Family adaptation in families of individuals with Down syndrome from 12 countries.

Our current understanding of adaptation in families of individuals with Down syndrome (DS) is based primarily on findings from studies focused on participants from a single country. Guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, the purpose of this cross-country investigation, which is part of a larger, mixed methods study, was twofold: (1) to compare family adaptation in 12 countries, and (2) to examine the relationships between family variables and family adaptation. The focus of this study is data collected in the 12 countries where at least 30 parents completed the survey. Descriptive statistics were generated, and mean family adaptation was modeled in terms of each predictor independently, controlling for an effect on covariates. A parsimonious composite model for mean family adaptation was adaptively generated. While there were cross-country differences, standardized family adaptation mean scores fell within the average range for all 12 countries. Key components of the guiding framework (i.e., family demands, family appraisal, family resources, and family problem-solving communication) were important predictors of family adaptation. More cross-country studies, as well as longitudinal studies, are needed to fully understand how culture and social determinants of health influence family adaptation in families of individuals with DS.

Physical activity patterns of children and adolescents with Down syndrome: Using the Fitbit and parental proxy questionnaire.

PURPOSE: The purpose of this study was to assess physical activity (PA) levels in children and adolescents with Down syndrome (DS) using a commercially available activity tracker (Fitbit) and a parental proxy questionnaire. DESIGN AND METHODS: This cross-sectional study included two groups of individuals with DS (school-age children and adolescents) and one parent per child/adolescent. The school-age children and adolescents with DS wore the Fitbit for seven consecutive days. Parents completed the parental proxy questionnaire on the seventh day. Weekday and weekend PA levels for the two groups of individuals with DS were compared. In addition, PA levels obtained with the Fitbit were compared to parental responses. RESULTS: Complete data sets were available for 32 child-parent dyads. Sedentary time was higher for the adolescent group (p = .022), while light PA time was lower (p = .020). All measured PA patterns, excluding sedentary behavior, decreased on weekends in both groups: steps (p = .002), light PA time (p = .028), and moderate-to-vigorous PA time (p = .004). Parental proxy questionnaires underestimated actual PA levels. CONCLUSIONS: PA was lower in the adolescent group and during the weekend for both groups. PRACTICE IMPLICATIONS: Findings from this study suggest a need for tailored programs designed to increase weekend PA levels in school-age children and adolescents with DS in pediatric nursing research. The use of commercial activity trackers, such as the Fitbit, which are user-friendly and relatively affordable, is effective for pediatric nurses to monitor PA levels of children and adolescents with DS in clinical settings.

Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings.

Siblings of individuals with disabilities hold a pivotal and sometimes unappreciated position in the lives of their brother or sister. We sought to understand the unique challenges and opportunities in relationships between children with chromosome 18 conditions and their siblings and to identify the ways to support this relationship. Participants were recruited through the lay advocacy organization, the Chromosome 18 Registry & Research Society. Fifty-seven siblings from 36 families participated, using an investigator designed instrument, were asked to agree or disagreed with statements from four content areas (information and knowledge about the syndrome, feelings about the sibling relationship, involvement with and caregiving for their sibling, and support and advocacy). Siblings reported that they know their sibling with a disability very well and reported a wide range of emotions regarding their sibling. There was a strong sense of pride in their brother/sister's abilities, and many participants reported attempts to help others understand their brother/sister. Many siblings reported a dislike for the common assumption that their affected sibling is a burden on the family. Most participants reported feeling some degree of responsibility for their affected sibling, but many also reported that they enjoy this role. Sixty-three parents from 36 families responded to the survey. Most parents felt their typically developing children enjoyed teaching new things to their affected child as well as being a good role model for them. Most parents also felt their typically developing child was comfortable telling others about their sibling's condition. Recommendations for interventions and future research are discussed.

Adaptation at the Family Level in Families of Individuals With Down Syndrome: A Scoping Review.

Down syndrome (DS) is a chromosomal disorder associated with intellectual and physical disabilities and has historically been viewed by health care providers through a negative lens when considering the effect the condition has on the individual, family, and community. The purpose of this scoping review was to provide an overview of recent research concerning adaptation in families of individuals with DS with a focus on family adaptation rather than individual or dyadic adaptation. Three literature indexes were searched from 2017 to 2022, with 41 articles included. Foci of the studies included strength/resilience, stress/coping, and negative/challenge. Thirteen studies reported using a family framework. Multiple methodological approaches and family measures were used in the studies and are outlined. Findings from this review show there has been a shift in focus when researching families of individuals with DS from a negative and challenging experience to one of strength and resilience.

Dental health care for children with Down syndrome: Parents' description of their children's needs in dental health care settings.

A visit to the dental clinic may be challenging for a child with Down syndrome due to medical and oral health problems as well as communication problems. The aim of the present study was to explore how parents of children with Down syndrome describe their child's needs in the dental health care setting. In a survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis and resulted in five categories: "Need for continuity of care in dental health care"; "Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities"; "Need for dental health care professionals to use a caring approach with children with Down syndrome"; "Need for the child with Down syndrome to be prepared to participate in their dental health care visit" and "Need for the child with Down syndrome to be given the same rights as typically developing children". To support children with Down syndrome in an optimal way, dental health care needs to be tailored to meet the child's unique needs. In addition, dental health care professionals need knowledge of and expertise in the care of children with Down syndrome.

Quality of life in individuals with Down syndrome aged 4 to 21 years.

BACKGROUND: To date, investigations of quality of life (QoL) in children with Down syndrome (DS) are rather limited. The purpose of this study was twofold: to examine QoL in children with DS and to explore possible differences in the QoL by age and gender. METHODS: A cross-sectional study of 211 parents of children with DS was conducted using an online survey that included a consent form, a demographic questionnaire and the English version of KidsLife, which is a measure of children's QoL. RESULTS: Our results demonstrated moderate or favourable levels of QoL except for the emotional well-being domain among children with DS. The children's QoL showed no variance by gender. However, emotional and material well-being, interpersonal relations and social inclusion varied by age. CONCLUSIONS: The current findings provide important evidence that will help healthcare, educational and social services professionals to understand the multiple aspects of QoL in children with DS and support parents in their efforts to ensure the child's QoL. The results also point to the need to develop interventions aimed at improving QoL in those areas where children with DS are at increased risk for poorer QoL.

Measurement of Family Management in Families of Individuals With Down Syndrome: A Cross-Cultural Investigation.

Down syndrome (DS) is the most common genetic cause of intellectual disability worldwide. The purpose of this analysis was to determine the internal consistency reliability of eight language versions of the Family Management Measure (FaMM) and compare family management of DS across cultures. A total of 2,740 parents of individuals with DS from 11 countries completed the FaMM. The analysis provided evidence of internal consistency reliability exceeding .70 for four of six FaMM scales for the entire sample. Across countries, there was a pattern of positive family management. Cross-cultural comparisons revealed parents from Brazil, Spain, and the United States had the most positive family management and respondents from Ireland, Italy, Japan, and Korea had the least positive. The rankings were mixed for the four remaining countries. These findings provide evidence of overall strong internal consistency reliability of the FaMM. More cross-cultural research is needed to understand how social determinants of health influence family management in families of individuals with DS.

mHealth Family Adaptation Intervention for Families of Young Children with Down Syndrome: A Feasibility Study.

PURPOSE: The aim of this study was to explore the feasibility of using the mHealth Family Adaptation Intervention (FamilyAdapt-DS), with families of young children with Down syndrome (DS), and to assess the effect of participating in this mHealth intervention on family adaptation. DESIGN AND METHODS: A one-group pre-test post-test design was employed. Sixteen parents from eight families of young children with DS (under the age of three years) participated in this study between September 2015 and September 2016. A Wilcoxon signed rank test was used to identify the difference between the pre-test and post-test scores. RESULTS: All parents perceived that the program was feasible to use and they were willing to recommend the intervention to other families. Improvements were noted between pre-test and post-test scores. For fathers, views of their child's daily life became more positive, their child's condition became more manageable, their problem-solving communication became more affirming and their family functioning scores improved. Mothers reported less difficulty managing their child's condition. CONCLUSIONS: These findings suggest that FamilyAdapt-DS is a feasible m-Health intervention for families of young children with DS; however, scaling up of this program with larger and more diverse samples is needed to test its effectiveness. PRACTICE IMPLICATIONS: Nurses and other healthcare providers may find it helpful to use therapeutic conversations and mHealth interventions such as the one described in this paper to tailor the care they provide to families of young children with DS.

Parent-Reported Contribution of Family Variables to the Quality of Life in Children with Down Syndrome: Report from an International Study.

PURPOSE: The intent of this study was to determine parents' views of the contribution of family variables to the quality of life (QoL) of children with Down Syndrome (DS). Based on prior research, we hypothesized that parents would report that family variables reflecting positive aspects of family functioning contributed to better QoL; and family variables reflecting the negative aspects of family functioning contributed to poorer QoL. DESIGN AND METHODS: A cross-sectional study was carried out. Invitation letters were sent to DS support groups. Upon agreement, the parents of the children were sent a link to an online survey that included a consent form, demographic questionnaire, and child and family measures. RESULTS: Results demonstrated the contribution of family demands to children's interpersonal relations. Family appraisals concerning the child and the family's ability predicted the children's physical and material well-being, personal development, self-determination, social inclusion, interpersonal relations, and rights. Family problem-solving served as a prominent predictor for children's physical and emotional well-being, personal development, interpersonal relations, and rights. Also, family resources predicted various aspects of children's QoL including physical, emotional, and material well-being, self-determination, social inclusion, interpersonal relations, and rights. CONCLUSION: Results confirmed the significant relationship between family and children's QoL variables. Family appraisal and family problem-solving were especially identified as significant predictors of children's QoL that can be targeted for family interventions, since the family variables are modifiable aspects of family life. PRACTICE IMPLICATIONS: Nurses can use current findings to develop interventions to enhance QoL of children with DS and families.

Adaptation to Technology Use in Families of Children With Complex Communication Needs: An Integrative Review and Family Theory Application.

Families with children who have developmental disabilities and complex communication needs (CCNs) face challenging demands affecting family adaptation. Many children with CCNs use augmentative and alternative communication (AAC) devices to support communication, yet little is known about family adaptation to such technology. To fill this gap, an integrative review, guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation was conducted to assess conceptual foundations and the state of the science of family adaptation among children utilizing AAC. Web-based searches were conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis and the Mixed Methods Appraisal Tool. Thirty-three studies met eligibility. Findings demonstrated that to enhance the science underpinning family adaptation to AAC use, future research should be grounded conceptually and address important components of the Resiliency Model. Work in this emerging area will identify and facilitate nursing efforts to assist families as they adapt to communication technology.

Family management of childhood chronic conditions: Does it make a difference if the child has an intellectual disability?

The purpose of this analysis was to assess the applicability of the Family Management Measure (FaMM) to families in which there was a child with an intellectual disability versus a chronic condition. Drawing on data from 571 parents of children with a chronic physical condition and 539 parents of children with Down syndrome, we compared the two groups across the six FaMM scales. After accounting for the covariate effects of race, ethnicity, family income, and child age, we found significant differences in four of the six FaMM scales, with parents of children with Down syndrome reporting a significantly more positive view on the Condition Management Effort and View of Condition Impact scales and a significantly less positive view on the Child's Daily Life and Condition Management Ability scales than parents of children with a chronic physical condition. There were no significant differences between groups on the Family Life Difficulty and the Parental Mutuality scales. The analysis provided evidence of the applicability of the FaMM for studying families in which there is a child with Down syndrome and its utility in identifying the common and unique challenges of family management between the groups.

Adaptation in families of children with Down syndrome in East Asian countries: an integrative review.

AIM: The purpose of this integrative literature review was to understand the experiences of East Asian families of children with Down syndrome and identify factors affecting their adaptation in the Resiliency Model of Family Stress, Adjustment and Adaptation. BACKGROUND: Socio-cultural factors influence how well families adapt following the birth of a child with Down syndrome. Existing literature in this area has focused primarily on families from Western cultures. This is problematic because nurses care for families from all over the world. Therefore, the focus of this review is on families of children with Down syndrome living in East Asia, where Confucianism is dominant. DESIGN: Integrative literature review. DATA SOURCES: Online databases (i.e. PubMed, CINAHL and PsycINFO) and a public search engine (i.e. Google Scholar) were used along with manual searches of reference lists and major journals. Studies were limited to original publications written in English and published between 1990-2014. REVIEW METHODS: Two authors independently performed integrative review processes proposed by Whittemore and Knafl and a quality assessment using the Mixed Methods Appraisal Tool. RESULTS: Like families in Western cultures, some East Asian families of children with Down syndrome adapted well and even thrived while others struggled. Various socio-cultural factors, including some associated with Confucianism, played a role in how individuals, dyads and families adapted. CONCLUSION: An understanding of socio-cultural influences can help nurses implement culturally sensitive family-centred interventions with families of children with Down syndrome. It may also facilitate policy changes concerning resources for these families.

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross-sectional study.

Recent advances in genomics and related technologies have the potential to improve health care throughout the world. In this cross-sectional study, we examine genetics education, knowledge, and genetics-related experiences among the nurses and physicians who provide primary care in a Brazilian city. Fifty-four healthcare professionals from family health units participated in the study (response rate: 90%). Data were collected using a structured 36-item questionnaire divided into five axes: sociodemographic data and academic background; genetics education; genetics knowledge; genetics-related experiences in family practice; and knowledge regarding the National Policy for Comprehensive Care in Clinical Genetics in the Unified Health System. Although most participants (85.2%) acknowledged receiving some genetic content during their undergraduate education, the majority (77.8%) advised that they did not feel prepared to deliver genomics-based health care in primary care. The results suggest that nurses and physicians often lack the knowledge to provide genomics-based health care in primary care. Therefore, continuing education in genetics/genomics should be provided to primary healthcare professionals in order to enhance family practice and compliance with national policies.

Tips for Developing a Successful Family Research Proposal.

Based on the authors' experiences conducting family research using varied methodological and conceptual approaches, the intent of this article is to offer practical advice for developing a successful research proposal that builds on existing work and makes a compelling case for the investigator's family focus, study design, and analytic approach. The article highlights key challenges unique to family research and offers suggestions and strategies for addressing the challenges.

How the Child's Gender Matters for Families Having a Child With Congenital Adrenal Hyperplasia.

Children with congenital adrenal hyperplasia (CAH) are exposed to high levels of testosterone in utero often resulting in nontypical genitalia at birth for girls. The purpose of this analysis, which draws on data from a larger study, was to examine, based on the gender of the child, the family experiences of having a child with CAH. Sixteen parents were interviewed, and comparisons were made across all categories coded in the parents' interviews to examine similarities and differences in the experiences of families based on the child's gender. Families having a daughter with CAH experienced additional challenges when compared with families having a son. These include fear of stigmatization, challenging surgical decisions, and concerns regarding disclosure of the condition. Acknowledging this and creating support programs tailored for girls that address surgical procedures and complications resulting from being born with elevated testosterone are critical to promoting a healthy family and child response.

Delays and Disabilities: NP Screening and Care Management.

Neurodevelopmental Disorders (ND) impair functioning and are associated with increased physical and psychological health risks. ND care is increasingly being provided by NPs in primary care settings. To assess NP's knowledge and care management practices for pediatric patients with potential or existing ND, practicing NPs in North Carolina were invited to complete an online survey. NC NP's provide care to ND patients in a variety of settings and have varied levels of experience with ND. Differences in knowledge, screening, and management practices are identified. Methods for improving outcomes and supporting NPs providing care for this at-risk population are discussed.

Looking for Trouble: Preventive Genomic Sequencing in the General Population and the Role of Patient Choice.

Advances in genomics have led to calls for developing population-based preventive genomic sequencing (PGS) programs with the goal of identifying genetic health risks in adults without known risk factors. One critical issue for minimizing the harms and maximizing the benefits of PGS is determining the kind and degree of control individuals should have over the generation, use, and handling of their genomic information. In this article we examine whether PGS programs should offer individuals the opportunity to selectively opt out of the sequencing or analysis of specific genomic conditions (the menu approach) or whether PGS should be implemented using an all-or-nothing panel approach. We conclude that any responsible scale-up of PGS will require a menu approach that may seem impractical to some, but that draws its justification from a rich mix of normative, legal, and practical considerations.

An update of childhood genetic disorders.

PURPOSE: Thousands of single gene, mitochondrial, and chromosomal disorders have been described in children. The purpose of this article is twofold. The first is to increase nurses' awareness of new developments in genetic disorders that are commonly seen in practice and taught in schools of nursing. The second is to illustrate important genetic concepts of relevance to nurses who care for infants, children, or adolescents. ORGANIZING CONSTRUCT: This article is organized into four sections: one that describes new developments in a well-known disorder, a second that discusses the process and potential outcomes of diagnosing a very rare disorder, and the third and fourth sections that describe select conditions caused by single gene mutations. METHODS: Clinical expertise was paired with literature review to present evidence-based current information. Implications for nursing practice are highlighted throughout the article. Citations of publicly available evidence-based online resources are used so nurses can continue to use these in their practices. FINDINGS: Diagnosis and treatment strategies for children with genetic disorders are rapidly changing. While it is impossible to stay current in all disorders, resources are available to help nurses provide evidence-based care to children with genetic disorders. CLINICAL RELEVANCE: Nurses have an important role in the early identification of children with genetic disorders and in facilitating their access to appropriate services and resources. Nurses can also help families understand why genetic testing may be necessary and assure families are informed throughout the process.

A Mixed Methods Analysis of Care Coordination Needs and Desirable Features of an M-Health Application to Support Caregivers of Children With Down Syndrome.

INTRODUCTION: Care coordination is critical for the management of health care needs of children with Down syndrome by encompassing management of health information and linking of providers. This study was designed to identify caregiver and health care provider experiences of care coordination to inform the development of an m-health application. METHOD: In this mixed methods study, caregivers completed survey materials addressing the child's health care needs, m-health use, and care coordination experiences. A sample of caregivers and health care providers were interviewed to further understanding. RESULTS: Most caregivers reported having a primary health care provider but wanted increased communication and help with care coordination. Interview data identified themes related to care coordination challenges, including information management, information sharing, use of health care guidelines, tracking health data, resources, technology use, previous application use, and coordination of schedules. DISCUSSION: Qualitative themes were linked to desired features of an m-health application to aid in development.