Fetal alcohol spectrum disorders and neurodevelopmental disorders were common in this long-term follow-up study of children adopted from orphanages in eastern Europe. Maternal alcohol consumption during pregnancy has long-lasting adverse effects, causing structural, behavioral, and cognitive damage despite a radically improved environment.
SUMMARY A total population of 589 6‐year‐old children were screened for neurodevelopmental/neuro‐psychiatric disorders by questionnaires to parents and preschool teachers, and by examination of motor abilities at the Child Health Center. Fifty screen‐positive and fifty screen‐negative children were assigned for complete neuropsychiatric assessment comprising a detailed history, psychiatric and neurodevelopmental assessment, neuropsychological examination and speech/languâge evaluation. Comprehensive diagnoses were made on the basis of all the available information. In the total population, 63 children (10.7%) with disorders were identified, 10 of whom had a diagnosis established before the study. The prevalence rates for deficits in attention, motor control and perception (DAMP) were 5.3 to 6.9%, for attention deficit hyperactivity disorder (ADHD) they were 2.4 to 4.0% and for mental retardation, 2.5%. Co‐morbidity was established for ADHD on the one hand and DAMP, mental retardation and Tourette syndrome on the other. The findings suggest the need for a school entrant screening examination for the types of problems examined in this study. RÉSUMÉ Troubles neuro‐développementaux/neuro‐psychiatriques chez les enfants de 6 ans. Epidémiologic et co‐morbidité Une population totale de 589 enfants de 6 ans ont étéévalués pour la recherche de troubles neurodeveloppementaux/neuropsychiatriques par un questionnaire aux parents et aux enseignants d'ecole matemelle, et par examen des capacity motriqes au Child Health Center. Cinquante enfants positifs au depistâge et 50 enfants negatifs benficierent d'une evaluation neuropsychiatrique complete comprenant une anamnese detaillee, une evaluation neuropsychiatrique et neurodeveloppementale, un examen neuropsychologique et une évaluation de parole et langage. Des diagnostics globaux furent portes sur la base de toute reformation disponible. Dans la population totale, 63 (10.7%) enfants porteurs de troubles furent identifies, dix ď entre eux ayant fait l'objet d'un diagnostic avant ľ'étude. Les taux de prevalence dtaient de 5.3 a 6.9% pour les deficits en attention, coordination motrice et perception (DAMP), de 2.4 a 4.0% pour le trouble d'hyperactivite‐deficit d'attention (ADHD) et de 2.5% pour le retard mental. Une co‐morbidité a été (établie entre ADHD et DAMP, retard mental et syndrome de la Tourette. Les données le besoin d'un depistâge a l'entree de l'ecole pour les types de problemes recherches dans ľétude. ZUSAMMENFASSUNG Entwicklungsneurotogische/Neuro‐psychiatrische Erkrankungen bei sechsjiihrigen Kindern. Epidemiologie and Co‐Morbidität Insgesamt 589 sechsjahrige Kinder wurden anhand von Fragebogen fur Ehern und Vorschullehrer und von Untersuchungen der motorischen Fahigkeiten im Child Health Center auf entwicklungsncurlogische/neuropsychiatrische Erkrankungen untersucht. 50 Screen‐positive und 50 Screen‐negative Kinder wurden fur die vollstandige neuropsychiatrische Beurteilung ausgewahlt, die eine genaue Anamnese, psychiatrische und entwicklungsneurologische Untersuch...
Two ADHD subgroups (oppositional and less hyperactive/impulsive children) improved after 15-week EPA treatment. Increasing EPA and decreasing omega-6 fatty acid concentrations in phospholipids were related to clinical improvement.
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from Marfan syndrome (MFS). In many cases, the condition is caused by mutations in the fibrillin 2 gene (FBN2) with 26 mutations reported so far, all located in the middle region of the gene (exons 23-34). We directly sequenced the entire FBN2 gene in 32 probands clinically diagnosed with CCA. In 14 probands, we found 13 new and one previously described FBN2 mutation including a mutation in exon 17, expanding the region in which FBN2 mutations occur in CCA. Review of the literature showed that the phenotype of the FBN2 positive patients was comparable to all previously published FBN2-positive patients. In our FBN2-positive patients, cardiovascular involvement included mitral valve prolapse in two adult patients and aortic root enlargement in three patients. Whereas the dilatation regressed in one proband, it remained marked in a child proband (z-score: 4.09) and his father (z-score: 2.94), warranting echocardiographic follow-up. We confirm paradoxical patellar laxity and report keratoconus, shoulder muscle hypoplasia, and pyeloureteral junction stenosis as new features. In addition, we illustrate large intrafamilial variability. Finally, the FBN2-negative patients in this cohort were clinically indistinguishable from all published FBN2-positive patients harboring a FBN2 mutation, suggesting locus heterogeneity.
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