Current knowledge of medical complications in adults with achondroplasia: A scoping review.

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.

Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia.

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/m2 , 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.

Face and construct validity of the Gait Deviation Index in adults with spastic cerebral palsy.

OBJECTIVE: To investigate face and construct validity of the Gait Deviation Index (GDI) in adults with spastic cerebral palsy. The International Classification of Functioning, Disability and Health (ICF) was used as a framework, defining gait and walking as the manner or style of walking ("body function"), and the execution of gait ("activity"), respectively. DESIGN: A cross-sectional study. PARTICIPANTS: 66 adults with spastic cerebral palsy, mean age 37 years, and previously collected data on 50 healthy adults (reference population). VARIABLES: GDI from three-dimensional gait analysis, Gross Motor Function Classification System (GMFCS), 6-min walk test (6MWT), Timed Up and Go (TUG), and Physiological Cost Index (PCI). RESULTS: Mean GDI was 74.3 in adults with cerebral palsy, and 101.1 in the reference population. A significant difference in GDI was found between the reference population and GMFCS level I (p < 0.001), between I and II (p < 0.001), but not between II and III (p = 0.633). The associations between GDI and 6MWT, TUG and PCI were r = 0.30, r = -0.30, and r = -0.56, respectively. CONCLUSION: 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.

Ambulant adults with spastic cerebral palsy: the validity of lower limb joint angle measurements from sagittal video recordings.

BACKGROUND: In the development of a clinical program for ambulant adults with cerebral palsy (CP), we investigated the validity of joint angles measured from sagittal video recordings and explored if movements in the transversal plane identified with three-dimensional gait analysis (3DGA) affected the validity of sagittal video joint angle measurements. METHODS: Ten observers, and 10 persons with spastic CP (19-63 years), Gross Motor Function Classification System I-II, participated in the study. Concurrent criterion validity between video joint angle measurements and 3DGA was assessed by Bland-Altman plots with mean differences and 95% limits of agreement (LoA). Pearson's correlation coefficients (r) and scatter plots were used supplementary. Transversal kinematics ≥2 SD from our reference band were defined as increased movement in the transversal plane. RESULTS: The overall mean differences in degrees between joint angles measured by 3DGA and video recordings (3°, 5° and -7° for the hip, knee and ankle respectively) and corresponding LoA (18°, 10° and 15° for the hip, knee and ankle, respectively) demonstrated substantial discrepancies between the two methods. The correlations ranged from low (r=0.39) to moderate (r=0.68). Discrepancy between the two measurements was seen both among persons with and without the presence of deviating transversal kinematics. CONCLUSION: Quantifying lower limb joint angles from sagittal video recordings in ambulant adults with spastic CP demonstrated low validity, and should be conducted with caution. This gives implications for selecting evaluation method of gait.

Effects of botulinum toxin A in ambulant adults with spastic cerebral palsy: a randomized double-blind placebo controlled-trial.

OBJECTIVE: This study aimed to assess short-term effects of botulinum toxin A in ambulant adults with spastic cerebral palsy. DESIGN: A single-centre double-blind, placebo-controlled, randomized clinical trial. SUBJECTS: Patients were recruited through advertisements. Inclusion criteria were: spastic cerebral palsy, age 18-65 years, decreased walking, walking without aids for minimum 20 m, and no cognitive impairments. METHODS: A total of 66 participants, mean age 37 (standard deviation 11.4) years, were enrolled and received injections of either botulinum toxin A (n=33) or placebo (n=33). Primary outcomes were: sagittal kinematics of ankle, knee and hip, and health-related quality of life (Short Form 36). Secondary outcomes were: visual analogue scale for muscle-stiffness/spasticity, Timed Up and Go, 6-minute walk test, and Global Scale of perceived effect. RESULTS: No significant differences were found between the groups in the primary outcomes. In the secondary outcomes the botulinum toxin A group rated improvement in visual analogue scale muscle-stiffness/spasticity and the Global Scale of perceived effect. No serious adverse events occurred. CONCLUSION: 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.

Walking ability and predictors of performance on the 6-minute walk test in adults with spastic cerebral palsy.

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. RESULTS: In total, 126 persons were included (53 males, 73 females; mean age 39 y [SD 12 y]; 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 485 m (SD 95 m) 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.