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• W2119025121 abstract "Issues and Management of Joint Hypermobility is a welcome addition to a diminutive set of resources currently available to those who care for children and adults with hypermobility type Ehlers-Danlos syndrome (EDS type III). This 133 page book offers “talking points” for affected adults, parents of children with EDS III, genetic counselors and therapists in their efforts to design and carry out an individualized treatment plan. Within its pages, the author provides a summary of medical research and gives expert opinion, and he reviews symptoms and potential medical problems. The author teaches while he guides the reader through avenues for optimizing good health. A description of the clinical criteria used for making the diagnosis of EDS III, the hypermobile type is presented. In addition to using the typical Beighton scale for measuring joint flexibility, the author, Dr. Brad Tinkle, recommends the use of the Brighton criteria for accurately identifying the hypermobility syndrome. The Brighton criteria take into account the decrease in joint laxity that naturally occurs with age and they factor in joint subluxations and pain, symptoms often seen with EDS type III. A brief description of all forms of EDS follows, with a short note about autosomal dominant inheritance (with reduced penetrance), believed to be the pattern of inheritance in hypermobility type. The impact of the diagnosis of Hypermobility syndrome on health and well being is featured throughout. The 37 short chapters that follow are loosely organized by similar topic areas. The initial chapters discuss pain, pain treatment and therapies, followed by chapters addressing specific orthopedic problems (knee, hip, spine, and surgery) and the concluding chapters address body systems (heart, gastrointestinal, vision, dental) and overall mental health. In each instance, the published literature is quoted, recommendations offered where appropriate and helpful links or references supplied. The author stops short of making recommendations for pregnancy management but points out that the risk of pregnancy complications is low in Hypermobility syndrome. He notes that a fair bit of the published EDS pregnancy data are derived from surveys and studies of women with all forms of EDS, so that the specific expectations for EDS hypermobile type pregnancies are difficult to quantify. The author makes eight medical care “recommendations” for Hypermobility EDS. In future editions, summarizing these recommendations in a single table for easy access by clinicians would be helpful. For now, one will have to use sticky tabs to find them as they are dispersed throughout the book. Several reported “associations” are addressed. These include Chiari malformation, restless leg syndrome, fibromyalgia, and chronic fatigue. Dr Tinkle reviews published case reports and small collections of patients. The cited publications often include data from groups of patients with all forms of EDS rather than only those with EDS III. Such data are inadequate when trying to assess the likelihood that a particular medical problem will occur in EDS III. In addition, because the underlying etiology remains elusive, the possibility remains that EDS type III is a heterogenous disorder, and that some patients have a risk for associated problems and others do not. This gap in knowledge highlights the need for research on objectively ascertained populations with distinct molecular forms of EDS. For new parents of children identified with EDS III, the list of possible complications reviewed in this book may be alarming. This is particularly true for parents of the child that presents with joint hypermobility alone. Readers are not left with a sense of how often a medical complication or a troublesome outcome might occur in their child or in themselves. At the same time, the book will assist the adult patient in identifying problems early and describing those problems that do arise. The geneticist and genetic counselor have been given herein a tool to be shared with families and other health care professionals that can surely be used as a starting place for crafting future medical care. Its use will save time and money and ultimately reduce the anxiety suffered searching for explanations and assistance with health issues. The author, Dr. Brad Tinkle, a medical geneticist with the experience of diagnosing and treating many children and adults with a variety of the forms of Ehlers Danlos Syndrome (EDS) is an EDS clinical expert. He is professionally positioned to provide this thoughtful contribution to the field, as he is a member of the professional advisory council for the Ehlers Danlos National Foundation and a genetics research professor. By working as a genetic counselor in a pediatric Medical Genetics clinic where children with EDS are initially diagnosed and by presently working in a research and clinical laboratory that offers testing for some forms of EDS, I recognize this text as invaluable and am grateful for its arrival. Presenting this resource to the parent of a newly diagnosed EDS child or to a referring pediatrician or general practitioner is a sound way to begin building a foundation for care for a child with EDS III. “Empowerment” (for families and caregivers) may be an outdated word for the gift that Dr. Tinkle gives by offering this book, but it is an appropriate one." @default.
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• W2119025121 date "2009-03-07" @default.
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• W2119025121 title "Issues and Management of Joint Hypermobility: A Guide for the Ehlers‐Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome" @default.
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