Developmental Medicine and Child Neurology最新文献

Cerebral palsy (CP) is a condition that makes it hard for people to move and control their muscles. More than 90% of children with CP grow up to be adults. However, many adults with CP get tired easily, feel pain, and have trouble moving around as they get older. They are also more likely to have other health problems like diabetes, heart issues, stroke, and weak bones, so they need regular healthcare to help manage their CP and other health problems. Previous research has shown that adults with CP often have many health problems and use different health services. But there has not been much research on how well they can get this help in Ireland.

In our study, we wanted to find out how adults with CP use health services and what their experiences were like. We talked to 21 adults with CP, seven people who support them, and 15 healthcare providers who work with adults with CP. Out of the 21 adults with CP we interviewed, most were women (67%) and most used wheelchairs (67%). We used a method called thematic analysis to look at all their experiences.

Cerebral palsy rarely has a sole cause; more often, a sequence or combination of factors contributes to the risk of brain injury and cerebral palsy. There has been recent interest in the contribution of congenital anomalies to the development of cerebral palsy. Congenital anomalies, or birth defects, are structural changes that occur while a baby is in the womb. They are known to occur more frequently in persons with cerebral palsy compared to people without cerebral palsy.

In this study, we wanted to know what proportion of persons had major anomalies and how they contributed to the development of cerebral palsy. We used information from a cerebral palsy register on 2238 persons with cerebral palsy born in the Australian state of Victoria between 1999 and 2017. We classified any known major congenital anomalies based on whether they affected the brain, heart, or another body system. We also determined the potential for the anomalies to contribute to the development of cerebral palsy.

Most children with dyskinetic cerebral palsy (CP), due to motor impairments of varying severity, face challenges with speech and using widely available computer interfaces like a mouse, joystick, or touchscreen. Eye-tracking technology, which enables computer access through eye movements, offers a promising solution for enhancing their independence in daily activities, such as communication, play, education, and leisure.

This study explored two key aspects of eye-tracking use: (1) the quality of eye movements, and (2) user experience, measured by stress levels. We included 12 children with dyskinetic CP and 23 typically developing peers, asking them to play 10 eye-tracking games of varying difficulty. We recorded their eye-tracking performance times, eye movements (fixations and saccades), and stress levels during both rest and gaming.

Our findings reveal that children with dyskinetic CP took twice as long to complete the 10 eye-tracking games compared to their typically developing peers. However, the quality of the eye movements and stress levels during gaming were similar across both groups. Notably, children with dyskinetic CP with prior eye-tracking experience performed even more closely to their typically developing peers, highlighting the importance of providing eye-tracking training opportunities as early as possible.

Cerebral palsy (CP) is a neurodevelopmental disorder that affects movement, posture, and muscle tone. It results from brain damage that occurs before, during, or shortly after birth. The highest risk factor is preterm birth, with around half of all children with CP being born preterm.

In Denmark, the overall number of children with CP has been declining over the past couple of decades. However, the number of children born preterm with CP has slowly been increasing since the early 2000s. This study aimed to explore the reasons for this rise.

Our results reveal that the increase in CP among children born preterm was primarily driven by a significant rise among those born very preterm (between 28–33 weeks), with a similar trend among those born extremely preterm (before 28 weeks). During the study period, neonatal survival rates improved across all preterm gestational ages, suggesting that more infants at high risk for CP are surviving. Interestingly, similar trends in comparable countries, such as Sweden, Australia, and Canada, did not show an increase in CP despite similar improvements in survival rates, highlighting the complexity of the factors involved.

Key clinical factors that changed during the study period included a rise in high-risk pregnancies, maternal obesity, neonatal admissions, the use of emergency cesarean sections, and assisted ventilation treatment for newborn infants. These changes suggest a shift in the Danish approach to obstetric and neonatal care, towards more active neonatal life support, which may contribute to the rising CP prevalence. Moving forward, it is crucial to continue monitoring these trends and to develop strategies to support infants born preterm and their families.

Aim: We assessed whether behavioural and emotional problems of 5- to 6-year-old preschool children born very preterm (<32 weeks' gestation) are associated with an immigrant background and linguistic distance of their first language to the host country's official language, German.

Method: This is an observational longitudinal cohort study. Data are from the national multicentre German Neonatal Network cohort, including all very preterm births from 2009 onwards. A total of 3220 (n = 1570 female) children were followed up at preschool age; 629 (n = 324 female) of these had an immigrant background. Behavioural and emotional problems were assessed using the parent-reported Strengths and Difficulties Questionnaire (SDQ).

Results: Mixed-effects models showed that immigrant status alone was not associated with children's behavioural and emotional problems. However, a higher linguistic distance of the children's first language to German was associated with higher SDQ total problem scores (coefficient = 0.008, 95% confidence interval 0.002, 0.015), after adjusting for known confounders.

Interpretation: Language barriers in the form of linguistic distance between the first language of children born very preterm and countries' official languages are associated with increased risk for behavioural and emotional problems. More research is needed on how language barriers affect long-term developmental outcomes of immigrant children born very preterm.

Aim: To identify the incidence and type of adverse events reported after chemodenervation with onabotulinum neurotoxin A (BoNT-A) in children with hypertonia and sialorrhea and compare adverse events in the on-label or off-label use of BoNT-A with regard to dose, patient's age, and location of the injection.

Method: Using a retrospective chart review, we studied BoNT-A injections occurring from January 2017 to December 2020 in patients at a pediatric hospital. The electronic health record was examined to identify adverse events reported within 2 months of the injection. Data included the patient's age, sex, race, and ethnicity, as well as the type of toxin injected, the dose, the location of injection, and the patient's weight.

Results: We analyzed 1733 procedures. Adverse events were infrequent (2.5%) and not serious, most commonly reported as pain or discomfort. All adverse events were temporary and there were no deaths. We did not observe a meaningful difference in the frequency of adverse events for injections that exceeded the 2022 US Food and Drug Administration (FDA)-approved maximum dose compared to injections that were within the FDA-approved dose range. The likelihood of adverse events did not increase with higher doses of BoNT-A. More adverse events were reported for injection into the salivary glands (4.37%) than into the extremities (2.26%).

Interpretation: Higher doses of injected BoNT-A in a pediatric population may be safe. Further work is needed to investigate the relationship between dose and efficacy.

Aim: To describe what is known about hip problems in individuals with developmental central hypotonia.

Method: Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well-known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full-text articles, and extracted data.

Results: Of 89 full-text articles, 79 met inclusion criteria. Studies included 544 individuals aged 1 month to 63 years with Kabuki, 49, XXXXY, Prader-Willi, PURA, Koolen de Vries, Emanuel, TRPM3, Wolf-Hirschhorn, and other rare syndromes. Most diagnoses may be associated with a combination of differences in hip structure or stability that are evident at birth, or develop in early infancy, with increasing hip dysplasia and subluxation over time. Joint or ligamentous laxity was most reported along with hypotonia and hypermobility as risk factors. Limited data were identified about conservative or surgical intervention and outcomes in these populations.

Interpretation: Children with significant hypotonia, with or without a confirmed genetic diagnosis, are at increased risk of hip problems that may be missed with standard neonatal screening. Ultrasound is recommended between 6 weeks and 6 months, and annual orthopaedic review with regular radiographs for older children and adults with significant and persistent hypotonia.

Neonates admitted to the intensive care unit are at risk of brain injury. Importantly, infants with signs of neurological impairment need prompt diagnosis to guide intervention. Cranial ultrasound (CUS) is the first-line imaging tool for infants born preterm. New developments in this technology, which now incorporates high-resolution equipment, have notably improved the performance of CUS in infants born at term and near-term. On the other hand, the potential of CUS as a diagnostic tool in older infants is less established. The lack of studies focusing on this topic, local protocol variability among clinical sites, and divergent opinions on CUS patterns of disease entities are the main constraints. This review provides an overview of state-of-the-art CUS as a decision-making tool under different clinical scenarios, such as neonatal encephalopathy, seizures, and suspected central nervous system infection. The CUS features that characterize several patterns supporting a diagnosis are detailed, focusing on haemorrhage and infection.

Aim: To evaluate whether serum metabolomics differ between ambulatory individuals with cerebral palsy (CP) compared with individuals with typical development and whether functional capacity is associated with metabolite abundance.

Method: Thirty-eight adolescents and young adults were enrolled (CP: n = 19; typical development: n = 19). After functional capacity testing (10-meter walk, sit-to-stand, and peak knee flexion/extension torques), blood was drawn. Targeted serum metabolomics on hydrophilic metabolites were performed by high-performance liquid chromatography coupled with high-resolution and tandem mass spectrometry. Metabolite dimensionality reduction, pathway analysis, fold change, and t-tests evaluated changes in metabolite abundance. Associations were tested between functional measures and metabolite abundance.

Results: Individuals with CP had a significant increase in the abundance of essential amino acids, catabolic products of protein metabolism, and tricarboxylic acid cycle substrates, such as valine, tryptophan, kynurenic acid, and pyruvate (p < 0.05). Importantly, the abundance of numerous metabolites was only highly associated with functional capacity in individuals with CP such that greater abundance was associated with greater capacity, but not in those with typical development.

Interpretation: Our findings show clear increases in serum metabolites in individuals with CP, which are associated with functional capacity for movement. The altered metabolite profile measured after exercise might reflect increased energy production needed for movement. Appropriate nutritional intake during exercise might be needed given increased energy requirements.