This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses Extension for Scoping Reviews). The selection of studies was based on criteria predefined in a review protocol. Twenty-nine publications were included; 2 reviews, and 27 primary studies. Key information such as reference details, study characteristics, topics of interest, main findings and the study author's conclusion are presented in text and tables. Over the past decades, there has only been a slight increase in publications on adults with achondroplasia. The reported morbidity rates and prevalence of medical complications are often based on a few studies where the methodology and representativeness can be questioned. Studies on sleep-related disorders and pregnancy-related complications were lacking. Multicenter natural history studies have recently been initiated. Future studies should report in accordance to methodological reference standards, to strengthen the reliability and generalizability of the findings, and to increase the relevance for implementing in clinical practice. K E Y W O R D S achondroplasia, adults, health-related quality of life, health status, medical complications, review
Botulinum toxin A injections alone gave no benefit over placebo in lower limb sagittal kinematics and Short Form 36 in ambulatory adults with cerebral palsy. However, self-reported rating of muscle-stiffness/spasticity and global effects indicated positive effects of botulinum toxin A. Further studies with specific post-injection rehabilitation and longer study period are warranted.
AIM To describe walking ability and identify factors predicting walking capacity in adults with spastic cerebral palsy (CP) assessed with the 6-minute walk test (6MWT).METHOD A cross-sectional clinical study as part of the recruitment process for a randomized controlled trial on the effects of botulinum toxin A. Data analysed were the 6MWT, Timed Up and Go (TUG) test, Borg Scale, spasticity, muscle strength, popliteal angle, pain, fatigue, type of CP, foot deformity, Gross Motor Function Classification System (GMFCS) levels, Functional Mobility Scale (FMS) scores, a gait questionnaire, interview, and demographic data. RESULTSIn total, 126 persons were included (53 males, 73 females; mean age 39y [SD 12y]; 59 with unilateral and 67 with bilateral spastic CP; GMFCS level I, n=12; level II, n=94; level III, n=20). Mean distance on the 6MWT was 485m (SD 95m) with FMS scores reflecting independent walking performance in daily life. Multiple regression analysis identified sex, type of CP, popliteal angle, pain, and TUG values as significant predictors, with TUG values as the strongest predictor (standardized regression coefficient =)0.57, p<0.001).INTERPRETATION Our results demonstrate that 39% of the participants had declined one GMFCS level from adolescence to their present age, and that the TUG was the strongest predictor for the 6MWT. This implicates the importance of focusing specifically on the different elements of functional mobility in further studies.Cerebral palsy (CP) is a group of permanent disorders of movement and posture, often accompanied by secondary musculoskeletal problems.1 Literature on children with CP supports a link between the levels of impairment and walking ability.1 However, the relation between self-reported declined walking ability and data on clinical measurements in adults needs more investigation.Surveys of adults with CP report that contractures, spasticity, pain, fatigue, as well as reduced muscle strength and balance, are associated with declined walking ability. 2-4The Gross Motor Function Classification System (GMFCS) categorizes gross motor function into five levels, with level I describing the highest level of function and level V the lowest.5 A study of individuals with CP aged up to 21 years showed that those classified at GMFCS levels III to V have their peak motor function in childhood, whereas individuals at levels I or II have a stable gross motor function. 6 However, surveys of adults with CP indicate that even persons at GMFCS levels I or II experience increasing walking difficulties in young adulthood.
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