104 results on '"Ruta, L."'
Search Results
2. Analysis of back contact layers for flexible CdTe/CdS photovoltaic structures
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Znajdek, K., Sibiński, M., Kubiak, A., Ruta, Ł., Lisik, Z., and Janczak, D.
- Published
- 2019
- Full Text
- View/download PDF
3. A multicentric consortium study demonstrates that dimethylarginine dimethylaminohydrolase 2 is not a dimethylarginine dimethylaminohydrolase
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Ragavan, V. N., Nair, P. C., Jarzebska, N., Angom, R. S., Ruta, L., Bianconi, E., Grottelli, S., Tararova, N. D., Ryazanskiy, D., Lentz, S. R., Tommasi, S., Martens-Lobenhoffer, J., Suzuki-Yamamoto, T., Kimoto, M., Rubets, E., Chau, S., Chen, Y., Hu, X., Bernhardt, N., Spieth, P. M., Weiss, N., Bornstein, S. R., Mukhopadhyay, D., Bode-Boger, S. M., Maas, R., Wang, Y., Macchiarulo, A., Mangoni, A. A., Cellini, B., and Rodionov, R. N.
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- 2023
4. Autism and lack of D3 vitamin: A systematic review
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Pioggia, G., Tonacci, A., Tartarisco, G., Billeci, L., Muratori, F., Ruta, L., and Gangemi, S.
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- 2014
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5. Elevated fetal steroidogenic activity in autism
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Baron-Cohen, S, Auyeung, B, Nørgaard-Pedersen, B, Hougaard, D M, Abdallah, M W, Melgaard, L, Cohen, A S, Chakrabarti, B, Ruta, L, and Lombardo, M V
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- 2015
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6. Porous silicon used as support for protein microarray
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Simion, M., Ruta, L., Mihailescu, C., Kleps, I., Bragaru, A., Miu, M., Ignat, T., and Baciu, Ion
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- 2009
- Full Text
- View/download PDF
7. Sex-specific serum biomarker patterns in adults with Asperger's syndrome
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Schwarz, E, Guest, P C, Rahmoune, H, Wang, L, Levin, Y, Ingudomnukul, E, Ruta, L, Kent, L, Spain, M, Baron-Cohen, S, and Bahn, S
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- 2011
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8. Neuroimaging endophenotypes of social robotic applications in autism spectrum disorder
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Cerasa A, Ruta L, Marino F, Biamonti G, and Pioggia G.
- Subjects
neuroimaging ,neuroendophenotype ,social robot ,Autism spectrum disorder - Abstract
A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity characterizing this disorder might interfere with behavioral effects. Neuroimaging is set to overcome these limitations by capturing the level of heterogeneity. Here, we provide a preliminary evaluation of the neural basis of social robotics and how extracting neural hallmarks useful to design more effective behavioral applications. Despite the endophenotype-oriented neuroimaging research approach is in its relative infancy, this preliminary evidence encourages innovation to address its current limitations.
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- 2020
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9. Elevated fetal steroidogenic activity in autism
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Baron-Cohen, Simon, Auyeung, Bonnie, Nørgaard-Pedersen, B., Hougaard, D. M., Abdallah, M. W., Melgaard, L., Cohen, A. S., Chakrabarti, B., Ruta, L., Lombardo, Michael V., and Lombardo, Michael V. [0000-0001-6780-8619]
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Male ,medicine.medical_specialty ,Hydrocortisone ,Denmark ,Gestational Age ,Cohort Studies ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Fetus ,0302 clinical medicine ,Tandem Mass Spectrometry ,Internal medicine ,medicine ,Humans ,Asperger Syndrome ,Autistic Disorder ,Molecular Biology ,Testosterone ,030304 developmental biology ,Pervasive developmental disorder not otherwise specified ,Analysis of Variance ,Principal Component Analysis ,0303 health sciences ,Case-control study ,medicine.disease ,3. Good health ,Psychiatry and Mental health ,Endocrinology ,Asperger syndrome ,Case-Control Studies ,Autism ,Female ,Steroids ,Original Article ,Psychology ,030217 neurology & neurosurgery ,Chromatography, Liquid ,medicine.drug ,Hormone - Abstract
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism. © 2015 Macmillan Publishers Limited. 20 3 369 376 Cited By :73; Export Date: 17 July 2017
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- 2014
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10. Ab-initio investigation of the influence of chemical compounds on graphene layer properties in fabricated IR detector
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Ruta, L., additional, Wozny, J., additional, Szczecinska, N., additional, and Lisik, Z., additional
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- 2016
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11. Integration of electronic system with electro-thermally cooled IR detector: thermal analysis
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Raj, E, primary, Lisik, Z, additional, Ruta, L, additional, Guzowski, B, additional, Kalinowski, P, additional, and Orman, Z, additional
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- 2016
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12. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
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State, M., Leblond, C.S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., Anckarsäter, H., Nygren, G., Gillberg, I.C., Melke, J., Toro, R., Regnault, B., Fauchereau, F., Mercati, O., Lemière, N., Skuse, D., Poot, M., Holt, R., Monaco, A.P., Järvelä, I., Kantojärvi, K., Vanhala, R., Curran, S., Collier, D.A., Bolton, P., Chiocchetti, A., Klauck, S.M., Poustka, F., Freitag, C.M., Waltes, R., Kopp, M., Duketis, E., Bacchelli, E., Minopoli, F., Ruta, L., Battaglia, A., Mazzone, L., Maestrini, E., Sequeira, A.F., Oliveira, B., Vicente, A., Oliveira, G., Pinto, D., Scherer, S.W., Zelenika, D., Delepine, M., Lathrop, M., Bonneau, D., Guinchat, V., Devillard, F., Assouline, B., Mouren, M., Leboyer, M., Gillberg, C., Boeckers, T.M., and Bourgeron, T.
- Subjects
mental disorders - Abstract
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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- 2012
13. Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome
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Steeb, H. (Hannah), Ramsey, J.M. (Jordan), Guest, P.C. (Paul), Stocki, P. (Pawel), Cooper, J.D. (Jason), Rahmoune, H. (Hassan), Ingudomnukul, E. (Erin), Auyeung, B. (Bonnie), Ruta, L. (Liliana), Baron-Cohen, S. (Simon), Bahn, S. (Sabine), Steeb, H. (Hannah), Ramsey, J.M. (Jordan), Guest, P.C. (Paul), Stocki, P. (Pawel), Cooper, J.D. (Jason), Rahmoune, H. (Hassan), Ingudomnukul, E. (Erin), Auyeung, B. (Bonnie), Ruta, L. (Liliana), Baron-Cohen, S. (Simon), and Bahn, S. (Sabine)
- Abstract
Background: The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum. Methods. Here, we analysed sera from adults diagnosed with AS (males = 14, females = 16) and controls (males = 13, females = 16) not on medication at the time of sample collection, using a combination of multiplex immunoassay and shotgun label-free liquid chromatography mass spectrometry (LC-MS§ssup§E§esup§). The main objective was to identify sex-specific serum protein changes associated with AS. Results: Multiplex immunoassay profiling led to identification of 16 proteins that were significantly altered in AS individuals in a sex-specific manner. Three of these proteins were altered in females (ADIPO, IgA, APOA1), seven were changed in males (BMP6, CTGF, ICAM1, IL-12p70, IL-16, TF, TNF-alpha) and six were changed in both sexes but in opposite directions (CHGA, EPO, IL-3, TENA, PAP, SHBG). Shotgun LC-MS§ssup§E§esup§ profiling led to identification of 13 serum proteins which had significant sex-specific changes in the AS group and, of these, 12 were altered in females (APOC2, APOE, ARMC3, CLC4K, FETUB, GLCE, MRRP1, PTPA, RN149, TLE1, TRIPB, ZC3HE) and one protein was altered in males (RGPD4). The free androgen index in females with AS showed an increased ratio of 1.63 compared to controls. Conclusion: Taken together, the serum multiplex immunoassay and shotgun LC- MS§ssup§E§esup§ profiling results indicate that adult females with AS had alterations in proteins involved mostly in lipid transport and metabolism pathways, while adult males with AS showed changes predominantly in inflammation signalling. These results provide further evidence that the search for biomarkers or novel drug targets in AS may require stratification into male and female subgroups, and could lead to the development of nov
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- 2014
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- View/download PDF
14. Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndrome
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Steeb, H, Ramsey, JM, Guest, PC, Stocki, P, Cooper, JD, Rahmoune, H, Ingudomnukul, E, Auyeung, B, Ruta, L, Baron-Cohen, S, Bahn, Sabine, Steeb, H, Ramsey, JM, Guest, PC, Stocki, P, Cooper, JD, Rahmoune, H, Ingudomnukul, E, Auyeung, B, Ruta, L, Baron-Cohen, S, and Bahn, Sabine
- Abstract
Background: The higher prevalence of Asperger Syndrome (AS) and other autism spectrum conditions in males has been known for many years. However, recent multiplex immunoassay profiling studies have shown that males and females with AS have distinct proteomic changes in serum. Methods: Here, we analysed sera from adults diagnosed with AS (males = 14, females = 16) and controls (males = 13, females = 16) not on medication at the time of sample collection, using a combination of multiplex immunoassay and shotgun label-free liquid chromatography mass spectrometry (LC-MSE). The main objective was to identify sex-specific serum protein changes associated with AS. Results: Multiplex immunoassay profiling led to identification of 16 proteins that were significantly altered in AS individuals in a sex-specific manner. Three of these proteins were altered in females (ADIPO, IgA, APOA1), seven were changed in males (BMP6, CTGF, ICAM1, IL-12p70, IL-16, TF, TNF-alpha) and six were changed in both sexes but in opposite directions (CHGA, EPO, IL-3, TENA, PAP, SHBG). Shotgun LC-MSE profiling led to identification of 13 serum proteins which had significant sex-specific changes in the AS group and, of these, 12 were altered in females (APOC2, APOE, ARMC3, CLC4K, FETUB, GLCE, MRRP1, PTPA, RN149, TLE1, TRIPB, ZC3HE) and one protein was altered in males (RGPD4). The free androgen index in females with AS showed an increased ratio of 1.63 compared to controls. Conclusion: Taken together, the serum multiplex immunoassay and shotgun LC-MSE profiling results indicate that adult females with AS had alterations in proteins involved mostly in lipid transport and metabolism pathways, while adult males with AS showed changes predominantly in inflammation signalling. These results provide further evidence that the search for biomarkers or novel drug targets in AS may require stratification into male and female subgroups, and could lead to the development of novel targeted treatment approaches.
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- 2014
15. Brachidactyly-Mental Retardation Syndrome and autism: evolutionary course in 2 unrelated patients
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Mazzone, L, Mugno, D, Ruta, L, GENITORI DARRIGO, V, Perrotta, C. S., Mattina, Teresa, and Mazzone, D.
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- 2004
16. Modelling of MOCVD Reactor: New 3D Approach
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Raj, E, primary, Lisik, Z, additional, Niedzielski, P, additional, Ruta, L, additional, Turczynski, M, additional, Wang, X, additional, and Waag, A, additional
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- 2014
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17. Verification of Thermo-Fluidic CVD Reactor Model
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Lisik, Z, primary, Turczynski, M, additional, Ruta, L, additional, and Raj, E, additional
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- 2014
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18. La comunicazione della diagnosi psichiatrica nel cinema
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Santarosa, S, Garofalo, G, Ruta, L, Zuccaro, A, and Virzi', Antonio
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- 2001
19. Comunicare una diagnosi: la dimensione relazionale secondo un modello di medicina patient centred
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Ruta, L and Virzi', Antonio
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- 2001
20. Ambulatory blood pressure monitoring in Australia: 2011 consensus position statement.
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Schlaich M.P., Wilson A., Ruta L.-A., Brown M.A., Cowley D., Mangoni A.A., Stowasser M., Head G.A., McGrath B.P., Mihailidou A.S., Nelson M.R., Schlaich M.P., Wilson A., Ruta L.-A., Brown M.A., Cowley D., Mangoni A.A., Stowasser M., Head G.A., McGrath B.P., Mihailidou A.S., and Nelson M.R.
- Abstract
Objective: Although most national guidelines for the diagnosis and management of hypertension emphasize that the initiation and modification of blood pressure (BP)-lowering treatment should be related to absolute cardiovascular disease (CVD) risk, there is only limited information on how to incorporate ambulatory BP (ABP) monitoring into this framework. The objective of this initiative is to provide ABP equivalents for BP cut-points for treatment initiation and targets to be included into guidelines. Method(s): A critical analysis of the best available evidence from clinical trials and observational studies was undertaken to develop a new consensus statement for ABP monitoring. Result(s): ABP monitoring has an important place in defining abnormal patterns of BP, particularly white-coat hypertension (including in pregnancy), episodic hypertension, masked hypertension, labile BP and nocturnal or morning hypertension. This consensus statement provides a framework for appropriate inclusion of ABP equivalents for low, moderate and high CVD risk patients. The wider use of ABP monitoring, although justified, is limited by its availability and cost due to the lack of medical subsidy in Australia. However, cost-benefit analysis does suggest a cost-saving in reduced numbers of inappropriate antihypertensive treatments. Conclusion(s): Although clinic measurement of BP will continue to be useful for screening and management of suspected and true hypertension, ABP monitoring provides considerable added value toward accurate diagnosis and the provision of optimal care in uncomplicated hypertension, as well as for patients with moderate or severe CVD risk. © 2012 Wolters Kluwer Health Lippincott Williams & Wilkins.
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- 2012
21. Molecular Sex Differences in Human Serum
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Ramsey, J.M. (Jordan), Schwarz, E. (Emanuel), Guest, P.C. (Paul), Beveren, N.J.M. (Nico) van, Leweke, F.M. (Marcus), Rothermundt, M. (Matthias), Bogerts, B. (Bernhard), Steiner, J. (Johann), Ruta, L. (Liliana), Baron-Cohen, S. (Simon), Bahn, S. (Sabine), Ramsey, J.M. (Jordan), Schwarz, E. (Emanuel), Guest, P.C. (Paul), Beveren, N.J.M. (Nico) van, Leweke, F.M. (Marcus), Rothermundt, M. (Matthias), Bogerts, B. (Bernhard), Steiner, J. (Johann), Ruta, L. (Liliana), Baron-Cohen, S. (Simon), and Bahn, S. (Sabine)
- Abstract
Background: Sex is an important factor in the prevalence, incidence, progression, and response to treatment of many medical conditions, including autoimmune and cardiovascular diseases and psychiatric conditions. Identification of molecular differences between typical males and females can provide a valuable basis for exploring conditions differentially affected by sex. Methodology/Principal Findings: Using multiplexed immunoassays, we analyzed 174 serum molecules in 9 independent cohorts of typical individuals, comprising 196 males and 196 females. Sex differences in analyte levels were quantified using a meta-analysis approach and put into biological context using k-means to generate clusters of analytes with distinct biological functions. Natural sex differences were established in these analyte groups and these were applied to illustrate sexually dimorphic analyte expression in a cohort of 22 males and 22 females with Asperger syndrome. Reproducible sex differences were found in the levels of 77 analytes in serum of typical controls, and these comprised clusters of molecules enriched with distinct biological functions. Analytes involved in fatty acid oxidation/hormone regulation, immune cell growth and activation, and cell death were found at higher levels in females, and analytes involved in immune cell chemotaxis and other indistinct functions were higher in males. Comparison of these naturally occurring sex differences against a cohort of people with Asperger syndrome indicated that a cluster of analytes that had functions related to fatty acid oxidation/hormone regulation was associated with sex and the occurrenc
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- 2012
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22. Molecular Sex Differences in Human Serum
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Ramsey, JM, Schwarz, E, Guest, PC, Beveren, JM, Leweke, FM, Rothermundt, M, Bogerts, B, Steiner, J, Ruta, L, Baron-Cohen, S, Bahn, Sabine, Ramsey, JM, Schwarz, E, Guest, PC, Beveren, JM, Leweke, FM, Rothermundt, M, Bogerts, B, Steiner, J, Ruta, L, Baron-Cohen, S, and Bahn, Sabine
- Abstract
Background: Sex is an important factor in the prevalence, incidence, progression, and response to treatment of many medical conditions, including autoimmune and cardiovascular diseases and psychiatric conditions. Identification of molecular differences between typical males and females can provide a valuable basis for exploring conditions differentially affected by sex. Methodology/Principal Findings: Using multiplexed immunoassays, we analyzed 174 serum molecules in 9 independent cohorts of typical individuals, comprising 196 males and 196 females. Sex differences in analyte levels were quantified using a meta-analysis approach and put into biological context using k-means to generate clusters of analytes with distinct biological functions. Natural sex differences were established in these analyte groups and these were applied to illustrate sexually dimorphic Conclusions/Significance: Sex-specific molecular differences were detected in serum of typical controls and these were reproducible across independent cohorts. This study extends current knowledge of sex differences in biological functions involved in metabolism and immune function. Deviations from typical sex differences were found in a cluster of molecules in Asperger syndrome. These findings illustrate the importance of investigating the influence of sex on medical conditions.
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- 2012
23. Prevalence of diabetic retinopathy in Type 2 diabetes in developing and developed countries
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Ruta, L. M., primary, Magliano, D. J., additional, LeMesurier, R., additional, Taylor, H. R., additional, Zimmet, P. Z., additional, and Shaw, J. E., additional
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- 2013
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24. AMBULATORY BLOOD PRESSURE MONITORING IN AUSTRALIA: 2011 DRAFT POSITION STATEMENT
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Head, G., primary, McGrath, B., additional, Mihailidou, A., additional, Nelson, M., additional, Schlaich, M., additional, Stowasser, M., additional, Cowley, D., additional, Mangoni, A., additional, Harman, J., additional, Ruta, L., additional, Wilson, J., additional, and Boyden, A., additional
- Published
- 2011
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25. 2011 Addendum to the Guidelines for the Management of Acute Coronary Syndromes 2006
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Chew, D., primary, Aroney, C., additional, Aylward, P., additional, White, H., additional, Tideman, P., additional, Kelly, A., additional, Waddell, J., additional, Azadi, L., additional, Wilson, A., additional, and Ruta, L., additional
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- 2011
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26. 2011 Draft Position Statement on the Use of Ambulatory Blood Pressure Monitoring in Australia: National Heart Foundation (NHF) & High Blood Pressure Research Council (HBPRCA)
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Head, G., primary, Mangoni, A., additional, Nelson, M., additional, Cowley, D., additional, Stowasser, M., additional, McGrath, B., additional, Mihailidou, A., additional, Schlaich, M., additional, Wilson, J., additional, and Ruta, L., additional
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- 2011
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27. Sex-specific serum biomarker patterns in adults with Asperger's syndrome
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Schwarz, E, primary, Guest, P C, additional, Rahmoune, H, additional, Wang, L, additional, Levin, Y, additional, Ingudomnukul, E, additional, Ruta, L, additional, Kent, L, additional, Spain, M, additional, Baron-Cohen, S, additional, and Bahn, S, additional
- Published
- 2010
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28. SVMOS - a new solution for power MOSFET transistor
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Lisik, Z., primary, Podgorski, J., additional, Ruta, L., additional, and Szmidt, J., additional
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- 2008
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29. Laser scanning calibration for porous silicon substrate useful in microarray applications.
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Simion, M., Kleps, I., Ruta, L., Lazar, L., Bragaru, A., Miu, M., and Baciu, I.
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- 2009
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30. Biohybrid surface preparation for protein/DNA microarray applications.
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Simion, M., Ruta, L., Kleps, I., Mihailescu, C., Bragaru, A., Miu, M., and Ignat, T.
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- 2008
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31. Mixed-monolayers with alkane thiol on gold as substrates for microarray applications.
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Mihailescu, C.-M., Stan, D., Ruta, L., Ion, B., Moldovan, C., Schiopu, V., Simion, M., and Gavrila, R.
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- 2008
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32. Surface Functionalization for Protein Microarray.
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Simion, M., Ruta, L., Kleps, I., Mihailescu, T.C., Ignat, T., Stan, D., Craciunoiu, F., Miu, M., and Bragaru, A.
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- 2007
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33. Ab-initio investigation of the influence of chemical compounds on graphene layer properties in fabricated IR detector
- Author
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Jasiński, Piotr, Ruta, L., Wozny, J., Szczecinska, N., and Lisik, Z.
- Published
- 2016
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34. Obsessive-compulsive traits in children and adolescents with Asperger syndrome.
- Author
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Ruta L, Mugno D, D'Arrigo V, Vitiello B, and Mazzone L
- Abstract
The objective of this study is to examine the occurrence and characteristic features of obsessive-compulsive behaviours in children and adolescents with Asperger syndrome (AS), with respect to a matched obsessive compulsive disorder group (OCD) and a typically developing control group (CG). For this purpose, 60 subjects (20 OCD; 18 AS; 22 CG), aged 8-15 years, matched for age, gender and IQ were compared. AS and OCD patients were diagnosed according to the DSM-IV-TR criteria. The Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule were used to assist in the AS diagnosis; the WISC-R was administered to assess IQ. Obsessive and compulsive symptoms were evaluated by using the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS). None of the AS children received a formal diagnosis of OCD. The AS group presented significantly higher frequencies of Hoarding obsessions and Repeating, Ordering and Hoarding compulsions compared to CG. The OCD group, in turn, reported significantly higher frequencies of Contamination and Aggressive obsessions and Checking compulsions compared to both the AS group and CG. As expected, the OCD group displayed a higher severity of symptoms ( Moderate level of severity) than did the AS group ( Mild level of severity). Finally, in our sample, neither the OCD group nor the AS group demonstrated a completely full awareness of the intrusive, unreasonable and distressing nature of symptoms, and the level of insight did not differ between the OCD group and CG, although an absence of insight was observed in the AS group. Children with AS showed higher frequencies of obsessive and compulsive symptoms than did typically developing children, and these features seem to cluster around Hoarding behaviours. Additionally, different patterns of symptoms emerged between the OCD and AS groups. Finally, in our sample, the level of insight was poor in both the OCD and the AS children. Further research should be conducted to better understand the characteristics of repetitive thoughts and behaviours in autism spectrum disorders, and to clarify the underlying neurobiological basis of these symptoms. [ABSTRACT FROM AUTHOR]
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- 2010
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35. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
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Christian Proepper, Dominique Bonneau, Catalina Betancur, Sarah Curran, Astrid M. Vicente, Henrik Anckarsäter, Elena Bacchelli, Sabine M. Klauck, Eftichia Duketis, Guiomar Oliveira, Fabien Fauchereau, Richard Delorme, Irma Järvelä, I. Carina Gillberg, Marina Konyukh, Stephen W. Scherer, Pauline Chaste, Elena Maestrini, Guillaume Huguet, Dalila Pinto, David Skuse, Marie-Christine Mouren, Béatrice Regnault, Nathalie Lemière, Jonas Melke, Christopher Gillberg, Bárbara Oliveira, Maria Råstam, Thomas Bourgeron, Marnie Kopp, Marc Delepine, Oriane Mercati, Raija Vanhala, Luigi Mazzone, Marion Leboyer, Richard Holt, Agatino Battaglia, Fiorella Minopoli, Katri Kantojärvi, Diana Zelenika, Liliana Ruta, Roberto Toro, Ana Filipa Sequeira, Françoise Devillard, Brigitte Assouline, Martin Poot, Elodie Ey, Regina Waltes, Vincent Guinchat, Tobias M. Boeckers, Jutta Heinrich, Anthony P. Monaco, Gudrun Nygren, Fritz Poustka, Mark Lathrop, David A. Collier, Claire S. Leblond, Patrick Bolton, Christine M. Freitag, Andreas G. Chiocchetti, Betancur, Catalina, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universität Ulm - Ulm University [Ulm, Allemagne], Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Child and Adolescent Psychiatry, University of Gothenburg (GU), Forensic Psychiatry, Lund University [Lund], Department of Pharmacology, Génotypage des Eucaryotes (Plate-Forme), Institut Pasteur [Paris] (IP), Behavioural and Brain Sciences Unit, Institute of Child Health, University College of London [London] (UCL), University Medical Center [Utrecht], The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Academic Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King‘s College London, Social, Genetic and Developmental Psychiatry Centre (SGDP), Institute of psychiatry, Division of Molecular Genome Analysis, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe-Universität Frankfurt am Main, Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Institute of Biotechnology, Department of Psychiatry and Behavioral Sciences [Stanford], Stanford Medicine, Stanford University-Stanford University, Division of Child Neurology and Psychiatry, Department of Paediatrics, Università degli studi di Catania = University of Catania (Unict), Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), BioFIG, Center for Biodiversity, Functional and Integrative Genomics, Unidade de Neurodesenvolvimento e Autismo (UNDA), Hospital Pediatrico de Coimbra, Human Genetics Center, The University of Texas Health Science Center at Houston (UTHealth), The Centre for Applied Genomics, Toronto, The Hospital for sick children [Toronto] (SickKids)-University of Toronto-Department of Molecular Genetics-McLaughlin Centre, Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire Intégrée (BNVI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité Pédopsychiatrique et Neuropédiatrique de Diagnostic et d'Evaluation des Troubles Envahissants du Développement, Centre Alpin de DIagnostic Précoce de l'Autisme - CADIPA-Centre Hospitalier Alpes Isère, Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-Hôpital Couple-Enfant, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institute for Anatomy and Cell Biology, Department of Medical and Clinical Genetics, Leblond C.S., Heinrich J., Delorme R., Proepper C., Betancur C., Huguet G., Konyukh M., Chaste P| Ey E., Rastam M., Anckarsäter H., Nygren G., Gillberg IC., Melke J., Toro R., Regnault B., Fauchereau F., Mercati O., Lemière N., Skuse D., Poot M., Holt R., Monaco A.P., Järvelä I., Kantojärvi K., Vanhala R., Curran S., Collier D.A., Bolton P., Chiocchetti A., Klauck S.M., Poustka F., Freitag C.M., Waltes R., Kopp M., Duketis E., Bacchelli E., Minopoli F., Ruta L., Battaglia A., Mazzone L., Maestrini E., Sequeira A.F., Oliveira B., Vicente A., Oliveira G., Pinto D., Scherer S.W., Zelenika D., Delepine M., Lathrop M., Bonneau D., Guinchat V., Devillard F., Assouline B., Mouren M.C., Leboyer M., Gillberg C., Boeckers T.M., Bourgeron T., Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institute of Anatomy and Cell Biology, Ulm University, University of Lund, Institut Pasteur [Paris], University of Oxford [Oxford], University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Università degli studi di Catania [Catania], and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10
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Male ,Gene Dosage ,Receptors, Nicotinic ,MESH: Protein Isoforms ,HIDDEN-MARKOV MODEL ,0302 clinical medicine ,MESH: Child ,Protein Isoforms ,Tissue Distribution ,MESH: Nerve Tissue Proteins ,Child ,Neurons ,0303 health sciences ,MESH: Alternative Splicing ,PSYCHIATRIC-DISORDERS ,CHRNA7 ,MESH: Sequence Deletion ,3. Good health ,Autism spectrum disorder ,Child, Preschool ,Medicine ,Adaptor Proteins, Signal Transducing ,Adult ,Alternative Splicing ,Cell Line ,Child Development Disorders, Pervasive ,Female ,Gene Expression Regulation ,Humans ,Nerve Tissue Proteins ,RNA Splice Sites ,Sequence Deletion ,Synapses ,alpha7 Nicotinic Acetylcholine Receptor ,Child Development Disorders ,education ,COPY-NUMBER VARIATION ,Molecular Genetics ,03 medical and health sciences ,Genetics ,AUTISM ,MESH: Tissue Distribution ,Molecular Biology ,Biology ,SNP GENOTYPING DATA ,Ecology, Evolution, Behavior and Systematics ,Pervasive ,MESH: Adaptor Proteins, Signal Transducing ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,MESH: Humans ,RECURRENT MICRODELETIONS ,MESH: Child, Preschool ,Signal Transducing ,MESH: Adult ,SCAFFOLDING PROTEIN SHANK3 ,medicine.disease ,Human genetics ,MESH: Cell Line ,MESH: Female ,030217 neurology & neurosurgery ,Neuroscience ,Cancer Research ,MESH: Neurons ,MESH: RNA Splice Sites ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Bioinformatics ,Nicotinic ,MESH: Child Development Disorders, Pervasive ,MESH: Gene Dosage ,MESH: Synapses ,POSTSYNAPTIC DENSITY ,Receptors ,Copy-number variation ,Genetics (clinical) ,Psychiatry ,Adaptor Proteins ,MESH: Gene Expression Regulation ,Settore MED/39 - Neuropsichiatria Infantile ,SHANK2 ,Mental Health ,MESH: Receptors, Nicotinic ,Research Article ,lcsh:QH426-470 ,15Q13.3 MICRODELETIONS ,Genetic variation ,mental disorders ,medicine ,ddc:610 ,Preschool ,Gene ,030304 developmental biology ,MESH: Male ,lcsh:Genetics ,DE-NOVO MUTATIONS ,Perturbações do Desenvolvimento Infantil e Saúde Mental ,biology.protein ,Autism ,3111 Biomedicine ,MENTAL-RETARDATION - Abstract
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11–q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD., Author Summary Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While mutations in several genes have been identified in patients with ASD, little is known about their effects on neuronal function and their interaction with other genetic variations. Using a combination of genetic and functional approaches, we identified novel SHANK2 mutations including a de novo loss of one copy of the SHANK2 gene in a patient with autism and several mutations observed in patients that reduced neuronal cell contacts in vitro. Further genomic analysis of three patients carrying de novo SHANK2 deletions identified additional rare genomic imbalances previously associated with neuropsychiatric disorders. Taken together, these results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
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- 2012
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36. Molecular Dynamics-Ensemble Docking and Biophysical Studies for Structure-Based Identification of Non-Amino Acidic Ligands of DDAH-1.
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Bigiotti C, Bianconi E, Ruta L, Grottelli S, Coletti A, Dindo M, Carotti A, Cellini B, and Macchiarulo A
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- Humans, Biophysical Phenomena, Ligands, Molecular Docking Simulation, Molecular Dynamics Simulation, Protein Binding, Protein Conformation, Amidohydrolases antagonists & inhibitors, Amidohydrolases metabolism, Amidohydrolases chemistry
- Abstract
Dimethylarginine dimethylaminohydrolase-1 (DDAH-1) accounts for the catabolism of the endogenous inhibitors of nitric oxide (NO) synthases, namely, ADMA ( N
ω -dimethyl-l-arginine) and NMMA ( N -monomethyl-l-arginine). Inhibition of DDAH-1 may prove a therapeutic benefit in diseases associated with elevated nitric oxide (NO) levels by providing a tissue-specific increase of ADMA and NMMA. In this work, we have used molecular dynamics to generate a pool of DDAH-1 conformations in the apo and holo forms. Ensemble docking has been instrumental in screening an in-house fragment-based library of 824 compounds. Resulting virtual hits have been validated for their binding activity to recombinant human DDAH-1 using microscale thermophoresis (MST). As a key result, three non-amino acidic ligands of DDAH-1 (VIS212, VIS268, VIS726) are identified with higher binding efficiency index than ADMA. Amid these compounds, purpurogallin (VIS726) proves a potent ligand of DDAH-1, showing a mixed behavior of enzymatic inhibition in a biochemical assay. This finding widens the panel of known molecular targets of purpurogallin and provides clues into the molecular mechanisms of its cellular NO inhibition activity as well as its anti-inflammatory and neuroprotective effects.ω -dimethyl-l-arginine) and NMMA ( Nω -monomethyl-l-arginine). Inhibition of DDAH-1 may prove a therapeutic benefit in diseases associated with elevated nitric oxide (NO) levels by providing a tissue-specific increase of ADMA and NMMA. In this work, we have used molecular dynamics to generate a pool of DDAH-1 conformations in the apo and holo forms. Ensemble docking has been instrumental in screening an in-house fragment-based library of 824 compounds. Resulting virtual hits have been validated for their binding activity to recombinant human DDAH-1 using microscale thermophoresis (MST). As a key result, three non-amino acidic ligands of DDAH-1 (VIS212, VIS268, VIS726) are identified with higher binding efficiency index than ADMA. Amid these compounds, purpurogallin (VIS726) proves a potent ligand of DDAH-1, showing a mixed behavior of enzymatic inhibition in a biochemical assay. This finding widens the panel of known molecular targets of purpurogallin and provides clues into the molecular mechanisms of its cellular NO inhibition activity as well as its anti-inflammatory and neuroprotective effects.- Published
- 2024
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37. A multicentric consortium study demonstrates that dimethylarginine dimethylaminohydrolase 2 is not a dimethylarginine dimethylaminohydrolase.
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Ragavan VN, Nair PC, Jarzebska N, Angom RS, Ruta L, Bianconi E, Grottelli S, Tararova ND, Ryazanskiy D, Lentz SR, Tommasi S, Martens-Lobenhoffer J, Suzuki-Yamamoto T, Kimoto M, Rubets E, Chau S, Chen Y, Hu X, Bernhardt N, Spieth PM, Weiss N, Bornstein SR, Mukhopadhyay D, Bode-Böger SM, Maas R, Wang Y, Macchiarulo A, Mangoni AA, Cellini B, and Rodionov RN
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- Mice, Animals, Nitric Oxide metabolism, Amidohydrolases metabolism, Arginine metabolism
- Abstract
Dimethylarginine dimethylaminohydrolase 1 (DDAH1) protects against cardiovascular disease by metabolising the risk factor asymmetric dimethylarginine (ADMA). However, the question whether the second DDAH isoform, DDAH2, directly metabolises ADMA has remained unanswered. Consequently, it is still unclear if DDAH2 may be a potential target for ADMA-lowering therapies or if drug development efforts should focus on DDAH2's known physiological functions in mitochondrial fission, angiogenesis, vascular remodelling, insulin secretion, and immune responses. Here, an international consortium of research groups set out to address this question using in silico, in vitro, cell culture, and murine models. The findings uniformly demonstrate that DDAH2 is incapable of metabolising ADMA, thus resolving a 20-year controversy and providing a starting point for the investigation of alternative, ADMA-independent functions of DDAH2., (© 2023. The Author(s).)
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- 2023
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38. Turning a Tumor Microenvironment Pitfall into Opportunity: Discovery of Benzamidoxime as PD-L1 Ligand with pH-Dependent Potency.
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Bianconi E, Riccio A, Ruta L, Bigiotti C, Carotti A, Moretti S, Cerra B, Gioiello A, Ferlin S, Puxeddu E, and Macchiarulo A
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- Humans, Ligands, Programmed Cell Death 1 Receptor metabolism, Hydrogen-Ion Concentration, B7-H1 Antigen metabolism, Tumor Microenvironment
- Abstract
PD-1/PD-L1 protein complex is attracting a great deal of interest as a drug target for the design of immune therapies able to block its assembly. Although some biologic drugs have entered clinical use, their poor response rate in patients are demanding further efforts to design small molecule inhibitors of PD-1/PD-L1 complex with higher efficacy and optimal physicochemical properties. Dysregulation of pH in the tumor microenvironment is indeed one of the key mechanisms promoting drug resistance and lack of response in cancer therapy. Integrating computational and biophysical approaches, herein we report a screening campaign that has led to identifying VIS310 as a novel ligand of PD-L1, with physicochemical properties enabling a pH-dependent binding potency. Additional optimization efforts by analogue-based screening have been instrumental to disclosing VIS1201, which exhibits improved binding potency against PD-L1 and is able to inhibit PD-1/PD-L1 complex formation in a ligand binding displacement assay. While providing preliminary structure-activity relationships (SARs) of a novel class of PD-L1 ligands, our results lay the foundation for the discovery of immunoregulatory small molecules resilient to tumor microenvironmental conditions for escaping drug-resistance mechanisms.
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- 2023
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39. Video-Feedback Approach Improves Parental Compliance to Early Behavioral Interventions in Children with Autism Spectrum Disorders during the COVID-19 Pandemic: A Pilot Investigation.
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Aiello S, Leonardi E, Cerasa A, Servidio R, Famà FI, Carrozza C, Campisi A, Marino F, Scifo R, Baieli S, Corpina F, Tartarisco G, Vagni D, Pioggia G, and Ruta L
- Abstract
In the field of autism intervention, a large amount of evidence has demonstrated that parent-mediated interventions are effective in promoting a child's learning and parent caring skills. Furthermore, remote delivery treatments are feasible and can represent a promising opportunity to reach families at distance with positive results. Recently, the sudden outbreak of COVID-19 dramatically disrupted intervention services for autism and forced an immediate reorganization of the territory services toward tele-assisted intervention programs, according to professional and local resources. Our study aimed to conduct a retrospective pilot exploratory investigation on parental compliance, participation, and satisfaction in relation to three different telehealth intervention modalities, such as video feedback, live streaming, and psychoeducation, implemented in the context of a public community setting delivering early autism intervention during the COVID-19 emergency. We found that parents who attended video feedback expressed the highest rate of compliance and participation, while parental psychoeducation showed significantly lower compliance and the highest drop-out rate. Regardless of the tele-assistance modality, all the participants expressed satisfaction with the telehealth experience, finding it useful and effective. Potential benefits and advantages of different remote modalities with reference to parent involvement and effectiveness are important aspects to be taken into account and should be further investigated in future studies.
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- 2022
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40. Impact of Three Kinds of Early Interventions on Developmental Profile in Toddlers with Autism Spectrum Disorder.
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Cucinotta F, Vetri L, Ruta L, Turriziani L, Benedetto L, Ingrassia M, Maggio R, Germanò E, Alquino A, Siracusano R, Roccella M, and Gagliano A
- Abstract
Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children’s functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18−44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye−hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson’s correlation coefficient (r = −0.32, p = 0.002; r = −0.21, p = 0.044; r = −0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children’s developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.
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- 2022
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41. Quantifying preference for social stimuli in young children using two tasks on a mobile platform.
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Dubey I, Brett S, Ruta L, Bishain R, Chandran S, Bhavnani S, Belmonte MK, Estrin GL, Johnson M, Gliga T, and Chakrabarti B
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- Child, Child, Preschool, Humans, Reward, Task Performance and Analysis
- Abstract
Children typically prefer to attend to social stimuli (e.g. faces, smiles) over non-social stimuli (e.g. natural scene, household objects). This preference for social stimuli is believed to be an essential building block for later social skills and healthy social development. Preference for social stimuli are typically measured using either passive viewing or instrumental choice paradigms, but not both. Since these paradigms likely tap into different mechanisms, the current study addresses this gap by administering both of these paradigms on an overlapping sample. In this study, we use a preferential looking task and an instrumental choice task to measure preference for social stimuli in 3-9 year old typically developing children. Children spent longer looking at social stimuli in the preferential looking task but did not show a similar preference for social rewards on the instrumental choice task. Task performance in these two paradigms were not correlated. Social skills were found to be positively related to the preference for social rewards on the choice task. This study points to putatively different mechanisms underlying the preference for social stimuli, and highlights the importance of choice of paradigms in measuring this construct., Competing Interests: The authors declare that they have no conflict of interest.
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- 2022
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42. Critical Assessment of a Structure-Based Screening Campaign for IDO1 Inhibitors: Tips and Pitfalls.
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Mammoli A, Bianconi E, Ruta L, Riccio A, Bigiotti C, Souma M, Carotti A, Rossini S, Suvieri C, Pallotta MT, Grohmann U, Camaioni E, and Macchiarulo A
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- Ligands, Molecular Conformation, Structure-Activity Relationship, Enzyme Inhibitors chemistry, Enzyme Inhibitors pharmacology, Indoleamine-Pyrrole 2,3,-Dioxygenase metabolism
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Over the last two decades, indoleamine 2,3-dioxygenase 1 (IDO1) has attracted wide interest as a key player in immune regulation, fostering the design and development of small molecule inhibitors to restore immune response in tumor immunity. In this framework, biochemical, structural, and pharmacological studies have unveiled peculiar structural plasticity of IDO1, with different conformations and functional states that are coupled to fine regulation of its catalytic activity and non-enzymic functions. The large plasticity of IDO1 may affect its ligand recognition process, generating bias in structure-based drug design campaigns. In this work, we report a screening campaign of a fragment library of compounds, grounding on the use of three distinct conformations of IDO1 that recapitulate its structural plasticity to some extent. Results are instrumental to discuss tips and pitfalls that, due to the large plasticity of the enzyme, may influence the identification of novel and differentiated chemical scaffolds of IDO1 ligands in structure-based screening campaigns.
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- 2022
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43. Psychological Interventions for Children with Autism during the COVID-19 Pandemic through a Remote Behavioral Skills Training Program.
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Marino F, Chilà P, Failla C, Minutoli R, Vetrano N, Luraschi C, Carrozza C, Leonardi E, Busà M, Genovese S, Musotto R, Puglisi A, Arnao AA, Cardella G, Famà FI, Cusimano G, Vagni D, Martines P, Mendolia G, Tartarisco G, Cerasa A, Ruta L, and Pioggia G
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COVID-19 has impacted negatively on the mental health of children with autism spectrum disorder (ASD), as well as on their parents. Remote health services are a sustainable approach to behavior management interventions and to giving caregivers emotional support in several clinical domains. During the COVID-19 pandemic, we investigated the feasibility of a web-based behavioral skills training (BST) program for 16 parents and their children with ASD at home. The BST parent training package was tailored to each different specific behavioral disorder that characterizes children with ASD. After training, we found a significant reduction in the frequency of all the targeted behavioral disorders, as well as an improvement in psychological distress and the perception of the severity of ASD-related symptoms in parents. Our data confirm the efficacy of remote health care systems in the management of behavioral disorders of children with ASD, as well as of their parents during the COVID-19 pandemic.
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- 2022
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44. Autistic Traits and Empathy in Children With Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder and Co-occurring Attention Deficit Hyperactivity Disorder/Autism Spectrum Disorder.
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Aiello S, Vagni D, Cerasa A, Leonardi E, Carrozza C, Famà F, Campisi A, Marino F, Siracusano R, Alquino MA, Mainiero F, Germano E, Tartarisco G, Pioggia G, Gagliano A, and Ruta L
- Abstract
Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD) are two of the most represented neurodevelopmental conditions in childhood. The diagnostic shift introduced by the DSM-5, allowing a combined diagnosis of ADHD and ASD, poses different clinical challenges related to diagnostic overshadowing, accuracy of clinical judgment and potential delay in an ASD diagnosis in children presenting with ADHD. Here we tried to disentangle the clinical phenotype and specificity of the two co-occurring conditions in relation to autism traits and empathy, by comparing children with ASD with and without comorbid ADHD with children presenting ADHD only and children with typical development. The child versions of the Autism Quotient (C-AQ) and Empathy Quotient (C-EQ) were administered to a total sample of 198 male children between 6 and 14 years old with age appropriate language skills and normal intelligence. Univariate analysis demonstrated no significant differences in the C-AQ total and subscale scores as well as the C-EQ between children with ASD and children with ASD + ADHD, while children with ADHD alone presented an intermediate phenotype between ASD and TD. Furthermore, a receiver operating characteristic (ROC) analysis was applied to discriminate among the different phenotypes. We found that the C-AQ and C-EQ were accurate at distinguishing with satisfactory reliability between: (a) ASD vs. non- ASD (N-ASD) groups comprising both ADHD and TD children (Area Under the Curve AUC 88% for C-AQ and 81% for C-EQ); (b) ASD and TD (AUC 92% for C-AQ and 95% for C-EQ); (c) ASD and ADHD (AUC 80% for C-AQ and 68% for C-EQ). Our data confirm the reliability of the C-AQ and C-EQ as behavioral markers to differentiate ASD (regardless of comorbid ADHD) from an ADHD condition and TD. Interestingly, in our sample an ADHD condition does not increase the severity of the clinical phenotype in terms of autism traits distribution and empathy, suggesting that the psychological measures detected by the two quantitative instruments are independent of ADHD traits. This evidence will contribute to the translational efforts in developing better tailored treatments and preventive strategies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Aiello, Vagni, Cerasa, Leonardi, Carrozza, Famà, Campisi, Marino, Siracusano, Alquino, Mainiero, Germano, Tartarisco, Pioggia, Gagliano and Ruta.)
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- 2021
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45. The Route of Stress in Parents of Young Children with and without Autism: A Path-Analysis Study.
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Leonardi E, Cerasa A, Servidio R, Costabile A, Famà FI, Carrozza C, Spadaro L, Scifo R, Baieli S, Aiello S, Marino F, Tartarisco G, Vagni D, Pioggia G, and Ruta L
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- Anxiety epidemiology, Child, Child, Preschool, Humans, Parenting, Stress, Psychological, Autism Spectrum Disorder, Autistic Disorder epidemiology
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We provide a conceptual model on the complex interaction between stress, psychological predisposition, and personality traits, accounting for gender, in parents of children with and without autism. We performed a path analysis using a structural equation modeling approach in a sample of parents including 60 ASD and 53 TD couples. In parents of typically developing children (TD), depression level and age are the main direct predictors of stress through the mediating effect of anxiety. Otherwise, in the ASD parent group, the personality trait 'openness' directly predicts the defensive response and stress levels without the mediating effect of anxiety. Our data suggest a route of action in promoting new behavioral strategies to prevent parenting stress, making families run smoothly.
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- 2021
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46. Brief Report: Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder.
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Cerasa A, Ruta L, Marino F, Biamonti G, and Pioggia G
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- Autistic Disorder, Child, Creativity, Endophenotypes, Humans, Male, Research Report, Autism Spectrum Disorder genetics, Autism Spectrum Disorder therapy, Neuroimaging, Robotics methods
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A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity characterizing this disorder might interfere with behavioral effects. Neuroimaging is set to overcome these limitations by capturing the level of heterogeneity. Here, we provide a preliminary evaluation of the neural basis of social robotics and how extracting neural hallmarks useful to design more effective behavioral applications. Despite the endophenotype-oriented neuroimaging research approach is in its relative infancy, this preliminary evidence encourages innovation to address its current limitations.
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- 2021
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47. The Effect of Acceptance and Commitment Therapy for Improving Psychological Well-Being in Parents of Individuals with Autism Spectrum Disorders: A Randomized Controlled Trial.
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Marino F, Failla C, Chilà P, Minutoli R, Puglisi A, Arnao AA, Pignolo L, Presti G, Pergolizzi F, Moderato P, Tartarisco G, Ruta L, Vagni D, Cerasa A, and Pioggia G
- Abstract
Background: Acceptance and Commitment Therapy (ACT) has been demonstrated as effective in improving psychological well-being in several clinical domains, but there is no evidence regarding the parents of children with Autism Spectrum Disorder (ASD)., Methods: In this randomized controlled trial, we evaluated the efficacy of the ACT matrix behavioral protocol in comparison to the Parent Training (PT) program, measuring several primary and secondary outcomes prior to and following treatments. Twelve parents were randomly and equally assigned to two demographically matched groups wherein individuals underwent 24 weekly meetings of ACT protocol (experimental group) or conventional PT (control group)., Results: Parents enrolled in the ACT protocol demonstrated significant improvement in psychological flexibility, awareness states, personal values in everyday life, and parental stress, whereas reduced scores were elicited in parents' perceptions of their child's disruptive behaviors., Conclusions: The results of this randomized controlled trial, if repeated with a large number of subjects, could open the way to include ACT protocols in daily practice to support the development of new parenting skills.
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- 2021
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48. Mindfulness-Based Interventions for Physical and Psychological Wellbeing in Cardiovascular Diseases: A Systematic Review and Meta-Analysis.
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Marino F, Failla C, Carrozza C, Ciminata M, Chilà P, Minutoli R, Genovese S, Puglisi A, Arnao AA, Tartarisco G, Corpina F, Gangemi S, Ruta L, Cerasa A, Vagni D, and Pioggia G
- Abstract
Background: Recently, there has been an increased interest in the efficacy of mindfulness-based interventions (MBI) for people with cardiovascular diseases (CVD), although the exact beneficial effects remain unclear., Methods: This review aims to establish the role of MBI in the management of wellbeing for patients with CVD. Seventeen articles have been included in this systematic synthesis of the literature and eleven in the meta-analysis., Results: Considering physical (i.e., heart rate, blood pressure) and psychological outcomes (i.e., depression, anxiety, stress, styles of coping), the vast majority of studies confirmed that MBI has a positive influence on coping with psychological risk factors, also improving physiological fitness. Random-effects meta-analysis models suggested a moderate-to-large effect size in reducing anxiety, depression, stress, and systolic blood pressure., Conclusions: Although a high heterogeneity was observed in the methodological approaches, scientific literature confirmed that MBI can now be translated into a first-line intervention tool for improving physical and psychological wellbeing in CVD patients., Competing Interests: The authors declare no conflict of interest.
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- 2021
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49. Quantitative Checklist for Autism in Toddlers (Q-CHAT). A population screening study with follow-up: the case for multiple time-point screening for autism.
- Author
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Allison C, Matthews FE, Ruta L, Pasco G, Soufer R, Brayne C, Charman T, and Baron-Cohen S
- Subjects
- Checklist, Child, Child, Preschool, Humans, Infant, Mass Screening, Prospective Studies, Research Design, Autistic Disorder diagnosis
- Abstract
Objective: This is a prospective population screening study for autism in toddlers aged 18-30 months old using the Quantitative Checklist for Autism in Toddlers (Q-CHAT), with follow-up at age 4., Design: Observational study., Setting: Luton, Bedfordshire and Cambridgeshire in the UK., Participants: 13 070 toddlers registered on the Child Health Surveillance Database between March 2008 and April 2009, with follow-up at age 4; 3770 (29%) were screened for autism at 18-30 months using the Q-CHAT and the Childhood Autism Spectrum Test (CAST) at follow-up at age 4., Interventions: A stratified sample across the Q-CHAT score distribution was invited for diagnostic assessment (phase 1). The 4-year follow-up included the CAST and the Checklist for Referral (CFR). All with CAST ≥15, phase 1 diagnostic assessment or with developmental concerns on the CFR were invited for diagnostic assessment (phase 2). Standardised diagnostic assessment at both time-points was conducted to establish the test accuracy of the Q-CHAT., Main Outcome Measures: Consensus diagnostic outcome at phase 1 and phase 2., Results: At phase 1, 3770 Q-CHATs were returned (29% response) and 121 undertook diagnostic assessment, of whom 11 met the criteria for autism. All 11 screened positive on the Q-CHAT. The positive predictive value (PPV) at a cut-point of 39 was 17% (95% CI 8% to 31%). At phase 2, 2005 of 3472 CASTs and CFRs were returned (58% response). 159 underwent diagnostic assessment, including 82 assessed in phase 1. All children meeting the criteria for autism identified via the Q-CHAT at phase 1 also met the criteria at phase 2. The PPV was 28% (95% CI 15% to 46%) after phase 1 and phase 2., Conclusions: The Q-CHAT can be used at 18-30 months to identify autism and enable accelerated referral for diagnostic assessment. The low PPV suggests that for every true positive there would, however, be ~4-5 false positives. At follow-up, new cases were identified, illustrating the need for continued surveillance and rescreening at multiple time-points using developmentally sensitive instruments. Not all children who later receive a diagnosis of autism are detectable during the toddler period., Competing Interests: Competing interests: TC has received research grant support from the Medical Research Council (UK), the National Institute for Health Research, Horizon 2020 and the Innovative Medicines Initiative (European Commission), MQ, Autistica, FP7 (European Commission), the Charles Hawkins Fund and the Waterloo Foundation. He has served as a consultant to F Hoffmann-La Roche. He has received royalties from Sage Publications and Guilford Publications. All other authors report no biomedical financial interests or potential conflicts of interest., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.)
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- 2021
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50. Use of Machine Learning to Investigate the Quantitative Checklist for Autism in Toddlers (Q-CHAT) towards Early Autism Screening.
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Tartarisco G, Cicceri G, Di Pietro D, Leonardi E, Aiello S, Marino F, Chiarotti F, Gagliano A, Arduino GM, Apicella F, Muratori F, Bruneo D, Allison C, Cohen SB, Vagni D, Pioggia G, and Ruta L
- Abstract
In the past two decades, several screening instruments were developed to detect toddlers who may be autistic both in clinical and unselected samples. Among others, the Quantitative CHecklist for Autism in Toddlers (Q-CHAT) is a quantitative and normally distributed measure of autistic traits that demonstrates good psychometric properties in different settings and cultures. Recently, machine learning (ML) has been applied to behavioral science to improve the classification performance of autism screening and diagnostic tools, but mainly in children, adolescents, and adults. In this study, we used ML to investigate the accuracy and reliability of the Q-CHAT in discriminating young autistic children from those without. Five different ML algorithms (random forest (RF), naïve Bayes (NB), support vector machine (SVM), logistic regression (LR), and K-nearest neighbors (KNN)) were applied to investigate the complete set of Q-CHAT items. Our results showed that ML achieved an overall accuracy of 90%, and the SVM was the most effective, being able to classify autism with 95% accuracy. Furthermore, using the SVM-recursive feature elimination (RFE) approach, we selected a subset of 14 items ensuring 91% accuracy, while 83% accuracy was obtained from the 3 best discriminating items in common to ours and the previously reported Q-CHAT-10. This evidence confirms the high performance and cross-cultural validity of the Q-CHAT, and supports the application of ML to create shorter and faster versions of the instrument, maintaining high classification accuracy, to be used as a quick, easy, and high-performance tool in primary-care settings.
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- 2021
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