Impacto do diagnóstico de Síndrome de Down na perspectiva materna / Impact of the diagnosis of down syndrome in the maternal perspective / Impacto del diagnóstico del síndrome de down desde la perspectiva materna

Objetivo: compreender as percepções maternas acerca do diagnóstico de Síndrome de Down (SD) de seus filhos quando crianças. Método: estudo exploratório-descritivo com abordagem qualitativa realizado com 9 mães de crianças com SD em um hospital público de nível terciário no município de São Paulo. A coleta dos dados ocorreu por meio de entrevistas individuais e semiestruturadas, guiadas por roteiro de tópicos. Os dados foram analisados por meio da análise temática de conteúdo e à luz dos princípios de ancoragem e objetivação da Teoria das Representações Sociais. Resultados: Os dados foram analisados e emergiram duas categorias principais: 1) as percepções maternas em relação à comunicação do diagnóstico de SD do filho; e 2) as percepções maternas acerca do impacto do diagnóstico de SD do filho, com subcategorias interligadas. Conclusão: constatou-se manejo predominantemente inadequado dos profissionais ao comunicarem o diagnóstico de SD, o que potencializou as reações emocionais de sofrimento, que não se restringiram ao momento da notícia. As reações podem ser amenizadas ou potencializadas com a vivência da maternagem e com interações familiares, sociais e com profissionais de saúde.(AU)

Objective: to understand maternal perceptions about the diagnosis of Down Syndrome (DS) of their children as children. Method: Exploratory-descriptive study with a qualitative approach carried out with 9 mothers of children with DS in a tertiary public hospital in the city of São Paulo. Data collection took place through individual and semi-structured interviews, guided by a script of topics. Data were analyzed using thematic content analysis and considering the principles of anchoring and objectification of the Theory of Social Representations. Results: data were analyzed, and two main categories emerged: 1) maternal perceptions regarding communication of the child's DS diagnosis; and 2) maternal perceptions about the impact of the child's DS diagnosis, with interconnected subcategories. Conclusion: There was predominantly inadequate management by professionals when communicating the diagnosis of DS, which potentiated the emotional reactions of suffering, which were not restricted to the moment of the news. Reactions can be mitigated or enhanced with the experience of motherhood and with family and social interactions and with health professionals.(AU)

Objetivo: comprender las percepciones maternas sobre el diagnóstico del niño con Síndrome de Down (SD). Método: estudio exploratorio-descriptivo con enfoque cualitativo, realizado con madres de niños con SD, en un hospital público de tercer nivel, en el municipio de São Paulo. La recolección se realizó a través de entrevistas individuales y semiestructuradas, regidas por un guión de temas. Los datos fueron analizados mediante análisis temático de contenido y a la luz de los principios de anclaje y objetivación de la Teoría de las Representaciones Sociales. Resultados: participaron 9 madres de niños con SD. Los datos se analizaron y surgieron dos categorías principales: 1) Percepciones maternas sobre la comunicación del diagnóstico de SD del hijo, y 2) Percepciones maternas sobre el impacto del diagnóstico de SD del hijo, con subcategorías interconectadas. Conclusión: se constató manejo predominantemente inadecuado de los profesionales en la comunicación del diagnóstico de SD, lo que potenció las reacciones emocionales de sufrimiento, que no se restringieron al momento de la noticia. Las reacciones se pueden mitigar o mejorar con la experiencia de la maternidad, las interacciones con los miembros de la familia, los profesionales de la salud y sociales.(AU)

Anesthetic Management of Elderly Patients With Down Syndrome: A Case Report.

In 1930, the life expectancy of patients with Down syndrome was about 10 years; today, their life expectancy is more than 60 years. With aging, there is an increased need for anesthesia and surgery. There is, however, no published information regarding the anesthetic management of older adults with Down syndrome. In this report, we described the anesthetic management of a 50-year-old woman with Down syndrome undergoing major cervical spine surgery. Components of the anesthetic that we thought would be difficult such as intravenous line placement and endotracheal intubation were accomplished without difficulty. Despite our best efforts, our patient nevertheless experienced both emergence delirium and postoperative vomiting. We advocate that physicians, advanced practice providers, and registered nurses be aware of the unique perianesthesia needs of older patients with Down syndrome.

Physical inactivity among parents of children with and without Down syndrome: the National Health Interview Survey.

BACKGROUND: Emerging evidence suggests that parents of children with intellectual disabilities have poorer physical health than parents of typically developing children. However, it is unclear why. The purpose of this study was to examine differences in physical inactivity among a population-based sample of parents of children with and without Down syndrome. METHODS: Data for this analysis come from 11 waves (2005-2016) of the National Health Interview Survey, a U.S. nationally representative survey. Minutes per week of leisure-time physical activity were ascertained by self-report with physical inactivity defined as reporting no leisure-time physical activity. Parents were classified as (1) parents of typically developing children, (2) parents of children with Down syndrome, (3) parents of children with a developmental disability that had a high functional impact (autism, cerebral palsy, vision impairment or hearing impairment), (4) parents of children with an intellectual or developmental disability, but who did not have Down syndrome or a high-impact developmental disabilities, and (5) parents of children with other special health care needs. RESULTS: Parents of children with Down syndrome were more likely to be physically inactive compared with parents of typical children (odds ratio [OR]: 1.51 [95% confidence interval, CI: 1.08, 2.12]) and had the lowest likelihood among all subgroups of parents to children with developmental disabilities or special health care needs. Parents of children with Down syndrome also had a significantly greater likelihood of being physically inactive compared with parents of children with other special health care needs (OR: 1.56 [95% CI: 1.11, 2.19]), with developmental disabilities without high functional impact (OR: 1.58 [95% CI: 1.12, 2.24]) and with developmental disabilities with high functional impact (OR: 1.46 [95% CI: 1.03, 2.08]). CONCLUSION: Parents of children with Down syndrome are more likely to be physically inactive compared with parents of typically developing children and parents of children with other developmental disabilities or special health care needs. These findings suggest that parents of children with Down syndrome are a population in urgent need for interventions/programmes that promote physical activity, particularly as child well-being is linked to caregiver health.

Managing health changes for people with a learning disability in a residential care home setting.

BACKGROUND: People with learning disability (LD) have complex comorbidities that develop at an earlier age than the general population and with which they are now living longer. Identification, assessment and management of these conditions is important but challenging. AIM: To develop resources with care staff to enable them to recognise and manage changes and decline in the health of a person with a LD. METHODS: Two resources (PIP-LD and CIRC) were developed through undertaking a literature review; networking with experts; and collaborating with staff in the care homes for people with a LD. Care staff then used these resourcesto review their residents. FINDINGS: The PIP-LD and CIRC were used in 39 care homes. The PIP-LD empowered staff to meet people's immediate health needs, and the CIRC helped them to recognise changes or a decline. CONCLUSIONS: The combined use of the PIP-LD and the CIRC enabled care staff to recognise the signs and symptoms of each person's comorbidities early, and to identify and manage changes when their health declined.

Transient Myeloproliferative Disorder: An Update for Neonatal Nurses.

Down syndrome (DS) is a well-known genetic disorder that affects 700-1,000 infants per year. One particular comorbidity of DS is transient myeloproliferative disorder (TMD), a disease characterized by leukocytosis with elevated blast counts. Approximately 10 percent of DS infants develop TMD, which usually manifests during the first week of life and can lead to an extended hospitalization in a NICU. In addition to hallmark hematologic findings, other manifestations include jaundice, conjugated hyperbilirubinemia, hepatomegaly, and pericardial or pleural effusions. TMD generally resolves spontaneously in the first three months of life with the provision of timely medical management; however, survivors are at increased risk of developing acute myeloid leukemia (AML). Neonatal nurses need to have knowledge of this disorder to facilitate screening of DS infants and optimize family education and coordination of care.

Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders.

BACKGROUND: Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors was also explored. METHOD: Parents of children with WS (n = 107), DS (n = 79) and ASD (n = 79) completed a background questionnaire, a parental stress questionnaire and a satisfaction with life questionnaire. RESULTS: Although all groups displayed similar levels of parental stress, the factors that influenced this stress differed between the groups. There were also differences for life satisfaction and relationships between parental stress and individual and contextual factors. CONCLUSIONS: Although parents of children with NDs are not at an increased risk of parental stress, the results suggest that interventions should be syndrome-specific.

Aging Individuals With Down Syndrome and Dementia as Teachers: Learnings from Staffin a Developmental Disability Program in Long-Term Care.

Older adults with Down syndrome (DS) and dementia are an emerging sub-population. With much longer life spans than decades ago, issues have arisen as to where these aging adults will live and how nurses and other staff in facilities can provide effective care to these individuals. The current article presents a research study that examined the learnings of nurses and staff members working within a western Canadian program for older adults with DS and dementia. These learnings include: the importance of learning from each other; importance of collaboration; how individuals with developmental disabilities communicate; older adults with DS and dementia differ from older adults with dementia; and residents' impact on staff. [Journal of Gerontological Nursing, 45(5), 17-22.].

Sleep problems in adults with Down syndrome and their family carers.

BACKGROUND: Sleep disturbance is common and can have harmful psychological and physical effects. While sleep problems in children with Down syndrome (DS) have received a reasonable amount of attention, very little has been written about this topic in adults with DS. METHOD: The present study consisted of an online survey completed by 100 family carers of adults with DS. RESULTS: High rates of sleep problems of different types were reported in the adults with DS comparable to those found in children with DS in previous research. Significant associations were found between sleep problems and body mass index, excessive daytime sleepiness and a range of health and psychological problems. Low rates of treatments for sleep problems were reported. The majority of family caregivers felt their own sleep was affected. CONCLUSIONS: Sleep problems in adults with DS are common and varied. Assessment and treatment of such problems are likely to improve quality of life.

Being a dad to a child with Down's syndrome: Overcoming the challenges to adjustment.

BACKGROUND: Historically, research exploring the impact of having a child with an Intellectual Disability (ID), has focussed exclusively on mothers. The present study aimed to investigate fathers' experiences of parenting a child with Down's syndrome (DS), their contributions, influences on family functioning and inclusion in their child's support provision. METHOD: Semi-structured interviews were conducted with 15 fathers. Interviews were analysed using Grounded Theory (GT). RESULTS: Fathers' adjustment appeared to be on a fluid trajectory with three key categories influencing this: "Accommodating the Child," "Adapting the Parental/Spousal Role" and "Adapting Society." CONCLUSIONS: The accounts uncovered fathers' adjustment trajectory to parenting a child with DS, concluding that despite practical and emotional challenges, fathers employed strategies to achieve positive adjustment. Fathers identified the need for services to recognize their role and involve them in their child's support provision. Implications for clinical practice and future research are discussed.

Listening to fathers: Personal impacts of raising children with Down syndrome.

The aim of this qualitative study was to contribute to an understanding of how biological fathers (N = 311) believe having a child with Down syndrome has impacted them personally. Thematic analysis was used to derive meaning from responses to open-ended survey questions. In addition to describing personal impacts, fathers shared how their perspectives shifted over time and possible contributory factors. The results indicated that fathers were often deeply impacted by the experience of parenting a child with Down syndrome. The vast majority expressed positive changes in terms of personal growth; however, it is important to note that positive emotions often coexisted with more distressing ones such as anxiety and loss. Most fathers reported a positive trajectory in terms of their adjustment and many attributed it to learning that their negative assumptions about people with Down syndrome were not accurate. Implications for practitioners and researchers are discussed.

Breastfeeding Experiences of Mothers of Children with Down Syndrome.

Children with Down syndrome are less likely to be breastfed than typically developing children, and breastfeeding has a lower duration compared to recommendations of the World Health Organization. The aim of this study was to understand the breastfeeding experiences of mothers of children with Down syndrome, including their perceptions of the breastfeeding process and their specific practices. This is a qualitative study with 10 participants, mothers of children aged between 2 months and 9 years. Snowball sampling was used for participants' selection, and semi-structured interviews conducted in participants' households. Three categories emerged: "the breastfeeding experience," involving the process of breastfeeding, the breast milk, feelings, and difficulties of this practice; "experiences of health care," encompassing the support received by health professionals, dissatisfaction with health services, lack of support in breastfeeding, and discontent with health professional behavior; and "learning about Down syndrome," with search for information by parents and advice to health professionals. In this study, we found evidence that breastfeeding success relies very much on mothers' willingness and support of health professionals, namely, nurses. Findings from this study suggest that support of a multidisciplinary team is essential to the success of breastfeeding. Greater awareness is needed regarding the unique rewards and challenges of breastfeeding these infants, as well as how families cope with the ongoing challenges. Therefore, this research is relevant to understand the experiences of mothers of children with DS about breastfeeding, identifying the inhibiting factors, in order to create more appropriate strategies to intervene and implement practices that contribute to the support and promotion of breastfeeding. Results will also influence the education of health professionals, emphasizing the importance of multidisciplinary teams for a comprehensive care and contributing to increasing evidence available about this topic.

Parenting behaviour and executive function in children with Down syndrome.

BACKGROUND: Parenting behaviours influence many domains of child development, and recent work has demonstrated the specific effects of parenting on the development of executive function (EF) abilities. The relationship between parent-child interaction patterns and EF has been examined in typically developing (TD) children but has not yet been examined in dyads where the child has a diagnosis of Down syndrome (DS). METHOD: The current study examines the differences in patterns of parenting behaviours between DS dyads and dyads with TD children equated on nonverbal mental age. DS dyads (n = 42), child ages 59 to 118 months, and TD dyads (n = 28), child ages 30 to 49 months, participated in a modified version of the Parent-Child Challenge Task. Parent directive and teaching behaviours were coded, along with child compliance and noncompliance. Child participants also completed a laboratory measure of inhibition and working memory, and parents completed the Behaviour Rating Inventory of Executive Function-Preschool. RESULTS: There was a greater frequency of parenting directives and child compliance in the DS dyads, and parents of children with DS were more likely to follow child compliance with directives than parents of TD children. In both groups, parenting directive behaviour was a significant predictor of child EF laboratory performance. CONCLUSIONS: Results characterise the relationship between specific parenting behaviours and child EF in DS and TD dyads. The implications for parent training and intervention are discussed.

Conhecendo a vivência de mães de crianças com síndrome de Down / Knowing the experience of mothers of children with Down syndrome

Conclusão: A vivência de mães de crianças com SD é difícil, mas prazerosa, visto que dela depende todos os cuidados direcionados a criança. Desde o impacto do diagnóstico até o cotidiano do cuidado, muitas são as dificuldades enfrentadas por elas, incluindo a descriminação e os cuidados diários que exige muito amor e determinação. Suas crianças necessitam participar de inúmeras atividades que lhes estimulem ao máximo, para que possam desenvolver suas habilidades. Além disso, as idas e vindas a diferentes especialistas também contribuem para a sobrecarga de trabalho. Para tanto, estas mães devem receber apoio tanto da família, quanto da equipe multiprofissional e dos grupos de apoio, com vista a empoderá-las para o cuidado.

Is the duty of candour under threat?

Emeritus Professor Alan Glasper, University of Southampton, dissects the case of paediatrician Dr Hadiza Bawa-Garba and registered nurse Isabel Amaro, and how their convictions might affect the duty of candour legislation.

Hope, Coping, and Relationship Quality in Mothers of Children With Down Syndrome.

Parenting a child with Down syndrome may pose unique challenges for parents' relationship quality. This study used structural equation modeling with a sample of 351 mothers of children with Down syndrome to test if hope mediated the association between mothers' various coping behaviors and mothers' relationship quality. Hope was defined as a generalized positive state that comes from a personal sense of agency. Results indicated a greater degree of religious coping and internal coping were each significantly associated with more hope, whereas support seeking was not related with more hope. Higher hope was significantly associated with greater relationship quality. Bootstrapped indirect effects from both religious coping and internal coping to hope, and then hope to relationship quality, were identified. Implications for therapists and future research are described.

Envejecimiento de las personas con síndrome de down. Un nuevo reto para la salud / Aging of people with down syndrome: a challenge for health care

En los últimos años se ha producido un alargamiento en la esperanza de vida de las personas con síndrome de Down que aunado a la susceptibilidad asociada a su carga genética y a los estilos de vida que en general son poco favorables los expone a un importante incremento en el riesgo de desarrollar enfermedades crónicas. Lo anterior puede generar un importante impacto en su estado de salud y bienestar y por ello genera la necesidad de promover la integración de los adultos con síndrome de Down en los programas de salud, habilitándolos para su autocuidado, así como capacitar al personal de salud para establecer una comunicación efectiva con ellos, ya que al igual que cualquier persona requieren envejecer con más salud, más recursos sociales, más formación y más tiempo libre que les permita una mejor calidad de vida

In recent years life expectancy in Down Syndrome people has been increased which together with susceptibility associated at genetic factors and lifestyles will increase the risk to developing chronic diseases, it will bring specific changes that add to the actual conditions may generate important changes in health condition in these people. This situation genres the need to promote the integration of adults with Down Syndrome in health programs, enable them for self-care and train health personnel to establish effective communication with them because any people need to get older healthy, with more social resources, information and free time that allowed a better quality of life

Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals With Down Syndrome.

The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data about the quality of current relationships and of their intention to provide care for their brother/sister with Down syndrome in the future. Only behavior problems in the child with Down syndrome predicted warmth of the current adult relationship. Although adult sibling relationships were reported to be warm, the quality of neither the current nor the past relationship was associated with the reported intention to provide care.