Developmental Medicine and Child Neurology最新文献

Genomic testing has revolutionized personalized medicine by offering tailored diagnostics and treatments based on individual genetic information. It is widely used in pediatric neurology, particularly for early-onset epilepsy, to identify genetic causes and optimize therapies. However, its use in cerebral palsy (CP) has been limited, despite growing evidence of a genetic basis in many instances.

This review explores the potential role of genomic testing in children with CP, emphasizing its benefits in refining diagnoses and personalizing care. While CP has traditionally been thought to result solely from brain injuries, this review highlights the impact of genomic insights on understanding CP. Notably, studies have found that a significant proportion of people with CP may have a single gene mutation that could explain the condition. We highlight the Wnt signalling pathway, which is associated both with neonatal while matter injuries and genetic forms of CP.

The advantages of genomic testing include more precise diagnostic outcomes, better-informed treatment plans, and a clearer understanding of the associated risk factors and co-occurring conditions. However, challenges remain, such as ensuring accurate clinical assessment, interpreting complex genetic data, and addressing ethical concerns when attributing a specific genetic cause to an existing diagnosis of CP.

Aim: To determine school attendance and its predictors among children with cerebral palsy (CP) in Bangladesh using population-based data.

Method: This study utilized data from the Bangladesh Cerebral Palsy Register (BCPR), a population-based register of children with CP aged less than 18 years in Bangladesh. Sociodemographic, clinical, and educational data were documented, and descriptive statistics and multivariate regression analyses were used to identify potential predictors of school attendance.

Results: Between January 2015 and January 2019, 2725 children with CP were registered into BCPR of which 1582 were school-aged children (i.e. aged 6-18 years). The majority of those children had not attended school (73.9%); 50% (n = 239) children in Gross Motor Function Classification System (GMFCS) levels I to II did not attend schools. Adjusted odds ratios (OR) showed significantly higher odds of school attendance among children whose mothers had completed secondary education or higher (adjusted OR: 2.2; 95% confidence interval [CI]: 1.2-4.0) and received rehabilitation (adjusted OR: 2.1; 95% CI: 1.4-3.1). Conversely, lower odds of school attendance were observed among children aged 15 to 18 years (adjusted OR: 0.4; 95% CI: 0.2-0.8), those with bilateral CP (adjusted OR: 0.5; 95% CI: 0.3-0.8), GMFCS levels III to V (adjusted OR: 0.3; 95% CI: 0.2-0.5), Manual Ability Classification System levels III to V (adjusted OR: 0.5; 95% CI: 0.4-0.8), and speech impairment (adjusted OR: 0.3; 95% CI: 0.2-0.6).

Interpretation: A large number of children with CP in Bangladesh, including half of those with milder forms, do not attend schools. These findings underscore a deficiency in awareness and support, encompassing the provision of resources and trained teachers, highlighting the necessity for policy-level changes. Sociodemographic and clinical predictors should be taken into account when devising educational programmes to enhance school attendance for children with CP in Bangladesh.

The Alberta Infant Motor Scale (AIMS) is a widely used test of infant motor development. It is a norm-referenced test because the infant's motor performance is compared to a normative sample of age-matched infants to determine if the infant is developing typically or has a motor delay that requires early intervention services. Although the AIMS was published in English and normed on a sample of infants from Canada, it is used to assess the motor development of infants internationally.

This study investigated the test properties of the AIMS when used for non-Canadian infant populations.

We searched seven international scientific databases for all published studies investigating the test properties of the AIMS and culturally adapted or translated versions when used for non-Canadian infant populations.

We found 49 studies that reported results from 11 663 infants representing 22 countries. We used internationally accepted tools to assess study quality and summarize results.

The world of rehabilitation for cerebral palsy (CP) has changed dramatically in recent years. We have seen a proliferation of labels for rehabilitation therapies. There is widespread dissemination of therapies, often lacking scientific evidence, especially on social media, blogs, and other communication platforms. The labels on the shelves are diverse.

In this scoping review, a team of researchers and a group from the public (two clinical physiotherapists and a mother of a child with CP) used the F-words and the Rehabilitation Treatment Specification System (RTSS) to help identify the components of interventions. The F-words are a set of six terms (fitness, functioning, family, friends, fun, and future) that aim to give a voice to families and children with CP. The RTSS is a theoretical model that specifies and describes rehabilitation interventions, helping to identify the ingredients (what therapists do), mechanisms (how the ingredients are expected to work), and targets (what is expected to change in the child).

Task-oriented training is one of the most effective interventions to improve mobility (e.g. walking, moving, carrying, and moving objects during daily activities) in children with cerebral palsy (CP). In task-oriented training, the goals are set by the child and/or family, real-life tasks are practiced following strict parameters of intensity and repetition, and instructions given are determined according to the context. There are different types of mobility treatments, and the minimum amount of practice needed to improve the mobility of children with CP is still unclear.

We conducted a systematic search in five databases and followed the highest methodological recommendations for systematic review designs. We analyzed 46 studies, published between 2007 to 2023 which included a total of 1449 participants. Mean ages of the participants was between 1 years 2 months and 16 years 4 months. They predominantly had higher levels of gross motor function (Gross Motor Function Classification System level I–III). Many studies (29/46) were not high quality.

Our study reviewed the current literature and found that task-oriented training using treadmill, virtual reality, and functional training improves mobility in children with CP, mainly on walking endurance and balance. It was not possible to determine the minimum dose because the studies were too different. All included studies had a high level of intervention acceptability among the participants. The most frequent adverse health effects were pain and fatigue.

Our findings highlight that more high-quality studies are needed to support and guide clinical recommendations. The use of standardized outcome measure reporting is recommended to better compare results between studies and allow future reviews to find the minimum effective dose.

This study investigated whether the medication lamotrigine could improve cognitive function in adolescents with neurofibromatosis type 1 (NF1). In this double-blind, placebo-controlled trial, 31 participants received either lamotrigine or a placebo for 26 weeks. The primary goal was to determine if the medication would increase their performance IQ, along with other aspects of cognitive performance such as learning, attention, and motor coordination.

The results showed that lamotrigine did not lead to improvements in performance IQ or other secondary cognitive functions. There was a slight indication that lamotrigine might improve sustained attention, but this finding was not strong enough to be considered significant.

People with cerebral palsy (CP) may experience cognitive difficulties that impact several areas of daily life, including quality of life. Among these cognitive impairments, executive function deficits (which include organizing time and planning) are one of the most common. Additionally, there are often impairments in visual perception, such as difficulty with spatial orientation or recognizing objects, and memory. Consequently, it is important to investigate interventions through which benefits in multiple cognitive functions can be obtained and maintained over time to optimize resources, reducing time and costs.

This study explored whether a home-based computerized program designed to improve executive functions could enhance other cognitive functions (memory and visual perception), quality of life, and participation in children with CP. It also looked at whether any benefits lasted for 9 months after the intervention ended.

The study included 60 children aged between 8 and 12 years with CP. There were two groups: the control and the intervention group. Participants in the intervention group underwent a home-based program for 30 minutes a day, 5 days a week, for 12 weeks. All children were evaluated before starting the intervention, at the end of the intervention, and 9 months later.

The study found that immediately after 3 months of intervention, the children who received it had better verbal memory and visual perception performance. These positive effects found immediately after the intervention did not last for 9 months. Additionally, changes in quality of life and participation were not found after the intervention.

In this study, we described home participation in everyday situations of children with Down syndrome, and their caregiver's desire for change. We investigated frequency (how many times they participate) and involvement (how involved they are during participation). We also explored associations of personal and environmental factors that surround children and their families.

In total, 82 caregivers (mean age = 45 years 10 months) of children and adolescents with Down syndrome (mean age = 10 years 7 months) participated. They were surveyed about the child's home participation and environmental factors using the Participation and Environment Measure-Children and Youth (PEM-CY). Furthermore, information about the children's personal and environmental factors were collected.

Children's participation was highest with regard to personal care management and lowest with regard to school-related activities. Most caregivers desired change in homework and household chores.

There was more home participation for male children, when the caregiver was less rigorous about social distancing due to the COVID-19 pandemic, and when the children were receiving therapies. Increased involvement was associated with younger age in children and higher environmental support. Older age in children was associated with the caregiver's greater desire for change.