Longitudinal red streaks on the big toenails in a patient with pseudobulbar syndrome.
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Aged↗
Biomedical subjects
R Ferri
Publications and source records attributed to R Ferri.
Chromosome abnormalities and epilepsy.
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Angelman Syndrome↗
Somatosensory evoked potentials in patients affected by unilateral cerebrovascular lesions with onset during the perinatal period or adulthood.
Unilateral cerebrovascular lesions occurring during adulthood have been reported to be accompanied by high-amplitude somatosensory evoked potentials over the nonaffected hemisphere; however, the mechanisms by which somatosensory evoked potential amplitude increases over the nonaffected hemisphere are still unclear. To investigate the eventual presence of similar amplitude abnormalities in children, we recorded somatosensory evoked potentials in three groups of patients: one with unilateral cerebrovascular lesions that occurred during the perinatal period and another two with unilateral cerebrovascular lesions occurring during late adulthood or old age. Group 1 was comprised of 12 children and young adults (age range 2 3/12-31 years, 6 males and 6 females) who suffered from unilateral cerebrovascular lesion with perinatal onset. Four control groups were arranged with age matched to that of the patients. Adult patients were subdivided into two subgroups (group 2: n = 10, all males; group 3: n = 18, 12 males and 6 females) on the basis of the presence or absence of sensory impairment over the hemiplegic side. In group 1, the four youngest subjects, aged less than 6 years, were found to show somatosensory evoked potentials of abnormally high amplitude over the nonaffected hemisphere, with a "giant" main negative wave at around 45 ms (range 38.7-49.2), strictly localized over the central areas contralateral to the lesion; in normal controls, there was no such wave. All patients in group 2 were found to be affected by large infarctions in the territory of the middle cerebral artery, whereas patients in group 3 presented with subcortical lesions of the internal capsule isolated or in association with an involvement of the frontal and/or temporal cortex. Regarding somatosensory evoked potential parameters measured over the nonaffected hemisphere in adult/elderly subjects, a significant difference was observed for N20 and P22 latency, which was longer in both groups of patients than in controls. There is a significant difference in the neurophysiologic consequences of unilateral cerebrovascular lesion, as well as over the nonaffected hemisphere, if it occurs during early infancy or during adulthood. Our findings show a new type of "giant" somatosensory evoked potentials in some children affected by unilateral cerebrovascular lesion with perinatal onset.
Adolescent↗
Eyelid myoclonia with absences in three subjects with mental retardation.
Eyelid myoclonia with absences is a rare epileptic syndrome, characterized by eyelid myoclonia, absences, and photosensitivity. On the basis of its clinical and EEG features, this syndrome has been classified as a specific new entity among the idiopathic generalized epilepsies. We report three subjects, aged 4, 16, and 31 years, respectively, with eyelid myoclonia, and absences, mental retardation and other abnormalities of the central nervous system. Our findings suggest that, at least in some cases, eyelid myoclonia and absences can represent a peculiar phenomenon of symptomatic epilepsies.
Adolescent↗
Sleep in subjects with autistic disorder: a neurophysiological and psychological study.
Polysomnography (EOG, EEG, EMG) was carried out in 17 male children and adolescents with autistic disorder, in seven patients with mental retardation and fragile X syndrome, and in five age- and sex-matched normal male subjects. Density of rapid eye movements was not significantly different in the three groups of subjects; however, some sleep parameters such as time in bed, sleep period time, and total sleep time were significantly lower in subjects with autistic disorder than in normal controls; moreover, patients with autistic disorder showed values of sleep period time, first REM latency and percent (%) sleep stage 1 lower than those of patients with fragile X syndrome with mental retardation. Density of muscle twitches was significantly higher in patients with autistic disorder than in normal controls. In contrast only minor differences were observed between patients with autistic disorder and those with fragile X syndrome with mental retardation. Furthermore, some psychoeducational profile-revised items such as perception and eye-hand coordination, showed significant correlation with some sleep parameters (time in bed, sleep latency, stage shifts, first REM latency and wakefulness after sleep onset). Childhood Autism Rating Scale (CARS) scores to visual response and non-verbal communication showed significant correlation with some tonic sleep parameters, such as sleep period time, wakefulness after sleep onset, and total sleep time. Relating to people and activity level items were found to be significantly correlated with rapid eye movement density. Our results suggest the existence of a sleep pattern in autistic patients different from that observed in subjects with mental retardation and from that of normal controls. In addition, these findings indicate that sleep parameters in these patients are correlated with some psychological indices generally used for the diagnosis of autistic disorder; for this reason, polysomnographies might be useful in the comprehension of the neurophysiological mechanisms underlying this condition.
Adolescent↗
The time course of high-frequency bands (15-45 Hz) in all-night spectral analysis of sleep EEG.
OBJECTIVE: The EEG spectral content of all-night sleep recordings obtained in 7 healthy young subjects, aged 18-20 years, including frequencies up to 45 Hz, was studied in order to detect eventual changes in the high-frequency range similar to those reported by magnetic field recording during REM sleep at 40 Hz. METHODS: For this purpose, power spectra were calculated with a fast Fourier transform and the power of the bands ranging 0.75-4.50 Hz (Delta), 4.75-7.75 (Theta), 8.00-12.25 (Alpha), 12.50-15.00 (Sigma), 15.25-24.75 (Beta), 25.00-34.75 (Gamma1), and 35.00-44.75 (Gamma 2) was calculated for-the whole period of analysis (7 h). Also two additional time series: the ratio between Beta and Gamma2, and between Gamma1 and Gamma2 were calculated (Beta and Gamma ratios). RESULTS: Beta and Gamma1 showed small changes with a tendency to increase during REM sleep; Gamma2, on the contrary, showed small changes with a tendency to decrease during REM sleep. Beta and Gamma ratio peaks were clearly correlated with the occurrence of REM sleep. The small changes shown by Beta, Gamma1 and Gamma2 were not statistically significant; on the contrary, Beta ratio and Gamma ratio showed the most important statistical significance values being highest during REM sleep and lowest during slow-wave sleep. Finally, the calculation of the linear correlation coefficient and of the cross-correlation between the different bands showed a clear reciprocity between Delta and Beta and Gamma ratios. CONCLUSIONS: Our study shows a new method for the analysis of high frequencies (up to 45 Hz) in the scalp-recorded sleep EEG which allowed us to better define, as compared to previous studies on the same topic, the changes in power characteristically associated with REM sleep and correlated with the REM/non-REM ultradian rhythm, and to propose it as a tool for future studies.
Activity Cycles↗
Does a peculiar EEG pattern exist also for FRAXE mental retardation?
OBJECTIVE: FRAXE mental retardation, a recently identified rare genetic condition, is due to a mutation of the FMR2 gene, located at Xq28 region. The phenotype is non-specific and characterized by developmental delay, speech, reading and writing problems, poor adaptive skills, anxiety, aggressiveness, obsessive-compulsive disturbance, and hyperactivity. The objective of this study was to describe the characteristic EEG pattern found in one patient with FRAXE mental retardation. METHODS: EEG (with photic stimulation and hand/foot tapping) and median nerve somatosensory evoked potentials were recorded in a 8-year-old male patient with FRAXE mental retardation (diagnosis confirmed by molecular genetic analysis) and speech disturbances. RESULTS: The patient never presented seizures; however, sleep enhanced multifocal spikes were found in the EEG. Moreover, tactile stimulation of hands and feet, as well as intermittent photic stimulation, provoked the appearance of spikes. Somatosensory evoked potentials from the median nerves showed a 'giant' component at around 60 ms. CONCLUSIONS: Considering the rarity of both FRAXE mental retardation and tactile evoked spikes, their association in the same subject might be considered as not casual. If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation.
Brain↗
Age-related changes of cortical excitability in subjects with sleep-enhanced centrotemporal spikes: a somatosensory evoked potential study.
Middle-latency somatosensory evoked potentials (SEPs) of particularly large amplitude (giant) have been reported in subjects with benign childhood epilepsy with centrotemporal spikes (BECT) and in normal children, which usually show significant age-related changes. However, the mechanisms by which age modifies the appearance of centrotemporal spikes and giant SEPs in these children, are not known. The characteristics of SEPs were studied in a group of 18 subjects (10 males and 8 females, aged 7.1-17.2 years) with sleep-enhanced centrotemporal spikes, with or without BECT and the results were compared with those obtained from a group of age-matched normal controls. Giant SEPs were recorded in 6 subjects and, in 3 of these, EEG spikes evoked by hand tapping were obtained also. No subjects with giant SEPs were found in subjects older than 12 years, and an age-related decrease in amplitude of giant SEPs as this age approached was observed. Moreover, at repeated SEP recordings, a clear trend towards a more important reduction in amplitude of giant SEPs over the temporal and parietal than over the central regions was evident. The study of EEG spikes evoked by hand tapping showed a striking similarity between the averaged evoked spikes and the main negative component of giant SEPs. It was also possible to observe that the spike negative peak recorded over the central areas always preceded the same component recorded over the parietal and temporal areas by 5-15 ms. Our study seems to support the idea that giant SEPs in subjects with centrotemporal spikes are generated by a complex mechanism different from that at the basis of the normal N60 component of SEPs; they also show peculiar age-related modifications which can be interpreted in terms of maturational changes of brain excitability/inhibition and probably constitute a tool for monitoring the clinical course of BECT, when present.
Adolescent↗
Cyclic alternating pattern and spectral analysis of heart rate variability during normal sleep.
The natural arousal rhythm of non-rapid eye movement (NREM) sleep is known as the cyclic alternating pattern (CAP), which consists of arousal-related phasic events (Phase A) that periodically interrupt the tonic theta/delta activities of NREM sleep (Phase B). The complementary condition, i.e. non-CAP (NCAP), consists of a rhythmic electroencephalogram background with few, randomly distributed arousal-related phasic events. Recently, some relation between CAP and autonomic function has been preliminarily reported during sleep in young adults by means of spectral analysis of heart rate variability (HRV). The present study was aimed at analysing the effects of CAP on HRV in a group of normal children and adolescents. Six normal children and adolescents (age range 10.0-17.5 y) were included in this study. All-night polygraphic recordings were performed after adaptation to the sleep laboratory. Six 5-min epochs were selected from sleep Stage 2 and six from Stages 3 and 4 (slow-wave sleep), both in CAP and NCAP conditions. From such epochs, a series of parameters describing HRV was then calculated, in both time and frequency domains, on the electrocardiographic R-R intervals. Statistical comparison between CAP and NCAP epochs revealed a significant difference for most of the frequency domain parameters (increase of the low-frequency band, increase of the low-frequency/high-frequency ratio and decrease in the high-frequency band during CAP) both in Stage 2 and in slow-wave sleep. Our results demonstrate that the physiological fluctuations of arousal during sleep described as CAP are accompanied by subtle, but significant, changes in balance between the sympathetic and vagal components of the autonomic system.
Adolescent↗
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.
PURPOSE: To evaluate their susceptibility to audiogenic seizures, five groups of knockout mice with various forms of fragile X genetic involvement [hemizygous males (n = 46), and homozygous (n = 38) and heterozygous females (n = 45), and their normal male (n = 45) and female (n = 52) littermates] were studied. METHODS: All mouse groups were tested at ages 17, 22, 35, and 45 days. Audiogenic seizure susceptibility was scored, and the analysis of variance was used for the evaluation of the effects of age and genetic condition on seizure severity score (SSS). RESULTS: All groups of knockout fragile X mice exhibited SSSs significantly higher than those observed in their wild-type littermates; among knockout mice, hemizygous males and homozygous females showed the highest SSSs. Hemizygous males showed higher SSSs with increasing age, from 17 to 45 days; homozygous females showed a peak at age 22 days, followed by a decrease; finally, heterozygous females had their highest SSSs at age 17 days. CONCLUSIONS: This study demonstrates that an increased susceptibility to audiogenic seizures is present in fragile X knockout mice at all the ages tested. These results support the validity of this animal model also for epilepsy and seizures in the human fragile X syndrome.
Acoustic Stimulation↗
Clinical correlates of brain morphometric features of subjects with low-functioning autistic disorder.
Numerous neuropathologic and imaging studies have reported different structural abnormalities in the brains of autistic subjects. However, whether or not the degree of brain abnormality is correlated with the severity of developmental impairment in autistic disorder is still unknown. The midsagittal area of the cerebrum, corpus callosum, midbrain, cerebellar vermis, and vermal lobules VI and VII was measured by means of magnetic resonance imaging in 22 boys with low-functioning autistic disorder and in 11 age-matched normal controls. Morphometric measures were statistically compared between groups and correlated with age and scores on the Psychoeducational Profile-Revised and the Childhood Autism Rating Scale. A significant negative correlation was found between midsagittal area of the cerebrum and age in patients with autistic disorder, and a positive correlation was found between the midsagittal area of the midbrain and some subscales of the Psychoeducational Profile-Revised.
Adolescent↗
Heart rate variability and autonomic function during sleep in fragile X syndrome.
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Adolescent↗
Alterations of nasal mucociliary transport in patients with hypertrophy of the inferior turbinates, deviations of the nasal septum and chronic sinusitis.
Mucociliary transport (MCT) represents the first barrier of the nasal fossae and paranasal sinuses against various biological and physical insults. We studied the nasal MCT time using a mixture of vegetable charcoal powder and 3% saccharin in three groups of patients suffering from hypertrophy of the inferior turbinates, deviations of the nasal septum or chronic sinusitis. The mean values of the nasal MCT in the first two groups were practically identical to the normal ones. In contrast, significantly delayed times were found in patients with chronic sinusitis (P < 0.01). Findings indicate that this delay is determined by an increase in viscoelasticity of the mucus following the acute release of mediators of inflammation, together with a reduction in the periciliary stratum, which slows down the metachronous wave of the MCT.
Adolescent↗
Correlation dimension of EEG slow-wave activity during sleep in narcoleptic patients under bed rest conditions.
The calculation of the correlation dimension (D2) was applied to the study of the profiles of EEG slow-wave activity in nine narcoleptic subjects and nine sex- and age-matched control subjects who, following a baseline night recording, were maintained on 16 h of diurnal sleep deprivation and, thereafter, submitted to a 32-h bed rest protocol. The reversibility test allowed us to reject the null hypothesis that the time series considered in our study were generated by a static transformation of a linear Gaussian random process. Similarly, all profiles showed a positive largest Lyapunov exponent. Finally, the computation of D2 showed an average value of 5.27 (0.68 S.D.) in normal controls and 4.05 (1.49 S.D.) in narcoleptic patients (p = 0.067). Four of the narcoleptic patients showed values of D2 lower than 4, this was never observed in the normal controls (p = 0.0294). This study indicates that the mechanism of sleep-wake regulation in narcolepsy shows a somewhat lower degree of complexity as compared to normal controls. In particular, these data seem to confirm the already suggested different and simpler coupling between the homeostatic process of sleep regulation and the circadian and ultradian drives to sleep that occurs in bed rest condition in this disease.
Adult↗
Skin pathology findings in a cohort of 1500 adult and elderly subjects.
BACKGROUND: No extensive studies are available in the literature on the eventual skin pathology induced by neurologic or systemic diseases in elderly individuals. Other factors, such as health and hygiene, socioeconomic status, and climate can also play an important role. METHODS: Fifteen-hundred subjects (886 women and 614 men; mean age, 67.8 years; range, 39-90 years) were admitted to the Department of Geriatrics at the Oasi Institute between 1992 and 1997; all these subjects were carefully evaluated from a dermatologic point of view. Each subject underwent specialist examinations, routine blood analyses, thoracic X-rays, cerebral computerized tomography (CT) scan, and magnetic resonance imaging (MRI) when appropriate. A group of subjects without significant neurologic or systemic disease, comprising 116 women and 60 men (mean age, 64.5 years; range, range, 40-90 years), was selected and used as a normal control group. Subsequently, our attention was focused on the eventual presence of the following neurologic diseases: Alzheimer-type dementia, vascular dementia, mixed-type dementia, subcortical dementia, Parkinson's disease, vascular brain disease, hemiplegia, etc. Thus, different subgroups were formed on the basis of such diagnostic categories and the frequency of skin pathology in each subgroup was evaluated. RESULTS: Of the 1500 subjects, 1439 stated that they had never been affected by dermatologic disease. No statistically significant difference in frequency of skin pathology was found between normal controls and the different patient subgroups. Unsuspected and singular dermatoses were found, however, such as paraneoplastic syndromes, idiopathic tripe palms, white fibrous papulosis of the neck as an expression of photoaging, conditions induced by former popular traditions of Sicilian culture (anetoderma secondary to the application of Hirudo medicinalis and erythema ab igne), pigmented dermatoses never described before in Italy (prurigo pigmentosa and friction amyloidosis), and nail abnormalities (atypical half-and-half nail, and dyschromic nail changes in multiple system atrophy and in hemiplegia). CONCLUSIONS: The dermatologic screening performed in 1500 patients revealed several unexpected diagnoses and some original observations. Some rare dermatoses were described and certain hypotheses were suggested to explain the peculiar dyschromic changes of the fingernails in multiple system atrophy, the atypical cases of half-and-half nail, and the so-called idiopathic tripe palms associated with psoriasis.
Adult↗
Epilepsy and EEG findings in males with fragile X syndrome.
PURPOSE AND METHODS: One hundred and ninety-two fragile X male patients were investigated for seizures and EEG findings, 168 in a retrospective and 24 in another prospective study, to characterize the natural history of seizures, epilepsy, and EEG abnormalities in males with this syndrome. RESULTS: Seizures were documented in 35 (18.2%) of 192 patients; they never started before the age of 2 years or after the age of 9 years. Seizures were frequently of the complex partial type and less frequently of the partial motor and generalized type. Seizures involving frontal and temporal lobes were commonly seen and were usually well controlled by anticonvulsants. In the majority of young fragile X patients studied, an age-related paroxysmal EEG pattern was found, which showed neurophysiologic characteristics very similar to those of the centrotemporal spikes. CONCLUSIONS: These findings confirm that fragile X syndrome can be considered a genetic model of epilepsy.
Adolescent↗
Seizures in Chiari I malformation: a clinical and electroencephalographic study.
Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 +/- 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most of the seizures were of the complex partial type, and paroxysmal abnormalities were mainly localized over the frontal and temporal regions. The course of the epilepsy was rather benign, with complete control of seizures in four patients and an important reduction in frequency in the remaining three subjects. Other cortical alterations are not usually associated with the typical abnormalities of the posterior fossa in Chiari I malformation; thus, it is possible to hypothesize that cerebral microdysgenesis or, alternatively, a cerebellar dysfunction could underlie epileptogenesis in these patients.
Adolescent↗
Giant somatosensory evoked potentials in different clinical conditions: scalp topography and dipole source analysis.
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Adolescent↗