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Osteogenesis Imperfecta in Childhood: Impairment and Disability

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Osteogenesis Imperfecta in Childhood: Impairment and Disability Osteogenesis Imperfecta in Childhood: Impairment and Disability R. H. H. Engelbert, PhD*; Y. van der Graaf, MD, PhD‡; R. van Empelen, MA*; F. A. Beemer, MD, PhD§; and P. J. M. Helders, MSc, PhD* ABSTRACT. Objective. To determine clinical charac- perfecta, pediatrics, muscle strength, range of joint motion, teristics in children with osteogenesis imperfecta (OI) impairment, disability, functional outcome. regarding impairment (range of joint motion and muscle strength) and disability (functional skills) in relation to the different types of the disease, and to study the cor- ABBREVIATIONS. OI, osteogenesis imperfecta; JAM, alignment relation between characteristics of impairment and dis- and motion (scale); PEDI, Pediatric Evaluation of Disability Inven- ability. tory; MMT, manual muscle testing. Methods. In a cross-sectional study 54 children with OI (OI type I: 24; OI type III: 15; OI type IV: 15), the range Osteogenesis imperfecta (OI) is a congenital con- of joint motion, muscle strength, and functional ability nective tissue disorder. In all its forms OI probably were measured in a standardized way and analyzed sta- affects 1 in 5000 to 10 000 individuals without racial tistically. 1 Results. The range of joint motion in almost all joints or ethnic preference. Major clinical characteristics of differed significantly with respect to the different dis- OI include fragility of bone, osteopenia, variable de- ease types. In OI type I patients, generalized hypermo- grees of short stature, and progressive skeletal defor- bility of the joints was present, without decrease in joint mities. Additional clinical manifestations are blue motion. In OI type III the extremities were severely ma- sclerae, dentinogenesis imperfecta, joint laxity, and ligned, especially the lower limbs. In type IV the upper maturity-onset deafness.2 The nonlethal OI syn- and lower extremities were equally maligned. Muscle dromes are subdivided into six types (IA, IB, II, III, strength differed significantly with respect to the differ- 3,4 ent types of OI. In type I patients, muscle strength was IVA, and IVB). The most common type, OI type I, normal except for the periarticular hip muscles. In type is characterized by osteopenia leading to fractures, III, especially in the lower extremities, muscle strength distinctly blue sclerae, and a high incidence of adult- was severely decreased, with a muscular imbalance onset conductive hearing loss. Within type I are two around the hip joint. In type IV, muscle strength was subgroups, IA characterized by normal teeth, and IB mainly decreased in the proximal muscles of the upper with dentinogenesis imperfecta. OI type II is usually and lower extremities. In children 7.5 years of age, lethal in the perinatal period. OI type III is charac- significant differences existed among the different dis- terized by severe osteopenia leading to multiple frac- ease types in functional skills regarding mobility. No tures, progressive deformity of bones and spine, and significant difference was observed in self-care and so- cial function, although the most severely affected chil- severely decreased height. dren showed a tendency to score better with social func- OI type IV is rare and is characterized by osteope- tion. Older children differed significantly concerning nia leading to fractures. Sclerae are normal. Short mobility and self-care items. In children 7.5 years old, a stature and deformity of the long bones and spine correlation was sometimes observed between impair- tend to be more marked in type IV than in type I. ment and disability items, although in older children a Some patients have normal teeth (type IVA). Others moderate to good correlation was always present (r > .6). have dentinogenesis imperfecta (type IVB). Conclusion. In OI, severity-related profiles exist, Although these clinical features provide a basis for within the different subtypes of the disease, regarding classification, a significant proportion of patients range of joint motion, muscle strength, and functional 4 skills. In younger children, impairment parameters do cannot be classified in this way. Studies on collagen not sufficiently correlate for disability. Rehabilitation I genes and their mutations in OI are numerous. strategies in younger children should therefore focus on Smith5 states that within the last two decades bio- improvement of functional skills and not only on impair- chemical advances have been so rapid that at one ment parameters. Pediatrics 1997;99(2). URL: http://www. time it seemed that OI could be explained entirely in pediatrics.org/cgi/content/full/99/2/e3; osteogenesis im- molecular terms. Current work suggests that this is not the case and that we still have much to learn about the relationship between phenotype and geno- From the *Department of Pediatric Physical Therapy, University Hospital type.5 for Children and Youth, “Wilhelmina Children’s Hospital”; ‡Department of 6 Clinical Epidemiology, Utrecht University Hospital; and §Clinical Genetics In 1965, Nagi introduced a scheme that delineated Center Utrecht, Utrecht, The Netherlands. the major pathways from disease or active pathology Received for publication Feb 20, 1996; accepted Aug 7, 1996. to various functional implications. This scheme con- Reprint requests to (R.H.H.E.) Department of Pediatric Physical Therapy, sisted of four domains: active pathology, impair- University Hospital for Children and Youth, “Wilhelmina Children’s Hos- ment, functional limitation, and disability. In 1980 pital,” P.O. Box 18009, 3501 CA Utrecht, The Netherlands. PEDIATRICS (ISSN 0031 4005). Copyright © 1997 by the American Acad- the World Health Organization introduced the Inter- emy of Pediatrics. national Classification of Impairments, Disabilities http://www.pediatrics.org/cgi/content/full/99/2/Downloaded from www.aappublications.org/newse3 by guestPEDIATRICS on September Vol. 27, 2021 99 No. 2 February 1997 1of7 and Handicaps,7 a system that classified the conse- testing criteria of the Medical Research Council using a 6-point quences of disease in three levels. Both schemes have scale (range: 0–5).14 Children , 5 years of age were excluded from muscle strength measurements because no reliable measurement guided disability research during the past 25 years could be performed. Muscle strength of the anteflexors and ab- and have undergone various modifications through ductors of the shoulder, flexors and extensors of the elbow, flexors the years. and extensors of the wrist, and flexors of the fingers were tested in Studies on impairment and disability issues in OI the upper extremities. In the lower extremities, flexors, abductors, patients are scarce. Rehabilitation approaches focus and extensors of the hip joint, flexors and extensors of the knee joint, and dorsal flexors and plantar flexors of the ankle joint were on improving range of motion of the joints as well as tested. muscle strength of trunk and extremity muscles. Im- Functional abilities regarding ambulation were scored accord- provement of functional abilities is mainly focused ing to the criteria of Bleck.15 He classified the possibility for am- on sitting, standing, and ambulation.8,9 bulation in a nonwalker, exercise walker, household walker, neighborhood walker, and community walker. Our purpose was to investigate impairment pat- Functional abilities and the amount of parental assistance were terns in OI, such as range of joint motion and muscle scored using a translated version of the Pediatric Evaluation of strength, as well as disability or functional limitation Disability Inventory (PEDI).16 The PEDI consists of two major items, such as functional skills and the amount of dimensions (functional skills scales and caregiver assistance parental assistance, in correlation to the different scales) in the content domains of self-care, mobility, and social function. The performance of functional tasks and activities is disease types. We also investigated correlations be- measured by the functional skills scale, which samples a set of tween impairment and disability items. behaviors that are believed to be important for daily functioning. The amount of help required to accomplish daily tasks is mea- METHODS sured by the caregiver assistance scales. Reference values are In this cross-sectional study, we examined 54 patients (27 boys provided for children between 0.5 and 7.5 years. Normal values . and 27 girls) with OI who were treated in our hospital, a national are defined in the range of 2 SD. Results of children 7.5 years are . referral center for children with OI. Children were included in this calculated as a scaled score. In healthy children 7.5 years of age, study only if the diagnosis of OI was definite. Children who had the normal score is 100%. recent fractures needing immobilization and children who had intramedullary stabilization of the long bones within the previous STATISTICS half year were excluded from the protocol because of the possible influence on range of motion, muscle strength, and functional The total score for muscle strength in the upper ability. All measurements were performed by the first author and lower extremities was calculated by adding the (R.H.H.E.). strength of all tested muscles and dividing by the Range of joint motion was measured in a standardized way number of tested muscles. In this way, the mean ratio with a standard two-legged goniometer, using the anatomical for muscle strength in the upper and lower extrem- landmark method. This method was found to be highly reproduc-
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