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In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 subjects belonging to 13 families (with at least two members with febrile convulsions). Our results seem to suggest that affected siblings have... more
In this study we evaluated serum IgA, IgG, IgM levels and IgG subclass concentrations from 57 subjects belonging to 13 families (with at least two members with febrile convulsions). Our results seem to suggest that affected siblings have lower IgG2 levels as compared to their relatives and to controls, while normal values were found in parents with a history of FC
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Research Interests: Psychology and Medicine
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected... more
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients; however, the problem remains under-recognized and under-treated. We conducted an Italian consensus through a modified Delphi survey to discuss the current treatment paradigm of drooling in pediatric patients with neurological disorders. Methods After reviewing the literature, a board of 10 experts defined some statements to be administered to a multidisciplinary panel through an online encrypted platform. The answers to the questions were based on a 1–5 Likert scale (1 = strongly disagree; 5 = strongly agree). The scores were grouped into 1–2 (disagreement) and 4–5 (agreement), while 3 was discarded. The consensus was reached when the sum of the disagreement or agreement was ≥75%. Results Fifteen statements covered three main topics, namel...
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The importance of physical activity in the management of diabetes is well established. The effect of programmed exercise and measurable skeletal activities on diabetes has been variously studied. Chorea induces an increase in spontaneous... more
The importance of physical activity in the management of diabetes is well established. The effect of programmed exercise and measurable skeletal activities on diabetes has been variously studied. Chorea induces an increase in spontaneous movement. Its occurrence in a teenager with type 1 diabetes provides new insights into our knowledge of metabolic outcomes. In our patient, the reduction in daily insulin demand was linked to choreic movement: a 67% decrease in insulin supply was needed to avoid episodes of hypoglycaemia; moreover, improved metabolism (measured as glycated haemoglobin) was obtained. Since no dietary changes were made and clinical events (including fever, drugs, weight loss, voluntary physical activity, psychological opposition or refusal of treatment) interfering with metabolic control of diabetes occurred, it appeared that only increased physical movements due to chorea reduced the patient's insulin requirement. As spontaneous movements declined with healing, m...
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Abstract: Background: The influence of physiological and methodological factors on recordings of brainstem auditory evoked potentials (BAEPs) is greater in children than in adults. Objective: To collect and evaluate BAEP data in normal... more
Abstract: Background: The influence of physiological and methodological factors on recordings of brainstem auditory evoked potentials (BAEPs) is greater in children than in adults. Objective: To collect and evaluate BAEP data in normal children, and measure intra- and inter-laboratory variability. Methods: Seven hundred and fifty unselected BAEP recordings were collected and evaluated from children ranging from neonates to 14-year-olds by eight laboratories in Italy. Results: In newborns, three laboratories showed satisfactory concordance; wave I was more broadly distributed than wave V and IPL I-V. The evaluation of pooled BAEP data from the older children showed that laboratories with age-matched data gave overlapping results; those with unmatched-age data differed significantly. The sound intensities of the laboratories did not significantly affect absolute BAEP latencies or IPLs. Females had shorter latencies than males; the difference was not significant. A single exponential r...
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Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental... more
Asparagine synthetase (ASNS) deficiency is a rare inborn error of metabolism caused by a defect in ASNS—a gene encoding asparagine synthetase. It has mainly been described as a neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity, and refractory seizures; it is not associated with any specific dysmorphisms. ASNS deficiency leads to the inability to synthesize a nonessential amino acid in the brain, this explains why the symptoms are primarily neurological. The accumulation of aspartate/glutamate causes increased neuronal apoptosis leading to brain atrophy and increased neuronal excitability leading to seizures. Asparagine levels in plasma and cerebrospinal fluid are not reliable biomarkers for this disorder, therefore diagnosis is mainly obtained by molecular genetics. This disorder is associated with a poor prognosis and there is no treatment except supportive therapy. Prenatal diagnosis is possible. We report a case of a later onset...
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A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia with light-brown, opaque, fragile, thick, kinky hair. He also showed pale and elastic skin with redundant nuchal skin, pudgy cheeks,... more
A 7-month-old male Caucasian infant was presented for evaluation of congenital hair dysplasia with light-brown, opaque, fragile, thick, kinky hair. He also showed pale and elastic skin with redundant nuchal skin, pudgy cheeks, craniofacial abnormalities, and severe psychomotor impairment (Figure 1). At 10 days of life, he was hospitalized due to poor weight gain and hyporeactivity. One month later, he developed anemia (Hb 6.4 g/dL), a urinary tract infection, and gastroesophageal reflux. From the age of four months, he started having focal seizures with intermittent eye deviation, hand and finger myoclonus, as well as hypertonia and dyskinesia of the shoulder girdle; EEG showed a left temporal-occipital focus.
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ABSTRACT
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Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicated in the outcome but, little is known about this issue in the subgroup of seizures symptomatic of perinatal arterial ischemic stroke. The... more
Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicated in the outcome but, little is known about this issue in the subgroup of seizures symptomatic of perinatal arterial ischemic stroke. The aim of this study was to describe the long term risk of epilepsy after electroencephalographic confirmed neonatal seizures symptomatic of perinatal arterial ischemic stroke. Fifty-five patients with electroclinical ictal data, vascular territory confirmed by neuroimaging and a minimum follow up of 3.5years were identified from a multi-centre prospective neonatal seizures registry. Primary outcome was occurrence of post-neonatal epilepsy. The association of outcome with family history of epilepsy, gender, location of the infarct, neonatal clinical and electroencephalogram data were also studied. During a mean follow up of 8years and 5months, 16.4% of the patients developed post neonatal epilepsy. The mean age at first post neonatal seizure was 4years and 2months (range 1-10years and 6months). Location of the infarct was the only statistically significant risk factor (p=0.001); epilepsy was more represented in males but the difference was not statistically significant. Neonatal seizures symptomatic of perinatal arterial ischemic stroke had lower risk and later onset of post-neonatal epilepsy, compared to seizures described in the setting of other perinatal brain insults. Our data have implications for counseling to the family at discharge from neonatal intensive care unit.
Research Interests: Epilepsy, Risk, Electroencephalography, Brain development, Brain, and 15 moreHumans, Child, Female, Male, Infant, Brain Ischemia, Registries, Retrospective Studies, Prognosis, Disease Progression, Seizures, Age of Onset, Child preschool, Psychology and Cognitive Sciences, and Medical and Health Sciences
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Non-epileptic attacks (NEAs) are a heterogeneous group of clinical entities which often complicate the differential diagnosis of epilepsy. NEAs usually have a benign course and are limited to a specific period of life. If motor... more
Non-epileptic attacks (NEAs) are a heterogeneous group of clinical entities which often complicate the differential diagnosis of epilepsy. NEAs usually have a benign course and are limited to a specific period of life. If motor manifestations are strongly suggestive of an epileptic phenomenon, the risk of misdiagnosis is greater. Here, we describe a novel NEA with infantile onset, characterised by repeated head drops, mimicking epileptic negative myoclonus of the neck. The frequency of the episodes was very high, at hundreds or thousands per day. The episodes appeared in the second semester of the first year of life and spontaneously disappeared within a few months. [Published with video sequences].
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In infancy, the autosomal dominant inherited ataxias are severe neurological diseases, due to inherited mutations of ion channels. The main forms are: episodic ataxia type 1 (EA1), episodic ataxia type 2 (EA2), spinocerebellar ataxia type... more
In infancy, the autosomal dominant inherited ataxias are severe neurological diseases, due to inherited mutations of ion channels. The main forms are: episodic ataxia type 1 (EA1), episodic ataxia type 2 (EA2), spinocerebellar ataxia type 6 (SCA6). EA1 is due to a mutation in KCNA1, the gene encoding human Kv1.1 on chromosome 12p13, which contributes as a subunit to the formation of potassium channels in motor nerve terminals and in many central nervous system neurones. To date, there are fifteen different mutations, which affect potassium channel's properties and lead to phenotypic variability and to different responses to therapy. EA2 can result from mutations in the CACNA1A gene, encoding calcium channels on chromosome 19p13.1 and widely distributed throughout the central nervous system. To date, associated with EA2, in the CACNA1A gene thirty different mutations have been described, resulting in altered or truncated protein products and, as a consequence, in nonfunctional ca...
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The IgG subclasses were investigated in children with febrile convulsions (FC) and in their first degree relatives in the search for a selective immunological deficiency associated with FC and its occurrence in the relatives of affected... more
The IgG subclasses were investigated in children with febrile convulsions (FC) and in their first degree relatives in the search for a selective immunological deficiency associated with FC and its occurrence in the relatives of affected subjects. The results of the study show lower IgG2 concentrations in FC patients than in controls. But it was not possible to demonstrate familial transmission of the IgG2 subclass deficiency, since it was present only in children with FC and tended to normalize in adulthood. The immunoglobulin subclass deficiency might be responsible for the recurrent infections connected with FC.
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Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND).... more
Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND). All Kir6.2 mutations examined decrease the ATP inhibition of KATP, which is predicted to suppress electrical activity in neurons (peripheral and central), muscle, and pancreas. Inhibitory sulfonylureas (SUs) have been used successfully to treat diabetes in patients with activating Kir6.2 mutations. There are two reports of improved neurological features in SU-treated DEND patients but no report of such improvement in adulthood. Objective: The objective of the study was to determine the molecular basis of intermediate DEND in a 27-yr-old patient with a KCNJ11 mutation (G53D) and the patient’s response to SU therapy. Design: The G53D patient was transferred from insulin to gliclazide and then to glibenclamide over a 160-d period. Motor function was ass...