Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.

BACKGROUND AND OBJECTIVE: Only few studies investigated social cognition in Becker muscular dystrophy (BMD). However, brain dystrophin deficiency could be a neural substrate for cognitive, emotional, and neuropsychological features in BMD. METHODS: We compared interoceptive accuracy and interpersonal comfort distance in two brothers with BMD presenting with the same genetic deletion and a healthy control. When possible, we collected neuropsychological and psychopathological assessments. RESULTS: Our BMD patients were significantly different in interoceptive accuracy, with patient 1 being extremely accurate and patient 2 being significantly less accurate than his brother but more accurate than the control. Interestingly, they presented opposite patterns of interpersonal distance. Patient 1 was comfortable with very short interpersonal distance (≤50 cm from the confederate/object) vs the control and patient 2. By contrast, patient 2 preferred larger distance vs the control and patient 1. Patient 1 also presented difficulties in social and emotional skills on the psychopathological assessment. CONCLUSIONS: We are aware this is a small sample; nonetheless, this is also the first description of such aspects in BMD and the first report ever of such divergent behavioral pattern. As impaired social cognition affects the quality of life and social relationship, further studies are needed for a closer understanding of involved mechanisms.

Pain assessment in autism: updating the ethical and methodological challenges through a state-of-the-art review.

Sensory features of autism include hypo- or hyper-reactivity to pain; however, previous studies on pain in autism lead to conflicting results. Here, we present the state of the art and the methodological challenges concerning pain perception in autism, focusing on studies that used standardized protocol as Quantitative Sensory Testing (QST) to measure perception. Despite there are still scant evidences found with the use of QST, they have challenged the presumed hyposensitivity to pain in autisms, which emerged from parents' reports. Both, peripheral and central mechanisms, have been found involved in typical features of perception in autism. Nonetheless, evidences with controlled protocols are still scarce, and even scarcer are studies focused on children. Overall, complex ethical challenges have to be overcome in order to collect subjective and objective measures from autistic children. With heterogeneous neurodevelopmental features, or intellectual disability, novel or modified protocols are needed.

Chemobrain, Olfactory and Lifestyle Assessment in Onco-Geriatrics: Sex-Mediated Differences between Chemotherapy and Immunotherapy.

A possible link between chemotherapy and cognitive impairment has been identified. In the literature, this condition is usually called chemobrain and can mostly affect some memory domain but can lead also to other cognitive impairments. Olfaction, which is known to be linked with cognitive domain and the nociception system, can also be affected by chemotherapy. The aim of this study was to investigate the main cognitive and olfactory abilities and the functional and nutritional state of a cohort of chemotherapy and immunotherapy onco-geriatric patients and control geriatrics subjects. Cognitive, olfactory, geriatric and nutritional assessments were performed through the Mini Mental State Examination (MMSE), Sniffin' Sticks Screening 12, G8 test and a questionnaire on the adherence of the Mediterranean diet, respectively. Our findings show a gender effect on the MMSE. Overall results indicate more pronounced impairments both at the cognitive and frailty level regardless of the type of therapy. On the other hand, the Sniffin' Sticks performances highlight a significant decrease in olfactory perception ability of subjects following immunotherapy. Significant correlations between olfactory performance and MMSE and G8 scores were also found, as well as between MMSE and G8 measures.

Spatial Olfactory Memory and Spatial Olfactory Navigation, Assessed with a Variant of Corsi Test, Is Modulated by Gender and Sporty Activity.

Many studies have focused on navigation, spatial skills, and the olfactory system in comparative models, including those concerning the relationship between them and physical activity. Although the results are often in contrast with each other, it is assumed that physical activity can affect cognition in different ways-both indirectly and through a certain influence on some brain structures. In contrast, there is little research that focuses on the relationship between spatial abilities and olfactory abilities in humans. This research aimed to evaluate and compare the performance in working memory tasks of athletes and non-athletes who require good visual-spatial navigation, olfactory-spatial navigation, and olfactory-semantic skills. The study involved 236 participants (83 athletes) between the ages of 18 and 40. All subjects were matched by age or sex. The standard Corsi Block Tapping Test (CBTT) was administrated to investigate the visual-spatial memory. Olfactory-spatial navigation and olfactory-semantic skills were assessed with two modified versions of CBTT: Olfactory CBTT (OCBTT) and Semantic-Olfactory CBTT (SOCBTT) respectively. The results show differences between the CORSI conditions in direction of a poor performance for athletes. A gender effect in favor of men was also found, particularly in the classic version of the CBTT. Both groups performed better in the classic version of the CBTT than OCBTT and SOCBTT. The mean of SOCBTT results is markedly lower, perhaps due to the different information processing systems needed to perform this kind of task. It is possible to explain how sports practice can affect tasks that require spatial skills and olfactory perception differently, thus supporting new hypotheses and opening new scientific horizons.

Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate.

Objective: Standards of care and new genetic and molecular therapies have contributed to increasing life expectancy of patients with neuromuscular diseases (NMDs). This review presents the clinical evidence for an adequate transition from pediatric to adult care in patients with NMDs considering both physical and psychosocial aspects and attempts at identifying a general pattern of transition in the literature that can be used for all patients with NMDs. Method: A search was performed on PubMed, Embase and Scopus using generic terms that could be referred to the transition construct specifically related to NMDs. A narrative approach was used to summarise the available literature. Results: Our review shows that few or no studies explored the transition process from pediatric to adult care in neuromuscular diseases and tried to identify a general pattern of transition applicable to all NMDs. Conclusions: A transition process taking into consideration physical, psychological, social needs of patient and caregiver could produce positive outcomes. However, there is still no unanimous agreement in the literature on what it consists of and how to achieve an optimal and effective transition.