Developmental Medicine and Child Neurology最新文献

This article focuses on the importance of providing sexual and reproductive health education to individuals with myelomeningocele, the most severe form of spina bifida. Myelomeningocele is caused by a defect to the developing brain and spine that results in damage to the spinal cord and nerves. This lifelong condition is associated with a wide range of disease severity, it is not always clear to patients how their disabilities may affect their reproductive and sexual health.

A survey was designed to assess the rate of sexual and reproductive health discussions occurring in a multidisciplinary myelomeningocele clinic at a freestanding pediatric hospital.

The authors highlight that individuals with this condition often face unique challenges related to their sexual and reproductive health due to physical and neurological issues. These challenges can include mobility limitations, bowel and bladder control problems, and potential fertility concerns. Despite these issues, there is a lack of comprehensive sexual health education tailored for these patients.

The article emphasizes the need for healthcare providers to address these topics openly and sensitively. It suggests that educating patients about their sexual health is crucial for improving their quality of life and fostering healthy relationships. The authors recommend developing specific educational programs that cover a range of topics, including anatomy, contraception, sexually transmitted infections, and healthy relationships.

Additionally, the article calls for healthcare professionals to create a safe and supportive environment for patients to ask questions and express their concerns. It stresses that sexual health education should not only be about physical health but also include emotional and social aspects, empowering individuals to make informed decisions about their bodies and relationships.

Malformations of cortical development (MCDs) are a group of disorders where the brain's outer layer, the cerebral cortex, does not develop as expected. These conditions can usually be identified using imaging techniques, but some subtle issues, like focal cortical dysplasia (an area of abnormal brain cell [neuron] organization and development), may only be found through more detailed brain tissue examination.

MCDs include different types, such as lissencephaly (smooth brain), heterotopia (misplaced brain tissue), cobblestone malformation, polymicrogyria (too many small folds), and dysgyria (abnormal folds). Many MCDs are caused by genetic factors, but some can also result from conditions like congenital cytomegalovirus infections or factors related to twinning.

Hypoxic–ischemic encephalopathy (HIE) is a neurological condition that is caused by insufficient oxygen and blood flow to a newborn infant's brain. In some instances it can lead to death or permanent brain damage. Although therapeutic hypothermia, or cooling therapy, can reduce the degree of brain injury in some infants with HIE, many infants with HIE will have significant lifelong disabilities despite receiving this treatment. Several promising novel neuroprotective agents are under clinical investigation in infants with HIE.

Aim: To compare the device-measured physical activity behaviours of preschool children with typical motor development to those with probable developmental coordination disorder (pDCD) and at risk for developmental coordination disorder (DCDr).

Method: A total of 497 preschool children (4-5 years) in the Coordination and Activity Tracking in CHildren (CATCH) study completed repeated motor assessments and wore an ActiGraph GT3X on the right hip at baseline for 1 week. We calculated physical activity metrics from raw accelerometer data using a validated random forest classification machine learning model for preschool-age children. Analysis of variance (ANOVA) and linear regression models compared physical activity between typically developing children, children at risk for DCDr, and those with pDCD identified based on motor scores at baseline and averaged over time, accounting for age, sex, and accelerometer wear time.

Results: We found no differences in daily time spent sedentary, in light physical activity, or moderate-to-vigorous physical activity between typically developing children, children at risk for DCDr, and those with pDCD. However, children in the DCD groups spent less time doing ambulatory activities (walking/running) than typically developing children. Analysis of variance: baseline classification, DCDr to typically developing, run: F = 5.34, p = 0.005, classification averaged over time, DCDr to typically developing, walk: F = 5.82, p = 0.003. Regressions: DCDr compared to typically developing for walk: B = -3.47 (standard error 1.05), p < 0.001, pDCD compared to typically developing for run: B = -1.82 (standard error 0.62), p = 0.004.

Interpretation: Designing interventions for preschool children with motor difficulties targeting specific physical activity types (walk/run) may help mitigate physical activity intensity differences observed later in childhood.

Children with unilateral cerebral palsy (CP), a motor disability affecting one side of the body, often experience difficulties in visual functions. Yet, impairments in visual functions are understudied. In this study, the authors compared different visual functions between 50 children with left and right unilateral CP, aged 7 to 15 years, and 50 children of the same age and sex without CP. They also studied how children with CP use their vision in everyday activities.

The authors measured visual functions with different tests targeting how well children could see fine details, perceive 3D images, recognize a figure between different options, and combine vision and motor skills in drawing a copy of several images. In addition, for children with CP, parents completed a questionnaire about how their child uses vision in everyday activities. The authors compared the results of visual function tests between children with left unilateral CP, right unilateral CP, and neurotypical peers. In children with CP, they also investigated the relation between the visual function test results and the questionnaire scores.

In general, children with unilateral CP, particularly those with more severe motor impairments, had more difficulties in visual functions compared to their peers. Only children with left unilateral CP struggled more in perceiving 3D images compared to peers. Both groups of children with CP (left and right unilateral CP) scored lower in the test where they had to recognize a figure and draw a copy of several images. The authors also found that children with CP with more difficulties in perceiving 3D images and lower scores on the figure recognition test experienced less interest and higher anxiety in everyday activities.

Aim: To extend the findings of a previous clinical trial suggesting combined abacavir (ABC), lamivudine (3TC), and zidovudine (AZT) reduces type I interferon (IFN) signalling in Aicardi-Goutières syndrome (AGS).

Method: This was an open label, non-placebo-controlled phase II clinical trial (NCT04731103) in patients less than 16 years with any of five AGS genotypes. The effect of ABC or 3TC individually, or of combined ABC + 3TC + AZT, on IFN-stimulated gene (ISG) expression (primary outcome) and IFN-alpha protein (secondary outcome) in blood was assessed.

Results: Thirteen patients were recruited. Compliance was poor in the ABC + 3TC + AZT arm. No statistically significant effects were observed with ABC or 3TC, or with ABC + 3TC + AZT over 6 weeks. A statistically significant reduction of ISG expression was recorded after 3 weeks of ABC + 3TC + AZT, which was not mirrored by changes in IFN-alpha protein.

Interpretation: There is insufficient evidence that ABC or 3TC is either effective or ineffective in reducing type I IFN signalling in AGS over 6 weeks. The effect of ABC + 3TC + AZT at 3 weeks supports data from a previous clinical trial of the effect of ABC + 3TC + AZT in reducing type I IFN signalling, although there was insufficient evidence of an effect at 6 weeks. Time to local research and development (R&D) approval, and to sponsor authorization after R&D approval, severely limited patient recruitment.

Aim: To identify the short-term effects of selective dorsal rhizotomy (SDR) on gait and clinical impairments in children with bilateral spastic cerebral palsy (CP) and subgroups based on baseline gait patterns.

Method: Eighty-nine children with bilateral spastic CP (55 males, mean age [SD] before SDR: 9 years 5 months [2 years 3 months]; Gross Motor Function Classification System level I: 18; II: 54; III: 17) received three-dimensional gait analyses at two time points (baseline and 1 year after SDR); their baseline gait patterns were classified. The analysis included the comparisons of (1) sagittal plane kinematic waveforms, the Gait Profile Score, and non-dimensional spatiotemporal parameters between the two time points, (2) the kinematic waveforms of both time points to those of typically developing children, and (3) composite impairment scores of spasticity, weakness, and selectivity between the two time points.

Results: Overall, kinematics improved distally but deteriorated proximally in the entire sample, especially in genu recurvatum and crouch gait patterns. Jump gait showed the most improvements after SDR, followed by apparent equinus and crouch gait. Spasticity was reduced after SDR, but not at the expense of strength or selectivity.

Interpretation: The potential merit of investigating short-term SDR effects on gait according to baseline gait patterns was shown, with an overview of changes after SDR that may facilitate patient-tailored treatment.

Aim: To explore parents' experiences of early screening for cerebral palsy (CP) in three Australian states.

Method: This is a qualitative description study using semi-structured interviews. Participants were parents of children who had CP (n = 5), or high risk of CP (n = 10), or no CP (n = 11) at 2 years, and had completed early screening for CP. Data were analysed using reflexive thematic analysis.

Results: Three themes describe parents' experiences of early screening. (1) 'A new, destabilized world' explores how parents are thrown into an unexpected parenting pathway with the birth of an infant at high risk of having developmental challenges. (2) 'Early is best … but not easy' explores parents' desire for information, screening, and developmental support, to be delivered as early as possible, even when this was experienced as emotionally challenging. (3) 'Trying to reach stable ground' describes the resources and actions parents used to move forward and reach a place of stability and control. These included access to knowledge, proactive 'next steps', and supportive relationships with health-care professionals.

Interpretation: Parents valued and desired early information and support for their child regardless of a diagnosis of CP. Early screening was most valued when it was clearly associated with practical supports, such as early intervention and access to funding.

Cerebral palsy (CP) is the most common physical disability in children. CP makes it hard for children to move and be independent. Many children with CP struggle to move their arms and hands. Good therapies for CP can improve movement and brain function, but they can take a lot of time and be costly. Non-invasive brain stimulation (NIBS) might improve function more quickly and effectively. NIBS uses magnetic (repetitive transcranial magnetic stimulation, or rTMS) or electrical (transcranial direct current stimulation, or tDCS) forces to help the brain communicate better with the muscles.

This study looked at whether rTMS and tDCS are safe for children with CP and if they can help with arm and hand movement. The researchers thoroughly reviewed all the studies published on these questions and found 19 relevant ones. They found that NIBS is safe for children with CP. However, they also found that rTMS and tDCS probably do not change arm and hand function and activity.