Digital health literacy and digital engagement for people with severe mental ill health across the course of the COVID-19 pandemic in England.

BACKGROUND: An unprecedented acceleration in digital mental health services happened during the COVID-19 pandemic. However, people with severe mental ill health (SMI) might be at risk of digital exclusion, partly because of a lack of digital skills, such as digital health literacy. The study seeks to examine how the use of the Internet has changed during the pandemic for people with SMI, and explore digital exclusion, symptomatic/health related barriers to internet engagement, and digital health literacy. METHODS: Over the period from July 2020 to February 2022, n = 177 people with an SMI diagnosis (psychosis-spectrum disorder or bipolar affective disorder) in England completed three surveys providing sociodemographic information and answering questions regarding their health, use of the Internet, and digital health literacy. RESULTS: 42.5% of participants reported experiences of digital exclusion. Cochrane-Q analysis showed that there was significantly more use of the Internet at the last two assessments (80.8%, and 82.2%) compared to that at the beginning of the pandemic (65.8%; ps < 0.001). Although 34.2% of participants reported that their digital skills had improved during the pandemic, 54.4% still rated their Internet knowledge as being fair or worse than fair. Concentration difficulties (62.6%) and depression (56.1%) were among the most frequently reported symptomatic barriers to use the Internet. The sample was found to have generally moderate levels of digital health literacy (M = 26.0, SD = 9.6). Multiple regression analysis showed that higher literacy was associated with having outstanding/good self-reported knowledge of the Internet (ES = 6.00; 95% CI: 3.18-8.82; p < .001), a diagnosis of bipolar disorder (compared to psychosis spectrum disorder - ES = 5.14; 95% CI: 2.47-7.81; p < .001), and being female (ES = 3.18; 95% CI: 0.59-5.76; p = .016). CONCLUSIONS: These findings underline the need for training and support among people with SMI to increase digital skills, facilitate digital engagement, and reduce digital engagement, as well as offering non-digital engagement options to service users with SMI.

Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue.

Mastication problems can have a negative impact on the intake of food and quality of life. This cross-sectional study characterizes mastication problems using clinical and instrumental assessments in patients with spinal muscular atrophy (SMA) types 2 and 3 with self-reported bulbar problems. We included 27 patients (aged 13-67 years), 18 with SMA type 2 and 9 patients with SMA type 3 (of whom three were still ambulant) and applied a questionnaire, clinical mastication tests (TOMASS and 6-min mastication test), and muscle ultrasound of the mastication muscles. Non-ambulant patients demonstrated inefficient mastication as reflected by median z scores for masticatory cycles (z = 1.8), number of swallows (z = 4.3) and time needed to finish the cracker (z = 3.4), and limited endurance of continuous mastication as demonstrated by the median z scores of the 6-min mastication test (z = - 1.5). Patients reported increased fatigue directly after the 6-min mastication test as well as 5 min after completing the test (p < 0.001; p = 0.003). Reduced maximal mouth opening was associated with mastication problems (p < 0.001). Muscle ultrasound of the mastication muscles showed an abnormal muscle structure in 90% of both ambulant and non-ambulant patients. This study aims to understand the nature and underlying mechanisms of mastication problems in patients with SMA types 2 and 3 with reported bulbar problems.

Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4.

BACKGROUND AND PURPOSE: Natural history studies in spinal muscular atrophy (SMA) have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects of recently introduced survival motor neuron gene-augmenting therapies. METHODS: We conducted a cross-sectional study to investigate muscle strength, Hammersmith Functional Motor Scale (Expanded) score and the patterns of muscle weakness in relation to age and SMA type. RESULTS: We included 180 patients with SMA types 1-4 in the age range 1-77.5 years with median disease duration of 18 (range 0-65.8) years. With the exception of the early phases of disease in which children with SMA types 2 and 3 may achieve new motor skills and show a temporary increase in muscle strength, cross-sectional data suggested that declining muscle strength and loss of motor skills over time are characteristic of all SMA types. Mean loss of strength was at least 1 point on the Medical Research Council score and 0.5 point on the Hammersmith Functional Motor Scale (Expanded) score per year. Trend lines compatible with deterioration of motor function and muscle strength started in childhood and continued into adulthood. The age at loss of specific motor skills was associated with disease severity. Triceps, deltoid, iliopsoas and quadriceps were the weakest muscles in all patients. Hierarchical cluster analysis did not show a segmental distribution of muscle weakness as suggested previously. CONCLUSIONS: Progressive muscle weakness and loss of motor function are characteristic of all SMA types and all ages.

'Everybody just thinks I'm weird': a qualitative exploration of the psychosocial experiences of adolescents with Tourette syndrome.

BACKGROUND: Research suggests Tourette syndrome (TS) can have a negative impact on quality of life. To date, little research has examined the perspectives of young people with this condition in depth. METHODS: Six 14- to 16-year-olds with TS took part in semi-structured interviews to explore the perceived impact of this condition on self and on relationships with others. The transcripts were analysed using interpretative phenomenological analysis. RESULTS: The young people felt that TS was a constant presence in their lives, but one they have learnt to cope with well. Most had developed supportive friendships but encountered problems when interacting with the wider peer network. Specific concerns around meeting new people and future employment were voiced. CONCLUSIONS: The adolescents described specific ways in which TS affects quality of life and social interactions, and the effort it can take to cope effectively with this condition.

Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment.

Spinal muscular atrophy (SMA) is a progressive motor neuron disease with onset during infancy or early childhood. Recent therapeutic advances targeting the genetic defect that underlies SMA improved survival in patients with infantile onset SMA (type 1) and improved motor function in SMA type 1-3. The most commonly used therapy for SMA, the antisense oligonucleotide nusinersen, is delivered by repeated intrathecal injections. The long-term safety effects of this procedure, however, have not yet been investigated in detail. We here present case reports of three children with SMA in which routine laboratory investigation revealed increased leukocyte counts in cerebrospinal fluid (CSF) collected during the course of nusinersen treatment. To further characterize this observation, we used a multiplex method to analyse a broad spectrum of inflammatory markers in the CSF of these patients. We found that interleukin-10 (IL10) was consistently elevated in CSF with increased leukocyte counts, but other inflammatory markers were not. Based on this analysis we selected 7 markers for further analysis in a cohort of 38 children with SMA and determined their expression during the course of nusinersen therapy. No consistent association was found between levels of inflammatory markers and the duration of nusinersen therapy in individual patients. However, monocyte chemoactive protein 1 (MCP1/CCL2) -a neuroprotective protein secreted by astrocytes and previously associated with SMA- levels increased over the course of nusinersen treatment, indicating a possible neuroprotective mechanism associated with nusinersen therapy. In summary, our findings confirm that repeated intrathecal injections are safe and do not trigger unwanted immune responses.

Measuring the digital divide among people with severe mental ill health using the essential digital skills framework.

AIMS: Amid the vast digitalisation of health and other services during the pandemic, people with no digital skills are at risk of digital exclusion. This risk might not abate by the end of the pandemic. This article seeks to understand whether people with severe mental ill health (SMI) have the necessary digital skills to adapt to these changes and avoid digital exclusion. METHODS: Two hundred and forty-nine adults with SMI across England completed a survey online or offline. They provided information on their digital skills based on the Essential Digital Skills (EDS) framework, sociodemographic information, and digital access. This is the first time that the EDS is benchmarked in people with SMI. RESULTS: 42.2% had no Foundation Skills, and 46.2% lacked skills for daily life (lacking Foundation or Life Skills). 23.0% of those working lacked skills for professional life (lacking Foundation or Work Skills). The most commonly missing skills were handling passwords and using the device settings (Foundation Skills) and online problem solving (Skills for Life). People were interested in learning more about approximately half of the skills they did not have. People were more likely to lack Foundation Skills if they were older, not in employment, had a psychosis-spectrum disorder, or had no Internet access at home. CONCLUSION: A significant portion of people with SMI lacked Foundation Skills in this objective and benchmarked survey. This points to a high risk for digital exclusion and the need for focused policy and tailored health sector support to ensure people retain access to key services and develop digital skills and confidence. To our knowledge, this is the first time this has been described using the EDS framework. Services, including the National Health Service (NHS), need to be aware of and mitigate the risks.

Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.

BACKGROUND: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. OBJECTIVE: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. METHODS: We prospectively included 16 infants with SMA type 1 between September 2016 and October 2018. Eleven infants received palliative care and five infants best supportive care in combination with nusinersen. We compiled and used an observation list with feeding related issues and observed feeding sessions during inpatient and outpatient visits. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) was used as a measure of motor function. RESULTS: All infants in the palliative care group (median onset of disease 14 days (range 1-56); median inclusion in the study 52 days (range 16-252) demonstrated symptoms of fatigue during feeding and unsafe swallowing. Symptoms were short nursing sessions (10-15 minutes), and not being able to finish the recommended feeding volumes (72%); increased frequency of feeding sessions (55%); coughing when drinking or eating (91%), and wet breathing during and after feeding (64%).Two out of five infants in the nusinersen group (median onset of disease 38 days (range 21-90); inclusion in the study at 63 days (range 3-218) were clinically pre-symptomatic at the start of treatment. The other three infants showed symptoms of fatigue and unsafe swallowing at inclusion in the study. These symptoms initially decreased after the start of the treatment, but (re)appeared in all five infants between the ages of 8 to 12 months, requiring the start tube of feeding. In the same period motor function scores significantly improved (median increase CHOP INTEND 16 points). CONCLUSION: Impaired feeding and swallowing remain important complications in infants with SMA type 1 after the start of nusinersen. Improvement of motor function does not imply similar gains in bulbar function.

Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy.

Proximal spinal muscular atrophy (SMA) causes severe physical limitations but also has a major impact on the lives of parents. The aim of this study was to investigate participation and mental well-being (burden, emotional distress and satisfaction with participation) of parents of home-living patients with SMA. Caregiver burden was assessed with the Caregiver Strain Index, emotional distress with the Hospital Anxiety and Depression Scale and satisfaction with participation with the Utrecht Scale for Evaluation of Rehabilitation-Participation. Because the majority of parents were mothers of home-living SMA patients (76%), further analyses were restricted to mothers. Seventy-seven percent of mothers of patients with SMA had paid work. A substantial proportion of mothers (76%) perceived high caregiver burden. Burden, emotional distress and satisfaction with participation were comparable between mothers of children and mothers of adults with SMA. Caregivers' participation in leisure activities was significantly related to their perceived level of caregiver burden, emotional distress and satisfaction with participation. Mothers engaging in more social and leisure activities reported lower emotional distress and caregiver burden. Considering the high level of burden attention should be paid to mental well-being of primary caregivers of patients with SMA. Caregivers should be motivated to keep participating in social/leisure activities.

Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.

BACKGROUND: Spinal muscular atrophy (SMA) is hereditary motor neuron disorder, characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by the homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA shows a wide variability of disease severity. OBJECTIVE: To investigate self-reported bulbar problems in patients with SMA, and their relationship to age, functional motor scores and active maximum mouth opening. METHODS: We used the Diagnostic List of Dysphagia and Dysarthria in (pediatric) patients and relevant recent clinical data from the national SMA database. RESULTS: The 118 included patients with SMA frequently reported jaw problems (34%), fatigue associated with mastication (44%), choking (56%) and intelligibility problems (27%). Jaw, mastication and swallowing problems frequently occurred in combination with each other. There was an increase of reported bulbar problems in patients with SMA type 3a, older than 30 years of age, compared to younger patients of this SMA type.The Hammersmith Functional Motor Scale Expanded scores showed a negligible correlation with jaw and mastication problems, a low negative correlation with swallowing problems and a moderate negative correlation with intelligibility problems. Reduced mouth opening showed a significant, but low correlation with bulbar complaints in patients with SMA type 2. CONCLUSIONS: Fatigue associated with mastication and swallowing problems were frequently reported complaints. Patients 30 years and older with milder forms of SMA showed an increase of self-reported bulbar problems.

Experience of Self-Harm and Its Treatment in Looked-After Young People: An Interpretative Phenomenological Analysis.

We report the first Interpretative Phenomenological Analysis examination of self-harm and experience of clinical services in young people in the public care system. Qualitative interviews with 24 looked-after young people were completed. Prevalent themes were 1) Changes in care placement, 2) Feelings of anger, 3) Not wanting/feeling able to talk, 4) Developing coping techniques, 5) Clinical services: A relational mixed bag (subthemes: feeling (i) patronized, not listened to, (ii) nothing being done, (iii) comfortable/able to talk). Placement change and anger were highly salient to self-harm in this group and experiences of clinical services depended on individual relationships with clinicians. Implications include increasing compassion in therapeutic relationships, recognizing and managing emotional dysregulation, and increasing support during placement changes.

Cardiac pathology in spinal muscular atrophy: a systematic review.

BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. METHODS: We systematically reviewed reported cardiac pathology in relation to SMN deficiency. To investigate the relevance of the possible association in more detail, we used clinical classification systems to characterize structural cardiac defects and arrhythmias. CONCLUSIONS: Seventy-two studies with a total of 264 SMA patients with reported cardiac pathology were identified, along with 14 publications on SMA mouse models with abnormalities of the heart. Structural cardiac pathology, mainly septal defects and abnormalities of the cardiac outflow tract, was reported predominantly in the most severely affected patients (i.e. SMA type 1). Cardiac rhythm disorders were most frequently reported in patients with milder SMA types (e.g. SMA type 3). All included studies lacked control groups and a standardized approach for cardiac evaluation. The convergence to specific abnormalities of cardiac structure and function may indicate vulnerability of specific cell types or developmental processes relevant for cardiogenesis. Future studies would benefit from a controlled and standardized approach for cardiac evaluation in patients with SMA.

Uncovering key patterns in self-harm in adolescents: Sequence analysis using the Card Sort Task for Self-harm (CaTS).

BACKGROUND: Self-harm is a significant clinical issue in adolescence. There is little research on the interplay of key factors in the months, weeks, days and hours leading to self-harm. We developed the Card Sort Task for Self-harm (CaTS) to investigate the pattern of thoughts, feelings, events and behaviours leading to self-harm. METHODS: Forty-five young people (aged 13-21 years) with recent repeated self-harm completed the CaTS to describe their first ever/most recent self-harm episode. Lag sequential analysis determined significant transitions in factors leading to self-harm (presented in state transition diagrams). RESULTS: A significant sequential structure to the card sequences produced was observed demonstrating similarities and important differences in antecedents to first and most recent self-harm. Life-events were distal in the self-harm pathway and more heterogeneous. Of significant clinical concern was that the wish to die and hopelessness emerged as important antecedents in the most recent episode. First ever self-harm was associated with feeling better afterward, but this disappeared for the most recent episode. LIMITATIONS: Larger sample sizes are necessary to examine longer chains of sequences and differences in genders, age and type of self-harm. The sample was self-selected with 53% having experience of living in care. CONCLUSIONS: The CaTs offers a systematic approach to understanding the dynamic interplay of factors that lead to self-harm in young people. It offers a method to target key points for intervention in the self-harm pathway. Crucially the factors most proximal to self-harm (negative emotions, impulsivity and access to means) are modifiable with existing clinical interventions.