The Anxiety Level of Caregivers of Neurological Patients with Dysphagia.

We aimed to investigate anxiety level of caregivers of neurological patients with dysphagia, and the relationship of patient-related factors to anxiety level of dysphagia caregivers. A total of 103 adult neurological patients with dysphagia (study group), 30 without dysphagia (control group), and their primary caregivers were included. Types of feeding, condition of dependency in eating and drinking, dysphagia duration, and history of previous dysphagia treatment were recorded for study group. In study group, the Turkish version of the Eating Assessment Tool-10 (T-EAT-10) was used to determine dysphagia symptom severity. Penetration and aspiration severity was determined with the penetration-aspiration scale (PAS). The Spielberger State-Trait Anxiety Inventory (STAI) that has two subscales including state anxiety (S-STAI) and trait anxiety (T-STAI) was used to determine anxiety level of caregivers. There was no difference between groups in terms of age, gender, weight, and height. The mean S-STAI was 42.56 ± 10.10 for the study group and 29.20 ± 6.64 for the control group (p < 0.001). The mean T-STAI was 44.81 ± 8.98 for the study group and 29.37 ± 6.46 for the control group (p < 0.001). Significant correlation was detected between only T-STAI and history of previous dysphagia treatment (p = 0.01, r = 0.25). No correlation was found between STAI (in terms of both S-STAI and T-STAI) and T-EAT-10, PAS, types of feeding, condition of dependency in eating and drinking, dysphagia duration (p > 0.05). Caregivers of neurological patients with dysphagia have greater anxiety level than caregivers of neurological patients without dysphagia.

Reliability and Validity of the Turkish Eating Assessment Tool (T-EAT-10).

The purpose of this study was to test the reliability and validity of the Turkish Eating Assessment Tool (T-EAT-10) among patients with swallowing disorders. One hundred and five patients completed the T-EAT-10 and Functional Oral Intake Scale (FOIS). The internal consistency, test-retest reliability, and criterion validity of T-EAT-10 were investigated. The internal consistency was assessed using Cronbach's alpha. Intraclass correlation coefficient (ICC) value with 95 % confidence intervals was calculated for test-retest reliability. The criterion validity of the T-EAT-10 was determined by assessing the correlation between T-EAT-10 and FOIS. All the patients in the study completed the T-EAT-10 without assistance. The mean time to complete the instrument was 1.8 ± 0.9 min. The internal consistency of the T-EAT-10 was found to be high with 0.90 Cronbach's alpha for test and 0.91 Cronbach's alpha for retest reproducibility. No difference between the test and retest scores of the T-EAT-10 was found (p = 0.14). A negative, moderate correlation between T-EAT-10 and FOIS was detected (r = -0.365, p < 0.001). The T-EAT-10 is a reliable and valid symptom-specific outcome tool for dysphagia in adult Turkish patients. It can be used in clinical practice and research.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. METHODS: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. RESULTS: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. CONCLUSIONS: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field.