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Pages 291-312

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From page 291...
... 6 Overall Conclusions1 This chapter presents eight overall conclusions derived by the committee from evidence provided throughout the report. The first section includes narrative summaries of evidence supporting these overall conclusions.
From page 292...
... 292 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE syndrome (LDS) and congenital contractural arachnodactyly are related hereditary aortopathies that manifest particularly in cardiovascular, cerebrovascular, respiratory, musculoskeletal, craniofacial, ocular, and neurological impairments.
From page 293...
... OVERALL CONCLUSIONS 293 as avoidance of intense isometric exercise, contact sports that can lead to blows to the head, activities that involve rapid acceleration and deceleration over short distances (sprinting) or rapid changes in pressure (e.g., scuba diving)
From page 294...
... 294 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Upon reviewing SSA's Listing of Impairments–Adult Listings, the committee found that some of the listings include severity criteria for some of the secondary impairments that may be experienced by individuals with MFS, EDS, and other HDCTs. The committee also concluded that other listings, with some modification, could apply to certain secondary impairments experienced by individuals with HDCTs.
From page 295...
... OVERALL CONCLUSIONS 295 diagnosis of HDCTs include minimal training in and knowledge about the disorders among health care providers and a corresponding shortage of providers with expertise in diagnosing and managing them. Delayed diagnosis may exacerbate manifestations of HDCTs or have life-threatening consequences.
From page 296...
... 296 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE • Delayed or misdiagnosis of individuals with HDCTs can result in – inappropriate medical interventions; – inability to accurately assess the risks and benefits associated with medical procedures; – inability to access necessary reasonable accommodations at work or school; – family stress and dysfunction; – stress associated with unexplained and repeated evidence of trauma, leading to inappropriate suspicion of child abuse; – inappropriate assessments and incorrect diagnoses; and – mistrust of health care providers and negative expectations for future health care encounters. • Timely diagnosis and recognition of the many physical and mental secondary impairments with which HDCTs can present and action to address them, even if in the absence of a specific molecular di agnosis, can dramatically improve individuals' quality of life and functional status, including the ability to participate in work and school.
From page 297...
... OVERALL CONCLUSIONS 297 Barriers to Access to Care Individuals with HDCTs often experience difficulty obtaining appropriate and integrated multidisciplinary care to address the wide range of associated impairments. Barriers to appropriate care include insufficient training in and knowledge about the disorders among health care providers, which contributes to a shortage of clinicians with expertise in their diagnosis and management.
From page 298...
... 298 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE 6. Education about HDCTs, including their multisystem manifestations, diagnosis, and management, is important for all clinicians to help in crease recognition and earlier diagnosis of the disorders and enable the provision of appropriate care.
From page 299...
... OVERALL CONCLUSIONS 299 interventions, including reasonable accommodations, on participation in work and school. While the severity of HDCTs is linked to the severity of the affected individual's physical and mental secondary impairments, including the combined effects of multiple impairments, improved understanding and measurement of the effects of impairments and multiple impairments on functioning could advance management of the disorders and improve functional status and quality of life for patients.
From page 300...
... 300 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Overall Conclusions and Selected Chapter Specific Findings and Conclusions 1. Heritable disorders of connective tissue (HDCTs)
From page 301...
... OVERALL CONCLUSIONS 301 that are clinically similar to hypermobile EDS (hEDS) with respect to their manifestations and management.
From page 302...
... 302 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Continued 3-7. Hereditary aortopathies can affect individuals' everyday physical and men tal functioning, often impacting multiple body systems.
From page 303...
... OVERALL CONCLUSIONS 303 5-7. Fatigue associated with EDS and MFS can result in a number of physical and mental functional impairments that affect daily activities, including participation in work and physical activities.
From page 304...
... 304 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Continued 5-1. The number, type, and severity of the physical and mental secondary im pairments experienced by an individual with an HDCT drive the person's functioning and potential disability.
From page 305...
... OVERALL CONCLUSIONS 305 Findings 2-9. The clinical course of HDCTs is highly variable and can be impacted not only by the disease-specific manifestations of each unique syndrome, but also by individuals' physical and mental secondary impairments, as well as environmental factors and physical and psychological demands.
From page 306...
... 306 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Continued 3-2. Management of MFS and related hereditary aortopathies requires a mul tidisciplinary approach and involves early diagnosis of the multisystem findings associated with these syndromes, treatment of associated physical and mental secondary impairments, and measures to reduce or prevent problems that may present with aging.
From page 307...
... OVERALL CONCLUSIONS 307 4-12. Delayed diagnosis may result in a lack of or inappropriate management that may exacerbate physical and mental manifestations of EDS/HSD.
From page 308...
... 308 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Continued 6. Education about HDCTs, including their multisystem manifestations, diagnosis, and management, is important for all clinicians to help in crease recognition and earlier diagnosis of the disorders and enable the provision of appropriate care.
From page 309...
... OVERALL CONCLUSIONS 309 4-3. Management EDS/HDS requires a multidisciplinary approach and involves early diagnosis of the multisystem findings, treatment of associated physi cal and mental secondary impairments, and measures to reduce or prevent problems that may present over time.
From page 310...
... 310 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE BOX 6-1 Continued • more specific diagnostic criteria and biomarkers; • functional and biomeasures of severity; • effective treatment for HDCTs and management of their physical and mental manifestations, including comparative treatment trials; • the clinical course of the disorders throughout the lifetime of affected individuals; • the impact of relevant reasonable accommodations on affected individuals' ability to participate in work and school; and • benefits versus risks of participation in common childhood activities (e.g., contact sports, gymnastics, dance)
From page 311...
... OVERALL CONCLUSIONS 311 4-7. Diagnosis of hEDS and HSD is based solely on clinical criteria, since nei ther has a known genetic test.

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