The Experts below are selected from a list of 321 Experts worldwide ranked by ideXlab platform
Helen Leonard - One of the best experts on this subject based on the ideXlab platform.
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Perspectives on Hand Function in girls and women with Rett syndrome
Developmental neurorehabilitation, 2013Co-Authors: Jenny Downs, Helen Leonard, Stephanie Parkinson, Sonia Ranelli, Pamela Diener, Meir LotanAbstract:Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand Function is particularly affected and we discuss theoretical and practical perspectives for optimising Hand Function in Rett syndrome.Methods: We reviewed the literature pertaining to Hand Function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment.Results: There is little published information on management of Hand Function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning.Conclusion: Additional studies are needed to determine the best treatments for Hand Function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor con...
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Longitudinal Hand Function in Rett syndrome
Journal of child neurology, 2010Co-Authors: Jennepher Downs, Ami Bebbington, Walter E. Kaufmann, Helen LeonardAbstract:Loss of Hand Function is a core feature of Rett syndrome. This article describes longitudinal Hand Function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. In these subjects, a decrease in Hand Function was seen less frequently in girls 13 to 19 years old than in those younger than 8 years, in subjects with some mobility compared with those who were wheelchair bound, and in those who had previously been able to finger feed. Relationships with the magnitude of change reflected these findings. Change in Hand Function did not vary with clinical severity. The results for all subjects were similar to results obtained when analysis was restricted to those with a pathogenic mutation. Variability in the longitudinal course of Hand Function in Rett syndrome was observed.
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Level of purposeful Hand Function as a marker of clinical severity in Rett syndrome
Developmental medicine and child neurology, 2010Co-Authors: Jenny Downs, Ami Bebbington, Walter E. Kaufmann, Peter Jacoby, Anne Marie Williams, Soumya Ghosh, Helen LeonardAbstract:Aim We investigated relationships between Hand Function and genotype and aspects of phenotype in Rett syndrome. Method Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7y 10mo; range 2y–31y 10mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between Hand Function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of Hand stereotypies. Results Approximately two-thirds of participants demonstrated purposeful Hand Function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest Hand Function on multivariate analysis with C-terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04–0.95), whereas those with the p.R133C or p.R294X mutation had better Hand Function. Participants aged 19 years or older had lower Hand Function than those aged less than 8 years (OR 0.36; 95% CI 0.14–0.92). Factors that were associated with better Hand Function were lower Kerr scores for a 1-point increase in score (OR 0.77; 95% CI 0.69–0.86), higher WeeFIM scores for a 1-point increase in score (OR 1.08; 95% CI 1.04–1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02–73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. Interpretation Our novel assessment of Hand Function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.
Jenny Downs - One of the best experts on this subject based on the ideXlab platform.
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Perspectives on Hand Function in girls and women with Rett syndrome
Developmental neurorehabilitation, 2013Co-Authors: Jenny Downs, Helen Leonard, Stephanie Parkinson, Sonia Ranelli, Pamela Diener, Meir LotanAbstract:Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand Function is particularly affected and we discuss theoretical and practical perspectives for optimising Hand Function in Rett syndrome.Methods: We reviewed the literature pertaining to Hand Function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment.Results: There is little published information on management of Hand Function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning.Conclusion: Additional studies are needed to determine the best treatments for Hand Function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor con...
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Level of purposeful Hand Function as a marker of clinical severity in Rett syndrome
Developmental medicine and child neurology, 2010Co-Authors: Jenny Downs, Ami Bebbington, Walter E. Kaufmann, Peter Jacoby, Anne Marie Williams, Soumya Ghosh, Helen LeonardAbstract:Aim We investigated relationships between Hand Function and genotype and aspects of phenotype in Rett syndrome. Method Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7y 10mo; range 2y–31y 10mo), 110 of whom had a mutation of the methyl CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between Hand Function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of Hand stereotypies. Results Approximately two-thirds of participants demonstrated purposeful Hand Function, ranging from simple grasping skills to picking up and manipulating small objects. In participants with a confirmed MECP2 mutation, those with the p.R168X mutation had the poorest Hand Function on multivariate analysis with C-terminal deletion as the baseline (odds ratio [OR] 0.19; 95% confidence interval [CI] 0.04–0.95), whereas those with the p.R133C or p.R294X mutation had better Hand Function. Participants aged 19 years or older had lower Hand Function than those aged less than 8 years (OR 0.36; 95% CI 0.14–0.92). Factors that were associated with better Hand Function were lower Kerr scores for a 1-point increase in score (OR 0.77; 95% CI 0.69–0.86), higher WeeFIM scores for a 1-point increase in score (OR 1.08; 95% CI 1.04–1.12), and greater ambulation than those completely dependent on carers for mobility (OR 22.64; 95% CI 7.02–73.08). The results for participants with a confirmed pathogenic mutation were similar to results obtained when participants without a mutation were also included. Interpretation Our novel assessment of Hand Function in Rett syndrome correlated well with known profiles of common MECP2 mutations and overall clinical severity. This promising assessment could measure clinical responses to therapy.
Meir Lotan - One of the best experts on this subject based on the ideXlab platform.
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Perspectives on Hand Function in girls and women with Rett syndrome
Developmental neurorehabilitation, 2013Co-Authors: Jenny Downs, Helen Leonard, Stephanie Parkinson, Sonia Ranelli, Pamela Diener, Meir LotanAbstract:Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand Function is particularly affected and we discuss theoretical and practical perspectives for optimising Hand Function in Rett syndrome.Methods: We reviewed the literature pertaining to Hand Function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment.Results: There is little published information on management of Hand Function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning.Conclusion: Additional studies are needed to determine the best treatments for Hand Function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor con...
Etienne Burdet - One of the best experts on this subject based on the ideXlab platform.
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Robotic assessment of Hand Function with the HapticKnob
2010Co-Authors: Olivier Lambercy, Roger Gassert, Ludovic Dovat, Hong Yun, Seng Kwee Wee, Christopher Wee Keong Kuah, Karen Chua, Theodore E. Milner, Teo Chee Leong, Etienne BurdetAbstract:This paper investigates the assessment of Hand Function after stroke using the HapticKnob, an end-effector based robotic device to train grasping and forearm pronation/supination. A method to extract meaningful parameters to evaluate Hand Function from kinematic data recorded by the robot during rehabilitation exercises is presented. Step-wise regression analysis has been performed in an attempt to reconstruct clinical assessment scores from the kinematic data collected during a 6-week rehabilitation therapy with the HapticKnob Good correlations between clinical and reconstructed scores (r=0.669 for Fugl-Meyer Assessment, r=0.689 for Motricity Index, r=0.599 for Motor Assessment Scale, and r=0.792 for Modified Ashworth Scale) illustrate the potential of these objective measures to quantitatively evaluate Hand motor Function. This offers new possibilities to monitor patients' progress and customize exercise challenge during rehabilitation therapy.
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Robot-assisted Rehabilitation of Hand Function
Current opinion in neurology, 2010Co-Authors: Sivakumar Balasubramanian, Julius Klein, Etienne BurdetAbstract:Purpose of reviewInitial work on robot-assisted neurorehabilitation for the upper extremity aimed primarily at training, reaching movements with the proximal sections of the upper extremity. However, recent years have seen a surge in devices dedicated to Hand Function. This review describes the stat
Sivakumar Balasubramanian - One of the best experts on this subject based on the ideXlab platform.
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Robot-assisted Rehabilitation of Hand Function
Current opinion in neurology, 2010Co-Authors: Sivakumar Balasubramanian, Julius Klein, Etienne BurdetAbstract:Purpose of reviewInitial work on robot-assisted neurorehabilitation for the upper extremity aimed primarily at training, reaching movements with the proximal sections of the upper extremity. However, recent years have seen a surge in devices dedicated to Hand Function. This review describes the stat
