Severe Fatigue and Reduced Quality of Life in Children With Hereditary Motor and Sensory Neuropathy 1A

Jagersma, Elbrich; Jeukens-Visser, Martine; Paassen, Barbara W. van; Meester-Delver, Anke; Nollet, Frans

doi:10.1177/0883073812447681

Cited by 6 publications

(5 citation statements)

References 29 publications

(69 reference statements)

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“…The type of neuropathy symptoms and severity of neuropathy are classically thought to be key players affecting QoL and have been shown previously to be associated with reduced QoL in neuropathy patients (Jagersma et al ., ) . While MH‐QoL was correlated with social support, PH‐QoL seems to depend more on disease severity, as measured objectively by the TCNS, and patient demographics (male gender associated independently with worse PH‐QoL).…”

Section: Discussionmentioning

confidence: 97%

“…It is not surprising that these symptoms can have a profound impact on a patient's daily life and social functioning. Numerous studies report that patients with polyneuropathy have a significantly reduced quality of life (QoL) compared to the general population (Padua et al, 2005;Van Acker et al, 2009) where increasing disease severity closely parallels deficits in QoL (Happich et al, 2008;Jagersma et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Association of social support with quality of life in patients with polyneuropathy

Maxwell

Barnett

Kokokyi

et al. 2013

J Peripheral Nervous Sys

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The aim of this study was to examine the impact of social support on quality of life (QoL) in patients with polyneuropathy. One hundred and fifty-four patients with polyneuropathy were enrolled from a neuromuscular clinic. The QoL Instrument and the Medical Outcome Study-Social Support Survey (MOS-SSS) were used to assess QoL and social support, respectively. Disease severity and clinical factors were also assessed. Neuropathy patients had a lower QoL compared to a previously published normative sample (p < 0.0001) and an MOS-SSS comparable to other patients with chronic disease. Social support correlated weakly with the self esteem and emotional well being mental health dimensions (r s :0.20-0.38) but not the physical health QoL (PH-QoL) domains. Physical and mental QoL also correlated significantly with presence of pain (r s : −0.39 and −0.42, respectively) and number of autonomic symptoms (r s : −0.39 and −0.30, respectively). Social support independently predicts MH-QoL when controlling for age, gender, pain, and the Toronto Clinical Neuropathy Score (TCNS; p < 0.0001). TCNS and gender are independently related to PH-QoL (p < 0.05). This study demonstrates that improved social support serves as an independent predictor of MH-QoL when controlling for age, gender, pain, and severity of neuropathy. Future studies examining the effects of improving social support on QoL in patients with polyneuropathy are recommended.

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Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Association of social support with quality of life in patients with polyneuropathy

Maxwell

Barnett

Kokokyi

et al. 2013

J Peripheral Nervous Sys

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“…Pain in CMT patients is more common than previously recognized, with 55-70% of CMT1A patients reporting pain [39,40], which is considered predominantly nociceptive. Severe fatigue is reported in 60% of adult patients [41] and is also reported in children (24%, in contrast to 14% of general school-based population) [42]. Tremor, especially of the hands, can be a feature [26-29,37].…”

Section: Pmp22 Duplication – Charcot-marie-tooth Disease Type 1a (Cmt1a)mentioning

confidence: 99%

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Paassen

Kooi

Spaendonck‐Zwarts

et al. 2014

Orphanet J Rare Dis

141

121

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PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

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“…Muldoon et al (1998) Um outro sintoma presente nas crianças com CMT e que também impacta na qualidade de vida é a fadiga, o que acaba sendo um fator limitante para realização de brincadeiras e outras atividades recreativas comuns na infância. Jagersma et al (2013) concluíram que a fadiga severa está fortemente associada a uma qualidade de vida ruim nos pacientes com CMT1A…”

Section: Qualidade De Vida Em Crianças Com Doenças Crônicasunclassified

Avaliação de qualidade de vida e problemas de comportamento de crianças e adolescentes com Charcot-Marie-Tooth

Oliveira¹

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Agradeço a Deus, a quem sempre recorri em todos os momentos e que sempre me mostrou a importância de ter fé, de acreditar e que me dá forças, entusiasmo e coragem para sempre seguir em frente. Ele que está sempre iluminando meus caminhos. Aos meus pais, Eliano e Elaine, bases da minha vida, que apesar de longe sempre estiveram comigo em todos os momentos, apoiando, encorajando, amando, batalhando para realização desse sonho, que é tão meu quanto deles. Não existe palavras para descrever o amor que sinto por vocês. Muito obrigada! Ao meu irmão Luís Fernando, simplesmente por existir, por me apoiar e me amar. Obrigada pelo abraço sincero, por me ouvir e aconselhar nos momentos de indecisão. Te amo muito! Ao meu querido companheiro Samuel, meu porto seguro, companheiro de todas as horas, exemplo de ser humano e profissional, pelo carinho diário, por caminhar comigo e apoiar meus sonhos. Obrigada por ter sempre esse abraço gostoso e o "melhor lugar do mundo" para eu repousar o meu cansaço. Obrigada pela compreensão, respeito e paciência nos momentos difíceis ao longo dessa jornada. Obrigada por estar ao meu lado sempre e por ser tão merecedor do meu amor. Ao meu orientador, Prof. Dr. Wilson Marques Júnior, obrigada acima de tudo por acreditar e confiar em mim mais que eu mesma. Por ser para mim exemplo profissional e pessoal. Agradeço por ter compartilhado comigo seu imenso conhecimento e me ensinado a não desistir diante dos obstáculos. Aos meus tios Carlos Augusto e Nerio e às minhas tias Ariane, Mariane, Josaine e Louize, pelos momentos de descontração tão importantes. Obrigada por todo o carinho, pelos abraços e pelo apoio incondicional. Vocês fazem parte de tudo isso. À minha filhinha de quatro patas Sophie, por compartilhar comigo os momentos dessa jornada, estando apenas deitada nos meus pés enquanto eu passava horas escrevendo este trabalho, mesmo sabendo que o que ela queria mesmo era que eu estivesse brincando com ela ou levando-a para passear. Obrigada pequenina, por trazer o que tem de bom em mim e desviar pra longe, todas as preocupações e pensamentos ruins. Você traz para minha vida a própria essência de felicidade, confiança e lealdade, que me torna todos os dias uma pessoa melhor. Aos meus sogros Sandra e Neylor e ao meu cunhado Vinícius por sempre me acolherem tão bem e me deixarem fazer parte de sua família. Obrigada por entenderem os momentos em que estive distante e pelo apoio quando precisei trabalhar em sua casa. À minha grande amiga Ana Paula que esteve sempre comigo, que presenciou meus medos e angustias e esteve sempre me apoiando. Obrigada por todo carinho e amizade, além de valiosas contribuições para este projeto. Com certeza essa caminhada não seria a mesma sem você. Aos amigos, colegas e aprimorandos do Serviço de Psicologia do HCFMRP-USP, pelo suporte e incentivo na convivência diária. Aos Profs. Dra. Valeria Elui e Dr. Ricardo Gorayeb por me ajudarem a tornar possível essa dissertação, pelas discussões e contribuições que muito acrescentaram no meu aprofundamento teórico. Aos meus ex-p...

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Severe Fatigue and Reduced Quality of Life in Children With Hereditary Motor and Sensory Neuropathy 1A

Cited by 6 publications

References 29 publications

Association of social support with quality of life in patients with polyneuropathy

Association of social support with quality of life in patients with polyneuropathy

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Avaliação de qualidade de vida e problemas de comportamento de crianças e adolescentes com Charcot-Marie-Tooth

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