Developmental Medicine and Child Neurology最新文献

Cranial ultrasound reliably diagnoses many neonatal brain disorders. Adding Doppler imaging expands the spectrum by providing information on the status of the vasculature and haemodynamics that may guide further diagnostic and clinical management. Doppler imaging may identify neonates with congenital or acquired vascular abnormalities such as perinatal stroke, sinuvenous thrombosis, vein of Galen malformation, dural sinus malformation, sinus pericranii, and developmental venous anomaly. These entities may need further investigation with complementary imaging modalities such as magnetic resonance imaging and magnetic resonance angiography, or conventional angiography. This review aims to help clinicians to improve their Doppler sonography knowledge and skills in order to use this helpful tool in neonates with neurological symptoms or suspected cerebral vascular abnormalities admitted to the neonatal intensive care unit.

Aim: To evaluate the mechanosensitivity of muscle satellite cells (MuSCs) and fibro-adipogenic progenitors (FAPs) in cerebral palsy (CP) and the efficacy of the drug verteporfin in restoring cells' regenerative capacity.

Method: Muscle biopsies were collected from six children with CP and six typically developing children. MuSCs and FAPs were isolated and plated on collagen-coated polyacrylamide gels at stiffnesses of 0.2 kPa, 8 kPa, and 25 kPa. Cells were treated with verteporfin to block mechanosensing or with dimethyl sulfoxide as a negative control. MuSC differentiation and FAP activation into myofibroblasts were measured using immunofluorescence staining.

Results: Surprisingly, MuSC differentiation was not affected by stiffness; however, stiff substrates resulted in large myonuclear clustering. Across all stiffnesses, MuSCs from children with CP had less differentiation than those of their typically developing counterparts. FAP activation into myofibroblasts was significantly higher in children with CP than their typically developing peers, but was not affected by stiffness. Verteporfin did not affect differentiation or activation in either cell population, but slightly decreased myonuclear clustering on stiff substrates.

Interpretation: Cells from children with CP were less regenerative and more fibrotic compared to those of their typically developing counterparts, with MuSCs being sensitive to increases in stiffness. Therefore, the mechanosensitivity of MuSCs and FAPs may represent a new target to improve differentiation and activation in CP muscle.

Aim: To expand the phenotypic spectrum of ADGRL1 and explore the correlation between epilepsy and the ADGRL1 genotype.

Method: We performed whole-exome sequencing in a cohort of 115 families (including 195 males and 150 females) with familial febrile seizure or epilepsy with unexplained aetiology. The damaging effects of variants was predicted using protein modelling and multiple in silico tools. All reported patients with ADGRL1 pathogenic variants were analysed.

Results: One new ADGRL1 variant (p.Pro753Leu) was identified in one family with genetic epilepsy with febrile seizures. Further analysis of 12 ADGRL1 variants in 16 patients revealed that six patients had epilepsy. Epilepsy types ranged from early-onset epileptic encephalopathy to genetic epilepsy with febrile seizures plus (GEFS+). All four variants associated with epilepsy were located in the non-helix or sheet region of ADGRL1. Three of the four epilepsy-associated variants were missense variants. Thus, all three variants located in the G-protein-coupled receptor autoproteolytic-inducing domain exhibited epilepsy.

Interpretation: We found one new missense variant of ADGRL1 in one family with GEFS+. ADGRL1 may be a potential candidate or susceptibility gene for epilepsy. ADGRL1-associated epilepsy ranged from benign GEFS+ to severe epileptic encephalopathy; the genotypes and variant locations may help explain the phenotypic heterogeneity of patients with the ADGRL1 variant.

Children with special needs have physical, attentional, cognitive, learning, adaptive difficulties, or behavioral problems. These children often exhibit a high prevalence and various types of visual dysfunction, and may not be able to complete the regular visual assessment. Therefore, their visual difficulties would not be identified or would be underestimated. The aim of our study was to develop and validate a new visual function battery, the Visual Function Battery for Children with Special Needs (VFB-CSN), to meet the special needs and to quantify the heterogeneous visual characteristics and abilities of these children.

This was a scale development and validation study. The construct and item generation were based on the special needs of these children. The visual problems of these children are not limited to visual acuity. Thus, the VFB-CSN included the categories of visual reflex, ocular muscle balance, visual acuity, oculomotor, visual field, contrast sensitivity, color and form vision, and visual attention. The importance of the VFB-CSN was to introduce functional approaches to visual assessment. It is important for those children who could not cooperate with standardized visual tests. For example, in the contrast sensitivity subscale, we designed three functional items to assess visual responses to high or low contrast objects. In addition, in the visual acuity subscale, response to light or detection of different sizes of Styrofoam balls were included to assess the visual performance of children with severe or profound visual impairment. The item-weighted scoring system was established. The inter-rater reliability and multiple validities of the VFB-CSB were well evaluated.

Aim: To evaluate the efficacy of the Akwenda Intervention Program on motor, self-care, and social function of children and young people with cerebral palsy (CP).

Method: This was a cluster-randomized, controlled, single-blinded, intervention study of 100 participants with CP (2-23 years; 52 males) in rural eastern Uganda. Half were allocated to the intervention program, the remainder served as waitlist controls. Gross Motor Function Measure-66 (GMFM-66) and the Ugandan version of Pediatric Evaluation of Disability Inventory (PEDI-UG) were collected before group allocation and after intervention. General linear models and t-tests were used to compare changes within and between groups. Cohen's d estimated the effect size of group differences. Change scores were evaluated by age and mobility subgroups.

Results: Significant group by time interactions were found for GMFM-66 (p =0.003) and PEDI-UG outcomes (p <0.001), except mobility, with the intervention group demonstrating greater changes. Both groups increased their scores on the GMFM-66 and child PEDI-UG, while only the intervention group had significant increases in caregiver assistance scores and across all age and mobility subgroups. Cohen's d showed large effect sizes (d >0.8) of differences for PEDI-UG outcomes except mobility.

Interpretation: The Akwenda Intervention Program had a large positive impact on functioning and activity across age and mobility levels.

Epileptic spasms is a particular type of seizure that occurs most commonly in the first year of life. The infant appears to bend their hips and knees with outstretched arms and drops their head. Each event lasts around 1 to 2 seconds. These tend to occur in close succession to one another, usually when the infant is about to fall asleep or upon awakening. The infant is often very distressed by these events. These seizures may be associated with a delay in development or a loss of developmental milestones. Recognition of this type of seizure is often delayed in our setting and frequently mistaken for colic. It is very important if you notice these seizures in your child to take your child to your nearest healthcare facility immediately, as the sooner these seizures are treated, the better the overall developmental outcome.

The most common cause of this seizure type in southern Africa is brain injury around the time of birth or abnormalities in the formation of the brain itself during early pregnancy. Seizures are treatable with oral (and sometimes an injectable) medication, however, infants would need to be admitted to hospital for a few days to ensure the infant does not experience any side effects of treatment such as lethargy or excessive irritability. One of these treatments is a form of corticosteroids, which may suppress the immune system so underlying infections (such as tuberculosis) should be excluded beforehand. During the hospital admission, an electroencephalogram (EEG) (a painless test where stickers will be placed on the child's head so that the electrical activity in the brain can be recorded) will be performed.

This scoping review provides an overview of longitudinal studies on the development of children, adolescents, and young adults with cerebral palsy (CP). It aimed to describe the developmental outcomes according to the components of the World Health Organization's International Classification of Functioning, Disability, and Health (ICF).

Longitudinal studies look at the same people over time. Studies exploring the development of children, adolescents, and/or young adults with CP were included in this scoping review. Several databases (MEDLINE, PubMed, LILACS, EMBASE, Cochrane, CINAHL, Scopus) were searched for papers published between 2002 and 2022. All outcome measures related to development were classified into ICF components.

The 56 studies included 19 438 participants, mainly children, followed by adolescents, and lastly young adults. All components of the ICF were investigated; many studies reported outcomes in more than one component. Activity was the most investigated (67.9%; n = 38 studies), followed by body functions and structures (42.9%; n = 24 studies). Participation (14.2%; n = 8 studies) and environmental factors (3.6%; n = 2 studies) were the least studied. None of the studies investigated personal factors as an outcome.

With music as a metaphor for consciousness, the thalamus has been called ‘the conductor’ of the orchestra in the brain, and the network activities of the cerebral cortex as the musicians. Detailed description of the impact of neonatal focal thalamic injury on neurodevelopment is still lacking. This paper aims to understand that relationship better, envisaging neuroprotection based on thalamocortical plasticity, the ability of the brain to reorganize itself by forming new neuronal connections. Neuroprotection refers to therapies used to defend the central nervous system against injury due to neurodegenerative disorders (e.g. trauma, epilepsy, etc.). We gathered information from a search and cross-referencing of the scientific literature, personal observations, and detailed study of neuroimaging.

In newborn infants, the thalamus already contributes to visual, auditory, and pain processing, and to arousal and sleep. Isolated thalamic lesions may present with clinical seizures. Cranial ultrasound can then be used to classify neonatal thalamic injuries. Asphyxia, stroke, infection, and network injury are all common. Experimental work suggests that adaptation to injury, so-called plasticity, in thalamocortical interaction may differ before and after 30 weeks postmenstrual age in newborn infants. It is very likely that plasticity may not provide complete repair given the timing and extent of damage.

The long-term effects of many focal lesions in the thalamus are still unknown. Given early nuclear organization and thalamocortical maturation before 30 weeks postmenstrual age, the effect of even small lesions is most likely underestimated. On the other hand, very little is known about possible adaptive capabilities of the neonatal thalamus. Cranial ultrasound at least offers the ability to locate lesions in the major regions of the thalamus and to compare ultrasound patterns with causal mechanisms.

This study investigated how specific genetic mutations in the CASK gene are associated with a condition known as microcephaly with pontine and cerebellar hypoplasia (MICPCH), which affects the size of the head and certain parts of the brain. The researchers aimed to determine if signs of this condition could be identified before birth.

The researchers collected data from 49 patients, primarily sourcing information from a CASK parents' social media group and colleagues specializing in cerebellar malformations. They discovered that 59% of the fetuses exhibited smaller-than-average head circumferences before birth, with 76% displaying a decrease in head circumference growth rate during pregnancy. At birth, nearly half of the babies had head circumferences below the 2nd percentile.

Furthermore, 41% of the fetuses had below-average measurements for the cerebellum, indicating that signs of this condition can indeed manifest before birth.

The study suggests that current methods for routine fetal brain assessments may not effectively detect most cases of this condition. Therefore, the researchers recommend regular monitoring of head circumference growth and genetic testing if there are indications of growth deceleration or abnormalities in cerebellar measurements.