40 facts about Williams Syndrome

To celebrate the 40th anniversary of the Williams Syndrome Foundation and to raise awareness of Williams syndrome, we have put together 40 research-evidenced facts about Williams syndrome. Williams Syndrome is a rare genetic condition that is caused by a deletion of genetic material on the long arm of chromosome 7. It occurs sporadically in about 1 in 18,000 people. This fact sheet provides information on the medical aspects, brain development, cognitive and behavioural profiles, education, support and intervention and career outcomes of people with Williams syndrome, all of which are based on scientific research. These facts were randomly chosen from topics that we discussed during our lab meetings. This fact sheet can be used as a resource to pass on to family members, teachers and professionals

The home learning environment of primary school children with down syndrome and those with williams syndrome

Background and aims: Research on typically developing (TD) populations has shown that the home learning environment plays a significant role in cognitive development and learning, but very little is known about the home learning environment of children with Down syndrome (DS) or children with Williams syndrome (WS). The present study examined and compared, for the first time, the home learning environment of children diagnosed with DS and children diagnosed with WS to investigate whether different cognitive profiles were reflected in their home literacy and number experiences. Methods and procedures: Quantitative and qualitative data were collected through a web-based survey from 58 parents and one foster parent of primary school children with DS (n = 35) and WS (n = 24) mostly based in the UK. The survey targeted the children’s general level of functioning and academic skills; type, format, and frequency of home learning activities; parents’ expectations for their child’s academic outcomes; parents’ attitudes towards literacy and mathematics; children’s interest towards mathematics; and the use of technology to support home learning activities. Outcomes and results: Our results showed that, overall, the home learning environment of children with DS and children with WS were similar but changed based on the child’s cognitive profile. Comparative analyses showed that parents of children with DS engaged more often in activities supporting counting than parents of children with WS, despite both groups reporting difficulties with this skill. Moreover, our results indicated that literacy-based activities occurred more often than mathematics-based activities and that the home numeracy environment was characterized by activities supporting different mathematical skills such as counting, arithmetic, and numeracy. Parents in both groups engaged with their child in both formal and informal literacy and mathematics-based activities, but informal activities occurred more often when supporting counting and number recognition skills. Conclusions and implications: The current study provides evidence that the home learning environment of children with DS and children with WS include different literacy-and mathematics-based activities and that the home learning environment changes on the basis of the child’s strengths and weaknesses. The findings are discussed in relation to previous studies and the impact on parental interventions

Perceptual subitizing and conceptual subitizing in Williams syndrome and Down syndrome: Insights from eye movements

BACKGROUND AND AIMS: Mathematical difficulties in individuals with Williams Syndrome (WS) and in individuals with Down Syndrome (DS) are well-established. Perceptual subitizing and conceptual subitizing are domain-specific precursors of mathematical achievement in typically developing (TD) population. This study employed, for the first time, eye-tracking methodology to investigate subitizing abilities in WS and DS. METHODS AND PROCEDURES: Twenty-five participants with WS and 24 participants with DS were compared to a younger group of TD children (n = 25) matched for mental age. Participants were asked to enumerate one to six dots arranged either in a dice or a random pattern. OUTCOMES AND RESULTS: Accuracy rates and analyses of reaction time showed no significant differences between the clinical groups (WS and DS) and the control group, suggesting that all participants used the same processes to perform the enumeration task in the different experimental conditions. Analyses of the eye movements showed that both individuals with WS and individuals with DS were using inefficient scanning strategies when counting. Moreover, analyses of the eye movements showed significantly shorter fixation duration in participants with DS compared to the control group in all the experimental conditions. CONCLUSIONS AND IMPLICATIONS: The current study provides evidence that individuals with WS and individuals with DS perform both perceptual subitizing and conceptual subitizing. Moreover, our results suggest a fixation instability in DS group that does not affect their performance when subitizing but might explain their low accuracy rates when counting. Findings are discussed in relation to previous studies and the impact for intervention programmes to improve counting and symbolic mathematical abilities in these populations

Propolis induces AQP3 expression: A possible way of action in wound healing

Propolis is the generic name of a complex of resinous compound collected by honeybees and it has been utilized for many years in folk medicine. As other products generated by honeybees (such as royal jelly, pollen, honey), propolis has great therapeutic properties, but very little scientific information is available. Therefore, this study was aimed at exploring the potential wound healing properties of propolis. To that end, we utilized an in vitro scratch wound healing model consisting of human immortalized keratinocytes. Our scratch wound data clearly demonstrated that propolis induced a pronounced increase in the wound repair abilities of keratinocytes. A cell migration assay showed that propolis stimulated keratinocytes to close the wound. We revealed the role of H2O2 as the main mediator of propolis regenerative properties. We showed that this extracellularly released H2O2 could pass across the plasma membrane through a specific aquaporin (i.e., AQP3) modulating intracellular responses. The data offer a biological characterization of propolis positive effects suggesting that propolis could also be utilized in wound treatment within clinical settings

Understanding number line estimation in Williams syndrome and Down syndrome

Previous studies suggest that tasks dependent on the mental number line may be difficult for Williams Syndrome (WS) and Down Syndrome (DS) groups. However, few have directly assessed number line estimation in these groups. The current study assessed 28 WS, 25 DS and 25 typically developing (TD) participants in non-verbal intelligence, number familiarity, visuo-spatial skills and number line estimation. Group comparisons indicated no differences in number line estimation. However, the WS group displayed difficulties with visuo-spatial skills and the DS group displayed difficulties with number familiarity. Differential relationships between number line estimation and visuo-spatial/number familiarity skills were observed across groups. Data is discussed in the context of assessment of skills in neurodevelopmental disorders

A qualitative analysis of goals set by foster carers seeking support for their child’s emotional well-being

The needs of foster carers are complex as children in their care often present with complex emotional and behavioural difficulties. Previous studies have examined foster carers’ perceptions of the unmet needs of the children in their care but there is a lack of knowledge regarding carers’ own goals when seeking professional help. The present study seeks to fill this gap by examining the goals that carers who are looking after children with emotional and/or behavioural difficulties set at the start of an intervention, the Reflective Fostering Programme, designed to support them. Twenty-six foster carers were asked to complete a Goal-Based Outcome Measure (GBOM) before starting the programme. Qualitative content analysis revealed five main categories of goals. Three were child focused (child’s relationships, challenging behaviours and emotions) and two were foster carer focused (personal goals and goals related to participating in the programme). By understanding the types of goals meaningful to foster carers, interventions can be developed to better target their specific needs and allow outcome measures to be more closely aligned to their goals. Results are discussed in terms of implications for the development and evaluation of interventions to support foster carers and the children they look after

Vis-NIR luminescent lanthanide-doped core-shell nanoparticles for imaging and photodynamic therapy

The preparation of smart Ln:ZrO2@SiO2 nanoplatforms with grafted photosensitizer (Rose Bengal) which couple optical imaging with photo-dynamic therapy (PDT) is presented. A careful control of the lanthanide dopant loading is considered to enhance the photoemission properties of the lanthanide ions (Er, Pr, Yb) inside the ZrO2 crystal structure. The nanosystem with the lowest lanthanide loading maintains the size, phase and morphology of pristine ZrO2 nanoparticles and exhibit the best performances in term of the overall luminescence properties. Upon functionalization with a silica shell to covalently bound Rose Bengal, a theranostic platform is prepared which is very efficient in singlet oxygen generation, as demonstrated by EPR and UV\u2013vis spectroscopy studies. Preliminary cell viability tests show that while both pristine and Ln doped ZrO2 nanoparticles do not exert cytotoxicity, neither upon illumination nor in dark condition, Rose Bengal grafted samples are able to significantly reduce cell viability under light exposure, thus confirming the high potential of these nanoparticles as PDT tools

Deep Big Simple Neural Nets Excel on Handwritten Digit Recognition

Good old on-line back-propagation for plain multi-layer perceptrons yields a very low 0.35% error rate on the famous MNIST handwritten digits benchmark. All we need to achieve this best result so far are many hidden layers, many neurons per layer, numerous deformed training images, and graphics cards to greatly speed up learning.Comment: 14 pages, 2 figures, 4 listing

Alternating block copolymer-based nanoparticles as tools to modulate the loading of multiple chemotherapeutics and imaging probes

Abstract Cancer therapy often relies on the combined action of different molecules to overcome drug resistance and enhance patient outcome. Combined strategies relying on molecules with different pharmacokinetics often fail due to the lack of concomitant tumor accumulation and, thus, to the loss of synergistic effect. Due to their ability to enhance treatment efficiency, improve drug pharmacokinetics, and reduce adverse effects, polymer nanoparticles (PNPs) have been widely investigated as co-delivery vehicles for cancer therapies. However, co-encapsulation of different drugs and probes in PNPs requires a flexible polymer platform and a tailored particle design, in which both the bulk and surface properties of the carriers are carefully controlled. In this work, we propose a core-shell PNP design based on a polyurethane (PUR) core and a phospholipid external surface. The modulation of the hydrophilic/hydrophobic balance of the PUR core enhanced the encapsulation of two chemotherapeutics with dramatically different water solubility (Doxorubicin hydrochloride, DOXO and Docetaxel, DCTXL) and of Iron Oxide Nanoparticles for MRI imaging. The outer shell remained unchanged among the platforms, resulting in un-modified cellular uptake and in vivo biodistribution. We demonstrate that the choice of PUR core allowed a high entrapment efficiency of all drugs, superior or comparable to previously reported results, and that higher core hydrophilicity enhances the loading efficiency of the hydrophilic DOXO and the MRI contrast effect. Moreover, we show that changing the PUR core did not alter the surface properties of the carriers, since all particles showed a similar behavior in terms of cell internalization and in vivo biodistribution. We also show that PUR PNPs have high passive tumor accumulation and that they can efficient co-deliver the two drugs to the tumor, reaching an 11-fold higher DOXO/DCTXL ratio in tumor as compared to free drugs. Statement of Significance Exploiting the synergistic action of multiple chemotherapeutics is a promising strategy to improve the outcome of cancer patients, as different agents can simultaneously engage different features of tumor cells and/or their microenvironment. Unfortunately, the choice is limited to drugs with similar pharmacokinetics that can concomitantly accumulate in tumors. To expand the spectrum of agents that can be delivered in combination, we propose a multi-compartmental core-shell nanoparticles approach, in which the core is made of biomaterials with high affinity for drugs of different physical properties. We successfully co-encapsulated Doxorubicin Hydrochloride, Docetaxel, and contrast agents and achieved a significantly higher concomitant accumulation in tumor versus free drugs, demonstrating that nanoparticles can improve synergistic cancer chemotherapy

Robustness Verification of Support Vector Machines

We study the problem of formally verifying the robustness to adversarial examples of support vector machines (SVMs), a major machine learning model for classification and regression tasks. Following a recent stream of works on formal robustness verification of (deep) neural networks, our approach relies on a sound abstract version of a given SVM classifier to be used for checking its robustness. This methodology is parametric on a given numerical abstraction of real values and, analogously to the case of neural networks, needs neither abstract least upper bounds nor widening operators on this abstraction. The standard interval domain provides a simple instantiation of our abstraction technique, which is enhanced with the domain of reduced affine forms, which is an efficient abstraction of the zonotope abstract domain. This robustness verification technique has been fully implemented and experimentally evaluated on SVMs based on linear and nonlinear (polynomial and radial basis function) kernels, which have been trained on the popular MNIST dataset of images and on the recent and more challenging Fashion-MNIST dataset. The experimental results of our prototype SVM robustness verifier appear to be encouraging: this automated verification is fast, scalable and shows significantly high percentages of provable robustness on the test set of MNIST, in particular compared to the analogous provable robustness of neural networks