Preventive medicine for genetic disorders

Wilson, Golder N.

doi:10.1002/(sici)1096-8628(19990625)89:2<55::aid-ajmg1>3.0.co;2-z

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…In addition, several of these conditions are genetically inherited and require specialized clinical genetic services involving appropriate screenings, specific preventive measures, anticipatory guidance, and surveillance for treatable complications as well as relationship building with individuals and their families (Wilson, 1999). Although the need for health maintenance and supervision for genetic services has long been recognized (Wilson, 1999), there is a dearth of clinical guidelines for the long‐term management of neuromuscular diseases. Among hereditary neuromuscular diseases, one of the most prevalent adult‐onset neuromuscular disorders is myotonic dystrophy type 1 (DM1; Emery, 1991).…”

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confidence: 99%

The Potential of Disease Management for Neuromuscular Hereditary Disorders

Chouinard

Gagnon²,

Laberge³

et al. 2009

Rehabilitation Nursing

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Neuromuscular hereditary disorders require long-term multidisciplinary rehabilitation management. Although the need for coordinated healthcare management has long been recognized, most neuromuscular disorders are still lacking clinical guidelines about their long-term management and structured evaluation plan with associated services. One of the most prevalent adult-onset neuromuscular disorders, myotonic dystrophy type 1, generally presents several comorbidities and a variable clinical picture, making management a constant challenge. This article presents a healthcare follow-up plan and proposes a nursing case management within a disease management program as an innovative and promising approach. This disease management program and model consists of eight components including population identification processes, evidence-based practice guidelines, collaborative practice, patient self-management education, and process outcomes evaluation (Disease Management Association of America, 2004). It is believed to have the potential to significantly improve healthcare management for neuromuscular hereditary disorders and will prove useful to nurses delivering and organizing services for this population.

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mentioning

confidence: 99%

The Potential of Disease Management for Neuromuscular Hereditary Disorders

Chouinard

Gagnon²,

Laberge³

et al. 2009

Rehabilitation Nursing

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“…111 Another example is Down syndrome, where adoption of the health checklist for children with Down syndrome by the American Academy of Pediatrics in 1994 has led to far better outcomes for children with this syndrome. 103,112 With the recognition of a substantial risk for Alzheimer's disease and heart and eye disease in older individuals with Down syndrome, these concerns can now be addressed in a timely manner. 87,108 Similar approaches are being developed for a large number of other genetic causes of ID.…”

Section: Etiologies Of Intellectual Disabilitiesmentioning

confidence: 99%

Addressing Health Disparities Through Promoting Equity for Individuals with Intellectual Disability

Ouellette‐Kuntz

Garcin

et al. 2005

Can J Public Health

130

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Aim: To explore discrepancies between policy and practice in relation to reducing health disparities among individuals with intellectual disabilities (ID). Method: Comparative literature review and analysis. Results: Rhetoric and reality are at odds in most countries with regard to healthcare policy development and the ability of service systems to deliver the promised results. Whatever the policy approach, establishing and measuring the achievement of key health targets will be the critical test of success for proposed service delivery strategies. Conclusions: While in developed countries there is an emerging policy consensus on the need to address health disparities among persons with ID, there are few examples of successful service models that achieve the desired results. Aim: To bring together an interdisciplinary group of researchers, clinicians and family members to identify and target healthcare disparities faced by individuals with ID in Canada. Method: Literature review and analysis of Canadian policy on health and social services to individuals with ID. Results: Canadian research is sparse and tends to be focused at the local level. Anecdotal reports suggest that local findings and results from other jurisdictions apply to the experiences of individuals with ID living across Canada. Conclusions: An integrated research approach is urgently needed to understand and resolve disparities in health and healthcare faced by individuals with ID in Canada. Such an approach must distinguish between factors leading to inequality and those leading to inequity. From policy to practice: A US model for promoting the public health and intellectual disability (ID) agenda E. Long Aim:The Centers for Disease Control and Prevention in the USA have the mandate to establish a public health agenda designed to reduce health disparities among persons with ID. This paper will analyze the possibilities and implications of a strategic model for involving a wide range of university-based researchers and clinicians in ID in the creation and diffusion of research findings and best practice interventions. Method: Analysis of rationale for this public health model and discussion of implementation strategy. Results: This US policy shift is in its infancy but the available resources are already having a key leveraging effect on the involvement of university-based programs committed to this agenda. Conclusions: Making the issue of health disparities a major public agenda has critical implications for the strategies used to address this problem compared with other approaches that tend to focus on the effectiveness of various health care delivery models.Bringing national policy to the local level: Building a community consensus on health disparities and how to address them D. Bier Aim: Recent focus on health disparities in the US was triggered by a grass-roots, family and consumer-led initiative, which was taken up at national level and made a focus of government policy. National policy included recommendations on changes needed if it was to...

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