133 research outputs found
The contribution of environmental exposure to the etiology of autism spectrum disorder
No full textAutism spectrum disorder (ASD) is a neurodevelopmental condition of heterogeneous etiology. While it is widely recognized that genetic and environmental factors and their interactions contribute to autism phenotypes, their precise causal mechanisms remain poorly understood. This article reviews our current understanding of environmental risk factors of ASD and their presumed adverse physiological mechanisms. It comprehensively maps the significance of parental age, teratogenic compounds, perinatal risks, medication, smoking and alcohol use, nutrition, vaccination, toxic exposures, as well as the role of extreme psychosocial factors. Further, we consider the role of potential protective factors such as folate and fatty acid intake. Evidence indicates an increased offspring vulnerability to ASD through advanced maternal and paternal age, valproate intake, toxic chemical exposure, maternal diabetes, enhanced steroidogenic activity, immune activation, and possibly altered zinc–copper cycles and treatment with selective serotonin reuptake inhibitors. Epidemiological studies demonstrate no evidence for vaccination posing an autism risk. It is concluded that future research needs to consider categorical autism, broader autism phenotypes, as well as autistic traits, and examine more homogenous autism variants by subgroup stratification. Our understanding of autism etiology could be advanced by research aimed at disentangling the causal and non-causal environmental effects, both founding and moderating, and gene–environment interplay using twin studies, longitudinal and experimental designs. The specificity of many environmental risks for ASD remains unknown and control of multiple confounders has been limited. Further understanding of the critical windows of neurodevelopmental vulnerability and investigating the fit of multiple hit and cumulative risk models are likely promising approaches in enhancing the understanding of role of environmental factors in the etiology of ASD
Do fidgety general movements predict cerebral palsy and cognitive outcome in clinical follow-up of very preterm infants?
No full textThe influence of preterm birth on expressive vocabulary at the age of 36 to 41 months
No full textChildren born preterm (PT) have a higher risk of language delays than children born full-term (FT). Expressive vocabulary plays a central role in language development, as later grammar ability can be predicted from earlier vocabulary size. To determine the effects of preterm birth on expressive vocabulary at the age of 36 to 41 months. Cross-sectional study of 27 PT (children with a gestational age of ≤ 32 + 0 weeks and/or a birth weight ≤ 1500 g) and 26 FT children (from several kindergartens in Vienna, Austria). The groups were matched regarding age, sex, and monolingual Austrian German speech. They were all examined using the active vocabulary test (AWST-R) and the development test, Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III). The AWST-R revealed significantly lower scores (46% vs 52%, P = .027) for PT children. The Bayley-III revealed significantly lower scores in language development (mean 96.3 ± 11.81 vs 105.1 ± 6.24, P = .002) and the expressive communication subscale (8.78 ± 2.01 vs 10.69 ± 1.49, P < .001) for PT children, but no differences in cognitive development (98.5 ± 11.08 vs 100.8 ± 6.43, P = .369) or on the receptive communication subscale (10.15 ± 2.23 vs 11.08 ± 1.09, P = .060). Preterm children tested had less expressive vocabulary (AWST-R and Bayley-III) than those born full-term, while test results in their cognitive development and receptive communication (Bayley-III) did not differ
Funktionelle Hirnentwicklung beim Rett Syndrom: frühe Auffälligkeiten und funktionsdiagnostische Besonderheiten
No full textRett Syndrom, benannt nach dem österreichischen Kinderneurologen Andreas Rett, ist eine schwerwiegende neurologische Erkrankung, die hauptsächlich bei Mädchen auftritt. Als ursächlich gelten vor allem Mutationen am MECP2 Gen bzw. in selteneren Fällen am FOXG1 Gen oder dem CDKL5 Gen. Es gibt jedoch einerseits Mädchen mit MECP2 Mutation, die keinen Rett Phänotyp entwickeln und andererseits Mädchen mit dem klinischen Bild von Rett Syndrom, die keine Mutationen aufweisen, weshalb die Diagnostik primär eine klinische ist. In der klinischen Versorgung der Patientinnen ist vor allem die neurophysiologische Untersuchung mit ihren vielfältigen Methoden unentbehrlich. In der Regel verläuft die Pathogenese der unterschiedlichen Phänotypen − vom klassischen Rett Syndrom, der kongenitalen Variante, Forme Fruste Rett, Early Onset Seizure Variante, der männlichen Rett Variante bis hin zur Preserved Speech Variante − vierphasig. Bis vor kurzem war ein unauffälliger Verlauf der frühkindlichen Entwicklung eines der Definitionskriterien für Rett Syndrom. Neueste Forschungen haben jedoch gezeigt, dass selbst die ersten Lebensmonate nicht symptomfrei sind. Unser Ziel ist es, einen Beitrag zur Früherkennung und Dokumentation früher neurophysiologischer Besonderheiten und somit einen Beitrag zum Verständnis der Hirnentwicklung und dem Einfluss von MECP2 Mutationen auf neurofunktionelle Besonderheiten vor der Regression zu leisten.Rett syndrome, first described by the Austrian neurologist Andreas Rett (1966), is a profoundly disabling neurodevelopmental disorder that is almost entirely confined to females. The mutations in the X-linked gene MECP2, which were identified as the main cause for Rett syndrome, span a broad spectrum of phenotypes − from classic Rett to milder variants with better speech, language and motor abilities (preserved speech variant; PSV). On the other hand, there are also patients with Rett syndrome caused by mutations in other genes (e. g., FOXG1, CDKL5) as well as patients with MECP2 mutations who show no clinical signs. Therefore, the clinical criteria of this disorder are of utmost importance for its early identification and delineation. Although an apparently normal early development had initially been regarded as one of the criteria for classic Rett syndrome, various scientists considered the disorder to be a developmental disorder that manifests shortly after birth. Affected girls usually follow a four-stage developmental trajectory, with most of them undergoing a profound deterioration of neurofunctions (pre-regression period, regression period/rapid destructive stage, the pseudo-stationary stage, and the late deterioration stage). Our aim is to give an insight into the delineation of early signs of this developmental disorder as well as its various neurophysiological correlates. It is thus a contribution to early detection for early clinical trials, and is based on the detailed longitudinal research that we have been conducting so far
Number word use in toddlerhood is associated with number recall performance at seven years of age
No full textPrevious studies have shown that verbal working memory and vocabulary acquisition are linked in early childhood. However, it is unclear whether acquisition of a narrow range of words during toddlerhood may be particularly related to recall of the same words later in life. Here we asked whether vocabulary acquisition of number words, location and quantifier terms over the first three years of life are associated with verbal and visuospatial working memory at seven years. Our results demonstrate that children who produced more number words between 20-26 months and started to produce the number words 1-10 earlier showed greater number recall at 7 years of age. This link was specific to numbers and neither extended to quantifier and location terms nor verbal and visuospatial working memory performance with other stimuli. These findings suggest a category-specific link between the mental lexicon of number words and working memory for numbers at an early age. © 2014 Libertus et al
Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome
No full textThe subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life.Austrian Science Fund FWF [P 19581
A longitudinal study on hand use while building a tower
No full textThe aim of the study was to describe a developmental trend of hand use for picking up and stacking blocks from the age of 18 months to 7 years. A second aim was to determine whether there is a relationship between right-hand use while building a tower and manual laterality at school age. A total of 28 children were asked to build a tower at five longitudinal assessments. The use of the right hand fluctuated considerably with age (p<.05), but no age-related increase was observed. Right-hand use was rather prominent at 18 months, decreased significantly at 26 months, increased at age 4;7, decreased again at 5;7, and finally increased again at age 7. From age 4;7 onwards, the percentage of right-hand use for stacking the blocks was significantly (p<.05) related to the laterality quotient at school age
Preference-enhanced communication intervention and development of social communicative functions in a child with autism spectrum disorder
No full textEn route to disentangle the impact and neurobiological substrates of early vocalizations: Learning from Rett syndrome
No full textResearch on acoustic communication and its underlying neurobiological substrates has led to new insights about the functioning of central pattern generators (CPGs). CPG-related atypicalities may point to brainstem irregularities rather than cortical malfunctions for early vocalizations/babbling. The vocal pattern generator, together with other CPGs, seems to have great potential in disentangling neurodevelopmental disorders and potentially predict neurological development
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