Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study
Charcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is of primary importance. Often these patients presen...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.964254/full |
| _version_ | 1811198888539848704 |
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| author | Laura Mori Laura Mori Cristina Schenone Cristina Schenone Filippo Cotellessa Filippo Cotellessa Marta Ponzano Alessia Aiello Maria Lagostina Maria Lagostina Sara Massucco Sara Massucco Lucio Marinelli Lucio Marinelli Marina Grandis Marina Grandis Carlo Trompetto Carlo Trompetto Angelo Schenone Angelo Schenone |
| author_facet | Laura Mori Laura Mori Cristina Schenone Cristina Schenone Filippo Cotellessa Filippo Cotellessa Marta Ponzano Alessia Aiello Maria Lagostina Maria Lagostina Sara Massucco Sara Massucco Lucio Marinelli Lucio Marinelli Marina Grandis Marina Grandis Carlo Trompetto Carlo Trompetto Angelo Schenone Angelo Schenone |
| author_sort | Laura Mori |
| collection | DOAJ |
| description | Charcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is of primary importance. Often these patients present subclinical disorders or report difficulties in manipulating objects, with little evidence in the most used outcome measures. We aim to investigate the impact of hand impairment in the perceived QoL of CMT persons and secondly whether the Disability of Arm, Shoulder and Hand (DASH) scale can be useful in assessing upper limb abilities in CMT. We recruited 23 patients with confirmed genetic diagnosis of CMT. We performed a clinical evaluation with Sollerman Hand Function Test (SHFT), Thumb Opposition Test (TOT) and CMT examination score (CMTES). We completed the clinical assessment with DASH scale and the Short form 36 (SF36) questionnaire for a subjective evaluation of upper limb disability and quality of life. All patients also underwent an instrumental evaluation with a hand-held dynamometer measuring hand grip and tripod pinch and a sensor-engineered glove test (SEGT) to evaluate finger opposition movements in a quantitative spatial-temporal way. As expected, we found significant differences between CMT and control group performances in both clinical and instrumental assessment. Concerning QoL, we found that total score of SF36 and the SF36 Physical Composite Score (PCS) correlate with all clinical and instrumental Outcome Measures (OMs), particularly with Tripod pinch strength and TOT, which are considered major determinants of manual dexterity in CMT. DASH scale correlates with most clinical and instrumental OMs. Not surprisingly, we also found a correlation with DASH work, because CMT affects young patients engaged in work activities. However, we found a low correlation with the TOT and the dynamometer suggesting that DASH may not be the best scale for remote monitoring of upper limb disorders in CMT patients. Nevertheless, the results of our study confirm the usefulness of SF36 in recognizing the impact of upper limb disability in these subjects suggesting its use even in the remote monitoring of physical functioning. |
| first_indexed | 2024-04-12T01:38:44Z |
| format | Article |
| id | doaj.art-8d0e1413f2474d019e9d6dd6ff8262fa |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-12T01:38:44Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-8d0e1413f2474d019e9d6dd6ff8262fa2022-12-22T03:53:15ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-10-011310.3389/fneur.2022.964254964254Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot studyLaura Mori0Laura Mori1Cristina Schenone2Cristina Schenone3Filippo Cotellessa4Filippo Cotellessa5Marta Ponzano6Alessia Aiello7Maria Lagostina8Maria Lagostina9Sara Massucco10Sara Massucco11Lucio Marinelli12Lucio Marinelli13Marina Grandis14Marina Grandis15Carlo Trompetto16Carlo Trompetto17Angelo Schenone18Angelo Schenone19Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, ItalyUOC Medicina Fisica e Riabilitazione, Istituto Gianna Gaslini, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyDepartment of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale Policlinico San Martino, Genoa, ItalyCharcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is of primary importance. Often these patients present subclinical disorders or report difficulties in manipulating objects, with little evidence in the most used outcome measures. We aim to investigate the impact of hand impairment in the perceived QoL of CMT persons and secondly whether the Disability of Arm, Shoulder and Hand (DASH) scale can be useful in assessing upper limb abilities in CMT. We recruited 23 patients with confirmed genetic diagnosis of CMT. We performed a clinical evaluation with Sollerman Hand Function Test (SHFT), Thumb Opposition Test (TOT) and CMT examination score (CMTES). We completed the clinical assessment with DASH scale and the Short form 36 (SF36) questionnaire for a subjective evaluation of upper limb disability and quality of life. All patients also underwent an instrumental evaluation with a hand-held dynamometer measuring hand grip and tripod pinch and a sensor-engineered glove test (SEGT) to evaluate finger opposition movements in a quantitative spatial-temporal way. As expected, we found significant differences between CMT and control group performances in both clinical and instrumental assessment. Concerning QoL, we found that total score of SF36 and the SF36 Physical Composite Score (PCS) correlate with all clinical and instrumental Outcome Measures (OMs), particularly with Tripod pinch strength and TOT, which are considered major determinants of manual dexterity in CMT. DASH scale correlates with most clinical and instrumental OMs. Not surprisingly, we also found a correlation with DASH work, because CMT affects young patients engaged in work activities. However, we found a low correlation with the TOT and the dynamometer suggesting that DASH may not be the best scale for remote monitoring of upper limb disorders in CMT patients. Nevertheless, the results of our study confirm the usefulness of SF36 in recognizing the impact of upper limb disability in these subjects suggesting its use even in the remote monitoring of physical functioning.https://www.frontiersin.org/articles/10.3389/fneur.2022.964254/fullCharcot-Marie-Tooth diseasehand functiondisabilityoutcome measuresquality of life |
| spellingShingle | Laura Mori Laura Mori Cristina Schenone Cristina Schenone Filippo Cotellessa Filippo Cotellessa Marta Ponzano Alessia Aiello Maria Lagostina Maria Lagostina Sara Massucco Sara Massucco Lucio Marinelli Lucio Marinelli Marina Grandis Marina Grandis Carlo Trompetto Carlo Trompetto Angelo Schenone Angelo Schenone Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study Frontiers in Neurology Charcot-Marie-Tooth disease hand function disability outcome measures quality of life |
| title | Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study |
| title_full | Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study |
| title_fullStr | Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study |
| title_full_unstemmed | Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study |
| title_short | Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study |
| title_sort | quality of life and upper limb disability in charcot marie tooth disease a pilot study |
| topic | Charcot-Marie-Tooth disease hand function disability outcome measures quality of life |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.964254/full |
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