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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child's development and the entire family. Parents' answers demonstrated that their child's illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.

Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar to those presented in literature for their main features. In particular, two elements are interesting: i) the exceptional diffusion of the red nevousto the whole hemicorpo; and ii) the evaluation of the way the patients live the disease, which has not beenpreviously considered in literature. We can conclude that SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmological, and other medical issues that can arise and impact on the neurological status of the patients.

Impairment of intelligence in Duchenne muscular dystrophy (DMD) patients was described by Duchenne de Boulogne himself in 1868. Further studies report intelligence disorders with mayor impairment of memory. The aim of the present study was to assess the presence of affective and personality disorders in a group of children affected by DMD. Twenty six male DMD patients, mean age eleven and four months years old, were assessed for their affective and personality disorder. Only eight subjects had a total IQ below average with major difficulties in verbal and visual-spatial memory, comprehension, arithmetic and vocabulary. All the subjects presented some disorders: tendency to marginalization and isolation, self-depreciation, sense of insecurity, hypochondriac thoughts and marked state of anxiety. These disorders are often a dynamic prolongation of a psychological process which starts when the diagnosis is made and continues, in a slow and latent fashion, throughout the evolution of the disease.

The emerging challenges of the tourism market determine a strategic and urgent need to introduce the sustainability paradigm into destination planning in order to pursue balanced development and achieve or maintain a long-term competitive advantage. This chapter focuses on destination governance to build projects on the principles of sustainability by involving local stakeholders in decision making. The discussion on the application of an embedded governance model relates to marginal rural areas of Central European countries (Italy, Austria, Germany, the Czech Republic, Poland, and Slovenia), where the European Project Listen to the Voice of Villages leverages sustainable tourism to improve the welfare and quality of life of local communities.

The paper aims to investigate the role of the network in managing the tradition and innovation paradox in the agribusiness industry. In particular, this study aims to demonstrate that agribusiness firms can innovate through tradition by joining a network, to capture the way intellectual capital (IC) is created, shared and transformed.

The authors approached the study using the social capital conceptual framework, considering the network a critical determinant of social capital, which enhances the organization's ability to share, create and utilize knowledge. Then, the authors also employed the extended territorial strategy theory. The authors derived empirical evidence from companies belonging to the PGI-labeled Consortium of Pasta di Gragnano (Consortium). The authors used a quantitative approach, carrying out a panel data analysis.

The results suggested that belonging to Consortium had a positive impact on the operating performance, the financial performance and the environment where consortium firms operate. Thus, being part of a network helps firms to innovate in a traditional industry.

The evidence of this work provided several implications for managers, IC community and the policy public. For managers, the authors observed that agribusiness firms can preserve their traditions through knowledge sharing with firms that operate in the same network. For IC community, the authors contributed to the debate on the social capital theory, arguing that the one area of IC that has received significant attention is the role of the network, which enhances the organization's ability to generate, share and apply knowledge effectively (Lin, 2017; Solitander and Tidström, 2010). Finally, the authors argued that policymakers should implement new reforms that facilitate the formation of networks, especially in socio-economic contexts where the unemployment rate is high.

This is the first study that employs quantitative analysis to investigate this paradox.

The purpose of this paper is to elicit the expectations for resilient post-disaster rebuilds from Caribbean project end-users. In anticipation of future climatological, meteorological, hydrological or geophysical disasters disaster, key stakeholders can articulate and incorporate strategies for resilience development, thus leading to improved end-users’ satisfaction and confidence.

This paper engages the results of a systematic literature review that identified 24 empirical resilience factors for post-disaster reconstruction projects. These factors informed a semi-structured questionnaire to elicit the perspectives of Caribbean end-users on a seven-point Likert scale. The quantitative analysis of both factor ranking and principal component analysis was performed to identify correlations and provides further interpretations on the desires of the end-users for resilient rebuilds.

The results presented in this paper highlight the collective perspectives on the Caribbean end-users on what they perceived to be aiding more resilient reconstruction projects. They identified reconstruction designs mindful of future hazards, policies that aid climate change mitigation, active assessment of key structures, readily available funding sources and ensuring stakeholder’s unbiased interest as the top-most empirical factors. Factor analysis suggested collaborations with inclusive training and multi-stakeholder engagement, critical infrastructure indexing and effective governance as the critical resilience development factors.

To the best of the authors’ knowledge, this paper is first of its kind to explore the perspective of the Caribbean people regarding disaster reconstruction projects. It addresses developmental avenues for measurement indicators towards resilience monitoring and improvement. Additionally, the perspectives can provide construction industry professionals with tools for improved operational resilience objective-setting guidance, for Caribbean construction.