1,720,973 research outputs found
How early is it possible to predict cerebral palsy and to differentiate between the spastic and the dyskinetic forms?
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Shifting of the body center of gravity in low-risk preterm infants: A video-pedoscope study
No full textAim: To evaluate whether there is any developmental course of the shifting of the center of gravity (COG) in healthy preterm infants. Methods: Eleven healthy preterm infants were assessed on a computerized pedoscope from early preterm to term age. Data from the pedoscope and the videorecorder were analyzed with a special software for the assessment of the COG shifting. Infants were placed on the pedoscope in supine position for 5 min. We scored the positions of the COG during its shifting, the body parts most frequently involved in its shifting and the shifting’ amplitude at each epoch. We scored the frequency of the COG shifting in head, trunk and bottom, its direction and amplitude using a semi-quantitative scale. Results: A developmental course of the COG shifting from preterm throughout post-term ages was demonstrated, with COG position displaced from head to bottom. The shifting amplitude decreased with increasing age. Lateral shifting were never observed. Interpretation: The developmental course of the COG shifting suggests the maturation of postural behaviour in healthy preterm infants. The displacement of the COG from head to bottom and the reduced amplitude of the COG shifting from preterm to post-term age indicates a more stable body position
[P1.02]: Specific atypicality in preserved speech variant?
No full textIntroduction Rett syndrome, caused by mutations in the gene MECP2 for methyl‐CpG‐binding protein 2, begins in seemingly normal 6‐ to 18‐month‐old children. MECP2 is primarily expressed in the brain, in neurons, when they become functionally mature, and before synaptogenesis. Classic Rett syndrome has been reported in one in 10,000 females, and the atypical form (variants), implying the absence of one or more expected signs, in as many as one in 5000 females. The main issues addressed refer to the developmental course and its early (specific) signs of a rare atypical form of Rett, the Preserved Speech Variant. Methods Case report: One girl with a MECP2 mutation (del(378‐43)‐964 ins965GA) meeting clinical criteria for Preserved Speech Variant, was longitudinally observed from 6 months to 10 years of age. As the diagnosis was approved by mutation testing at the girl's age of 4 years, we retrospectively analysed family videos and the clinical history up to this age. Furthermore, we prospectively applied the following methods up to 10 years: the Austrian Rett Survey; behavioural observation in her natural surroundings (video data); assessment of severity in Rett syndrome; optimality questionnaires; Austrian Communicative Development Inventories; spontaneous speech samples; language development tests. Results Episodic events of atypical and stereotyped motor and (pre‐)linguistic behaviour increased over time and became predominant at two years of age, the onset of regression. A peculiar quality of early motor patterns as well as communicative idiosyncrasies were among the deviant patterns observed. Discussion The comprehensive analyses suggest a qualitative deviation already during the pre‐regression period that impacts on the entire developing neuro‐cognitive system. The unique possibility to “look back” gives new insights into the genetic interference with normal brain development
[P2.01]: A possible association between genotypes and early signs of Rett disorder
No full textntroduction An apparently normal early development was one of the initial criteria for classic Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder manifesting very soon after birth. Different types and positions of the MECP2 mutations and a variable pattern of x‐inactivation contribute to the range of severity of this disorder. Methods Videos of 28 Rett cases of various genotypes were carefully assessed for movements, posture and behaviour during the first 6 months of life. All signs, which deviated from the normal standard, were recorded meticulously. Special attention was paid to the face, the hands and to body movements. Results A detailed analysis clearly demonstrated the following early abnormal signs: tongue protrusion, asymmetric eye opening and closing, bursts of abnormal facial expressions, bizarre smile, abnormal finger movements, hand stereotypes, an abnormal quality of general movements, postural stiffness, tremor and stereotyped body movements. R168X and R255 mutations were associated with the earliest onset (first days of life) of these abnormal signs. Discussion Rett disorder is manifest within the first months of life. Those MECP2 mutations associated with the most severe clinical phenotype were also associated with an earlier onset of abnormal signs
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
The early markers for later dyskinetic cerebral palsy are different from those for spastic cerebral palsy
No full textRole of vision on early motor development: lessons from the blind
No full textFor a better understanding of the contribution vision makes to the development of other sensory systems and to movement and posture, we studied effects of early blindness by examining video recordings of 14 totally blind infants. Infants were born at term or preterm and showed no evidence of brain damage. During preterm and term periods no noticeable changes in motor activity were observed. Around 2 months postterm all infants showed clear delay in head control and abnormal, exaggerated type of 'fidgety movements'. Later, postural control was characterized by a prolonged period of ataxic features. Results indicate a lack of normal calibration exerted by vision on proprioceptive and vestibular systems. Early visuomotor coordination such as coordinated eye-head scanning and head orientating were present but disappeared after several weeks
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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