The Department of Human Neurosciences supports the research of its faculty by encouraging national and international project planning, the "protagonism" of younger researchers in project leadership, interdisciplinary research, and the departmental coordination of research funding initiatives.
The Department's professors and researchers conduct research programs with a high scientific impact, many of which are carried out in collaboration with universities and research centers at an international level. This results in a high number of publications within the international guidelines and recommendations for the diagnostic and therapeutic management of various pathological conditions. The intense research activity that animates the Department of Human Neurosciences is evidenced by the high number of innovative projects aimed at uncovering the etiopathogenetic mechanisms underlying various morbid processes and identifying new disease biomarkers. The effective collaboration among the Department's research groups ensures an enrichment in terms of multidisciplinarity, the advancement of synergistic projects across various specialties, and an openness to new expertise, which allows access to national and international grants that require a multidisciplinary approach.
The main research activities of the Department are organized into various Research Groups that work on multidisciplinary and interdisciplinary thematic lines. Figure 1 represents the number of faculty members in the various research groups.
Figura 1 number of faculty members in the various research groups
Neurology
In the field of neurology, the main research topics focus on the pathophysiology of the motor system, movement disorders (Parkinson's disease, atypical parkinsonisms, essential tremor, dystonias, tics, ataxias), neurodegenerative diseases (dementias), time-dependent pathologies (cerebral stroke), multiple sclerosis, epilepsies, neuromuscular diseases, and neuropathic pain.
The research lines on movement disorders have led to particularly significant results in understanding the pathophysiological mechanisms of the motor symptoms of Parkinson's disease and Essential Tremor, as well as the neurophysiological mechanisms of dystonias. The identification of new biological markers, such as salivary alpha-synuclein in patients with Parkinson's disease, has also been important. The contribution to drafting European guidelines for the treatment of Parkinson's disease has been notable as well.
In the area of dementias, the identification of early markers for degenerative dementias and new pharmacological treatments is worthy of note. Studies conducted at the Department have helped to define and characterize the concept of fragility in a neurological context and to describe its relationship with cognitive function. Furthermore, research has been developed aimed at phenotyping degenerative dementias (such as Lewy Body Dementia) and, for the first time, describing the clinical and care impact of cognitive disorders in migrant and refugee populations.
Research on stroke has made significant progress in therapies for the acute phase and secondary prevention of ischemic stroke within the context of national and international multicenter trials. Additionally, national and international guidelines for the therapy and diagnosis of stroke have been developed.
Research on multiple sclerosis has provided a better understanding of the neurophysiological mechanisms underlying the disease and the study of new innovative drugs for the condition.
For epilepsy, the use of EEG recording techniques and EEG/fMRI co-registration has allowed for a better understanding of the mechanisms behind the induction and maintenance of epileptic seizures and status epilepticus.
Studies on the mechanisms of pain have enabled a better characterization of the pathophysiology of trigeminal pain and neuropathic pain in general, as well as the sensory alterations in peripheral neuropathies. Research in this field has also led to the identification of biomarkers capable of predicting the response to pharmacological treatment and the development of innovative neurophysiological and morphometric techniques for the study of nociceptive afference.
In the field of neuromuscular diseases, important results have been achieved for Amyotrophic Lateral Sclerosis with neurophysiology studies and innovative therapies for forms with a genetic etiology. Prognostic blood markers for the disease's evolution have been identified, and research has been conducted on the role of muscle in the pathophysiological mechanisms of the disease. Neurophysiological techniques for the study of transthyretin-mediated amyloidosis neuropathy have been validated, and epidemiological studies of the hereditary form have been carried out. Similar progress has been made, in collaboration with other research institutions, in the study of the pathophysiology of other motor neuron diseases like spinal muscular atrophy and in autoimmune neuromuscular diseases, such as myositis and autoimmune neuropathies. In this context, new therapies for neuromuscular junction diseases have been proposed.
Neuroradiology
Neuroradiological research is carried out thanks to the availability of two high-field (3T) magnets with advanced acquisition software, a latest-generation CT scanner, and a dedicated angiography suite. The images are processed using workstations with analysis software that allows for the extraction of quantitative information from raw data on cerebral volumetry (voxel-based morphometry, surface-based morphometry, ROI-based morphometry), on brain activity both during task execution (task-based fMRI) and at rest (resting-state fMRI), on the ultrastructure of white matter (cerebral tractography), and on perfusion. The information obtained is used to create statistical maps and models that allow for the extrapolation of significant changes under different experimental conditions.
By its nature, the scientific output of Neuroradiology is created in collaboration with other disciplines, primarily within the fields of clinical and experimental Neurosciences. Using the acquisition and neuroimaging analysis tools described above, significant results have been obtained in advancing current knowledge of various neurological, neurosurgical, and psychiatric pathologies. Of particular relevance are studies on multiple sclerosis (characterization of ultrastructural, morphological, and functional changes at various stages of the disease and in response to therapies, including with artificial intelligence methods). The research group has contributed to the establishment of the national multiple sclerosis neuroimaging registry (INNI).
In the area of movement disorders, important results have been obtained in understanding the anatomical and functional brain connectivity in patients with parkinsonian syndrome, dystonia, and essential tremor. Advanced techniques for analyzing anatomical and functional images have contributed to a better understanding of the pathophysiology of pain in experimental models, in migraines, trigeminal neuralgia, and fibromyalgia.
Other areas of application for morphometric and functional studies have been psychiatric pathologies (schizophrenia, psychopathy), neuromuscular diseases (Bell's palsy, myotonic dystrophy), dementias (Lewy body disease, frontotemporal dementia), tumors (pituitary adenomas), and rare diseases (Gaucher's disease).
In the field of cerebrovascular diseases, research protocols on pathophysiology and therapy (hemodynamics of ischemic and hemorrhagic stroke and cerebral vascular malformations, functional brain correlates of carotid stenoses) are being continued and expanded, also thanks to the work of the Interventional Neuroradiology group.
Neurosurgery
In neurosurgery, the group conducts clinical and pre-clinical research to identify new diagnostic and therapeutic methods for brain tumors. These research lines include molecular analysis in adult brain tumors, primary cell lines of glioblastomas, generation of PDX (patient-derived xenografts) models, and anti-tumor evaluation of various pharmacological agents.
The research is also focused on pituitary tumors treated endoscopically, on prognostic evaluation in patients >70 years old suffering from post-traumatic intracerebral hematomas, and on the study of vascular malformations. Preliminary results have also been obtained through minimally invasive instrumented vertebral surgery for the treatment of oncological, degenerative, and traumatic pathology.
The study of neurodegenerative pathologies associated with altered cerebrospinal fluid dynamics has led to a different classification and surgical treatment, broadening the possibilities of care for a variety of pathological conditions in the neurosurgical area. New perspectives on cerebral reperfusion are being studied for patients with acute brain injury.
Child and Adolescent Neuropsychiatry
The research group in the neurological sector of Child and Adolescent Neuropsychiatry is oriented towards the study of the main neurodegenerative, inflammatory, and seizure-related diseases of the central nervous system. In particular, the main research lines concern:
- Movement disorders, epilepsies, neurodegenerative and neurometabolic pathologies with onset in childhood and adolescence.
- Tourette syndrome and related conditions, as well as ADHD.
Important results have been obtained in studies that have demonstrated metabolic and genetic alterations in these diseases. Furthermore, a significant achievement was the preparation of International Guidelines for the following rare childhood diseases: Phenylketonuria, AADC deficiency, BH4 deficiency, TH deficiency, and the activation of a Gene Therapy for AADC deficiency.
The psychiatric sector of Child and Adolescent Neuropsychiatry is oriented toward research on Mental Disorders in childhood and adolescence. Specifically, for childhood disorders, the main research areas are:
- Neurodevelopmental Disorders and Autism Spectrum Disorders (genetic and metabolic alterations associated with the disorder; clinical research on treatment effectiveness).
- Psychopathological disorders with onset in childhood (very early onset personality disorders; determinants of social withdrawal).
Regarding adolescent disorders, the main research areas include the study of:
- Emerging pathologies in adolescence (suicidality, parasuicidality, emotional dysregulation, early-onset personality disorders: tools for differential diagnosis, treatment effectiveness; analysis of neurophysiological markers of vulnerability and outcome).
- Psychotic risk and early stages of Schizophrenic Disorder in adolescence (follow-up, outcome studies).
- Psychopathology associated with Gender Dysphoria.
Clinical Psychology
During the reference three-year period, researchers belonging to the CUN 11b Area, as per the 2019-2022 strategic plan, focused on developing three important research areas. The first involved the study of the credibility of response profiles to the most common assessment questionnaires. More specifically, research was carried out to investigate with innovative behavioral tools the tendency to respond in a socially desirable way (i.e., faking-good), the results of which led to the production of scientific publications and were presented at the most important international Clinical Psychology conferences (e.g., Society for Personality Assessment Conference and International Congress of Psychology). The study of the phenomenon of over-reporting, a complementary phenomenon to the previous one, led to collaboration with renowned experts from other Italian and international universities.
The second research area focused on the study of the financial capabilities, suggestibility, and acquiescence of elderly and fragile individuals, leading to publications, conference presentations, and the creation of an ad hoc psychodiagnostic tool, which is currently undergoing validation. Another research activity focused on the phenomenon of homicide and homicide-suicide in Italy, for which epidemiological analyses were performed, resulting in publications with colleagues from the ISS (Italian National Institute of Health), some of which are currently under peer-review.
Furthermore, regarding the COVID-19 pandemic, researchers in this area obtained significant results in the evaluation of the immediate and long-term psychological responses following the spread of the virus, and they published the first Italian study on the topic in an international journal, which has more than 1,100 citations and was awarded a merit recognition. Still in the context of the pandemic, numerous other studies were conducted on specific populations (e.g., parents, students, psychiatric patients) and on compliance with contagion containment measures. In many of the area's research activities, artificial intelligence techniques (e.g., machine learning) and innovative software for collecting behavioral measures (e.g., Real-eye, Mouse Tracker) were used.
Psychiatry
The research lines in psychiatry are oriented towards the descriptive and phenomenological psychopathology of psychiatric disorders, consultation psychiatry, emergency psychiatry, eating disorders, psychiatric interventions without consent, and some specific areas such as psychiatric disorders in patients with movement disorders, psycho-oncology, postpartum depression, genetic and functional alterations in schizophrenic psychoses, and obsessive-compulsive spectrum disorders. Significant results have been achieved in the characterization of mental disorders in migrant populations, in psychiatric treatments, in the evaluation of needs, and in psychiatric and psychological interventions for the migrant population. Furthermore, substantial results have been obtained in evaluating the impact of the COVID-19 pandemic on the mental health of vulnerable subjects (hospitalized patients, patients with chronic diseases, and others) and the general population.
Forensic Psychopathology
In the field of forensic psychopathology, research has focused on the use of artificial intelligence in various contexts such as: the evaluation of the risk of recidivism in psychiatric patients deemed socially dangerous; informed consent to treatment in fragile subjects; organizational issues of mental health services and in a penitentiary setting related to psychiatric patients who have committed crimes; and problems with the assessment of psychic damage. Also noteworthy is the development of restorative justice methods in light of the Cartabbia Reform and the Restorative Justice Project in the Democratic Republic of Congo.
Rehabilitation
The rehabilitation research group (MED/48) is engaged in numerous studies related to physiotherapy, occupational therapy, speech therapy, and orthoptics in a neurological context. The main research lines concern the evaluation of rehabilitation effectiveness in the different phases of a disease, both in acute and subacute conditions and for chronic conditions, with particular reference to stroke, Parkinson's disease, and multiple sclerosis.
Specific rehabilitation protocols have been defined for painful shoulders and micrographia in Parkinson's disease, fatigue management in multiple sclerosis, and protocols have been established with research bodies and companies for monitoring rehabilitation at home. The research group participates in an international commission for the revision of the PRISMA-COSMIN checklist. Another fruitful research line is the study of the effectiveness of multiple mobility aids, such as the evaluation of wheelchairs and the study of an innovative elastic exoskeleton system for walking in multiple sclerosis.
Finally, the working group has promoted the creation of an outpatient clinic for migrants, offering rehabilitation services and providing aids, particularly for asylum seekers, refugees, and those with a temporary stay permit, a service unique in its kind in the Lazio Region. All the group's activities have allowed the Department to join the network of the World Rehabilitation Alliance of the World Health Organization, which is currently the only Italian entity present in this context.