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      Charcot–Marie–Tooth disease, psychiatric indicators and quality of life: a systematic review

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          Abstract

          This study is aimed to conduct a systematic literature review regarding the associations between psychiatric symptoms, functional impairments, and quality of life in patients with CMT (Charcot–Marie–Tooth). The PUBMED, PsycInfo, SCIELO, and LILACS electronic databases were used, and the following search terms were employed: CMT, HMSN (hereditary motor and sensory neuropathy), mental disorder, quality of life, psychiatry, psychiatric, and psychological without the use of time-limit filters. According to the adopted inclusion criteria, 20 studies were included and appraised. These studies indicated that patients with CMT exhibited an increased trend toward depressive symptoms compared with the general population. In addition, CMT patients were exposed to a higher risk of reduced quality of life and significant sleep impairment. Considering the comorbidity of CMT with other psychiatric disorders, the heterogeneity of the instruments used to evaluate the psychiatric symptoms compromised the ability to compare the studies examined. Our results indicate a need for a systematic evaluation of these conditions to minimize the impairments and decreased quality of life caused by CMT.

          Abstract

          Patients with CMT exhibited an increased trend toward depressive symptoms compared with the general population. In addition, CMT patients were exposed to a higher risk of reduced quality of life and significant sleep impairment.

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          Activity, participation, and quality of life 6 months poststroke.

          Robert Côté, Sharon Wood-Dauphinee, N Mayo … (2002)
          To estimate the extent of activity and participation of individuals 6 months poststroke and their influence on health-related quality of life (QOL) and overall QOL, information that would be useful in identifying services that stroke patients would need in the community. Inception cohort study. Ten acute care hospitals in metropolitan areas of the province of Quebec. Persons with first-ever stroke, either ischemic or hemorrhagic. In parallel, a population-based sample of community-dwelling individuals without stroke, frequency matched in age and city district, were also recruited. Not applicable. Stroke subjects were interviewed by telephone at 6-month intervals for 2 years of follow-up. The community-dwelling individuals without stroke were also followed. A total of 434 persons were interviewed approximately 6 months poststroke. Their average age +/- standard deviation was 68.4+/-12.5 years; the average age of the 486 controls was 61.7+/-12.4 years. The stroke group scored on average 90.6/100 on the Barthel Index; 39% reported a limitation in functional activities, 54% reported limitations with higher-level activities of daily living such as housework and shopping, and 65% reported restrictions in reintegration into community activities. By using the Medical Outcomes 36-Item Short-Form Health Survey (SF-36), persons with stroke rated their physical health 7 points lower than healthy peers; also, 7 of the 8 subscales of the SF-36 were affected by stroke. Almost 50% of the community-dwelling stroke population lived with sequelae of stroke such that, unless there was a full-time and able-bodied caregiver at home, they needed some form of home help. A large proportion also reported lack of meaningful activity, indicating a need for organized support groups for people with stroke; otherwise, boredom will lead to depression and worsening of function, affect, health status, and QOL. Copyright 2002 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation
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            Charcot-Marie-Tooth disease subtypes and genetic testing strategies.

            W Sottile, Shawna Feely, Carly Siskind … (2010)
            Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies, and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. We analyzed data from 1,024 of our patients to determine the percentage and features of each CMT subtype within this clinic population. We identified distinguishing clinical and physiological features of the subtypes that could be used to direct genetic testing for patients with CMT. Of 1,024 patients evaluated, 787 received CMT diagnoses. A total of 527 patients with CMT (67%) received a genetic subtype, while 260 did not have a mutation identified. The most common CMT subtypes were CMT1A, CMT1X, hereditary neuropathy with liability to pressure palsies (HNPP), CMT1B, and CMT2A. All other subtypes accounted for less than 1% each. Eleven patients had >1 genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. Combining features of the phenotypic and physiology groups allowed us to identify patients who were highly likely to have specific subtypes of CMT. Based on these results, we propose a strategy of focused genetic testing for CMT, illustrated in a series of flow diagrams created as testing guides. Copyright © 2010 American Neurological Association.
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              Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

              Sinead M Murphy, Katherine Fawcett, H Manji … (2012)
              Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. The genes known to cause CMT were sequenced in 1607 patients with CMT (425 patients attending an inherited neuropathy clinic and 1182 patients whose DNA was sent to the authors for genetic testing) to determine the proportion of different subtypes in a UK population. A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT). Mutations or rearrangements in PMP22, GJB1, MPZ and MFN2 accounted for over 90% of the molecular diagnoses while mutations in all other genes tested were rare. Four commonly available genes account for over 90% of all CMT molecular diagnoses; a diagnostic algorithm is proposed based on these results for use in clinical practice. Any patient with CMT without a mutation in these four genes or with an unusual phenotype should be considered for referral for an expert opinion to maximise the chance of reaching a molecular diagnosis.
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                Author and article information

                Journal
                Journal ID (nlm-ta): ASN Neuro
                Journal ID (iso-abbrev): ASN Neuro
                Journal ID (publisher-id): ASN
                Title: ASN NEURO
                Publisher: American Society for Neurochemistry (9037 Ron Den Lane, Windermere, FL 34786, U.S.A. )
                ISSN (Electronic): 1759-0914
                Publication date (Electronic preprint): 24 March 2014
                Publication date (Electronic): 27 May 2014
                Publication date Collection: 2014
                Volume: 6
                Issue: 3
                Electronic Location Identifier: e00145
                Affiliations
                *Department of Neurosciences and Behavior, Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil
                †Technology Institute (INCT, CNPq) for Translational Medicine, Avenida dos Bandeirantes 3900, CEP 14048-900, Ribeirão Preto, São Paulo, Brazil
                Author notes
                1To whom correspondence should be addressed (email: flaliosorio@ 123456ig.com.br ).
                Article
                Publisher ID: e00145
                DOI: 10.1042/AN20130048
                PMC ID: 4034707
                PubMed ID: 24654889
                SO-VID: 10cdbac1-5310-4075-aed6-64f268aefc6f
                Copyright © © 2014 The author(s) has paid for this article to be freely available under the terms of the Creative Commons Attribution Licence (CC-BY)(http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (CC-BY) ( http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 13 November 2013
                Date revision received : 3 March 2014
                Date accepted : 14 March 2014
                Page count
                Figures: 1, Tables: 3, References: 41, Pages: 8
                Categories
                Subject: Research Article
                Subject: S4
                Subject: S3

                ScienceOpen disciplines: Neurosciences
                Keywords: charcot–marie–tooth,comorbidity,hereditary motor sensory neuropathy,mental disorder,psychiatry,quality of life,cmt, charcot–marie–tooth,cmtx, x-linked cmt,fshd, facioscapulohumeral dystrophy,hmsn, hereditary motor and sensory neuropathy,md, myotonic dystrophy,ms, mental score,osas, obstructive sleep apnoea syndrome,ps, physical score,rls, restless legs syndrome
                Data availability:
                ScienceOpen disciplines: Neurosciences
                Keywords: charcot–marie–tooth, comorbidity, hereditary motor sensory neuropathy, mental disorder, psychiatry, quality of life, cmt, charcot–marie–tooth, cmtx, x-linked cmt, fshd, facioscapulohumeral dystrophy, hmsn, hereditary motor and sensory neuropathy, md, myotonic dystrophy, ms, mental score, osas, obstructive sleep apnoea syndrome, ps, physical score, rls, restless legs syndrome

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