Search

Background: To examine whether the patterns of head-size growth trajectory in the first month after birth are associated with different susceptibility to cognitive impairment outcomes at age 24 months. Methods: This retrospective cohort study included 590 infants of very-preterm survivors born between 2001 and 2016 receiving neurodevelopmental assessment at age 24 months. 403 children were enrolled for analysis after excluding infants with small-for-gestational age and severe brain injury. The head circumference (HC) growth evaluated weekly in the first month after birth compared to the at-birth HC was analyzed using group-based trajectory modeling. Neurocognition outcomes were determined as normal, borderline delay, or impaired using the Bayley Scales of Infant Development. Results: The HC growth dynamics in the first month after birth showed three trajectory patterns: delayed catch-up (31.5%), slow catch-up (54.0%), and fast catch-up (14.5%), which significantly corresponded to different rates of impaired cognition at 19.5%, 6.0%, and 8.5%, respectively (p

Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenting two siblings with GALM deficiency; one patient presented with cataracts and her brother was asymptomatic. We evaluated the first case due to a cataract at 3 months old. She had elevated galactose and galactose-1-phosphate and normal galactose-1-phosphate uridylyltransferase (GALT) activity. Genetic analysis and other laboratory and clinical findings excluded galactokinase-1 (GALK1) and UDP-galactose 4?-epimerase (GALE) deficiencies. She had a homozygous mutation p. Gly277Arg (c.829G>A) in the GALM (NM_138801) gene. She was 3 years old at the last visit, and her physical examination was normal, except for cataracts. The same mutation was found to be homozygous in the patient's asymptomatic sibling during family screening. He had normal blood galactose and galactose-1-phosphate. This study highlights the importance of evaluating the whole galactose metabolism in terms of GALM deficiency in patients with cataracts. © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

To identify risk factors for increasing severity of OASI and evaluate its possible correlation with two known risk factors-birth weight (BW) and neonatal head circumference (HC).We performed a retrospective cohort study at a university affiliated hospital between 2003 and 2019. We compared five groups of patients - according to presence and degree of perineal laceration - 3a, 3b, 3c and 4 and patients without OASI. Additionally, four parameters were defined to assess their relation to the severity of OASI: (1) BW ≥ 90th and HC 90th percentiles; (2) BW 90th and HC ≥ 90th percentile; (3) BW and HC ≥ 90th percentile and (4) BW and HC 90th percentiles.During the study period, 150,221 deliveries were evaluated. Parturients were allocated according to OASI severity - 455 patients had a 3rd (3a, 3b or 3c) or 4th degree perineal tear, while 110,966 patients had no OASI. Allocation to subgroups according to offspring anthropomorphic measures showed that as fetal size parameters increased, the rate of more severe tears increased, particularly in women delivering neonates with HC ≥ 90th percentile. Multinomial regression analysis was performed for each 3rd degree OASI subgroup. This analysis demonstrated the odds for OASI gradually increase with tear severity for BW ≥ 90th percentile and the combined BW and HC ≥ 90th percentile parameters, as compared with neonates with HC and BW 90th percentile.Birth weight and head circumference above the 90th percentile are correlated with increased degree of OASI severity.

Marjo Karvonen,1,2 Antti Saari,1,2 Reijo Sund,1 Ulla Sankilampi1,2 1School of Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland; 2Department of Pediatrics, Kuopio University Hospital, Kuopio, FinlandCorrespondence: Marjo Karvonen Email marjo.karvonen@kuh.fiBackground: Maternal smoking during pregnancy causes fetal growth retardation. Thereafter, it has been associated with excessive childhood weight gain and decreased linear growth in the offspring. However, it is not known whether head circumference (HC), the surrogate of brain size in childhood, is altered after intrauterine tobacco exposure. We assessed the association of maternal smoking during pregnancy with offspring HC growth up to age 6 years in comparison with length/height growth and weight gain.Methods: We combined data from Medical Birth Register and longitudinal growth data from primary care of 43,632 children (born 2004– 2017). Linear mixed effects models were used for modeling, adjusting for potential perinatal and socioeconomic confounders.Results: At birth, maternal smoking during pregnancy was associated with a mean deficit of 0.19 standard deviation score (SDS) (95% CI: − 0.25, − 0.12) in HC, − 0.38 SDS (95% CI: − 0.43, − 0.32) in length, and − 0.08 SDS (95% CI:− 0.14, − 0.02) in weight-for-length. HC in smokers’ children failed to catch up to that of non-smokers’ children. Height of smokers’ infants reached that of non-smokers’ infants by 12 months but declined thereafter. Weight-for-height of smokers’ infants exceeded the level of non-smokers’ infants at 3 months and remained significantly elevated thereafter. HC in the offspring of mothers who quit smoking in the first trimester was not deficient, but their weight-for-height was elevated.Conclusion: HC of smokers’ children is still deficient at age 6 years. Since most of the head growth occurs during the first 2 years of life, the defect may be permanent. In smokers’ children, weight gain was excessive up to 6 years and height was deficient at 6 years consistent with previous literature. Efforts should be made to encourage pregnant women to quit smoking in the beginning of the pregnancy.Keywords: maternal smoking, tobacco exposure, child growth, head circumference, weight, height

Purpose Multiple names within the literature refer to a clinical picture affecting infants and consisting of a large or fast growing head circumference with enlarged cortical subarachnoid spaces (CSAS) while cranial sutures are open. This myriad of terms demonstrates the confusion about the entity, that may even group together different etiological processes. In this review, we aim to shed light on this matter in an effort to restate the defining features of the clinical picture and sum the evidence and current understanding of its pathophysiology and related imaging findings. Methods Extensive and updated review of the literature with special focus on defining features, clinical history with long term evaluation and pathophysiological process. Results Functional and molecular CSF studies as well as clinical evidence challenges the common pathophysiological theory based on non-functional arachnoid villi. Conversely, there is increasing evidence supporting cerebro-venous system abnormalities as the main pathophysiological factor. Additionally, long term cohorts studies show that it may have subtle but irreversible neurodevelopmental consequences. Conclusion Subarachnomegaly is an age-related condition of the infancy with radiological enlargement of CSAS and often self limiting course. However, considering the evidence on pathophysiology as outlined herein and long term outcome reports, further research effort is needed to assess the consequences of venous outflow impairment and enlarged CSAS and how this relates to imaging findings and neurodevelopment test results later in life

International audience; BACKGROUND: In developed countries, about 15% of women are occupationally exposed to solvents. Associations between this maternal occupational exposure and intrauterine fetal growth are inconsistent, but almost no existing study has investigated this relation by solvent family (oxygenated, petroleum, and chlorinated), although they may affect fetal growth differently. OBJECTIVES: To investigate the relations between maternal occupational solvent exposure, by solvent family, and the risk of neonates born small for gestational age (SGA), or with low birthweight, or with small head circumference (HC). METHODS: Among the 18,040 women included in the Elfe birth cohort, we included 13,026 women who worked during pregnancy (72% of the cohort). Information about maternal occupations and industrial activities during pregnancy was collected by questionnaire at the maternity ward, and completed at 2-month when necessary. Using Matgéné job-exposure matrices, we assessed maternal occupational exposure to solvents. Logistic and multiple linear regressions were used to assess the association between maternal occupational solvent exposure and SGA status, birth weight, and HC. Analyses were conducted for exposure during pregnancy and also stratified by the trimester that pregnancy leave began. RESULTS: We observed a higher risk of SGA newborns among mothers occupationally exposed during pregnancy to petroleum solvents (OR(adjusted) = 1.26; 95%CI: 1.01 to 1.57). Among women working until the third trimester of pregnancy, we observed a higher risk of SGA newborns to those occupationally exposed to oxygenated solvents (OR(adjusted) = 1.75; 95%CI: 1.11 to 2.75), a significantly lower birthweight for infants of mothers exposed to petroleum solvents (β(adjusted) = -47.37 g; -89.33 to -5.42), and a lower HC among newborns of those occupationally exposed to oxygenated solvents (β(adjusted) = -0.28; -0.49 to -0.07) and to chlorinated solvents (β(adjusted) = -0.29; -0.53 to -0.05). DISCUSSION: Our results suggest that maternal occupational solvent exposure may influence fetal growth, especially exposure into the third trimester of pregnancy.

Background: The cephalometry of newborn within first few days is important for assessment of health status, neonatal death, growth and development. The objective of the study is to provide a baseline data for cephalic index and to observe sexual dimorphism. Methods: The present study was cross sectional type. It consisted of 138(72 males, 66 females) healthy neonates born in Dhulikhel hospital via vaginal delivery. It was conducted from June 2019 to March 2020 after receiving ethical approval. The cephalic index was derived after measuring length and breadth of head. The collected data was entered in excel and analyzed with SPSS (16.0). Results: The conducted study revealed the overall cephalic index as 86.51±4.95 and head circumference to be 336.05±13.87 mm. The values of head circumference and head length of males were higher than that of females. The head breadth of males was found to be significantly higher than that of females. The most common type of head type was hyperbrachycephalic with prevalence of 37.7% (40.3% males and 34.8% females). Conclusions: This study concluded that the majority type of head was hyperbrachycephalic.

Background: Pregnancy-induced hypertensive (PIH) disorder represented the primary cause of maternal and fetal morbidity and mortality. The cause of pre-eclampsia is unknown, but ischemic blood supply to the placenta stimulates the inflammatory process which leads to endothelial dysfunction and oxidative stress. Antioxidants like Selenium altered concentration involve in its pathogenesis. This study was proposed to find out the significance of Selenium as a biomarker in the pathophysiology of PIH disorders and its association with fetal outcomes. Methodology: This case-control study was conducted on 240 pregnant women, 20-40 weeks of gestation, divided into four groups equally. Normotensive control, investigational group 1 PIH, 2 Pre-eclamptic, and 3 Eclamptic. A structured questionnaire was administered and arterial blood pressure was measured and the blood sample was done for serum Selenium assessment through ELISA. A urine sample was collected and the level of proteinuria was assessed. Fetal wellbeing and signs of growth restriction were observed using ultrasound reports. Results: The mean age of the studied participants was 27.6 ± 5.3 years with the gestational age of 32.11 ± 4.56 weeks. The mean Serum Selenium levels (ng/ml) were significantly lower in investigational groups 67.93 ± 10.54 in PIH, 44.6 ± 13.19 in PE, and 36.38 ± 10.3 in Ec than 78.5 ± 8.2 control (p0.00), Ec (r=0.559, p=0.019) than control (r = 0.817, p

Background:Fenton charts from developed world are commonly used for growth assessment of preterm newborns. Recently prescribed Intergrowth-21 (IG-21) charts look more promising as they include mixed population from economically diverse nations.Objective:We compared IG-21 with Fenton charts for birth size classification and extrauterine growth in preterm infants.Study design:A prospective collection of growth parameters.Participants:Preterm newborns (Intervention:Weight (W), length (L), and head circumference (HC) were collected at weekly interval during the stay as well as follow-up.Outcomes:Growth of preterm newborns at birth and last follow-up was assessed using Fenton and IG-21 charts. Agreement between Fenton and IG-21 for percentiles and z-scores of growth parameters was assessed using Bland-Altman plot.Results:A total of 301 preterm newborns were enrolled in the study. Mean (standard deviation [SD]) gestational age at birth was 34.08 (1.84) weeks, while at last follow-up (N = 296) it was 37.62 (1.85) weeks. The mean (SD) of birth W, L, and HC were 1889.24 (418.9) g, 44.69 (3.03) cm, and 30.6 (1.84) cm, respectively, while for last follow-up, they were 2114.76 (397.7) g, 47.64 (2.97) cm, and 32.65 (1.7) cm, respectively. The agreement of z-score/percentile between the 2 growth charts was not good for all the anthropometric parameters. Overall, Fenton reported more intrauterine (42.9% vs 36.9%) and extrauterine (92.9% vs 73%) growth restriction as compared to IG-21.Conclusion:The agreement between the 2 charts was poor. More proportions of the preterm population were growth restricted using Fenton charts.

Background: Hypertensive disorders are an important medical problem of gestation. Hypertensive disorders of pregnancy (HDP) are a significant cause for maternal and fetal morbidity as well as mortality. Intrauterine growth retardation (IUGR) commonly describes the condition of fetus whose size or growth is subnormal. IUGR fetus is frequently described as symmetrical and asymmetrical IUGR in term of their body proportions. Asymmetric growth retardation is typically linked to uteroplacental inadequacy. Hypertension is one of the maternal causes of placental insufficiency. Aim: To compare head circumference and abdominal circumference ratio in normotensive and patients with pregnancy induced hypertensive disorders after 28 weeks of gestation. Methodology: A cross sectional analytical study was carried on 113 pregnant females in which 57 women were normotensive and 56 women were hypertensive. All individuals were scanned by two- dimensional ultrasound following 28 weeks of pregnancy to evaluate sonographic parameters HC and AC. The HC/AC ratio was estimated by dividing head circumference with abdominal circumference. Results: Out of 57 normotensive patients 27 (36.48%) fetuses were diagnosed with IUGR having HC/AC ratio more than 1, while 30 had normal HC/AC ratio. In 56 hypertensive patients 47(63.51%) fetuses were diagnosed with IUGR having HC/AC ratio greater than 1, however 9(23.07%) fetuses had HC/AC ratio within normal range. So out of total 113 patients, 74 fetuses were found with IUGR while 39 fetuses had HC/AC ratio within normal ranges. Our study found that a cut off value of ≥ 1.0974 for HC/AC ratio could be used as diagnostic parameter in predicting IUGR. Conclusion: HC/AC ratio is a useful parameter for the detection of IUGR. Keywords: Head Circumference, Abdominal Circumference, Intra Uterine Growth Retardation

Objective:To investigate the impact of household food insecurity during the third trimester of pregnancy on the growth indicators of infants aged less than 6 months.Design:Retrospective longitudinal study.Setting:137 healthcare centres (15 cities) in Khorasan Razavi province, Iran. Data were extracted from the Sina Electronic Health Record System (SinaEHR®).Participants:This study was conducted on 2481 mother and infant dyads during November 2016–March 2019. The Household Food Insecurity Access Scale (nine-item version) was used to measure food insecurity in the third trimester of pregnancy. Women who delivered singleton infants were included in the study, and anthropometric indices of infants were measured throughout the first 6 months of life.Results:Approximately 67 % of the participants were food secure, while 33 % had varying degrees of food insecurity. The children born to the mothers in the food-insecure households were, respectively, 2·01, 3·03, and 3·83 times more likely to be stunted at birth (95 % CI 1·17, 3·46), 4 months (95 % CI 1·21, 7·61) and 6 months of age (95 % CI 1·37, 10·68) compared to their counterparts in the food-secure households. However, there were no significant differences in mean birth weight, birth height and head circumference at birth between the two groups.Conclusions:Household food insecurity during pregnancy is a risk factor for stunting in infants aged less than 6 months. Therefore, national nutrition programs could considerably support women in food-insecure households during and before pregnancy.

We sought to determine if variation in head circumference (HC) within the range of normal (5th-10th and 90th-95th percentile) is associated with poor neurodevelopmental outcomes (NDO), which defined as mild or moderate delay by Bayley II psychometrics (BSID-II).This is a secondary analysis of a randomized controlled trial assessing the benefits of magnesium for the prevention of cerebral palsy. Fetuses with a normal HC at birth defined as within 5th to 95th percentile were included. NDO were assessed at age 2 with BSID-II. Moderate delay was defined as a score70 and mild delay as85. HC was classified as small normal (5th-10th percentile), normal (10th-90th percentile), and large normal (90th-95th percentile). Logistic regression models adjusted for confounding. Linear regression models estimated the impact for every 1 cm of change in HC.Of 1,236 included infants, 111 (8%) had small normal HC; 1,058 (85%) had normal HC; and 67 (5%) had large normal HC. Baseline characteristics were similar between groups. There was no association with changes in HC within the range of normal and developmental indices. When considered as a continuous variable, every 1 cm increase in HC was also not associated with a significant change in developmental indices.Within the normal range (5th-95th percentile), changes in HC did not correlate with changes in NDO at 2 years as measured by Bayley II scales.· It is unknown if variations in normal HC are associated with poor neurodevelopmental outcomes.. · Alterations in HC within the range of normal (5th-95th percentile) are not associated with adverse NDO.. · When considered as a continuous variable, a 1 cm increase in HC is not associated with adverse NDO.. · Changes in HC within the range of normal do not appear to be a pathologic change altering NDO..