Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS) are rare developmental and epileptic encephalopathies associated with seizure and nonseizure symptoms. A comprehensive understanding of how many ...individuals are affected globally, the diagnostic journey they face, and the extent of mortality associated with these conditions is lacking. Here, we summarize and evaluate published data on the epidemiology of DS and LGS in terms of prevalence, incidence, diagnosis, genetic mutations, and mortality and sudden unexpected death in epilepsy (SUDEP) rates. The full study protocol is registered on PROSPERO (CRD42022316930). After screening 2172 deduplicated records, 91 unique records were included; 67 provided data on DS only, 17 provided data on LGS only, and seven provided data on both. Case definitions varied considerably across studies, particularly for LGS. Incidence and prevalence estimates per 100 000 individuals were generally higher for LGS than for DS (LGS: incidence proportion = 14.5–28, prevalence = 5.8–60.8; DS: incidence proportion = 2.2–6.5, prevalence = 1.2–6.5). Diagnostic delay was frequently reported for LGS, with a wider age range at diagnosis reported than for DS (DS, 1.6–9.2 years; LGS, 2–15 years). Genetic screening data were reported by 63 studies; all screened for SCN1A variants, and only one study specifically focused on individuals with LGS. Individuals with DS had a higher mortality estimate per 1000 person‐years than individuals with LGS (DS, 15.84; LGS, 6.12) and a lower median age at death. SUDEP was the most frequently reported cause of death for individuals with DS. Only four studies reported mortality information for LGS, none of which included SUDEP. This systematic review highlights the paucity of epidemiological data available for DS and especially LGS, demonstrating the need for further research and adoption of standardized diagnostic criteria.
Fully elucidating the burden that Lennox–Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes and quality of life (QoL). This ...systematic literature review evaluated the global burden of illness of LGS, including clinical symptom burden, care requirements, QoL, comorbidities, caregiver burden, economic burden, and treatment burden (PROSPERO ID: CRD42022317413). MEDLINE, Embase, and the Cochrane Library were searched for articles that met predetermined criteria. After screening 1442 deduplicated articles and supplementary manual searches, 113 articles were included for review. A high clinical symptom burden of LGS was identified, with high seizure frequency and nonseizure symptoms (including developmental delay and intellectual disability) leading to low QoL and substantial care requirements for individuals with LGS, with the latter including daily function assistance for mobility, eating, and toileting. Multiple comorbidities were identified, with intellectual disorders having the highest prevalence. Although based on few studies, a high caregiver burden was also identified, which was associated with physical problems (including fatigue and sleep disturbances), social isolation, poor mental health, and financial difficulties. Most economic analyses focused on the high direct costs of LGS, which arose predominantly from medically treated seizure events, inpatient costs, and medication requirements. Pharmacoresistance was common, and many individuals required polytherapy and treatment changes over time. Few studies focused on the humanistic burden. Quality concerns were noted for sample representativeness, disease and outcome measures, and reporting clarity. In summary, a high burden of LGS on individuals, caregivers, and health care systems was identified, which may be alleviated by reducing the clinical symptom burden. These findings highlight the need for a greater understanding of and better definitions for the broad spectrum of LGS symptoms and development of treatments to alleviate nonseizure symptoms.
Summary
Background
Vedolizumab was shown to be effective and safe for patients with ulcerative colitis (UC) or Crohn's disease (CD) in the GEMINI phase 3 and long‐term safety (LTS) studies.
Aim
To ...report treatment persistence and safety results up to 2 years after enrolment in the vedolizumab extended access programme (XAP)
Methods
Vedolizumab XAP is a phase 3b/4, prospective, open‐label, multinational, interventional study. At rollover from GEMINI LTS, patients who were experiencing continued clinical benefit with vedolizumab received reduced dosing frequency from every 4 weeks (Q4W) to every 8 weeks (Q8W). Patient persistence on Q8W dosing, incidence of relapse, and safety 2 years after enrolment were investigated.
Results
We enrolled 311 patients (142 UC and 169 CD). At baseline, 93.7% (UC) and 89.3% (CD) of patients were in clinical remission; 93.0% (UC) and 84.6% (CD) reduced dosing frequency to Q8W at enrolment. Of those who reduced dosing frequency to Q8W at enrolment, 93.9% (UC) and 91.6% (CD) remained on Q8W dosing; 6.1% (UC) and 8.4% (CD) re‐escalated to Q4W dosing. Relapse was reported in 9.1% (UC) and 14.0% (CD) of patients who reduced dosing to Q8W. Adverse events related to vedolizumab were infrequent; no new events were reported.
Conclusion
We observed high patient persistence on vedolizumab Q8W in the first 2 years after the reduction of dosing frequency in the XAP along with low rates of Q4W dose re‐escalation and relapse. The safety profile was consistent with previous reports.
ClinicalTrials.gov: NCT02743806.
For adolescents with cerebral palsy (CP), participating in physical activity (PA) can be difficult due to functional limitations that not only affect an adolescent’s ability or willingness to ...participate in PA but also create particular social concerns. One of the major social concerns is acceptance by peers. Other factors that affect participation in PA include fatigue, lack of energy and decreased coordination (Buffart et al., 2009). As a result, research in the area of PA and adolescents with CP is limited. This research study will utilize hermeneutic phenomenology to gain a more comprehensive understanding of their lived experiences with PA. Hermeneutic phenomenology allows for interpretation of the interviews of the fourteen participant’s stories. The interpretations of each participant allowed for common understandings and themes to be identified. The common understandings identified were: (a) developmental tasks of typical adolescents, (b) place of friends, (c) purpose of PA, (d) importance of support, and (e) wanting to be like the primary researcher. Each of the common understandings are important in interpreting the lived experiences of adolescents with CP as they participate in PA. Most of the 14 participants had similar experiences within the identified common understandings and themes. As health care providers it is important to know why adolescents participate in PA. PA in part helps adolescents find out about themselves and their place within their community. The experiences of adolescents with CP and PA show that participation in PA is a way to connect with friends, meet new people and most importantly provides a feeling of freedom from their disability. Disabled sports programs facilitate a connection with others and provide a safe environment for the participants to gain fitness and feel acceptance within their community. This research study provides health care providers a starting point to talk about PA and help adolescents with CP find activities within their community.
Mobility that is defined here as “the state or quality of movement.” For children with special needs such as cerebral palsy, spina bifida, and other musculoskeletal disabilities, mobility can impede ...participation in everyday life. Throughout the chapter the above definition of mobility is combined with the international classification of functioning, disability, and health (ICF) to demonstrate the importance of mobility, how assistive devices impact mobility, and how healthcare professionals can help promote preventative health through mobility. Nurses are in a unique position to embrace both the medical model to help meet the complex health needs of children with disabilities and the social model to help children and families achieve optimal participation in the community. Healthcare providers can make a difference in the lives of children and adolescents with mobility impairments by focusing on what the child can do if societal attitudes and barriers are removed.
Abstract Older adults with multiple comorbidities are often undernourished or at high risk for becoming so, especially after a recent hospitalization. Randomized controlled trials of effective, ...innovative interventions are needed to support evidence-based approaches for solving nutritional problems in this population. Self-management approaches where participants select their own behavioral goals can enhance success of interventions. The purpose of this study was to evaluate the feasibility and efficacy of a multilevel self-management intervention to improve nutritional status in a group of high-risk older adults. The Behavioral Nutrition Intervention for Community Elders (B-NICE) trial used a prospective randomized controlled design to determine whether the intervention, compared to standard care, maintained or increased caloric intake (depending on baseline body mass index) and, consequently, stabilized or increased body weight. Participants were 34 Medicare-eligible, age 65 years old or older, homebound adults who were consuming insufficient calories and/or had a history of weight loss ≥2.5% over 6 months. The intervention took place within participants' homes. Outcome measures, including energy intake (based on collection of three 24-hour dietary recalls) and body weights were assessed at baseline and at 60 days post randomization. The primary analyses included analyses of covariance and Pearson's χ2 . We hypothesized that the intervention would result in increased caloric intake and weight gain in underweight older adults and increased or stabilized caloric intake and weight for everyone else. The intervention was feasible; however, it did not result in differences between groups for desired outcomes of either caloric intake or body weight. Future interventions might either deliberately involve caregivers or reduce burden for both patients and caregivers.
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