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1.
Am J Med Genet C Semin Med Genet ; 187(4): 453-457, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34741798

RESUMO

There has been increasing recognition in recent years of the prevalence and impact of symptoms which extend beyond the musculoskeletal system on the lives of people with hypermobility-related disorders. This has led researchers to develop more comprehensive assessment tools to help direct and monitor treatment. This article presents some of the latest assessment and diagnostic developments and their implications for practice from a physical therapy perspective.


Assuntos
Síndrome de Ehlers-Danlos , Instabilidade Articular , Bases de Dados Genéticas , Humanos , Instabilidade Articular/diagnóstico , Modalidades de Fisioterapia , Prevalência
2.
Disabil Rehabil ; 41(4): 445-455, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29125009

RESUMO

PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. RESULTS: 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38-5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication - knowledge, experience and safety. CONCLUSION: Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.


Assuntos
Cultura , Síndrome de Ehlers-Danlos , Exercício Físico , Modalidades de Fisioterapia/psicologia , Adulto , Atitude Frente a Saúde , Estudos Transversais , Síndrome de Ehlers-Danlos/fisiopatologia , Síndrome de Ehlers-Danlos/psicologia , Síndrome de Ehlers-Danlos/reabilitação , Exercício Físico/fisiologia , Exercício Físico/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Preferência do Paciente , Inquéritos e Questionários
3.
Am J Med Genet C Semin Med Genet ; 175(1): 158-167, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28306230

RESUMO

New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS. Due to the complexity of the symptoms in the profile of JHS/hEDS, the International Classification of Functioning, Disability and Health (ICF) is adopted as a central framework whereby the umbrella term of disability is used to encompass functions, activities and participation, as well as environmental and personal factors. The current evidence-based literature regarding the management of JHS/hEDS is limited in size and quality and there is insufficient research exploring the clinical outcomes of a number of interventions. Multicenter randomized controlled trials are warranted to assess the clinical and cost-effectiveness of interventions for children and adults. Until further multicenter trials are conducted, clinical decision-making should be based on theoretical and the current limited research evidence. For all individuals diagnosed with JHS/hEDS, international consensus and combined efforts to identify risk profiles would create a better understanding of the pathological mechanisms and the potential for optimizing health care for affected individuals. © 2017 Wiley Periodicals, Inc.


Assuntos
Síndrome de Ehlers-Danlos/terapia , Instabilidade Articular/terapia , Modalidades de Fisioterapia , Adolescente , Adulto , Criança , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/reabilitação , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/reabilitação , Guias de Prática Clínica como Assunto
4.
Fam Pract ; 32(3): 354-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25911504

RESUMO

BACKGROUND: Musculoskeletal problems are common reasons for seeking primary health care. It has been suggested that many people with 'everyday' non-inflammatory musculoskeletal problems may have undiagnosed joint hypermobility syndrome (JHS), a complex multi-systemic condition. JHS is characterized by joint laxity, pain, fatigue and a wide range of other symptoms. Physiotherapy is usually the preferred treatment option for JHS, although diagnosis can be difficult. The lived experience of those with JHS requires investigation. OBJECTIVE: The aim of the study was to examine patients' lived experience of JHS, their views and experiences of JHS diagnosis and management. METHODS: Focus groups in four locations in the UK were convened, involving 25 participants with a prior diagnosis of JHS. The focus groups were audio recorded, fully transcribed and analysed using the constant comparative method to inductively derive a thematic account of the data. RESULTS: Pain, fatigue, proprioception difficulties and repeated cycles of injury were among the most challenging features of living with JHS. Participants perceived a lack of awareness of JHS from health professionals and more widely in society and described how diagnosis and access to appropriate health-care services was often slow and convoluted. Education for patients and health professionals was considered to be essential. CONCLUSIONS: Timely diagnosis, raising awareness and access to health professionals who understand JHS may be particularly instrumental in helping to ameliorate symptoms and help patients to self-manage their condition. Physiotherapists and other health professionals should receive training to provide biopsychosocial support for people with this condition.


Assuntos
Síndrome de Ehlers-Danlos/fisiopatologia , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde/educação , Acessibilidade aos Serviços de Saúde , Instabilidade Articular/congênito , Adolescente , Adulto , Síndrome de Ehlers-Danlos/classificação , Síndrome de Ehlers-Danlos/psicologia , Fadiga/etiologia , Feminino , Grupos Focais , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/fisiopatologia , Instabilidade Articular/psicologia , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Modalidades de Fisioterapia , Propriocepção , Pesquisa Qualitativa , Autocuidado , Perfil de Impacto da Doença , Fatores Socioeconômicos , Reino Unido , Adulto Jovem
5.
Phys Ther Sport ; 16(2): 127-34, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25443229

RESUMO

OBJECTIVES: To ascertain the prevalence of General Joint Hypermobility (GJH) and Joint Hypermobility Syndrome (JHS) in elite level netballers. To investigate whether GJH influences functional movement control and explore whether symptoms of dysautonomia are reported in this population. DESIGN: Observational within-subject cross-sectional design. SETTING: Field based study. PARTICIPANTS: 27 elite level netballers (14-26 years). MAIN OUTCOME MEASURES: GJH and JHS were assessed using the Beighton scale, 5 point questionnaire and the Brighton Criteria. Functional movement control was measured using posturography on a force platform and the Star Excursion Balance Test (SEBT). RESULTS: The prevalence of GJH was 63% (n = 17) (Beighton score ≥4/9) and JHS was 15% (n = 4). Symptoms of dysautonomia were minimally prevalent. A trend was observed in which participants with GJH demonstrated increased postural instability on the functional tests. Following Bonferroni adjustment, this was statistically significant only when comparing posturographic data between the distinctly hypermobile participants and the rest of the group for path area (p = 0.002) and velocity (p = 0.002) on the left side. CONCLUSIONS: A high prevalence of GJH was observed. A trend towards impairment of functional movement control was observed in the netballers with GJH. This observation did not reach statistical significance except for posturographic path area and velocity.


Assuntos
Atletas , Instabilidade Articular/epidemiologia , Instabilidade Articular/fisiopatologia , Esportes , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Equilíbrio Postural/fisiologia , Prevalência , Amplitude de Movimento Articular/fisiologia , Inquéritos e Questionários , Adulto Jovem
6.
Musculoskeletal Care ; 9(1): 1-10, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20645294

RESUMO

BACKGROUND AND OBJECTIVES: Joint hypermobility syndrome (JHS) is an inherited disorder of connective tissue. It presents as a condition in which there are neuromusculoskeletal signs and symptoms, including pain, without the inflammatory component of a joint disease such as rheumatoid arthritis. Re-attendance in rheumatology clinics, re-injury and prolonged rehabilitation are also features of JHS. The primary aims of this study were to establish the prevalence of hypermobility and JHS in those attending physiotherapy clinics with neuromusculoskeletal disorders in Oman. METHODS: A cross-sectional case control study design was used. The participant population included Omani women, aged 18-50 years, attending physiotherapy services for musculoskeletal complaints. The comparison population comprised women of a similar age and ethnic origin who were staff at the hospital. The primary outcome measures were the Beighton Score and the Brighton Criteria. RESULTS: A total of 184 subjects were recruited into the study. These consisted of 94 in the participant group and 90 in the comparison group. Hypermobility was recorded in 51% of the participant group and 30% of the comparison group. The number of participants with JHS was 55%, while 21% of the comparison group exhibited features of the JHS phenotype without pain. A significant number of participants with JHS were re-attending for treatment compared with those without JHS. CONCLUSIONS: This study confirms a high prevalence of JHS among subjects with musculoskeletal signs and symptoms and that re-attendance for physiotherapy treatment is more frequent in subjects with JHS than in those without.


Assuntos
Instabilidade Articular/epidemiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Instabilidade Articular/fisiopatologia , Instabilidade Articular/reabilitação , Articulações/fisiopatologia , Pessoa de Meia-Idade , Omã/epidemiologia , Modalidades de Fisioterapia , Prevalência , Índice de Gravidade de Doença , Síndrome , Adulto Jovem
7.
Phys Ther Sport ; 10(3): 91-6, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19616177

RESUMO

OBJECTIVES: To determine if joint hypermobility is a risk factor for injury in a professional football squad. Primary objectives were to estimate the prevalence of hypermobility amongst a professional football squad and to undertake an audit of injuries sustained over a season. Secondary objectives were to relate the injury audit findings and hypermobility levels to time missed through injury, assessed by training days and competitive first team games missed after musculo-skeletal injury. HYPOTHESIS: Increasing levels of joint hypermobility may result in an increased risk of injury in a contact sport such as professional football. DESIGN: A prospective observational study consisting of the Beighton joint hypermobility screen and an injury audit (season 2007/8). SETTING: A second tier, English professional football club. PARTICIPANTS: Thirty-three male professional footballers aged 18-35 years. MAIN OUTCOME MEASURES: The Beighton joint hypermobility screen and a seasonal injury audit. RESULTS: The prevalence of joint hypermobility was found to be between 21 and 42% depending on the cut-off score used for the Beighton scale. Similar injury rates were found in both the hypermobile and non-hypermobile participants (6.2 as compared to 6.3 injuries/1000 h exposure respectively). Once injured, the hypermobile group showed a tendency towards missing more competitive first team games (12 as compared to 5/season in non-hypermobiles) and training days (71 as compared to 31 days/season in non-hypermobiles). These findings were not statistically significant. CONCLUSIONS: The prevalence of joint hypermobility in a cohort of professional footballers is comparable to previous studies in athletic populations and is dependent upon which Beighton cut-off score is selected. It may be inferred from this preliminary study that the return to play timescales in hypermobile individuals may be extended so as to minimise the potential risk of re-injury and limit the socioeconomic costs associated with time out of competition.


Assuntos
Traumatismos em Atletas/reabilitação , Instabilidade Articular/reabilitação , Doenças Musculoesqueléticas/reabilitação , Futebol/lesões , Adolescente , Adulto , Traumatismos em Atletas/epidemiologia , Humanos , Instabilidade Articular/epidemiologia , Masculino , Doenças Musculoesqueléticas/epidemiologia , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Inquéritos e Questionários , Reino Unido/epidemiologia , Adulto Jovem
8.
Man Ther ; 13(2): e1-11, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18221908

RESUMO

Joint hypermobility syndrome (JHS) is a largely under-recognised and poorly understood multi-systemic hereditary connective tissue disorder which manifests in a variety of different clinical presentations. The assessment and management of patients with the syndrome is often complicated, requiring a comprehensive patient-centred approach and co-ordinated input from a range of medical, health and fitness professionals. The functional rehabilitation process is frequently lengthy, with education of the patient and family, sensitively prescribed and monitored physical therapy interventions and facilitation of lifestyle and behaviour modifications being the mainstay of the plan. Two typical but very different case studies are presented, each illustrating key aspects of the assessment and highlighting the variety of management strategies and techniques required by therapists to facilitate successful outcomes.


Assuntos
Instabilidade Articular/diagnóstico , Instabilidade Articular/reabilitação , Modalidades de Fisioterapia , Adolescente , Adulto , Artralgia/etiologia , Artralgia/reabilitação , Feminino , Humanos , Instabilidade Articular/complicações , Dor Lombar/etiologia , Dor Lombar/reabilitação , Masculino , Manipulações Musculoesqueléticas/métodos , Síndrome
9.
Man Ther ; 12(4): 298-309, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17643337

RESUMO

Hypermobile joints by definition display a range of movement that is considered excessive, taking into consideration the age, gender and ethnic background of the individual. Joint hypermobility, when associated with symptoms is termed the joint hypermobility syndrome or hypermobility syndrome (JHS). JHS is an under recognised and poorly managed multi-systemic, hereditary connective tissue disorder, often resulting in a great deal of pain and suffering. The condition is more prevalent in females, with symptoms frequently commencing in childhood and continuing on into adult life. This paper provides an overview of JHS and suggested clinical guidelines for both the identification and management of the condition, based on research evidence and clinical experience. The Brighton Criteria and a simple 5-point questionnaire developed by Hakim and Grahame, are both valid tools that can be used clinically and for research to identify the condition. Management of JHS frequently includes; education and lifestyle advice, behaviour modification, manual therapy, taping and bracing, electrotherapy, exercise prescription, functional rehabilitation and collaborative working with a range of medical, health and fitness professionals. Progress is often slow and hampered by physical and emotional setbacks. However with a carefully considered management strategy, amelioration of symptoms and independent functional fitness can be achieved.


Assuntos
Exercício Físico , Instabilidade Articular/fisiopatologia , Feminino , Humanos , Instabilidade Articular/genética , Instabilidade Articular/reabilitação , Masculino , Prevalência , Inquéritos e Questionários
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