1,720,980 research outputs found
Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome
Full text linkBackground/Objectives: Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by aberrations in the NFIX gene, located at chromosome 19p13.2. Key features of MALNS include general overgrowth, a typical facial gestalt, muscle–skeletal abnormalities, speech difficulties and intellectual disability. Additionally, MALNS frequently presents with autism-like behaviour and social challenges. However, characterisation of the cognitive profile of MALNS, including social perception skills, is limited. Methods: Six children and adolescents with MALNS, whose clinical and emotional–behavioural features had been described in previous studies, were assessed by means of a single, co-normed neuropsychological battery covering multiple cognitive domains. Results: Consistent with their intellectual disability, performance was generally weak across all neuropsychological subtests. Nonetheless, memory for faces, visual attention and contextual (non-verbal) theory of mind emerged as relative strengths of the profile, both at group and individual levels. Conversely, tasks requiring verbal reasoning and language comprehension, such as comprehension of instructions and verbal theory of mind, represented weaknesses for all participants. Conclusions: These findings provide a further characterisation of cognitive and social functioning in MALNS, which can inform future research as well as clinical practice and rehabilitatio
Maternal sensitivity is associated with configural processing of infant's cues in preterm and full-term mothers
No full textBackground: Prematurity may affect mother-infant bonding and alter maternal sensitivity to infant's cues. Efficient perception of infants' facial and bodily cues is a crucial aspect of maternal sensitivity and may be challenged by prematurity, as infants' signals may not be easily intelligible. However, it is still unexplored how premature birth impacts the maternal ability to perceive infants' signals. Aims: To investigate whether prematurity influences the perceptual sensitivity of mothers to infants' cues and, in particular, the configural processing of the faces and bodies of familiar and unfamiliar infants. Study design: The inversion effect paradigm was used to evaluate the configural vs. detail-based processing of the face and body of own or others' infants. Preterm mothers were compared to full-term mothers with either low or high maternal sensitivity. Participants: Forty-three healthy full-term and twenty-one preterm mothers of infants aged about six months. Outcome measures: Maternal sensitivity during dyadic interaction, gestational age, accuracy and reaction time in a delayed matching-to-sample task of upright vs. inverted body and face stimuli (i.e., inversion effect). Results: Preterm mothers were found to be less sensitive than the full-term ones. Higher maternal sensitivity during dyadic interaction was associated with lower inversion effect for unfamiliar as compared to own infants' bodies. However, preterm mothers and full-term mothers with low sensitivity showed comparable inversion effect in perceiving unfamiliar infants' faces or bodies. Conclusions: Preterm birth per se does not directly affect body configural processing, but it may be associated to reduced maternal sensitivity, ultimately leading to a less refined perception of own infant's cues
Body Processing in Children and Adolescents with Traumatic Brain Injury: An Exploratory Study
Full text linkDysfunctions in body processing have been documented in adults with brain damage, while limited information is available for children. This study aimed to investigate body processing in children and adolescents with traumatic brain injury (TBI) (N = 33), compared to peers with typical development. Two well-known computerized body-representation paradigms, namely Visual Body Recognition and Visuo-spatial Imagery, were administered. Through the first paradigm, the body inversion and composite illusion effects were tested with a matching to sample task as measures of configural and holistic processing of others’ bodies, respectively. The second paradigm investigated with a laterality judgement task the ability to perform first-person and object-based mental spatial transformations of own body and external objects, respectively. Body stimuli did not convey any emotional contents or symbolic meanings. Patients with TBI had difficulties with mental transformations of both body and object stimuli, displaying deficits in motor and visual imagery abilities, not limited to body processing. Therefore, cognitive rehabilitation of body processing in TBI might benefit from the inclusion of both general training on visuo-spatial abilities and specific exercises aimed at boosting visual body perception and motor imagery
Premature birth affects visual body representation and body schema in preterm children
No full textResearch has demonstrated that from the first six months of life infants show early sensitivity to body visual features and rely on sensorimotor and proprioceptive inputs in forming representations of their own bodies. Premature birth interferes with typical exposition to visual, sensorimotor and proprioceptive stimulation, thus presumably affecting the development of body representations. Here, we tested this hypothesis by comparing the performance of preterm children with that of age-matched full-term children in two tasks assessing, respectively, visual body processing and body schema. We found that preterm children had spared configural processing but altered holistic processing of others’ bodies and showed a general difficulty in expressing visuospatial judgements on body stimuli. Furthermore, body-centered visuospatial abilities were associated with specific impairments in operating object-based visuospatial transformations. The findings of this study indicate that preterm birth might interfere with the development of body representations at the levels of body visual perceptual processing and of body schema, with effects even on visuo-spatial abilities for non-bodily stimuli. Body-centered rehabilitative interventions should be proposed to preterm children in order to enhance visuo-spatial abilities and higher-level cognitive functions
Cognitive, Social, and Emotional-Behavioral Outcomes in Children and Adolescents With Beckwith–Wiedemann Syndrome
Full text linkAlthough Beckwith–Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp. Moreover, research has documented social difficulties and emotional-behavioral problems associated with BWSp. Nevertheless, a full characterization of socio-emotional development in BWSp is still lacking. In the current study, cognitive and socio-emotional development was assessed in 29 children with BWSp aged 5–18 years, using a test of nonverbal intelligence, a neuropsychological battery covering multiple domains, academic skills tests, and questionnaires evaluating autistic traits and emotional-behavioral problems. As expected, most participants showed adequate performance in cognitive tests. However, the findings also highlighted greater difficulties in language than visuospatial processing, strengths in social perception, as well as slowness in reading and mental calculation. The assessment of emotional-behavioral difficulties indicated a prevalent phenotype characterized by increased anxiety, low self-esteem, social withdrawal and a tendency to control externalizing reactions, but no associations with autistic traits, cognitive outcomes, and the clinical score proposed by the recent Consensus statement. Increased social perception and internalization problems likely result from coping strategies with social and care-related stress. Overall, the findings of this study inform clinical management and genetic counseling for children and adolescents with BWSp
Psychosocial Difficulties in Preschool-Age Children with Beckwith-Wiedemann Syndrome: An Exploratory Study
Full text linkBeckwith-Wiedemann syndrome (BWS) is a rare overgrowth disease and is not usually associated with intellectual delay. Living with a chronic illness condition such as BWS, however, might affect emotional-behavioral functioning and psychosocial development. To investigate this issue, parents of 30 children with BWS between 1.5 and 6 years old compiled standardized questionnaires assessing the presence of emotional-behavioral and developmental problems. The group mean scores in each scale of behavioral problems fell within the average range. Nevertheless, 23% of the sample presented scores beyond the risk threshold for social withdrawal. As regards psychomotor development, a lower mean score was reliable in the social domain compared to other developmental scales, and in the gross-motor compared to fine-motor functions. Moreover, scores in the at-risk band were reliable in almost half of the children for social development. Notably, older age was overall associated with higher emotional-behavioral and developmental difficulties, while no other socio-demographic or clinical variables accounted for the scores obtained in the questionnaires. These findings ask for a wider consideration by health and educational professionals of the psychosocial functioning of children with BWS, so as to early detect at-risk conditions and eventually promote adequate interventions
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
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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