Developmental Medicine and Child Neurology最新文献

Objetivo: Compreender as percepções das famílias e terapeutas sobre a sua participação em um programa domiciliar individualizado via telessaúde implementado para crianças e adolescentes com paralisia cerebral (PC) durante a pandemia da COVID-19 no Brasil. MÉTODO: Estudo qualitativo descritivo com 13 famílias de crianças/adolescentes com PC (Sistema de Classificação da Função Motora Grossa - GMFCS níveis IV-V) e 20 terapeutas que participaram de um programa domiciliar individualizado via telessaúde. Entrevistas semiestruturadas online foram realizadas com os participantes ao final da intervenção para compreender suas expectativas, desafios, benefícios e sugestões para serviços futuros. As entrevistas foram transcritas para realização de análise temática.

Resultados: Os três temas foram: 1- Medo do desconhecido, 2- Novos caminhos, 3- Benefícios e perspectivas futuras. Os participantes reconheceram que o envolvimento ativo da família durante a intervenção, o estabelecimento de objetivos individualizados e a comunicação entre pais e terapeutas levaram a mudanças no envolvimento das crianças, nas rotinas das famílias e no empoderamento dos pais em relação ao processo de reabilitação dos seus filhos. Conclusão: O estabelecimento de parceria entre terapeutas e famílias, associando conhecimento técnico e experiência de vida, contribuiu para a implementação bem-sucedida da intervenção. Ações futuras podem envolver a adoção de modelos de intervenção híbridos, focados nas necessidades específicas das famílias de crianças/adolescentes com paralisia cerebral.

Aim: To compare and examine relationships between participation, environmental factors, and quality of life (QoL) in children with cerebral palsy and physical disability (CP/PD) and typically developing children.

Method: Participants were 59 children (6-12 years; 31 females): 30 with CP/PD (mean age 8 years 7 months, standard deviation 1 year 6 months) and 29 with typical development (mean age 8 years 2 months, standard deviation 1 year 6 months). Parents completed the Participation and Environment Measure for Children and Youth to assess participation, the Pediatric Quality of Life Inventory to assess QoL, and a socio-demographic questionnaire. Gross motor function and additional functional classifications were recorded for the CP/PD group.

Results: Involvement in activities, frequency of participation, and QoL were significantly lower in the CP/PD group than in the typically developing group. The gross motor function levels of the CP/PD group positively correlated with their participation in home activities levels. Community-setting support significantly predicted QoL and mediated (β = 0.66, p < 0.001) between disability level and QoL.

Interpretation: Community-setting support is crucial for enhancing QoL for children with CP/PD. Rehabilitation should emphasize community engagement to improve the children's participation and well-being.

Parents should be included in all decisions about their child's healthcare. When parents are given more control in making these decisions, it helps them feel more empowered.

We know that empowered parents are more confident in managing their child's condition and need less support from health professionals. Research also shows that empowered parents have improved health and wellbeing, and their children's health tends to improve too. This contributes to more efficient and cost-effective healthcare services.

In this project, we wanted to learn more about existing education and training programmes that have been designed to help parents feel more empowered.

Our aim was to give a clear overview of what is already known about this topic, helping us identify any gaps and suggest areas for future research.

We used a method called a scoping review. This involved careful searching through different sources to find programmes that might be relevant to our research. Once we had a full list, we catalogued information about each programme and added it to a database.

We found 212 sources of information about 145 different interventions. You can explore them in our online database: https://eppi.ioe.ac.uk/eppi-vis/Review/Index/762.

We discovered that lots of work has gone into creating programmes to support parent empowerment. Most of these programmes tend to focus on changing parents' behaviours and actions. This means that creating even more new interventions for parents might not be the best use of limited resources.

Aim: To assess the predictive validity of neurodevelopmental screening in toddlers and preschool children with sickle cell disease (SCD) using the Ages and Stages Questionnaire (ASQ). We expected screening in preschool children to predict academic problems in elementary school and future stroke risk.

Method: Using a longitudinal cohort design, academic problems (e.g. grade retention, failing a subject) and increases in stroke risk (e.g. abnormal transcranial Doppler exam) were assessed for a 6-year period after neurodevelopmental screening in 2-year-olds ('toddlers') and 4-year-olds ('preschool children') using medical record review, which included annual information from parents about school functioning. Biopsychosocial variables were examined as alternate predictors.

Results: In total, 30% of toddlers and 34% of preschool children had positive screenings. For toddlers (n = 111), positive screenings on the ASQ predicted academic problems (p = 0.009), but not increased stroke risk (p = 0.938). For preschool children (n = 110), positive screenings predicted academic problems (p < 0.001) and increased stroke risk (p = 0.018). The ASQ independently predicted academic outcomes across cohorts; baseline biomedical factors were unique predictors of stroke across cohorts.

Interpretation: Screening with the ASQ allows for risk stratification for neurodevelopmental outcomes in SCD. Screening in preschool children is important because of changing risk factors with age.

Children with cerebral palsy (CP) benefit most when they receive early, evidence-based rehabilitation. Such interventions can improve their daily functioning and promote well-being. However, putting these practices into routine clinical care is often difficult. Rehabilitation professionals may be aware of these interventions but face barriers to using them consistently. To help bridge this gap, knowledge translation strategies are used to support clinicians in using evidence-based interventions in practice.

This study evaluated a knowledge translation approach using the Early Detection and Intervention Toolkit for Cerebral Palsy (EDIT-CP), an online tool designed to help rehabilitation professionals implement evidence-based interventions. Twenty-three clinicians participated in a 15-week program that included online training, newsletters, and support from a site champion. Researchers measured changes in how often participants used evidence-based practices, their attitude/confidence in using them, and their access to resources. The study also explored whether the toolkit was practical, acceptable, and suitable for clinical use. Focus groups were conducted to understand organizational barriers and factors that could help implementation.

The study found no significant changes in participants' use of evidence-based practices, confidence/attitudes, or resources. The largest improvement was seen in attitudes/confidence toward evidence-based practice, followed by resource access and practice activities. One specific item related to mentorship showed significant improvement. Participants generally found the toolkit helpful, practical, and acceptable. However, broader organizational challenges, such as time constraints, staffing, and systemic support, may limit the long-term use of these strategies.

Overall, this knowledge translation strategy showed promise in supporting rehabilitation professionals to adopt evidence-based interventions for children with CP. While the toolkit was well-received, addressing larger organizational barriers will be critical for sustaining improvements in clinical practice and ensuring children with CP receive the full benefits of early, evidence-based care.

Aim: To assess the efficacy and tolerability of intravenous immunoglobulin (IVIG) in reducing febrile status epilepticus in children with Dravet syndrome.

Method: We conducted a retrospective multicentre study across seven French university hospitals (2005-2022). Children with genetically confirmed Dravet syndrome who received sequential IVIG were included. Clinical data were collected over two 6-month periods: before and after IVIG initiation.

Results: Fourteen individuals (six males, eight females) were included. At IVIG initiation, all were in the stormy phase, aged 10 to 92 months, and receiving a median of four antiseizure medications. IVIG was administered every 1 to 6 weeks (0.3-0.5 g/kg per infusion). Hospitalizations for status epilepticus significantly decreased, from a median of 4 (range 0-16) at baseline to 1 (range 0-6) after treatment (p = 0.002). Twelve individuals improved, two remained stable. Adverse events occurred in 6 out of 14 individuals, including infusion-related fever or seizures. Central venous access was required in six cases. IVIG was continued beyond 6 months in 11 out of 14 individuals.

Interpretation: These series suggest a potential benefit of IVIG in reducing status epilepticus in selected children with Dravet syndrome. However, tolerability and feasibility issues were identified. A prospective controlled trial is warranted to further define the role of IVIG in this population.

Cerebral palsy (CP) is the most common physical disability in childhood and affects movement and posture throughout life. Many children and adults with CP are less active than their peers, which can lead to lower fitness and higher risks of heart and lung problems. Improving fitness is important, as these health issues contribute to poorer quality of life and even early mortality in people with CP.

This study reviewed 11 clinical trials including 387 participants with CP to understand whether functional training (exercises that focus on practicing everyday tasks like standing up from a chair, squatting, or climbing steps) can improve fitness. We looked at outcomes such as walking distance, energy cost during walking, walking speed, and stair climbing ability.

The findings suggest that functional training may improve walking distance in the 6-minute walk test and could reduce the effort needed for walking, as indicated by changes in the Physiological Cost Index. At the same time, there was no clear evidence of benefit for walking speed or stair climbing performance. Overall, these results indicate that functional training has the potential to support cardiorespiratory fitness in individuals with CP, although the certainty of evidence is limited and findings vary between studies.

This qualitative descriptive study was designed to explore the expectations of parental caregivers whose children with central nervous system disorders were undergoing hip or spine surgery. The objective of the study was to understand the expectations parental caregivers hold regarding their child's perioperative trajectory and the experiences that shape these expectations.

Parental caregivers were interviewed both preoperatively and 3 months postoperatively. Parental caregivers whose child was scheduled for a hip or spine surgery were invited to participate in the study. The study took place between November 2023 and July 2024. The study applied the Integrative Model of Patients' Expectations as its conceptual framework. Transcripts from the interview were analyzed using conventional content analysis.

Cerebral palsy (CP) is caused by an early brain injury that does not worsen over time, yet many individuals with CP develop muscle and joint problems as they grow. To understand why, we reviewed all published studies that examined muscle tissue from individuals with CP using biopsies or measurements taken during surgery. These studies looked at muscle structure under the microscope, the molecules that make muscle work, and how muscle function differs compared to individuals without CP.

Despite many differences in study design, several themes were consistent. Muscles from individuals with CP often show a wider mix of muscle cell (or muscle fiber) sizes. Shifts in muscle fiber types (the slow ‘marathon’ vs fast ‘sprinter’ fibers) and more stretched sarcomeres—the tiny contractile units within the fiber—are also consistently found. Many studies describe more collagen and other connective tissue around the fibers, fewer small blood vessels that deliver oxygen, and changes at the nerve–muscle connection. In addition, the mitochondria (the cell's ‘power plants’) often appear reduced in amount or function, and satellite cells (muscle stem cells important for growth and repair) may be altered.

Taken together, these differences can help explain why movement may cost more energy, fatigue arrives sooner, and mobility is limited for some individuals with CP. However, findings are not always the same from study to study. This is partly because CP is very diverse, and because researchers have studied different muscles and age groups, as well as used different control groups to compare the findings.

Children who are born very early (before 32 weeks of pregnancy) often face challenges as they grow up. One area that can be affected is working memory. This is the ability to keep information in mind for a short time and use it — for example, remembering a teacher's instructions or where you placed your keys. Working memory is important for school and everyday life.

In our study, we compared 53 children born very preterm with 53 children born full-term, all between 9 and 13 years old. We measured their working memory using a computer task and recorded brain activity simultaneously. We further assessed their motor skills, such as balance and manual dexterity.

Our results indicated that children born very preterm had more difficulty storing and using visual information in working memory. Their brain activity patterns also suggested challenges when the task became more demanding. Importantly, we discovered that differences in motor skills explained much of the gap in working memory performance. Children born very preterm who had poorer balance and hand skills also showed the greatest difficulties with working memory.