Developmental Medicine and Child Neurology最新文献

Genetic white matter disorders (GWMDs) consist of a large and heterogeneous group of diseases affecting the white matter (WM) of the central nervous system. Brain magnetic resonance imaging (MRI) is an important diagnostic tool for these diseases, since it is highly sensitive in detecting WM abnormalities within brain tissue. GWMDs often present unique signal abnormality patterns in brain MRI leading to correct diagnosis. Several specific imaging patterns have been discovered and reported to improve radiological diagnostics among these rare diseases. When GWMDs are suspected, careful brain MRI interpretation may guide further investigation methods such as exome or genome sequencing to establish correct diagnosis.

The aim of this study was to describe specific brain MRI patterns of these rare diseases in a distinct population of Northern Finland. The study was conducted at Oulu University Hospital in Northern Finland, and it included all paediatric patients with MRI data diagnosed with a known GWMD or genetic disorder associated with brain WM signal abnormalities in this tertiary care centre from 1990 to 2019. In the final analysis, 83 patients with genetically confirmed diagnoses were included in the cohort and the brain MRIs of the patients were interpreted. A total of 52 different GWMDs were encountered, and their brain imaging findings were reported.

Based on the radiological analysis and imaging patterns we provided an updated tool for radiologists to analyse brain MRIs of genetic disorders. We also found that delayed myelination and permanent hypomyelination were uncommon in genetic brain disorders. Our cohort also included a few recently described GWMDs and their imaging patterns were reported and illustrated.

Infant movements help us understand the health of a child's nervous system and later cognitive development. Lags in early motor development, often noted after preterm birth, predict outcomes and specific disorders. Relying on repeated time-consuming assessments in the clinic to monitor development is not possible in many places. Caregiver-completed developmental screening tests can be used to monitor early development but the available tests for infants have limitations, including the inability to measure rate of motor growth over time, rather than just screen for delays.

This longitudinal study examined the ability of the PediaTrac motor scale, based on 571 caregivers' online ratings, to detect differences in the development of infants born at term (58%) or preterm (42%). PediaTrac Motor scores measure motor ability as a trait, in a manner that is different from methods used in other developmental tests and is not simply screening for achievement of milestones.

Continuity of care is an important measure of health care quality. It shows how much care is provided by the same healthcare professional or team. This research study from Australia looked at continuity of care provided by hospital outpatient services for children and young people with cerebral palsy (CP).

The study included 3267 children and young people with CP, born between 1994 and 2018, identified from the New South Wales/Australian Capital Territory Cerebral Palsy Register. It examined their outpatient visits and assessed whether these visits were linked to unplanned hospital care (emergency department visits and unplanned hospital admissions) from 2015 to 2020.

Nearly all children with cerebral palsy (CP) have an MRI scan of the brain to identify or confirm the cause of their CP. The Victorian Cerebral Palsy Register has brain MRI data on nearly all persons with CP who were born in the Australian state of Victoria since 1999. Scans are classified into six main patterns. For this study, we used information from the Register on 1348 persons who were born from 35 weeks' gestation, that is, born full term or up to 5 weeks preterm.

First, we looked at how features of their CP differed across the MRI scan patterns. Second, we determined the health and wellbeing of the person as a newborn baby, including their condition immediately after birth and whether they were admitted to a neonatal intensive care unit. We found that a little over half (57%) of the cohort had health concerns during the newborn period. We related their wellbeing during the newborn period to their MRI scan patterns. Lastly, we developed a formula to establish the probable timing of the brain injury. We estimated that the timing was before birth in 57% of persons and around the time of birth in another 41%. We observed a decrease over time in the proportion of the cohort where the brain injury occurred around the time of birth. The pattern of brain injury on MRI scans often provided useful information about the probable timing and mechanism of the brain injury.

As a result of this study, we can better appreciate the contribution of different mechanisms and timings of brain injury within a large CP cohort. The knowledge gained will help us understand how the various causes of CP change over time and whether different strategies to help prevent CP have been successful.

In this project, we wanted to find the most important unanswered questions about treatments, or therapies for children and young people with childhood neurological conditions such as epilepsies, cerebral palsy, and many rare conditions. This is called a Priority Setting Partnership.

Priority Setting Partnerships aim to help patients, carers, and health professionals work together to agree research priorities. There is a structured way to do this. It includes two surveys, the first to ask people questions that they may have about childhood neurological conditions. Then, after a team of professionals have reviewed the questions, and checked if they are answered, another survey asks people to choose their 10 highest priority questions. After many people have ranked the questions, the highest-ranking questions are discussed in a workshop to choose the top 10.

People were invited to do the surveys via charities, clinical services, and social media. In total 701 people completed survey one and they had 1800 questions. After removing repeats, grouping them, then checking medical evidence, there were 44 research priorities. In survey two, 1451 people selected their top 10 questions. Over three-quarters of both survey responders were parent-carers or young people with childhood neurological conditions. When everyone's priorities were combined the top 26 were chosen. They were discussed at a workshop with 14 healthcare professionals, 11 parent-carers, and 2 young people; and the top 10 priorities were agreed.

The 10 priority questions include: therapies, medications and treatments for rare and common childhood neurological conditions, and supporting the challenges that young people with many different childhood neurological conditions may have e.g. sleep difficulties, supporting emotional wellbeing, and managing symptoms like pain.

Personalized interventions to enhance participation in meaningful activities in everyday environments are recommended for young people with physical disabilities. Pathways and Resources for Engagement and Participation (PREP) is one such intervention, focusing on changing the environment (e.g. inaccessibility, limited social support, lack of availability of programs) and coaching young people/parents and community members on removing environmental barriers.

Children with cerebral palsy (CP) face challenges in controlling the position of their feet and legs, which can limit balance in standing and walking. These challenges with foot and leg positioning also limit speed of walking and participation in everyday activities, like playing with friends or engaging in sports. A common treatment to improve balance in standing and walking is to use plastic ankle foot braces.

This research study compared a typical solid plastic brace with standard alignment worn with regular shoes, to a rigid plastic brace with alignment individualized to the specific needs of the child with shoes adapted to further improve balance. These two treatments were tested in 19 children with CP, ages 6 to 11 years. Four of the children who participated in the study walked with a reverse or posterior walker (pulled from behind), while the others did not use a walker. Children were assigned to wear one of the treatments for 3 months based on a coin flip, with half of the children wearing the typical solid braces with standard alignment and regular shoes and the other half wearing the rigid plastic braces with individualized alignment and adapted shoes. The children's balance was evaluated at the start and end of 3 months. The rigid plastic braces with individualized alignment and adapted shoes effected a greater change in balance and daily walking mobility at 3 months. There was no difference in the number of comfort or skin issues reported between the two treatment groups.

These results suggest that the rigid plastic braces with individualized alignment and adapted shoes may be a worthwhile treatment for helping children with CP have better balance during standing and walking, enabling them to have greater participation in everyday activities.

Aim: To find proof-of-principle evidence for short-term treatment with lamotrigine to improve cognitive functioning of adolescents with neurofibromatosis type 1 (NF1).

Method: This was a double-blind, parallel-group, randomized, placebo-controlled clinical trial (the NF1-EXCEL trial: Examining the Cognitive and Electrophysiological benefit of Lamotrigine in Neurofibromatosis type 1; Clinicaltrials.gov identifier NCT02256124), with the aim of enrolling 60 adolescents with NF1 aged 12 to 17  years 6 months. The short-term study intervention was 200 mg of lamotrigine taken orally for 26 weeks. The primary outcome was performance IQ tested with the Wechsler Intelligence Scale for Children, Third Edition, complemented with secondary outcomes for visuospatial learning efficacy, visual perception, visual sustained attention, fine motor coordination, attention-deficit/hyperactivity problems, and executive functioning.

Results: We screened 402 adolescents with NF1, of whom 31 (eight females) entered the study. Complete-case analysis showed no effect of lamotrigine on either performance IQ (-0.23, 95% CI -6.90 to 6.44) or most secondary outcomes. Visual sustained attention showed a trend towards better performance in the lamotrigine group (-0.81, 95% CI -1.67 to 0.04).

Interpretation: Lamotrigine did not improve cognitive functioning in adolescents with NF1. The small treatment effects make it unlikely that a larger sample size could have changed this conclusion.