scholarly journals Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy

2020 ◽  
Vol 9 (11) ◽  
pp. 3739
Author(s):  
Lidia Perenc ◽  
Agnieszka Guzik ◽  
Justyna Podgórska-Bednarz ◽  
Mariusz Drużbicki
Keyword(s):  
Nervous System ◽  
Children And Adolescents ◽  
Head Circumference ◽  
Developmental Disorders ◽  
Neuromuscular Disorders ◽  
Head Size ◽  
Z Score ◽  
Significant Relationships ◽  
Progressive Encephalopathy ◽  
Abnormal Head

The current study was designed to investigate co-occurrence of absolute/relative microcephaly, absolute/relative macrocephaly and congenital nervous system disorders or neurological syndromes with symptoms visible since infancy, based on fundamental data acquired during the admission procedure at a neurological rehabilitation ward for children and adolescents. The study applied a retrospective analysis of data collected during the hospitalization of 327 children and adolescents, aged 4–18 years, affected since infancy by congenital disorders of the nervous system and/or neurological syndromes associated with a minimum of one neurodysfunction. To identify subjects with absolute/relative microcephaly, absolute/relative macrocephaly in the group of children and adolescents, the adopted criteria took into account z-score values for head circumference (z-score hc) and head circumference index (z-score HCI). Dysmorphological (x+/−3s) and traditional (x+/−2s) criteria were adopted to diagnose developmental disorders of head size. Regardless of the adopted criteria, absolute macrocephaly often coexists with state after surgery of lumbar myelomeningocele and hydrocephalus, isolated hydrocephalus, hereditary motor and sensory polyneuropathy, and Becker’s muscular dystrophy (p < 0.001, p = 0.002). Absolute macrocephaly is often associated with neural tube defects and neuromuscular disorders (p = 0.001, p = 0.001). Relative microcephaly often occurs with non-progressive encephalopathy (p = 0.017, p = 0.029). Absolute microcephaly, diagnosed on the basis of traditional criteria, is often associated with epilepsy (p = 0.043). In children and adolescents with congenital nervous system disorders or neurological syndromes with one or more neurodysfunction visible since infancy, there is variation in abnormal head size (statistically significant relationships and clinical implications were established). The definitions used allowed for the differentiation of abnormal head size.

Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction: a retrospective analysis

2019 ◽  
Author(s):  
Agnieszka Guzik ◽  
Lidia Perenc ◽  
Mariusz Drużbicki ◽  
Justyna Podgórska-Bednarz
Keyword(s):  
Clinical Practice ◽  
Children And Adolescents ◽  
Retrospective Analysis ◽  
Neuromuscular Disorders ◽  
Study Participant ◽  
The Other ◽  
Head Size ◽  
Assessment Criteria ◽  
Z Score ◽  
Traditional Classification

Abstract Background: Microcephaly and macrocephaly are cranial growth defects and at the same time clinical symptoms. There are two assessment criteria, one applied in dysmorphology and the other conventionally used in clinical practice. Which one should be used on a daily basis and what is the relationship between microcephaly or macrocephaly and the syndromes or diseases associated with neurodysfunction?. The study was designed to investigate the associations between abnormal cranium development (head size) and diseases or syndromes linked with neurodysfunction, based on essential data collected upon admission of the patients to the Neurological Rehabilitation Ward for Children and Adolescents. Methods: Retrospective analysis took into account 327 children and adolescents with medical conditions associated with neurodysfunction. In order to identify the subgroups of subjects with microcephaly, normal head size, and macrocephaly two assessment criteria were applied, one system commonly used in clinical practice and the other – applied in dysmorphology. To enable assessment based on all the above criteria, z-score for head circumference (z-score hc) was computed for each study participant. Normative values published earlier were used as reference.Results: The subjects were divided into seven subgroups – six with diseases/syndromes usually associated with encephalopathy (90.2%), and one with diseases commonly occurring without encephalopathy, i.e. neuromuscular disorders (9.8%). The findings showed more/less common co-occurrence of as well as statistically significant relationships between: the size of the head - dysmorphology classification (hc), and diseases or syndromes associated with neurodysfunction (p=0.026), classification with regard to etiopathogenesis, presence and character of encephalopathy (p=0.010), epilepsy (p<0.001), hypothyroidism p=0.024, Cp=0.105); and the size of the head - traditional classification (hc) and entities or syndromes associated with neurodysfunction (p<0.001), classification with regard to etiopathogenesis, presence and character of encephalopathy (p<0.001), encephalopathy in neural tube defects (p=0.004, Cp=0.564), type of spasticity (p=0.034, Cp=0.211), epilepsy (p<0.001), as well as hypothyroidism (p<0.001).Conclusions: Children and adolescents with syndromes or diseases associated with neurodysfunction present abnormal cranium development (head size) and are found with microcephaly co-occurring with epilepsy and hypothyroidism. It was shown that the traditional classification enabled identification of a greater number of relationships, therefore it should be used in the daily practice.

scholarly journals Microsomic and macrosomic body structure in children and adolescents affected by syndromes or diseases associated with neurodysfunction

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lidia Perenc ◽  
Agnieszka Guzik ◽  
Justyna Podgórska-Bednarz ◽  
Mariusz Drużbicki
Keyword(s):  
Nervous System ◽  
Body Weight ◽  
Children And Adolescents ◽  
Head Circumference ◽  
Body Height ◽  
Congenital Disorders ◽  
Study Group ◽  
Body Structure ◽  
Neurological Rehabilitation ◽  
Z Score

AbstractIn Poland the issue of microsomic body structure (micro-SBS) and macrosomic body structure (macro-SBS) has so far been overlooked. Up until now only a small amount of data have been published, most often as an overview of the problem. The current study was designed to investigate the co-occurrence of microsomic/macrosomic body structure (micro/macro-SBS) and congenital nervous system disorders or neurological syndromes with symptoms visible from infancy, based on essential data acquired during admission procedures at a neurological rehabilitation ward for children and adolescents. The study applied a retrospective analysis of data collected during hospitalization of 327 children and adolescents, aged 4–18 years who had been affected since infancy by congenital disorders of the nervous system and/or neurological syndromes associated with a minimum of one neurodysfunction. To identify subjects with microsomic or macrosomic body structure in the group of children and adolescents, the adopted criteria took into account z-score values for body height (z-score Ht), body weight (z-score Wt), head circumference (z-score HC), BMI (z-score BMI) and head circumference index (z-score HCI). The rates of micro/macro-SBS in the study group amounted to 7.3% and 0.6%, respectively. The findings show a more frequent co-occurrence of, as well as statistically significant correlations between, micro/macro-SBS and type of spasticity (cerebral palsy) (p = 0.024) as well as hydrocephalus not treated surgically (p < 0.001). Macro-SBS was found to more frequently co-occur with hemiplegia and hydrocephalus not treated surgically.

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

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.

Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity

2020 ◽  
Vol 33 (8) ◽  
pp. 975-982
Author(s):  
Pâmela Ferreira Todendi ◽  
J. Alfredo Martínez ◽  
Cézane P. Reuter ◽  
Elisa I. Klinger ◽  
Marilu Fiegenbaum ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Plasma Glucose Level ◽  
Genetic Variant ◽  
Body Fat Percentage ◽  
Z Score ◽  
Fat Percentage ◽  
Fto Gene ◽  
Obese Mother ◽  
Anthropometric Characteristics ◽  
Fto Rs9939609

AbstractObjectivesEvaluate the influence of the genetic variant rs9939609 of the FTO gene on anthropometric characteristics and whether parental obesity is related to children and adolescents being overweight.MethodsA total of 2,364 children and adolescents between 6 and 17 years old were genotyped and the lipid profile, plasma glucose level, and anthropometric characteristics were measured to assess adiposity.ResultsThe AA genotype (risk) was associated with higher body mass index (BMI Z-score; p = 0.006), waist circumference (WC; p = 0.001), and triglycerides (p = 0.033). The association of the participants’ adiposity characteristics with the parents’ BMI and FTO genotypes showed an association of the BMI Z-score when either the mother or father was overweight or obese (p = 0.028 and p = 0.029). In the overweight or obese father/eutrophic mother, we also observe an association of FTO rs9939609 with WC (p = 0.039). The effect of these variables on the risk of obesity was also tested: overweight or obese mother (OR = 1.82, p = 0.041), overweight and obese parents (OR = 3.09, p < 0.0001), and FTO rs9939609 AA genotype (OR = 2.08, p = 0.0004) were associated. With regard to altered WC and high body fat percentage (BF%), either overweight or obese parents (OR = 2.39, p < 0.0001; OR = 1.92, p < 0.002) showed an association. The FTO rs9939609 AA genotype (OR = 1.99, p = 0.0002) was associated with altered WC.ConclusionsThe results show that parental weight also contributes to obesity and may interact with the FTO genetic make-up.

Epigenetics in Clinical Management of Children and Adolescents with Brain Tumors

2017 ◽  
Vol 18 (1) ◽  
pp. 57-64 ◽  
Author(s):  
Andres Morales La Madrid ◽  
Mark W. Kieran
Keyword(s):  
Nervous System ◽  
Brain Tumors ◽  
Children And Adolescents ◽  
Tumor Biology ◽  
Tumor Development ◽  
Integrated Approach ◽  
Cell Types ◽  
Pediatric Brain Tumors ◽  
Tumor Formation ◽  
Molecular Profile

Central nervous system (CNS) tumors represent the second most prevalent group of cancers in children and adolescents, yet account for the majority of childhood cancer-related deaths and considerable morbidity among survivors, due to high-intensity non-selective standard therapies delivered to immature nervous system structures undergoing development. These tumors arise at different ages –not infrequently very early in life-, in different locations and cellular contexts, have varied cell types of origin, and have heterogeneous responses to the “classic” current therapeutic approaches. Demographic, radiologic and morphological characterization have several limitations, putting into the “classic boxes” heterogeneous tumors that are diverse in their genetic and epigenetic background and that will likely behave biologically different. Given that, epigenetic disruption (i.e. DNA methylation, histone modification and chromatin remodeling) is a common feature identified more and more frequently in pediatric cancer, it is logical to speculate that interrogating epigenetic marks may help to further define the molecular profile, and therefore tumor biology, evolution and treatment of these tumors. An integrated approach that incorporates traditional features complemented with genetic and epigenenetic specific markers offers tremendous promise to “risk-group” stratification and better prognostication. Also, it will help unveil the key driver pathways for tumor formation and for the discovery of targeted therapy for neoplasms that appear in the developing brain, facilitating early identification of therapy responders and track accurately disease progression. In this paper, we reviewed the most representative pediatric brain tumors where epigenetic alterations have been identified as initiating or driving events in tumor development, maintenance or progression.

Abstract 17071: Growth Asymmetry, Head Circumference and Neurodevelopmental Outcomes in Infants with Single Ventricles

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Thomas A Miller ◽  
Victor Zak ◽  
Peter Shrader ◽  
Chitra Ravishankar ◽  
Victoria L Pemberton ◽  
...  
Keyword(s):  
Gestational Age ◽  
Head Circumference ◽  
Single Ventricle ◽  
Univariate Analysis ◽  
Somatic Growth ◽  
Z Score ◽  
Neurodevelopmental Outcomes ◽  
Head Growth ◽  
Developmental Index ◽  
Asymmetric Growth

Poor somatic growth is common in infants with single ventricle (SV) physiology and has been linked to increased morbidity and impaired neurodevelopment. Asymmetry in somatic growth, a potential brain-sparing adaptation, is important in predicting outcomes in premature and small for gestational age (SGA) infants. Objectives: To assess variability in growth asymmetry and its associations with neurodevelopment in infants with SV. Methods: We analyzed growth asymmetry (weight for age z-score (WAZ) minus head circumference for age z-score (HCAZ)), relative head growth (change in cm/change in kg), HCAZ, and change in HCAZ from baseline to pre-Glenn in subjects prospectively enrolled in the Pediatric Heart Network Infant Single Ventricle (ISV) trial. Associations between these indices and results of the Psychomotor Developmental Index (PDI) and Mental Developmental Index (MDI) of the Bayley Scales of Infant Development-II (BSID) at 14 months were assessed. Results: Of the 230 patients enrolled in ISV, complete biometric data and BSID results were available in 168 (73%). For this cohort, age at enrollment was 21±9 days, age at pre-Glenn was 167±52 days, gestational age was 38.3±1.4 weeks, and 71% were male. Growth asymmetry varied across the cohort at enrollment (0.43 ±1.02, range -2.85 to 4.84) and the pre-Glenn visit (-0.23 ±1.21, range -4.45 to 3.00) as did the relative head growth (2.40±0.86, range 0.50 to 8.00). BSID scores were not associated with indices of growth asymmetry. In univariate analysis, larger pre-Glenn HCAZ correlated with higher MDI (r=0.21, p=0.006) and PDI (r=0.38, p<0.001) and greater increase in HCAZ from enrollment to pre-Glenn was associated with higher PDI (r=0.15, p=0.049). In multivariable modeling adjusting for site, serious adverse events, stage 1 length of stay, and height at 14 months, pre-Glenn HCAZ was an independent predictor of PDI (p=0.03), but not MDI. For each one unit Z-score increase in pre-Glenn HCAZ, the predicted PDI score increased by 2.5 points. Conclusions: In infants with SV, BSID scores were associated with pre-Glenn HCAZ but not with the degree of asymmetric growth. Future studies should explore why asymmetric growth that seems important in premature and SGA infants appears less relevant in infants with SV.

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