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1.
Healthc Manage Forum ; : 840470419867427, 2019 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-31446791

RESUMO

When evidence thresholds are met, adopting healthcare innovations should add value, and this is forgone when evidence is not translated into practice. Activities that are not supported by evidence lead to ineffective or unnecessary care, or harm, poor outcomes, and low-value healthcare. This article provides an overview of implementation science, which is the scientific study of why implementation succeeds or fails. We draw parallels between the LEADS in a Caring Environment leadership framework and implementation science process models and frameworks. Taken together, the principles and practices in LEADS and the aims of implementation science are effectively quite similar and can be useful for healthcare management looking to optimize resources when implementing evidence-based practice and innovation into routine clinical care.

3.
Genet Med ; 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31160753

RESUMO

Genomic sequencing and multigene panel tests are moving rapidly into clinical practice for a range of indications, but the evidence to guide appropriate use is currently limited. Well-crafted advice is needed to reduce unjustified practice variation, minimize risk of error and harm to patients, and encourage best practices. In the absence of definitive evidence, provisional advice can be helpful if it clarifies the potential benefits and risks of different courses of action and identifies the knowledge gaps most important to address in future research. This paper proposes an evolutionary process starting with clinical practice advisory documents (CPADs) and culminating in clinical practice guidelines (CPGs), using two case examples to illustrate the need for this process. When evidence is limited, CPADs can clarify current practice options and identify key knowledge gaps. Added evidence can then support updates to the CPADs over time. Ultimately CPADs can provide the foundation for definitive CPGs as the evidence base matures. This approach addresses an important challenge in genomics and may be applicable to other fields in which technology and practice are outpacing evidence generation.

4.
Lancet Child Adolesc Health ; 3(6): 398-407, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30952624

RESUMO

BACKGROUND: Disease severity in paediatric obesity is usually defined using the body-mass index (BMI). Although informative at the population level, its usefulness on an individual level has limitations. The use of a clinical staging system-Edmonton Obesity Staging System for Pediatrics (EOSS-P)-in identifying health risk has been proposed. This study aimed to examine the association between BMI class and EOSS-P stage. METHODS: This cross-sectional study was done in children with obesity aged 5-17 years who enrolled in the Canadian Pediatric Weight Management Registry (CANPWR) between May 31, 2013, and Oct 27, 2017, involving ten multidisciplinary paediatric weight management clinics in Canada. We classified participants into WHO BMI classes (class I as 2-3 SD scores, class II as >3 SD scores, and class III as >4 SD scores above the WHO growth standard median), and applied the EOSS-P staging system (stages 0, 1, and 2/3) based on the clinical assessment of coexisting metabolic, mechanical, mental health, and social milieu issues. Clinical information was extracted from medical records and reported using standardised case report forms. Associations of BMI class with EOSS-P stage were examined in children with complete data. FINDINGS: Of the 847 children with complete data, 546 (64%) had severe obesity based on BMI class (ie, class II or III) and 678 (80%) were EOSS-P stage 2/3. Stage 2/3 obesity-related health issues were common; mental health concerns were most common (520 [61%] of 847 children), followed by metabolic (349 [41%] of 847 children), social milieu (179 [21%] of 847 children), and mechanical (86 [10%] of 847 children) health issues. Mental health issues (eg, anxiety and attention-deficit hyperactivity disorder) were equally distributed across BMI classes, metabolic health issues were slightly more common in higher BMI classes, and mechanical (eg, musculoskeletal issues and sleep apnoea) and social milieu (eg, bullying and low household income) issues increased with increasing BMI class. Of children with class I obesity, 206 (76%) of 270 had overall EOSS-P stage 2/3, compared with 195 (85%) of 229 with class III obesity. INTERPRETATION: Physical and mental health issues were highly prevalent among children with obesity irrespective of BMI class. Participants with class III obesity carried the greatest health risk across subcategories of the EOSS-P. As BMI class increased, a concomitant increased disease burden in mechanical and social milieu issues was observed, whereas metabolic and mental health risks were high across BMI classes. FUNDING: Canadian Institutes of Health Research, Ontario Ministry of Health, McMaster University, and McMaster Children's Hospital.

5.
Orphanet J Rare Dis ; 14(1): 70, 2019 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-30902101

RESUMO

BACKGROUND: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. METHODS: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. RESULTS: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined. CONCLUSIONS: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.

6.
J Obstet Gynaecol Can ; 41(6): 782-791, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30738740

RESUMO

OBJECTIVE: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT). METHODS: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study. RESULTS: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals. CONCLUSION: Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.

7.
BMC Pregnancy Childbirth ; 19(1): 22, 2019 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-30630440

RESUMO

BACKGROUND: Canadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT being publicly covered for high-risk pregnancies in some provinces, but not others. Such a diverse and evolving policy landscape provides fertile ground for examining the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system, as well as the factors influencing their preferences, which is what the present study does. METHODS: In this paper, we report the results of three-large scale Canadian surveys, in which 882 pregnant women, 395 partners of pregnant women, and 184 healthcare professionals participated. RESULTS: The paper focuses on preferences regarding how and when NIPT should be used, as well as the factors influencing these preferences, and how coverage for NIPT should be provided. These are correlated with respondents' levels of knowledge about Down syndrome and testing technologies and with their stated intended use of NIPT results. CONCLUSION: Salient is the marked difference between the preferences of prospective parents and those of healthcare professionals, which has potential implications for Canadian policy regarding NIPT implementation and insurance coverage.


Assuntos
Atitude do Pessoal de Saúde , Ácidos Nucleicos Livres/sangue , Síndrome de Down/diagnóstico , Preferência do Paciente , Gestantes , Diagnóstico Pré-Natal , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adulto , Canadá , Síndrome de Down/sangue , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Política de Saúde , Humanos , Cobertura do Seguro , Masculino , Pessoa de Meia-Idade , Gravidez , Gravidez de Alto Risco , Sensibilidade e Especificidade , Cônjuges , Inquéritos e Questionários , Síndrome da Trissomia do Cromossomo 13/sangue , Síndrome da Trissomía do Cromossomo 18/sangue
8.
Am J Med Genet A ; 179(3): 386-396, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30652412

RESUMO

The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era of next-generation gene sequencing and growing number of causative variants, the spectrum of ryanodinopathies has been evolving with dominant and recessive variants presenting with RYR1-related congenital myopathies such as central core disease, minicore myopathy with external ophthalmoplegia, core-rod myopathy, and congenital neuromuscular disease. Lately, the spectrum was broadened to include fetal manifestations, causing a rare recessive and lethal form of fetal akinesia deformation sequence syndrome (FADS)/arthrogryposis multiplex congenita (AMC) and lethal multiple pterygium syndrome. Here we broaden the spectrum of clinical manifestations associated with homozygous/compound heterozygous RYR1 gene variants to include a wide range of manifestations from FADS through neonatal hypotonia to a 35-year-old male with AMC and PhD degree. We report five unrelated families in which three presented with FADS. One of these families was consanguineous and had three affected fetuses with FADS, one patient with neonatal hypotonia who is alive, and one individual with AMC who is 35 years old with normal intellectual development and uses a wheelchair. Muscle biopsies on these cases demonstrated a variety of histopathological abnormalities, which did not assist with the diagnostic process. Neither the affected living individuals nor the parents who are obligate heterozygotes had history of malignant hyperthermia.

9.
Artigo em Inglês | MEDLINE | ID: mdl-30361155

RESUMO

The use of pre-implantation genetic diagnosis (PGD) is increasing as the list of indications it can test for constantly expands. This raises new challenges for clinicians and prospective parents regarding possible uses and calls for guidance. Policy approaches towards PGD vary greatly worldwide. The 2004 Canadian Assisted Human Reproduction Act does not provide guidance, except for prohibiting non-medical sex selection. Criminal legislation is an unsuitable policy instrument to regulate human genetics and reproductive medicine. We call for professional societies to issue guidelines regarding the uses of PGD that would establish the standard of care and legal norms. Such guidelines should be based on a patient-centered approach and respect individual autonomy in reproductive decision-making. Canadian approaches to PGD should also consider issues related to equity of access. Moreover, since PGD often raises concerns about eugenic uses, guidelines should also consider its societal impact and its implementation should be accompanied by policies that maintain or increase social support for people with disabilities. Finally, public engagement could provide an evidence-base regarding Canadian societal values and concerns that should guide regulatory reform, for example, the regulation of non-medical sex selection through PGD.

10.
J Autism Dev Disord ; 2018 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-30284667

RESUMO

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.

11.
Eur J Obstet Gynecol Reprod Biol ; 230: 68-72, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30243228

RESUMO

OBJECTIVE: To assess obstetric and aortic outcomes in women with Marfan Syndrome according to aortic root diameter, in view of recommendations for caesarean delivery when the aortic root diameter is ≥40 mm in the 2010 American guidelines versus >45 mm in the 2011 European guidelines. STUDY DESIGN: In this retrospective cohort study conducted at Sainte-Justine Mother and Child Tertiary Hospital, 27 pregnancies in 20 women with Marfan Syndrome as defined by the international criteria, were followed prospectively between 1994 and 2017, after excluding women with prior aortic surgery. Obstetric and aortic outcomes were compared in 2 groups according to aortic root diameter: < 40 mm (21 pregnancies) and 40-45 mm (6 pregnancies). RESULTS: 21/27 women had a vaginal delivery. The caesarean section rate was 23.8% and 16.7% in women with diameter <40 mm and 40-45 mm respectively (p-value = 1), and perinatal outcome was similar across groups. Two women with a prepregnancy aortic root diameter <40 mm developed an acute type B dissection during the third trimester. Both had a family history of aortic dissection. CONCLUSIONS: Vaginal delivery with rigorous pain control and avoidance of Valsalva maneuver may be safely considered in women with Marfan Syndrome and an aortic root diameter ≤45 mm. The risk of type B aortic dissection during pregnancy is hard to predict. Other factors such as family history of dissection and descending aorta size may play an important role, and this may modify our counselling.

12.
BMC Pediatr ; 18(1): 237, 2018 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-30025530

RESUMO

BACKGROUND: There is increasing recognition of the value of "real-world evidence" in evaluating health care services. Registry-based, observational studies conducted in clinical settings represent a relevant model to achieve this directive. Starting in 2010, we undertook a longitudinal, observational study (the CANadian Pediatric Weight management Registry [CANPWR]), which is embedded in 10 multidisciplinary, pediatric weight management clinics across Canada. The objective of this paper was to share the lessons our team learned from this multi-centre project. METHODS: Data sources included a retrospective review of minutes from 120 teleconferences with research staff and investigators, notes taken during clinical site visits made by project leaders, information from quality control processes to ensure data accuracy and completeness, and a study-specific survey that was sent to all sites to solicit feedback from research team members (n = 9). Through an iterative process, the writing group identified key themes that surfaced during review of these information sources and final lessons learned were developed. RESULTS: Several key lessons emerged from our research, including the (1) value of pilot studies and central research coordination, (2) need for effective and regular communication, (3) importance of consensus on determining outcome measures, (4) challenge of embedding research within clinical practice, and (5) difficulty in recruiting and retaining participants. The sites were, in spite of these challenges, enthusiastic about the benefits of participating in multi-centre collaborative studies. CONCLUSION: Despite some challenges, multi-centre observational studies embedded in pediatric weight management clinics are feasible and can contribute important, practical insights into the effectiveness of health services for managing pediatric obesity in real-world settings.

13.
Brain ; 2018 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-29985992

RESUMO

The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. Using massively parallel sequencing we identified 13 patients bearing heterozygous germline alterations in BCL11B. Notably, all of them are affected by global developmental delay with speech impairment and intellectual disability; however, none displayed overt clinical signs of immune deficiency. Six frameshift mutations, two nonsense mutations, one missense mutation, and two chromosomal rearrangements resulting in diminished BCL11B expression, arose de novo. A further frameshift mutation was transmitted from a similarly affected mother. Interestingly, the most severely affected patient harbours a missense mutation within a zinc-finger domain of BCL11B, probably affecting the DNA-binding structural interface, similar to the recently published patient. Furthermore, the most C-terminally located premature termination codon mutation fails to rescue the progenitor cell proliferation defect in hippocampal slice cultures from Bcl11b-deficient mice. Concerning the role of BCL11B in the immune system, extensive immune phenotyping of our patients revealed alterations in the T cell compartment and lack of peripheral type 2 innate lymphoid cells (ILC2s), consistent with the findings described in Bcl11b-deficient mice. Unsupervised analysis of 102 T lymphocyte subpopulations showed that the patients clearly cluster apart from healthy children, further supporting the common aetiology of the disorder. Taken together, we show here that mutations leading either to BCL11B haploinsufficiency or to a truncated BCL11B protein clinically cause a non-syndromic neurodevelopmental delay. In addition, we suggest that missense mutations affecting specific sites within zinc-finger domains might result in distinct and more severe clinical outcomes.

14.
Genet Med ; 2018 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-29875419

RESUMO

PURPOSE: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework. METHODS: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood. RESULTS: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4). The age at initiation of intervention was based on the youngest age of onset reported, not evidence of the benefit of early intervention. For 15 disorders, guidelines were supported by a moderate quality of evidence for at least one recommendation. Only tuberous sclerosis complex had recommendations based on high-quality evidence. All others were based on evidence of low or very low quality. CONCLUSION: We propose that actionability in childhood should be based on the proportion of cases that manifest in childhood and the quality of the evidence supporting intervention recommendations. Ideally, disclosure in childhood would be limited to disorders for which a majority of cases present in childhood and for which interventions are supported by evidence of at least moderate quality (i.e., multiple endocrine neoplasia type 2, retinoblastoma, tuberous sclerosis complex, Marfan syndrome, and Wilson's disease).

15.
AJOB Empir Bioeth ; 9(2): 99-111, 2018 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29847254

RESUMO

Noninvasive prenatal testing (NIPT), based on the detection of cell-free fetal DNA in maternal blood, has transformed the landscape of prenatal care by offering clinical benefits (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions. In a Western context, the main ethical argument for providing access and public funding of prenatal tests is the promotion of reproductive autonomy (also referred to as "procreative liberty" and "reproductive freedom"), by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management (continuation of pregnancy and preparation for birth or termination). So how is the framework of reproductive autonomy operationalized in non-Western cultural contexts? We used Quebec, Canada, and Beirut, Lebanon, for case studies to explore what ethical considerations related to reproductive autonomy should guide the implementation of the test in various cultural contexts. To answer this question, we conducted a qualitative study to (1) explore the perceptions, values, and preferences of pregnant women and their partners about NIPT and (2) examine how these values and perceptions influence reproductive autonomy and decision making in relation to NIPT in these two different cultural settings, Lebanon and Quebec. Our findings may guide health care professionals in providing counseling and in helping women and their partners make better informed prenatal testing decisions. Further, at a policy level, such understanding might inform the development of local guidelines and policies that are appropriate to each context.

17.
Acta Paediatr ; 107(5): 838-844, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29280190

RESUMO

AIM: To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology. RESULTS: Ninety-seven % (73/76) of surveys were completed. Paediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious. The majority expected testing to have positive impacts on children/families. The themes raised were (i) clarifying the diagnosis (56%), (ii) understanding the aetiology of the condition (55%), (iii) enabling prenatal diagnosis/counselling (43%), (iv) improving medical care for the child (15%) and (v) decreasing parental guilt/anxiety (8%). Less than half anticipated negative impacts; 74% expected that the most helpful result for their patient would be an abnormal result explaining the disorder. Among the 73 children for whom CMA was ordered, 81% got tested: 66% of the results were normal, 19% were abnormal and contributed to explain the condition and 12% were abnormal but of unknown significance. CONCLUSION: Paediatricians generally expect many positive and less negative impacts of genetic testing for children with developmental disorders. Parental perspectives are needed.

18.
Prenat Diagn ; 38(1): 67-74, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28419508

RESUMO

A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoix-Saguenay, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: The objective of this study was to describe the experience of carrier couples identified through this program. METHODS: Semi-structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was performed to identify emerging themes. RESULTS: Interviews were performed with 15 carrier couples (56% response rate). Carrier couples had little knowledge about the target diseases before being identified as carriers, despite pre-test education sessions. The main motivation for screening was a recommendation by a peer who had been screened, even for those with a positive family history of one of the target conditions. Couples perceived themselves at low risk of being a carrier couple, whatever their family history. Being found to be a carrier couple was initially a shock, illustrating how ill prepared they were for such a result, but carrier couples appreciated knowing their status. CONCLUSION: Our results emphasize the informational needs of couples to make informed decisions and the importance of post-test counseling for those with positive results. Our findings can inform counseling procedures in expanded carrier screening. © 2017 John Wiley & Sons, Ltd.


Assuntos
Agenesia do Corpo Caloso/diagnóstico , Deficiência de Citocromo-c Oxidase/diagnóstico , Triagem de Portadores Genéticos , Doença de Leigh/diagnóstico , Espasticidade Muscular/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Ataxias Espinocerebelares/congênito , Tirosinemias/diagnóstico , Adulto , Feminino , Efeito Fundador , Heterozigoto , Humanos , Masculino , Projetos Piloto , Ataxias Espinocerebelares/diagnóstico , Adulto Jovem
20.
Orphanet J Rare Dis ; 11(1): 168, 2016 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-27927250

RESUMO

BACKGROUND: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. METHODS: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data. RESULTS: We completed interviews with 21 parents/caregivers. The 21 children were aged <1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or 'other' IMD. Most parents reported that they and their families had adapted well to their child's diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child's disease. CONCLUSIONS: The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents' social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD.


Assuntos
Cuidadores , Erros Inatos do Metabolismo , Adaptação Psicológica , Criança , Saúde da Família , Serviços de Assistência Domiciliar , Humanos , Estresse Psicológico
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