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Biomedical subjects

S A Musumeci

Publications and source records attributed to S A Musumeci.

At least 55 records · Page 3Linked to original sources
PubMed1995

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome.

Brainstem auditory evoked potentials (BAEPs) were recorded in 51 Down's syndrome (DS) subjects and compared with those of 38 normal controls; the correlations between the BAEP measures and age, sex, and degree of mental retardation were then evaluated. The DS patients showed a significant reduction in wave V latency and amplitude and in I-III, III-V, and I-V interpeak intervals. An age-related shortening of the I-V interpeak interval found in DS patients was interpreted as being a result of changes in central inhibitory/excitatory mechanisms. In both groups, female subjects presented an I-V interval shorter than that of males but this difference was greater in the DS subjects than in the normal population. The DS patients with severe mental retardation showed significantly longer I-V interpeak intervals than those with moderate retardation; this could be due to the presence of additional central nervous system abnormalities.

Adolescent↗
PubMed1995

Seizures in Klinefelter's syndrome: a clinical and EEG study of five patients.

In this study, we report the cases of five unrelated patients with Klinefelter's syndrome and seizures or EEG epileptiform abnormalities; the karyotype was 47,XXY in four, and 47,XXY/46,XX in one. They were aged 13-25 years and followed up both clinically and by means of EEG. Two of the patients had epilepsy, one had only one isolated generalized tonic-clonic seizure, one had febrile convulsions and one presented focal epileptiform EEG abnormalities without seizures. In two of the patients, it was possible to classify the epilepsy (childhood epilepsy with occipital paroxysms and cryptogenic or symptomatic generalized epilepsy). Although the electroclinical patterns appeared to be rather heterogeneous in our patients, it is possible to infer the relative good evolution of seizures in Klinefelter's syndrome.

Adolescent↗
PubMed1995

Clinical and neurophysiological aspects of epilepsy in subjects with autism and mental retardation.

Clinical and neurophysiological findings for 28 patients with mental retardation, autism, and epilepsy were described. Correct classification of seizure type and epileptic syndrome (when possible), etiology, severity of autism and epilepsy, EEG findings, and neuroimaging findings were given. No particular epileptic syndrome was found to be more frequently correlated to autism, severity of autism was not correlated with a more pronounced tendency to develop seizures, and females with autism were more frequently affected by seizures than were males. In conclusion, the risk for epilepsy does not seem to be correlated to autism itself, but the same noxious event induces autism and epilepsy. The severity of epilepsy is strictly correlated with its etiopathogenetic mechanisms.

Adolescent↗
PubMed1994

Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome.

We report the case of a 7 year old boy with fragile-X syndrome and epilepsy. In this patient, the detection of rolandic epileptiform potentials during sleep and hand tapping-evoked rolandic EEG spikes, together with giant somatosensory evoked potentials, further support the already suggested neurophysiological similarities between fragile-X syndrome and benign childhood epilepsy with centrotemporal spikes.

Child↗
PubMed1994

BIT-mapped somatosensory evoked potentials in the fragile X syndrome.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded from 19 scalp electrodes in ten male patients with the fragile X (fraX) syndrome and nine normal controls. One fraX patient was found presenting the so-called "giant" MLSEPs with an amplitude of N60 of about 60 microV and of 40 microV after stimulation of the right and left median nerves, respectively. Tapping of the right hand, in the same patient, induced the appearance of left parietal evoked EEG spikes. These findings further support the already suggested similarity between the epileptic picture of several fraX patients with that of the benign childhood epilepsy with centrotemporal spikes. Color mapping of the MLSEPs recorded in the remaining nine patients, when compared with the control group, showed an abnormally large N30 over the frontal regions, together with an increase in amplitude of P27, over the parietal areas, and of N60 and P100 which also presented abnormal field distributions, being represented preferentially over the frontal regions. These data could suggest the existence of a cortical dysfunction mostly involving the frontal lobes (supplementary motor area, in particular) in the fraX syndrome which could support many behavioral changes usually observed in these patients.

Adolescent↗
PubMed1994

Bit-mapped somatosensory evoked potentials in Down's syndrome individuals.

Middle-latency somatosensory evoked potentials (MLSEPs) were recorded from 19 scalp electrodes in 19 patients with Down's syndrome (DS), in 13 age-matched normal controls and in 11 aged normal individuals. DS patients showed an increase in amplitude of P22, N30, P45, and N60. P100 latency was significantly shortened. After this potential, DS subjects showed the occurrence of a high voltage negative potential at around 100-110 msec followed by another high-voltage positive deflection; both these components showed a frontal-central distribution and were not observed in the two control groups. MLSEPs of DS subjects show peculiar alterations which could be supported by particular neurometabolic and/or neuropathologic changes.

Adolescent↗
PubMed1994

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient.

EEG during wakefulness and sleep and somatosensory evoked potentials from the median nerve were recorded in a 3 year-old boy with hyperekplexia and his close relatives (parents and two sisters). Centro-temporal spikes during sleep were found in the patient and in the older sister, while somatosensory evoked potentials, in the patient, showed abnormally high amplitude over the centroparietal regions. Pathophysiological mechanisms of hyperekplexia are discussed and the existence of symptomatic forms is suggested.

Child↗
PubMed1993

Brainstem auditory evoked potentials in tuberous sclerosis.

Brainstem auditory evoked potentials were recorded in 4 subjects and pattern reversal evoked potentials in 1 subject, all with tuberous sclerosis. Alterations were found (absence or delay of components and prolonged interpeak intervals) which may suggest impaired nervous conduction also at brainstem level in patients with tuberous sclerosis.

Adolescent↗
PubMed1992

Tuberous sclerosis and Down syndrome: a casual association?

This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.

Adult↗
PubMed1991

Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics.

Polygraphic sleep recordings (EEG, EMG, and EOG) were performed in two groups of epileptic subjects, six with fragile-X syndrome and six with symptomatic epilepsy. Recordings were visually scored for sleep stages and number of spikes/min. Subjects with fragile-X syndrome showed a well defined pattern of production of interictal epileptiform activity with the lowest values during REM sleep; symptomatic epileptic subjects showed less defined and more variable spike/min diagrams. The spectral analysis of the outline of such diagrams confirmed these differences showing shorter periodicities (80-100 min) in the fragile-X group compared to those of the symptomatic group (160-220 min). Finally, a model with multiple feedback circuits is proposed in order to explain the different patterns observed.

Activity Cycles↗
PubMed1989

A simple electronic and computer system for automatic spindle detection.

The authors present a new system for the automatic detection of sleep spindles. The electronic and computer analysis are described and a comparison between automatic and visual analysis, performed by two independent readers, was carried out with the aim of evaluating the reliability of the system. Results are discussed and compared with those of different systems already described.

Electroencephalography↗
PubMed1989

Comparison between the results of an automatic and a visual scoring of sleep EEG recordings.

In this paper, results from the visual scoring of nocturnal polygraphic recordings, carried out by nine different groups of readers from different Italian sleep laboratories, are analyzed; inter-and intragroup variability is shown and statistically discussed. Data are then compared with the results of an automatic scoring of the same recordings, carried out by the Medilog Sleep Stager. The validity of this automatic method of scoring is discussed. Finally, an epoch by epoch analysis is described, with the aim of achieving a more detailed evaluation of the intergroup variability.

Adolescent↗
PubMed1987

Butoctamide hydrogen succinate and intensive learning sessions: effects on night sleep of Down's syndrome patients.

Mentally retarded children present a reduction in percentage of REM sleep and of oculomotor frequencies. These sleep patterns are probably relevant for their cognitive activities. The effects of butoctamide hydrogen succinate and intensive learning sessions on the night sleep of five Down's syndrome patients was studied by the authors. They found an increase in percentage of REM sleep after pharmacological treatment and an increase in oculomotor frequencies after learning sessions. The authors' hypotheses of REM sleep as a neurophysiological indicator of cerebral "plasticity" and of oculomotor frequencies as an indicator of "organization" abilities are discussed in this article. Pedagogical implications and therapeutical perspectives are also outlined.

Amides↗
PubMed1986

Sleep patterns of Down's syndrome children: effects of butoctamide hydrogen succinate (BAHS) administration.

Several investigators have described the altered sleep patterns in Down's syndrome subjects. The most relevant findings have been a reduction in percentage of REM sleep, a prolonged latency to the first REM episode, an increase in undifferentiated sleep, and a reduced ratio of the oculomotor frequencies. Because it is of interest to identify new drugs able to increase the percentage of REM sleep in mentally retarded subjects, we studied the effects of butoctamide hydrogen succinate (BAHS) on nocturnal sleep in eight young institutionalized Down's syndrome subjects. BAHS produced a significant increase in the percentage of REM sleep as well as a decrease in undifferentiated sleep and latency to the first REM.

Amides↗
PubMedDate not supplied

Prevalence of a novel epileptogenic EEG pattern in the Martin-Bell syndrome.

In this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin-Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the sensitivity, allows us to propose this pattern as an important "marker", useful in the diagnosis of the Martin-Bell syndrome.

Adolescent↗