Disentangling the initiation from the response in joint attention: An eye-tracking study in toddlers with autism spectrum disorders

Joint attention (JA), whose deficit is an early risk marker for autism spectrum disorder (ASD), has two dimensions: (1) responding to JA and (2) initiating JA. Eye-tracking technology has largely been used to investigate responding JA, but rarely to study initiating JA especially in young children with ASD. The aim of this study was to describe the differences in the visual patterns of toddlers with ASD and those with typical development (TD) during both responding JA and initiating JA tasks. Eye-tracking technology was used to monitor the gaze of 17 children with ASD and 15 age-matched children with TD during the presentation of short video sequences involving one responding JA and two initiating JA tasks (initiating JA-1 and initiating JA-2). Gaze accuracy, transitions and fixations were analyzed. No differences were found in the responding JA task between children with ASD and those with TD, whereas, in the initiating JA tasks, different patterns of fixation and transitions were shown between the groups. These results suggest that children with ASD and those with TD show different visual patterns when they are expected to initiate joint attention but not when they respond to joint attention. We hypothesized that differences in transitions and fixations are linked to ASD impairments in visual disengagement from face, in global scanning of the scene and in the ability to anticipate object's action

Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as “molar tooth on imaging” (MTI) or the “molar tooth sign.” The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus “CORS2.” The acronym “CORS” is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes

Le applicazioni della Chimica Farmaceutica di Camille G. Wermuth

Medicinal Chemistr

Cognitive Empowerment with New Technologies Improves Neuropsychological and Neurophysiological Parameters in Rett Syndrome

The aim of the present study is to investigate if cognitive empowerment through Eye Tracker technologies increases both neuropsychological and neurophysiological measures in patients with RS. Since the residual capacity of the girls with Rett Syndrome to move the eye to communicate, eye tracker is a new technology that helps researchers to better study attention and cognitive processes in RS girls and can supply the lack of appropriate tests. Rett Syndrome (RS) is ain severe mental retardation and neuro-behavioral disability. Currently there are several attempts to improve RS cognitive processes through new technologies. The aim of this study is to investigate whether cognitive empowerment through eye tracking technology increases neuropsychological and neurophysiological measures in patients with RS. 12 girls with Rett Syndrome were trained to discriminate five stimuli of different semantic categories. Results show that all the parameters of discrimination task became more efficient. Neurophysiological parameters show an enhancement of vigilant state. Results were discussed in terms of the efficacy of cognitive empowerment

Cytoplasmic expression of oestrogen receptor beta (ER\u3b2) as a prognostic factor in vulvar squamous cell carcinoma in elderly women

AIMS: To investigate the prognostic value of cytoplasmic oestrogen receptor beta (ER\u3b2) expression in a series of untreated patients with non-human papillomavirus (HPV)-related vulvar cancer. METHODS AND RESULTS: Immunohistochemistry was carried out using a polyclonal rabbit anti-human ER\u3b2 antibody. The nuclear and cytoplasmic expression of ER\u3b2 was evaluated in 33 patients. Cytoplasmic immunoreactivity was correlated with histopathological and molecular parameters (Ki67, p21), disease-free survival (DFS) and overall survival (OS). The expression of cytoplasmic ER\u3b2 was found to be associated with grade (P=0.006), while no association was found with any of the remaining variables examined. Cases with high cytoplasmic ER\u3b2 expression showed lower DFS and OS compared to cases with low cytoplasmic ER\u3b2 (P=0.007, P=0.01, respectively). There was also a progressive decline in both the DFS and OS with increasing tumour size (P=0.05, P=0.07, respectively) and with increasing depth of infiltration (P=0.14, P=0.07, respectively). On multivariate analysis, only tumour size and cytoplasmic ER\u3b2 staining retained an independent negative prognostic role for DFS and OS. CONCLUSIONS: The assessment of cytoplasmic ER\u3b2 expression could be helpful to identify poor prognosis in elderly patients with non-HPV-related vulvar squamous cell carcinoma (SCC)

The PRIMA-PIETRA Project: A Web-Based Platform for Early Autism Risk Assessment

It is well recognized that the best outcomes in autism spectrum disorders (ASD) are achieved through early diagnosis and early intervention. ASD symptoms may occur as early as 12-18 months and different instruments have been developed for early autism risk assessment under the age of 2 years. The Modified Checklist for Autism in Children (M-CHAT) is a developmental surveillance-screening instrument administered during 18- to 36-month well-child visits that was demonstrated to improve early identification of autism. Novel technologies can substantially contribute to improve early diagnosis in ASD, providing early screening risk assessment platforms, unobtrusive measurements of behaviors and physiological responses, as well as brain structure and connectivity, or other measurable stimulus-event experimental paradigms. The Prima Pietra Project based at the Pervasive Healthcare Center of the Institute of Clinical Physiology of the National Research Council of Italy (Consiglio Nazionale delle Ricerche, C.N.R.) and the AOU Polyclinic "G. Martino" in Messina developed and provided an early autism risk assessment web-based platform for pediatricians and physicians available on the internet