 2017 and matched based on age, race, site, and chemotherapy regimen. The proportion who developed specific hematologic toxicities, timing of these toxicities, and patterns of blood count fluctuations over time were compared among BRCA1 carriers vs matched wild-type patients and among BRCA2 carriers vs matched wild-type patients. 88 BRCA1 carriers and 75 BRCA2 carriers were matched to 226 and 242 wild-type patients, respectively. The proportions and timing of experiencing any grade or grade 3/4 cytopenias during chemotherapy were not significantly different for BRCA1 carriers or BRCA2 carriers vs matched wild-type patients. Proportions requiring treatment modifications and time to first modification were also similar. Patterns of blood count fluctuations over time in mutation carriers mirrored those in wild-type patients overall and by the most common regimens. Women with an inherited mutation in BRCA1 or BRCA2 experience similar frequency, severity, and timing of hematologic toxicities during curative intent breast cancer chemotherapy as matched wild-type patients. Our findings suggest that BRCA1 or BRCA2 haploinsufficiency is sufficient for adequate bone marrow reserve in the face of short-term repetitive hematopoietic stressors.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/tratamento farmacológico , Mutação em Linhagem Germinativa , Adulto , Neoplasias da Mama/genética , Estudos de Casos e Controles , Feminino , Haploinsuficiência , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento
15.
Matern Child Health J ; 22(Suppl 1): 122, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30136062

RESUMO

The article "Randomized Trial of a Training Program to Improve Home Visitor Communication around Sensitive Topics", written by Allison West, Laina Gagliardi, Amanda Gatewood, Susan Higman, Jane Daniels, Kay O'Neill and Anne Duggan, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 31 May 2018 without open access.

16.
Matern Child Health J ; 22(Suppl 1): 70-78, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29855839

RESUMO

INTRODUCTION: Strong communication skills are necessary to engage families, perform accurate assessments, and motivate behavior change around sensitive issues encountered in home visiting. METHODS: A two-arm, cluster-randomized trial evaluated the impact of a trans-model communications training course for home visitors. Fourteen home visiting programs in Maryland were assigned to a training intervention (n = 7 programs; 30 visitors) or wait-list control group (n = 7 programs; 34 visitors). Independent observers assessed training fidelity. Visitor's attitudes, knowledge, and confidence were assessed through surveys. Their skills were assessed through coding of video-recorded visits with standardized mothers. Data were collected at baseline, within 2 weeks post-training, and at 2 months post-training. Regression models accounted for clustering within programs and controlled for characteristics on which study groups differed at baseline. RESULTS: Independent observers rated the training highly on fidelity and acceptability. Home visitors rated it as useful, consistent with their model, and worth the effort. Immediately following the training, the training group scored higher than the control group on a range of indicators in all domains-knowledge, attitudes, confidence, and skills in using motivational communication techniques. At 2 months post-training, impacts on knowledge and attitudes persisted; impacts on confidence and observed skill were attenuated. DISCUSSION: The training course showed favorable immediate impacts on knowledge, attitudes, confidence, and skills, and long-term impacts on home visitor knowledge and attitudes. The findings underscore the need for ongoing reinforcement of skills following training.


Assuntos
Comunicação , Visita Domiciliar , Capacitação em Serviço , Cuidado Pós-Natal/métodos , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Entrevista Motivacional , Avaliação de Programas e Projetos de Saúde
17.
Fam Cancer ; 17(4): 495-505, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29445900

RESUMO

Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a 2 to fivefold relative risk of cancer. Two such genes included on many comprehensive cancer panels are the DNA repair genes ATM and CHEK2, best known for moderately increased risk of breast cancer development. However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized. We convened a large, multidisciplinary, cross-sectional panel of GCRA clinicians to review challenging, peer-submitted cases of patients identified with ATM or CHEK2 variants. This paper summarizes the inter-professional case discussion and recommendations generated during the session, the level of concordance with respect to recommendations between the academic and community clinician participants for each case, and potential barriers to implementing recommended care in various practice settings.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Neoplasias da Mama/prevenção & controle , Quinase do Ponto de Checagem 2/genética , Neoplasias Pancreáticas/genética , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/radioterapia , Estudos Transversais , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Mastectomia , Pessoa de Meia-Idade , Linhagem , Médicos
18.
Blood Adv ; 2(2): 146-150, 2018 01 23.
Artigo em Inglês | MEDLINE | ID: mdl-29365323

RESUMO

Next-generation sequencing (NGS)-based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions. Because these panels include genes associated with hereditary hematopoietic malignancies (HHMs), we hypothesized that these panels could identify pathogenic germ line variants in malignant cells, thereby identifying patients at risk for HHMs. In total, pathogenic or likely pathogenic variants in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, or TP53 were identified in 74 (21%) of 360 patients. Germ line tissue was available for 24 patients with 25 pathogenic or likely pathogenic variants with variant allele frequencies >0.4. Six (24%) of these 25 variants were of germ line origin. Three DDX41 variants, 2 GATA2 variants, and a TP53 variant previously implicated in Li-Fraumeni syndrome were of germ line origin. No likely pathogenic/pathogenic germ line variants possessed variant allele frequencies <0.4. This study demonstrates that NGS-based prognostic panels may identify individuals at risk for HHMs despite not being designed for this purpose. Furthermore, variants known to cause Li-Fraumeni syndrome as well as known pathogenic variants in genes such as DDX41 and GATA2 are especially likely to be of germ line origin. Thus, tumor-based panels may augment, but should not replace, comprehensive germ line-based testing and counseling.


Assuntos
Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias Hematológicas/genética , Adulto , Idoso , Feminino , Frequência do Gene , Células Germinativas/patologia , Humanos , Síndrome de Li-Fraumeni/genética , Masculino , Pessoa de Meia-Idade , Prognóstico , Análise de Sequência de DNA , Adulto Jovem
19.
Hematology Am Soc Hematol Educ Program ; 2017(1): 79-87, 2017 12 08.
Artigo em Inglês | MEDLINE | ID: mdl-29222240

RESUMO

Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs. This review presents a practical approach for the clinical hematologist that outlines when to suspect an IBMFS and how to use various diagnostic tools, from physical examination to screening laboratory tests and genomics, for the diagnosis of the most frequent IBMFSs: Fanconi anemia, telomere biology disorders, Diamond-Blackfan anemia, GATA2 deficiency syndrome, Shwachman-Diamond syndrome, and severe congenital neutropenia.


Assuntos
Doenças da Medula Óssea/diagnóstico , Doenças da Medula Óssea/genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Testes Genéticos/métodos , Doenças da Medula Óssea/metabolismo , Doenças Genéticas Inatas/metabolismo , Humanos , Síndrome
20.
Infant Ment Health J ; 38(4): 514-522, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28665540

RESUMO

Implementation of evidence-based interventions in "real-world" settings is enhanced when front-line staff view the intervention as acceptable, appropriate, and feasible. This qualitative study addresses Early Head Start (EHS) home visitors' perceptions and experiences of an evidence-based parenting intervention, the Attachment and Biobehavioral Catch-up program (M. Dozier, O. Lindhiem, & J. Ackerman, 2005), when added to EHS services as usual within the context of a research-practice partnership. Thematic analysis of in-depth, qualitative interviews indicates that home visitors experienced the intervention as positive and helpful for EHS families. Some challenges included scheduling and uncertainty regarding the goals of the intervention. Concerns over participation in the research centered on information exchange, confidentiality, and time limitations.


Assuntos
Intervenção Educacional Precoce/métodos , Apego ao Objeto , Poder Familiar/psicologia , Percepção , Adolescente , Adulto , Pré-Escolar , Intervenção Educacional Precoce/organização & administração , Feminino , Serviços de Assistência Domiciliar , Humanos , Lactente , Recém-Nascido , Relações Mãe-Filho/psicologia , Mães , Projetos Piloto , Pesquisa Qualitativa , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA