Orthopedic manifestations and implications for individuals with Costello syndrome

Detweiler, Stacey; Thacker, Mihir M.; Hopkins, Elizabeth; Conway, Laura; Gripp, Karen W.

doi:10.1002/ajmg.a.36047

Cited by 27 publications

(44 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Scoliosis, as well as kyphosis, has been reported in 17–63% of individuals with CS (Detweiler et al, ; Reinker et al, ; Stevenson & Yang, ; Yassir et al, ). Scoliosis can be severe and progressive.…”

Section: Musculoskeletal Findingsmentioning

confidence: 88%

“…Musculoskeletal findings are common and include scoliosis, pectus anomalies, osteopenia/osteoporosis, hip dysplasia/subluxation, vertical talus, tight Achilles tendons, large and small joint contractures, ulnar deviation of the wrists, hypotonia, joint laxity, and muscle weakness (Detweiler, Thacker, Hopkins, Conway, & Gripp, ; Reinker, Stevenson, & Tsung, ; Stevenson & Yang, ; Yassir, Grottkau, & Goldberg, ). Decreased bone mineral density has been reported in multiple RASopathies and is common in CS (Detweiler et al, ; Leoni et al, ; Stevenson et al, ; White et al, ). Osteopenia may be present and individuals may be symptomatic (White et al, ).…”

Section: Musculoskeletal Findingsmentioning

confidence: 99%

“…Pectus abnormalities are frequent (6–30%), but rarely require intervention (Detweiler et al, ; Yassir et al, ). Reversal of the normal sagittal profile of the spine with thoracic lordosis and lumbar kyphosis may be seen (Detweiler et al, ).…”

Section: Musculoskeletal Findingsmentioning

confidence: 99%

See 2 more Smart Citations

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

Self Cite

102

111

View full text Add to dashboard Cite

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues;however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are

show abstract

Section: Musculoskeletal Findingsmentioning

confidence: 88%

Section: Musculoskeletal Findingsmentioning

confidence: 99%

See 1 more Smart Citation

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

Self Cite

102

111

View full text Add to dashboard Cite

show abstract

“…<25%; Cans et al, 1999) of those with intellectual disabilities requiring postural care will have cerebral palsy. Indeed, a number of specific conditions related to intellectual disabilities may result in the need for postural care (Ager et al, 2006;Burns, Powell, Hsia, & Reinker, 2003;Butler et al, 2002;Damasceno, Cristante, Marcon, & Barros Filho, 2014;Detweiler, Thacker, Hopkins, Conway, & Gripp, 2013;Imagama et al, 2013;Karmaniolou, Krishnan, Galtrey, Cleland, & Vijayaraghavan, 2015;Kerr, Webb, Prescott, & Milne, 2003;Laurier et al, 2015;Li, Shen, Liang, & Sheng, 2015;de Lind van Wijngaarden, de Klerk, Festen, & Hokken-Koelega, 2008;Takebayashi et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Postural care for people with intellectual disabilities and severely impaired motor function: A scoping review

Robertson

Baines

Emerson

et al. 2016

Research Intellect Disabil

View full text Add to dashboard Cite

Background: Poor postural care can have severe and life-threatening complications.This scoping review aims to map and summarize existing evidence regarding postural care for people with intellectual disabilities and severely impaired motor function.Method: Studies were identified via electronic database searches (MEDLINE, CINAHL, PsycINFO and Web of Science) covering January 1990 to March 2016, and email requests to researcher networks. Results were collated via descriptive numerical summary of studies and thematic analysis. Results:Twenty-three studies were identified and summarized narratively in relation to three themes: characteristics and prevalence, interventions and service related issues. The evidence base is small with significant gaps. Lack of evidence for nighttime positioning equipment and 24-hr postural care needs to be addressed urgently. Conclusion:Future research should be clearly directed towards ascertaining how best postural care interventions can be employed to help improve the health and quality of life of people with intellectual disabilities. K E Y W O R D Sintellectual disabilities, postural care, scoping review |Published for the British Institute of Learning Disabilities ROBERTSON ET al. posture also underpin the ability to function and access the environment (Crawford & Stinson, 2015).Over the past 15 years, there has been increased awareness of the need to provide postural care over the entire 24-hr period. This usually involves adaptive seating and/or moulded wheelchairs; night-time positioning equipment (NTPE); moving and handling techniques; and advice and training across all settings that the person accesses (Crawford & Stinson, 2015). NTPE can be used during the substantial proportion of the day when the person is in bed and has been reported to be beneficial even for those with established body shape distortion (Goldsmith, 2000).It has been proposed that most people who lack the ability to change their position would benefit from 24-hr body positioning (Crawford & Stinson, 2015) and that 24-hr postural care strategies should be considered in physical therapy programmes to prevent or delay the development of contractures or skeletal deformities in children and young people at risk of developing these (National Institute for Health & Care Excellence, 2012). However, disabled children generally are not being provided with the specialist equipment they require (such as seating and postural support systems), with provision of equipment being patchy at best (Centre for Economics and Business Research, 2014). It is widely accepted that the current systems that provide equipment and related services to children fail (CSED Consultant's Report, 2010).The importance of the issue of postural care in relation to people with intellectual disabilities has been highlighted in a number of reports noting gaps in services and the need to provide postural care interventions to prevent postural deformities from developing (Heslop et al., 2013;Mansell, 2010;Michael, 2008, RCGP, 2012. No systematic...

show abstract

“…Neurologic complications in CS and CFCS include hypotonia and Chiari I malformation, with additional complications in both disorders [Rauen, 2007;Detweiler et al, 2013]. Common musculoskeletal manifestations include kyphosis, scoliosis, anterior chest wall anomalies, pes planus, osteoporosis, osteopenia, and hand anomalies [Yassir et al, 2003;Aoki et al, 2005;Gripp and Lin, 2006;Rauen, 2007;Stevenson and Yang, 2011;Detweiler et al, 2013]. There is little research comparing the function and disability level between groups of individuals with RAS pathway disorders [Cesarini et al, 2009], however, clinical presentation suggests that CS and CFCS are associated with more severe developmental delays.…”

Section: Introductionmentioning

confidence: 99%

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

Johnson

Goldberg-Strassler

Gripp

et al. 2014

American J of Med Genetics Pt A

View full text Add to dashboard Cite

There is limited research on function in individuals with RASopathies. Our hypothesis was that there was function and disability differences between Costello syndrome (CS) and Cardiofaciocutaneous syndrome (CFCS). The purpose of this study was to describe and compare the functional performance and level of disability of children with CS and CFCS using the Pediatric Outcomes Data Collection Instrument (PODCI) and Pediatric Evaluation of Disability Index (PEDI). Parents of individuals with a medical diagnosis of CS and CFCS completed the computer or paper version of the questionnaires. Comparisons of response data were made between the two syndromes and published normative data. Fifty-two parents participated in the study, 38 in the CS group and 14 in the CFCS group. There were no significant differences in PODCI or PEDI scores between the CS and CFCS groups. There were statistically significant differences from normative values for all PODCI domains (P ≤ 0.012). The PEDI T-scores of both groups were greater than two standard deviations below normative scores in mobility (CS = 12.37, CFCS = 2.37), social (CS = 24.01, CFCS = 20.08), and activity (CS = 15.88, CFCS = 14.32). Responsibility T scores were in the normal range (30-70) for the CS group (31.38), but not for the CFCS group (28.40). The CS and CFCS groups had activity limitations in the PODCI domains of upper extremity function, transfers, and mobility, sport and physical function. These functional limitations cause significant disability in the PEDI domains of daily activity, mobility, and socialization and cognition. CS and CFCS are similar conditions in respect to functional limitations and severity of disability.

show abstract

Orthopedic manifestations and implications for individuals with Costello syndrome

Cited by 27 publications

References 15 publications

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Postural care for people with intellectual disabilities and severely impaired motor function: A scoping review

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

Contact Info

Product

Resources

About