Prader-Willi Syndrome with Angelman Syndrome in the Offspring.

We report the second case, to the best of our knowledge, of a mother with Prader-Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1-15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality.

Clinical management of individuals with Intellectual Disability: The outbreak of Covid-19 pandemic as experienced in a clinical and research center Research in Developmental Disabilities.

During the COVID-19 pandemic, the Oasi Research Institute of Troina (Italy) became an important hotbed for infection; in fact, 109 patients with different levels of Intellectual Disability (ID) tested positive for COVID-19. The procedures and interventions put in place at the Oasi Research Institute due to the COVID-19 pandemic are exhaustively reported in this paper. The description of the clinical procedures as well as remote/in person psychological support services provided to people with ID and their families are here divided into three different sections: Phase I (or Acute phase), Phase II (or Activity planning), and Phase III (or Activity consolidation). In each section, the main psycho-pathological characteristics of patients, the reactions of family members and the multidisciplinary interventions put in place are also described.

[Neuropsychological profiles, personality features and familial relational patterns in parents of children with Autism Spectrum Disorders]. / Profilo neuropsicologico, caratteristiche di personalità e dinamiche familiari nei genitori di bambini con disturbo dello spettro dell'autismo.

INTRODUCTION: The study of neuropsychological profiles and personality features of parents of persons with Autism Spectrum Disorder (ASD) has highlighted specific traits that turned out to be useful for diagnostic purposes. AIM AND METHODS: In our study, psychodiagnostic measures have been used to investigate cognitive profiles, personality features and familial relational patters in a group of parents of children with ASD associated to Intellectual Disability (ID). This group was then compared with a another group of parents of children with Prader-Willi syndrome. RESULTS: Results show no differences between the two groups with regard to Intellectual Quotient, while significant differences were found at the intelligence test Wechsler, which partially confirmed data from the literature relating to the performances of parents of persons with ASD. No differences were found in the executive functioning and memory abilities. As for familial relational patters, families of children with ASD showed decreased cohesion and higher disengagement. DISCUSSION AND CONCLUSIONS: Results obtained in the domains of familial relational patterns and emotional personality components seem to confirm how children's disability can significantly impact on the entire household, in particular in the case of children with ASD. This data suggest the need for intervention programs aimed at supporting the entire household, with the objective of improving coping strategies and resilience resources of the family.

PGSE-NMR and SANS studies of the interaction of model polymer therapeutics with mucin.

The viscous mucus coating that adheres to the epithelial surfaces of mammalian organs provides protection for the underlying tissues and is an efficient barrier to drug delivery. Pulsed-gradient spin-echo NMR and small-angle neutron scattering have been used to study the aqueous solution interaction of various model polymer therapeutics with mucin, the principle organic component within mucus. Nonionic polymers such as linear and star-branched poly(ethylene oxide) (PEO) and dextrin showed no appreciable interaction with mucin but suffered a moderate retardation in their rate of diffusion through the mucin solution. A strong interaction with mucin was observed for a series of polyamidoamine (PAMAM) dendrimers and hyperbranched poly(ethylene imine) (PEI), which displayed a characteristic pH-dependent profile and led to significant reductions in their rates of diffusion. These observations have implications for the design of optimized polymer therapeutic structures being adopted for the delivery of therapeutic moieties through mucin-rich environments.

Quantifying diffusion in mucosal systems by pulsed-gradient spin-echo NMR.

Mucus, a thick and slimy secretion produced by submucosal cells, covers many epithelial surfaces in mammalian organs and prevents foreign particles that enter the body from accessing cells. However, the mucus layer also represents a potential barrier to the efficient delivery of nano-sized drug delivery systems (polyplexes, lipoplexes, particles) to the underlying mucosal epithelium. Many studies have considered the ability of nano-sized particles and polymers to diffuse within the mucosal network using a range of different techniques, including multiple-particle tracking (MPT), diffusion chamber studies and fluorescence recovery after photobleaching (FRAP). This review highlights the current understanding of the interaction of the diffusion of nano-sized structures within mucosal networks. Moreover, this article presents an introduction to pulsed-gradient spin-echo NMR (PGSE-NMR), a potential new tool to investigate the mobility of molecular species through mucosal networks and related biological gels.