Search Results (105)

Objectives: The increasing use of fetal MRI has increased the diagnosis of posterior fossa malformations, yet the long-term neurodevelopmental outcomes of affected fetuses remain unclear. This study aims to examine the long-term neurodevelopmental outcomes of fetuses with structural posterior fossa malformation diagnosed on fetal MRI. Methods: A historical cohort study was conducted at a single tertiary referral center, including fetuses diagnosed with structural posterior fossa malformations and apparently healthy fetuses who underwent fetal brain MRI between 2011 and 2019. Maternal, pregnancy, and newborn characteristics were compared between groups, alongside long-term neurodevelopmental outcomes using the Vineland Adaptive Behavior Scales II (VABS-II) questionnaire. This included an extensive assessment of malformation types, additional structural, genetic, or neurodevelopmental anomalies, and outcomes. Results: A total of 126 fetuses met the inclusion criteria, of which 70 were apparently healthy fetuses, and 56 had structural posterior fossa malformations. Among the latter, 18 pregnancies were terminated, 4 resulted in neonatal death, and 11 were lost to follow-up. No significant differences were found in the overall neurodevelopmental outcomes between fetuses with structural posterior fossa malformation (93.4 ± 19.0) and apparently healthy fetuses (99.8 ± 13.8). Motor skills scores were lower among fetuses with structural posterior fossa malformations (87.7 ± 16.5 vs. 99.3 ± 17.2, p = 0.01) but remained within the normal range. Conclusion: Fetuses with structural posterior fossa malformations may exhibit normal long-term neurodevelopmental outcomes if no additional anomalies are detected during thorough prenatal screening that includes proper sonographic, biochemical and genetic screening, as well as fetal MRI. Further research with larger cohorts and longer-term assessments is recommended to validate these findings and support clinical decision-making. Full article

Background and objectives: Neurosurgical intervention on the newborn’s developing brain is a risk factor for neurodevelopmental disorders (NDDs). These patients necessarily require regular, coordinated follow-up. The ventricular subgaleal shunt (VSGS) technique has been used since 2013 at Rouen University Hospital. Like any change in practice, this technique must be evaluated. In this paper, we describe the population of patients with hydrocephalus treated by VSGS, the complications associated with the procedure, and the outcome of these patients at two and six years old. Methods: This study was an observational, descriptive, retrospective, single-center study. Children included were those less than three months old with hydrocephalus treated by VSGS at Rouen University Hospital from January 2013 to December 2023. Data were anonymized and collected using EDSaN software. A descriptive analysis was performed. Results: Thirty-two patients were included in our study. Of these, 22 (69%) were born prematurely; 16 (50%) of these 22 had postnatal intraventricular hemorrhage (IVH) requiring treatment with VSGS. A total of three patients (13.6%) died within the first year of life; twenty-four patients (75%) required definitive shunting. Twenty-two patients were over 2 years old in our study. Only 10 of them acquired the ability to walk (45%). Cerebral palsy was present in 10 (45%) patients. Fifteen patients were over 6 years old; thirteen (87%) attended school, but six (40%) had special needs (the need of an assistant, or part-time schedule). In our study, only 24 patients (82%) were followed by a pediatrician trained in neurodevelopment at Rouen University Hospital, and 27 (93%) were followed by a neurosurgeon. Conclusions: This study describes all patients with hydrocephalus treated by VSGS at Rouen University Hospital between January 2013 and December 2023, as well as their complications and their neurological outcomes. The follow-up of these children at risk of NDDs is essential. Full article

Prognostication of neurodevelopmental outcomes for neonates with hypoxic–ischemic encephalopathy (HIE) is primarily reliant on structural assessment using conventional brain magnetic resonance imaging in the clinical setting. Diffuse optical tomography (DOT) can provide complementary information on brain function at the bedside, further enhancing prognostic accuracy. The predictive accuracy and generalizability of DOT-based neuroimaging markers are unknown. This study aims to test the feasibility of prospectively recruiting and retaining neonates for 12 months in a larger study that investigates the prognostic utility of DOT-based biomarkers of HIE. The study will recruit 25 neonates with HIE over one year and follow them beyond NICU discharge at 6 and 12 months of age. Study subjects will undergo resting-state DOT measurement within 7 days of life for a 30–45-min period without sedation. A customized neonatal cap with 10 sources and eight detectors per side will be used to quantify cortical functional connectivity and to generate brain networks using MATLAB-based software (version 24.2). The Ages and Stages Questionnaires—3rd edition will be used for standardized developmental assessments at follow-up. This feasibility study will help refine the design and sample-size calculation for an adequately powered larger study that determines the clinical utility of DOT-based neuroimaging in perinatal brain injury. Full article

Human parechoviruses, officially known as Parechovirus A (PeV-A), are more frequently reported as a significant cause of serious infections in newborns and young infants. We aimed to describe the clinical features and neurological outcomes of PeV-A encephalitis cases identified in Warsaw. Infants with suspected encephalitis were retrospectively identified in three hospitals in the summer of 2022. Cases of confirmed PeV-A infection had their comprehensive demographic, clinical, laboratory, imaging, and outcome data reviewed. The psychomotor development of the children up to the age of 2 years was assessed by using the standardized tools. We identified 18 cases of confirmed encephalitis with a PeV-A infection. Their median age was 16 days. Fourteen cases were included in the analysis, while one patient dropped out after the first visit. Most were boys (9/14), and one patient was born preterm. Three patients had white matter alterations on brain MRI at discharge. No significant neurologic sequelae were observed after acute illness. At the 24-month follow-up, based on the Bayley Scales of Infant and Toddler Development (BSID-IV) and the Brunet–Lézine Scale, the children showed no neurodevelopmental sequelae. Brain MRIs were obtained in all of the participants up to 12 months of age and revealed no significant lesions. Neurodevelopmental complications are not frequent in children after PeV-A encephalitis at 24 months of age. Continued follow-up in larger cohorts is needed to explore the predictors of long-term morbidity. Full article

Research on late preterm infants is limited compared with extremely low birth weight infants, despite their vulnerability to brain injury. Early intervention is crucial, as these infants often face higher risks of cerebral palsy and developmental delays. This review examines methods to predict neurological outcomes and evaluates standard care protocols for neurologically affected late preterm infants. It also explores the potential for developing a comprehensive care bundle that integrates family involvement and delineates the responsibilities for continuous developmental monitoring. A total of 21 studies, primarily cohort studies, were included. This review synthesizes recent research on neurological development in late preterm infants, highlighting key markers and methods to improve neurological monitoring and long-term outcomes. Late preterm infants are at an increased risk for neurodevelopmental impairments, such as cerebral palsy and cognitive delays, particularly when growth restrictions or low birth weight are present. Early interventions, including specialized neurological assessments and targeted rehabilitation, show potential for improving these outcomes. Late preterm infants face increased neurodevelopmental risks despite low perinatal mortality. Early identification, standardized assessments, and targeted follow-up are essential. Emerging interventions show promise, but further research and equitable care access are needed to improve long-term outcomes. Full article

Background/Objectives: Students with specific learning disorders (SLDs) are at increased risk for emotional and academic difficulties. While teacher characteristics can influence student outcomes, few studies have examined the role of teacher personality in supporting students with SLDs. This study investigated whether teacher personality traits predicted student emotional well-being and academic achievement in a school-based intervention context. Methods: Participants were 64 students with SLDs (Mage = 13.28) nested within 21 teachers. Students completed measures of emotional well-being at baseline and post-intervention, and grade point average (GPA) was obtained from school records at the end of the school year. Teachers completed the Big Five Inventory mid-intervention. Two-level multilevel models were conducted in Mplus using maximum likelihood estimation with robust standard errors (MLR). The models controlled for student and teacher demographics, baseline emotional well-being, and the intervention group. Missing data were addressed using full information maximum likelihood (FIML). Results: Teacher female sex, higher neuroticism, and lower teaching experience were associated with higher student emotional well-being post-intervention. Follow-up analyses confirmed that teacher sex, neuroticism, and conscientiousness each explained substantial between-teacher variance. In the GPA model, student sex and teacher openness were significant predictors, with female students and students taught by more open teachers earning higher GPAs. Conclusions: Teacher personality traits, specifically neuroticism, conscientiousness, and openness, were associated with emotional and academic outcomes among students with SLDs. The findings highlight the importance of considering teacher characteristics in designing school-based interventions to support the development of learners with SLDs or other neurodevelopmental disorders. Full article

Congenital Rubella Syndrome (CRS) results from maternal infection with the rubella virus during pregnancy, particularly in the first trimester, when the risk of vertical transmission and severe fetal damage is highest. CRS is characterized by a broad spectrum of congenital anomalies, including sensorineural hearing loss, congenital heart defects, cataracts, neurodevelopmental delay, and behavioral disorders. Despite the absence of specific antiviral therapies, active immunization remains the only effective strategy to prevent rubella infection and its congenital consequences. Global immunization efforts, particularly in the Americas, have led to the elimination of rubella and CRS in several countries. However, challenges persist in the post-elimination era, including declining vaccine coverage, vaccine hesitancy, and setbacks caused by the COVID-19 pandemic. Diagnosis relies on maternal serology, fetal imaging, postnatal antibody testing, and molecular techniques. Management requires long-term, multidisciplinary follow-up due to the complex and lifelong sequelae affecting sensory, motor, and cognitive development. This review highlights the clinical, epidemiological, and pathophysiological aspects of CRS, while emphasizing the urgent need to maintain high vaccination coverage and strengthen surveillance systems. Sustained public health commitment is essential to prevent the reemergence of rubella and protect future generations from this preventable syndrome. Full article

Background/Objectives: Psychotropic medications are often prescribed to treat challenging behavior in children with neurodevelopmental disorders. This study examined patterns of psychotropic medication use following outpatient behavioral assessment and treatment in children ages 2–16 years. Methods: Medication use at the time of behavioral assessments, six months after the assessment, and a later follow-up time point (mean 25 months following the six-month time point, range 1 month to 41 months) were evaluated via a chart review. Alterations in psychotropic medication use were grouped into eight categories according to the type of medication change experienced. Care providers also completed a social validity survey rating their satisfaction with the assessment and interventions developed for their child. Results: This retrospective study revealed that children in this sample were more likely to experience starting a new medication and increases in the dose of psychotropic medication as time passed. Children were also less likely to remain on the same regimen of psychotropic medication as when they were first seen in the clinic. Additionally, although caregivers generally rated their experiences and outcomes with the behavioral clinic as favorable, additions and increases to psychotropic medication regimens still occurred. Conclusions: These findings are consistent with other reports of continued and increased prescribing of psychotropic medication across time in children with neurodevelopmental disorders, however, the results must be interpreted with caution given the small sample size which limits generalizability of these findings. Additionally, the lack of follow-up with the patients in this sample made it difficult to correlate changes in challenging behavior with psychotropic medication prescribing. Full article

Background: Monochorionic diamniotic (MCDA) twin pregnancies are at risk of complications, particularly selective intrauterine growth restriction. The objective of this study was to evaluate the two-year neurologic outcomes of the eutrophic newborns from monochorionic diamniotic twin pregnancies who were complicated by selective intrauterine growth restriction, compared to newborns from uncomplicated MCDA pregnancies. Our hypothesis was to determine whether selective IUGR in these pregnancies was specifically associated with a risk of delayed psychomotor development at two years old. Methods: We conducted a retrospective–prospective observational cohort study of children from pregnancies and deliveries which were monitored at Hospital Nord of Marseille between 2012 and 2021. The primary outcome measure was the comparison of the Ages and Stages Questionnaire (ASQ) scores at the age of two years between the two groups. The secondary outcome measure was a composite score including the following: neonatal death, grade III or IV intraventricular hemorrhage (IVH) at cerebral MRI or cranial ultrasound, periventricular leucomalacia (PVL) at brain MRI, bronchopulmonary dysplasia (BPD), and necrotizing enterocolitis (NEC) of stages II or III. Results: A total of 57 eutrophic children were included in the group from monochorionic twin pregnancies complicated by selective IUGR and 270 children in the group from MCDA twin pregnancies with no complications. The composite morbidity and mortality criterion, including neonatal death, grade III or IV IVH, the presence of PVL, BPD, and/or stage II or III NEC, was 11% in eutrophic newborns from the MCDA group with IUGR and 5% in the uncomplicated MCDA group, with no statistically significant difference (p = 0.18). The 2-year follow-up allowed for the comparison of a total of 38 eutrophic children from complicated pregnancies and 134 children from uncomplicated pregnancies. The median ASQ score at 24 months was 255 in the complicated pregnancy group and 240 in the uncomplicated pregnancy group, with no statistically significant difference (p = 0.27) after adjustment. Conclusions: Our study did not show a statistically significant difference in the neurodevelopmental follow-up of eutrophic children from monochorionic diamniotic twin pregnancies with selective intrauterine growth restriction compared to newborns from the same pregnancies without complications. Full article

Congenital cytomegalovirus infection is the most common congenital infection worldwide and an important cause of neurodevelopmental delay and sensorineural hearing loss. Neuroimaging represents the best prognostic marker in cCMV infection. The aim of this study was to establish the role of cranial ultrasound and brain magnetic resonance imaging in the development of long-term sequelae in symptomatic and asymptomatic children with cCMV infection. Of the 47 children enrolled in the study, 25 (53.1%) were classified as symptomatic at birth. In 27/47 patients, SNHL was diagnosed with a similar proportion among the symptomatic and asymptomatic at birth (51.8% and 48.1%, respectively; p = 1.0). Thirty case patients had available data on follow-up. Neurological sequelae were more frequently seen in patients with symptomatic cCMV, but only cerebral abnormalities seen on initial MRI results had a consequential link with the later development of motor (OR 17.5; 95% Cl: 2667, 114,846; p = 0.002) and speech disorders (OR 15; 95% Cl: 2477, 90,843; p = 0.02). Although not statistically significant, hearing deterioration was more frequent in children with abnormal MRI results (OR 5; 95% Cl: 0.846, 29,567; p = 0.121). Neuroimaging abnormalities, as identified through both cranial ultrasound (CrUS) and MRI, are critical prognostic indicators for long-term sequelae, applicable to both symptomatic and asymptomatic children. Full article

Background: The GRIN2A gene and its product protein have been linked to a wide spectrum of neurodevelopmental disorders named GRIN2A-related disorders. Clinical presentation is highly variable and characteristically includes acquired cognitive, behavioral, and language impairment, as well as epilepsy, ranging from benign forms to severe epileptic encephalopathy. Recent genetic investigations have expanded the clinical spectrum of heterozygous GRIN2A variants, improving our understanding of genotype–phenotype correlations. However, there have been few long-term observational studies of patients affected by the genetically determined GRIN2A-related disease. Methods: To understand the long-term changes in clinical features, we described three patients from two Italian families, carrying variants in the GRIN2A gene. Results: After more than a decade of extensive electro-clinical follow-up, we observed a progressive cognitive decline associated with severe behavioral disturbances, despite clinical seizure control. The persistent presence of EEG epileptiform abnormalities over time suggests the need for a longitudinal neurophysiological study to monitor disease progression and evaluate the potential for anti-seizure medication discontinuation. Conclusions: Our study offers new insights into the natural progression of epilepsy in GRIN2A-related disorders, highlighting that a more detailed understanding of the phenotype and timely, personalized treatment could enhance the management and quality of life for both GRIN2A patients and their caregivers. Full article

Background and Objectives: Data regarding long-term outcomes of gastrostomy-fed children is scarce. The aim of the study was to analyze the long-term follow-up of children receiving percutaneous endoscopic gastrostomy (PEG) in terms of nutritional outcomes, hospitalization, and fundoplication rates. Materials and Methods: The medical records of gastrostomy-fed children who underwent PEG placement between January 2002 and June 2022 and subsequently attended primary care clinics of the Clalit Health Services (CHS) in Northeastern Israel, were reviewed in this retrospective cohort study. Results: A total of 372 gastrostomy tubes (GT) were placed, 88% of the children had neuro-developmental impairment. During the median follow-up of 64 months, 230 patients (62%) had frequent recurrent hospitalizations defined as at least two hospitalizations per year on average. Hospitalizations were due to respiratory infections in 52%. Among 322 patients who underwent iron status work-up, (64%) and (31%) had iron deficiency (ID) and ID anemia, respectively. Laboratory monitoring of other micronutrient levels was limited but showed that 25/73 (34%) had vitamin D deficiencies, without significant association with recurrent hospitalization (p > 0.1). A total of 12% of the patients underwent subsequent fundoplication. Conclusions: This study confirmed the durability of gastrostomy tube feeding in children with neurological impairment, noting a low prevalence of fundoplication but a high rate of hospitalizations, primarily due to respiratory infections. Regular assessment of micronutrient deficiencies, particularly vitamin D, is recommended for these patients. Full article

While both psychopathology and cognitive deficits manifest in mental health disorders, the nature of their relationship remains poorly understood. Recent research suggests a potential common factor underlying both domains. Using data from the Philadelphia Neurodevelopmental Cohort (N = 9494, ages 8–21), we estimated and validated a “c” factor representing overall cerebral functioning through a structural model combining cognitive and psychopathology indicators. The model incorporated general factors of psychopathology (“p”) and cognitive ability (“g”), along with specific sub-domain factors. We evaluated the model’s criterion validity using external measures, including parent education, neighborhood socioeconomic status, global functioning, and intracranial volume, and assessed its predictive utility for longitudinal psychosis outcomes. The model demonstrated acceptable fit (CFI = 0.98, RMSEA = 0.021, SRMR = 0.030), and the “c” factor from this model showed stronger associations with parent education (r = 0.43), neighborhood SES (r = 0.47), and intracranial volume (r = 0.39) than “p” and “g” factors alone. Additionally, baseline “c” factor scores significantly predicted psychosis spectrum outcomes at follow-up (d = 0.30–0.57). These findings support the utility of a “c” factor in capturing overall cerebral function across cognitive and psychopathology domains, with potential implications for understanding brain function, improving clinical assessment, and optimally focusing interventions. Full article

Background: Preterm infants (PIs) are more susceptible to neurodevelopmental impairment compared with term newborns. Adequate postnatal growth has been associated with improved neurocognitive outcomes; therefore, optimization of nutrition may positively impact the neurodevelopment of PIs. Objective: This study focused on macronutrient parenteral nutrition (PN) intake during the Neonatal Intensive Care Unit stay and their associations with neurodevelopmental outcomes in PIs in the first two years of life. Methods: The Embase, MEDLINE, and Cochrane Library databases were searched using the following subject headings and terms (MeSH): “premature infants”, “parenteral nutrition”, “growth”, “brain”, “neurodevelopment”, and “central nervous system diseases”. All relevant papers’ reference lists were manually searched. PN and neurodevelopment studies concerning the first two years of life were collected and analyzed. Results: 275 potential studies were retrieved, 64 were selected for full-text reading, and 22 were included (12 randomized controlled trials). While glucose intakes should be immediately provided and strictly monitored avoiding hyperglycemia, the long-term outcomes of aggressive PN caloric intakes are uncertain. Early amino acid (AA) supplementation is mandatory and improves short-term growth, though it is questionable whether increased AA and better neurodevelopment are directly related. Lipid infusion should be initiated right after birth, and further investigation will enable us to ascertain the potential impacts of lipid emulsions, particularly fish oil, on PI neurodevelopment. Conclusions: An aggressive PN and its possible metabolic complication could not favor neurodevelopment; the way forward could be a customized approach, depending on the patient’s clinical state and tolerance. Long-term follow-up studies and the search for specific markers of tolerance are warranted. Full article

Background/Objectives: Hypoxic-ischemic encephalopathy (HIE) in late preterm and term neonates accounts for neonatal mortality and unfavorable neurodevelopmental outcomes in survivors despite therapeutic hypothermia (TH) for neuroprotection. The circumstances of death in neonates with HIE, including involvement of neonatal palliative care (NPC) specialists and neurodevelopmental follow-up at 18–24 months in survivors, warrant further evaluation. Methods: A retrospective multicenter cohort study including neonates ≥ 35 weeks gestational age with moderate to severe HIE receiving TH, registered in the Swiss National Asphyxia and Cooling Register between 2011 and 2021. Neurodevelopmental follow-up at 18–24 months in survivors was assessed. The groups of survivors and deaths were compared regarding perinatal demographic and HIE data. Prognostic factors leading to redirection of care (ROC) were depicted. Results: A total of 137 neonates were included, with 23 (16.8%) deaths and 114 (83.2%) survivors. All but one death (95.7%) occurred after ROC, with death on a median of 3.5 (2–6) days of life. Severe encephalopathy was indicated by a Sarnat score of 3 on admission, seizures were more frequent, and blood lactate values were higher on postnatal days 1 to 4 in neonates who died. Lactate in worst blood gas analysis (unit-adjusted odds ratio 1.25, 95% CI 1.02–1.54, p = 0.0352) was the only variable independently associated with ROC. NPC specialists were involved in one case. Of 114 survivors, 88 (77.2%) had neurodevelopmental assessments, and 21 (23.9%) of those had unfavorable outcomes (moderate to severe disability). Conclusions: Death in neonates with moderate to severe HIE receiving TH almost exclusively occurred after ROC. Parents thus had to make critical decisions and accompany their neonate at end-of-life within the first week of life. Involvement of NPC specialists is encouraged in ROC so that there is continuity of care for the families whether the neonate survives or not. Full article