Publications by authors named "Sandro Elisei"

35 Publications

Learning and Participation of People with Multiple Disabilities through Rite and Rhythm: Description of the Catechetical and Liturgical Experience of the Serafico Institute of Assisi.

Psychiatr Danub 2021 Dec;33(Suppl 11):118-120

Serafico Institute of Assisi, Viale Guglielmo Marconi, 6, 06081, Assisi, Perugia, Italy.

Through the description of the catechetical and liturgical experience of persons with multiple disabilities at the Serafico Institute of Assisi, we intend to initiate a discussion on the specific value that Rite and Rhythm have for learning and social participation of persons with severe physical, Psychic and sensory disabilities, from an integral educational and rehabilitative prospective. In summary, our attempt is to focus on elements such as the enhancement of non-verbal language within the Eucharistic liturgy, the ritual (in its characteristic of repetition) as an opportunity for learning, rhythm as an opportunity for spatial-temporal and social-relational movement.
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December 2021

Improving Health Care Accessibility for People with Complex Disabilities.

Psychiatr Danub 2021 Dec;33(Suppl 11):96-99

Istituto Serafico di Assisi, Viale Guglielmo Marconi, 6, 06081 Assisi, Perugia, Italy,

For many people with disabilities in health care even the simplest actions such as performing an examination or a test can be extremely difficult, just as a hospitalization or an access to the emergency room can be complex experiences. The issue of access to health services is felt to be particularly critical and unresolved by users, families and operators, who still report significant difficulties. The solutions to the problems of accessibility to care cannot be sought only at the clinical and professional level, but must rely on organizational and managerial innovations. The Seraphic Institute has promoted a project to ensure a better response to the health needs of people with complex disabilities to adapt the health care offer to the needs of people with disabilities, activating a proximity service aimed at reducing the inconvenience and costs related to the fragmentation of services and to improve and extend access to care of people with complex disabilities through the activation of a regional reference pole and a network of specialized multicenter and multidisciplinary assistance (Hub & Spoke model).
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December 2021

The D.A.M.A. Project at Terni Hospital, Italy.

Psychiatr Danub 2021 Dec;33(Suppl 11):91-95

Clinical Neurophysiology Division, Neuroscience Department, St. Maria Hospital, Terni, Italy,

Experience shows how difficult it is for a person with disabilities to cope with the reality of a hospital, especially if he or she has an intellectual disability. The difficulty in carrying out even simple diagnostic and therapeutic manoeuvres, the complexity of the pathologies, the difficulty in relating to the patient all make it a real risk that many medical problems of patients with disabilities are overlooked or denied altogether. The person with a disability has the right to all care, not only that related to his or her particular pathology, but also that required for other specialist or general pathologies. The UN Convention clearly states the rights of persons with disabilities. The Italian Republic has implemented the UN's declaration with Law 18/2009. The rights enshrined in Article 25 of the UN Convention are also concretely applied in the European Charter of Patients' Rights. The right of people with disabilities to be treated on an equal and non-discriminatory basis is also recalled by His Holiness Pope Francis in his latest encyclical. The DAMA (Disabled Advanced Medical Assistance) Hospital project was created to guarantee the right to health and care of people with disabilities, always, by remodelling its diagnostic and care procedures. The CAD/DAMA Service of the Terni Hospital since 2018 has adopted the DAMA project and also since 2018 has been collaborating with the Seraficio Institute of Assisi. The aim of the CAD/DAMA Service is also to promote and implement research in this area of care and training for healthcare professionals on disability and related issues.
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December 2021

Music Training as a Potential Neuroprotective Agent.

Psychiatr Danub 2021 Dec;33(Suppl 11):44-48

Department of Medicine, University of Perugia, Perugia, Italy,

A substantial amount of evidence suggest that music training is a powerful means of plastic reorganization of brain structures. Musical training is accompanied by plastic rearrangement of the central nervous system and numerous studies converge in disclosing that the brain differs significantly between musicians and non-musicians. Music-dependent brain changes concern both the grey and the white matter so that musicians possess a neuronal network shaped by type and degree of individual expertise as well as a different connectome than non-musicians. It is reasonable to assume that these plastic changes can provide a more efficient configuration of the neural network and justify an impact on cognition and behaviour in all ages of life. Furthermore, a number of studies suggest the effectiveness of "neurological music therapy" in clinical practice. Based on available literature, music should be considered one of the main activity that can preserve the brain efficiency and can be proposed as a primary non pharmachological agent in promoting a neuroprotective lifestyle. Understanding the variables of musical training that can positively influence brain plasticity might be one of the most exciting and promising areas of future research.
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December 2021

Intellectual Disability and Psychiatric Disorders as Exclusion Criteria in Randomized Controlled Trials (RCT).

Psychiatr Danub 2021 Dec;33(Suppl 11):36-39

Serafico Institute, Viale Guglielmo Marconi, 6, 06081 Assisi, Perugia, Italy,

People with intellectual disability or psychiatric disorders are commonly excluded from Randomized Controlled Trials (RCTs) because of explicit exclusion to the trials or because of inaccessible research protocols. We analyzed the exclusion rate of persons with cognitive impairment, psychiatric disorders and inability to give informed consent in interventional RCTs about the first 10 causes of global DALYs (disability- adjusted life-years) according to the Global Burden of Disease Study (GBD) utilizing the website Clinicaltrials.gov. A total of 2809 studies in the 10 selected categories were reviewed. "Cognitive impairment" was present in 488 (17.4%) studies, "Behavioural and psychiatric disorders" was present in 616 (21.9%) studies, "Inability to grant informed consent" was present in 498 (17.7%) studies and the three explicit criteria were present, alone or in combination, in 1076 studies (38.3%). Other disability-related exclusion criteria were considered to be implicit exclusion criteria and were present in 1233 (43.9%) studies. A judgement was made on the correlation between the exclusion criteria and the primary objectives of the studies analyzed. The low level of representation of people with disabilities in RCTs, in addition to being an ethical problem, is a limitation of scientific knowledge because it considerably reduces the external validity of a significant part of medical research. There is a need to review the way scientific research designs are constructed, seeking to promote greater inclusiveness of people with disabilities.
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December 2021

Affective Disorders in Complex Disabilities: Strategies Empowerment for Improving the Lifestyle of the Disabled Person.

Psychiatr Danub 2021 Sep;33(Suppl 9):80-83

Serafico Institute, Viale Guglielmo Marconi, 6, 06081, Assisi, Italy,

The concept of physical and intellectual disability has experienced a series of changes and evolutions over time with regard to approach, classification and rehabilitation-therapeutic programs, since it contemplates a heterogeneous clinical phenomenology in terms of severity, complexity, pervasiveness and severity of the diagnosis. The significant repercussions on the quality of life mean that a comprehensive approach is required with attention to the physical, social, emotional, sensory and cognitive profile, and that there is a need for the adoption of classification systems and assessment tools that are different and in some ways pioneering, so as to guarantee the surpassing of the concept of disability as a "mere defect" physical and/or impairment and/or loss of psychological, physiological or anatomical function (Holden & Gitlesen 2003, Linden 2017, WHO 2001). It is exactly in contemplation of a bio-psycho-social model, that the International Classification of Functioning, Disability and Health (ICF) arises, which possesses a neutral position with respect to etiology and a complementarity with the ICD-10 classification (WHO 2001), since it allows the functional diagnosis (i.e. a specialized analytical description of the potential and deficits in relation to the pathology) proposing a detailed analysis of the possible social consequences of disability by evaluating the residual capacities and measuring the "social skills" (WHO 2001).
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September 2021

A New Rating Scale (SAVE-9) to Demonstrate the Stress and Anxiety in the Healthcare Workers During the COVID-19 Viral Epidemic.

Psychiatr Danub 2020 Sep;32(Suppl 1):5-9

Psychiatric Studies Center (Cen.Stu.Psi.), Piazza Portici, 11 - 25050 Provaglio d'Iseo (BS), Italy,

The COVID-19 epidemic has been a major global public health problem during past months in Italy and in several other Countries and on the date of publication of this article, is still a serious public health problem. The health staff, engaged in the care of the sick and in the prevention of the spread of the infection have been subjected to a further increase in psychological difficulties and work-related stress, related to the workload for the continuous influx of sick and intense and close working shifts for the viral emergency. The SAVE-9 (Stress and Anxiety to Viral Epidemics - 9 items) scale has been developed as a tool for assessing work anxiety and stress in response to the viral epidemic of health professionals working to prevent the spread of the virus and to treat infected people.
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September 2020

Factors affecting the relationship between adaptive behavior and challenging behaviors in individuals with intellectual disability and co-occurring disorders.

Res Dev Disabil 2020 Sep 22;104:103718. Epub 2020 Jun 22.

The Ohio State University, OH, USA.

Previous studies have reported an inverse relationship between adaptive behavior and challenging behaviors in individuals with ID. However, it is unclear which characteristics might influence this relationship in individuals with ID and co-occurring conditions. We found a positive correlation between adaptive behavior (Vineland-II) and challenging behaviors (Nisonger Child Behavior Rating Form) in a study of 105 individuals who presented with mostly severe to profound ID and comorbid physical and mental health conditions. These results might be the consequence of the individual participant characteristics. Therefore, participants were separated out into two groups representing the top (n = 24) and bottom quartiles (n = 28) for presence of challenging behaviors. The participants with the highest levels of challenging behaviors had higher levels of adaptive behavior, higher frequency of intermittent explosive/conduct disorder, but lower frequency of epilepsy and cerebral palsy. All participants with the highest levels of challenging behaviors lived in an institutional setting; whereas, those with the lowest level of challenging behaviors lived in either an institutional setting or with their family. In participants with severe/profound ID and multiple co-occurring disorders, a minimum level of adaptive behavior seems to be necessary for the expression of challenging behaviors.
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http://dx.doi.org/10.1016/j.ridd.2020.103718DOI Listing
September 2020

Mathematics Anxiety and Cognitive Performance in Adolescent Students.

Psychiatr Danub 2019 Sep;31(Suppl 3):479-485

Department of Philosophy, Social Sciences and Education, Perugia, Italy,

Several studies highlight that many students feel negative feelings about mathematical learning and that the mathematics anxiety seems to play a central role in mathematical performance. More specifically students with higher level of maths anxiety are less efficient in mathematical tasks. The aim of this study was to investigate the relationship between specific mathematics anxiety as assessed by AMAS, trait and state anxiety as assessed by STAI-Y, and mathematical skills assessed through the ABCA tests in a sample of 83 adolescent students (78.3% males) without diagnosis of dyscalculia and cognitive disorder attending their first year of secondary school. Results showed that 38% of the students referred high level of maths anxiety. Independent T-test revealed that female students referred a higher level of maths anxiety as well as of trait and state anxiety than male ones, while there were no differences in the mathematics performance. The simultaneous multivariate linear regression analysis showed that maths anxiety was influenced by trait anxiety and in its turn has an impact on the high level mathematics performances (i.e. arithmetic facts). Understanding the relationships between maths anxiety and maths learning and performance may have relevant implications in clinical, educational and didactic practice.
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September 2019

Urinary and bowel disfunction in autism spectrum disorder: a prospective, observational study.

Psychiatr Danub 2019 Sep;31(Suppl 3):475-478

San Donato Hospital, Department of Urology, Arezzo, Italy,

Background: Vesico- sphincter and bowel dysfunction have been frequently detected in Autism spectrum disorder (ASD) patients, but to date no consistent information exist on adults affected by the disease. We evaluated the prevalence and types of bladder and bowel disfunction (BBD) in young and adult patients affected by ASD.

Subjects And Methods: Twenty- seven adults and 20 children/teens with ASD and a matched group of typically developing subjects were enrolled. Daily pads use and episodes of urinary incontinence (UI) were recorded in a 3- day voiding diary. Patients underwent also the measurement of post-void urinary residual volume and 3- day bowel diary. In addition, type and duration of the pharmacological agents assumed by the patients were accurately recorded.

Results: Any type of UI was observed in 85.1% of adults and in 90% of children/teens. In adults, nocturnal enuresis (NE, 62.9%) and diurnal intermittent UI (37%) were the most frequently observed bladder dysfunction while in children/ teens were NE (75%) and diurnal continuous UI (40%). In all patients was demonstrated a significant relationship between urinary symptoms and pharmacological agents, particularly NE and clotiapine (p<0.004) and periciazine (p<0.008).

Conclusions: Young and adult patients with ASD present with a high prevalence of BBD and concomitant antipsychotic medications could to play a contribution in induction and/or maintaining of BBD.
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September 2019

The Effect of Mozart's Music in Severe Epilepsy: Functional and Morphological Features.

Psychiatr Danub 2019 Sep;31(Suppl 3):467-474

Istituto Serafico di Assisi, Viale Guglielmo Marconi, 6, 06081 Assisi, Perugia, Italy,

Music is a very important factor in everyday life, involving mood, emotions and memories. The effect of music on the brain is very debated. Certainly, music activates a complex network of neurones in auditory areas, mesolimbic areas, cerebellum and multisensory areas. In particular, music exerts its effects on the brain of patients with epilepsy, having a dichotomous influence: it can either be seizure-promoting in musicogenic epilepsy or antiepileptic. Several studies have shown that seizure-prone neural networks may be stimulated by certain periodicities while other frequencies may prevent seizure activity. There are a lot of data in the literature about the so-called "Mozart effect" (Rauscher et al. 1993). In previous studies we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of the cases. In this study we are conducting a survey on the observation of what happens to the brain of patients suffering from drug-resistant epilepsy through electroencephalographic investigations, brain MRI and behavioural analysis before and after six months of listening to Mozart music (Sonata K.448). The first step is to present the data of the first patient under investigation.
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September 2019

New technologies for art therapy interventions tailored to severe disabilities.

Psychiatr Danub 2019 Sep;31(Suppl 3):462-466

Atlas Centre, Str. Villa Gemini 4, 06126 Perugia, Italy,

Individuals with multiple disabilities can have a wide range of characteristics depending on the combination and severity of the disabilities, such as intellectual disability, mobility issues, sensorial impairment, language issues and brain injury. New technologies can help therapists find an alternative way to engage and interact with clients by opening a communication window and starting to build the therapeutic relationship. The need to use more customized technological tools led us to develop the Painteraction system, an intuitive tool based on Augmented Reality that allows clients to be immersed in their own images. Just by moving their bodies individuals are able to make drawings and receive visual feedback, both from themselves and their therapists, as it appears on the screen. The pilot testing of Painteraction was performed on 21 inpatients at Istituto Serafico (Assisi, Italy) with severe/multiple disabilities in order to explore and assess reaction and responsiveness in a semi-structured art therapy setting. The sample was formed by 14 males and 7 females (N=21) between the ages of 7 and 35. All participants attended three twenty-minute individual art therapy sessions which were approximately one week apart. Through direct and indirect (video recordings) observation of the sessions, it appeared that the specific Augmented Reality tool introduced in the art therapy setting was easily accepted by most of the clients involved and generally allowed the development of an interpersonal therapist-client relationship. The present study therefore gave us the opportunity to test new digital tools in the challenging setting of severe/multiple disabilities and observe the huge potential of new media to empower clients to express themselves and their creativity, and ultimately overcome mental and physical barriers. We propose that Augmented Reality tools are particularly well-suited to art therapy and create an equally suitable therapeutic environment to address specific client needs.
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September 2019

Evaluation of the Quality of Rehabilitation Treatment in Neurodevelopmental Disorder.

Psychiatr Danub 2019 Sep;31(Suppl 3):455-461

Istituto Serafico di Assisi, Viale Guglielmo Marconi, 6, 06081 Assisi, Perugia, Italy.

Complex disability is very difficult to manage. It usually subtends very serious clinical pictures, because it affect several body systems, or because it is associated with intellectual disability and behavioral disorders. Often affected patients are unable to communicate their basic needs. All these factors combine to make the management of these patients very complex, and those who care for them realize how important it is to find a way to detect their state and to identify their potential capabilities. Developing appropriate rehabilitation programs for these patients requires additional effort and an assessment capacity that is as objective as possible. Few scales cited in the literature are capable of evaluating these aspects in patients with complex disabilities, among them the Barthel Index (Mahoney & Barthel 1965) and the Vineland Adaptive Behavior scale II (Sparrow et al. 2005). The majority of these scales often tend to depict the data regarding the disease to a degree of severity that precludes adequate individual rehabilitation program development. There is a dire need for a more appropriate instrument, an observational grid that is capable of identifying the potential of this patient population and evaluate the effectiveness of rehabilitation interventions provided. The aim of the study is to evaluate the efficacy of rehabilitation interventions in a group of patients with IQ <32 (determined by the Vineland II scale) using an evaluation tool created ad hoc called D-Rubrics, designed with the intent to identify "micro-differences" between baseline (T0) and post-rehabilitation (T1). The goal is part of a more long term-term objective which involves developing an effective assessment tool for patients with complex disabilities. Such an assessment tool should be practical, easy to administer and useful in both clinical and research settings.
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September 2019

Beyond the Disease: "...Am I My Brother's Keeper?"

Psychiatr Danub 2019 Sep;31(Suppl 3):227-230

Istituto Serafico di Assisi, Viale Guglielmo Marconi, 6, 06081 Assisi, Perugia, Italy,

Today, the concepts of health and illness require a global vision of man; the suffering of the person places the entire environment in great difficulty: health professionals, family, society. It is important not to simplify the response to a purely health-focused view of the disorder, because fragile people possess a deep need to feel welcomed, listened to, understood and accepted. Service provision that is respectful of the dignity of the person is an important challenge both for those who are responsible for providing services to individuals and their families as well as for the entire community. Therefore in providing care the human qualities of the health professional and not only his technical skills come into play: blending together science and humanitarian ethos. The provision of care therefore "forces" us to broaden our horizons and requires us to face the challenge of responsibility towards the Other, the human condition of being-for. However, ethical capacity cannot be born solely out of sharing standards or adhering to regulations and respecting prohibitions: it stems from high and unconditional moral values and meanings. The ME-YOU relationship represents the primary ethical factor of the human being: my responsibility towards the Other is unconditional. In the book of Genesis when the Lord asks Cain: "... where is Abel, your brother?" He responds with another question: "Am I my brother's keeper?" In this biblical passage Cain kills Abel: the rejection of brotherhood and the care of the other only leads to the death of the Other. "Where is your brother?" This question is crucial in today's day and age and must be taken seriously: it is the decisive question that forces us to decide how to place ourselves in relationship with the other and with the world: do we choose proximity or distance, connection or indifference?
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September 2019

Bladder and bowel dysfunction, adaptive behaviour and psychiatric profiles in adults affected by autism spectrum disorders.

Neurourol Urodyn 2019 09 3;38(7):1866-1873. Epub 2019 Jul 3.

Department of Medical and Surgical Sciences and Neurosciences, Functional and Surgical Urology Unit, University of Siena, Siena, Italy.

Aims: Bladder and bowel dysfunction (BBD) have been recognized in children affected by autism spectrum disorder (ASD), but no consistent information exist in adults with the condition. We evaluated the prevalence of BBD and the impact of psychiatric and behavioural profiles in adults affected by ASD.

Methods: Twenty-two adults and 13 children/teens with ASD and a matched group of typically developing subjects (TD) were prospectively studied. Patients and TD subjects underwent the evaluation of urinary incontinence (UI: diurnal, continuous or intermittent), nocturnal enuresis (NE), and bowel disturbances with the 3-day voiding and bowel diary. In addition, assessment of intellectual disability (ID) and psychiatric and adaptive behaviours with the Neuropsychiatric Inventory Scale (NPI) and the Vineland Adaptive Behaviour Scale 2nd Edition (Vineland-II), was performed.

Results: In adults, any type of incontinence was observed in 81.8% of cases, and NE and intermittent UI in 59.0% and 36.3% of patients, respectively. Faecal incontinence and constipation were detected 36.3% and in 68.1% of cases, respectively. ID was severe in 2 cases and profound in 18; NPI and Vineland-II items most affected were "Irritability/Lability," "Motor Activity," and "Agitation," and IQ-Socialization and IQ-Communication. Significant relationships were identified between intermittent UI and greater ID (P < .02) and high "anxiety" (P < .05), and between NE and high "euphoria/elevated mood" (P < .05). These results were similar to those observed in children/teens.

Conclusions: Adults with ASD, and greater ID and mood disorders, present with a high prevalence of BBD. A shared pathogenetic mechanism could underlie the co-occurrence of ASD, mood disorders, and BBD.
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http://dx.doi.org/10.1002/nau.24081DOI Listing
September 2019

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Eur J Hum Genet 2019 08 1;27(8):1260-1266. Epub 2019 Apr 1.

Medical Genetics Unit, University-Hospital "Santa Maria della Misericordia", Perugia, Italy.

Schilbach-Rott syndrome (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, and recurrence in two of these families suggests an autosomal dominant inheritance. SRS overlaps with a mild form of holoprosencephaly (HPE), but array-CGH analysis and sequencing of some HPE-related genes (SEPT9, SHH and TWIST) did not reveal any variants in at least one family. Herein, we investigated by array-CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter-father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32(98,049,611_98,049,636)x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1. The duplication segregated with the disease, since it was not found in the healthy paternal grandparents of the proband. The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. This is the first genetic variant found in SRS. This finding reinforces the hypothesis that SRS belongs to the HPE clinical spectrum and suggests to perform array-CGH in patients with SRS phenotype and, if negative, to consider a potential benefit from sequencing of HPE-related genes.
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http://dx.doi.org/10.1038/s41431-019-0385-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777447PMC
August 2019

Effectiveness of serotonergic drugs in the management of problem behaviors in patients with neurodevelopmental disorders.

Psychiatr Danub 2018 Nov;30(Suppl 7):644-647

Istituto Serafico di Assisi, Viale Guglielmo Marconi n.6 06081, Assisi, Perugia, Italy,

Neurodevelopmental disorders often result in disabilities associated with auto- and / or hetero-aggressive behaviors, that can be defined as "problem behaviors" (Lacy 2007). Therapeutic interventions are mainly directed towards the use of neuroleptic drugs or benzodiazepines, to ensure a rapid and significant sedation in most of cases. These pharmacological devices exposes the patient to clinical risks and/or long-term management difficulties. The main problem of the chronic use of benzodiazepines is the development of tolerance and dependence; furthermore benzodiazepine withdrawal or their abrupt reduction may lead to rebound effect. Regarding the long-term effects of neuroleptics, it is necessary to focus on extrapyramidal effects, motor restlessness and akathisia, anticholinergic effects, as well as endocrine and metabolic alterations. Several studies have shown that the reduction of serotonergic receptor activity is associated with the appearance of aggressive behavior (Farnam et al. 2017), especially impulsive behaviors (Manchia et al. 2017, Takahashi et al. 2012). The dynamics that subtend these data are still not fully clarified, however there are evidences that the use of selective serotonin reuptake inhibitors (SSRI) is helpful in the treatment of aggressive behavior in mental disabilities (Sterke et al. 2012, Janowsky et al. 2015). In this study we observe the behavioral response to sertraline, for minors, and to vortioxetine, for adults, considering that the literature shows significant evidence of modulation of synaptic neuroplasticity (Waller et al. 2017). To support the observation we used behavioural scales to collect the data, before the administration of the drug, during the course of treatment, at 3 months from the start of the administration. We detected the improve of behavioral disorders with the less use neuroleptic drugs and benzodiazepines.
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November 2018

Mozart's music and multidrug-resistant epilepsy: a potential EEG index of therapeutic effectiveness.

Psychiatr Danub 2018 Nov;30(Suppl 7):567-571

Istituto Serafico di Assisi, Viale Guglielmo Marconi n.6 06081, Assisi, Perugia, Italy,

Multidrug-resistant epilepsy is a pathological condition that affects approximately one-third of patients with epilepsy, especially those with associated intellectual disabilities. Several non-pharmacological interventions have been proposed to improve quality of life of these patients. In particular, Mozart's sonata for two pianos in D major, K448, has been shown to decrease interictal electroencephalography (EEG) discharges and recurrence of clinical seizures in these patients. In a previous study we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of cases. This study aims to assess electroencephalography as a quantitative (qEEG) predictive biomarker of effectiveness of listening to music on the frequency of epileptic discharges and on background rhythm frequency (BRF).
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November 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development. The NBAS protein has been implicated in two key cellular processes, namely the non-sense mediated decay and the Golgi-to-Endoplasmic Reticulum retrograde traffic. Both functions were impaired in HEK293T cells overexpressing the truncated NBAS protein, as assessed by Real-Time PCR, Western blot analysis, co-immunoprecipitation, and immunofluorescence analysis. We examined the expression of NBAS protein in mouse embryos at various developmental stages by immunohistochemistry, and detected expression in developing chondrogenic and osteogenic structures of the skeleton as well as in the cortex, hippocampus and cerebellum, which is compatible with a role in bone and brain development. Functional genetics in the zebrafish model showed that depletion of endogenous z-nbas in fish embryos results in defective morphogenesis of chondrogenic cranial skeletal elements. Overall, our data point to a conserved function of NBAS in skeletal morphogenesis during development, support the hypothesis of a causative role of the mutated NBAS gene in the pathogenesis of AFFND1 and extend the spectrum of phenotypes associated with defects in this gene.
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http://dx.doi.org/10.1016/j.bone.2018.06.013DOI Listing
September 2018

Effects of music on seizure frequency in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy.

Psychiatr Danub 2017 Sep;29(Suppl 3):399-404

Istituto Serafico, via G. Marconi 6, 06081 Assisi, Perugia, Italy,

Background: Approximately one-third of patients with epilepsy continue to experience seizures despite adequate therapy with antiepileptic drugs. Drug-resistant epilepsy is even more frequent in subjects with intellectual disability. As a result, several non-pharmacological interventions have been proposed to improve quality of life in patients with intellectual disability and drug-resistant epilepsy. A number of studies have demonstrated that music can be effective at reducing seizures and epileptiform discharges. In particular, Mozart's sonata for two pianos in D major, K448, has been shown to decrease interictal EEG discharges and recurrence of clinical seizures in patients with intellectual disability and drug-resistant epilepsy as well. The aim of this study is to investigate the influence of Mozart's music on seizure frequency in institutionalized epileptic subjects with profound/severe intellectual disability.

Subjects And Methods: Twelve patients (10 males and 2 females) with a mean age of 21.6 years were randomly assigned to two groups in a cross-over design; they listened to Mozart K448 once a day for six months.

Results: A statistically significant difference was observed between the listening period and both baseline and control periods. During the music period, none of the patients worsened in seizure frequency; one patient was seizure-free, five had a greater than 50% reduction in seizure frequency and the remaining showed minimal (N=2) or no difference (N=4). The average seizure reduction compared to the baseline was 20.5%. Our results are discussed in relation to data in the literature considering differences in protocol investigation.

Conclusions: Music may be considered a useful approach as add-on therapy in some subjects with profound intellectual disability and drug-resistant epilepsy and can provide a new option for clinicians to consider, but further large sample, multicenter studies are needed to better understand the characteristics of responders and non-responders to this type of non-pharmacological intervention.
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September 2017

Personality disorders features in a sample of women with perinatal depression in Perugia, Italy.

Psychiatr Danub 2017 Sep;29(Suppl 3):323-332

Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Medicine, University of Perugia, Ellisse Edificio A Piano 8, Loc. Sant'Andrea delle Fratte, 06156 Perugia, Italy,

Background: Antepartum depression (APD) and postpartum depression (PPD) are a significant public health problem. Aim of the study was to determine which personality disorders features could be found in women with APD and PPD compared to women without perinatal depression.

Subjects And Methods: The Edinburgh Postnatal Depression Scale and the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) were administered during peripartum to a sample of 54 women recruited at the Obstetrics and Gynaecology Unit, Perugia (Italy).

Results: Results were grouped according to the EPDS ranges 0-8 and ≥9, and to the MMPI-2 scores on each clinical scale. Women with APD had high scores on the MMPI-2 Hypomania, Cynicism, and Antisocial Practices scales; women with early onset PPD (detected in the first week after childbirth) had high scores on the Paranoia and Low Self-Esteem scales; women with late onset PPD (detected up to three months after childbirth), had high scores on the Fears, Obsessiveness, and Depression scales.

Conclusions: Based on the high scores of specific MMPI-2 scales, our study would suggest that: cluster B personality features may represent a vulnerability factor for APD; passive-aggressive personality features may be a vulnerability factor for early onset PPD; cluster C personality features may act as a vulnerability factor for late onset PPD.
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September 2017

Bipolar disorder: The importance of clinical assessment in identifying prognostic factors - An Audit. Part 3: A comparison between Italian and English mental health services and a survey of bipolar disorder.

Psychiatr Danub 2014 Nov;26 Suppl 1:309-14

School of Specialization in Psychiatry, Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Medicine, University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Background: Most of the prognostic factors of bipolar disorder, which determine disease course and outcome, could be detected from simple but often-unrecorded questions asked during the psychiatric clinic assessments. In previous parts of this research, we analysed various prognostic factors and focused on mixed states and rapid cycling subsets. We now compare our sample in England with a small sample from Italy to demonstrate the utility of focused prognostic questioning and of international comparison.

Methods: We collected data from the clinical notes of 70 English bipolar and 8 Italian bipolar outpatients seen at the initial psychiatric assessment clinic about socio-demographic and clinical factors to determine whether various factors had relevance to prevalence, prognosis, or outcome.

Results: The sample comprised 16 bipolar I (22.9%) and 54 bipolar II (77.1%) English outpatients and 7 bipolar I (87.5%) and 1 bipolar II (12.5%) Italian outpatients. Differences between the groups are seen mainly in terms of age of onset, duration of both depressive and hypomanic episodes, presence of psychiatric family history, incidence of mixed state features and rapid cycling, presence of elated mood in response to past antidepressant treatment, and misuse of illicit drugs and alcohol.

Conclusions: In order to promote improved mental health primary care, mental health systems in all countries should develop standardized epidemiological tools that are shared between countries. We recommend the use of a questionnaire that reminds clinicians of potentially prognostic information and suggest that this might identify important components of a potential standardized diagnostic and prognostic tool.
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November 2014

Bipolar disorder: The importance of clinical assessment in identifying prognostic factors - An Audit. Part 2: Mixed state features and rapid cycling.

Psychiatr Danub 2014 Nov;26 Suppl 1:301-8

School of Specialization in Psychiatry, Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Medicine, University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Background: Rapid cycling in bipolar disorder complicates the clinical picture and worsens the long-term outcomes of bipolar disorder. Mixed states features do similarly and are known to present an increased risk to patients. Early recognition of these patterns can lead to better treatment strategies and improvement of the long-term course of the disease.

Method: We collected data from the clinical notes of 70 bipolar outpatients seen at an ASPA (initial assessment) clinic about socio-demographic and clinical characteristics.

Results: The sample comprised 16 bipolar I (22.9%) and 54 bipolar II (77.1%) outpatients; percentages reported in our results are of the sample for which the data was available. 71.7% (33 patients) of the sample reported mixed states features and 32 patients (72.7%) are recorded to have more than 4 changes in mood in a year. There were no statistically significant correlations between mixed state features or rapid cycling and anhedonia, suicidal ideation, borderline symptoms, OCD symptoms, anxiety, positive psychiatric family history, current alcohol use, previous alcohol use, current illicit drug use, or previous illicit drug use. An almost significant correlation was found between mixed state features and anxiety. Assignation of a care coordinator did not seem to be associated with these prognostic factors.

Conclusions: The two subgroups of mixed state features and rapid cycling patients share very common clinical characteristics: high incidence of suicidal thoughts, high levels of anxiety, and high previous substance use - but low levels of current alcohol and drug use and high levels of features of atypical depression. These features of mixed state bipolar disorder and rapid cycling bipolar disorder should be identified during psychiatric assessment to identify useful information for prognosis.
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November 2014

Bipolar disorder: The importance of clinical assessment in identifying prognostic factors - An Audit. Part 1: An analysis of potential prognostic factors.

Psychiatr Danub 2014 Nov;26 Suppl 1:289-300

School of Specialization in Psychiatry, Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Medicine, University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Background: Prognostic factors of bipolar disorder must be identified to assist in staging and treatment, and this may be done primarily during the initial psychiatric assessment. In fact, most of the prognostic factors, which determine disease outcome, could be detected from simple but often-unrecorded questions asked during the psychiatric clinic visit.

Methods: We collected data from the clinical notes of 70 bipolar outpatients seen at the initial psychiatric assessment clinic about socio-demographic and clinical factors to determine whether various factors had relevance to prevalence, prognosis, or outcome.

Results: The sample comprised 16 bipolar I (22.9%) and 54 bipolar II (77.1%) outpatients; a psychiatric comorbidity was noted in 26 patients (37.1%). 60.9% (42 patients) reported anxiety features and 12 patients (17.6%) were noted to have obsessive-compulsive characteristics. Percentages reported in our results are of the sample for which the data was available. Anhedonia is a depressive feature that was present in most of the population where this data was available (92.2%, 59 patients) and 81.8% (54 patients) reported suicidal thoughts during a depressive episode. 74.6% (47 patients) had a family history of bipolar disorder, depression, suicide or psychosis. 27 patients (39.7%) reported current alcohol use and 14 patients (22.6%) current illicit drug use. A comparison between 10 prognostic factors found that only the correlations between current illicit drug use/previous illicit drug use (χ(2)=11.471, P<0.001), current alcohol use/previous alcohol use (χ(2)=31.510, P<0.001) and current illicit drug use/anxiety (χ(2)=5.094, P=0.022) were statistically significant; the correlation between previous illicit drug use/previous alcohol use (χ(2)=5.071, P=0.023) and previous alcohol use/family history (χ(2)=4.309, P=0.037) were almost statistically significant. 17 patients (24.3%) of the 70 bipolar patients were assigned to a care coordinator; we have evaluated the possible differences between the patients with or without a care coordinator on the basis of the presence of 10 possible prognostic factors and found no statistically significant differences between these two groups of patients.

Conclusions: We have identified several trends in our patients with bipolar disorder that agree with previous research. Our sample suggested that the assignation of a care coordinator is not done on a clinical basis. In our sample, some patients were found not to have information available so we suggest that a questionnaire to remind clinicians of potentially useful information would be helpful to aid in prognostication. In particular, specific features of the disease, like family history, age at onset, and features of depressive episodes may be highlighted as our sample suggests that these are often unrecorded when not known or negative.
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November 2014

Mixed States: a "new" nosographic entity.

Psychiatr Danub 2014 Nov;26 Suppl 1:103-11

School of Specialization in Psychiatry, Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Medicine, University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Objective: Mixed states represent a controversial topic in the current psychiatry. The definitions and the diagnostic criteria have changed over the past years. The new DSM-5 classification will have a substantial impact in several fields: epidemiology, diagnosis, treatment, research, education, and regulations.

Methods: We reviewed the latest literature by using the key words "mixed states" and "agitated depression" on the PubMed.

Results: Although there is a great expectation about the validity of the new DSM-5 mixed states diagnosis, little is known about its application on large population study but the formulation of less restrictive and more specific criteria for the diagnosis of mixed states represent a starting point for future researches, mainly in consideration of the fact that previous classifications consider the MS a superposition of manic and depressive symptoms, underestimating the clinical complexity and the wider phenomenologic variability of these conditions.

Conclusions: Clinical trials need to address treatment effects according to the presence or absence of mixed features in consideration of the fact that replacing in the bipolar spectrum patients that traditionally are considered to be affected by unipolar depression, represent a topical research hypothesis and has a practical remarkable importance in the appropriate therapeutic choice.
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November 2014

Assessing and staging bipolar disorder.

Br J Psychiatry 2014 Jun;204(6):493-4

Mark Agius, Clare College, Cambridge, UK. Email: Jonathan Rogers, Caius-Gonville College, Cambridge, UK; Eva Bongards, Christ's College, Cambridge, UK; Stuart O'Connor, University of Warwick, UK; Norma Verdolini, University of Perugia, Italy; Sandro Elisei, University of Perugia, Italy.

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http://dx.doi.org/10.1192/bjp.204.6.493aDOI Listing
June 2014

Comparing a Community Mental Health team in Bedford (UK) with Community Mental Health Services in Perugia (Italy): description of teams and caseloads.

Psychiatr Danub 2013 Sep;25 Suppl 2:S315-23

Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Clinical and Experimental Medicine - University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Introduction: The aim of our work is to evaluate and compare some of the key indicators that characterize one English Community Health team (Bedford), two Italian Mental Health Services, in Bastia and Magione, and one University Hospital Mental Health Service, in Perugia. Our work was conducted on the basis of a collaboration between Cambridge University (UK) and the University of Perugia (Italy).

Subjects And Methods: We analyzed and described the teams supplying information about the number of psychiatrists, types of staff and populations in the catchment areas. Furthermore, we analyzed their caseloads, referring to the epidemiologic features and the diagnostic aspects. We considered the population that were referred to the services in February 2013.

Results: There are some differences between the organization of the teams and the caseloads of the Community Mental Health Services in Italy and in England and between the community health services and the hospital service. As for the diagnostic aspects, Mood Disorders seem to be the most frequent diagnosis in each service (Bedford 53.8%, Perugia 48%, Magione 45%, Bastia 38%).

Conclusions: The World Health Organisation identifies strong links between mental health status and development for individuals, communities and countries. In order to improve the mental health of the population, countries need effective and accessible treatment, prevention, and promotion programs. Achieving adequate support for mental health in any country requires a unified and shared approach. Little research has been done to describe the Mental Health Services in the different countries of the world, consequently more studies are needed to assess the improvements in the mental health system in relation to the services available for the population. In our study, according to the literature, we detected that mood disorders are the most frequent cause of referral to mental health services in all the populations studied.
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September 2013

Mood disorders in general hospital inpatients: one year data from a psychiatric consultation-liaison service.

Psychiatr Danub 2013 Sep;25 Suppl 2:S268-71

Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Clinical and Experimental Medicine - University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Background: Mood disorders (MD) show higher prevalence among psychiatric disorders. As a matter of fact 10% of inpatients in non psychiatric health care structures are affected by MD. A consultation-liaison service bridges the gap between psychiatric and other medical disciplines and increases the cooperation in the context of care, improving the diagnostic process for all inpatients in medical wards.

Subjects And Methods: Our sample is composed of 1702 patients assessed from 1 January 2012 to 31 December 2012 referred from the wards for psychiatric specialist evaluation in Santa Maria della Misericordia, Perugia, Italy. Each patient was assessed by a consultant psychiatrist performing a psychiatric interview leading to a diagnosis according to DSM-IV-TR criteria. Clinical and sociodemographic data were collected and registrered in the clinical records. SPSS software (ver. 18) was used for data analysis. Chi-square test and T-student tests were performed as appropriate. A p-value<0.05 was considered statistically significant.

Results: 17% of our sample shows a diagnosis within the mood disorder spectrum. As for the source of referrals we find that 51.4% came from the Emergency room, 39% from medical wards and 9.4% from surgical wards. On the basis of the consultation referral urgent status we found that 84% of requests needed to be seen within 24 h, most of them come from Emergency room. Statistically significant correlations can be found between the source of referrals, the reasons for the referrals, psychiatric care prior to the evaluation and the psychiatric disorder which was diagnosed during the assessment.

Conclusions: Consultation-liaison service for MD in an italian general hospital is generally based on emergency/urgency referrals from the Emergency room for patients already assessed to mental care facilities by private or national health service psychiatrists.
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September 2013

Resilience and depressive disorders.

Psychiatr Danub 2013 Sep;25 Suppl 2:S263-7

Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Clinical and Experimental Medicine - University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Introduction: There is considerable variability in the response of individuals to adverse environmental conditions, while some develop psychiatric illnesses like depression, others seem very capable of dealing with it. It is in this observation that the concepts of vulnerability and resilience are rooted.

Methods: We conducted a review of the literature by inserting in PubMed the keywords resilience, vulnerability and depressive disorders.

Discussion And Conclusions: Freud formerly used the so-called crystal-principle to describe the concept of vulnerability: according to this, the different psychopathologies would arise depending on the different psychological weaknesses, just like a crystal thrown to the ground shatters along its lines of cleavage intrinsic to it, albeit invisible. The term resilience has been borrowed from physics where it is used to describe the ability of a material to withstand impact without cracking. In psychology, the term resilience refers to a complex and dynamic multidimensional construct, which derives from the interaction of neurobiological, social and personal factors and indicates the ability to adaptively cope with stress and adversity, preserving a normal physical and psychological functioning. Resilience has proven to be a protective factor against the development of psychiatric disorders such as depression. Making a conceptual leap, the concepts of vulnerability and resilience can be related to the psychodynamic classification of depression postulated by Gaetano Benedetti, who distinguished four kinds of depression: the first due to the failure of the ego, the second to the perversion of the superego, the third to the inhibition of the Id and the fourth to the collapse of the ego ideal. It is possible to improve the resilience of depressed subjects through pharmacological and psychotherapeutic interventions.
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September 2013

Perinatal depression: a study of prevalence and of risk and protective factors.

Psychiatr Danub 2013 Sep;25 Suppl 2:S258-62

Division of Psychiatry, Clinical Psychology and Rehabilitation, Department of Clinical and Experimental Medicine - University of Perugia, Santa Maria della Misericordia Hospital, Perugia, Italy,

Background: International literature has shown that Postpartum Depression (PPD) has a significant social and relational impact on mothers and their partners, on the interaction between mother and child, as well as on the cognitive and emotional development of the child. The goal of this study is to increase the epidemiological knowledge of PPD and to evaluate both risk and protective factors.

Subjects And Methods: Our study is based on the administration of three tests, Paykel's Life Events Scale, EPDS and MMPI-2, at three distinct time point (during the third trimester, 72 hours after delivery, and three months after delivery, respectively) to a sample of women recruited in the Prenatal Medicine Clinic at the Hospital of Perugia. The data collected was statistically analyzed.

Results: The prevalence of PPD 72 hours after delivery was 11%, while the prevalence of PPD three months after delivery was 16.7%. Antepartum Depression (APD), measured using EPDS cut-offs scores of 9 and 14, was found to be a statistically significant risk factor for the development of PPD, while desired life-events during pregnancy can represent a protective factor.

Conclusions: The prevalence of PPD that we measured, in agreement with that found in the literature, demonstrates that despite the fact that the diagnostic criteria of the DSM-IV refer to PPD only if it develops within 4 weeks after delivery, PPD can also develop after this period. Furthermore, it appears that monitoring APD and encouraging a psycho-socially serene pregnancy are important for prevention of PPD. In the case of APD it was shown that monitoring women with even light depressive symptoms is important, because these women are more likely to then develop PPD.
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September 2013
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