Developmental Medicine and Child Neurology最新文献

In this study, researchers looked at how often children with cerebral palsy (CP) experience problems with eating and drinking, and whether these problems are linked to undernutrition (such as low weight, height, or body mass index). The study used data from 2280 children with CP in Sweden.

Rett syndrome is a rare genetic condition that causes serious difficulties with movement, speech, and breathing. Many individuals with Rett syndrome experience sudden ‘episodes’ of unusual breathing, movements, or behaviour. These can look like epileptic seizures, but not all of them are caused by epilepsy. This confusion can lead to unnecessary treatments and extra stress for families.

Our study reviewed 62 research papers published over nearly six decades to understand what types of non-epileptic paroxysmal events (sudden but not seizure-related episodes) occur in individuals with Rett syndrome. We included case reports, family observations, and clinical studies describing these events.

We found that non-epileptic events are quite common and include changes in breathing (such as breath-holding, and hyperventilation), sudden movements (like dystonic posturing or jerking), and abrupt behavioural or emotional changes (such as panic, laughter, or agitation). These episodes often overlap. For example, a breathing change might occur together with altered awareness or body stiffness. Importantly, many of these events were initially thought to be epileptic seizures but were later shown on video-electroencephalogram (EEG) not to be epileptic.

Recognizing the difference between epileptic and non-epileptic episodes is essential. Giving antiseizure medication when it is not needed can cause side effects without benefit. Using tools such as video-EEG, home video recordings, and breathing or heart-rate monitoring can help doctors make a clearer diagnosis. Families play a key role in sharing observations and recordings of these episodes.

The prevalence of cerebral palsy (CP) in low- and middle-income countries is almost twice that in high-income countries. Since 2007, there has been greater appreciation of the social and cultural perceptions of individuals with CP and their lived experiences. An increasing number of CP registries have been established in low- and middle-income countries, enabling improvements in prevention and intervention programs. However, in Brazil, there is still no unified national registry for CP.

The SARAH Network of Rehabilitation Hospitals described the profile of 17 771 Brazilian individuals with CP, from January 2023 to September 2024, who were followed at its rehabilitation units located in four of the five regions of the country.

Brazil presents large socioeconomic inequalities, with characteristics that in some aspects resemble high-income countries and in others resemble low- and middle-income countries. These differences impact access to public health services across regions and are also reflected in CP indicators. The Brazilian profile showed a higher mean age at CP diagnosis, with most cases attributed to perinatal (the period surrounding childbirth) factors, a higher prevalence of spasticity with bilateral (affecting both sides) involvement, and a greater proportion of severe cases according to the Gross Motor Function Classification System – patterns typically seen in low- and middle-income countries. On the other hand, some characteristics were closer to those of high-income countries, such as more than half of the births being vaginal deliveries and most infants having a normal birthweight.

We reviewed research on children and adults with cerebral palsy (CP) doing parasports (adaptive sports for people with disabilities). We wanted to understand the ways that playing sports can affect health, function, and quality of life.

Young people with CP are less active than their peers. Exercise is a type of medicine, and parasports deliver it through fun, social connection, and skill-building. Parasports aren't just for ‘athletic’ kids—they should be considered an essential part of healthcare for everyone with CP, just like therapy!

We've created a guide that shows which sports work for different mobility levels and the available adaptations. Many parasports can be done through integrated community sports clubs, making them easier to access. Healthcare providers should discuss parasport options with people with CP and their families.

Periventricular hemorrhagic infarction (PVHI) is a rare type of brain injury in newborn infants. It happens when blood vessels in the brain become blocked or damaged, leading to bleeding and loss of brain tissue. PVHI is more common in infants born very preterm, but it can also occur in infants born close to their due date (near-term). Because it is so rare in term-born infants, doctors might struggle to give an accurate prognosis, and families often are unable to find reliable information.

To address this gap, our research team studied 20 near-term infants diagnosed with PVHI. We carefully reviewed their symptoms, brain scans, and early brain monitoring, and followed their development over time.

We discovered three important insights. Most infants with PVHI showed seizures around their second day of life. We also identified a specific frontal brain region, the caudate vein territory, that was most often affected. In addition, many of the infants carried a common genetic variation (MTHFR mutation) that might increase the risk of clotting, pointing to a potential factor that deserves closer attention in future studies.

Our results suggest that seizures soon after birth are an important early sign and should be carefully checked by medical teams. We also argue that early brain monitoring (with electroencephalogram) and brain scans can provide valuable information about the type and extent of injury. Genetic testing may also be useful in identifying infants who carry variations that could increase their risk. Due to the small sample size, it is too early to draw firm conclusions about long-term outcomes. Children may face motor difficulties or develop challenges later in childhood, which makes regular monitoring and early support especially important.

This study aimed to identify factors that might influence how people with cerebral palsy (CP) use hospital services in an area of Victoria, Australia. We examined information that is routinely collected by a health service (2019–2023). We looked at the type of health service (inpatient care, emergency department, outpatients, community programs); how many times a person visited the hospital; their age, sex, living situation, and the socioeconomic conditions of where they lived.

There were 284 individuals with CP in the study, with equal numbers of males and females. Their average age was 41 years old. Hospital visits ranged from once only, up to 163 times over a period of 5 years. Thirty percent of emergency department visits were described as ‘not emergency/nor urgent’. Sex did not make a difference to the number of times individuals visited hospital services. Living in supported accommodation increased the likelihood of going to any hospital services, including the emergency department. Younger adults were less likely to visit the hospital compared to children, and older adults were more likely to use inpatient care than children. An individual's socioeconomic status had a variable effect on whether they used health services or not.

The information used in this study did not allow us to describe an individual's severity of disability, which is known to affect how many times an individual goes to hospital. Individuals living in supported accommodation may use the emergency department more often because it is more accessible than their family doctor – but this is not known.

With the increase in life expectancy, people with chronic conditions, such as cerebral palsy (CP) are transitioning more throughout the life stages. During the transition to adulthood, the acquisition of autonomy in different adult life demands begins. In this study, we aimed to describe autonomy in participation levels in different life areas and explore factors associated with the level of autonomy of Brazilian young people with CP.

One assessment was performed with different tools to collect data regarding: cognition; age, sex, education, perceived self-efficacy; family income, parents' education; gross motor, manual, and communication classifications; and autonomy in participation.

A total of 114 young people with CP participated (mean age 25 years 11 months, 67 females). Complete autonomy in participation was observed in most life areas. The areas of romantic relationships and sexuality were the areas with the lowest autonomy levels, while rehabilitation and leisure showed high autonomy levels. The autonomy levels tended to increase with higher self-efficacy and age.

This study looked at whether the Akwenda Intervention Program could help children and young people with cerebral palsy (CP) take part more fully in everyday life in rural Uganda. Participation means being present at activities (attendance) and being actively involved when taking part (involvement). A total of 100 children and young people aged 2 to 23 years took part in the study. Half received the intervention right away, while the other half were placed on a waiting list. Researchers used a tool called Picture My Participation to measure how often each participant attended and engaged in 20 different home and community activities.

The results were clear. Children and young people who received the Akwenda Intervention Program showed much larger improvements in both attendance and involvement than those in the control group. They joined activities more often and were more engaged when they participated. These improvements were seen across all ages and all levels of movement ability. Interestingly, the biggest gains were in participants with more severe mobility limitations and in community-based activities, such as visiting friends, attending events, or joining group activities. Increases in attendance were also linked to improvements in daily self-care and social skills. This shows how different areas of a child's development support each other: when functioning improves, participation can increase—and greater participation can also support further development.

Clinicians and families regularly use shared decision making to establish goals and outcome measures. Seldom, if ever, is the critical question of time usage, or more specifically, time-related burdens accounted for. Time-related burdens are not included as an outcome measure in cerebral palsy research—something which may have profound effects about which we are unaware. We seek to apply the concept of time toxicity to people with disabilities who frequently use healthcare services.