The loss of Functional Living Skills (FLS) is an essential feature of Major Neurocognitive Disorders (M-NCD); Virtual Reality Training (VRT) offers many possibilities for improving FLS in people with M-NCD. The aim of our study was to verify the effectiveness of a non-immersive VRT on FLS for patients with M-NCD. VRT was carried out for 10 to 20 sessions, by means of four 3D apps de-veloped in our Institute and installed on a large touch screen. The experimental group (EG) and the control group (CG) included 24 and 18 patients with M-NCD, respectively. They were administered the in vivo test (in specific hospital places reproducing the natural environments) at T1 (pre-training) and T3 (post-training); at T2, only EG was administered VRT. Statistically significant differences between EG and CG in all the in vivo tests were found in the number of correct re-sponses; during VRT, the number of correct responses increased, while the execution times and the number of clues decreased. The improvement in the in vivo tests appeared to be related to the specific VRT applied. The satisfaction of participants with the VRT was moderate to high.

The loss of Functional Living Skills (FLS) is an essential feature of Major Neurocognitive Disorders (M-NCD); Virtual Reality Training (VRT) offers many possibilities for improving FLS in people with M-NCD. The aim of our study was to verify the effectiveness of a non-immersive VRT on FLS for patients with M-NCD. VRT was carried out for 10 to 20 sessions, by means of four 3D apps de-veloped in our Institute and installed on a large touch screen. The experimental group (EG) and the control group (CG) included 24 and 18 patients with M-NCD, respectively. They were administered the in vivo test (in specific hospital places reproducing the natural environments) at T1 (pre-training) and T3 (post-training); at T2, only EG was administered VRT. Statistically significant differences between EG and CG in all the in vivo tests were found in the number of correct re-sponses; during VRT, the number of correct responses increased, while the execution times and the number of clues decreased. The improvement in the in vivo tests appeared to be related to the specific VRT applied. The satisfaction of participants with the VRT was moderate to high.

Purpose: Longitudinal studies of the evolution of Self-Injurious Behaviors (SIBs) in people with Intellectual Disability (ID) and epilepsy are not common. This study aimed to analyze the evolution (in terms of remission and persistence) and changes in the type, localization, frequency, and intensity of SIBs. Methods: SIBs were assessed in a sample of 52 people with ID and epilepsy, and re-evaluated after a seven-year interval, using the “Scale for the Assessment of Self-Injurious Behaviors”. The scale was administered to caregivers (parents or health professionals) through a semi-structured interview conducted by a specifically trained psychologist. Results: The most frequent types of SIBs identified were: self-biting, self-hitting with objects, self-hitting with hand, object-finger in cavities. The main localizations of SIBs were: hands, mouth, head and cheeks. SIBs were found to be maintained after seven years, for type, localization, frequency, and intensity, in 90.4% of the sample. SIB types were stable over time, as were the affected areas. Global SIB frequency and intensity scores were found to be unchanged. Finally, a positive correlation was found between the frequency of SIBs and levels of intellectual disability. SIBs (frequency and intensity) and seizure frequency showed no correlation. Conclusion: Given the negative impact of SIBs on the adaptation and quality of life of people with ID and epilepsy, we believe that further studies on biological, psychological and environmental aspects are needed in order to identify any potential factors that might explain the persistence of SIBs and to find effective interventions to reduce them.

Purpose: Longitudinal studies of the evolution of Self-Injurious Behaviors (SIBs) in people with Intellectual Disability (ID) and epilepsy are not common. This study aimed to analyze the evolution (in terms of remission and persistence) and changes in the type, localization, frequency, and intensity of SIBs. Methods: SIBs were assessed in a sample of 52 people with ID and epilepsy, and re-evaluated after a seven-year interval, using the “Scale for the Assessment of Self-Injurious Behaviors”. The scale was administered to caregivers (parents or health professionals) through a semi-structured interview conducted by a specifically trained psychologist. Results: The most frequent types of SIBs identified were: self-biting, self-hitting with objects, self-hitting with hand, object-finger in cavities. The main localizations of SIBs were: hands, mouth, head and cheeks. SIBs were found to be maintained after seven years, for type, localization, frequency, and intensity, in 90.4% of the sample. SIB types were stable over time, as were the affected areas. Global SIB frequency and intensity scores were found to be unchanged. Finally, a positive correlation was found between the frequency of SIBs and levels of intellectual disability. SIBs (frequency and intensity) and seizure frequency showed no correlation. Conclusion: Given the negative impact of SIBs on the adaptation and quality of life of people with ID and epilepsy, we believe that further studies on biological, psychological and environmental aspects are needed in order to identify any potential factors that might explain the persistence of SIBs and to find effective interventions to reduce them.

Purpose: The advancements in the next-generation sequencing (NGS) techniques have allowed for rapid, efficient, and cost-time-effective genetic variant detection. However, in both clinical practice and research setting, sequencing is still often limited to the use of gene panels clinically targeted on the genes underlying the disease of interest. Methods: We performed a neurogenetic study through an ad hoc NGS-based custom sequencing gene panel in order to screen 16 genes in 8 patients with different types of degenerative cognitive disorders (Alzheimer's disease, mild cognitive impairment, frontotemporal dementia, and dementia associated with Parkinson's disease). The study protocol was based on previous evidence showing a high sensitivity and specificity of the technique even when the panel is limited to some hotspot exons. Results: We found variants of the TREM2 and APP genes in three patients; these have been previously identified as pathogenic or likely pathogenic and, therefore, considered "disease causing." In the remaining subjects, the pathogenicity was evaluated according to the guidelines of the American College of Medical Genetics (ACMG). In one patient, the p.R205W variant in the CHMP2B gene was found to be likely pathogenic of the disease. A variant in the CSF1R and SERPINI1 genes found in two patients was classified as benign, whereas the other two (in the GRN and APP genes) were classified as likely pathogenic according to the ACMG. Conclusions: Notwithstanding the preliminary value of this study, some rare genetic variants with a probable disease association were detected. Although future application of NGS-based sensors and further replication of these experimental data are needed, this approach seems to offer promising translational perspectives in the diagnosis and management of a wide range of neurodegenerative disorders.

Purpose: The advancements in the next-generation sequencing (NGS) techniques have allowed for rapid, efficient, and cost-time-effective genetic variant detection. However, in both clinical practice and research setting, sequencing is still often limited to the use of gene panels clinically targeted on the genes underlying the disease of interest. Methods: We performed a neurogenetic study through an ad hoc NGS-based custom sequencing gene panel in order to screen 16 genes in 8 patients with different types of degenerative cognitive disorders (Alzheimer's disease, mild cognitive impairment, frontotemporal dementia, and dementia associated with Parkinson's disease). The study protocol was based on previous evidence showing a high sensitivity and specificity of the technique even when the panel is limited to some hotspot exons. Results: We found variants of the TREM2 and APP genes in three patients; these have been previously identified as pathogenic or likely pathogenic and, therefore, considered "disease causing." In the remaining subjects, the pathogenicity was evaluated according to the guidelines of the American College of Medical Genetics (ACMG). In one patient, the p.R205W variant in the CHMP2B gene was found to be likely pathogenic of the disease. A variant in the CSF1R and SERPINI1 genes found in two patients was classified as benign, whereas the other two (in the GRN and APP genes) were classified as likely pathogenic according to the ACMG. Conclusions: Notwithstanding the preliminary value of this study, some rare genetic variants with a probable disease association were detected. Although future application of NGS-based sensors and further replication of these experimental data are needed, this approach seems to offer promising translational perspectives in the diagnosis and management of a wide range of neurodegenerative disorders.

Trisomy 21, also known as Down Syndrome (DS), is the most common chromosome abnormality and causes intellectual disability. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5), whose differential expression has recently been reported in patients with Klinefelter syndrome, has been addressed to play a role in the development of inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, all being common features in patients with DS. Therefore, the aim of this study was to assess the lncRNA GAS5 expression profile in DS patients and in controls. lncRNA GAS5 levels were evaluated by qRT-PCR assay in 23 patients with DS and 23 age-matched controls. A significant lncRNA GAS5 down-regulation was observed in patients with DS by RT-PCR analysis, The RNA sequencing experiments confirmed the qRT-PCR data. LncRNA GAS5 down-expression may play a role in the development of some typical features of the patients with DS and, particularly, in inflammatory and autoimmune diseases.

Trisomy 21, also known as Down Syndrome (DS), is the most common chromosome abnormality and causes intellectual disability. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5), whose differential expression has recently been reported in patients with Klinefelter syndrome, has been addressed to play a role in the development of inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, all being common features in patients with DS. Therefore, the aim of this study was to assess the lncRNA GAS5 expression profile in DS patients and in controls. lncRNA GAS5 levels were evaluated by qRT-PCR assay in 23 patients with DS and 23 age-matched controls. A significant lncRNA GAS5 down-regulation was observed in patients with DS by RT-PCR analysis, The RNA sequencing experiments confirmed the qRT-PCR data. LncRNA GAS5 down-expression may play a role in the development of some typical features of the patients with DS and, particularly, in inflammatory and autoimmune diseases.

Down syndrome (DS) is characterized by trisomy of chromosome 21 and peculiar phenotype. Humanin (HN) is a mitochondrial short 24-residue polypeptide whit anti-apoptotic and neuroprotective effects. In this study we evaluated HN protein expression and HN mRNA levels in cultured fibroblasts from DS patients and normal controls. Our results obtained by immunocytochemistry, western-blot and qRT-PCR analysis show a significant HN up-regulation in DS patients. These results confirm previous studies and suggest a role for HN may in the DS phenotype.

Down syndrome (DS) is characterized by trisomy of chromosome 21 and peculiar phenotype. Humanin (HN) is a mitochondrial short 24-residue polypeptide whit anti-apoptotic and neuroprotective effects. In this study we evaluated HN protein expression and HN mRNA levels in cultured fibroblasts from DS patients and normal controls. Our results obtained by immunocytochemistry, western-blot and qRT-PCR analysis show a significant HN up-regulation in DS patients. These results confirm previous studies and suggest a role for HN may in the DS phenotype.