The chapter also reviews selected listings from the U.S. This chapter first describes the relationship between secondary impairments associated with HDCTs and functioning, and then provides an overview of the potential effects on global (full-body) physical vision, hearing, and speech and mental functioning. Similarly, physical conditions such as pain and fatigue can adversely affect cognitive functioning ( Higgins et al., 2018 Moriarty et al., 2011 Vadivelu et al., 2017). Chronic pain, for example, is reported to have a bidirectional relationship with depression ( Vadivelu et al., 2017), and an association between gastrointestinal and psychological disorders has also been reported ( Stasi et al., 2017). Moreover, these areas of functioning interact such that impairments in one area (e.g., physical) may precipitate or exacerbate impairments in one or more of the others (cognitive, psychosocial, and/or emotional). The impairments associated with HDCTs affect mental (e.g., cognitive, psychosocial, emotional) functioning as well as physical functioning. Some effects of HDCTs, and in some cases their treatment, manifest as impairments in body structures and physical and psychological functions, with resulting activity limitations and restrictions on participation. Personal and environmental factors act on the ICF domains to either enhance or diminish an individual’s activity and participation. “Impairments” are deficits in body function and structure “limitations” refer to deficits in completing activities and “restrictions” refer to reductions in participation ( WHO, 2001). The severity of the disease process varies among individuals and relates to the type, number, and severity of the secondary impairments, as well as the combined effects of multiple “less severe” impairments.Īs described in Chapter 1, the International Classification of Functioning, Disability and Health (ICF) model of disability identifies three domains of functioning: (1) body function and structure (i.e., physiological functions of the body, including psychological functions, and functioning of body structures) (2) activities (i.e., actions or tasks) and (3) participation (i.e., performance of tasks in a societal context, such as school or work ( WHO, 2001). Heritable Disorders of Connective Tissue and Effects on FunctionĪs discussed in previous chapters, heritable disorders of connective tissue (HDCTs) manifest as physical and mental secondary impairments, potentially in many different body systems.
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