Developmental Medicine and Child Neurology最新文献

Aim: To evaluate the effect of a parent-administered sensorimotor intervention (PASI) program on developmental outcomes of infants born preterm during their stay in the neonatal intensive care unit (NICU).

Method: A randomized clinical study was conducted with 94 infants (mean gestational age 31 weeks [SD 2.2 weeks]; 1658 g [SD 478 g]; 49 males, 45 females) initially enrolled and randomly assigned to an experimental or a control group. Infants in the experimental group received a PASI, consisting of tactile input to oral structures, trunk/limbs, and non-nutritive sucking for 15 minutes, once a day, for 10 days. Infants in the control group received standard care. Outcomes included attainment of complete oral feeds, occurrence of direct breastfeeding at hospital discharge, and motor function assessed using the Test of Infant Motor Performance (TIMP).

Results: A total of 80 infants completed the study. Infants in the experimental group achieved complete oral feeds sooner (11.9 [SD 4.3] vs 15.3 [SD 6.5] days, p = 0.013), and a greater number of them received direct breastfeeds (22 vs 12, p = 0.010) than controls. Infants in both groups had equivalent motor functions scores on the TIMP (46.9 [SD 4.8], 46.8 [SD 8.4], p = 0.961).

Interpretation: A PASI program may enhance an infant's oral feeding skills. These findings provide evidence to advocate for the institution of PASI in NICUs.

Aim: To develop standardized diagnostic criteria for 'infection-triggered encephalopathy syndrome (ITES)' and five specific clinical syndromes of ITES.

Method: The draft definitions were based on existing criteria, standardized, and discussed by a panel of international experts using nominal group technique over 18 months to achieve consensus. All criteria use the same format: (1) presence of infection/fever; (2) clinical features including encephalopathy; (3) neuroradiological features on magnetic resonance imaging; (4) exclusion of other causes.

Results: We first highlighted differences between ITES and infectious and autoimmune encephalitis, which is the most important differential diagnosis. Consensus was achieved to define five specific ITESs: acute encephalopathy with biphasic seizures and late reduced diffusion; acute necrotizing encephalopathy; mild encephalopathy with a reversible splenial lesion; acute fulminant cerebral oedema; and acute shock with encephalopathy and multiorgan failure. Two further conditions that are currently classified as epilepsy syndromes but have similar features to ITES, namely febrile infection-related epilepsy syndrome and hemiconvulsion-hemiplegia-epilepsy syndrome, are also discussed.

Interpretation: The consensus definition is expected to improve awareness of this disease concept, provide diagnostic framework, and facilitate future international research and clinical trials.

Aim: To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.

Method: In this retrospective population-based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis.

Results: A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (n = 49, 59%), brainstem signal abnormalities (n = 28, 34%), thinning of the corpus callosum (n = 30, 36%), delayed myelination (n = 11, 13%), and permanent hypomyelination (n = 9, 11%).

Interpretation: Symmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood-onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders.

The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP. We cover studies undertaken to establish the baseline prevalence of monogenic conditions in populations attending CP clinics. We list factors indicating increased likelihood of a genomic diagnosis; and we highlight the need for a comprehensive, accurate, genotype-phenotype reference data set to aid variant interpretation in CP cohorts. We also consider the wider societal implications of genomic management of CP including significance of the diagnostic label, benefits and pitfalls of a genetic diagnosis, logistics, and cost.

Aim: To explore the trajectories of consciousness recovery and prognosis-associated predictors in children with prolonged disorder of consciousness (pDoC).

Method: This single-centre, retrospective, observational cohort involved 134 (87 males, 47 females) children diagnosed with pDoC and hospitalized at the Department of Rehabilitation at the Children's Hospital of Chongqing Medical University in China. The median onset age was 30 (interquartile range [IQR] 18-54) months, with onset ages ranging from 3 to 164 months. Least absolute shrinkage and selection operator (LASSO) regression and logistic regression analyses were performed to identify the independent predictors of consciousness recovery at 1 year after brain injury. Discrimination and calibration were assessed using 1000 bootstrap resamples. The potential predictors of resultant living independence were also explored.

Results: The predictors for consciousness recovery at 1-year postinjury were: traumatic brain injury (odds ratio [OR]: 3.26, 95% confidence interval [95% CI]: 1.21-9.46), electroencephalogram (EEG) grade IV or below based on Young's classification (OR: 3.41, 95% CI: 1.38-8.70), and no bilateral impairments in the basal ganglia (OR: 3.75, 95% CI: 1.50-9.91) or posterior cingulate (OR: 5.61, 95% CI: 2.20-15.54). A nomogram was constructed with the area under the curve of 0.845 (95% CI: 0.780-0.911). Additionally, EEG grade IV or below, and the absence of bilateral impairments in the frontal lobes and occipital lobes were associated with favorable functional outcomes.

Interpretation: These findings underscore the importance of comprehensive early-stage assessments in evaluating consciousness and function, assisting clinicians and families in making clinical decisions.

Aim: To identify neonatal magnetic resonance imaging (MRI) features that predict the likelihood of children with congenital cytomegalovirus (cCMV) developing epilepsy, together with clinical features and a validated MRI scoring system.

Method: This was a retrospective descriptive cohort study of infants with cCMV referred to a paediatric infectious disease centre between April 2012 and March 2022, and followed up for at least 2 years. MRI was performed before 4 months of age and assessed by two paediatric neuroradiologists.

Results: Ninety children with cCMV were included, 46 were female and 44 were male. The median age at MRI was 20 days, (standard deviation = 34, range = 1-200). Seventy-two of 90 children were symptomatic at birth and 7 of 72 developed epilepsy (9.7% of symptomatic infants, 7.8% of total). None of 18 asymptomatic children developed epilepsy. Those with epilepsy were more likely to be symptomatic at birth (100% vs. 76%, p = 0.14) and to have cortical malformations (86% vs. 15%, p < 0.001). Infants with polymicrogyria (PMG) were more likely to develop epilepsy (odds ratio = 35 [3.9-317.1], p < 0.001). A 1-year remission was achieved in three of seven children; four required multiple antiseizure medications without remission.

Interpretation: The strongest correlate of epilepsy development was PMG. Infants with symptomatic cCMV at birth and PMG were more likely to develop epilepsy, and were likely to require one or more antiseizure medications. Parents of infants with cCMV and cortical malformations should be counselled regarding this risk. Including PMG severity in cCMV MRI scoring could improve epilepsy risk prediction.