BACKGROUND: Encephalocele represent a group of disorders which is characterised by extracranial herniation of the leptomeninges, brain, and CSF through a structural defect in the cranium. They are usually associated with other intracranial anomalies which may impact the neurological development.
OBJECTIVE: This study aimed to assess the predictors of neurological development of patients undergone surgical excision of occipital encephalocele.
METHODS: All patients with occipital encephaloceles operated over the last decade (2012-2022). The sac size, presence of hydrocephalous, and associated anomalies were noted. The biopsy of these patients were reviewed and categorised as those which contains mature neural tissue and those without. The neurological outcomes were assessed by social, language, cognitive, and motor milestone and has been stratified into no delay, mild (1 of 4), moderate (2 or 3 of 4), and severe development delay (4 of 4).
RESULTS: Total of 35 patients were included with median age of 10 months (IQR = 5-20 months). Fifteen (42.9%) patients had sac size of ≥ 5 cm, and 23 (65.7%) patients had mature neural tissues on biopsy. The median follow-up period was 6.4 years (IQR = 4.38-10.65) years. Seventeen (49.6%) patients had moderate to severe developmental delay. The sac size of ≥ 5 cm (AOR = 33.5; 95%CI = 3.35-334.8) (p = 0.003) and presence of mature neural content in the sac (AOR = 13.32; 95%CI = 1.1-160.36) (p = 0.041) were associated with significant neurodevelopmental delay.
CONCLUSIONS: The presence of a large sac of ≥ 5 cm and the presence of mature neural tissues on histopathological specimen of patients with encephalocele point towards the possibility of poor neurological development.

OBJECTIVE: To examine the relationship between perioperative brain injury and neurodevelopment during early childhood in patients with severe congenital heart disease (CHD).
METHODS: One hundred and seventy children with CHD and born at term who required cardiopulmonary bypass surgery in the first 6 weeks after birth were recruited from 3 European centers and underwent preoperative and postoperative brain MRIs. Uniform description of imaging findings was performed and an overall brain injury score was created, based on the sum of the worst preoperative or postoperative brain injury subscores. Motor and cognitive outcomes were assessed with the Bayley Scales of Infant and Toddler Development Third Edition at 12 to 30 months of age. The relationship between brain injury score and clinical outcome was assessed using multiple linear regression analysis, adjusting for CHD severity, length of hospital stay (LOS), socioeconomic status (SES), and age at follow-up.
RESULTS: Neither the overall brain injury score nor any of the brain injury subscores correlated with motor or cognitive outcome. The number of preoperative white matter lesions was significantly associated with gross motor outcome after correction for multiple testing (P = .013, β = -0.50). SES was independently associated with cognitive outcome (P < .001, β = 0.26), and LOS with motor outcome (P < .001, β = -0.35).
CONCLUSIONS: Preoperative white matter lesions appear to be the most predictive MRI marker for adverse early childhood gross motor outcome in this large European cohort of infants with severe CHD. LOS as a marker of disease severity, and SES influence outcome and future intervention trials need to address these risk factors.

We sought to (1) update estimates of the prevalence of significant cognitive delay (SCD) among nationally representative samples of young children overall, and in upper-middle, lower-middle and low-income countries; (2) investigate whether variation in prevalence between countries was systematically associated with national wealth and other country characteristics; (3) investigate the stability of prevalence estimates over time; (4) examine the correlation between SCD and 2019 Global Burden of Disease estimates on the prevalence of the impairment of developmental intellectual disability under 5 years of age; and (5) investigate the extent to which risk of SCD within countries varies with child age and gender, maternal education and household wealth.
Secondary analysis of data collected in 126 nationally representative Multiple Cluster Indicators Surveys (MICS) conducted under the supervision of UNICEF in 73 countries involving a total of 396 596 3- to 4-year-old children.
The overall prevalence of SCD was 9.7% (95% CI 8.6-10.9%). Between-country variation in prevalence was strongly related to national wealth, the Human Development Index, the Human Inequality-adjusted Development Index and the Multidimensional Poverty Index, but not income inequality. In the 46 countries in which more than one survey was available prevalence estimates were reasonably stable over time (r = 0.80, P < 0.001). There were strong independent associations between increased risk of cognitive delay and younger child age, lower levels of maternal education and lower levels of household wealth (but not male gender). There was only a weak association across countries between the estimated prevalence of SCD and Global Burden of Disease estimates of the under 5 prevalence of the impairment of developmental intellectual disability.
UNICEF\'s MICS data are readily (and freely) available to researchers and provide a cost-effective opportunity for researchers who are concerned about better understanding the situation of young children growing up in the world\'s LMICs with a marked loss of developmental potential in areas of cognition and learning.

To study the association between neighborhood risk and moderate to severe neurodevelopmental impairment (NDI) at 22-26 months corrected age in children born at <34 weeks of gestation. We hypothesized that infants born preterm living in high-risk neighborhoods would have a greater risk of NDI and cognitive, motor, and language delays.
We studied a retrospective cohort of 1291 infants born preterm between 2005 and 2016, excluding infants with congenital anomalies. NDI was defined as any one of the following: a Bayley Scales of Infant and Toddler Development-III Cognitive or Motor composite score <85, bilateral blindness, bilateral hearing impairment, or moderate-severe cerebral palsy. Maternal addresses were geocoded to identify census block groups and create high-risk versus low-risk neighborhood groups. Bivariate and regression analyses were run to assess the impact of neighborhood risk on outcomes.
Infants from high-risk (n = 538; 42%) and low-risk (n = 753; 58%) neighborhoods were compared. In bivariate analyses, the risk of NDI and cognitive, motor, and language delays was greater in high-risk neighborhoods. In adjusted regression models, the risks of NDI (OR, 1.43; 95% CI, 1.04-1.98), cognitive delay (OR, 1.62; 95% CI, 1.15-2.28), and language delay (OR, 1.58; 95% CI, 1.15-2.16) were greater in high-risk neighborhoods. Breast milk at discharge was more common in low-risk neighborhoods and was protective of NDI in regression analysis.
High neighborhood risk provides an independent contribution to preterm adverse NDI, cognitive, and language outcomes. In addition, breast milk at discharge was protective. Knowledge of neighborhood risk may inform the targeted implementation of programs for socially disadvantaged infants.

Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. PTLS is also frequently associated with failure to thrive due to swallowing difficulties or growth hormone deficiency. We report the first Romanian family (a mother and her five children) diagnosed with PTLS (17p11.2 microduplication). Fortunately, they present a less severe form of the disease. The neurological manifestations (speech delay, mild intellectual disability) are associated with craniofacial dysmorphism (microcephaly, micrognathia, triangular face, broad forehead, long chin, prominent ears, dolichocephaly, down slanting palpebral fissures). The diagnostic was established using a multiplex ligation-dependent probe amplification technique (MLPA) test, which detected the duplication of three regions of the 17p11.2 chromosome (RAI1, DRC3-6, LLGL1-4RA). Children with PTLS have specific phenotypes (craniofacial dysmorphism or neurological manifestations), which must draw the pediatrician\'s attention to a possible genetic condition. However, every child with this disease is unique and may have a different clinical presentation. A multi-disciplinary team is needed for the management of these patients. The parent\'s counseling and genetic advice are essential for a family with children with PTLS.

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

UNASSIGNED: While the Chinese education system has seen massive improvements over the past few decades, there still exists large academic achievement gaps between rural and urban areas, which threaten China\'s long-term development. Additionally, recent literature has underscored the importance of early childhood development (ECD) in later-life human capital development.
UNASSIGNED: We analyze the lifecycle of cognitive development and learning outcomes in rural Chinese children by first examining if ECD outcomes affect cognition levels, then seeing if cognitive delays persist as children grow, and finally exploring connections between cognition and education outcomes.
UNASSIGNED: We combine data from four recent studies examining different age groups (0-3, 4-5, 10-11, 13-14) to track cognitive outcomes.
UNASSIGNED: First, we find that ECD outcomes for children in rural China are poor, with almost one-in-two children being cognitively delayed. Second, we find that these cognitive delays seem to persist into middle school, with almost 37% of rural junior high school students being cognitively delayed. Finally, we show that cognition has a close relationship to academic achievement.
UNASSIGNED: Our results suggest that urban/rural gaps in academic achievement originate at least in part from differences in ECD outcomes.
UNASSIGNED: While many papers have analyzed ECD, human capital, and inequality separately, this is the first paper to explicitly connect and combine these topics to analyze the lifecycle of cognitive development in the context of rural China.

Screen use is increasing rapidly among preschool children and excess screen use in these children has been associated with cognitive side effects and speech delay. We undertook this study to estimate the risk associated with screen time in children, parental supervision, and parent-reported cognitive development among preschool children aged 2-5 years.
A cross-sectional study was done between July 2019 and January 2020 involving parents of all students aged 2-5 years, attending 2 kindergarten schools in Thiruvalla using a self-administered questionnaire. Parents also used the Werner David Development pictorial scale (WDDPS), a screening tool to report cognitive development. The schools were sampled based on convenience.
Of the 189 children included in the study, 89.4% had excess screen use (> 1 h per day) and the average use was 2.14 h. 45.0% of parents supervised screen use inconsistently (self-reported). Meal-time screen use (OR 3.8, 95% CI 1.3-10.8), receiving screen on demand (OR 3.7, 95% CI 1.2-11.3), and using devices other than computers (OR 6.5, 95% CI 1.6-26.8) were significantly associated with excess screen use in pre-school children. Similarly, those children with inconsistently supervised screen time were significantly more likely to have suspected deficits in attention (OR 3.2, 95% CI 1.3-8.2), intelligence (OR 4.1, 95% CI 1.3-13.3), and social skills (OR 15.3, 95% CI 1.9-121.2), compared to children whose screen use was consistently supervised.
Screen time in the majority of preschool children is above the recommended limits, and inconsistent supervision by parents was seen in almost half of the study participants. Inconsistently supervised screen time is associated with suspected cognitive delays in children.

Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045-459,076)×3. The proband exhibits marked expressive and receptive problems, which affect both structural and functional aspects of language. These problems might result from a severe underlying deficit in working memory. Regarding the molecular causes of the observed symptoms, they might result from the altered expression of selected genes involved in procedural learning, particularly some of components of the SLIT/ROBO/FOXP2 network, strongly related to the development and evolution of language. Dysregulation of specific components of this network can result in turn from an altered interaction between DOCK8, affected by the microduplication, and CDC42, acting as the hub component of the network encompassing language-related genes.

Infantile hypotonia, with psychomotor retardation and characteristic facies 1 (IHPRF1), is a rare disorder characterized by global developmental delay and dysmorphic features. This syndrome is caused by genetic anomalies within the NALCN gene. The current report examines a 9-year-old female IHPRF1 patient. Our objective was to contribute to the delineation of the underlying factors influencing this rare condition. Whole exome sequencing (WES) was utilized to identify the disease-causing mutation in the affected individual. Subsequently, Sanger sequencing was performed for the patient, her parents, and two close relatives in order to confirm the detected mutation. Moreover, detailed clinical examinations including EEG, echocardiography, and biochemical/physical tests were carried out to elucidate the effects of the mutation. WES identified a homozygous nonsense mutation in the NALCN gene (c.2563C>T p.R855X). This mutation was confirmed by Sanger sequencing in the patient and her family members and segregated with the autosomal recessive inheritance pattern of IHPRF1. Moreover, genotype-phenotype correlation analysis confirmed the disease-causing nature of this mutation. The current report provides the first detailed description of a patient with this homozygous nonsense mutation (c.2563C>T p.R855X) and expands the clinical spectrum of IHPRF1 disease. Possible influences of sex and other factors on this disease are discussed and a review of the literature is also provided.