Developmental Medicine and Child Neurology最新文献

Aim: To identify research priorities regarding the effectiveness of interventions for children and young people (CYP) with childhood neurological conditions (CNCs). These include common conditions such as epilepsies and cerebral palsy, as well as many rare conditions.

Method: The National Institute for Health and Care Research (NIHR) and the James Lind Alliance (JLA) champion and facilitate priority setting partnerships (PSPs) between patients, caregivers, and clinicians (stakeholders) to identify the most important unanswered questions for research (uncertainties). A NIHR-JLA and British Paediatric Neurology Association collaboration used the JLA PSP methodology. This consisted of two surveys to stakeholders: survey 1 (to identify uncertainties) and survey 2 (a prioritization survey). The final top 10 priorities were agreed by consensus in a stakeholder workshop.

Results: One hundred and thirty-two charities and partner organizations were invited to participate. In survey 1, 701 participants (70% non-clinicians, including CYP and parent and caregivers) submitted 1800 uncertainties from which 44 uncertainties were identified for prioritization in survey 2; from these, 1451 participants (83% non-clinicians) selected their top 10 priorities. An unweighted amalgamated score across participant roles was used to select 26. In the final workshop, 14 health care professionals, 11 parent and caregivers, and two CYP ranked the 26 questions to finalize the top 10 priorities. Ten top priority questions were identified regarding interventions to treat CYP with CNCs and their associated comorbidities, for example, sleep, emotional well-being, and distressing symptoms.

Interpretation: The results of this study will inform research into the effectiveness of interventions for children with neurological conditions.

Aim: To analyse the rising prevalence of cerebral palsy (CP) in children born preterm in Denmark.

Method: We included all live-born children born preterm in Denmark from 1997 to 2013. The prevalence of CP in children born preterm was categorized by gestational age and correlated with neonatal mortality and changes in clinical factors.

Results: Among 70 876 children, 824 (1.2%) had CP. The overall CP prevalence in children born preterm decreased substantially until 2001, from when it increased annually by 2.8% (95% confidence interval 0.6-5.0). When categorized, the prevalence only increased significantly in children born very preterm (gestational weeks 28-31). Neonatal mortality rates decreased steadily at all gestational ages during the entire study period. Clinical factors that changed during the study period were increasing numbers of high-risk pregnancies, maternal obesity, emergency caesarean sections, neonatal admissions, and usage of assisted ventilation.

Interpretation: The increasing prevalence of CP in children born preterm was driven by the subgroup born very preterm and matched their decrease in neonatal mortality. In similar population studies, decreased mortality was not followed by increased CP prevalence. An increase in clinical risk factors was unlikely to explain our findings, but more active neonatal life support may have played a role.

Aim: To develop a screening tool (the screening Hand Assessment for Infants [s-HAI]) for infants aged from 3.5 months that can identify a high risk of developing unilateral cerebral palsy (CP) based on a selection of items from the HAI.

Method: Receiver operating characteristic curve analysis was performed on previously collected HAI assessments from 212 infants (104 females, 108 males) aged from 3.5 to 8.5 months, to select items suitable for screening. The area under the curve (AUC), sensitivity, specificity, and cut-off values were derived for the suggested item combination. The clinical outcome (unilateral CP yes or no) at 24 months or older served as the external criterion.

Results: About half of the infants developed unilateral CP. The AUC across the items ranged from 0.63 to 0.80, and from 0.85 to 0.87 for different item combinations. Sensitivity for the selected 6-item set was 91% for 8 points or less and 88% for 7 points or less on the contralesional score of each hand, while specificity was 60% and 73% respectively.

Interpretation: The s-HAI, designed from six HAI items, has the potential to be used to screen infants at risk of unilateral CP from 3.5 months of age. It is easy to administer, time-efficient, and can be used in different settings. Its measurement properties and feasibility need to be tested in a new data set.

Aim: To explore the effect of a 4-week structured power wheelchair skills training programme (WSTP) intervention on mobility skills and participation in children and young people (CYP) with cerebral palsy (CP).

Method: This was a one-group, repeated-measures study; baseline, intervention, and retention phases, each lasting 4 weeks, were used. Twelve participants (three females, nine males) with a mean age of 15 years 11 months (SD = 3 years 6 months) classified in Gross Motor Function Classification System levels IV and V participated in the study. To be included in the study, individuals had to be aged 6 to 21 years and currently using a power wheelchair. Participants received 12 WSTP training sessions of 45 minutes, 3 times per week. Power mobility skills were assessed using the Wheelchair Skills Test (WST) before baseline, before the intervention, after the intervention, and at the follow-up; mobility-related participation was assessed with the Canadian Occupational Performance Measure (COPM). Generalized mixed models with Bonferroni correction were used to assess the differences between the assessment points (p < 0.05).

Results: Statistical analysis showed a 10.4% (12.5) increase in WST total scores (p < 0.001) after the intervention compared to before the intervention, and a 1-point (0.9) increase in the COPM performance subdomain (p = 0.002).

Interpretation: Power mobility skills and mobility-related participation improved after a 4-week WSTP intervention in CYP with CP. Thus, task-based power mobility skills training based on the WSTP, and in line with individualized needs and capabilities, taking place in a natural environment, should be recommended. Power mobility skills training needs to be structured and individualized; the training interventions must consider the individual, the task, and the environment.

A neurological deterioration in a child is both a significant worry to the family and a challenge to the doctor making a diagnosis. We are recognising that the immune system, which plays an important role in protecting and maintaining the brain and body, can contribute to brain disease in children when it becomes unregulated. Sometimes infection itself can trigger inflammation. It is important to work out the underlying cause of this inflammation.

Magnetic resonance imaging plays an important role. However, this can be normal in a proportion of children with brain inflammation, and other types of scans are now being researched but are not yet ready for clinical practice. Fluid around the brain and spine may show evidence of immune upregulation with cells or raised protein, but may also be normal. Careful measurement of chemicals released during inflammation may offer more clues, alongside measuring very specific components of the immune system like proteins that target the body called antibodies. It is important to interpret these tests carefully as they can be found even when there is no disease. Clinicians need to match these findings with how the patients present. Using these methods, researchers have started to recognize new conditions like myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and another called virus-associated encephalopathy syndromes.

It is important to recognize these conditions to be able to begin to treat them. Treatments for neuroinflammation are aimed to promote recovery, and preventing the illness recurring. Furthermore, there is a move towards increasing treatment quickly if children fail to respond adequately. Clinicians and researchers are striving to create treatments targeted to the particular immune response in an individual child.

Children with disabilities and delays benefit from being involved in setting and evaluating intervention goals. When goals hold personal value for children, they can feel more motivated to work towards them, which can improve their intervention outcomes. However, in current practice, parents or therapists are most often the primary decision-makers about intervention priorities. It is unclear which practices can support allied health professionals to actively involve children with disabilities and delays in goal setting and evaluation.

This study aimed to summarize the current knowledge about tools and approaches used for child-led goal setting and evaluation, and understand how these are used across the goal setting process. The study methodology was a scoping review, which involved a systematic search of online databases. Fifty relevant articles were identified, which described four unique tools and three approaches. These tools and approaches were identified to be used with children in six distinct phases of the goal setting process: (1) directing children to set goals, (2) eliciting goal topics and priorities, (3) constructing a goal statement, (4) indicating baseline performance, (5) developing an action plan, and (6) evaluating goal progress. The goal phases were organised into a new framework which can guide allied health professionals in child-led goal setting and evaluation, called DECIDE.

The findings of this study suggest that children with disabilities and delays can be actively involved in setting and evaluating their goals across the DECIDE goal phases. However, more research is needed to validate the effectiveness of child-led tools used for goal evaluation. Future research should involve gathering the perspectives of children and caregivers to develop tools, approaches, and strategies that can optimally support diverse children's participation in goal setting. Furthermore, the impact of child-led tools and approaches on child and family outcomes should be investigated.

Understanding the experiences of adolescents diagnosed with attention-deficit/hyperactivity disorder (ADHD) and taking ritalin and other stimulant medication is crucial in order to improve medical counselling to them. A central theme in these experiences is adolescents' self-esteem and their sense of control on their body and life.

In this narrative review, five databases were searched for studies investigating adolescents' esteem and control experiences with stimulant medication. The nine resulting studies were analysed thematically.

The overarching theme in these studies was ‘improving one's self’. Two subthemes emerged: (1) medication sometimes delivered on its promise to improve ‘the self’, but often it did not, and (2) youngsters felt pressured to conform to behavioural norms and comply with the medication use that adults had decided about.

In order to help youngsters with an ADHD diagnosis for whom stimulant medication is prescribed, they should be involved in the dialogue on desirable and unwelcome effects of the medication, and in the decision making process about it. This will allow them to feel at least partially in control of their body and life, and less pressured to conform to others' norms. This can serve as a major asset for the youngsters' mental and physical health throughout their lives.

Doctors work hard to make patients feel better by reducing their symptoms, help them achieve more, avoid any harm from treatments, and improving their overall well-being and quality of life. To understand how our patients are really feeling, we listen to them talk about their own experiences and sense of satisfaction and/or dissatisfaction with them. This helps us understand what is most important to them.

We know that not everyone feels the same way about their life, so we ask the patients directly about their feelings and health. This is called patient-reported outcomes. It means patients tell us how they feel about their health without anyone else interpreting their answers. For children who have difficulty communicating, parents and caregivers can provide important information based on their observations. However, we recognize that this perspective is different from the child's own feelings.

Patient-reported outcome measures help us understand patients' symptoms, how they are performing daily activities, their overall health, and how they progress over time. This review aims to clarify three main points: (1) What these measures are about. (2) What health issues we are exploring. (3) Who provides the information – the patients themselves or someone else. This is important because sometimes similar but different health issues can get confused, affecting how we understand treatments and make decisions about patient care.

We discuss how to ensure we are addressing the correct health issues, the confusion that can happen if we mix up terms, and how understanding these ideas helps us improve health care, especially for people with brain-related disabilities. We hope to show that clear research questions, good planning of what we want to find out, and understanding the terms we use can lead to better research and findings. It is important for doctors and researchers to be clear about what questions they are trying to answer when they use any health measure or get information from patients.

Succinic semialdehyde dehydrogenase (SSADH) is an enzyme responsible for breaking down a molecule called GABA, which is very important for the brain's system of self-control (inhibitory functions). Deficiency of this enzyme, resulting from genetic mutations carried by both parents, leads to the inherited metabolic disorder termed SSADH deficiency. The increased concentrations in the brains of individuals with SSADH deficiency lead to an imbalance of the excitation and inhibition circuitries needed for proper brain development and function. In addition to intellectual disability, seizures, movement disorders, and behavioral problems, one of the consequences of this imbalance is autism spectrum disorder, which is common in individuals with this condition. The findings of our study showed that autism spectrum disorders are more likely to onset in people with SSADH deficiency beyond a relatively late age of 7 years 2 months and as plasma GABA levels drop below a level of ~2.5 μM. Knowledge of these cutoff values may be applicable for earlier diagnosis and management of autism spectrum disorders in this population. The findings of our study also support the notion that SSADH deficiency needs to be considered in the diagnostic evaluation of autism spectrum disorders, especially if autistic symptoms appear at an older age.