Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and dysphagia in patients with RS. Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of dysphagia (absent, mild, moderate or severe) and malocclusion (4 mm). Results: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe dysphagia. Four (7.1%) patients had 4 mm occlusion. Mild dysphagia was observed in 100% and 40% of patients with 4 mm malocclusion, respectively. There was a significant correlation between dysphagia and malocclusion severity (P <0.001). Conclusion: A higher degree of malocclusion was associated with more severe dysphagia among a cohort of patients with RS. Keywords: X-Linked Mental Retardation; Rett Syndrome; Dysphagia; Malocclusion; Feeding and Eating Disorders of Childhood

Foscolo critico

Il volume, primo della collana open access dei "Quaderni di Gargnano", ospita i contributi presentati al XV Convegno internazionale di Letteratura italiana "Gennaro Barbarisi", tenutosi a Gargnano del Garda dal 24 al 26 settembre 2012. Il "Quaderno", dedicato al Foscolo critico, accoglie contributi di Giovanni Biancardi, Arnaldo Bruni, Andrea Campana, Massimo Castellozzi, Gustavo Costa, Alfredo Cottignoli, Christian Del Vento, Sandro Gentili, Franco Longoni, Ilaria Mangiavacchi, Donatella Martinelli, Giuseppe Natale, Enzo Neppi, Matteo Palumbo, Elena Parrini Cantini, Chiara Piola Caselli. \uc8 aperto da una Prefazione di Claudia Berra, Paolo Borsa e Giulia Ravera.This volume on "Foscolo critico" is the first volume of the "Quaderni di Gargnano", an open access book series which publishes the Proceedings of the "Gennaro Barbarisi" International Conferences on Italian Literature, held in Gargnano del Garda. It contains contributions by Giovanni Biancardi, Arnaldo Bruni, Andrea Campana, Massimo Castellozzi, Gustavo Costa, Alfredo Cottignoli, Christian Del Vento, Sandro Gentili, Franco Longoni, Ilaria Mangiavacchi, Donatella Martinelli, Giuseppe Natale, Enzo Neppi, Matteo Palumbo, Elena Parrini Cantini, Chiara Piola Caselli, preceded by a Preface by the Editor: Claudia Berra, Paolo Borsa, Giulia Ravera

Locomotion and grasping impairment in preschoolers with autism spectrum disorder

Objective: To investigate expressiveness of motor impairment in autism spectrum disorder (ASD) and its correlation with developmental and clinical features of ASD. Method: Thirty-five male preschoolers with ASD completed the Peabody Developmental Motor Scales-2 (PDMS- 2; Folio and Fewell, 2000) and underwent a multidisciplinary assessment including medical examination, standardized assessment of cognitive abilities, administration of Autism_Diagnostic_Observation_Schedule (ADOS) and a parent interview about adaptive skills. Results: Results revealed a substantial impairment in locomotion and grasping skills. Both fine and gross motor skills were significantly correlated with non verbal IQ and adaptive behaviours (p<0.01) but not with chronological age or ADOS scores. Children with weaker motor skills have greater cognitive and adaptive behaviours deficits. Conclusions: Motor development in ASD can be detected at preschool age and locomotion and grasping skills are substantially the most impaired area. These findings support the need to assess motor skills in preschoolers with ASD in addition to other developmental skill areas. Along with the increasingly acknowledged importance of motor skills for subsequent social, cognitive, and communicative development our findings support the need to consider motor intervention as a key area in therapeutic program to improve outcome in preschoolers with ASD

Motor Skills as Moderators of Core Symptoms in Autism Spectrum Disorders: Preliminary Data From an Exploratory Analysis With Artificial Neural Networks

Motor disturbances have been widely observed in children with autism spectrum disorder (ASD), and motor problems are currently reported as associated features supporting the diagnosis of ASD in the current Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Studies on this issue reported disturbances in different motor domains, including both gross and fine motor areas as well as coordination, postural control, and standing balance. However, they failed to clearly state whether motor impairments are related to demographical and developmental features of ASD. Both the different methodological approaches assessing motor skills and the heterogeneity in clinical features of participants analyzed have been implicated as contributors to variance in findings. However, the non-linearity of the relationships between variables may account for the inability of the traditional analysis to grasp the core problem suggesting that the “single symptom approach analysis” should be overcome. Artificial neural networks (ANNs) are computational adaptive systems inspired by the functioning processes of the human brain particularly adapted to solving non-linear problems. This study aimed to apply the ANNs to reveal the entire spectrum of the relationship between motor skills and clinical variables. Thirty-two male children with ASD [mean age: 48.5 months (SD: 8.8); age range: 30–60 months] were recruited in a tertiary care university hospital. A multidisciplinary comprehensive diagnostic evaluation was associated with a standardized assessment battery for motor skills, the Peabody Developmental Motor Scale-Second Edition. Exploratory analyses were performed through the ANNs. The findings revealed that poor motor skills were a common clinical feature of preschoolers with ASD, relating both to the high level of repetitive behaviors and to the low level of expressive language. Moreover, unobvious trends among motor, cognitive and social skills have been detected. In conclusion, motor abnormalities in preschoolers with ASD were widespread, and the degree of impairment may inform clinicians about the severity of ASD core symptoms. Understanding motor disturbances in children with ASD may be relevant to clarify neurobiological basis and ultimately to guide the development of tailored treatments

Heterogeneous subpopulations of GABAAR-responding neurons coexist across neuronal network scales and developmental stages in health and disease

: Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in adults. Depolarizing GABA responses have been well characterized at neuronal-population average level during typical neurodevelopment and partially in brain disorders. However, no investigation has specifically assessed whether a mosaicism of cells with either depolarizing or hyperpolarizing/inhibitory GABAergic responses exists in animals in health/disease at diverse developmental stages, including adulthood. Here, we showed that such mosaicism is present in wild-type (WT) and down syndrome (DS) neuronal networks, as assessed at increasing scales of complexity (cultures, brain slices, behaving mice). Nevertheless, WT mice presented a much lower percentage of cells with depolarizing GABA than DS mice. Restoring the mosaicism of hyperpolarizing and depolarizing GABA-responding neurons to WT levels rescued anxiety behavior in DS mice. Moreover, we found heterogeneous GABAergic responses in developed control and trisomic human induced-pluripotent-stem-cells-derived neurons. Thus, a heterogeneous subpopulation of GABA-responding cells exists in physiological/pathological conditions in mouse and human neurons, possibly contributing to disease-associated behaviors

Fibroblast Heterogeneity and Immunosuppressive Environment in Human Breast Cancer

Comment inBreast cancer: Fibroblast subtypes alter the microenvironment. [Nat Rev Clin Oncol. 2018]International audienceCarcinoma-associated fibroblasts (CAF) are key players in the tumor microenvironment. Here, we characterize four CAF subsets in breast cancer with distinct properties and levels of activation. Two myofibroblastic subsets (CAF-S1, CAF-S4) accumulate differentially in triple-negative breast cancers (TNBC). CAF-S1 fibroblasts promote an immunosuppressive environment through a multi-step mechanism. By secreting CXCL12, CAF-S1 attracts CD4+CD25+ T lymphocytes and retains them by OX40L, PD-L2, and JAM2. Moreover, CAF-S1 increases T lymphocyte survival and promotes their differentiation into CD25HighFOXP3High, through B7H3, CD73, and DPP4. Finally, in contrast to CAF-S4, CAF-S1 enhances the regulatory T cell capacity to inhibit T effector proliferation. These data are consistent with FOXP3+ T lymphocyte accumulation in CAF-S1-enriched TNBC and show how a CAF subset contributes to immunosuppression

The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis

Background: The surgical safety checklist is widely used to improve the quality of perioperative care. However, clinicians continue to debate the clinical effectiveness of this tool. Methods: Prospective analysis of data from the International Surgical Outcomes Study (ISOS), an international observational study of elective in-patient surgery, accompanied by a systematic review and meta-analysis of published literature. The exposure was surgical safety checklist use. The primary outcome was in-hospital mortality and the secondary outcome was postoperative complications. In the ISOS cohort, a multivariable multi-level generalized linear model was used to test associations. To further contextualise these findings, we included the results from the ISOS cohort in a meta-analysis. Results are reported as odds ratios (OR) with 95% confidence intervals. Results: We included 44 814 patients from 497 hospitals in 27 countries in the ISOS analysis. There were 40 245 (89.8%) patients exposed to the checklist, whilst 7508 (16.8%) sustained ≥1 postoperative complications and 207 (0.5%) died before hospital discharge. Checklist exposure was associated with reduced mortality [odds ratio (OR) 0.49 (0.32-0.77); P&lt;0.01], but no difference in complication rates [OR 1.02 (0.88-1.19); P=0.75]. In a systematic review, we screened 3732 records and identified 11 eligible studies of 453 292 patients including the ISOS cohort. Checklist exposure was associated with both reduced postoperative mortality [OR 0.75 (0.62-0.92); P&lt;0.01; I2=87%] and reduced complication rates [OR 0.73 (0.61-0.88); P&lt;0.01; I2=89%). Conclusions: Patients exposed to a surgical safety checklist experience better postoperative outcomes, but this could simply reflect wider quality of care in hospitals where checklist use is routine