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From page 125...
... 5 Heritable Disorders of Connective Tissue and Effects on Function As discussed in previous chapters, heritable disorders of connective tissue (HDCTs) manifest as physical and mental secondary impairments, potentially in many different body systems.
From page 126...
... 126 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE 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)
From page 127...
... EFFECTS ON FUNCTION 127 committee determined to be of particular interest to SSA,1 the potential reasons for limitations in those activities for individuals with HDCTs, selected measures for assessing function in the relevant areas, and selected assistive technologies and reasonable accommodations that could help mitigate the effects of the impairment(s) on an individual's ability to work, participate in school, and the like.
From page 128...
... 128 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE existing SSA listings. For example, some individuals with HDCTs applying for SSA disability benefits might qualify at the listing level step in the determination process on the basis of the secondary impairment(s)
From page 129...
... EFFECTS ON FUNCTION 129 odors, light, and foods can trigger or exacerbate manifestations in individuals with EDS/HSD (Syx et al., 2017)
From page 130...
... 130 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE et al., 2017; Nelson et al., 2015a; Peters et al., 2001; Ratiu et al., 2018; Rombaut et al., 2011; Speed et al., 2017; Voermans et al., 2010a)
From page 131...
... EFFECTS ON FUNCTION 131 the spinal cord, it causes sensitization of the dorsal horn cells; as a result, the central nervous system (CNS) switches from suppressing signals to enhancing its response to stimuli.
From page 132...
... 132 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE such as those associated with certain gastrointestinal disorders and MCAD (Chopra, 2020)
From page 133...
... EFFECTS ON FUNCTION 133 workup should distinguish between hEDS/HSD and ME/CFS (Hakim et al., 2017a)
From page 134...
... 134 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE sleep-disordered breathing (sleep apnea) (Hakim et al., 2017a; Ritelli et al., 2020)
From page 135...
... EFFECTS ON FUNCTION 135 Selected Assessment Measures Assessment of chronic fatigue is based on self-reports, and a number of self-report instruments are available to provide a consistent measure of the impact and severity of fatigue. These instruments include the Brief Fatigue Inventory, the Fatigue Impact Scale, the Fatigue Severity Scale, the Fatigue Symptom Inventory, the Multidimensional Assessment of Fatigue scale, and the Multidimensional Fatigue Symptom Inventory.
From page 136...
... 136 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Orthostatic Intolerance2 Orthostatic intolerance refers to a condition in which individuals develop symptoms upon assuming and maintaining upright posture, with symptoms improving (although not necessarily resolving completely) after they return to a recumbent position (Low et al., 2009)
From page 137...
... EFFECTS ON FUNCTION 137 Potential Reasons Orthostatic intolerance results primarily from two physiological changes in response to upright posture: (1) a reduction in cerebral blood flow, and (2)
From page 138...
... 138 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Most individuals with more than a minor degree of functional impairment from orthostatic intolerance will need medication. Pharmacologic treatments, such as low-dose beta blockers, fludrocortisone, or midodrine, may ameliorate some of the effects of the condition.
From page 139...
... EFFECTS ON FUNCTION 139 sensitivity to smells, temperatures, sounds, and lights can affect socialization, child care, bathing, and participation in such activities as grocery shopping and doctor's appointments (Rich et al., 2020)
From page 140...
... 140 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE hEDS/HSD. They found that 46 percent of the 974 patients had MCAD but no codes for immunoglobulin deficiency or hEDS/HSD, 10 percent had a diagnosis of both MCAD and hEDS/HSD, and 19 percent had a diagnosis of all three disorders.
From page 141...
... EFFECTS ON FUNCTION 141 Glucocorticoid therapy is not recommended for patients with both EDS/ HSD and MCAD (Seneviratne et al., 2017)
From page 142...
... 142 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE The technique for determining functional equivalence is a "whole child" approach that "accounts for all of the effects of a child's impairments singly and in combination -- the interactive and cumulative effects of the impairments -- because it starts with a consideration of actual functioning in all settings" (SSA, 2009)
From page 143...
... EFFECTS ON FUNCTION 143 al., 2008) and exercise testing that includes assessment of aerobic capacity and neuromuscular performance (Liguori and American College of Sports Medicine, 2021)
From page 144...
... 144 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE mobility, resilience and sociability, self-regulation, communication and cognition, and mood and emotions (Marfeo et al., 2019)
From page 146...
... 146 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE job demands provided in the ORS [Occupational Requirements Survey] Collection Manual (BLS, 2020)
From page 147...
... EFFECTS ON FUNCTION 147 contact and intensity (Marfan Foundation, 2017, p.
From page 148...
... 148 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE do work while on the ground. These are difficult tasks that are equivalent to the other low work activities.
From page 149...
... EFFECTS ON FUNCTION 149 VISION, HEARING, AND SPEECH FUNCTIONING To a greater or lesser extent, vision, hearing, and speech functions may be affected in people with HDCTs (see Annex Tables 5-11 and 5-15)
From page 150...
... 150 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE maps of an individual's visual field. Functional Assessment for Adults with Disabilities includes a more detailed discussion of visual functioning and assessment (NASEM, 2019, pp.
From page 151...
... EFFECTS ON FUNCTION 151 Noble, 2004)
From page 152...
... 152 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE the cricoarytenoid joint" (Chohan et al., 2021, citing Arulanandam et al., 2017; Castori et al., 2010; Hunter et al., 1998)
From page 153...
... EFFECTS ON FUNCTION 153 of satisfaction with quality of life (Ratiu et al., 2018)
From page 154...
... 154 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE and depression, which may coexist, can significantly interfere with daily activities, including participation in school and work; personal and social activities; and relationships with family, friends, teachers, coworkers, and others (Mayo Clinic 2022b; WHO, 2022)
From page 155...
... EFFECTS ON FUNCTION 155 Assessment Annex Table 5-16 lists a variety of psychological and neuropsychological measures for assessing individuals' functioning in each of the areas of interest. More generally, as discussed in the section on work-related functioning, ADLs, and IADLs, the SDS has been widely used to assess the effects of symptoms of different mental health conditions on an individual's functioning at work or in school, in social life, and in family or home responsibilities (Sheehan, 1983)
From page 156...
... 156 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE some physical feature(s) of certain work settings, e.g., one cannot tolerate dust or fumes"; and "difficulty performing the manipulative or postural functions of some work such as reaching, handling, stooping, climbing, crawling, or crouching."4 It is clear from the variety of physical and mental secondary impairments throughout all body systems, related symptoms (e.g., pain, fatigue)
From page 157...
... EFFECTS ON FUNCTION 157 may not be seen on standard imaging, necessitating the use of specialized imaging (e.g., flexion or extension imaging; magnetic resonance imaging [MRI] , potentially upright, if tolerated; dynamic or soft-tissue imaging)
From page 158...
... 158 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE body systems. Criteria in two of the listings for immune system disorders are especially relevant to the multisystem presentation and symptoms of HDCTs.
From page 159...
... EFFECTS ON FUNCTION 159 5-3. Both physical and mental conditions can precipitate or exacerbate decrements in physical and mental functioning in individuals with HDCTs.
From page 160...
... 160 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE 5-16. Some of the listings in SSA's Listing of Impairments -- Adult Listings include severity criteria for some of the secondary impairments that may be experienced by individuals with HDCTs such as MFS, EDS, and related disorders.
From page 161...
... EFFECTS ON FUNCTION 161 5-6. The combined effects of an individual's physical and/or mental secondary impairments may limit function with a degree of severity sufficient to preclude the ability to participate in work on a "regu lar and continuing basis" (8 hours per day, 5 days per week, or an equivalent work schedule)
From page 162...
... 162 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Baeza-Velasco, C., C Bourdon, R
From page 163...
... EFFECTS ON FUNCTION 163 Bechara, F
From page 164...
... 164 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Boehm, K., K
From page 165...
... EFFECTS ON FUNCTION 165 Camerota, F., C Celletti, M
From page 166...
... 166 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Cauldwell, M., P
From page 167...
... EFFECTS ON FUNCTION 167 Chohan, K., N Mittal, L
From page 168...
... 168 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Cook, K
From page 169...
... EFFECTS ON FUNCTION 169 Delis, D
From page 170...
... 170 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Eccles, J., V Iodice, N
From page 171...
... EFFECTS ON FUNCTION 171 Fu, Q., and B
From page 172...
... 172 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Graf, C
From page 173...
... EFFECTS ON FUNCTION 173 Hamilton, M
From page 174...
... 174 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Hernandez, A
From page 175...
... EFFECTS ON FUNCTION 175 Hurwitz, B
From page 176...
... 176 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Jesudas, R., A Chaudhury, and C
From page 177...
... EFFECTS ON FUNCTION 177 Keefe, R
From page 178...
... 178 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Kucera, S., and S
From page 179...
... EFFECTS ON FUNCTION 179 Lind, J., and H
From page 180...
... 180 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Makatsariya, A., L Radetskaya, V
From page 181...
... EFFECTS ON FUNCTION 181 Meterko, M., E
From page 182...
... 182 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE NASEM (National Academies of Sciences, Engineering, and Medicine)
From page 183...
... EFFECTS ON FUNCTION 183 Oliveira, C
From page 184...
... 184 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Pescatello, L
From page 185...
... EFFECTS ON FUNCTION 185 Reinstein, E., M Pimentel, M
From page 186...
... 186 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Romano, P
From page 187...
... EFFECTS ON FUNCTION 187 Rueda, J
From page 188...
... 188 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE Segev, F., E
From page 189...
... EFFECTS ON FUNCTION 189 Shirley Ryan AbilityLab.
From page 191...
... EFFECTS ON FUNCTION 191 Syx, D., I De Wandele, L
From page 192...
... 192 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE van der Linde, D., I
From page 193...
... EFFECTS ON FUNCTION 193 Wallis, J
From page 194...
... 194 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE WHO (World Health Organization)
From page 195...
... EFFECTS ON FUNCTION 195 ANNEX TABLE 5-1 Levels of Work Based on Physical Exertion Requirements Level of Work Definition Sedentary Sedentary work involves "lifting no more than 10 pounds at a time and occasionally lifting or carrying articles like docket files, ledgers, and small tools" (SSA, n.d.-e)
From page 196...
... 196 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE ANNEX TABLE 5-1 Continued Level of Work Definition Medium Medium work involves lifting no more than 50 pounds at a time with frequent lifting or carrying of objects weighing up to 25 pounds. A full range of medium work requires standing or walking, off and on, for a total of approximately 6 hours in an 8-hour workday in order to meet the requirements of frequent lifting or carrying objects weighing up to 25 pounds.
From page 197...
... EFFECTS ON FUNCTION 197 ANNEX TABLE 5-2 Physical Activities; Vision, Hearing, and Speech; and Mental Activities Activity Definition Physical Activities Sitting For the purpose of collecting occupational data, the U.S. Bureau of Labor Statistics considers sitting to be present when any of the following conditions exists: • Workers remain in a seated position.
From page 198...
... 198 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE ANNEX TABLE 5-2 Continued Activity Definition Pushing/pulling Use of upper and/or lower extremities to exert force upon an object so that the object moves away from or toward the origin of the force (BLS, 2020, p.
From page 199...
... EFFECTS ON FUNCTION 199 ANNEX TABLE 5-2 Continued Activity Definition Low work Low work is a group of activities that includes stooping, crouching, kneeling, crawling, and lying on the ground. Stooping is the act of "bending the body forward and down while bending the spine at the waist 45 degrees or more either over something below waist level or down towards an object on or near the ground" (BLS, 2020, p.
From page 200...
... 200 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE ANNEX TABLE 5-2 Continued Activity Definition Speaking "Expressing or exchanging ideas by means of the spoken word to impart oral information to clients or the public and to convey detailed spoken instructions to other workers accurately, loudly, or quickly" (BLS, 2020, p.
From page 201...
... ANNEX TABLE 5-3 Selected Musculoskeletal Manifestations Associated with Heritable Disorders of Connective Tissue HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Subluxations and Patella • Hypermobile • Physical exam • Physical therapya dislocations EDS (hEDS)
From page 202...
... ANNEX TABLE 5-3 Continued 202 HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Ankle/subtalar joint • HSD • Physical exam • Medications (oral)
From page 203...
... Rib • hEDS/HSD • Physical exam (Imaging • Physical therapya • EDS (other often cannot pick up subtle • Self-administered interventionsb subtypes) malalignments.)
From page 204...
... ANNEX TABLE 5-3 Continued 204 HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Instability Cervical • HSD • Gentle cervical traction for • Physical therapya (Mechanical • EDS (all diagnostic purposes only cervical traction may be used for types)
From page 205...
... Costochondritis • hEDS/HSD • Physical exam • Physical therapya • EDS (other • Other tests to rule out other • Self-administered interventionsb subtypes) conditions • Medications (oral, topical, injectable)
From page 206...
... ANNEX TABLE 5-3 Continued 206 HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Chronic pain syndrome • All • Physical exam • Physical therapya • Self-administered interventionsb • Occupational therapyc • Mind–body arts, such as yoga, Pilates, tai chi • Psychological support for pain management; CBT training for patients • Mast cell activation disease (MCAD)
From page 207...
... Headache • hEDS/HSD • Physical exam (looking for • Physical therapya; precaution with • EDS (other contributing factors, as well as mechanical traction, especially subtypes) pain generators)
From page 208...
... ANNEX TABLE 5-3 Continued 208 HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Cartilage Meniscus tears • All • Advanced imaging • Physical therapya disorders • CT arthrogram • Self-administered interventionsb • Physical exam • Orthoses, compression clothing, etc.
From page 209...
... Myofascial Muscle spasms/trigger • hEDS/HSD • Physical exam • Physical therapya disorders points • EDS (other • Self-administered interventionsb subtypes) • Occupational therapyc • Massage therapy • Movement art, such as Pilates, yoga, tai chi • Orthoses, splints, compression clothing, etc.
From page 210...
... ANNEX TABLE 5-3 Continued 210 HDCTs Manifestations (Selected) Common Diagnostic Techniques Potential Treatments Nerve Thoracic outlet • hEDS/HSD • Physical exam • Physical therapya compression syndrome • EDS (other • X-ray (1st rib)
From page 211...
... Morton's neuroma • MFS • Physical exam • Orthoses; custom orthoses may be • hEDS/HSD • Advanced imaging important • LDS • Physical therapya • Self-administered interventionsb • Medications (oral) • Injections • Surgical intervention Scoliosis • MFS • Physical exam • Physical therapya • LDS • Advanced imaging • Bracing • CCA • Surgical intervention Joint • MFS • Physical exam • Physical therapya contractures • CCA • Occupational therapyc • Botox injections • Bracing • Surgical release NOTES: CCA = congenital contractural arachnodactyly; CT = computed tomography; EDS = Ehlers-Danlos syndromes; EMG = electromyogram; HDCT = heritable disorder of connective tissue; HSD = hypermobility spectrum disorders; LDS = Loeys-Dietz syndrome; MFS = Marfan syndrome.
From page 212...
... ANNEX TABLE 5-3 Continued 212 • In addition to physical therapy, manual therapy approaches may be performed by a variety of professionals and include, but are not limited to, massage, soft-tissue mobilization, myofascial release, joint mobilizations (mobilizations are a precaution, and manipulations are contraindicated except by experts in manual therapy for EDS) , acupuncture, dry needling, and other named manual therapy approaches (e.g., "Mobilization with Movement," "Visceral Mobilization," or "Strain Counter strain"; many other terms are used)
From page 213...
... ANNEX TABLE 5-4 Selected Neurologic Manifestations Associated with Heritable Disorders of Connective Tissue HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Cranial disorders Migraines • hEDS/HSD • Clinical • Medications • EDS (other • Evaluation for postural • Environmental modifications subtypes, orthostatic tachycardia (e.g., avoid known triggers, unspecified)
From page 214...
... ANNEX TABLE 5-4 Continued 214 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Intracranial pressure Intracranial • hEDS/HSD • Advanced imaging • Medications changes hypertension • EDS (other • Intracranial pressure • Physical therapy subtypes monitoring • Occupational therapy unspecified)
From page 215...
... Atlanto-axial instability • hEDS/HSD • Advanced imaging • Medications • EDS (other • Physical therapy subtypes • Occupational therapy unspecified) • Environmental modifications • MFS • Surgical intervention • LDS Basilar invagination • EDS (subtypes • Advanced imaging • Medications unspecified)
From page 216...
... ANNEX TABLE 5-4 Continued 216 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Segmental instability • hEDS/HSD • Advanced imaging • Medications • EDS (other • Physical therapy subtypes • Occupational therapy unspecified)
From page 217...
... Instability or • EDS (subtypes • Advanced imaging • Medications malformation of the unspecified) • Physical therapy cervical and thoracic • MFS • Occupational therapy spine • LDS • Environmental modifications • Surgical intervention Movement disorders Dystonia • hEDS/HSD • Advanced imaging • Medications • EDS (other • Clinical • Physical therapy subtypes • Occupational therapy unspecified)
From page 218...
... ANNEX TABLE 5-4 Continued 218 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Neuropathies Compression • hEDS/HSD • Advanced imaging • Medications neuropathy • EDS (other • Clinical • Physical therapy subtypes • Occupational therapy unspecified)
From page 219...
... Small fiber neuropathy • hEDS/HSD • Clinical • Medications • EDS (other • Laboratory testing • Physical therapy subtypes • Skin biopsy • Occupational therapy unspecified) • Environmental modifications Dysautonomia POTS • hEDS/HSD • Clinical • Medications • EDS (other • Laboratory testing • Physical therapy subtypes • Occupational therapy unspecified)
From page 220...
... ANNEX TABLE 5-4 Continued 220 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Pure autonomic failure • EDS (subtypes • Clinical • Medications unspecified)
From page 221...
... Mitochondrial • EDS (subtypes • Clinical • Medications dysfunction, unspecified) • Laboratory testing • Physical therapy secondary • Occupational therapy • Environmental modifications NOTE: CSF = cerebrospinal fluid; EDS = Ehlers-Danlos syndrome; HDCT = heritable disorder of connective tissue; hEDS = hypermobile Ehlers-Danlos syndrome; HSD = hypermobility spectrum disorders; LDS = Loeys-Dietz syndrome; MFS = Marfan syndrome.
From page 222...
... ANNEX TABLE 5-5 Selected Cardiovascular and Hematologic Manifestations Associated with Heritable Disorders of Connective Tissue 222 Manifestations HDCTs (Selected) Common Diagnostic Potential Treatments Techniques Ascending aortic aneurysm • MFS • Echocardiogram • Limitations and restrictions • LDS • Advanced imaging • Beta-adrenergic blockade • CCA (e.g., CT, magnetic • Angiotension receptor blockade • SGS (rare)
From page 223...
... Mitral valve prolapse  • MFS • Echocardiogram • Mitral valve repair or replacement • LDS • Treatment for atrial fibrillation • CCA • EDS (most types) Arterial tortuosity • MFS • Advanced imaging • Regular imaging; frequency depends of • LDS severity of tortuosity and association with arterial dilatation • Arterial surgery in cases of severity and rapid progression of dilatation • Beta-adrenergic blockade, angiotensin receptor blockade, or both Arterial rupture  • vEDS • Emergency surgery Varicose veins • MFS • Compression sleeve if varicosities are • LDS superficial • EDS (most types)
From page 224...
... ANNEX TABLE 5-5 Continued 224 Manifestations HDCTs (Selected) Common Diagnostic Potential Treatments Techniques Excessive bleeding • EDS (many types)
From page 225...
... ANNEX TABLE 5-6 Selected Respiratory Manifestations Associated with Heritable Disorders of Connective Tissue Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Inflammatory Asthma • EDS Objective confirmation of diagnosis • Inhaled medications • Classical EDS • Spirometry with flow-volume loops (corticosteroids, anticholinergic, (cEDS)
From page 226...
... ANNEX TABLE 5-6 Continued 226 Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Chronic or • EDS (subtypes • CT of sinuses -- evaluation for • Treatment of the underlying recurrent sinusitis unspecified)
From page 227...
... Costochondritis • hEDS/HSD • Physical examination • Physical therapy (see Annex • EDS (other • Rib X-rays Table 5-3, musculoskeletal table) subtypes)
From page 228...
... ANNEX TABLE 5-6 Continued 228 Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Structural, lung Spontaneous • vEDS • Chest X-ray • Oxygen pneumothorax • cEDS • Chest CT scan • Tube thoracostomy • Classical-like • Pleurodesis (clEDS)
From page 229...
... Structural, Diaphragm • EDS (subtypes • Chest CT scan • Surgical correction musculoskeletal rupture unspecified) Cervical spine • vEDS • Physical Exam • See Annex Tables 5-3 and instability • EDS (other • Spirometry 5-4 (musculoskeletal and subtypes)
From page 230...
... ANNEX TABLE 5-6 Continued 230 Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Procedural or Increased rates of • MFS • Continuous pulse oximetry • Noninvasive ventilation (e.g., postprocedural respiratory failure BiPAP)
From page 231...
... ANNEX TABLE 5-7 Selected Immunologic Manifestations Associated with Heritable Disorders of Connective Tissue HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Mast cell activation Skin • Hypermobile • Allergen specific IgE • Avoidance measures for disease (MCAD)
From page 232...
... ANNEX TABLE 5-7 Continued 232 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Mast cell activation Genitourinary • Tryptase • Oral medications (antihistamines)
From page 233...
... Delayed-type • Skin (atopic or • hEDS/HSD • CBC with differential • Oral medications: hypersensitivity contact dermatitis) • EDS • Elevated blood eosinophil immunosuppressants (DTH)
From page 234...
... ANNEX TABLE 5-7 Continued 234 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments Autoinflammatory • 3 cryopyrin- • hEDS/HSD • CBC • Oral immunosuppressants disorders associated periodic • EDS (other • Blood biochemistries • Biologics therapies syndromes types, • Sedimentation rate • Schnitzler syndrome unspecified)
From page 235...
... DTH: Hypersensitivity • hEDS /HSD • Esophagogastroduodenos- • Dietary elimination of suspected Gastrointestinal gastroenteritis (see • EDS copy (EGD) culprit foods disorders above)
From page 236...
... ANNEX TABLE 5-7 Continued 236 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments DTH: Addison's disease • hEDS/HSD • ACTH, morning cortisol • Mineral corticoid replacement Endocrinopathies • EDS • Advanced imaging and emergency protocol of (unspecified intravenous fluid replacement subtypes)
From page 237...
... Hereditary angioedema • hEDS /HSD • Complement studies C1- Acute attacks: (swelling) : skin, • EDS INH, C4, CH50 • Intravenous C1-esterase inhibitor oropharynx (unspecified replacement subtypes)
From page 238...
... ANNEX TABLE 5-7 Continued 238 HDCTs Common Diagnostic Manifestations (Selected) Techniques Potential Treatments DTH: Neurological Autoimmune • hEDS/HSD • Sinus questionnaire disorders neuropathies/ • EDS • Asthma screening encephalopathies (unspecified questionnaire subtypes)
From page 239...
... Postural orthostatic • Clinical • Medications tachycardia • Laboratory testing • Physical therapy syndrome/ • Lean test/tilt table (assess • Occupational therapy neuronal mediated cervical spine) • Environmental modifications hypotension Small fiber neuropathy • Clinical • Medications • Laboratory testing • Physical therapy • Small fiber neuropathy • Occupational therapy symptom inventory • Environmental modifications questionnaire (SFN-SIQ)
From page 240...
... ANNEX TABLE 5-7 Continued 240 NOTE: ACTH = adrenocorticotropic hormone; CRP = C-reactive protein; CSF = cerebrospinal fluid; EDS = Ehlers-Danlos syndromes; ESR = erythrocyte sedimentation rate; HDCT = heritable disorder of connective tissue; HSCT = hematopoietic stem cell transplantation; HSD = hypermobility spectrum disorder; IPEX = immune dysregulation, polyendocrinopathy, enteropathy, X-linked; RAST = radioallergosorbent test. SOURCES: Abonia et al., 2013; Arkwright and Gennery, 2011; Cazzato et al., 2016; Cheung and Vadas, 2015; Dang et al., 2019; Hamilton, 2018; Hamilton et al., 2021; Khan, 2013; Leganger et al., 2022; Louisias et al., 2013; Luskin et al., 2021; Lyons et al., 2016; Morgan et al., 2007; Shin et al., 2010; Theoharides et al., 2015; Whitmore and Theoharides, 2011.
From page 241...
... ANNEX TABLE 5-8 Selected Gastrointestinal Manifestations Associated with Heritable Disorders of Connective Tissue Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments GastrointestinaI (GI)
From page 242...
... ANNEX TABLE 5-8 Continued 242 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Superior mesenteric • EDS (unspecified • Duplex • Surgical intervention artery syndrome subtypes)
From page 243...
... Inflammatory bowel • EDS (unspecified • Biopsy by endoscopy • Nutritional consultation diseases: subtypes) • Fecal calprotectin • Medication management • Crohn's disease • LDS • Stool samples • Physical therapy • Ulcerative colitis • CBC • Surgical intervention • Microscopic colitis • Food allergy testing • Other mucosal inflammatory disorders Celiac disease • EDS (unspecified • Blood test • Nutritional consultation subtypes)
From page 244...
... ANNEX TABLE 5-9 Selected Cutaneous Manifestations Associated with Heritable Disorders of Connective Tissue 244 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Structural • Poor wound • Classical EDS • Full skin examination -- assess • Perform skin closure in healing; failure (cEDS)
From page 245...
... Inflammatory Inflammatory • cEDS • Environmental and food • Environmental modification dermatoses • hEDS allergen-specific IgE testing • Topical or systemic Atopic dermatitis • BCS • Eosinophilic cationic protein immunosuppressants • LDS • Skin biopsy • Barrier emollients • Biologics -- Dupilumab Urticaria/ • hEDS/HSD • Allergen-specific IgE testing • Conservative management angioedema • cEDS • Serum tryptase, urine • Environmental modification • LDS histamine • Medications (oral and topical) • CBC with differential • Biologics • Serum immunoglobulins • ANA, ESR • CH50, C3+C4, C1-inhibitor • Chronic urticaria panel anti IgE or anti-FcRe1 IgG continued 245
From page 246...
... ANNEX TABLE 5-9 Continued 246 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Neuropathic Complex regional • hEDS/HSD • Clinical • Medications pain syndrome • cEDS • Physical therapy Reflex sympathetic • Occupational therapy dystrophy • Environmental modifications syndrome Erythromelalgia • hEDS/HSD • Photographs of the affected • Topical lidocaine, capsaicin, • Gerhardt • cEDS areas during symptoms diclofenac gel 1%, brimonidine, disease are helpful (e.g., photos and compounded gabapentin • Mitchell disease of red feet or hands ointment 6% • Weir-Mitchell during symptoms -- the • Oral therapies include aspirin, disease redness is almost unique gabapentin, amitriptyline, to erythromelalgia when cyproheptadine, pregabalin, associated with the history)
From page 247...
... NOTE: ANA = antinuclear antibody; BCS = brittle cornea syndrome; EDS = Ehlers-Danlos syndrome; ESR = erythrocyte sedimentation rate; HDCT = heritable disorder of connective tissue; HSD = hypermobility spectrum disorder; LDS = Loeys-Dietz syndrome; MFS=Marfan syndrome. SOURCES: American Academy of Dermatology Association, 2022; Bechara et al., 2007; Castori, 2012; Catala-Pétavy et al., 2009; Kalava et al., 2013; Malfait et al., 2017; Oaklander and Klein, 2013; Tang et al., 2015.
From page 248...
... ANNEX TABLE 5-10 Selected Genitourinary Manifestations Associated with Heritable Disorders of Connective Tissue 248 Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Pelvic floor Stress urinary • MFS • Medical history and physical • Dependent on type of urinary disorders incontinence • Hypermobile exam that may include pelvic and incontinence EDS (hEDS)
From page 249...
... Vulvodynia and • hEDS/HSD • Medical history and physical • PFPT dyspareunia • Classical EDS exam that includes the cotton • Psychological interventions (cEDS) swab test • Medications (antinociceptive • Vascular EDS agents, anti-inflammatory agents, (vEDS)
From page 250...
... ANNEX TABLE 5-10 Continued 250 Manifestations HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Renal Cysts • MFS • Ultrasonography • Management is based on abnormalities • vEDS • Advanced imaging symptomology • Renal cyst aspiration (usually with sclerotherapy)
From page 251...
... Uterine rupture • vEDS • Physical examination • Surgical management • EDS (other • Imaging if appropriate subtypes) • LDS Obstetrical • MFS • Physical and laboratory • Medical and surgical management hemorrhage • LDS examinations • vEDS • cEDS • Classical-like EDS NOTE: CT = computed tomography; EDS = Ehlers-Danlos syndrome; HDCT = heritable disorder of connective tissue; HSD = hypermobility spectrum disorder; LDS = LoeysDietz syndrome; MFS = Marfan syndrome.
From page 252...
... ANNEX TABLE 5-11 Selected Vision, Hearing, and Speech Manifestations Associated with Heritable Disorders of Connective Tissue 252 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Vision Disorders of Thinning and steepening • Classical EDS (cEDS)
From page 253...
... Disorders of • Dry eye • cEDS • Schirmer's test • Artificial lubrication conjunctiva • hEDS • Tear osmolarity • Punctal occlusion • Slit lamp exam • Tear quality improvement • Tear break-up time medications • Conjunctivochalasis • cEDS • Slit lamp exam • Conjunctivoplasty • hEDS • Schirmer's test • Artificial lubrication • Classical-like EDS (clEDS) • Tear break-up time • Punctal occlusion • Tear osmolarity • Tear quality improvement medications • Subconjunctival • clEDS • Slit lamp exam • Wait for hemorrhage to clear hemorrhage • Blue sclera • mcEDS • Gross examination • Counseling for psychological • cEDS effects of unusual cosmesis • hEDS • Scleral patch graft (if scleral • vEDS ectasia)
From page 254...
... ANNEX TABLE 5-11 Continued 254 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Disorders of • Cataract • MFS • Slit lamp exam • Refraction/retinoscopy lens/iris • Cataract extraction • Ectopia lentis/ • MFS • Slit lamp exam • Refraction dislocation • Ultrasound • Lensectomy biomicroscopy • Iris coloboma • mcEDS • Slit lamp exam • Glare reduction by • Anterior segment UBM spectacles, specialty contact or OCT lenses, window tint, screen guards • Iris prosthesis • Iridoplasty • Iris transillumination • MFS • Slit lamp exam • Glare reduction by spectacles, specialty contact lenses, window tint, screen guards
From page 255...
... Disorders of • Floppy eyelid • cEDS • Manual exam of eyelid • Nocturnal lubrication eyelid/face/ • Plastic surgery orbit • Proptosis (from • vEDS • CTA/MRA and CTV/MRV • Endovascular embolization cavernous-carotid • Hertel's fistula) exophthalmometry • Hypertelorism • Arthrochalasia EDS • Pupillary distance • Observation (aEDS)
From page 256...
... ANNEX TABLE 5-11 Continued 256 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Disorders of • Amblyopia • MFS • Refraction • Treatment of underlying optic nerve/ • LDS • Slit lamp exam cause brain • EDS (unspecified • Possibly brain imaging • Occlusion of better subtypes)
From page 257...
... • Papilledema (from • hEDS • Dilated fundoscopic • ICP-lowering medication Chiari) • LDS exam • Memantine for nystagmus • Downbeat nystagmus • B-scan ultrasonography • Surgical decompression of (from Chiari)
From page 258...
... ANNEX TABLE 5-11 Continued 258 Common Diagnostic Manifestations HDCTs (Selected) Techniques Potential Treatments Disorders of • Retinal detachment • Cardiac-valvular EDS • Refraction • Laser retinopexy for retina retina (cvEDS)
From page 259...
... • Conductive hearing • EDS (unspecified • Advanced imaging • Hearing aids impairment subtype) • Clinical • Medication • MFS • Diagnostic pure tone • Surgical intervention • LDS audiometry • Environmental modification • Speech audiometry • Bone conduction testing • Mixed sensorineural • EDS (unspecified • Advanced imaging • Medication and conductive subtype)
From page 260...
... ANNEX TABLE 5-12 Selected Neuropsychiatric Conditions Potentially Connected with Heritable Disorders of Connective Tissue 260 Conditions HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Cognitive dysfunction/mild • EDS (all types)
From page 261...
... Anxiety disorders • hEDS/HSD Structured interviews: • Psychotherapy • MFS • SCID • Medication management • MINI • Support groups Self-reported measures: • Stress management techniques • Beck Anxiety Inventory • Occupational therapy • Hospital Anxiety and • Physical therapy Depression Scale • Panic and Agoraphobia Scale (Bandelow, 1999) continued 261
From page 262...
... ANNEX TABLE 5-12 Continued 262 Conditions HDCTs (Selected) Common Diagnostic Techniques Potential Treatments Intellectual disability • SGS Performance-based measures: • Occupational therapy • Differential Abilities Scale-II • Self-care (e.g., grooming, (Elliott, 2007)
From page 263...
... Personality disorder • hEDS/HSD Self-reported measures: • Psychotherapy • MFS • Borderline Personality • Medication management Disorder Checklist • Support groups • International Personality • Stress management techniques Disorder Examination • Occupational therapy • Personality Assessment Inventory Sleep disorders • hEDS/HSD • Sleep study • Psychotherapy • MFS Structured interviews: • Medication management • SCID • Support groups • MINI • Insomnia management techniques Self-reported measures: • Occupational therapy • Epworth Sleepiness Scale • Physical therapy Eating disorders • hEDS/HSD • Evaluation of gastrointestinal • Nutritional • MFS symptoms and disordered • Psychotherapy eating • Medication management Structured interviews: • Support groups • SCID • Stress management techniques • MINI • Occupational therapy Self-reported measures: • Eating Disorder Examination • Eating Attitudes Test (26) Attention-deficit/ • hEDS/HSD Structured interviews: • Medication management hyperactivity disorder • MFS • SCID • Psychotherapy and psychosocial (ADHD)
From page 264...
... ANNEX TABLE 5-12 Continued 264 NOTE: ADL = activities of daily living; EDS = Ehlers-Danlos syndrome; HDCT = heritable disorder of connective tissue; hEDS = hypermobile EDS; HSD = hypermobility spectrum disorder; MFS = Marfan syndrome; SGS = Shprintzen-Goldberg syndrome. SOURCES: Arnold et al., 2015; Baeza-Velasco et al., 2016, 2017, 2018, 2021, 2022a,b; Becker et al., 2021; Berglund et al., 2015; Bulbena-Cabré et al., 2021; Cederlöf et al., 2016; Cicerone et al., 2019; Doğan et al., 2011; Domany et al., 2018; Eccles et al., 2014; Greally, 2020; Hershenfeld et al., 2016; Hofman et al., 1988; Huang et al., 2020; Kandola and Stubbs, 2020; Kandola et al., 2018; Lambez et al., 2020; Langhinrichsen-Rohling et al., 2021; Lannoo et al., 1996; Moss et al., 2018; Nijs et al., 2018; NORD, 2017b; Oppizzi and Umberger, 2018; Pasquini et al., 2014; Reisberg et al., 1982; Ross et al., 2013; Shiari et al., 2013; Smith et al., 2013; Tsui et al., 2017; Wasim et al., 2019; Wells et al., 2020; Zhang and Yuan, 2019.
From page 265...
... ANNEX TABLE 5-13 Global Functioning Associated with Heritable Disorders of Connective Tissue Selected Assistive Potential Reasons for Technologies and Relevant Domain Limitation or Symptom Selected Assessments Accommodations Full-body functioning • Pain (see annex tables Performance-based measures: • These will be determined (physical) 5-3, musculoskeletal; • Bruininks-Oseretsky Test of Motor by the specific activity 5-4, neurological; 5-8, Proficiency, 2nd Edition (BOT-2)
From page 266...
... ANNEX TABLE 5-13 Continued 266 Selected Assistive Potential Reasons for Technologies and Relevant Domain Limitation or Symptom Selected Assessments Accommodations Work-related functioning, • Pain Performance-based measures: • Orthoses (e.g., splints, activities of daily living • Fatigue/deconditioning • ADL Profile (head injury and stroke) braces)
From page 267...
... Self-reported measures: • Work Disability Functional Assessment Battery (WD-FAB) Physical Function (Meterko et al., 2015; Meterko et al., 2019)
From page 268...
... ANNEX TABLE 5-13 Continued 268 Selected Assistive Potential Reasons for Technologies and Relevant Domain Limitation or Symptom Selected Assessments Accommodations Pain • Musculoskeletal disorders Self-reported measures: • Orthoses (e.g., braces, (see musculoskeletal table) • Visual Analog Scale (VAS)
From page 269...
... Fatigue • Poor sleep quality Performance-based measures: • Orthoses (e.g., braces, • Chronic pain • Polysomnography splints) • Deconditioning • Exercise testing to include aerobic • Compression clothing • Orthostatic intolerance/ capacity and neuromuscular • Assistive devices (e.g., dysautonomia performance (Liguori and American crutches, wheelchair, • Nutritional deficiencies College of Sports Medicine, 2021)
From page 270...
... ANNEX TABLE 5-14 Functional Implications for Physical Activities of Conditions Associated with Heritable Disorders of Connective Tissue 270 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Sitting • Pain (see musculoskeletal, Physical performance measures: • Orthoses (e.g., braces, splints) Note: especially neurological, • Functional Capacity Evaluation • Worksite modification, especially prolonged sitting gastrointestinal, and global (FCE)
From page 271...
... Standing • Pain Physical performance measures: • Ability to sit or stand at will Note: especially • Instability of lower-extremity • Sensory Organization Test (NeuroCom • Rest breaks prolonged standing, (LE) joints or UE joints if SMART EquiTest)
From page 272...
... ANNEX TABLE 5-14 Continued 272 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Walking • Pain Physical performance measures: • Orthoses Note: may be • Instability of spinal or LE • 6-minute walk test • Assistive devices impaired for or UE joints if assistive • 10-meter walk test (Physiopedia, n.d.) • Reorganization of worksite and/or long or short devices required; includes • Functional Gait Assessment adaptations to the worksite or how distances, over subluxations • Sensory Organization Test (NeuroCom the work is performed to minimize uneven ground or • Fatigue/deconditioning SMART EquiTest)
From page 273...
... Strenuous physical • Exercise intolerance Physical performance measures: • Potentially anything listed in this activity • Pain • Exercise testing table for other activities Note: potentially • Instability in any joint • Sensory Organization Test (NeuroCom includes all other • Fatigue/deconditioning SMART EquiTest) activities in this • Weakness Self-reported outcome measures: table, plus running • Balance dysfunction • LEFS and impact • Orthostatic intolerance/ • Disabilities of the Arm, Shoulder activities dysautonomia and Hand (DASH)
From page 274...
... ANNEX TABLE 5-14 Continued 274 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Carrying • Pain Physical performance measures: • Orthoses Note: usually • Instability in any joints • FCE or specific function testing by a • Assistive devices requires ability to • Weakness trained health care provider • Reorganization of worksite to stand, lift, and walk • Balance dysfunction • M-BESS minimize need to carry, such as a • Fatigue/deconditioning • Sensory Organization Test (NeuroCom counter of some kind that could • Orthostatic intolerance/ SMART EquiTest) allow pushing an item instead of dysautonomia • Foot Posture Index-6 carrying it • Neurological compromise Self-reported outcome measures: • Reorganization of job requirements • ABC Scale to minimize need to carry • DASH and QuickDASH • Devices to help with lifting and/ • PROMIS Upper-Extremity or carrying (e.g., carts, mechanical Questionnaire lifts)
From page 275...
... Reaching • Pain Physical performance measures: • Orthoses Note: may require • Instability in any joints • FCE or specific function testing by a • Reorganization of worksite to standing • Weakness trained health care provider minimize need to push/pull • Balance dysfunction • Sit-and-reach test • Reorganization of job requirements • Fatigue/deconditioning Self-reported outcome measures: to minimize need to push/pull • Orthostatic intolerance/ • DASH and QuickDASH • The use of reachers to assist with dysautonomia • PROMIS Upper-Extremity reaching for objects • Neurological compromise Questionnaire • Manual devices to help with moving • PREE materials (e.g., carts, trolleys) • PRWE • Powered devices to help with • MHQ moving materials • WOSI • Rest breaks • Compression clothing Reaching overhead • Pain Physical performance measures: • Orthoses Note: requires neck • Instability of UE or spine • FCE or specific function testing by a • Reorganization of worksite to extension; may joints trained health care provider minimize need to reach require standing • Weakness Self-reported outcome measures: • Reorganization of job requirements • Balance dysfunction • DASH and QuickDASH to minimize need to reach • Fatigue • PROMIS Upper-Extremity • The use of reachers to assist with • Orthostatic intolerance Questionnaire reaching for objects • Neurological compromise • PREE • Devices to help with reaching (e.g., • PRWE grabbers)
From page 276...
... ANNEX TABLE 5-14 Continued 276 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Gross manipulation • Pain Physical performance measures: • Orthoses Note: requires • Instability in spine or UE • FCE or specific function testing by a • Ergonomic tools ability to sit and/or joints trained health care provider • The use of reachers to assist with stand • Weakness • Sequential Occupational Dexterity reaching and manipulating objects • Balance dysfunction Assessment (SODA) (van Lankveld et • Reorganization of worksite • Fatigue/deconditioning al., 1996)
From page 277...
... Foot/leg controls • Pain Physical performance measures: • Orthoses • Instability in lumbar or LE • FCE or specific function testing by a • Ergonomic tools joints trained health care provider • Reorganization of worksite to • Weakness Self-reported outcome measures: minimize need for foot/leg controls • Balance dysfunction • LEFS • Reorganization of job requirements • Fatigue/deconditioning • FAAM to minimize need for foot/leg • Orthostatic intolerance/ controls dysautonomia • Rest breaks • Neurological compromise • Compression clothing Climbing • Pain Physical performance measures: • Orthoses Note: may include • Instability any joints • FCE or specific function testing by a • Assistive devices stairs, ramps, • Weakness trained health care provider • Reorganization of worksite to ladders, scaffolding, • Balance dysfunction • Sensory Organization Test (NeuroCom minimize need to climb ropes, etc. Normal • Fatigue/deconditioning SMART EquiTest)
From page 278...
... ANNEX TABLE 5-14 Continued 278 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Low work, including • Pain Physical performance measures: • Orthoses stooping, crouching, • Instability any joints • FCE or specific function testing by a • Kneepads kneeling, crawling • Weakness trained health care provider • Assistive devices (e.g., reachers, or lying on the • Balance dysfunction, Self-reported outcome measures: scooters, rolling sit-carts, high–low ground including vestibular issues • LEFS chairs/stools) Note: includes need • Fatigue/deconditioning • WOMAC, KOOS, KOOS-PS, or other • Reorganization of job requirements to get up and down • Orthostatic intolerance/ knee outcome measures or work environment to minimize from the ground dysautonomia need for low work • Neurological compromise • Reorganization of worksite to minimize need for low work • Raise the level where work is done • Handrails or devices to assist with getting up and down • Rest breaks • Compression clothing NOTE: KOOS = Knee Injury and Osteoarthritis Outcome Score; WOMAC = Western Ontario and McMaster Universities Osteoarthritis Index.
From page 279...
... ANNEX TABLE 5-15 Functional Implications for Vision, Hearing, and Speaking Activities of Conditions Associated with Heritable Disorders of Connective Tissue Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Near visual acuity • Uncorrected refractive error • Snellen Chart • Over-the-counter reading glasses, • Accommodative insufficiency • Bailey-Lovie Chart prescription glasses or contact • Glare • Brightness acuity testing lenses, occasionally prism glasses • Cataract • Low-vision devices • Dislocated lens • Auditory replacements for vision • Cornea scarring tasks • Keratoconus • Glare-reducing equipment • Dry Eye • Retina scarring • Amblyopia Distance (far) • Uncorrected refractive error • Snellen Chart • Prescription glasses or contact visual acuity • Cataract • Bailey-Lovie Chart lenses • Dislocated lens • Brightness acuity testing • Low-vision devices • Cornea scarring • Orientation and mobility training • Keratoconus • Dry eye • Retina scarring • Amblyopia Binocular function • Reduced stereopsis • Orthoptic examination • Computerized orthoptic therapy • Strabismus • Titmus stereo test • Prism glasses • Deficient pursuits • Howard-Dolman test • Strabismus surgery • Vergence infacility • Infrared oculography • Sectoral occlusion • Deficient saccades continued 279
From page 280...
... ANNEX TABLE 5-14 Continued 280 Potential Reasons for Activity Selected Assistive Technologies and Activity Limitation Selected Functional Assessments Reasonable Accommodations Peripheral vision • Glaucoma • Perimetry • Low-vision devices • Retina scarring/detachment • Auditory accessories • Stroke (including ischemic and • Orientation and mobility training hemorrhagic) Hearing • Sensorineural hearing impairment Performance-based measures: • Hearing aids • Conductive hearing impairment • Pure tone audiometry • Personal sound-amplification • Mixed sensorineural and conductive • Speech recognition in noise products hearing impairment testing • Remote-microphone hearing • Internet- and telephone-based assistive technology screening • Captioning Self-reported outcome measures: • Telecommunications relay service • Hearing Handicap Inventory for • Other assistive technologies Adults (Newman et al., 1990)
From page 281...
... Speaking • Temporomandibular joint • Speech/Phoneme Intelligibility • Assistive technologies dysfunction Test (Madonna Rehabilitation • Environmental modification • Laryngeal dysfunction Hospitals, n.d.) • Occupational therapy • Vocal fatigue • Assessment of Intelligibility in Dysarthric Speech (Yorkston and Beukelman, 1984)
From page 282...
... ANNEX TABLE 5-16 Functional Implications for Mental Activities of Conditions Associated with Heritable Disorders of Connective Tissue 282 Potential Reasons for Selected Assistive Technologies and Activity Activity Limitation Selected Functional Assessments Reasonable Accommodations Understand, remember, • Pain Intellectual abilities and • Short, step-by-step instructions, and apply information • Fatigue general cognition recorded for play-back on cell • Mild cognitive impairment • Leiter International Performance phone (sometimes described as Scale, Third Edition (Roid et al., • Short, step-by-step, written "brain fog")
From page 283...
... Executive functioning • Delis-Kaplan Executive Function System (Delis et al., 2001) • Symbol Digit Modalities Test (Smith, 1973)
From page 284...
... ANNEX TABLE 5-16 Continued 284 Potential Reasons for Selected Assistive Technologies and Activity Activity Limitation Selected Functional Assessments Reasonable Accommodations Problem solve • Mild cognitive impairment Intellectual abilities and • Short, step-by-step instructions, • Pain general cognition recorded for play-back on cell • Fatigue • See above phone • Mood (low, high) Executive functioning • Short, step-by-step, written • Depression • See above instructions in plain language, on • Anxiety Self-reported measures: cell phone, pocket cards, or wall • Hyperactivity • BAI signs • Attention deficit • BDI • Tasks broken down into sequential • Hospital Anxiety and Depression steps, outlined in simple language, Scale and posted within view at the worksite • Tasks broken down into sequential steps and outlined in simple language via recordings in short, simple, sentences, that provide specific instructions for work tasks • Work performed in a quiet area without distractions • Provision of a job coach
From page 285...
... Concentrate, persist, or • Pain Attention and working memory • Work performed in a quiet area maintain pace • Fatigue • See above without distractions • Cognitive impairment Processing speed • Use of a noise-canceling headset • Mood (low, high) • Symbol Digit Modalities Test (Smith, • Short, step-by-step instructions, • Depression 1973)
From page 286...
... ANNEX TABLE 5-16 Continued 286 Potential Reasons for Selected Assistive Technologies and Activity Activity Limitation Selected Functional Assessments Reasonable Accommodations Interact with others • Fatigue Adaptability/personal interactions • Structured, work-related, and/or • Cognitive impairment Self-reported measures: social activities • Mood (low, high) • WD-FAB (Marfeo et al., 2013)
From page 287...
... Adapt or manage • Depression Adaptive functioning • Work performed in a quiet area oneself • Anxiety • Adaptive Behavior Assessment without distractions • Fatigue System, Third Edition (Harrison and • Structured, work-related, and/or • Mood (low, high) Oakland, 2015)
From page 288...
... 288 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE ANNEX TABLE 5-17 Examples of Social Security Administration Listings That May Apply to Individuals with Heritable Disorders of Connective Tissue Listings* Notes 1.15 Disorders of the skeletal Standard imaging may not clearly demonstrate spine resulting in compromise abnormalities.
From page 289...
... EFFECTS ON FUNCTION 289 ANNEX TABLE 5-17 Continued Listings* Notes 1.21 Soft-tissue injury or Soft-tissue injuries/pain are very common.
From page 290...
... 290 SELECTED HERITABLE DISORDERS OF CONNECTIVE TISSUE ANNEX TABLE 5-17 Continued Listings* Notes 11.08 Spinal cord disorders 12.04 Depressive, bipolar, and related disorders 12.06 Anxiety and obsessive compulsive disorders 14.09 Inflammatory arthritis *

Key Terms



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