Bone Mineral Density and Functional Measures in Patients With Arthrogryposis

Spencer, Hillard T.; Bowen, Richard E.; Caputo, Kimberly; Green, Terri A.; Lawrence, John F.

doi:10.1097/bpo.0b013e3181df6185

Cited by 28 publications

(29 citation statements)

References 21 publications

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“…Mean and age range were not calculated as age of participants was not provided in four studies. Nine studies included pediatric populations (Azbell & Dannemiller, ; Behm & Kearns, ; Canavese & Sussman, ; Cassis & Capdevila, ; Chotigavanichaya, Ariyawatkul, Eamsobhana, & Kaewpornsawan, ; Matar, Beirne, & Garg, ; Savenkov, Pajardi, Agranovich, & Zabolskiy, ; Segev, Ezra, Yaniv, Wientroub, & Hemo, ; Spencer et al, ), and nine studies included only adult populations (Dai et al, ; Dalton, Magill, & Mulhall, ; de Andrade, Hotta, Mazzetto, de Felicio, & Bataglion, ; Fisher & Fisher, ; Hartley, Baker, & Whittaker, ; Jones et al, ; Nouraei et al, ; Riemer & Steen, ; Sneddon, ). Two studies included both pediatric and adult populations (Kimber, Tajsharghi, Kroksmark, Oldfors, & Tulinius, ; Nicomedez, Li, & Leong, ), and one study did not specify age of participants (Yau, Chow, Li, & Leong, ).…”

Section: Resultsmentioning

confidence: 99%

“…Nine of the 21 studies used one or more tools or outcome measures to assess pain (Azbell & Dannemiller, ; Behm & Kearns, ; Chotigavanichaya et al, ; Dalton et al, ; Jones et al, ; Nicomedez et al, ; Nouraei et al, ; Segev et al, ; Spencer et al, ). Twelve tools were used to assess pain in AMC, including one the Oswetry Disability Index (ODI), which was validated for use in adults with AMC by Jones et al ().…”

Section: Resultsmentioning

confidence: 99%

“…Six out of the 12 tools were designed to measure pain, such as the Modified Neonatal or Infant Pain Scale (Behm & Kearns, ), the Face, Legs, Activity, Cry and Consolability scale (FLACC) (Azbell & Dannemiller, ), and the Brief Pain Inventory (BPI) (Jones et al, ). The remaining six tools were primarily developed to measure another construct but included item(s) on pain, such as the Pediatric Outcomes Data Collection Instrument (PODCI) used in the study by Spencer and colleagues (Spencer et al, ). Two studies assessed some components of pain within a larger study using an online questionnaire (Hartley et al, ; Sneddon, ).…”

Section: Resultsmentioning

confidence: 99%

“…Kimber et al () reported that generalized muscle pain was less commonly reported in younger individuals with AMC compared with older individuals, and when pain was experienced in children, it was mostly attributed to the result of repeated surgical interventions, specifically in the feet. Two studies reported that pain was not a significant problem presenting in children with AMC (Canavese & Sussman, ; Spencer et al, ). In 30 patients aged 5 to 18 years, PODCI normative scores were normal in the pain and comfort domain (Spencer et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Arthrogryposis multiplex congenita (AMC) is a term used to describe multiple joint contractures that can affect the upper limbs, lower limbs, jaw, and/or spine (Hall, ). Typically, contractures in AMC are non‐progressive but are severe enough to limit independence in mobility and daily life activities, especially in the areas of upper extremity function, transfers, mobility, and physical activity (Amor, Spaeth, Chafey, & Gogola, ; Dillon, Bjornson, Jaffe, Hall, & Song, ; Ho & Karol, ; Spencer, Bowen, Caputo, Green, & Lawrence, ). Individuals with AMC may also have impairments in other systems, including gastro‐intestinal, genito‐urinary and central nervous systems (Bernstein, ), abnormally slender and fragile long bones, and oral anomalies, such as, limited jaw mobility and muscle weakness, and periodontal disease (Alves, Zhao, Patel, & Bolognese, ; Brei, ; Mielnik‐Błaszczak & Borowska, ; Steinberg, Nelson, Feinberg, & Calhoun, ).…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review

Cirillo

Collins

Sawatzky

et al. 2019

American J of Med Genetics Pt C

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Clinical interventions and research have mostly focused on the orthopedic and genetic outcomes of individuals with arthrogryposis multiplex congenita (AMC), and although pain has gained recognition as an important issue experienced by individuals with AMC, it has received little attention within the AMC literature. The aims of this scoping review were to describe the pain experiences of children and adults with AMC, to identify pain assessment tools and management techniques, and document the impact of pain on participation in everyday activities among children and adults with AMC. A search of the literature was conducted in four search engines and identified a total of 89 articles. Once study eligibility was reviewed, 21 studies met the selection criteria and were included in this review. Pain appears to be more commonly experienced in adults with AMC compared with children with AMC, with individuals having undergone multiple corrective procedures self-reporting pain more often. In adult populations, musculoskeletal chronic pain is a significant problem, resulting in restrictions in activities of daily living, mobility, and participation. Researchers and clinicians must agree on the use of validated measures appropriate for evaluating pain in AMC and the use of appropriate pain management techniques to relieve pain. Pediatric studies should focus on determining how commonly pain is experienced in infants, children, and adolescents with AMC. Pain in adults with AMC should be acknowledged to offer proper client-centered interventions throughout the lifespan. K E Y W O R D S adult, arthrogryposis multiplex congenita, child, pain, participation

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review

Cirillo

Collins

Sawatzky

et al. 2019

American J of Med Genetics Pt C

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Amyoplasia revisited

Hall

Aldinger²,

Tanaka

2014

American J of Med Genetics Pt A

105

140

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Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnosis at this time. Care should be used making the diagnosis because of the implications for recurrence, natural history, associated anomalies, and both etiology and pathogenesis. We reviewed over 600 published reports and 2,500 individual records to identify the 560 individuals reported here. Affected limbs had characteristic positions with fatty-fibrous replacement of muscle. Upper limb involvement was usually characterized by extended elbows. Lower limbs were held in various positions at birth; however, equinovarus positioning of feet was almost always present. Symmetric involvement was common. Among 560 affected individuals, subtypes were identified: four-limb symmetric involvement (331/560 = 55.9%), severe involvement (41/560 = 7.3%), three-limb involvement (27/560 = 4.8%), upper limb only Amyoplasia (ULA; 94/560 = 16.8%), and lower limb only Amyoplasia (LLA; 25/560 = 15.5%). Discordant monozygotic twinning was increased, occurring in 6.6% (37/560; OR 10.9). A variety of additional anomalies were seen, attributed to apparent vascular compromise. Gastrointestinal vascular compromise-type anomalies were present in 9.1% (51/560), trunk muscle defects in another 2.7% (15/560), digit compromise in 12.1% (68/560), constriction rings in 4.3% (24/560), and perinatal long bone fractures in 10.5% (59/560). Although prenatal ultrasound became the standard of care in 1990, only about one quarter of affected pregnancies were diagnosed prenatally since 1990. Amyoplasia appears to be completely sporadic. Novel pathogenetic mechanisms for the congenital anomalies seen in Amyoplasia need to be identified.

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Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review

Gagnon

Caporuscio

Veilleux

et al. 2019

American J of Med Genetics Pt C

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Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures present in two or more body areas. Lack of fetal movement is the underlying cause of AMC, which can lead to abnormal connective tissue surrounding the joint resulting in stiffness and muscle atrophy. Treatment aims at improving function and mobility through surgical and/or conservative interventions. A scoping review was conducted to explore the existing knowledge of the evaluation and treatment of muscle and joint function in children with AMC. Three search engines were included and identified 1,271 articles. Eighty-seven studies met the selection criteria and were included in this review. All included studies focused on joints, 30 of which also assessed the muscle. Assessment most often included the position of the contractures (n = 72), as well as range of motion (n = 66). Interventions to improve muscle and joint function were reported in 82 of the 87 papers and included surgery (n = 70) and conservative interventions (n = 74) with bony surgery (i.e., osteotomy) the most common surgery and rehabilitation the most common conservative intervention. Recurrences of contractures were mentioned in 46 of the 68 studies providing a follow-up. Future studies should use validated measures to assess muscle and joint function, and conservative interventions should be described in greater detail and to include a longer follow-up.

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Bone Mineral Density and Functional Measures in Patients With Arthrogryposis

Abstract: Level II.

Cited by 28 publications

References 21 publications

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review

Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review

Amyoplasia revisited

Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review

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