Allocentric spatial perception through vision and touch in sighted and blind children.

Abstract Vision and touch play a critical role in spatial development, facilitating the acquisition of allocentric and egocentric frames of reference, respectively. Previous works have shown that children's ability to adopt an allocentric frame of reference might be impaired by the absence of visual experience during growth. In the current work, we investigated whether visual deprivation also impairs the ability to shift from egocentric to allocentric frames of reference in a switching-perspective task performed in the visual and haptic domains. Children with and without visual impairments from 6 to 13 years of age were asked to visually (only sighted children) or haptically (blindfolded sighted children and blind children) explore and reproduce a spatial configuration of coins by assuming either an egocentric perspective or an allocentric perspective. Results indicated that temporary visual deprivation impaired the ability of blindfolded sighted children to switch from egocentric to allocentric perspective more in the haptic domain than in the visual domain. Moreover, results on visually impaired children indicated that blindness did not impair allocentric spatial coding in the haptic domain but rather affected the ability to rely on haptic egocentric cues in the switching-perspective task. Finally, our findings suggested that the total absence of vision might impair the development of an egocentric perspective in case of body midline-crossing targets

Clinical assessment of the TechArm system on visually impaired and blind children during uni- and multi-sensory perception tasks

We developed the TechArm system as a novel technological tool intended for visual rehabilitation settings. The system is designed to provide a quantitative assessment of the stage of development of perceptual and functional skills that are normally vision-dependent, and to be integrated in customized training protocols. Indeed, the system can provide uni- and multisensory stimulation, allowing visually impaired people to train their capability of correctly interpreting non-visual cues from the environment. Importantly, the TechArm is suitable to be used by very young children, when the rehabilitative potential is maximal. In the present work, we validated the TechArm system on a pediatric population of low-vision, blind, and sighted children. In particular, four TechArm units were used to deliver uni- (audio or tactile) or multi-sensory stimulation (audio-tactile) on the participant's arm, and subject was asked to evaluate the number of active units. Results showed no significant difference among groups (normal or impaired vision). Overall, we observed the best performance in tactile condition, while auditory accuracy was around chance level. Also, we found that the audio-tactile condition is better than the audio condition alone, suggesting that multisensory stimulation is beneficial when perceptual accuracy and precision are low. Interestingly, we observed that for low-vision children the accuracy in audio condition improved proportionally to the severity of the visual impairment. Our findings confirmed the TechArm system's effectiveness in assessing perceptual competencies in sighted and visually impaired children, and its potential to be used to develop personalized rehabilitation programs for people with visual and sensory impairments

O13 Remission and LLDAS as a target for pregnancy planning in SLE?

n/

Comparison of some chemical parameters of a naturally debittered olive (Olea europaea L.) type with regular olive varieties

Some olives grown in Karaburun peninsula in the west part of Turkey and mostly coming from Erkence variety lose their bitterness while still on the tree and are called Hurma among locals. This olive type does not require further processing to remove the bitter compounds. In this study, sugar, organic acid and fatty acid profiles of Hurma, Erkence (not naturally debittered) and Gemlik (commonly consumed as table olive) olives were determined throughout 8 weeks of maturation period for two consecutive harvest seasons, and the results were analysed by principal component analysis (PCA). PCA of sugar and organic acid data revealed a differentiation in terms of harvest year but not on variety. Hurma olive is separated from others due to its fatty acid profile, and it has higher linoleic acid content compared to others. This might be an indication of increased desaturase enzyme activity for Hurma olives during natural debittering phase.TUBITAK (TOVAG-110O780

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases.Methods While most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known 'founder variants' in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in similar to 550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of similar to 600 JS probands from the USA.Results All variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216 c.218G>T) was significantly enriched in American compared with European patients with JS, while MKS1 c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes. Two recurrent variants (MKS1 c.1476T>G and KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from a MKS1 c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from a KIAA0586 c.428delG healthy homozygote.Conclusion This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants

Demographic, clinical, and service-use characteristics related to the clinician’s recommendation to transition from child to adult mental health services

Purpose: The service configuration with distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) may be a barrier to continuity of care. Because of a lack of transition policy, CAMHS clinicians have to decide whether and when a young person should transition to AMHS. This study describes which characteristics are associated with the clinicians’ advice to continue treatment at AMHS. Methods: Demographic, family, clinical, treatment, and service-use characteristics of the MILESTONE cohort of 763 young people from 39 CAMHS in Europe were assessed using multi-informant and standardized assessment tools. Logistic mixed models were fitted to assess the relationship between these characteristics and clinicians’ transition recommendations. Results: Young people with higher clinician-rated severity of psychopathology scores, with self- and parent-reported need for ongoing treatment, with lower everyday functional skills and without self-reported psychotic experiences were more likely to be recommended to continue treatment. Among those who had been recommended to continue treatment, young people who used psychotropic medication, who had been in CAMHS for more than a year, and for whom appropriate AMHS were available were more likely to be recommended to continue treatment at AMHS. Young people whose parents indicated a need for ongoing treatment were more likely to be recommended to stay in CAMHS. Conclusion: Although the decision regarding continuity of treatment was mostly determined by a small set of clinical characteristics, the recommendation to continue treatment at AMHS was mostly affected by service-use related characteristics, such as the availability of appropriate services

Cohort profile : demographic and clinical characteristics of the MILESTONE longitudinal cohort of young people approaching the upper age limit of their child mental health care service in Europe

Purpose: The presence of distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) impacts continuity of mental health treatment for young people. However, we do not know the extent of discontinuity of care in Europe nor the effects of discontinuity on the mental health of young people. Current research is limited, as the majority of existing studies are retrospective, based on small samples or used non-standardised information from medical records. The MILESTONE prospective cohort study aims to examine associations between service use, mental health and other outcomes over 24 months, using information from self, parent and clinician reports. Participants: Seven hundred sixty-three young people from 39 CAMHS in 8 European countries, their parents and CAMHS clinicians who completed interviews and online questionnaires and were followed up for 2 years after reaching the upper age limit of the CAMHS they receive treatment at. Findings to date: This cohort profile describes the baseline characteristics of the MILESTONE cohort. The mental health of young people reaching the upper age limit of their CAMHS varied greatly in type and severity: 32.8% of young people reported clinical levels of self-reported problems and 18.6% were rated to be ‘markedly ill’, ‘severely ill’ or ‘among the most extremely ill’ by their clinician. Fifty-seven per cent of young people reported psychotropic medication use in the previous half year. Future plans: Analysis of longitudinal data from the MILESTONE cohort will be used to assess relationships between the demographic and clinical characteristics of young people reaching the upper age limit of their CAMHS and the type of care the young person uses over the next 2 years, such as whether the young person transitions to AMHS. At 2 years follow-up, the mental health outcomes of young people following different care pathways will be compared. Trial registration number: NCT03013595

Leukopenia, lymphopenia, andneutropenia in systemic lupus erythematosus: Prevalence and clinical impact--A systematic literature review

OBJECTIVE: To systematically review the available evidence to evaluate (1) the prevalence and degree of leukopenia, lymphopenia, and neutropenia in patients with systemic lupus erythematosus (SLE), (2) whether these conditions carry a major infection risk for patients, and (3) whether a treatment with colony stimulating factors (CSF) can be an effective and safe option in SLE patients with leukopenia. MATERIAL AND METHODS: MedLine and Embase were searched by including MeSH terms, text words, and subheadings "systemic lupus erythematosus," "leukopenia" (first search), and "colony stimulating factor" (second search). Inclusion and exclusion criteria were a priori defined and two reviewers screened the retrieved articles for selection criteria; data from the included studies were recorded in ad hoc standard forms; the results were synthesized and transported to evidence tables. RESULTS: A total of 17 articles were included in the systematic literature review: nine articles were retrieved for the first research question and 11 for the second while no articles satisfied the inclusion criteria for the third research question. The prevalence of leukopenia is reported in 22-41.8% of cases and lymphopenia is reported cumulatively from 15% to 82% of the patients while neutropenia is described in 20-40% of the patients. There is no evidence of a significant association between overall reduction of white blood cells and infection occurrence while some studies found a strong association between low lymphocytes/neutrophils count and the risk of major infections. Only case reports and case series have been found to investigate the safety of CSF in SLE patients. CONCLUSIONS: The results of this systematic literature review are inconclusive for many aspects related to the original research questions and highlight the need for further studies. Indeed, the strength of the evidence is not sufficiently robust to draw specific recommendations on how to balance between the need to treat the patient with SLE with immunosuppressive drugs and the risk of severe infections