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Biomedical subjects

F Guzzetta

Publications and source records attributed to F Guzzetta.

At least 19 recordsLinked to original sources
PubMed2006

Cognitive assessment in epilepsy surgery of children.

INTRODUCTION: Although the neurocognitive assessment in children as in the adults is an important step before and after surgery, in the literature, the data about pre- and postoperative neurocognitive evaluations in children are very few. OBJECTIVE: The purpose of this paper is to consider some peculiar aspects of the neurocognitive assessment during development, and report literature data about neuropsychological outcome of epileptic children treated with focal resection and hemispherectomy. RESULTS AND DISCUSSION: The second section concerns our personal experience about a cohort of 45 children with refractory epilepsy operated on before 7 years. The results suggest that early surgical treatment is generally effective for seizure control and behavior improvement in children with refractory epilepsy. Concerning cognitive outcome, we found that the neurocognitive level was unchanged in the majority of the patients. CONCLUSION: We underline the importance of multicentric studies with standardized neuropsychological assessments in large series of young children.

Adolescent↗
PubMed2006

Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function.

At the onset of West syndrome a specific impairment of visual function has been clearly demonstrated, while other aspects of sensorial development, and in particular of the auditory function, have been less studied. The aim of this study was to evaluate auditory function and orienting responses at the onset of West syndrome, and to relate the results with EEG patterns, visual function and neurodevelopmental competence. A prospective multicentric study was performed on 25 successively enrolled infants with West syndrome; all the patients underwent a full clinical assessment, including MRI and video-EEG, visual function and auditory orienting responses (AORs) as well as Griffiths' developmental scales. The whole assessment performed at the onset of spasms (T0) was repeated after two months (T1). AORs resulted significantly impaired both at T0 and T1. At the onset of spasms a highly significant relationship of auditory attention with visual function and neurodevelopmental competence was shown in both cryptogenic and symptomatic forms, but it was no longer present after two months. Our results may suggest a possible pervasive effect of the epileptic disorder on sensory processing, associated to a deficit of neurodevelopment. Although we failed to show a significant correlation between auditory orienting responses and EEG patterns, some evidence seems to support at least partially an influence of the epileptic disorder per se on the genesis of the sensorial impairment. A longer follow up and a larger cohort will be useful for a better clarification of these findings.

Acoustic Stimulation↗
PubMed2005

Developmental plasticity after right hemispherectomy in an epileptic adolescent with early brain injury.

OBJECTIVES: The authors present the case of an adolescent affected with refractory epilepsy due to a neonatal ischemic infarction of the right medial cerebral artery. Hemiplegic since the first months of life, she began presenting motor partial seizures associated with drop attacks at 4.5 years; these were initially well controlled by antiepileptic drugs, but at 10 years seizures appeared again and became refractory. Thus, at 14 years and 10 months, she was submitted to a right hemispherectomy that made her rapidly seizure free. In the post-surgical follow-up lasting 5 years, neuropsychological serial assessments showed an impressive progressive improvement of cognitive skills, namely, visuospatial abilities. This case seems to challenge the widely spread feeling that functional catch-up in brain-injured children could only occur early in life. In effect, the astonishing recovery especially of visuospatial skills in our case occurred in adolescence after a late surgical intervention of right hemispherectomy. METHODS: Different neuropsychological aspects are discussed. The reorganisation process recovered the spatial and linguistic abilities as well as the verbal and visuospatial memory; however, there was a persistent impairment of complex spatial and perceptual skills as well as recall abilities. Despite the deficit of complex visual stimuli processing, the patient showed a good performance in the recognition of unknown faces. CONCLUSIONS: Probably, the absence of seizures in the first 4 years of life could have allowed a generally adequate compensatory reorganisation, successively masked by the persistent and diffuse epileptic disorder. The seizure control produced by surgery eventually made evident the effectiveness of the brain reorganisation.

Adolescent↗
PubMed2004

Observation of continuous spike-waves during slow sleep in children with myelomeningocele.

CASES: Two patients with myelomeningoceles (MMC) and shunt-treated hydrocephalus are reported. At 5 and 7 years respectively, when they began presenting mental deterioration and behavioural disorders, sleep EEG showed continuous spike-waves during slow sleep (CSWS). DISCUSSION: These are the first cases of CSWS described in patients with MMC. The mechanisms of CSWS are considered. The role of hydrocephalus and the thalamic injuries found in one of the patients is discussed in detail. The usefulness of monitoring sleep EEG in patients with hydrocephalus or thalamic lesions is stressed, considering the effects of CSWS on the cognitive competencies and the soft or subclinical course that epilepsy complicated with CSWS may follow.

Cerebrospinal Fluid Shunts↗
PubMed2004

Severe abnormalities of the pons in two infants with goldenhar syndrome.

We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant. At birth the girl showed polydactyly, labiopalatoschisis, right ear agenesis, left eye coloboma and vertebral anomalies. She also had marked hypotonia, severely reduced movements and respiratory and feeding abnormalities. She required gastrostomy at 5 months and tracheostomy at 7 months. Brain MRI scans showed moderate cerebellar hypoplasia and severe abnormalities of the pons with a congenital cleft. The child died at age 12 months. Case 2 is a Caucasian boy. Clinical signs and presentation were similar to case 1. The child also had severely reduced lacrimation, sweating, with thermoregulation abnormalities. He also underwent gastrostomy at 18 months. The child is now 3 years old and is able to sit only with support. Brain MRI was similar to case 1. The association of Goldenhar syndrome and pons abnormalities in 2 subjects suggests that this is more than a mere coincidence. Further studies and characterization of the genes involved in Goldenhar syndrome are needed to establish an adequate genotype-phenotype correlation.

Abnormalities, Multiple↗
PubMed2002

Does locomotion improve the cognitive profile of children with meningomyelocele?

OBJECTIVE: This study was conducted to test the hypothesis that locomotion can improve cognitive development in a paediatric population with meningomyelocele (MMC) and hydrocephalus. METHODS: Twenty-nine children with MMC and shunted hydrocephalus were studied. All had motor impairment, but after physiotherapy and training walking was possible in 23 of them (5 autonomously and 18 with an aid), while 6 had recourse to a wheelchair. In all 23 cases neuroimaging (TC scan and/or MRI) was performed to obtain data on the sequelae of perinatal lesions, alterations of the corpus callosum, and the presence or absence of cortical abnormalities and ventricular dilatation. All subjects underwent a neuropsychological assessment including the Wechsler Pre-school and Primary Scale for Infants (WIPPSI) and the Wechsler Intelligence Scale for Children Revisited (WISC-R). Statistical analysis was carried out with the ANOVA test. RESULTS: Even though global I.Q. in these MMC children was within the normal range, the characteristic splitting between verbal I.Q. (VIQ) and performance I.Q. (PIQ) was observed, but the most interesting observation was a significant performance-related difference (P=0.044 and P=0.012) between ambulatory patients (both with and without aids) and those who were dependent on wheelchairs (PIQ: 83-85 vs 63).

Adolescent↗
PubMed2002

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.

Children with a deficiency of laminin alpha 2 chain generally show an involvement of skeletal muscles, cerebral white matter and peripheral nerves. Among these patients, however, there is increasing evidence of molecular and phenotype heterogeneity. We report a 19-year-old girl with distal weakness, mental retardation and refractory epilepsy in whom elevated serum CK suggested a myopathy. Electrophysiological and neuroimaging examinations as well as studies of nerve and muscle biopsies were performed. Nerve conduction velocities were definitely reduced and brain MRI demonstrated a diffuse white matter involvement. The muscle biopsy showed both myopathic and neurogenic features. By immunohistochemistry laminin alpha 2 chain was mildly reduced in muscle and virtually absent in peripheral nerve. Teasing of sural nerve fibers showed a 'globular' hypermyelination characteristically located at the paranodal regions. A mild loss of myelinated fibers without any demyelination-remyelination changes was found. Haplotype analysis suggested linkage to the LAMA2 locus. Our case is peculiar as the putative mutation probably affects the expression of laminin alpha 2 chain is affected in a tissue specific manner: the protein is virtually absent in peripheral nerves but only mildly reduced in skeletal muscle. As to the disorder of nerve myelination, an absence or abnormal functioning of laminin alpha 2 chain can alter the feed-back control during myelinogenesis, leading to an over-ensheathment of axon. Alternatively, a compensatory up-regulation of other laminins can induce the hyperproduction of myelin sheaths. This case provides new evidence of the phenotypical heterogeneity of the LAMA2 gene and sheds light in understanding the role of laminin alpha 2 chain in myelination of peripheral nerve.

Adult↗
PubMed2001

Reversible aphasic disorder induced by lamotrigine in atypical benign childhood epilepsy.

PURPOSE: We studied an eleven year-old girl with atypical, benign partial epilepsy who acutely presented a severe aphasia associated with marked EEG deterioration after lamotrigine administration. A parallel monitoring of language disorders and EEG changes during the gradual withdrawal of lamotrigine was performed in order to evaluate their possible correlation with lamotrigine administration. METHODS: Detailed neuropsychological and linguistic examinations in association with awake and sleep EEG were periodically performed. RESULTS: The evolution of the aphasic disorder was closely related to the EEG abnormalities, and disappeared after the withdrawal of lamotrigine. CONCLUSIONS: We considered the hypothesis that our case could be an expression of a paradoxical reaction to lamotrigine, in which the transitory aphasic disorder was sustained by an epileptiform electric activation.

Anticonvulsants↗
PubMed2000

Brain ischemic lesions of the newborn.

Ischemia is the most frequent pathogenetic mechanism of brain lesions in infancy. The authors give a brief report on the recent advances achieved in knowledge of the underlying neuropathology, clinical manifestations, strategies of management and outcome of ischemic brain lesions in the newborn. A better knowledge of pathophysiological mechanisms is necessary so that prevention can be made more effective and outcomes improved. As far the vulnerability to ischemic insults in term and preterm infants is concerned, the different types of brain damage cause various neurological consequences at different gestational ages. Thus, the authors deal separately with white matter lesions, which are typical of infants born prematurely, and cortical brain ischemic lesions, which are found in full-term newborns.

Brain Damage, Chronic↗
PubMed2000

Perceptual-motor, visual and cognitive ability in very low birthweight preschool children without neonatal ultrasound abnormalities.

Thirty-six children born preterm with very low birth weight without neonatal brain disorders and normal cerebral ultrasound findings were examined at pre-school age: visual, perceptual motor, attention, behaviour and cognitive assessments were performed in the study group as well as in a control group of term children matched for age, sex and parental educational and occupational status. The results showed a significant lower scoring in perceptual motor skills in the study group, associated with a defect of accuracy in spatial attention and a higher incidence of stereopsis impairment related with perceptual motor disabilities. Behavioural disorders, in terms of emotional maturation and hyperactivity, were significantly more frequent in the study group. To prevent behavioural and learning problems at school, a complete longitudinal assessment including visual functions and perceptual motor abilities seems mandatory in preterm born children, even in the absence of neonatal brain disorders including abnormal cerebral ultrasound findings.

Attention↗
PubMed2000

Periodic lateralized epileptiform discharges (PLEDs) as early indicator of stroke in full-term newborns.

We report on periodic lateralized epileptiform discharges (PLEDs) on EEG in two infants with neonatal convulsions. In both neonates, the EEG abnormalities were seen soon after the onset of seizures, at a time when cranial ultrasound scans were thought to be normal. Subsequent Magnetic Resonance Imaging scans demonstrated cerebral infarction in both patients. In one case, the localisation of the lesion on MRI was concordant with that of the EEG abnormalities, as usually observed in adults with focal lesions. The other infant showed similar EEG abnormalities, but her MRI showed a localised lesion in the basal ganglia, which has also been reported to be involved in the genesis of these abnormalities.

Arm↗
PubMed2000

Surgical treatment of temporal tumors associated with epilepsy in children.

Seizures are a frequent sign of cerebral supratentorial tumors in children, especially when the location of the neoplasm is the temporal lobe. We report a series of 37 pediatric patients with temporal epileptogenic tumors. They represent 80.4% of children affected by temporal neoplasms, confirming the high incidence of seizures when neoplasms are located in this cerebral area. There was a slight male predominance. Epilepsy was the first symptom in all the patients of our series, as well as the only clinical manifestation present until surgery in 62% of patients. In the remaining children, hemiparesis, intracranial hypertension, psychosocial or neuropsychological disabilities, and delayed milestones arose before diagnosis and surgical treatment. The most frequent type of seizures was the partial complex (56%), but simple partial or generalized fits, as well as more than one type of seizures, were observed. The medial temporal structures were those more commonly involved, although seizures were observed also in cases where they were spared by tumors located exclusively in the temporal neocortex. On histology, most of the tumors showed a benign phenotype. Tumor resection was complete in 60% of cases; the excision of the tumor was incomplete in subjects whose lesion involved surgically inaccessible cerebral regions, as language areas, insular structures, and basal nuclei. As for epilepsy, 26 among the 32 long-term survivors can be classified in class I of Engel's classification; 4 of them did not receive any antiepileptic treatment. Four patients showed a significant reduction in the frequency of their fits. In 2 subjects, only the frequency of seizures was minimally reduced after tumor excision; in both, a partial removal of their tumor was performed. The relationship among the results on epilepsy and the extent of surgery removal of the tumor, brain tissue removal if any, frequency of seizures in the preoperative period and the time interval between the first epileptic manifestation and surgery show that the most significant prognostic element predictive of a good control of seizures is radical resection of the tumor.

Adolescent↗
PubMed1999

Epileptic disorders with onset in the first year of life: neurological and cognitive outcome.

We examined prospectively a series of 150 children with epilepsy beginning in the first year of life. We classified the types of epilepsy into five categories: West syndrome, other epileptic encephalopathies, generalized, partial and undetermined epilepsies. Of 150 patients, 15 died; 135 were followed for at least 4 years. In order to define possible factors influencing prognosis we evaluated neurological and cognitive outcome and made percentage comparisons between groups, for aetiology, age of onset, family history of epilepsy, and psychomotor development before onset. Epileptic encephalopathies as well as the symptomatic forms of West syndrome showed a very poor neurological and cognitive outcome. As previously recognized, only cryptogenic forms of West syndrome had a benign prognosis. For the generalized epilepsies, analysis of different factors, namely late age at onset, cryptogenicity and absence of primary cognitive impairment, indicated a good prognosis. In contrast, partial epilepsies usually had a poor outcome, irrespective of the aetiology, whether cryptogenic or symptomatic.

Age of Onset↗
PubMed1999

Motor and perceptual-motor competence in children with Down syndrome: variation in performance with age.

The aim of this study was to determine whether perceptual-motor competence in school-age children with Down syndrome was generally delayed or varied as a function of type of action. Twenty-two children with Down syndrome (13 males, 9 females), aged between 4.5 and 14 years were assessed on two standardized tests, the Movement Assessment Battery for Children (Movement ABC), a test of motor competence assessing gross and fine motor coordination, and on the Developmental Test of Visual-Motor Integration, a test focusing on shape copying. In order to obtain a profile of each child's performance on the different items contained in the Movement ABC, the test was used in its extended form. This involves testing any child who failed an item appropriate for his/her level, at progressively lower levels until a base-line measure was obtained. All the children obtained scores below the 5th percentile for their age on both tests. However, superimposed on this delay, we found distinct variation as a function of task. Whereas some aspects of gross motor function showed age development with delayed but regular acquisitions, all the aspects of fine motor skills assessed were more severely impaired and showed little development with age. Accuracy and timing of tasks requiring bimanual coordination were most impaired in our sample while balance and ball skills showed more variability. These results suggest that intervention in the motor domain should be varied according to each child's particular profile of performance.

Adolescent↗
PubMed1999

Neuro-cognitive development and epilepsy outcome in children with surgically treated hemimegalencephaly.

We performed a long-term follow-up of 10 patients with hemimegalencephaly and refractory epilepsy, after having treated them with hemispherectomy. Before surgery, 9 patients presented with delayed motor and cognitive development. Surgery was performed between age 5 months and 4 years and 8 months; the mean postsurgical follow-up was 5 years and 2 months. The epilepsy improved in most cases: 6 patients became seizure-free and 2 presented only dystonic fits. The cognitive outcome was less favourable, even though some improvement of cognitive competence was found in all. The neurological deficit did not increase after surgery, and the quality of life improved significantly. A good cognitive development before surgery, less severe morphological changes in neuroimaging, and functional and anatomical integrity of the "healthy" hemisphere seem to be associated with a better cognitive outcome.

Adolescent↗