A5080888573- Epilepsy research and treatment
- Child and Adolescent Psychosocial and Emotional Development
- Diet and metabolism studies
- Ion channel regulation and function
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- COVID-19 and Mental Health
- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Neurological disorders and treatments
- Maternal Mental Health During Pregnancy and Postpartum
- Genetic Neurodegenerative Diseases
- Multiple Sclerosis Research Studies
- Ocular Diseases and Behçet’s Syndrome
- Sleep and Wakefulness Research
- Glycogen Storage Diseases and Myoclonus
- Hedgehog Signaling Pathway Studies
- Treatment of Major Depression
- Protein Tyrosine Phosphatases
- Cognitive and developmental aspects of mathematical skills
- Sleep and related disorders
- Cerebral Venous Sinus Thrombosis
- Peripheral Neuropathies and Disorders
- Advances in Cucurbitaceae Research
- Suicide and Self-Harm Studies
University of Bari Aldo Moro
2001-2022
Weatherford College
2021
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or sporadic in nature. The pathophysiology underlying these remains largely unknown but may involve disrupted ion homeostasis due to defects cell-surface channels nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia echinocytosis,...
Depressive disorders (DDs) and non-suicidal self-injury (NSSI) are important juvenile mental health issues, showing alarming increasing rates. They frequently co-occur, mainly among adolescents, the suicide risk. We aimed to compare clinical features of two groups adolescents with DDs, differed by their engagement or not in NSSI ("DD + NSSI" "DD"). hypothesized that would characterize particularly severe forms DDs suitable for becoming specific phenotypes adolescent depression. enrolled 56...
Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding role cerebellum cognition behavior, opinion that clinical presentation congenital diseases is principally linked to motor dysfunction common. This largely due lack well-organized epidemiologic studies on prevalence nonmotor disturbances disease. The association between disease epilepsy has rarely...
Although schizophrenia has been diagnosed in children, this group of disorders received too little attention the clinical and research literature. Preliminary data suggest that early onset (EOS) very (VEOS) tend to have a worse outcome than adult schizophrenia, seem be related greater familial vulnerability, due genetic, psychosocial, environmental factors. Recently, advanced neuroimaging techniques revealed structural functional brain abnormalities some cerebral areas. This paper reports on...
Children and adolescents low-income individuals are considered particularly vulnerable for mental health implications during the current COVID-19 pandemic. Depression is a frequent negative emotional response an epidemic outbreak also prone importantly to environmental risk like stressors derived from income inequality. We aimed assess depressive symptomatology in sample of Italian minors outbreak. hypothesized that stronger were effects pandemic on socioeconomic conditions, higher would...
Objective: Hypohidrosis, often associated with hyperthermia, has been reported, mostly in children, as a rare and reversible adverse effect of topiramate, an anticonvulsant drug broad spectrum antiepileptic activity. The aim our study is to detect possible skin innervation involvement asthe mechanism underlying hypohidrosis children treated topiramate. Methods: A neurophysiological performed on 2 who have developed under topiramate treatment. Electrophysiologicaldata recorded during...
Abstract Only few sporadic and familial cases of paroxysmal exercise‐induced dyskinesia (PED) have been described in literature. PED associated with epilepsy has rarely reported. We describe a family which six members different generations were affected by long‐lasting PED, childhood onset five cases. Fasting stress also precipitating factors. All the subjects, moreover, showed epileptic seizures during adolescence. In addition, all condition mild mental retardation was documented, some...
Megalocornea—mental retardation syndrome, otherwise known as Neuhauser is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe clinical and instrumental follow-up, lasting 5 years, of case showing typical features associated with transient hypothyroidism, epilepsy, cerebral palsy choreoathetotic movements, brain malformation. Our report might help better delineate phenotype natural history syndrome. (J Child Neurol 2006;21:893—896; DOI 10.2310/...
Diagnosis of neurofibromatosis 1 is based on clinical criteria. In a large number children with 1, magnetic resonance imaging (MRI) reveals high-signal T 2 -weighted intensities in different brain regions, defined as unidentified bright objects. These lesions are asymptomatic; most them regress spontaneously age, but the presence contrast enhancement or mass effect usually strongly suggests an increased risk proliferative changes. To date, few studies have focused evoked potentials patients...
Pediatric optic neuritis (PON) may be a clinically isolated and self-limiting event or present in the context of underlying neurologic, infective, systemic disease. PON has high impact on quality life as it not evolve into other acquired demyelinating syndromes (ADSs), such multiple sclerosis (MS), neuromyelitis optica (NMO), related to myelin oligodendrocyte glycoprotein IgG antibodies (MOG-IgG). These different phenotypes variable clinical radiological features, plasma liquor biomarkers,...
The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deafness. Brain computer tomography magnetic resonance findings were normal. Multivoxel proton spectroscopy lowering of the peak choline reduced choline/creatine ratio at level centrum semiovale. These might be due to congenital dysmyelinating or hypomyelinating condition. A complete neuroimaging study can play relevant role better clarify pathogenesis brain involvement in syndrome.
Many studies highlighted the role of inflammation in pathogenesis depression, although not for every patient nor symptom. It is widely shared that stressors can increase and lead to depressive symptoms. Little known about symptom-specificity inflammation-depression link adolescence, which we aimed explore. The single symptom analysis a core feature recent network approach supposing psychiatric disorders consist co-occurring symptoms their tendency cause each other.We recruited 52 adolescents...
Abstract Background Children and adolescents low-income individuals are considered particularly vulnerable for mental health implications during the current COVID-19 pandemic. Depression is one of most frequent negative emotional responses an epidemic outbreak, mainly due to imposed restriction social contacts. We aimed assess depressive symptomatology in a sample Italian minors determine if pandemic-related stressors pre-existing neuropsychiatric diagnoses would behave as risk factors...