A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3... more A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.
A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic res... more A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic resonance imaging revealed a unilateral periventricular nodular heterotopia near the occipital ventricular right horn. Interictal and ictal electroencephalographic recordings showed bilateral specific epileptiform anomalies in the occipital region and asynchronous slow waves in frontal areas. Single photon emission computed tomography documented a reduction in regional cerebral blood flow in an area of the left occipital cortex and a symmetric increase in tracer uptake in the frontal lobes. The neuropsychologic assessment revealed a dysfunction of the frontal associative areas. Data collected led the authors to suspect a more diffuse cortical dysfunction than the nodular heterotopia revealed on magnetic resonance imaging.
In this article, the interrelations between biological and emotional factors in learning disabili... more In this article, the interrelations between biological and emotional factors in learning disabilities in Turner's syndrome are studied. This is a transversal study with a 18 months neuropsychiatric follow-up. Five girls with the syndrome, aged between 12 and 22 years have been studied using Wechsler scales (WISC-R and WAIS), individual interviews and psychodiagnostic tests, to describe both their cognitive profile and psychological traits. The intelligence tests show selective impairments in visuo-spatial area, with lower score on performance IQ, especially in the sub-tests "Block Design" and "Object Assembly"; individual interviews and psychodiagnostic tests show signs of psychological disease, often consequences of this syndrome, and only in one girl with an associated diagnosis of psychosis. Psychological and environmental factors, as well as the genetics, may play an important role in the impairment of cognitive abilities, and the neuropsychological aspec...
This report presents the case of a previously healthy 6-year-old girl who had an ischemic injury ... more This report presents the case of a previously healthy 6-year-old girl who had an ischemic injury corresponding to the territory perfused by the lateral branches of the lenticulostriate arteries of the middle cerebral artery. Stroke in childhood is rare, and the specific causes are identified in only half the cases. Our patient was carefully studied for any hereditary or acquired risk factors for stroke, but we found only one, an endoscopic injection of Teflon performed 1 year before to correct vesicoureteral reflux. This suggests the risk of potential migration of Teflon particles to the brain, where they can block the microcirculation.
To study neuropsychological functions in children with idiopathic epilepsy at onset of treatment ... more To study neuropsychological functions in children with idiopathic epilepsy at onset of treatment and after 1 year of therapy and to identify factors associated with cognitive impairment. 43 Subjects aged 5.2-16.9 years with newly diagnosed idiopathic epilepsy were enrolled and started treatment with valproate or carbamazepine. At admission and after 12 months, all patients underwent clinical examinations, the Child Behavioural Checklist, EEG and a neuropsychological test battery. The results of each test were correlated to demographic, clinical, electrophysiological and therapeutic variables. Except for attention, all neuropsychological functions were normal at admission and after 12 months. An improvement with time was noted for memory (p<0.05) and logical-executive functions (p<0.01). Attentive deficit was worse at 12 months (53.5% vs. 32.6%). Low socio-economic level and emotional and behavioural disturbances were the only factors negatively correlated to intelligence, memory and attention. Compared to valproate, carbamazepine was most commonly implicated. Idiopathic epilepsy can affect attention, even before starting treatment. Emotional and behavioural difficulties and a low socio-economical status are associated with cognitive impairment.
It has recently been demonstrated that patients with Angelman&amp... more It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three γ-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in
Before starting antiepilepsy therapy (T1) and after 1 year (T2), 19 children (7 female) affected ... more Before starting antiepilepsy therapy (T1) and after 1 year (T2), 19 children (7 female) affected by focal or generalized idiopathic epilepsy were considered with the aim of studying attention performance. All of the children received a neurological examination and clinical interview, electroencephalography (EEG) in wakefulness or sleep, and a standardized computerized measure of attention (Conners' Continuous Performance Test). At T1, 21% of the patients showed a specific attention disorder, and their percentage rose to 42% after 1 year, despite complete control of seizures. The prognosis was strongly correlated with (1) the presence of active seizures for a period of over 6 months, (2) the persistence of specific interictal abnormalities on an electroencephalogram at T2, and (3) the presence of emotional and behavioral disorders at the diagnosis of epilepsy. Our results confirm that attention disorders are frequent in children with idiopathic epilepsy. The Conners' Continuous Performance Test has proven useful both for diagnosis and follow-up over time.
Pervasive developmental disorders are characterized by severe, pervasive impairment in several ar... more Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder. In inverted duplicated chromosome 15 syndrome, in which there is a small marker chromosome derived from inversion and duplication of the chromosome 15q11-q13 region, all patients present with pervasive developmental disorder. To further investigate a possible involvement of the gamma-aminobutyric acid (GABA)ergic system in the inverted duplicated chromosome 15 syndrome, we evaluated plasma levels of GABA and diazepam binding inhibitor in 6 patients with inverted duplicated chromosome 15 and in 8 subjects not affected by neurologic disease. Our findings do not seem to support this hypothesis as no significant differences were found in the GABA and diazepam binding inhibitor plasma levels between patients with inverted duplicated chromosome 15 and controls, but we must consider the possibility that a genetic abnormality of the GABA(A) receptor could be present in patients with inverted duplicated chromosome 15 and still not be reflected in an alteration in either GABA or diazepam binding inhibitor levels in plasma.
A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3... more A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.
A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic res... more A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic resonance imaging revealed a unilateral periventricular nodular heterotopia near the occipital ventricular right horn. Interictal and ictal electroencephalographic recordings showed bilateral specific epileptiform anomalies in the occipital region and asynchronous slow waves in frontal areas. Single photon emission computed tomography documented a reduction in regional cerebral blood flow in an area of the left occipital cortex and a symmetric increase in tracer uptake in the frontal lobes. The neuropsychologic assessment revealed a dysfunction of the frontal associative areas. Data collected led the authors to suspect a more diffuse cortical dysfunction than the nodular heterotopia revealed on magnetic resonance imaging.
In this article, the interrelations between biological and emotional factors in learning disabili... more In this article, the interrelations between biological and emotional factors in learning disabilities in Turner's syndrome are studied. This is a transversal study with a 18 months neuropsychiatric follow-up. Five girls with the syndrome, aged between 12 and 22 years have been studied using Wechsler scales (WISC-R and WAIS), individual interviews and psychodiagnostic tests, to describe both their cognitive profile and psychological traits. The intelligence tests show selective impairments in visuo-spatial area, with lower score on performance IQ, especially in the sub-tests "Block Design" and "Object Assembly"; individual interviews and psychodiagnostic tests show signs of psychological disease, often consequences of this syndrome, and only in one girl with an associated diagnosis of psychosis. Psychological and environmental factors, as well as the genetics, may play an important role in the impairment of cognitive abilities, and the neuropsychological aspec...
This report presents the case of a previously healthy 6-year-old girl who had an ischemic injury ... more This report presents the case of a previously healthy 6-year-old girl who had an ischemic injury corresponding to the territory perfused by the lateral branches of the lenticulostriate arteries of the middle cerebral artery. Stroke in childhood is rare, and the specific causes are identified in only half the cases. Our patient was carefully studied for any hereditary or acquired risk factors for stroke, but we found only one, an endoscopic injection of Teflon performed 1 year before to correct vesicoureteral reflux. This suggests the risk of potential migration of Teflon particles to the brain, where they can block the microcirculation.
To study neuropsychological functions in children with idiopathic epilepsy at onset of treatment ... more To study neuropsychological functions in children with idiopathic epilepsy at onset of treatment and after 1 year of therapy and to identify factors associated with cognitive impairment. 43 Subjects aged 5.2-16.9 years with newly diagnosed idiopathic epilepsy were enrolled and started treatment with valproate or carbamazepine. At admission and after 12 months, all patients underwent clinical examinations, the Child Behavioural Checklist, EEG and a neuropsychological test battery. The results of each test were correlated to demographic, clinical, electrophysiological and therapeutic variables. Except for attention, all neuropsychological functions were normal at admission and after 12 months. An improvement with time was noted for memory (p<0.05) and logical-executive functions (p<0.01). Attentive deficit was worse at 12 months (53.5% vs. 32.6%). Low socio-economic level and emotional and behavioural disturbances were the only factors negatively correlated to intelligence, memory and attention. Compared to valproate, carbamazepine was most commonly implicated. Idiopathic epilepsy can affect attention, even before starting treatment. Emotional and behavioural difficulties and a low socio-economical status are associated with cognitive impairment.
It has recently been demonstrated that patients with Angelman&amp... more It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three γ-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in
Before starting antiepilepsy therapy (T1) and after 1 year (T2), 19 children (7 female) affected ... more Before starting antiepilepsy therapy (T1) and after 1 year (T2), 19 children (7 female) affected by focal or generalized idiopathic epilepsy were considered with the aim of studying attention performance. All of the children received a neurological examination and clinical interview, electroencephalography (EEG) in wakefulness or sleep, and a standardized computerized measure of attention (Conners' Continuous Performance Test). At T1, 21% of the patients showed a specific attention disorder, and their percentage rose to 42% after 1 year, despite complete control of seizures. The prognosis was strongly correlated with (1) the presence of active seizures for a period of over 6 months, (2) the persistence of specific interictal abnormalities on an electroencephalogram at T2, and (3) the presence of emotional and behavioral disorders at the diagnosis of epilepsy. Our results confirm that attention disorders are frequent in children with idiopathic epilepsy. The Conners' Continuous Performance Test has proven useful both for diagnosis and follow-up over time.
Pervasive developmental disorders are characterized by severe, pervasive impairment in several ar... more Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder. In inverted duplicated chromosome 15 syndrome, in which there is a small marker chromosome derived from inversion and duplication of the chromosome 15q11-q13 region, all patients present with pervasive developmental disorder. To further investigate a possible involvement of the gamma-aminobutyric acid (GABA)ergic system in the inverted duplicated chromosome 15 syndrome, we evaluated plasma levels of GABA and diazepam binding inhibitor in 6 patients with inverted duplicated chromosome 15 and in 8 subjects not affected by neurologic disease. Our findings do not seem to support this hypothesis as no significant differences were found in the GABA and diazepam binding inhibitor plasma levels between patients with inverted duplicated chromosome 15 and controls, but we must consider the possibility that a genetic abnormality of the GABA(A) receptor could be present in patients with inverted duplicated chromosome 15 and still not be reflected in an alteration in either GABA or diazepam binding inhibitor levels in plasma.
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