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1.
Acta Clin Croat ; 56(4): 742-748, 2017 Dec.
Article de Anglais | MEDLINE | ID: mdl-29590731

RÉSUMÉ

Parental socioeconomic status is a multidimensional concept of special importance for the growth, development, health outcomes and education of children. Its definition generally refers to the amount of parents' income, their employment status and level of education. Hence, lack of economic resources and poverty of parents affect all aspects of the child's life, health outcomes and education, as well as his/her social inclusion. Accordingly, the consequences of a reduced parental socioeconomic status leave long-term effects on their children. Therefore, in order to create interventional programs for children of parents with low income and lower socioeconomic status, as well as with lower level of education, it is important to address the direct aspects of poverty. This review contributes to the evidence indicating that the parental socioeconomic status is highly influential in determining the child's physical and mental health and future outcomes including his/her academic achievements and education, as well as the parameters of his/her physical abilities, cognitive function and fundamental neurobiology affecting brain development.


Sujet(s)
Santé mentale , Parents , Facteurs socioéconomiques , Enfant , Femelle , Humains , Revenu , Mâle , Classe sociale
2.
Clin EEG Neurosci ; 45(3): 193-200, 2014 Jul.
Article de Anglais | MEDLINE | ID: mdl-24323198

RÉSUMÉ

We investigated genetic influence on sleep electroencephalogram (EEG) composition by a classical twin study of monozygotic (MZ) and dizygotic (DZ) twins in the first 3 months of life. Polysomnographic (PSG) recordings were obtained in 10 MZ and 20 DZ twin pairs in the 37th, 46th, and 52nd week of postmenstrual age (PMA). The EEG power spectra were generated on the basis of fast Fourier transformation (FFT). Genetic influence on active sleep/rapid eye movement (AS/REM)] and quiet sleep/non rapid eye movement (QS/NREM) sleep composition was estimated by calculating within pair concordance and the intraclass correlation coefficients (ICCs) for delta (0.5-3.5 Hz), theta (4-7.5 Hz), alpha (8-11.5 Hz), sigma (12-14 Hz), and beta (14.5-20 Hz) at central derivation. MZ twins show higher ICCs than DZ twins for alpha, sigma, and beta spectral powers during QS/NREM sleep in the 37th, 46th, and 52nd week PMA. However, there was no significant difference (P > .05) between the 2 types of twins in absolute differences of EEG spectral power of the alpha, beta, and sigma frequency ranges in the 37th, 46th, and 52nd week PMA. The greatest mean absolute difference within MZ and DZ twin pairs and also between MZ and DZ twin groups was identified in the delta frequency range. Our findings gave an indication of genetic influence on alpha, sigma, and beta frequency ranges in the QS/NREM sleep stage.


Sujet(s)
Électroencéphalographie , Polysomnographie , Phases du sommeil/génétique , Phases du sommeil/physiologie , Jumeaux dizygotes/génétique , Jumeaux monozygotes/génétique , Cartographie cérébrale , Cortex cérébral/physiologie , Femelle , Analyse de Fourier , Humains , Nourrisson , Nouveau-né , Mâle , Traitement du signal assisté par ordinateur , Sommeil paradoxal/génétique , Sommeil paradoxal/physiologie , Analyse en ondelettes
3.
Croat Med J ; 52(4): 488-96, 2011 Aug 15.
Article de Anglais | MEDLINE | ID: mdl-21853543

RÉSUMÉ

AIM: To determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years). METHODS: We performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009. RESULTS: Multiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively. CONCLUSION: This study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished.


Sujet(s)
Tumeurs du cerveau/diagnostic , Encéphale/anatomopathologie , Imagerie par résonance magnétique , Neurofibromatose de type 1/diagnostic , Adolescent , Facteurs âges , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Études prospectives , Courbe ROC
4.
Coll Antropol ; 35 Suppl 1: 271-4, 2011 Jan.
Article de Anglais | MEDLINE | ID: mdl-21648346

RÉSUMÉ

The purpose of this pilot study is to asses the effects of multiple pregnancies on the maturation of the developing brain using the polysomnographic EEG recordings. Data from prospectively recorded 10 twin sets, born prematurely (mean 36 gestational week; range 33 - 38 GW) in the Split University Hospital Center, were analysed. We compared sleep architecture parameters in the twins at 37h and 44th postmenstrual age (PMA) with parameters that were expected at that PMA. The same parameters were compared within each twin pair using the Man Whitne test. At first measurement indeterminate sleep (IS) proportion was greater in the first twin than in the second one. The IS sleep proportion was 1.6 fold greater in the first twin (p=0.028), and 1,8 fold less percentage of quite sleep (QS) than the second twin (p=0.054). The length of sleep stages among the twins was similar at the second measurement. Measures of sleep architecture were not significantly different within the twins in second recording. The results of this study obtained on a relatively small number of twins (longer IS and shorter QS in the first twin at the 38th week recordings), showed that the maturational differences among twins exist in utero and shortly after birth, and then disappear until the end of the first month of the postnatal life.


Sujet(s)
Électroencéphalographie , Polysomnographie , Jumeaux/physiologie , Développement de l'enfant/physiologie , Femelle , Humains , Nouveau-né , Mâle , Naissance prématurée , Études prospectives
5.
Croat Med J ; 52(3): 396-402, 2011 Jun.
Article de Anglais | MEDLINE | ID: mdl-21674837

RÉSUMÉ

AIM: To test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE). METHODS: The study included 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life. Children with perinatal HIE fulfilled the diagnostic criteria for perinatal asphyxia. All children were admitted to the Clinical Hospital Split between 1992 and 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within NOS3 gene (rs3918186, rs3918188, rs1800783, rs1808593, rs3918227, rs1799983), in addition to previously confirmed NOS3-associated SNP rs1800779. Genotyping was conducted using real-time polymerase chain reaction (PCR). Association analyses were performed according to allelic and genotypic distribution. RESULTS: Allelic test did not show any SNP association with HIE. SNP rs1808593 showed genotype association (P=0.008) and rs1800783-rs1800779 TG haplotype showed an association with HIE (P<0.001). The study had 80% statistical power to detect (α=0.05) an effect with odds ratio (OR)=2.07 for rs3918186, OR=1.69 for rs3918188, OR=1.70 for rs1800783, OR=1.80 for rs1808593, OR=2.10 for rs3918227, OR=1.68 for rs1800779, and OR=1.76 for rs1799983, assuming an additive model. CONCLUSION: Despite the limited number of HIE patients, we observed genotypic and haplotype associations of NOS3 polymorphisms with HIE.


Sujet(s)
Hypoxie-ischémie du cerveau/génétique , Prématuré , Nitric oxide synthase type III/génétique , Polymorphisme génétique/génétique , Algorithmes , Score d'Apgar , Femelle , Génotype , Haplotypes , Humains , Hypoxie-ischémie du cerveau/diagnostic , Nouveau-né , Mâle , Odds ratio , Réaction de polymérisation en chaîne , Polymorphisme de nucléotide simple , Statistiques comme sujet
6.
Coll Antropol ; 32 Suppl 1: 105-11, 2008 Jan.
Article de Anglais | MEDLINE | ID: mdl-18405067

RÉSUMÉ

The aim of the study was to evaluate magnetic resonance imaging (MRI) findings in infants with periventricular leukomalacia (PVL) and West syndrome (WS) and determine the neurodevelopmental outcome in children with West syndrome and PVL. Ultrasound and brain MRI were performed in 37 infants with recognized PVL. PVL was categorized according to De Vries, whereas West syndrome was categorized according to International League Against Epilepsy 1989. West syndrome in our patients developed during the first 2 years of life. The most common interictal abnormality was hypsarrhythmia. All, except two patients had delayed development and various degrees of mental retardation. The most characteristic neuroimaging findings were major reduction in cerebral cortical gray matter volume, reduction in the volume of brain myelin, and delayed myelination. These findings may explain the anatomical association between the West syndrome onset and PVL and intellectual and cognitive deficit in premature infants with PVL.


Sujet(s)
Encéphale/physiopathologie , Troubles de la cognition/étiologie , Leucomalacie périventriculaire/complications , Spasmes infantiles/étiologie , Enfant d'âge préscolaire , Troubles de la cognition/classification , Électroencéphalographie , Femelle , Humains , Nourrisson , Nouveau-né , Leucomalacie périventriculaire/classification , Leucomalacie périventriculaire/diagnostic , Imagerie par résonance magnétique , Mâle , Indice de gravité de la maladie , Spasmes infantiles/classification , Spasmes infantiles/diagnostic , Échographie
7.
Coll Antropol ; 32 Suppl 1: 143-7, 2008 Jan.
Article de Anglais | MEDLINE | ID: mdl-18405074

RÉSUMÉ

The purpose of this study was to question the correlation of different grades of periventricular leukomalacia (PVL) and subsequent neurodevelopmental outcome. In a prospective study we followed 52 preterm infants. Infants were divided into three groups according to their cranial ultrasound findings of PVL (De Vries classification). Seventeen children had PVL 1, 20 children had PVL 2, and 15 children had PVL 3. All 15 (100%) children with PVL 3 developed cerebral palsy with additional visual perceptual dysfunctions and epilepsy. Children with PVL 1 had high frequency of mild neuromotoric delay and visual impairment. PVL 2 and 3 have great predictive value for subsequent severe neurodevelopmental disorder which refers to cerebral palsy, different cognitive deficits, vision impairment and epilepsy. We have determined that due to high frequency of visual impairment and epilepsy we need to include neurophysiologic examinations very early in children with PVL lesions.


Sujet(s)
Leucomalacie périventriculaire/classification , Maladies du système nerveux/classification , Paralysie cérébrale/complications , Épilepsie/complications , Humains , Nourrisson , Nouveau-né , Prématuré , Leucomalacie périventriculaire/complications , Leucomalacie périventriculaire/imagerie diagnostique , Imagerie par résonance magnétique , Maladies du système nerveux/complications , Études prospectives , Indice de gravité de la maladie , Échographie
8.
Coll Antropol ; 32 Suppl 1: 189-93, 2008 Jan.
Article de Anglais | MEDLINE | ID: mdl-18405081

RÉSUMÉ

The aim of this study was to analyse glycosphingolipid expression in cerebrospinal fluid (CSF) from one idiopathic West syndrome (IWS) infant, one with Reye like syndrome, and one with congenital hydrocephalus, in comparison to control group (n=7) using highly sensitive thin-layer chromatography-immunostaining methods. Gangliotetraose-series gangliosides (acidic glycosphingolipids) were not detected in CSF of infant with idiopathic West syndrome and infant with congenital hydrocephalus. CSF of infant with IWS showed traces of neolacto-tetraose ganglioside fractions, which were absent in all other CSF examined. In addition, lactosylceramide fraction, and one ceramide fraction were highly expressed only in IWS CSF These results confirmed previously described lack of gangliotetraose-series gangliosides in IWS patient and for the first time is described increased expression of neolacto-series glycosphingolipids in IWS patient. Since follow up until the age of five years showed almost normal IWS patient psychomotor development, the discribed shift of glycosphingolipid expression may implicate on transient inhibition of specific glycosyl transferases in the age of seven months.


Sujet(s)
Glycosphingolipides/liquide cérébrospinal , Hydrocéphalie/liquide cérébrospinal , Syndrome de Reye/liquide cérébrospinal , Spasmes infantiles/liquide cérébrospinal , Humains , Hydrocéphalie/imagerie diagnostique , Nourrisson , Échographie
9.
Pediatr Neurol ; 36(2): 84-7, 2007 Feb.
Article de Anglais | MEDLINE | ID: mdl-17275658

RÉSUMÉ

The primitive reflexes are brainstem-mediated and play various roles in the child's psychomotor development. The objective of the current study is to describe a new pattern of primitive reflex, noticed in 52 of 81 randomly chosen newborns and young infants during pressing of the subcostal region. Some of them reacted by three-phase stereotypic movement as follows: phase 1: quick adduction of upper arm with flexion of the forearm, with elbow directed toward the site of stimuli, touching the stimulated area; phase 2: abduction and retroflexion of upper arm with the movement of removing the stimulus with the elbow; phase 3: extension and pronation of the forearm. The prevalence of this newly described reflex was 64.2%. The incidence of all three phases together was highest at Day 16 (63.5%); phase 1 was the most frequent at Day 30 (88.5%) in 52 children with positive reflex. At Day 86, only 18.4% of them retained the first phase of the movement and 2% retained the third phase. All reflexes appeared until Day 30. We believe that we have described a new primitive reflex, with all characteristics essential for primitive reflexes. It is definitely involuntary, complex, stereotypic, with decreased incidence over time. Because of the defensive purpose and peculiar manner of this reflex, we named it the "elbowing reflex."


Sujet(s)
Articulation du coude , Comportement du nouveau-né et du nourrisson/physiologie , Mouvement/physiologie , Réflexe/physiologie , Comportement stéréotypé/physiologie , Femelle , Humains , Nourrisson , Nouveau-né , Mâle
10.
Ann N Y Acad Sci ; 1091: 225-32, 2006 Dec.
Article de Anglais | MEDLINE | ID: mdl-17341617

RÉSUMÉ

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder almost exclusively affecting females and is usually sporadic. Mutations in MECP2 gene have been found in more than 80% of females with typical features of RTT. In this study, we analyzed 15 sporadic cases of RTT. In 7 of 15 patients (47%), we detected pathogenic mutations in the coding parts of MECP2 fourth exon. We found two missense (T158M, R133C), two nonsense (R168X, R270X), two frameshift mutations (P217fs and a double deletion of 28-bp at 1132-1159 and 10-bp at 1167-1176), and one in-frame deletion (L383_E392del10). To our knowledge, the last two mutations have not been reported yet. We also detected one previously described polymorphism (S194S). In conclusion, these results show that the fourth exon should be the first one analyzed because it harbors most of the known mutations. Moreover, mutation-negative cases should be further analyzed for gross rearrangements. This is the first study of its kind in Croatia and it enabled us to give the patients an early confirmation of RTT diagnosis.


Sujet(s)
Protéine-2 de liaison au CpG méthylé/génétique , Mutation faux-sens , Mutation ponctuelle , Syndrome de Rett/génétique , Séquence nucléotidique , Codon non-sens , Croatie/épidémiologie , Analyse de mutations d'ADN , Femelle , Mutation avec décalage du cadre de lecture , Humains , Réaction de polymérisation en chaîne , Syndrome de Rett/épidémiologie , Délétion de séquence
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