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Biomedical subjects

S A Musumeci

Publications and source records attributed to S A Musumeci.

At least 37 records · Page 2Linked to original sources
PubMed1999

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↗
PubMed1999

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↗
PubMed1998

Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity?

OBJECTIVE: To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance of the disease. DESIGN: Clinical, laboratory, neurophysiological, and neuroimaging data were studied. SETTING: Institute for research on mental retardation. PATIENTS: Two siblings (aged 25 and 28 years) and their 49-year-old mother had postural and action tremor, seizures, and mental retardation. Only tremor was present in the maternal grandmother (aged 68 years). The electroencephalogram showed diffuse spike-and-wave complexes and/or posterior spikes, and a photoparoxysmal response in the 4 subjects. The typical electrophysiologic features of cortical reflex myoclonus, such as giant somatosensory evoked potentials, enhancement of the C-reflex, and jerk-locked premyoclonus spikes, were found in all patients. CONCLUSION: This syndrome may represent a specific form of familial cortical tremor with a benign form of epilepsy and a new genetic model of cortical hyperexcitability inherited with an autosomal dominant mechanism.

Adult↗
PubMed1998

Correlation dimension of EEG slow-wave activity during sleep in children and young adults.

In a recent work, the calculation of the correlation dimension (CD) of the profiles of EEG slow-wave activity during sleep in 7 young subjects, allowed us to conclude that sleep-regulation might be considered a deterministic non-linear process with an average dimension above 3. In this paper we report the results of the calculation of the CD of EEG slow-wave activity in 20 normal subjects (children and young adults) who slept in the laboratory for 3 consecutive nights. The results confirm that it is possible to calculate the CD in most normal profiles (33 out of 40) and to discriminate between chaos and noise. The lower limit of CD was found as ranging between approximately 2.5 and 4.5, it did not show significant changes across consecutive nights in the same subject and did not seem to change significantly with age in children and young adults.

Adolescent↗
PubMed1998

Trisomy 12p and epilepsy with myoclonic absences.

We report the case of a 6-year-2-month-old female affected by trisomy 12p syndrome. Seizures were typical myoclonic absences from both the clinical and EEG points of view. Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy.

Brain↗
PubMed1998

Heart rate variability and apnea during sleep in Down's syndrome.

Autonomic system dysfunction has been reported to occur frequently in patients with Down's syndrome (DS) and is constituted mainly by an imbalance between the sympathetic and vagal systems. The analysis of heart rate variability (HRV) during sleep is a quantitative reliable method for studying such a mechanism, but it has not yet been extensively and adequately applied in DS. In this study, HRV during sleep was evaluated in seven DS patients and in six normal controls, by also controlling for the presence of sleep apnea or arousal. The main results were an increased sympathetic function (low-frequency component of HRV) and a decreased vagal activity (high-frequency component of HRV) in DS with respect to normal controls, during apnea-free periods. Moreover, the presence of apnea, in DS, induced a further significant increase in low-frequency and very low-frequency components of HRV during sleep Stage 2. This study provides additional evidence of a brainstem dysfunctioning in DS, responsible for the abnormal imbalance between the sympathetic and vagal systems and confirms the brainstem involvement already suggested in the literature in order to explain brainstem-auditory evoked potential abnormalities and central sleep apnea in these patients.

Adolescent↗
PubMed1998

Myoclonic absence-like seizures and chromosome abnormality syndromes.

PURPOSE: We explored the relationship between myoclonic absence seizures (MAS) and underlying chromosome disorders. METHODS: Among 14 patients with MAS observed in three centers, 5 had typical cryptogenic myoclonic absence epilepsy (MAE), 2 had MAS associated with other seizure types (1 with signs of a neuronal migration abnormality and 1 with signs of a metabolic disorder), and 7 had MAS, with or without other seizure types, complicating a chromosome abnormality syndrome-2 with trisomy 12p, 4 with Angelman syndrome, and 1 with inv dup (15). RESULTS: In the 7 patients with chromosomopathy, MAS appeared at a mean age of 2.9 years (range 4 months to 6 years 6 months), had a duration of 4-20 s, and were accompanied by reduced awareness and rhythmic myoclonic jerks involving proximal limb muscles. Ictal EEG showed 2- to 3-Hz generalized spike-and-wave discharges. CONCLUSIONS: In these patients, MAS differed slightly from those of typical MAE: age of onset was earlier, absences were of shorter duration, and no clear increase in muscular tone was noted. Abnormal expression of genes codifying for the subfamily of K+ channels and for gamma-aminobutyric acid-3 subunit receptors (GABRB3), both located in the chromosome segments involved in the chromosomopathies presented by our patients, could be responsible for the same generalized seizure type. Chromosome analysis should be performed in patients with mental retardation and MAS, especially when the ictal pattern does not completely overlap that observed in MAE.

Adult↗
PubMed1997

A new family with periventricular nodular heterotopia and peculiar dysmorphic features. A probable X-linked dominant trait.

OBJECTIVE: To describe 3 sisters with brain periventricular heterotopia and peculiar dysmorphic features as a probable X-linked dominant trait. DESIGN: Clinical, laboratory, neurophysiological, and brain imaging data were studied. SETTING: Research institute for mental retardation. PATIENTS: The 3 sisters had mental retardation, drug-resistant epilepsy, gray matter heterotopia, and peculiar malformations (low nasal bridge, upslanting palpebral fissures, palpebral edema, attached hypoplastic earlobes, thickened calvaria, rectal fibrovascular polyps, urinary tract anomalies, and increased foot length). The patients were 35, 30, and 25 years old and belonged to a sibship of 6, born of nonconsanguineous healthy parents. CONCLUSION: The 3 patients constitute a well-defined clinical entity not previously described of a probable X-linked dominant nature.

Adult↗
PubMed1997

Respiratory patterns during sleep in Down's syndrome:importance of central apnoeas.

Obstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.6-32.2 y, without relevant upper airway pathology. In order to control the possible effects of sleep structure and mental retardation on the results obtained, we compared the findings in DS with those obtained from a group formed by subjects affected by fragile X syndrome (six males and one female, aged 10.0-15.42 y) another genetically determined type of mental retardation. Sleep structure was similar in both groups; however, DS subjects showed significantly higher indices of central sleep apnoea and of oxygen desaturation than fragile X patients (P < 0.005). As far as DS individuals were considered, a significant preponderance of central, as opposed to obstructive, sleep apnoeas was found (89.4% vs. 9.4%, respectively; 1.2% were mixed) which showed a significant age-related increase. Central respiratory pauses were mostly preceded by sighs, which occurred more frequently during sleep stages 1 and REM, and were often organized in long sequences of periodic-like breathing. During REM sleep, they were less frequently preceded by sighs and by body movements than during NREM sleep. Obstructive sleep apnoeas occurred more often during REM sleep and were more rarely preceded by sighs or by body movements. Both central and obstructive apnoeas induced significant oxygen desaturation in 50-69.6%. Sleep structure was not significantly modified by apnoeas and oxygen desaturation. We hypothesize that the increase in central sleep apnoeas is related to a dysfunction of the central respiratory control at a brainstem level in DS.

Adolescent↗
PubMed1996

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.

Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.

Acrocephalosyndactylia↗
PubMed1996

Chaotic behavior of EEG slow-wave activity during sleep.

The study of the dynamics of non-linear systems allows the evaluation of the correlation dimension which, in turn, provides an estimate of the number of variables needed to model the process. In such a view, the correlation dimension was calculated for the profiles of the EEG slow-wave activity during sleep obtained from 7 young normal controls and in their corresponding artificial stochastic signals. It was possible to evaluate the complexity of all the real profiles which exhibited an average dimension of 3.76 (SD 0.331), but not that of the artificial control ones. This allows us to conclude that sleep regulation might be considered as a deterministic non-linear process and that the already proposed two-process model of sleep regulation needs to include additional variables with non-linear interactions.

Adolescent↗
PubMed1996

Scalp topographic mapping of middle-latency somatosensory evoked potentials in normal aging and dementia.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded in four groups of subjects: 13 normal young controls (mean age, 17.9 years). 11 normal elderly (mean age, 66.9 years), 11 patients with dementia of Alzheimer's type (DAT: mean age, 70.5), and four with vascular dementia (mean age, 79.3). MLSEPs in normal elderly showed an increase in the latency of P22, N30, P45, N60, and P100, and in the amplitude of N60. DAT patients also presented such changes; however, the increase in the amplitude of N60 was much more evident than that found in normal aging and was accompanied by a significant increase in amplitude of P45. Patients with vascular dementia tended to show longer latencies and larger amplitudes than the other groups. The increase in amplitude of P45 and N60 in MLSEPs seems to be characteristically associated with normal aging and the development of dementia. It is suggested that the mechanism of such functional changes might be correlated with the structural and neurochemical changes accompanying neuronal loss in these conditions.

Adolescent↗
PubMed1996

Age-and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded from 19 scalp electrodes in 34 patients with Down's syndrome (DS) aged 7.4 to 35.7 years and in 16 normal control subjects aged 6.4 to 34.4 years. DS patients showed an increase in amplitude of P22, P45, and N60. P100 latency was significantly shortened. After normalization for height of subjects, N20 and N60 latencies were significantly longer in the patient group than in control subjects. On the other hand, it was possible to observe in both groups a significant trend for MLSEP amplitudes to decrease with age during the age period considered in this work. This study further confirms that the pattern of increase in amplitude of MLSEP components observed in DS is a finding peculiar of this syndrome and is not correlated with early aging processes.

Adolescent↗