Background. The COVID-19 pandemic is expected to have a substantial impact on people with an intellectual disability. The goal of the current study was to explore the experiences and needs of people ...with a mild intellectual disability during the COVID-19 lockdown period in the Netherlands.
Method. A descriptive qualitative methodology was conducted, using semi-structured individual interviews with six people with a mild intellectual disability. Data were analysed thematically.
Results. Three overarching themes were found: (i) Missing social contact and having people close; (ii) Being housebound has changed my daily life; and (iii) Hard to understand the preventive measures.
Conclusions. Important insights into the experiences and needs of people with a mild intellectual disability during the COVID-19 lockdown period were gained. These insights are valuable with respect to a potential second COVID-19 wave or a future infection-outbreak.
Mothers of young adults with profound intellectual and multiple disabilities that live at home are less likely to be on the radar of formal services. We explored the experience of these mothers over ...the course of the COVID-19 pandemic.
A qualitative study using three case studies. Transcripts were analysed using Interpretative Phenomenological Analysis.
Two overarching themes with various subthemes emerged. The first theme focuses on the impact of being a mother of a young adult with profound intellectual and multiple disabilities who lives at home during the COVID-19 pandemic. The second theme describes both the vulnerability and resilience of the broader system, as well as its need to experience togetherness.
Families of a young adult with profound intellectual and multiple disabilities exhibit both resilience and vulnerability during the COVID-19 pandemic, underscoring the importance to support and promote the visibility of these families.
Celotno besedilo
Dostopno za:
DOBA, IJS, NUK, OILJ, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
A high genetic barrier to resistance to the integrase strand transfer inhibitor (INSTI) dolutegravir has been reported in vitro and in vivo. We describe the dynamics of INSTI resistance-associated ...mutations (INSTI-RAMs) and mutations in the 3'-polypurine tract (3'-PPT) in relation to virologic failure (VF) observed in the randomized Dolutegravir as Maintenance Monotherapy for HIV-1 study (DOMONO, NCT02401828).
From 10 patients with VF, plasma samples were collected before the start of cART and during VF, and were used to generate Sanger sequences of integrase, the 5' terminal bases of the 3' long terminal repeat (LTR), and the 3'-PPT.
Median human immunodeficiency virus RNA load at VF was 3490 copies/mL (interquartile range 1440-4990 copies/mL). INSTI-RAMs (S230R, R263K, N155H, and E92Q+N155H) were detected in 4 patients, no INSTI-RAMs were detected in 4 patients, and sequencing of the integrase gene was unsuccessful in 2 patients. The time to VF ranged from 4 weeks to 72 weeks. In 1 patient, mutations developed in the highly conserved 3'-PPT. No changes in the terminal bases of the 3'-LTR were observed.
The genetic barrier to resistance is too low to justify dolutegravir maintenance monotherapy because single INSTI-RAMs are sufficient to cause VF. The large variation in time to VF suggests that stochastic reactivation of a preexisting provirus containing a single INSTI-RAM is the mechanism for failure. Changes in the 3'-PPT point to a new dolutegravir resistance mechanism in vivo.
NCT02401828.
Background
Increasing the societal participation of people with intellectual disabilities via competitive employment requires a full understanding of what this means to them. This paper aims to ...provide an in‐depth examination of the lived experiences of people with intellectual disabilities in competitive employment.
Method
Interviews were conducted with six participants with mild intellectual disability or borderline functioning and good verbal communication skills. Interviews were analysed according to the guidelines of interpretative phenomenological analysis (IPA). Member checks were conducted.
Results
Analysis yielded three main themes: (a) Building on my life experiences, (b) My place at work and (c) Being a valuable member of society, like everyone else.
Conclusions
Competitive employment could make a substantial contribution to the sense of belonging to society and quality of life of people with intellectual disabilities. Nevertheless, they must cope with stigma‐related obstacles and feelings of being dependent on others in the work environment.
Purpose
The level of participation of people with intellectual disabilities (ID) in various forms of work, including daytime activities, appears to be suboptimal. Informal networks of people with ID ...constitute crucial forms of support, as they can significantly influence occupational choices and opportunities. This review aims to synthesize existing research for the purpose of examining how informal network members perceive the meaning of employment or daytime activities for their relatives with ID.
Methods
Following the PRISMA guideline, a systematic search of scientific literature published between 1990 and July 2022 was conducted. The qualitative results from twenty-seven studies (qualitative and mixed-method) were analyzed using thematic synthesis.
Results
Four overarching themes and several subthemes were identified: (I) Ensuring customized work for my relative; (II) The ongoing need to collaborate and share care responsibilities with professionals; (III) The meaning of work for both my relative and myself; and (IV) Achieving full work participation for my relative is neither straightforward nor self-evident.
Conclusions
Informal networks place great value upon customized and sustainable work opportunities for their relatives with ID, particularly community-based work. While network members play an important role in creating these opportunities, they encounter obstacles resulting from both collaboration difficulties with professionals and employers and public and structural forms of stigma. Researchers, professionals, policy makers, and employers are encouraged to collaborate with individuals with ID as well as their networks to increase the meaningful work opportunities available to them.
Background and purpose
Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these ...studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of the present study was to investigate the full spectrum of RYR1‐related disorders throughout life and to use this knowledge to increase vigilance concerning malignant hyperthermia.
Methods
A retrospective cohort study was performed on the clinical, genetic and histopathological features of all paediatric and adult patients in whom an RYR1 mutation was detected in a national referral centre for both malignant hyperthermia and inherited myopathies (2008–2012).
Results
The cohort of 77 non‐related patients (detection rate 28%) included both congenital myopathies with permanent weakness and ‘induced’ myopathies such as MHS and non‐anaesthesia‐related episodes of rhabdomyolysis or hyperCKemia, manifested throughout life and triggered by various stimuli. Sixty‐one different mutations were detected, of which 24 were novel. Some mutations are present in both dominant (MHS) and recessive modes (congenital myopathy) of inheritance, even within families. Histopathological features included an equally wide spectrum, ranging from only subtle abnormalities to prominent cores.
Conclusions
This broad range of RYR1‐related disorders often presents to the general paediatric and adult neurologist. Its recognition is essential for genetic counselling and improving patients' safety during anaesthesia. Future research should focus on in vitro testing by the in vitro contracture test and functional characterization of the large number of RYR1 variants whose precise effects currently remain uncertain.
Lockdowns due to the Covid-19 pandemic may have had a disproportionate impact on the daily lives of people with intellectual disabilities. Many of them had to deal with limited social contacts for an ...extended period. This study explores in depth how people with intellectual disabilities in the Netherlands experienced their daily lives, in particular due to lack of access to regular work activities.
Eight participants with intellectual disabilities were interviewed. Interpretative Phenomenological Analysis (IPA) was employed in conducting and analysing interviews.
Analysis yielded three overarching themes that are conceptually linked. Participants experienced a prolonged lack of social connections that resulted in experiences of social isolation and feelings of loneliness. This led to different kinds of struggles: either internal struggles involving negative thoughts or depressive feelings, or a perceived threat to their autonomous position in society. Meanwhile participants had to sustain their sense of self-worth in the absence of work activities. The findings emphasise the importance of social opportunities through the access to work activities for people with intellectual disabilities. Interventions are suggested to help reverse the increased social inequalities and enhance rehabilitation via work activities for people with intellectual disabilities.
IMPLICATIONS FOR REHABLITATION
More awareness may be raised among authorities, employers and the general public about the significant value people with intellectual disabilities attribute to meaningful social connections, in particular through work activities.
Also, more awareness may be raised about the potential adverse effects of the loss of work activities and social connections on the quality of life of people with intellectual disabilities.
Providing social support to others may help people with intellectual disabilities to construct social valued roles, either in or outside the work situation.
Professionals and employers can support people with intellectual disabilities to find opportunities to provide social support to others.
It is important to invest in sustainable and innovative post-pandemic community participation initiatives and particularly in accessible post-pandemic employment support, for example by organising paid in-company training placements.
It is essential that professionals support people with intellectual disabilities to enhance their sources of resilience and coping strategies, that may have diminished as a result of the pandemic.
Objective. To assess the efficacy of rituximab on disease activity and muscle strength in patients with inflammatory myopathies refractory to conventional therapy.
Methods. Thirteen patients were ...treated with rituximab 1000 mg i.v., twice, with a 2-week interval and followed for a median of 27 months. Primary outcomes were disease activity measured by creatine phosphokinase (CPK), lactate dehydrogenase (LDH) levels and muscle strength measured by hand-held dynamometry and manual muscle testing (MMT). Secondary outcomes were improvement in secondary laboratory measures, global assessment of general health, disease activity and pain, CS dose, functional ability, health-related quality of life and safety. Retreatment with rituximab was conducted if disease activity relapsed.
Results. The median levels of CPK and LDH were significantly reduced by 93.2 and 39.8%, respectively, compared with baseline after 34.6 months. The median muscle strength measured by hand-held dynamometry was significantly improved by 21.5% after 24 months. The median increase in muscle strength measured with MMT was 7.0% after 24 months of follow-up, although this did not reach statistical significance. Secondary outcomes improved as well.
Conclusion. Rituximab is an effective treatment in refractory inflammatory myopathies, showing a decrease in CPK and LDH, an increase in muscle strength and improvement in scores of disease activity, general health, functional ability and health related quality of life with sustained effect during a median of 27.1 months of follow-up.
Key questions in COVID-19 are the duration and determinants of infectious virus shedding. Here, we report that infectious virus shedding is detected by virus cultures in 23 of the 129 patients ...(17.8%) hospitalized with COVID-19. The median duration of shedding infectious virus is 8 days post onset of symptoms (IQR 5-11) and drops below 5% after 15.2 days post onset of symptoms (95% confidence interval (CI) 13.4-17.2). Multivariate analyses identify viral loads above 7 log
RNA copies/mL (odds ratio OR of 14.7 (CI 3.57-58.1; p < 0.001) as independently associated with isolation of infectious SARS-CoV-2 from the respiratory tract. A serum neutralizing antibody titre of at least 1:20 (OR of 0.01 (CI 0.003-0.08; p < 0.001) is independently associated with non-infectious SARS-CoV-2. We conclude that quantitative viral RNA load assays and serological assays could be used in test-based strategies to discontinue or de-escalate infection prevention and control precautions.
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