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Bosisio Parini, Italy

Spatola C.A.M.,Vita-Salute San Raffaele University | Rende R.,Brown University | Battaglia M.,Vita-Salute San Raffaele University | Battaglia M.,San Raffaele Institute | Battaglia M.,Eugenio Medea Scientific Institute
European Child and Adolescent Psychiatry | Year: 2010

Inasmuch as the newly established DSM-oriented CBCL/6-18 scales are to be increasingly employed o assess clinical/high-risk populations, it becomes important to explore their aetiology both within the normal- and the extreme range of variation in general population samples and to compare the results obtained in different age groups. We investigated by the Quantitative Maximum Likelihood, the De Fries-Fulker, and the Ordinal Maximum Likelihood methods the genetic and environmental influences upon the five DSM-oriented CBCL/6-18 scales in 796 twins aged 8-17 years belonging to the general population-based Italian Twin Registry. When children were analysed together regardless of age, most best-fitting solutions yielded genetic and non-shared environmental factors as the sole influences for DSMoriented CBCL/6-18 behaviours, both for the normal and the extreme variations. When analyses were conducted separately for two age groups, shared environmental influences emerged consistently for Affective and Anxiety Problems in children aged 8-11. Oppositional-Defiant, Attention Deficit/Hyperactivity, and Conduct Problems appeared-with few exceptions-influenced only by genetic and non-shared environmental factors in both age groups, according to all three computational approaches. The De Fries-Fulker method appeared to be more sensitive in detecting shared environmental effects. Analysing the same set of data with different analytic approaches leads to better-balanced views on the aetiology of psychopathological behaviours in the developmental years. © Springer-Verlag 2010.

Tremolizzo L.,University of Milan Bicocca | Conti E.,University of Milan Bicocca | Bomba M.,University of Milan Bicocca | Uccellini O.,University of Milan Bicocca | And 8 more authors.
World Journal of Biological Psychiatry | Year: 2014

Objectives. The one-carbon metabolism, also known as methionine- homocysteine cycle, governs the dynamics of DNA methylation, epigenetically regulating gene expression, and has been reported altered in anorexia nervosa (AN) adult patients. The aim of this study consisted in assessing whole-blood DNA methylation in adolescent AN patients, assessing its significance in relationship to clinical and hormonal variables. Methods. Whole-blood global DNA methylation was measured as incorporation of [3H]dCTP following HpaII cut in 32 adolescent females affected by restrictive type AN and compared to 13 healthy controls. Homocysteine, vitamin B12 and folate plasma levels were assessed as well as fasting plasma levels of leptin and steroid hormones. Clinical variables, including severity and associate states and traits, were assessed by means of the EDI-3, CDI and STAI-Y scales. Results. We confirm that whole-blood global DNA methylation is modestly albeit significantly reduced in AN adolescents with respect to controls, correlating with plasma leptin and steroid hormone levels. Conversely, clinical traits did not correlate with the outcome variable. Conclusions. A better definition of the epigenetic dysregulation underlying AN pathology or vulnerability might lead to develop useful markers for diagnosis, prognostic classification and tailored therapeutic interventions in these vulnerable patients since the earliest phases of their disease. © 2014 Informa Healthcare.

Tavano A.,Eugenio Medea Scientific Institute | Borgatti R.,Eugenio Medea Scientific Institute
Cortex | Year: 2010

We compared the neurobehavioral profiles of children with Joubert syndrome (JS participants), a rare autosomal recessive condition characterized on magnetic resonance imaging (MRI) by hypoplasia of the cerebellar vermis and midbrain-hindbrain malformations, and children with malformations confined to the cerebellar vermis and one or both hemispheres (Cerebellar malformations - CM participants). We aimed at investigating the influence of anatomo-clinical similarities (vermian malformation) and differences (intact cerebellar hemispheres vs sparing of the pons, respectively) with respect to cognitive, linguistic and emotional development, assuming as a reference framework the Cerebellar Cognitive Affective Syndrome (CCAS). Results show that severe to moderate mental retardation is infrequent in JS children, while it is present in more than half the sample of CM children. Affect development was generally preserved in JS, in high-functioning CM individuals and also in some of the CM children with moderate mental retardation, which raised questions as to the role of a cerebellar vermis lesion in determining affect disorders. Further, cognitive and linguistic profiles on both intellectual and neuropsychological evaluations provided evidence for distinct patterns of peaks and valleys in the two groups, with JS children being significantly more impaired in language and verbal working memory and CM individuals showing a significant impairment of executive functions and emotional development. The overall evidence provides support for an important role of cerebellar structures per se in shaping emotional, cognitive and linguistic development, when vermian lesions are associated to cerebellar hemispheric lesions. Cerebellar vermis and brainstem lesions instead appear to have a major impact on motor-related skills, including oro-motor abilities and verbal working memory. © 2009 Elsevier Srl.

Debattisti V.,Venetian Institute of Molecular Medicine | Pendin D.,Eugenio Medea Scientific Institute | Ziviani E.,University of Geneva | Daga A.,Eugenio Medea Scientific Institute | And 2 more authors.
Journal of Cell Biology | Year: 2014

Ablation of the mitochondrial fusion and endoplasmic reticulum (ER)-tethering protein Mfn2 causes ER stress, but whether this is just an epiphenomenon of mitochondrial dysfunction or a contributor to the phenotypes in mitofusin (Mfn)-depleted Drosophila melanogaster is unclear. In this paper, we show that reduction of ER dysfunction ameliorates the functional and developmental defects of flies lacking the single Mfn mitochondrial assembly regulatory factor (Marf). Ubiquitous or neuron- and muscle-specific Marf ablation was lethal, altering mitochondrial and ER morphology and triggering ER stress that was conversely absent in flies lacking the fusion protein optic atrophy 1. Expression of Mfn2 and ER stress reduction in flies lacking Marf corrected ER shape, attenuating the developmental and motor defects. Thus, ER stress is a targetable pathogenetic component of the phenotypes caused by Drosophila Mfn ablation. © 2014 Debattisti et al.

Battaglia M.,Vita-Salute San Raffaele University | Zanoni A.,Vita-Salute San Raffaele University | Taddei M.,Vita-Salute San Raffaele University | Giorda R.,Eugenio Medea Scientific Institute | And 6 more authors.
Depression and Anxiety | Year: 2012

Background Cross-sectional studies report biased reactivity to facial expressions among shy children, anxious adolescents, and adults with social anxiety disorder (SAD). It remains unknown whether cerebral reactivity to facial expressions can predict longitudinally the development of SAD in adolescence and characterize the degree of social anxiety among the general population of adolescents. Methods In a longitudinal study of 21 general population volunteers characterized for behavioral and genetic variables, N400 event-related potentials, and 3-Tesla fMRI activations in response to happy/neutral/angry expressions were acquired at age 8-9 and 14-15, respectively. Results By stepwise regression, N400 amplitudes acquired at age 8-9 predicted the number of DSM-IV SAD symptoms at age 14-15, with the sole, significant (P =.018) contribution of the "anger" condition. Factorial ANOVA revealed increased (Voxel-Level P (FWE) range:.02-.0001) bilateral fMRI activations of several brain areas, including the amygdala, in response to facial expressions compared to a fixation cross. The number of symptoms of DSM-IV SAD was positively correlated with left amygdala response to angry (P (FWE) =.036) and neutral (P (FWE) =.025) facial expressions. Factorial ANOVA revealed that the 5-HTTLPR -S allele was associated with heightened left amygdala response to anger (P (FWE) =.05). Conclusion Cerebral reactivity to facial expressions, anger especially, measured at different developmental stages by different techniques is associated with adolescence SAD. The 5-HTTLPR genotype affects the neural processing of interpersonal affective stimuli during development. © 2011 Wiley-Liss, Inc.

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