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.

GDI demonstrated similar distributional properties as those reported in children with cerebral palsy, suggesting satisfactory face validity. Low correlations between GDI and 6MWT/TUG reflect that gait and functional walking/mobility are different constructs, implicating the importance of selecting outcomes in all ICF domains when evaluating walking ability in adults with spastic cerebral palsy.

No abstract

Individuals with achondroplasia have a high prevalence of obesity and increased risk of cardiovascular disease. Fat distribution, diet, and caloric intake are known risk factors, but the literature concerning diet and energy balance in achondroplasia is limited. The main aim of this study was to describe the anthropometrics, diet, and resting energy expenditure (REE) in a Norwegian adult achondroplasia population. Here, we present a descriptive cross-sectional study with the following variables: anthropometrics, the SmartDiet questionnaire, and dietary records. In addition, REE was measured and estimated using indirect calorimetry and prediction equations. A total of 33 adults with achondroplasia participated with a mean age of 40 years. Mean body mass index was 34.1 kg/m 2 , and mean waist circumference was 94.1 cm for men and 82.2 cm for women. Their diets were classified as unhealthy (38%) or in need of improvement (62%).The mean REE values for the total group were 21 kcal/kg for the male (n = 15) and 20 kcal/kg for the female (n = 18). This study revealed a high frequency of central obesity and unhealthy dietary habits in Norwegian adults with achondroplasia. Mean energy intake was low and only 10% higher than the mean REE, and does not explain the high prevalence of abdominal obesity in our population. K E Y W O R D S achondroplasia, body composition, body mass index, diet, resting energy expenditure, waist circumference

No abstract

Research Objectives: To compare the effects of gait training using a footpad-type locomotion interface (GTLI) with those of gait training using a body-weight support treadmill (BWST) in chronic post-stroke patients. Design: Non-randomized crossover pilot study. Setting: Outpatient department. Participants: Eleven ambulatory chronic post-stroke patients. Interventions: In group A (n Z 7), the patients underwent training using GTLI followed by that using BWST, whereas in group B (n Z 4), the patients underwent training using BWST followed by that using GTLI. All the participants underwent twelve 20-min sessions of both GTLI and BWST over 4 weeks. Main Outcome Measure(s): The outcome measures were maximum gait speed, timed up and go test (TUG), and isometric muscle strengths of both hip and knee flexion and extension. These measures were evaluated at pre-training, post-training, and 1 month post-training. There was a non-training period of at least 8 weeks between each training session. Results: There were no differences in the patient characteristics between the 2 groups. In comparison with using BWST, the muscle strength in paretic hip extension and knee flexion significantly improved using GTLI. However, in comparison with using BWST, the maximum gait speed and TUG did not significantly improve using GTLI. Conclusions: These results suggest that training using GTLI and BWST has similar effects on improving the gait and balance abilities. Conversely, training using GTLI is more effective in improving the lower-limb muscle strength than that using BWST. Key Words: Gait training, footpad-type locomotion interface, body weight support treadmill, Stroke Disclosures: None disclosed. Research Poster 635Effects of Gait Training with a Hybrid Assistive LimbÒ in Stroke Patients: A Randomized Controlled Study with a 2-month Follow-up Hiroki Watanabe (University of Tsukuba), Naoki Tanaka, Ryohei Goto, Hisako YanagiResearch Objectives: To compare the medium-term efficacy of gait training using a single-leg version of the Hybrid Assistive LimbÒ (HAL) on the paretic side with conventional gait training (CGT) in recovery phase stroke patients. Design: Randomized, open controlled trial with a 2-month follow-up. Setting: Hospitalized care. Participants: Out of a convenience sample of 47 patients who fulfilled the study criteria, 14 refused to participate. After randomization, 9 patients withdrew, leaving a total of 24 poststroke participants (HAL group: n Z 12, conventional group: n Z 12) who completed the randomized clinical trial. Interventions: Over 4 weeks, all the participants received twelve 20-minute sessions of either HAL (using the single-leg version of HAL on the paretic side) or CGT (performed by skilled and experienced physical therapists). Main Outcome Measure(s): The outcome measures were evaluated prior to training, after 12 sessions (4 weeks), and at 8 and 12 weeks after intervention initiation. The Functional Ambulation Category (FAC) was the primary outcome measure, whereas maximum walking speed, timed up-and-go...