Selected Heritable Disorders of Connective Tissue and Disability (2022) / Chapter Skim
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Rather, their severity is determined by the severity of the physical and mental manifestations experienced by affected individuals, which may be measurable with existing clinical and function testing. The impact of HDCTs on functioning results from the combined effects of the multiple impairments with which they are associated in different body systems, which may be severe collectively even if "less severe" individually.
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, The Ehlers-Danlos Society, The Marfan Foundation, and SSA. Committee members and project staff identified additional salient literature and information using traditional academic research methods and online searches throughout the course of the study.
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For adults, the definition is "inability to engage in any SGA [substantial gainful activity] by reason of any medically determinable physical or mental impairment which can be expected to result in death or which has lasted or can be expected to last for a continuous period of not less than 12 months."4 SGA is work activity that "involves doing significant and productive physical or mental duties" or activity that "is done (or intended)
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. It considers children who are not engaged in SGA to be disabled if they have a "medically determinable physical or mental impairment or combination of impairments that causes marked and severe functional limitations, and that can be expected to cause death or that has lasted or can be expected to last for a continuous period of not less than 12 months."7 In its consideration of functioning among individuals affected by HDCTs, this report focuses on those physical; vision, hearing, and speech; and mental activities the committee determined to be most relevant to SSA.
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Although no curative treatments currently are available for MFS or EDS, these disorders can be managed. Management involves supportive care, early diagnosis of the multisystem manifestations, treatment of associated physical and mental secondary impairments, and strategies for reducing or preventing problems that may present over time.
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For this reason, HDCTs manifest in secondary impairments throughout the body that may develop and fluctuate in severity over time, and can have widespread and varied effects on physical and mental functioning. The severity of HDCTs relates to the severity of the physical and mental secondary impairments experienced by affected individuals, including the combined effects of multiple impairments, as well as the frequency, severity, and predictability of their fluctuations.
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Diagnosis Early diagnosis of HDCTs is important to reduce physical injury, reduce psychological harm to the affected individual and family members, and prevent the risks associated with inappropriate or fragmented medical care. HDCTs are diagnosed through a combination of clinical findings and established clinical criteria, followed by confirmatory molecular genetic testing when specific genes have been identified for the suspected disorder.
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For these reasons, the committee drew the following overall conclusion: 3. Early diagnosis of HDCTs is important to reduce physical injury, reduce psychological harm to the individual and family members, and prevent the risks associated with inappropriate or fragmented medical care.
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Management As noted, there are currently no curative treatments for HDCTs, but appropriate management can reduce the frequency and severity of the disorders' manifestations and resulting functional limitations. Management of the HDCTs involves supportive care, early diagnosis and treatment of associated physical and mental secondary impairments, and preventive strategies to lessen or prevent problems that may occur over time.
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, nutritionists, and others, should be able to recognize HDCTs and direct affected individuals to the appropriate care providers for management. Clinicians performing procedures or providing anesthesia and periprocedures management need to be aware of the altered procedural and postprocedural risks associated with HDCTs and to have a screening strategy for these disorders.
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The clinical course of HDCTs and their effects on functioning vary greatly among affected individuals. Longitudinal studies of individuals with different HDCTs would increase understanding of the clinical course of the disorders; associated functional limitations; and potentially the impact of interventions, including reasonable accommodations, on participation in work and school.
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12 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE • effective treatment for HDCTs and management of their physi cal and mental manifestations, including comparative treat ment 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 ac tivities (e.g., contact sports, gymnastics, dance)
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