Health-related quality of life and supportive care in patients with rare long-term neurological conditions

Calvert, Melanie; Pall, Hardev; Hoppitt, Thomas; Eaton, Benjamin; Savill, Edward; Sackley, Catherine

doi:10.1007/s11136-012-0269-5

Cited by 55 publications

(72 citation statements)

References 15 publications

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“…No differences were noted between men and women or between CMT types [38]. HRQoL in persons with CMT appears to correlate with limb weakness and degree of pain, suggesting that clinical trials targeting weakness and pain may be the most efficacious way to improve HRQoL in patients with CMT [42,43]. These studies reinforce the need to assess QoL in persons with CMT, using any number of newly developed clinical end points.…”

Section: Quality Of Life In Persons With Cmtmentioning

confidence: 76%

Charcot‐Marie‐Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies

El-Abassi

England

Carter³

2014

PM&R

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Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuromuscular disorders. Our understanding of the molecular genotypes of CMT and the resultant clinical and electrophysiological phenotypes has increased greatly in the past decade. Characterized by electrodiagnostic studies into demyelinating (type 1) and axonal (type 2) forms, subsequent genetic testing often provides an exact diagnosis of a specific subtype of CMT. These advancements have made diagnostic paradigms fairly straightforward. Still, the nature and extent of neuromuscular disability is often complex in persons with CMT, and no curative treatments are yet available. Genotypically homologous animal models of CMT have improved exploration of disease-modifying treatments, of which molecular genetic manipulation and stem cell therapies appear to be the most promising. Research is also needed to develop better rehabilitative strategies that may limit disease burden and improve physical performance and psychosocial integration. Clinical management should be multidisciplinary, including neurologists, physiatrists, neurogeneticists, neuromuscular nurse practitioners, and orthopedists, along with physical and occupational therapists, speech-language pathologists, orthotists, vocational counselors, social workers, and other rehabilitation clinicians. Goals should include maximizing functional independence and quality of life while minimizing disability and secondary morbidity.

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Section: Quality Of Life In Persons With Cmtmentioning

confidence: 76%

Charcot‐Marie‐Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies

El-Abassi

England

Carter³

2014

PM&R

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“…Among the quantitative studies, two referred to themselves as descriptive (Gemignani et al, 1999; Padua et al, 2008a), while the remaining studies employed comparisons among groups (Rubinsztein et al, 1998; Dematteis et al, 2001; Pfeiffer et al, 2001; Teunissen et al, 2003; Vinci et al, 2005; Padua et al, 2006, 2008b, 2008c; Kalkman et al, 2007; Dziewas et al, 2008; Redmond et al, 2008; Hattan et al, 2009; Phillips et al, 2009; Vinci et al, 2009; Boenterd et al, 2010; Calvert et al, 2012; Boentert et al, 2014). …”

Section: Resultsmentioning

confidence: 99%

“…Considering the specific aims of the evaluated studies, it was possible to divide them into two groups, as follows: (a) studies investigating the comorbidity of psychiatric disorders in patients with CMT (Rubinsztein et al, 1998; Gemignani et al, 1999; Dematteis et al, 2001; Pfeiffer et al, 2001; Arnold et al, 2005; Padua et al, 2006, 2008a; Kalkman et al, 2007; Dziewas et al, 2008; Hattan et al, 2009; Phillips et al, 2009; Vinci et al, 2009; Boenterd et al, 2010) and (b) studies evaluating the impact of the CMT symptoms on the quality of life (Teunissen et al, 2003; Arnold et al, 2005; Vinci et al, 2005; Padua et al, 2006, 2008a, 2008b, 2008c; Redmond et al, 2008; Boenterd et al, 2010; Calvert et al, 2012; Boentert et al, 2014), resulting in the current clinical presentation.…”

Section: Resultsmentioning

confidence: 99%

“…Previous studies have documented that chronic disease has a negative impact on quality of life of CMT patients, both in physical and mental domains (Teunissen et al, 2003; Arnold et al, 2005; Vinci et al, 2005; Padua et al, 2006, 2008a, 2008b, 2008c; Redmond et al, 2008; Boenterd et al, 2010; Calvert et al, 2012). …”

Section: Cmt: Quality Of Life and Psychiatric Comorbiditiesmentioning

confidence: 99%

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Charcot-Marie-Tooth Disease, Psychiatric Indicators and Quality of Life: A Systematic Review

et al. 2014

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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.

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“…A number of studies of the influence of CMT on QoL have been published in the past several years; however, they have been either in small numbers of patients, with non-validated instruments, and/or specific to non-US locations, which reduce their generalizability to US populations 27, 32– 34 . These studies have employed generic QoL instruments, such as the EQ-5D 32, 35 , SF-36 33, 34, 36 , the Child Health Questionnaire 37, 38 , and qualitative interviews using a semi-structured approach and open-ended questions 27 . Moreover, different evaluations have produced opposing results.…”

Section: Introductionmentioning

confidence: 99%

Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy

et al. 2014

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Health-related quality of life and supportive care in patients with rare long-term neurological conditions

Abstract: Rare long-term neurological conditions have a significant impact on HRQL. Many patients with rLTNCs do not seem to be accessing the level of health and social care services that could improve their HRQL.

Cited by 55 publications

References 15 publications

Charcot‐Marie‐Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies

Charcot‐Marie‐Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies

Charcot-Marie-Tooth Disease, Psychiatric Indicators and Quality of Life: A Systematic Review

Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy

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