✦ LIBER ✦

Gait characteristics and functional assessment of children with Type I Osteogenesis Imperfecta

✍ Scribed by Adam Graf; Sahar Hassani; Joseph Krzak; Angela Caudill; Ann Flanagan; Ruta Bajorunaite; Gerald Harris; Peter Smith

Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 351 KB
Volume: 27
Category: Article
ISSN: 0736-0266
DOI: 10.1002/jor.20871

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The purpose of this study was to improve the evaluation process of children with type I Osteogenesis Imperfecta (OI) by providing a quantitative comparison of gait and selected functional assessments to age‐matched controls. A 14‐camera Vicon Motion Analysis System was used for gait analysis along with selected functional assessments (Pediatric Outcomes Data Collection Instrument [PODCI], Functional Assessment Questionnaire [FAQ], Faces Pain Scale‐Revised [FPS‐R]) conducted on 10 subjects with type I OI and 22 age‐matched healthy controls. The results of the OI group demonstrated abnormal gait parameters including increased double support, delayed foot off, reduced ankle range of motion and plantarflexion during third rocker, along with greater ankle power absorption during terminal stance and reduced ankle power generation during push off. The functional assessment scores of the OI group were similar to the control group for basic mobility and function, but were lower than their peers in the sports and physical function category. The evaluation of individuals with OI by means of gait analysis and selected functional assessments, along with an accurate biomechanical model of the lower extremities, is proposed to better understand and predict OI disability and improve quality of life. © 2009 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res

📜 SIMILAR VOLUMES

Mutational spectrum of type I collagen g

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta

✍ Kwang-Soo Lee; Hae-Ryong Song; Tae-Joon Cho; Hyon J. Kim; Tae-Mi Lee; Hyun-Seok 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB

## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha

Mutation analysis of COL1A1 and COL1A2 i

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

✍ Rebecca Pollitt; Robert McMahon; Janice Nunn; Robert Bamford; Amal Afifi; Nichol 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin

Substitution of glycine-172 by arginine

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

✍ Katrina Mackay; Anne De Paepe; Lieve Nuytinck; Raymond Dalgleish 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

Three novel type I collagen mutations in

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

✍ Adriana P. Sarafova; Hyeon Choi; Antonella Forlino; Anna Gajko; Wayne A. Cabral; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

In three cases of type IV osteogenesis imperfecta (OI), we identified unique point mutations in type I collagen alpha1(I) cDNA. In two cases, the appearance of dimers indicated the presence of cysteine substitutions in the alpha1(I) protein chain. Cyanogen bromide digestion localized these cross-lin

The retention of abnormal type I procoll

The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta

✍ Kojima, Toshihisa; Miyaishi, Osamu; Saga, Shinsuke; Ishiguro, Naoki; Tsutsui, Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Various mutations of genes encoding type I procollagen chains have been linked to osteogenesis imperfecta (OI). The mutations yield abnormal procollagen molecules that fold improperly. HSP 47, a stress-inducible protein localized to the endoplasmic reticulum (ER) of collagen-producing cells, may par

Splice site mutation causing deletion of

Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

✍ Alan C. Nicholls; Jane Oliver; Seamus McCarron; Gerald B. Winter; F. Michael Pop 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 672 KB

Communicated by Alec J. Jefieys An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures. Analysis of the collagens pro