Unit of Psychology

Troina, Italy

Unit of Psychology

Troina, Italy
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Frostholm L.,Aarhus University Hospital | Ornbol E.,Aarhus University Hospital | Hansen H.S.,University of Aarhus | Olesen F.,University of Aarhus | And 2 more authors.
General Hospital Psychiatry | Year: 2010

Objective: We sought to examine (1) whether the patients' and the family physicians' (FPs') beliefs about the nature of a health problem predict health outcomes and (2) whether the FPs were aware of their patients' beliefs. Methods: A 2-year follow-up study of 38 FPs and 1131 patients presenting with well-defined physical disease (n=922) or medically unexplained symptoms (MUS) (n=209) according to the FPs was conducted. Before the consultation, patients categorized their health problem as being either physical or both physical and psychological. After the consultation, the FPs judged their patients' understanding of the health problem. Outcome measures were (1) patient satisfaction (seven-item Patient Satisfaction Consultation Questionnaire), (2) self-perceived mental and physical health (component summaries of the Medical Outcome Study's Short Form: SF-36) and (3) health care use extracted from patient registers. Main results: Patients with MUS according to the FPs and patients who believed that the nature of their health problem was both physical and psychological had higher health care use and worse self-rated health than patients in cases where both the FP and the patient had a physical understanding. Patients presenting MUS were more dissatisfied with the consultation than patients with well-defined physical disease. Overall, the FPs' perceptions of their patients' understanding were accurate in 82% of the consultations, but when the patients had a both physical and psychological understanding of their health problem, the FPs were right in only 26% of the consultations. Conclusions: Both FPs' diagnoses and patients' beliefs predict important health outcomes such as patient satisfaction, use of health care and self-rated health. © 2010 Elsevier Inc. All rights reserved.


Citta S.,Unit of Psychology | Buono S.,Unit of Psychology | Greco D.,Unit of Pediatrics and Medical Genetics | Barone C.,Unit of Pediatrics and Medical Genetics | And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition. We assessed these patients with standardized scales or checklists measuring the cognitive (WISC III or LIPS-R), behavioral (CBCL) and adaptive (VABS) performances. An accurate evaluation in our sample highlights different degrees of ID, variable behavioral disorders, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of 3q29 microdeletion syndrome. © 2013 Wiley Periodicals, Inc.


Grillo L.,Laboratory of Genetic Diagnosis | Reitano S.,Unit of Pediatrics and Medical Genetics | Belfiore G.,Unit of Psychology | Spalletta A.,Laboratory of Genetic Diagnosis | And 6 more authors.
European Journal of Medical Genetics | Year: 2010

We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of chromosome Xq22.1. Further analysis demonstrated that the deletion was inherited from her mother who showed mild MR, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder. Microsatellite segregation analysis revealed that the rearrangement arose de novo in the mother on the paternal X chromosome. The deleted Xq22.1 region contains part of the NXF gene cluster which is involved in mRNA nuclear export and metabolism. Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells. The dosage imbalance of NXF5 and NXF2 genes may explain the severe phenotype in our patient. © 2010 Elsevier Masson SAS. All rights reserved.


Buono S.,Unit of Psychology | Scannella F.,Unit of Psychology | Palmigiano M.B.,Unit of Psychology | Elia M.,Unit of Neurology | And 2 more authors.
Seizure | Year: 2012

We aimed to identify the presence of self-injurious behavior in a sample of 158 people with intellectual disability and epilepsy as compared with a control sample consisting of 195 people with intellectual disability without epilepsy. The Italian Scale for the Assessment of self-injurious behaviors was used to describe self-injurious behavior in both groups. The groups were matched for ID degree: mild/moderate (20 and 20 respectively), severe/profound (45 in both samples) and unknown (4 in both samples). Seventy-four percent of the first sample were diagnosed with symptomatic partial epilepsy. The prevalence of self-injurious behaviors was 44% in the group with intellectual disability and epilepsy and 46.5% in the group with intellectual disability without epilepsy (difference not significant). The areas most affected by self-injurious behaviors in both samples were the hands, the mouth and the head. The most frequent types of self-injurious behaviors were self-biting, self-hitting with hands and with objects. Self-injurious behavior is frequently observed in individuals with epilepsy and intellectual disability. Our study does not suggest that the presence of epilepsy is a risk factor for self-injurious behavior in this patient group. © 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.


Di Benedetto D.,Laboratory of Medical Genetics | Musumeci S.A.,Unit of Neurology | Avola E.,Unit of Pediatrics and Medical Genetics | Alberti A.,Unit of Pediatrics and Medical Genetics | And 12 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Typical Xq25 duplications are large and associated with heterogeneous phenotypes. Recently, small duplications involving this genomic region and encompassing the GRIA3 and STAG2 genes have been reported. These Xq25 microduplications are associated with a recognizable syndrome including intellectual disability and distinctive facial appearance. We report on Xq25 microduplications in two unrelated families identified by array comparative genomic hybridization. In both families, the genomic imbalances segregated with the disease in male individuals, while the phenotypes of the heterozygous females appeared to be modulated by their X-inactivation pattern. These rearrangements of about 600kb involved only three genes: THOC2, XIAP, and STAG2. Further characterization by FISH analyses showed tandem duplication in the Xq25 locus of these genes. These data refine the Xq25 candidate region, identifying a minimal duplicated region of about 270kb encompassing the XIAP and STAG2 genes. We discuss the function of the genes in the rearrangements and their involvement in the pathogenesis of this disorder. © 2014 Wiley Periodicals, Inc.


PubMed | Unit of Psychology
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2013

The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition. We assessed these patients with standardized scales or checklists measuring the cognitive (WISC III or LIPS-R), behavioral (CBCL) and adaptive (VABS) performances. An accurate evaluation in our sample highlights different degrees of ID, variable behavioral disorders, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of 3q29 microdeletion syndrome.


PubMed | Unit of Psychology
Type: Journal Article | Journal: Patient education and counseling | Year: 2010

To suggest a behavioural research agenda for patients with end-stage renal disease (ESRD) based on a concise review of seven stages of psychosocial research, a literature review, and current behavioural research in other chronic somatic diseases.Historical behavioural ESRD research was classified. The specialized register of the Cochrane Behavioral Medicine Field was also checked, and additional papers were selected by screening reference lists and related behavioural science journals, to identify promising areas for future research.The top-five topics identified via the literature search pertain to (1) psychological aspects and interventions, (2) adaptation, coping, and depression, (3) exercise, (4) counseling and education, and (5) compliance. Illness and treatment beliefs, sexuality, suicide, family support, and self-management interventions, were identified on the basis of research in other chronic illnesses as topics for future research. Regarding theory, the Common-Sense Model (CSM) was judged to offer useful theoretical perspectives; regarding methods, qualitative methods can be a valuable addition to quantitative research methods.Illness beliefs, treatment beliefs, and self-management behaviours are promising concepts in the assessment and clinical care of ESRD-patients. Cognitive-behavioural treatments appear to have potential and should be specified and elaborated for specific categories and problems of ESRD-patients.This research agenda is in line with moves towards patient-centred disease-management to improve the quality of medical care for ESRD-patients.


PubMed | Unit of Psychology
Type: Journal Article | Journal: Seizure | Year: 2012

We aimed to identify the presence of self-injurious behavior in a sample of 158 people with intellectual disability and epilepsy as compared with a control sample consisting of 195 people with intellectual disability without epilepsy. The Italian Scale for the Assessment of self-injurious behaviors was used to describe self-injurious behavior in both groups. The groups were matched for ID degree: mild/moderate (20 and 20 respectively), severe/profound (45 in both samples) and unknown (4 in both samples). Seventy-four percent of the first sample were diagnosed with symptomatic partial epilepsy. The prevalence of self-injurious behaviors was 44% in the group with intellectual disability and epilepsy and 46.5% in the group with intellectual disability without epilepsy (difference not significant). The areas most affected by self-injurious behaviors in both samples were the hands, the mouth and the head. The most frequent types of self-injurious behaviors were self-biting, self-hitting with hands and with objects. Self-injurious behavior is frequently observed in individuals with epilepsy and intellectual disability. Our study does not suggest that the presence of epilepsy is a risk factor for self-injurious behavior in this patient group.

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