Search PubMed⌕ Search

Biomedical subjects

D Riva

Publications and source records attributed to D Riva.

At least 19 recordsLinked to original sources
PubMed2002

Intrathecal methotrexate affects cognitive function in children with medulloblastoma.

BACKGROUND: Cognitive impairment occurs after malignant brain tumor treatment in children, following brain radiotherapy and systemic and intrathecal chemotherapy. OBJECTIVES: 1) To compare two groups of children who underwent surgery for cerebellar medulloblastoma with their cousins and siblings, assessing intelligence, executive function, attention, visual perception, and short-term memory. Both groups were treated with the same combined radiotherapy-chemotherapy, but differed in that only one group received intrathecal methotrexate (MTX+). 2) To relate these measures to MRI findings (leukomalacia). RESULTS: The two groups performed worse than their control subjects in all tests. The MTX+ group younger than 10 years performed significantly worse in all tests, particularly executive ones. The group older than 10 years performed significantly worse only in short-term memory. Younger patients without MTX performed significantly worse than controls only in some neuropsychological measures; there were no differences between older patients and control subjects. Only in the MTX+ group was there a direct correlation between extent of leukomalacia and performance in some tests. CONCLUSIONS: The administration of intrathecal methotrexate to children with medulloblastoma worsens the cognitive deficits induced by chemotherapy and radiotherapy. The use of intrathecal methotrexate in the treatment of medulloblastoma and other malignancies should be reassessed.

Adolescent↗
PubMed2001

Developmental patterns of verbal and visuospatial spans.

This study presents developmental data for verbal and spatial memory tasks: Corsi's block-tapping test and Luria's verbal learning test. Norms have been collected from 275 primary and early secondary school children aged from 5 years, 4 months to 13 years, 6 months. Our results confirm a slow and constant improvement in performances over time, and the advantage of about 1.5 items of the verbal span over the spatial span supports the existence of developmental differences between separate memory systems. No significant sex difference was found even if a slight trend in verbal span favouring female subjects is present.

Adolescent↗
PubMed2001

Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report.

Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.

Adolescent↗
PubMed2000

Neuropsychological testing may predict early progression of asymptomatic adrenoleukodystrophy.

OBJECTIVES: To investigate the correlation between neuropsychological and MRI findings in children with the childhood cerebral (CCALD) and asymptomatic forms of X-linked adrenoleukodystrophy (ALD) and to identify early cognitive markers that may predict disease progression in asymptomatic children with ALD. BACKGROUND: The few published neuropsychological studies on CCALD suggest a correlation between the pattern of cognitive deficit and lesion site; however, neuropsychological performance in asymptomatic children with ALD has not been investigated. METHODS: The authors assessed cognitive function and cerebral MRI findings in seven CCALD and eight asymptomatic ALD children. RESULTS: The CCALD children's cognitive skills were severely compromised, especially Wechsler and executive functions. Visual perception, short-term memory, and language were generally preserved, except that naming was severely impaired. All had extensive posterior white matter deterioration. The asymptomatic children had relatively intact neuropsychological performance, but their verbal fluency was compromised and naming severely impaired. All except one had mild white matter alterations. For all the children, the majority of neuropsychological test performance correlated significantly with extent of white matter lesions. CONCLUSIONS: The pattern of cognitive deterioration in children with CCALD and the significant correlation of neuropsychological test performance with extent of white matter lesions indicate a white matter dementia similar to that observed in adults with demyelinating diseases. The deficits found in asymptomatic children, despite their normal intelligence, suggest that careful neuropsychological investigation can identify early signs of malfunction. These may be markers of disease progression useful for selecting children for bone marrow transplant, although this will require confirmation by prospective longitudinal studies.

Adolescent↗
PubMed2000

Developmental aspects of verbal fluency and confrontation naming in children.

Developmental changes in children's verbal fluency and confrontation naming were explored in this study. One hundred and sixty children (ages 5 years and 11 months to 11 years and 4 months) completed two verbal fluency tasks (phonemic and semantic) and the Boston Naming Test (BNT). Normative data were compiled for the BNT and the phonemic and semantic fluency tasks. With the exception of the phonemic fluency task, all tests showed a linear increase from year-groups I to V, with a significant increase between year-groups I and II. Principal Component Factor Analysis was conducted to determine whether the tests evaluated similar or different functions. Two factors emerged: the first involving all of the measurements and the second explaining exclusively the phonemic fluency. These results make it possible to conclude that children also seem to have different subsystems responsible for the analysis and processing of different aspects of language.

Adult↗
PubMed2000

Management of medulloblastoma and ependymoma in infants: a single-institution long-term retrospective report.

To reduce the sequelae from CNS irradiation (RT), 16 children younger than 3 years with medulloblastoma-PNET (13 cases) and ependymoma (3 cases) were treated between 1987-1993 according to different postsurgical chemotherapy (CT) programs. None of these patients presented with metastases. Eleven patients were rendered disease-free by surgery, while 5 had residual tumor. Adjuvant therapy depended on patients' age, postsurgical status and parents' consent to radiotherapy (RT). Nine of the 16 infants remained alive in continuous complete remission from the first neoplasm (median follow-up 7 years). Three of them had been treated with CT alone and 6 with combined CT + RT (posterior fossa 4, whole CNS 2). Seven patients relapsed a median of 13 months after diagnosis, and all 7 of them died of their disease. Despite the omission of RT in 6 of the 16 patients and administration of only focal RT in 8 of the 16, the outcome of this series was satisfactory. Local failure (in 5/7 patients) was the major problem, despite the high dose of RT used in 2 of these 5. In 4 of 6 evaluable children school performance was satisfactory. One child in whom the entire CNS was irradiated developed glioblastoma multiforme 120 months after the first diagnosis of medulloblastoma.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2000

The neurodevelopmental price of survival in children with malignant brain tumours.

Increasing survival rates in malignant brain tumors treatment have directed attention to the side effects of long-term disease control. Nevertheless, although the treatment protocols are continuously remodelled, the quality of life of children surviving for a long time is still poor. The most severe sequelae are neurocognitive disorders, which are associated with neurobehavioural alterations. The last are partly derived directly from the lesion localisation and treatments, but are often reinforced by academic and social failure. The deleterious effect of radiotherapy (CRT) is very well documented and confirmed in all the studies. The radiation dose delivered according to the age has reduced, but not fully eliminated, the negative influence on mental functioning. Also the CRT hyperfractionation has reduced, but not cancelled, this cognitive negative impact. Intrathecal methotrexate per se is responsible for a severe cognitive impairment, which can be even more severe in association to CRT. Some surgical approaches have been responsible for postoperative behavioural disturbances. Serial neuropsychological and behavioural evaluations, which should also include the survivors' own perception of their quality of life, are badly needed. The results of these evaluations should be covariate with several factors (age, type of surgery, lesion site, hydrocephalus, complementary therapies) in an attempt to define interdisciplinary treatment protocols to maximise survival while minimising cognitive/behavioural deficits.

Brain Damage, Chronic↗
PubMed2000

Robotics in child neurosurgery.

We felt there was a need for a new device with "minimal invasive" tracking hardware, to be used in image-guided neurosurgery, and the system we designed to fill this need is now presented. It combines precision of movement, stability and self-positioning capabilities together with optically tracked registration and procedural control within the structure of a surgical microscope. The results are reduced setup time and minimal "distraction" from the procedure itself, factors of special relevance in child neurosurgery. The system is composed of a six-axis industrial robot suitable for use in the operating room, carrying a surgical microscope. Three progressive scan-synchronized infrared cameras mounted around the lenses of the scope are used to register the patient's position and track surgical instruments with reference to the registered space. Orientation of the microscope during surgery is obtained with a six-axis joystick used as a microscope handle. The system has been clinically used in 14 cases, and it has proven itself to be reliable, providing the expected performance advantages. The implementation of a tracked ultrasound or endoscope intraoperative imaging source is also described.

Brain Diseases↗
PubMed2000

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy.

3-Methylglutaconic aciduria is a rare hereditary metabolic disorder characterized by increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acids. Four clinical forms are recognized. This study presents the case of a 5-year-old male with type IV 3-methylglutaconic aciduria, initially diagnosed as "static encephalopathy." The slow evolution and other clinical characteristics, together with cerebral magnetic resonance imaging (MRI) findings, eventually directed the diagnosis to organic aciduria that was confirmed by urine test. This study proposes that the clinical criteria for childhood cerebral palsy should be rigorously respected; neuroimaging studies, particularly MRI, should be conducted to confirm the diagnosis, especially in atypical cases.

Cerebral Palsy↗
PubMed2000

The cerebellum contributes to higher functions during development: evidence from a series of children surgically treated for posterior fossa tumours.

We present data on the intellectual, language and executive functions of 26 children who had undergone surgery for the removal of cerebellar hemisphere or vermal tumours. The children with right cerebellar tumours presented with disturbances of auditory sequential memory and language processing, whereas those with left cerebellar tumours showed deficits on tests of spatial and visual sequential memory. The vermal lesions led to two profiles: (i) post-surgical mutism, which evolved into speech disorders or language disturbances similar to agrammatism; and (ii) behavioural disturbances ranging from irritability to behaviours reminiscent of autism. These data are consistent with the recently acknowledged role of the cerebellum as a modulator of mental and social functions, and suggest that this role is operative early in childhood.

Adolescent↗
PubMed1999

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14+1G>A)] and 4 missense mutations (85T>C, 703C>T, 2658G>A, 2983G>T). Analysis of the prevalence of the various mutations among DPD patients has shown that the G-->A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. A clear correlation between the genotype and phenotype has not been established. An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency.

Animals↗
PubMed1999

Carbamazepine withdrawal in children with previous symptomatic partial epilepsy: effects on neuropsychologic function.

Neurocognitive performance was evaluated in seven children with symptomatic partial epilepsy prior to, and at least 12 months after, discontinuation of carbamazepine. The patients treated with carbamazepine monotherapy were seizure-free for at least 2 years and without electroencephalographic anomalies for at least 1 year. Results indicated that carbamazepine at therapeutic levels does not affect intellectual, memory, or attentional functions, or more complex frontal functions. Nevertheless, after therapy withdrawal scores on frontal function tests used in this study improved significantly. This suggests that these functions could have been better without carbamazepine therapy. The fact that carbamazepine decreases neuron membrane excitability and could reduce the information circuity, particularly in the frontal areas, is offered as a possible explanation. Further studies on larger samples using the same design are required to validate these results.

Adolescent↗
PubMed1998

The cerebellar contribution to language and sequential functions: evidence from a child with cerebellitis.

We report the case of a 4 years and 2 months old girl, whose development was normal before she suffered from severe viral cerebellitis. When she recovered from the acute phase, a complete loss of speech was evident, although language comprehension was not impaired. Mutism disappeared after about two weeks, giving way to the aphonic utterance of a few words. After three months, her speech was slow and monotonous, without phonetic disturbances. She could only produce very simple and incomplete sentences in both spontaneous and constrained situations and she was able to maintain discourse sequentiality only under continuous guidance. No deficit in single-word recognition or naming was detected. Her sentence reproduction was good, while verbal fluency was very poor when no cue was given, but was normal with category cues. Her intelligence was within the normal range, but activities requiring programming, particularly those involving sequencing, were very defective. The patient's impairment is attributed to the failure of the cerebellar-frontal loops to activate strategies involved in processing and programming verbal and sequential functions.

Cerebellar Diseases↗
PubMed1998

Language deficits in a child with omolateral (left) temporo-basal and cerebellar lesions.

We report the case of an 8-year-old boy with two distinct brain lesions, probably hamartomas or low grade gliomas: one in the left basal temporal region, with involvement of the fusiform gyrus, the other in the white matter of the left cerebellar hemisphere. Both lesions were diagnosed at seven, when NMR was performed because of partial complex seizure. A mild delay in the first language acquisition and a long-lasting difficulty in word retrieval were reported. On neuropsychological testing, language was impaired more in production tasks than in comprehension ones, with severe deficit in word finding. The etiological role of the two different lesions is discussed in relation to experimental evidence of the existence of a distinct language area in the basal temporal region (fusiform gyrus).

Brain Neoplasms↗
PubMed1997

Radiosurgery for cerebral AVMs in children and adolescents: the neurobehavioral outcome.

Eight patients, ranging in age from 9 to 18 years, were treated for arteriovenous malformations using gamma knife radiosurgery and were evaluated an average of 6 years after treatment to record potential effects of radiosurgery on cognitive and neuropsychological performance. Tests for general intelligence, nonverbal intelligence, memory and its components, and attention performance were administered to patients and compared with test results of age-matched siblings or first cousins. No statistically significant difference was found between the performance of patients and controls in any of the tests administered. Additionally, a specially designed questionnaire completed by the patients, their parents, and their teachers revealed that the patients' emotional and relational behavior was stable and unchanged after treatment. No correlation was found between the neurocognitive test performance and the lesion volumes irradiated, but the lesion site was found to contribute to the type of deficit recorded after treatment. The less invasive nature of the radiosurgical approach, combined with the brevity or absence of hospitalization, presumably contributed to the patients successful physical, mental, and emotional recovery.

Adolescent↗
PubMed1996

Discontinuation of phenobarbital in children: effects on neurocognitive behavior.

Neurocognitive performances were evaluated in 9 children with different types of epilepsy prior to and at least 6 months after discontinuation of phenobarbital. The patients treated with phenobarbital monotherapy were seizure free for at least 2 years, without electro-encephalographic anomalies for at least 1 year. Results indicated that phenobarbital at low therapeutic doses causes attentional and memory deficits, reversible after therapy discontinuation. Further research utilizing the same design is needed on larger samples in order to confirm our results.

Adolescent↗
PubMed1994

Intelligence outcome in children with shunted hydrocephalus of different etiology.

Children with shunted hydrocephalus of differing etiologies were assessed. There was a more selective loss of non-verbal than of verbal intelligence. The verbal and visuo-perceptual abilities were affected by different sets of variables. Variables related to the hydrocephalus had no effects, while associated supratentorial malformations significantly affected non-verbal functions.

Adolescent↗