Developmental Medicine and Child Neurology最新文献

Aim: To explore and synthesize interview-based, qualitative research of parents' experiences of having a child who had a paediatric stroke.

Method: A systematic search of literature identified seven studies that used qualitative, interview-based methods to investigate parents' experiences of having a child (younger than 25 years) who had a paediatric stroke. Data were extracted and appraised for quality. All seven studies were included in a meta-ethnography. An advisory group of two parents contributed to the analysis through two consultation meetings.

Results: A conceptual model of parents' experiences was developed, highlighting the lack of childhood stroke awareness, insufficient support from healthcare professionals, and the role of societal norms. These factors significantly shaped both the emotional impact on parents and the trajectory of their experiences, from emergency response to adjustment.

Interpretation: Greater awareness of childhood stroke, alongside sustained professional support for families, may substantially improve outcomes for parents and their children.

Duchenne muscular dystrophy (DMD), a genetic disorder caused by a fault in the DMD gene, causes muscles to weaken and lose function due to lack of dystrophin protein. Steroids (glucocorticoids), part of the standard of care, slow muscle damage but can impact growth in children.

In the FOR-DMD study, steroid-naive young males with DMD aged 4 to 7 years were given one of three steroid treatments: daily prednisone, intermittent prednisone (10 days on, 10 days off), or daily deflazacort. Researchers followed their height, weight, and body mass index (BMI) z-scores over 3 years and 4 years and looked at the factor that influenced those trajectories and how this related to their motor performance measured using tests like time to stand from supine, time to walk/run 10 meters, distance walked in 6 minutes, and total score in the North Star Ambulatory Assessment.

The study found that height z-score at steroid initiation, rather than age, better predicted growth trajectory, young males who were taller grew more slowly over time. Older age at steroid initiation led to greater weight gain, emphasizing the need for proactive nutrition and considering deflazacort for those with higher baseline weight. The steroid type and regime influenced height and weight, but not BMI z-scores. Cumulative steroid dose did not influence anthropometric measurements. Long-term changes in height and weight z-scores, rather than absolute values, more strongly influenced motor performance, with faster growth or weight gain associated with slower motor performances; though this link was weak early on, it became stronger after about 5 years.

In the first years of life, infants are growing, learning, and gaining skills at a rapid pace. While this process is partly predetermined, there are many factors that may also influence it in a positive or negative way. This paper focuses on factors that can be modified to promote development in all infants, with particular attention here to children with motor delays or disabilities as a result of cerebral palsy (CP).

Seven key factors, referred to as E-words, are described, starting with earl(y)ier which advocates that we strive to detect challenges infants may be having as soon as possible to have the greatest impact on development. Infants are not merely passive beings, but active agents in their own development. Greater infant engagement (or showing interest in their surroundings and the people in them) is important for learning and fosters greater exploration of objects and their world involving all of the senses. Exploration is, by definition, child-initiated and driven. An enriched environment with both mental and motor challenges also facilitates learning of new skills, as does exposing your infant to a wide range of experiences. Parents are the most important influences in infants' lives, so it is important that they are aware of how they can shape their child's environment or experiences on an everyday basis to promote development. Finally, physical activity, or exercise, is important for health and well-being at all ages, and infancy is no exception. Infants love and need to be mobile and children with CP tend to be less active than their peers; therefore, they need this even more.

The study included 19 males and 21 females. Their age at the time of enrollment ranged from 1 year 7 months to 16 years and 8 months, with an average of 5 years. Overall, we found that while most developmental skills were lost by about 8 years, the majority of participants continued to engage with their families through vocalizations, smiles, and laughter over the course of their disease. Four participants received a tracheostomy at a median age of 6 years 2 months, and eight died with a median survival age of 10 years 10 months. Health-related quality of life was significantly more impacted in the infantile PLAN group compared to a US normative population. The greatest differences were noted in the areas of physical abilities, growth and development, and general health perceptions. Looking at change in scores over time, the greatest impacts were seen in physical abilities and effects on parents, reflecting the greater emotional and practical burdens associated with progression of a neurological disease.

Infantile epileptic spasms syndrome (IESS) is a rare but severe type of epilepsy that typically begins within the first 2 years of life. It often causes frequent seizures and serious developmental delays. Understanding the genetic causes of IESS is critical for improving early diagnosis, guiding treatment, and ultimately enhancing outcomes for affected children and their families.

In this nationwide study conducted across six hospitals in China, we analyzed genetic data from 430 children with genetically confirmed IESS. The average age at seizure onset was around 6 months. Hypsarrhythmia (a characteristic EEG pattern) was observed in 294 children (74.6%) within the first year of epileptic spasms onset. Most of these children carried variants in a single gene (394/430, 91.6%), while others had copy number variations or chromosome abnormalities. We identified 168 genes associated with IESS in this cohort, including 14 genes not previously linked to any known disease. By integrating our results with published research, we compiled a total of 346 IESS-related genes and explored how these genes influence brain development and neuronal signaling. The functions of these genes are mainly related to membrane potential, synaptic signaling, and various ion channel activities. This study represents the largest cohort of genetically confirmed patients with IESS to date. It provides a comprehensive overview of the clinical and genetic features of IESS and constructs a detailed genetic landscape of the condition.

This study explored the experiences of people with cerebral palsy (CP) regarding falls. Researchers asked 316 people (adults with CP or caregivers of children with CP) to answer open-ended prompts about falls, including their causes, impact, how they try to prevent them, and how society could change to make falling physically and mentally safer. Researchers analyzed the text responses and discovered falling is a common and lifelong concern, impacting physical and emotional well-being.

Falls were often caused by trips, fatigue, distraction, and other people. Age-related changes seem to worsen balance. Many participants adapted by using assistive devices, crawling/scooting, being more careful, or avoiding risky situations or spaces. These adaptations showed creativity and resilience, but avoidance also limited participation in social activities.

The emotional impact of falls was often a greater problem than physical injuries from falls. Many participants felt embarrassment, anxiety, fear, and reduced confidence, especially when falling in public. Children and adults alike worried about how others viewed them. Participants wished that people would ask if and how to help after a fall, rather than overreact.

Environmental barriers like stairs, slopes without handrails, and cluttered public spaces increased concern about falling and made people feel unsafe. Participants suggested practical solutions like better public accessibility, clearer walkways, seating areas to rest, and enforcement of disability policies. They also called for better fall prevention training in healthcare, more tailored physical therapy, and support across the lifespan.

Why?

Children with cerebral palsy often experience a loss of joint range of movement as they grow. This can lead to reduced function and pain, but less is known about what happens in adulthood. This study looked at how the range of motion in the arms and hands change over time in adults with cerebral palsy. Range of motion refers to how far a joint can move in different directions, which is important for daily tasks like dressing, personal care, eating, reaching, and carry things.

How?

Passive range of movement was measured in the shoulder, elbow, and wrist of 1395 adults with cerebral palsy aged 16 to 76 years. The adults were followed for up to 13 years and all measurements were collected systematically through the Swedish cerebral palsy follow-up program and registry (CPUP). Changes in movement were calculated individually and shown as mean values for adults with different hand function, classified as levels I to V of the Manual Ability Classification System (MACS).

What did we find?

So what?

Aim

To understand the status of cerebral palsy (CP) among children in rural areas of Malawi.

Method

We took a snapshot of children with CP younger than 18 years of age whose parents or guardians had agreed for them to be recorded in the Malawi Cerebral Palsy Register (MCPR), living in one of Malawi's rural districts. Community child safety volunteers were trained to identify children with suspected CP. Later, a team of medical experts assessed all the identified children to confirm the CP diagnosis. We recorded the children's health status at the time of assessment, factors that may have contributed to their CP as well as other health conditions present. We used statistics to summarize the data and drew some conclusions from the findings.

Results

A total of 955 children were screened (December 2023–June 2024), and of these, 577 were registered. Most children were around the age of 5 years 4 months at the time of registration and were predominantly male (59.9%). CP affecting both lower and upper limbs was common (46.3%), with the majority (91.8%) either being able to move using either walkers or wheelchairs, as well as those who had limited mobility requiring full assistance. Almost 2 out of every 1000 children in this rural district had CP. The lack of oxygen supply to the baby's brain around the time of birth (40.6%) and malaria affecting the brain (12.0%) were the most likely causes of CP. Most mothers delivered in a hospital setting (95.4%); however, prolonged labor was reported in 37.3% of the mothers.

Interpretation