scholarly journals Clinical profile of children with developmental delay and microcephaly

2013 ◽  
Vol 04 (03) ◽  
pp. 288-291 ◽  
Author(s):  
Anju Aggarwal ◽  
Hema Mittal ◽  
Rahul Patil ◽  
Sanjib Debnath ◽  
Anuradha Rai
Keyword(s):  
Cerebral Palsy ◽  
Child Development ◽  
Developmental Delay ◽  
Head Circumference ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Z Score ◽  
Developmental Quotient ◽  
Congenital Infections ◽  
Z Scores

ABSTRACT Aim: To study the profile of children with developmental delay and microcephaly. Materials and Methods: Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared. Results: Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3). Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184), males (72.7%). Comorbidities were epilepsy (42.9%), visual abnormality (26.4%), hearing abnormality (16.9%). Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002). Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4), inborn error of metabolism (3), post-meningoencephalitis (5), malformations (12), and syndromic (13). Neuroimaging was done in 118 (51.1%) cases of which 104 (88.1%) were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P &003E; 0.05). Conclusion: Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly.

Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

2013 ◽  
Vol 37 (2) ◽  
pp. 189-195 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Gisela Haege ◽  
Esther M. Glahn ◽  
Georg F. Hoffmann ◽  
Martin Lindner ◽  
...  
Keyword(s):  
Child Development ◽  
Newborn Screening ◽  
Family Life ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Impact On Family

scholarly journals L-2-Hydroxyglutaric Aciduria – a Rare Type of Organic Aciduria Presenting as Seizures and Developmental Delay in a Filipino Child

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
Cristine P. Lopez ◽  
Sheryl V. Decena ◽  
Kathleen Gayl D. Fonacier ◽  
Mary Anne D. Chiong
Keyword(s):  
Developmental Delay ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
The Philippines ◽  
Body Fluids ◽  
Organic Aciduria ◽  
Inborn Error Of Metabolism ◽  
Biochemical Tests ◽  
Rare Type

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare, autosomal recessive organic aciduria with increased levels of L-2hydroxyglutaric acid in the urine and other body fluids. Clinical presentation includes developmental delay, epilepsy, and typical neuroimaging findings. This is a report of the clinical, neuroimaging, and biochemical findings of the first diagnosed case of L-2-hydroxyglutaric aciduria in the Philippines. This paper likewise reaffirms the importance of locally available biochemical tests in diagnosing inborn error of metabolism.

scholarly journals Relation of in-utero exposure to antiepileptic drugs to pregnancy duration and size at birth

2019 ◽  
Author(s):  
Andrea V Margulis ◽  
Sonia Hernandez-Diaz ◽  
Thomas McElrath ◽  
Kenneth J Rothman ◽  
Estel Plana ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Birth Weight ◽  
Antiepileptic Drugs ◽  
Head Circumference ◽  
In Utero ◽  
Z Score ◽  
Reference Drug ◽  
Z Scores ◽  
Effect Measure Modification ◽  
Size At Birth

ABSTRACTBackgroundThe associations of individual antiepileptic drugs (AEDs) with pregnancy duration and size at birth, and potential dose relations, are not well characterized.MethodsThis cohort study used nationwide Swedish register data (1996-2013). Adjusting for smoking, epilepsy and other AED indications, we used linear and quantile regression to explore associations with pregnancy duration, and birth weight, length, and head circumference (the last three operationalized as z-scores). We used logistic regression for preterm delivery, small for gestational age, and microcephaly. Lamotrigine was the reference drug.Results6,720 infants were exposed to AEDs in utero; AED exposure increased over the study period. Relative to lamotrigine-exposed infants, carbamazepine-exposed infants were born, on average, 1.3 days earlier (mean [95% confidence interval]: −1.3 [−2.3 to −0.3]); were 0.1 standard deviations (SDs) lighter (−0.1 [−0.2 to 0.0]); and had a head circumference that was 0.2 SDs smaller (−0.2 [−0.3 to −0.1]). Pregabalin-exposed infants were born, on average, 1.1 days earlier (1.1 [−3.0 to 0.8]); were 0.1 SDs lighter (−0.1 [−0.3 to 0.0]); and had the same head circumference. Levetiracetam-exposed infants were born, on average, 0.5 days earlier (−0.5 [−2.6 to 1.6]); were 0. 1 SDs lighter (−0.1 [−0.3 to 0.0]); and were 0.1 SDs smaller (−0.1 [−0.3 to 0.1]) in head circumference. Valproic acid–exposed infants had, on average, the same duration of gestation and birth weight z-score, but were 0.2 SDs smaller (−0.2 [−0.2 to −0.1]) in head circumference. More negative associations at the left tail of pregnancy duration and birth weight z-score, effect-measure modification, and dose-response relations were noted for some of the associations. Observed associations were generally of smaller magnitude than that of smoking, assessed as a potential confounder in the same models.ConclusionsIn comparison with lamotrigine, valproic acid and carbamazepine had a more negative association with head circumference than other study AEDs.

scholarly journals Maternal smoking and cannabis use during pregnancy and infant outcomes

2020 ◽  
Vol 48 (2) ◽  
pp. 168-172 ◽  
Author(s):  
Sarah Sturrock ◽  
Emma Williams ◽  
Hemant Ambulkar ◽  
Theodore Dassios ◽  
Anne Greenough
Keyword(s):  
Head Circumference ◽  
Maternal Smoking ◽  
Neonatal Intensive Care ◽  
Perinatal Outcomes ◽  
Mixed Race ◽  
Cannabis Use ◽  
White Background ◽  
Z Score ◽  
Z Scores ◽  
Lower Birthweight

AbstractBackgroundOur aim was to determine the prevalence of tobacco smoking and e-cigarettes and cannabis use during pregnancy, whether these were influenced by ethnicity, and their relationship to perinatal outcomes.MethodsA study was carried out in 4465 infants whose mothers delivered during 2017 and 2018. Self-reported maternal smoking, e-cigarette and cannabis use at booking were recorded. Outcome measures were birthweight and head circumference z-scores and admission to the neonatal intensive care unit (NICU).ResultsTwo hundred and five women reported smoking cigarettes (4.7%), five were using e-cigarettes (0.11%) and 106 were using cannabis (2.43%). Women were most likely to smoke if young (15–19 years old) or from a mixed-race or White background. Cigarette smoking was associated with a lower mean z-score for birthweight (−0.587 vs. −0.064) and head circumference (−0.782 vs. −0.157) (both outcomes P < 0.0001). Young, mixed-race women were most likely to be both smoking and using cannabis during pregnancy and their infants had a lower birthweight mean z score (−0.989 vs. −0.587, P = 0.028) and head circumference z score (−1.33 vs. 0.782, P = 0.025) than cigarette use alone.ConclusionYoung, mixed-race women were most likely to be both smoking and using cannabis during pregnancy and should be targeted for cessation programmes.

Bronchopulmonary dysplasia and postnatal growth following extremely preterm birth

2020 ◽  
pp. fetalneonatal-2020-320816
Author(s):  
Theodore Dassios ◽  
Emma E Williams ◽  
Ann Hickey ◽  
Catey Bunce ◽  
Anne Greenough
Keyword(s):  
Bronchopulmonary Dysplasia ◽  
Head Circumference ◽  
Outcome Measure ◽  
Postnatal Growth ◽  
Z Score ◽  
Main Outcome Measure ◽  
Extremely Preterm ◽  
Postmenstrual Age ◽  
Extremely Preterm Birth ◽  
Current Incidence

ObjectivesTo report the current incidence of bronchopulmonary dysplasia (BPD) and to compare changes in weight and head circumference between infants who developed BPD and infants who did not.DesignRetrospective, whole-population study.SettingAll neonatal units in England between 2014 and 2018.PatientsAll liveborn infants born <28 completed weeks of gestation.InterventionsThe change in weight z-score (ΔWz) was calculated by subtracting the birthweight z-score from the weight z-score at 36 weeks postmenstrual age (PMA) and at discharge. The change in head circumference z-score (ΔHz) was calculated by subtracting the birth head circumference z-score from the head circumference z-score at discharge.Main outcome measureBPD was defined as the need for any respiratory support at 36 weeks PMA.Results11 806 infants were included in the analysis. The incidence of BPD was 57.5%, and 18.9% of the infants died before 36 weeks PMA. The median (IQR) ΔWz from birth to 36 weeks PMA was significantly smaller in infants who developed BPD (−0.69 (−1.28 to −0.14), n=6105) than in those who did not develop BPD (−0.89 (−1.40 to −0.33), n=2390; adjusted p<0.001). The median (IQR) ΔHz from birth to discharge was significantly smaller in infants who developed BPD (−0.33 (−1.69 to 0.71)) than in those who did not develop BPD (−0.61 (−1.85 to 0.35); adjusted p<0.001).ConclusionsPostnatal growth was better in infants diagnosed with BPD compared with infants without BPD possibly due to more aggressive nutrition strategies.

Dental Caries Severity and Nutritional Status of Nigerian Preschool Children

2021 ◽  
pp. 238008442110021
Author(s):  
O.O. Olatosi ◽  
A.A. Alade ◽  
T. Naicker ◽  
T. Busch ◽  
A. Oyapero ◽  
...  
Keyword(s):  
Early Childhood ◽  
Dental Caries ◽  
Nutritional Status ◽  
Early Childhood Caries ◽  
Z Score ◽  
Cross Sectional ◽  
Risk Of Death ◽  
Malnourished Children ◽  
Z Scores ◽  
Childhood Caries

Introduction: Malnutrition in children is one of the most prevalent global health challenges, and malnourished children have a higher risk of death from childhood diseases. Early childhood caries (ECC) is the most common chronic disease of childhood. Complications from ECC such as pain, loss of tooth/teeth, and infection can undermine a child’s nutrition and growth. Aim: This study aims to evaluate the severity of decay, missing, and filled tooth (dmft) by nutritional status using the z scores of the anthropometric measurements: height for age (HFA), weight for age (WFA), weight for height (WFH), and body mass index for age (BMIA) among children with ECC in Nigeria. Study Design: This is a cross-sectional study conducted in 5 local government areas (LGAs) in Lagos State, Nigeria. A multistage sampling technique was used. Results: A total of 273 cases of ECC were included in the analyses (mean age 4.19 ± 0.96 y). Overall, the mean dmft was 3.04 ± 2.28, and most (96%) were accounted for by untreated decay. The distribution of dmft within the different z score categories of BMIA (<–3 = severely wasted, –2 to –3 = wasted, –2 to +2 = normal, +2 to +3 = overweight and >+3 = obese) showed the highest dmft scores among the combined severely wasted and wasted groups, lowest among children with normal z scores, and intermediate in the overweight and obese groups. There was a significant negative correlation between BMIA z score, WFH z score, and dmft ( r = −0.181, P < 0.05 and r = −0.143, P < 0.05, respectively). However, the correlations between HFA z score, WFA z score, and dmft were positive but not significant ( r = 0.048, P = 0.44 and r = 0.022, P = 0.77, respectively). Conclusion: Our study showed an increased severity of dental caries among severely wasted or wasted children with ECC compared to those of normal or overweight. Knowledge Transfer Statement: The results from this study will raise awareness among clinicians and policy makers on the need for a primary prevention program for early childhood caries in countries with high burden of malnutrition and limited resources. Also, it will help draw the attention of clinicians to the caries status of malnourished children that can be managed to improve the nutritional outcomes.

scholarly journals Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort

2017 ◽  
Vol 50 (6) ◽  
pp. 1701659 ◽  
Author(s):  
Myrofora Goutaki ◽  
Florian S. Halbeisen ◽  
Ben D. Spycher ◽  
Elisabeth Maurer ◽  
Fabiën Belle ◽  
...  
Keyword(s):  
Lung Function ◽  
Primary Ciliary Dyskinesia ◽  
Repeated Measurements ◽  
World Health ◽  
Z Score ◽  
Multilevel Regression ◽  
Growth And Nutrition ◽  
Diagnostic Certainty ◽  
Z Scores ◽  
Ciliary Dyskinesia

Chronic respiratory disease can affect growth and nutrition, which can influence lung function. We investigated height, body mass index (BMI), and lung function in patients with primary ciliary dyskinesia (PCD).In this study, based on the international PCD (iPCD) Cohort, we calculated z-scores for height and BMI using World Health Organization (WHO) and national growth references, and assessed associations with age, sex, country, diagnostic certainty, age at diagnosis, organ laterality and lung function in multilevel regression models that accounted for repeated measurements.We analysed 6402 measurements from 1609 iPCD Cohort patients. Height was reduced compared to WHO (z-score −0.12, 95% CI −0.17 to −0.06) and national references (z-score −0.27, 95% CI −0.33 to −0.21) in male and female patients in all age groups, with variation between countries. Height and BMI were higher in patients diagnosed earlier in life (p=0.026 and p<0.001, respectively) and closely associated with forced expiratory volume in 1 s and forced vital capacity z-scores (p<0.001).Our study indicates that both growth and nutrition are affected adversely in PCD patients from early life and are both strongly associated with lung function. If supported by longitudinal studies, these findings suggest that early diagnosis with multidisciplinary management and nutritional advice could improve growth and delay disease progression and lung function impairment in PCD.

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