Living with myotonic dystrophy; what can be learned from couples? a qualitative study

Contains fulltext : 96062.pdf (publisher's version ) (Open Access)BACKGROUND: Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together. To better match health care to their problems, concerns and needs, it is important to understand their perspective of living with this hereditary, systemic disease. METHODS: A qualitative study was carried out with a purposive sample of five middle-aged couples, including three men and two women with MD1 and their partners. Fifteen in-depth interviews with persons with MD1, with their partners and with both of them as a couple took place in the homes of the couples in two cities and three villages in the Netherlands in 2009. Results : People with MD1 associate this progressive, neuromuscular condition with decreasing abilities, describing physical, cognitive and psychosocial barriers to everyday activities and social participation. Partners highlighted the increasing care giving burden, giving directions and using reminders to compensate for the lack of initiative and avoidant behaviour due to MD1. Couples portrayed the dilemmas and frustrations of renegotiating roles and responsibilities; stressing the importance of achieving a balance between individual and shared activities. All participants experienced a lack of understanding from relatives, friends, and society, including health care, leading to withdrawal and isolation. Health care was perceived as fragmentary, with specialists focusing on specific aspects of the disease rather than seeking to understand the implications of the systemic disorder on daily life. CONCLUSIONS: Learning from these couples has resulted in recommendations that challenge the tendency to treat MD1 as a condition with primarily physical impairments. It is vital to listen to couples, to elicit the impact of MD1, as a multisystem disorder that influences every aspect of their life together. Couple management, supporting the self-management skills of both partners is proposed as a way of reducing the mismatch between health services and health needs

A Comparative Study Among Constraint, Robot-Aided and Standard Therapies in Upper Limb Rehabilitation of Children with Acquired Brain Injury

The functional recovery of upper limbs is one of the goals of the rehabilitation of children affected by Acquired Brain Injury. Sensorimotor stimulation exercises, particularly the Constraint-Induced Movement Therapy (CIMT) and robot-aided therapy are promising in children. However, exhaustive data about their effectiveness in the clinical practice and differences of these treatments still lack in the literature. Therefore, the aim of this study is to perform a preliminary comparative evaluation among CIMT, robot-aided therapy with Armeo®Spring and conventional physiokinesitherapy about their efficacy in upper limb rehabilitation of children after ABI. A group of 10 children was treated with two of the three abovementioned therapies, randomly chosen in the order. The evaluation included clinical and functional scales as well as 3D kinematics to objectively measure the outcome. Our results showed improvements at the elbow and shoulder after CIMT and ARMEO, whereas physiokinesitherapy frequently showed changes in the opposite direction. Further, many improvements in terms of trunk rotation and joints selectivity were conveyed by the robot-aided therapy. Future studies will be aimed at increasing the sample size and thus generalizing these results

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

Purpose: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. Literature regarding prevalence rates of dysarthria and dysphagia is scarce. The purpose of this study was to determine prevalence rates, severity and co-presence of dysarthria and dysphagia in adult patients with NMD. Method: Two groups of adult patients with NMD were included: 102 consecutive outpatients (the "unselected cohort") and 118 consecutive patients who were referred for multidisciplinary assessment (the "selected cohort"). An experienced speech-language pathologist examined each patient in detail. Results: The pooled prevalence of dysarthria was 46% (95% CI: 36.5-55.9) and 62% (95% CI: 53.3-70.8) in the unselected and selected cohorts, respectively. The pooled prevalence of dysphagia was 36% (95% CI: 27.1-45.7) and 58% (95% CI: 49.4-67.2) in the unselected and selected cohorts, respectively. There was a modest but significant association between the presence of dysarthria and dysphagia (r(s) 0.40; p <0.01). Although the dysphagia was generally mild, dysarthria was moderate to severe in 15% of the dysarthric patients. Conclusion: The prevalence rates of dysarthria and dysphagia among patients with various types of NMD are high. Physicians should therefore be aware of this prevalence and consider referring NMD patients to a speech-language pathologist

Predicting hand motor recovery in severe stroke: the role of motor evoked potentials in relation to early clinical assessment.

Contains fulltext : 81931.pdf (publisher's version ) (Closed access)OBJECTIVE: The primary aim of this study was to compare the predictive value of motor evoked potentials (MEPs) and early clinical assessment with regard to long-term hand motor recovery in patients with profound hemiplegia after stroke. METHODS: The sample was an inception cohort of 39 stroke patients with an acute, ischemic, supratentorial stroke and an initial upper-extremity paralysis admitted to an academic hospital. Hand motor function recovery was defined at 26 weeks poststroke as a Fugl-Meyer Motor Assessment (FMA) hand score>3 points. The following prognostic factors were compared at week 1 and week 3 poststroke: motor functions as assessed by the FMA upper-extremity and lower-extremity subscores, and the presence of an MEP in the abductor digiti minimi and biceps brachii muscle. RESULTS: Both the presence of an abductor digiti minimi-MEP and any motor recovery in the FMA upper-extremity subscore showed a positive predictive value of 1.00 at weeks 1 and 3. The FMA lower-extremity subscore showed the best negative predictive value (0.90; 95% CI 0.78-1.00 at week 1 and 0.95; 95% CI 0.87-1.00 at week 3). CONCLUSIONS: In stroke patients with an initial paralysis of the upper extremity the presence or absence of an MEP has similar predictive value compared with early clinical assessment with regard to long-term hand motor recovery

Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study.

The objective of this study is to determine if quality of care, symptoms of depression, disease characteristics and quality of life of patients with amyotrophic lateral sclerosis (ALS) are related to requesting euthanasia or physician-assisted suicide (EAS) and dying due to EAS. Therefore, 102 ALS patients filled out structured questionnaires every 3 months until death and the results were correlated with EAS. Thirty-one percent of the patients requested EAS, 69 % of whom eventually died as a result of EAS (22 % of all patients). Ten percent died during continuous deep sedation; only one of them had explicitly requested death to be hastened. Of the patients who requested EAS, 86 % considered the health care to be good or excellent, 16 % felt depressed, 45 % experienced loss of dignity and 42 % feared choking. These percentages do not differ from the number of patients who did not explicitly request EAS. The frequency of consultations of professional caregivers and availability of appliances was similar in both groups. Our findings do not support continuous deep sedation being used as a substitute for EAS. In this prospective study, no evidence was found for a relation between EAS and the quality and quantity of care received, quality of life and symptoms of depression in patients with ALS. Our study does not support the notion that unmet palliative care needs are related to EAS

Should anterior pituitary function be tested during follow-up of all patients presenting at the emergency department because of traumatic brain injury?

Contains fulltext : 89243.pdf (publisher's version ) (Open Access)CONTEXT: A wide range (15-56%) of prevalences of anterior pituitary insufficiency are reported in patients after traumatic brain injury (TBI). However, different study populations, study designs, and diagnostic procedures were used. No data are available on emergency-department-based cohorts of TBI patients. OBJECTIVE: To assess the prevalence of pituitary dysfunction in an emergency-department-based cohort of TBI patients using strict endocrinological diagnostic criteria. METHODS: Of all the patients presenting in the emergency department with TBI over a 2-year period, 516 matched the inclusion criteria. One hundred and seven patients (77 with mild TBI and 30 with moderate/severe TBI) agreed to participate. They were screened for anterior pituitary insufficiency by GHRH-arginine testing, evaluation of fasting morning hormone levels (cortisol, TSH, free thyroxine, FSH, LH, and 17beta-estradiol or testosterone), and menstrual history 3-30 months after TBI. Abnormal screening results were defined as low peak GH to GHRH-arginine, or low levels of any of the end-organ hormones with low or normal pituitary hormone levels. Patients with abnormal screening results were extensively evaluated, including additional hormone provocation tests (insulin tolerance test, ACTH stimulation test, and repeated GHRH-arginine test) and assessment of free testosterone levels. RESULTS: Screening results were abnormal in 15 of 107 patients. In a subsequent extensive endocrine evaluation, anterior pituitary dysfunction was diagnosed in only one patient (partial hypocortisolism). CONCLUSION: By applying strict diagnostic criteria to an emergency-department-based cohort of TBI patients, it was shown that anterior pituitary dysfunction is rare (<1%). Routine pituitary screening in unselected patients after TBI is unlikely to be cost-effective.1 januari 201