Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review.

BACKGROUND: Advances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions. OBJECTIVE: This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery. METHODS: We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services. RESULTS: There were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings. CONCLUSIONS: The literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.

Developmental Outcomes Among Young Children With Congenital Zika Syndrome in Brazil.

Importance: Although birth defects in children with congenital Zika syndrome (CZS) are expected to result in significant intellectual disabilities, the extent of delay and profiles of development have yet to be fully described. Objectives: To describe the neurodevelopmental profiles of children with CZS and to test whether prenatal and postpartum characteristics were associated with the severity of developmental delays. Design, Setting, and Participants: This is a case series of the trajectories of developmental, behavioral, and medical needs of 121 young children with CZS who were assessed at a specialized rehabilitation center in Recife, Brazil, beginning in January 2018 as part of 5-year longitudinal study. Children were included if they had serologic confirmation of Zika virus and met clinical criteria accompanied by parental report of suspected exposure to Zika virus during pregnancy. Exposures: Prenatal Zika virus exposure. Main Outcomes and Measures: The Brazilian version of the Bayley Scales of Infant and Toddler Development, Third Edition, was administered by trained assessors as part of an initial comprehensive assessment battery. Caregiver interviews and medical record reviews were conducted to gather basic demographic information and medical comorbidities. Linear regression was used to identify potential factors for development. Results: The sample included 121 young children (mean [SD] age, 31.2 [1.9] months; 61 [50.4%] girls). At age approximately 2.5 years, nearly all children in this sample demonstrated profound developmental delays across all domains of functioning, with a mean (SD) developmental age equivalent to approximately 2 to 4 months (eg, cognitive domain, 2.24 [3.09] months; fine motor subscale, 2.15 [2.93] months; expressive language subscale, 2.30 [2.52] months). A relative strength was found in receptive language, with scores on this scale significantly higher than most other domains (eg, cognition: t = 3.73; P < .001; fine motor: t = 6.99; P < .001). Head circumference at birth was the single strongest factor associated with outcomes across all developmental domains (eg, cognitive: ß = 1.41; SE, 0.67; P = .04; fine motor: ß = 1.36; SE, 0.49; P = .007). Conclusions and Relevance: The findings of this study provide important information regarding the severity of disability that these children and their families will experience. The findings also establish an initial point from which to monitor developmental trajectories, medical comorbidities (eg, seizures), effectiveness of interventions, and cumulative consequences on families.

Skills attained by infants with congenital Zika syndrome: Pilot data from Brazil.

The recent Zika outbreak and its link to microcephaly and other birth defects in infants exposed in utero have garnered widespread international attention. Based on the severity of birth defects the extent of impairment in these infants is expected to be profound; however, virtually nothing is known regarding the developmental and behavioral sequela of congenital Zika syndrome. This pilot study collected parent-reported patterns of development and sleep in 47 infants with confirmed congenital Zika syndrome who are being followed for clinical services at the Altino Ventura Foundation (FAV) in Recife, Brazil. With assistance from clinicians at FAV, caregivers completed Brazilian Portuguese versions of the Ages and Stages Questionnaire, 3rd edition (ASQ-3) and the Brief Infant Sleep Questionnaire (BISQ). All infants were between 13-22 months of age at the time of the assessment. At 16 months of age, none of the children displayed age appropriate developmental skills. Most (~ 75%) mastered some communication and gross motor skills at around a 6-8-month level. Communication and gross motor skills were relative strengths for the sample, while problem-solving and fine motor skills were relative weaknesses. Sleep was noted to be a problem for around 18% of the sample. In utero exposure to the Zika virus will have lifelong consequences for affected children and their families. Understanding the developmental and behavioral trajectories of affected infants will help identify appropriate family supports to improve quality of life.

Abordagem da violência doméstica pela Saúde Pública do Brasil no Programa Saúde da Família

Os objetivos da pesquisa foram: Observar a situação da violência doméstica contra as mulheres e as relações sociais de gênero na comunidade de Manguinhos (RJ); Explorar as barreiras contra as mulheres maltratadas e suas famílias no acesso aos serviços de saúde; Determinar a função das equipes de saúde da família em relação à violência doméstica; Identifícar possibilidades do enfrentamento da violência doméstica das equipe de saúde da família. Arquivo disponível para leitura e/ou download no ícone ao lado.