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1.
Siaw H Wong Belinda J McClaren Alison Dalton Archibald Alice Weeks Tess Langmaid Monique M Ryan Andrew Kornberg Sylvia A Metcalfe 《European journal of human genetics : EJHG》2015,23(10):1294-1300
The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents'' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n=49 during 2005–2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child''s development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents'' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children''s treatment. 相似文献
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Background
The importance of early identification and intervention for children with autism spectrum conditions (ASC) has been established. However, there are often considerable delays from initial concern (by parent or professional) to diagnosis. Little is known about parents'' experiences of primary care in the pre-diagnosis period.Aim
To identify feasible improvements to the management of primary care consultations with parents of children who might have ASC.Design and setting
UK-based qualitative interview study.Method
Semi-structured interviews with a diverse qualitative sample of 24 parents of children, aged between 3 and 11 years, who were diagnosed with ASC.Results
Three types of parental concern emerged: first, parents who had no concerns about their children''s development before their diagnosis; secondly, parents who reported that they had some concerns but had not raised them with health professionals (passive concern); and thirdly, parents who had raised concerns about their children with health professionals (active concern). The passively concerned parents could not pin down exactly what it was about their children''s development that concerned them. Many of the actively concerned parents had been prematurely reassured by health professionals that there was nothing wrong. This left them feeling isolated and alone. Actively concerned parents who already had a child diagnosed with ASC did not experience a delay in diagnosis.Conclusion
Health professionals should acknowledge parents'' concerns carefully; contrary to intentions, early reassurance may result in parents feeling that their concerns have not been heard. Parents may be the best resource in identifying ASC. 相似文献3.
《Annals of human biology》2013,40(4):429-430
Background: Implicit in much of the literature on childhood obesity is a hierarchical, unidirectional understanding of intergenerational relations, which highlights parents' responsibility for children's food and eating practices.Aim: Drawing upon alternative understandings from the social science literature, which offer more nuanced insights into family life and generational relations, this paper explores, through parents' narratives, the construction of family food environments and family eating practices in families with a child with obesity.Subjects and methods: Data were generated through individual, semi-structured interviews with parents of children attending a community-based obesity intervention programme in an inner city area in the North of England. Forty-nine interviews were conducted with 25 parental adults from 19 families.Results: Parent's own concerns over their body weight and size and children's social experiences in a fat-averse society can both work to flatten the traditional familial, adult–child hierarchy. Both parents and children actively contribute to the construction of family life and family eating practices.Conclusion: Findings may pose challenges for contemporary health promotion and policy agendas which presume that parents have the ability and resources to control and direct children's eating in a unidirectional and authoritative manner. 相似文献
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Sally Lawton Chriselle Hickerton Alison D Archibald Belinda J McClaren Sylvia A Metcalfe 《European journal of human genetics : EJHG》2015,23(5):575-580
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families'' experiences leading up to the diagnosis have not been described, but are important when considering the potential for a diagnostic odyssey. Using a mixed methods approach, data were collected from interviews and a national survey of families of children with SMA to explore their experiences of this journey. The combined findings (n=28) revealed that the journey to receiving a diagnosis was protracted. The time from first noticing symptoms to finally receiving a diagnosis was emotional and frustrating. Once parents or other family members became aware of symptoms, almost all had consulted with multiple different health professionals before the diagnosis was ultimately made. Not surprisingly, receiving the diagnosis was devastating to the families. The nature of the information and the way it was given to them was not always optimal, particularly because of the difficulties predicting clinical severity. Most felt that their child could have been diagnosed earlier and, although there were mixed views around the benefit of this for their child, they felt it may have reduced the emotional impact on families. Overall, families were more in favour of population carrier screening for SMA when compared with newborn screening of the population. Despite an increasing awareness of SMA, the diagnostic delay continues to have negative impacts on families. 相似文献
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Tally Moses 《Journal of community psychology》2010,38(6):781-798
Currently, little is known about adolescents' self‐stigma experiences as mental health (MH) treatment recipients. Hence, this study addresses the following two questions: (a) what are adolescents' and parents' perceptions of stigma and perceptions of the cause, controllability, and anticipated outcome (illness perceptions) of adolescents' MH problems? (b) to what extent do illness perceptions (adolescents and parents) and parents' own stigma experiences relate to adolescents' self‐stigmatization? The results, based on data from separate interviews with a voluntary sample of 60 adolescent–parent dyads, clients of MH wraparound services, suggest that approximately 20% of adolescents and parents reported significant concerns related to self‐stigmatization. Using multivariate analyses, we found that the three most prominent factors associated with adolescents' self‐stigma ratings included adolescents' perceptions of social skill deficits and trauma as causal factors pertaining to their mental health challenges, as well as parents' inclination to conceal their child's MH problems from others. © 2010 Wiley Periodicals, Inc. 相似文献
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This study examined parents' perceptions of how school and neighborhood contribute to the psychological wellness of their 6‐ to 12‐year‐old children. Content analysis of 260 interviews explored parents' perception and identified the key aspects of school and neighborhood. At school, two assets stood out: emotional support and a supportive learning milieu. Qualities that parents valued about the neighborhood included child‐friendliness, environmental amenities, and the presence of cordial and supportive neighbors. Parents living in disadvantaged neighborhoods differed on many points in their perceptions from parents living in wealthier neighborhoods, reflecting disparities in the environments in which they live and raise their children. © 2006 Wiley Periodicals, Inc. 相似文献
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J.C. Sapp D. Dong C. Stark L.E. Ivey G. Hooker L.G. Biesecker B.B. Biesecker 《Clinical genetics》2014,85(2):120-126
Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their children's sequencing results. We conducted semi‐structured interviews with 25 parents of 13 minor probands with a variety of rare genetic conditions. Parents were asked to discuss their preferences to receive four types of results from exome sequencing. Many parents preferred to receive all types of results. Parents had the most positive attitudes toward learning about variants that predispose to disorders treatable or preventable in childhood. They had reservations about learning about predispositions for untreatable adult‐onset conditions and carrier status for recessive conditions. Parents described their success in coping with their child's condition as evidence for an ability to manage any additional negative health information. They felt responsible for learning about secondary variants, desiring a gain in control over their child's health. Our findings suggest that investigators should incorporate parents' perceptions of the value in receiving secondary variant information about their children when designing studies employing exome sequencing. 相似文献
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《Genetics in medicine》2019,21(12):2791-2797
PurposeWe describe parental perceptions of and experiences with genomic sequencing (GS) in the care of seriously ill children. Understanding parents’ perspectives is vital for clinicians caring for children, given the uptake of genomic technologies into clinical practice.MethodsLongitudinal, semistructured interviews were conducted with parents of pediatric cancer patients who underwent exome sequencing (ES) as a part of the BASIC3 study. Interviews were conducted at baseline, one to eight months after results disclosure, and approximately one year after disclosure. Using thematic qualitative analysis, parent interviews were coded with both inductive and deductive approaches.ResultsBefore receiving genomic information, parents indicated that they saw ES as something responsible parents would agree to if their child had cancer. Some parents talked about the possibility of sequencing affecting feelings of culpability for their child’s cancer, worrying that they passed on a cancer-causing gene or made parenting decisions that caused the disease. However, after receiving their child’s ES results many reported feeling relieved of guilt and worry, and felt they had fulfilled parental duties by agreeing to ES for their child.ConclusionThese results reveal a layer of meaning that parents associate with GS that may inform clinicians’ approach to care. 相似文献
9.
Renée Spencer Antoinette Basualdo‐Delmonico Terrence O. Lewis 《Journal of community psychology》2011,39(1):51-59
Theoretical and empirical work on youth mentoring relationships has been largely focused on the mentor‐youth dyad, with little attention to the larger context within which such relationships form and develop. The perspectives of parents have been absent for the most part from the mentoring literature to date. In‐depth, semistructured, qualitative interviews were conducted with parents (n=13) of youth who were participating in a community‐based mentoring program. Four major themes were identified: parents' (a) hopes and expectations for the mentoring relationship, (b) trust in the mentor and satisfaction with the relationship, (c) roles in the mentoring relationship, and (d) reflections on and experiences with cultural differences between their child and the mentor. © 2010 Wiley Periodicals, Inc. 相似文献
10.
《Journal of clinical child and adolescent psychology》2013,42(3):205-210
Asked children to make comparative evaluations of their parents and specific others—namely smokers and nonsmokers. Results suggested similar findings to Riche and Thelen's (1988) study with adults. When comparing their parents to others, children were not always optimistically biased about their parents' health risks. They perceived a higher relative parental risk when comparing parents to a nonsmoker versus a smoker. In addition, parents' own smoking status influenced the children's perceptions, with nonsmoking parents receiving lower risk estimates relative to the comparison other. 相似文献
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G.M. Christenhusz K. Devriendt H. Peeters H. Van Esch K. Dierickx 《Clinical genetics》2014,86(3):207-216
Children with unexplained developmental disabilities or congenital anomalies are increasingly being referred for genetic diagnostic testing using array‐comparative genomic hybridisation (array‐CGH) and next‐generation sequencing (NGS) technologies. Their parents will have to deal with the secondary variants that will inevitably arise. We conducted 16 prospective semi‐structured interviews with native Dutch‐speaking parents whose children had undergone clinical array‐CGH testing. The interviews explored the parents' experiences, expectations and opinions, specifically regarding the communication of results. Concrete examples of ‘unexpected results’ were provided to help guide the discussion, differing in severity, treatability, time of onset, level of risk, and carrier status. Data was analysed using content and narrative analysis methodologies. Parental motivations for and against the disclosure of unexpected results cluster around four main themes: actionability; knowledge; context; and characteristics of the result. Most parents wished to know all types of results. Disclosure was framed within a holistic, contextual, family‐wide view. Genetic counselling should aim to integrate explorations of the motivations of parents surrounding the disclosure of results with good clinical care. 相似文献
13.
This study investigated parents' perceptions and demographic variables in relation to dropout rates and the perceived usefulness of parent education groups. Changes in parents' perceptions of themselves and their families following the groups were also assessed. Thirty-one parents volunteered to participate in the nine-session groups, which included both behavior modification and communication training components. Thirteen parents failed to complete the groups. Parents who dropped out of the groups initially reported they were happier within their family, happier with their child management skills, and more patient than the parents who completed the groups. Parents who finished treatment, but who felt the groups were relatively less useful, were found to have a lower income, older children, and children who had more difficulty understanding their parents. 相似文献
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Kirsten A. Riggan Sharron Close Megan A. Allyse 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(2):404-413
The most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the increasing use of genetic testing in clinical care has increased the prenatal and postnatal diagnosis of SCAs. These genetic tests are frequently ordered by nongenetic providers who are also responsible for delivering the diagnosis. We surveyed parents of children (n = 308) to evaluate their experience of receiving a diagnosis and their support needs. The majority (73.3%) received the diagnosis from a nongenetic medical provider. Following a prenatal diagnosis parents reported experiencing depression, anxiety, and less optimism than those receiving a postnatal diagnosis. Few parents reported receiving materials explaining their child's condition that they found to be up‐to‐date, accurate, and unbiased. The frequently negative reported experiences of parents at time of diagnosis suggests more educational opportunities should be provided for nongenetic providers in order to become more informed about these conditions and communicate the diagnosis in a way parents experience as supportive. 相似文献
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Marjolijn Hugenholtz Christian Br?er Rineke van Daalen 《The British journal of general practice》2009,59(560):173-179
Background
Children are more frequent users of out-of-hours primary care than other age groups, although their medical problems are less urgent.Aim
To gain insight into the health-seeking behaviour of parents who ask for immediate medical attention for their children.Design of study
Qualitative analysis of interviews and telephone calls.Setting
A general practice out-of-hours cooperative that caters for approximately 300 000 people in The Netherlands.Method
A semi-structured interview was conducted with 27 parents who had consulted their own GP or an out-of-hours facility for primary care because they wanted urgent medical attention for their child who was sick. Forty-four telephone calls from parents seeking medical care for a child were analysed.Results
Recognising symptoms in a child started with the observation of a deviation from the child''s normal appearance or behaviour. Parents decided to contact medical services when they felt they lost control of the situation. Most parents consulted because they wanted to rule out or prevent serious disease, not because of the condition itself; not wanting to take a risk with their child was an important motivation. In an attempt to rule out serious disease at home, parents also attempted diagnostic procedures they had copied from professionals.Conclusion
Worry of parents and their health-seeking behaviour can be seen as an expression of the central role of risk regulation in modern society. Doctors need to realise their own contribution to the way parents want to rule out serious disease in their children. Improving parents'' knowledge will not solve the problem of inappropriate use of out-of-hours facilities. 相似文献19.
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《Patient education and counseling》1998,33(2):169-179
In the case of childhood cancer, the personal threats are severe for both the child, the parents and other family members. For the child, there is the threat to physical integrity, safety, security, and above all, to life. For the parents, there is the threat of losing the child. However, a number of studies have shown that psychopathological disturbances are rarely found in children with cancer or their parents. We may conclude from this that most children and parents use coping strategies that protect them from developing psychopathology. In organising support for families with a child with cancer, much can be learned from children's and parents' perceptions and reactions. When problems of adjustment arise, a thorough analysis of how children and parents perceive their situation, as well as an extensive analysis of their coping efforts, is necessary to direct effective supportive actions. A psychosocial support model is proposed which can be helpful in interpreting these emotions and coping strategies. 相似文献