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Biomedical subjects

G Cioni

Publications and source records attributed to G Cioni.

At least 19 recordsLinked to original sources
PubMed2006

Maturation of cerebral electrical activity and development of cortical folding in young very preterm infants.

OBJECTIVE: The aim of this study was to examine the relationship between cortical development and cerebral electrical activity at early gestational ages. METHODS: We obtained EEGs (7.2+/-3.8 days) and MR brain images (3.2+/-2.9 days) after birth in 17<30 week gestation infants without evidence of focal brain injury The EEGs were assessed for discontinuity and characteristic maturational features (delta brush, occipital and temporal sawtooth); cortical development was quantified from MR scans using a specially designed computer programme to measure cortical folding. RESULTS: The inter-burst interval shortened and cortical folding increased with increasing post-menstrual age (PMA). In contrast, the minimum duration of bursts was independent of PMA and cortical folding. Delta brush (8-20 Hz activities) was seen at all PMAs; temporal and occipital sawtooth activities were always more prominent than delta brush but were seen less frequently with increasing PMA and complexity of cortical folding. CONCLUSION: There was a positive correlation between some but not all maturational features of the preterm neonatal EEG and the complexity of whole brain cortical folding and PMA. These relationships were strong for the inter-burst interval, a global measure of maturation, but not strongly seen for regional features such as occipital and temporal sawtooth within this gestational age range. SIGNIFICANCE: Combining neurophysiological examination with detailed neuroimaging gives insights into developmental changes occurring in the very preterm brains and suggests further comparative studies focusing on measures of focal brain development at different gestational ages.

Cerebral Cortex↗
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

Distribution of sleep and wakefulness EEG patterns in 24-h recordings of preterm and full-term newborns.

The aim of this study was to evaluate the organisation of EEG patterns in 24-h recordings of preterm and near-term neonates. In particular, the distribution of the different EEG codes at different postmenstrual ages (PMA) and the variations of sleep-related EEG pattern organisation was studied, during day (8.00 a.m.-8.00 p.m.) and night (8.00 p.m.-8.00 a.m.) time. The age of appearance of different neonatal EEG patterns, previously described in literature for short lasting records, was confirmed in this 24-h study. The medium-voltage continuous EEG pattern (pattern "3") was less represented approaching term age, in coincidence with the appearance of the two low-voltage continuous patterns ("1" and "2"), which are also related to active sleep and wakefulness. Discontinuous pattern ("7") was also less represented with age, but in day-time only. The percentage of time occupied by this pattern, related to quiet sleep, was significantly higher during day-time hours, than at night.

Circadian Rhythm↗
PubMed2005

Atypical language lateralization and early linguistic development in children with focal brain lesions.

The effects of congenital, unilateral, focal brain lesions on early linguistic development and hemispheric lateralization for language were investigated longitudinally in 24 preschool children with hemiplegia (14 males, 10 females), 12 with left hemisphere damage (LHD) and 12 with right hemisphere damage (RHD). A comprehensive linguistic assessment was performed at 2 and 3 years of life; cerebral lateralization for language was measured by the Fused Dichotic Words Listening Test. An early left-side specificity for language was indicated by the presence of lexical and grammatical delay in most children with LHD. In the dichotic listening test all 12 children with LHD showed a shift of language lateralization from the left to the right hemisphere. Atypical lateralization coefficients (lambda), i.e. values falling more than two standard deviations from the mean of a normative sample, were associated with a delay in lexical and grammatical development, especially after LHD. In addition, cortical-subcortical-periventricular lesions rather than solely periventricular damage, and larger lesions rather than small, were associated with the most atypical lateralization coefficients, irrespective of lesion side. Results of this study suggest that language and lateralization data are closely related and that reallocation of language functions in alternative regions of the brain has a cost in terms of a slow rate of language acquisition.

Brain Diseases↗
PubMed2004

Anti-brain but not celiac disease antibodies in Landau-Kleffner syndrome and related epilepsies.

The Landau-Kleffner syndrome, the continuous spikes-waves during slow sleep syndrome and the benign epilepsy of childhood with rolandic spikes are rare childhood epilepsies with unknown etiology. Improvement in patients treated with immunoglobulin suggests an involvement of the immune system. We provide immunohistochemical evidence of autoantibodies against rat brain auditory cortex, brainstem and cerebellum, in children suffering with one or more of these syndromes. Only 1/14 patient was celiac.

Adolescent↗
PubMed2004

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22.

The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named "22q13.3 deletion syndrome." We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for "22q13.3 deletion syndrome" was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA-299D3 and RP5-925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient.

Abnormalities, Multiple↗
PubMed2004

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

We describe clinical and muscle magnetic resonance imaging (MRI) findings in 11 cases (three familial and eight sporadic) with the form of spinal muscular atrophy characterised by predominant involvement of the lower limbs with weakness of the proximal and distal muscles and marked atrophy of the distal leg and foot muscles. All patients presented at birth with talipes, which were in extension in seven of the 11. Arm muscle and function were preserved and lower limbs appeared to be disproportionately shorter compared to trunk and upper limbs. Functional abilities were markedly affected and only one of the 11 is able to walk independently for long distances, while six require support of crutches and two use callipers for walking. One child lost ambulation following a fall. The course of the disease is relatively stable and the progression of disability appeared to be related mostly to increased contractures rather than to loss of muscle strength. Respiratory and cardiac function were well preserved. A neurogenic disorder was suggested by electromyography and/or muscle biopsy in all patients, while motor nerve conduction was consistently normal. Muscle MRI of the thighs revealed diffuse atrophic appearance with relative hypertrophy of the adductor longus and of the semitendinosus. Genetic studies excluded the involvement of the survival motor neuron gene but none of these families was sufficiently informative to study linkage to the locus on chromosome 12q23-q24 previously found to be involved in patients with similar phenotype. In our experience this form of spinal muscular atrophy affecting predominantly the lower limbs is a relatively common form and should be considered in the differential diagnosis of infants with talipes and weakness in the lower limbs. The identical clinical and imaging features of the sporadic and familial cases suggest that these cases are likely to be affected by the same condition.

Adolescent↗
PubMed2004

Brain lactic alkalosis in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related microangiopathy. We report brain imaging and proton (1H) and phosphorus-31 (31P) magnetic resonance spectroscopy (MRS) findings during the first year after birth in two patients. In patient 1 the evolution of brain metabolite ratios and intracellular pH obtained from serial 1H (long TE) and 31P MRS studies are described; in patient 2 a single 1H (short TE) MRS study is described. Imaging findings included basal ganglia calcifications, cerebral atrophy, and leukodystrophy. The MRS results demonstrated that Aicardi-Goutières syndrome is associated with reduced NAA/Cr, reflecting decreased neuronal/axonal density or viability, increased myo-inositol/Cr, reflecting gliosis or osmotic stress and a persisting brain lactic alkalosis. A brain lactic alkalosis has also been observed in those infants surviving perinatal hypoxia-ischaemia but with a poor neurodevelopmental outcome. A possible mechanism leading to brain alkalosis is up-regulation of the Na+/H+ transporter by focal areas of ischaemia related to the microangiopathy or by pro-inflammatory cytokines. Such brain alkalosis may be detrimental to cell survival and may increase glycolytic rate in astrocytes leading to an increased production of lactate.

Alkalosis↗
PubMed2003

General movements detect early signs of hemiplegia in term infants with neonatal cerebral infarction.

Background. Studies have reported that infants with hemiplegia of congenital origin may have a period between birth and up to 12 months when clinical signs of hemiplegia are not evident. The aim of this study was to establish whether the assessment of general movements (GMs) may help in the earlier detection of signs of hemiplegia. Subjects and Methods. Eleven infants with cerebral infarction on brain MRI, and eleven normal controls were enrolled in the study. Quality of GMs was assessed from videotapes between 3 and 6 weeks and between 9 and 16 weeks. Neurological outcome was evaluated at least at two years. Results. Seven of the 11 infants had an assessment performed between 3 and 6 weeks: abnormal GMs were observed in all the infants who developed hemiplegia, but one child had abnormal GMs and a normal outcome. All 11 infants had a scorable assessment between 9 and 16 weeks. In all a specific type of GMs, fidgety movements (FMs), were predictive of neurological outcome. The presence of early asymmetries at both 3 - 6 and 9 - 16 weeks was also significantly associated with later signs of hemiplegia. Conclusions. The assessment of GMs after the neonatal period appears to be very useful in the early identification of hemiplegia in infants with cerebral infarction. Whilst the prediction of hemiplegia should be possible from early neonatal MRI brain scans, this facility is not always available. Observation of GMs is a bedside clinical approach that allows confirmation of early prediction from MRI, early rehabilitation if needed and reassurance that neurological outcome will be good where that is appropriate.

Cerebral Infarction↗
PubMed2002

Immunohistochemical study of muscle biopsy in children with cerebral palsy.

Muscle biopsy was examined in 20 children with cerebral palsy, using immunohistochemical methods for marker of denervation neural cell adhesion molecules (N-CAM) in addition to standard techniques. Histological and histochemical study showed mild myopathic changes, type 1 predominance, and type 1 and type 2 hypotrophy, in accord with previous observations. Immunohistochemical study showed N-CAM expression in most biopsies (15/20), usually in scattered fibers, whereas in four patients aged less than 6 years it was expressed in grouped fibers. Our study supports the hypothesis of motor unit remodeling as a consequence of spasticity, especially in early phases of the disease.

Adolescent↗
PubMed2002

[The neonatal behavioral observation: a pertinent source of medical informations].

The neonatal behavioral observation is an important source of medical information in three domains: 1) assessment of development which can be done with the Assessment of Preterm Infant Behavior, 2) assessment of pain with the analysis of facial expression using validated pain scales such as the Neonatal Facial Coding System, 3) assessment of brain injuries with the Quality Assessment of General Movements. Such a behavioral observation of the newborn using validated tools is a useful complement of the neuro-imaging techniques.

Child Development↗
PubMed2002

Visual function and EEG reactivity in infants with perinatal brain lesions at 1 year.

The aim of this study was to examine the correlation between EEG, visual, and brain MRI findings in 19 term infants with perinatal brain lesions. All 19 had their visual acuity and visual fields assessed and had an EEG and a brain MRI performed at 1 year of age. Four of the five infants with normal optic radiations and occipital cortices on MRI had normal vision. Involvement of optic radiations and occipital cortices was only associated with visual abnormalities in eight of 14 infants. The correlation between visual abnormalities and EEG findings was stronger. All infants with a completely normal EEG from the posterior regions had normal vision and all those with an EEG non-reactive to eye closure had visual abnormalities, irrespective of MRI data. A reactive EEG with other abnormal features (such as spikes, rapid or slow activities) was accompanied by abnormal vision in five of eight participants. Results suggest that there is a better correlation between visual function and EEG activity than between visual function and involvement of the classical visual areas of the occipital cortex and optic radiations on brain MRI at 1 year of age.

Action Potentials↗
PubMed2002

The early markers for later dyskinetic cerebral palsy are different from those for spastic cerebral palsy.

Qualitative abnormalities of spontaneous motor activity in newborns and young infants are early predictive markers for later spastic cerebral palsy. Aim of this research was to identify which motor patterns may be specific for later dyskinetic cerebral palsy. In a large, prospectively performed longitudinal study involving four European hospitals we identified twelve cases with the relatively rare condition of dyskinetic cerebral palsy and compared their early motor development with twelve spastic cerebral palsy cases and twelve controls. From birth to the fifth month post-term, all infants were repeatedly videoed and their spontaneous motor patterns, including general movements, were assessed. Until the second month post-term, the infants that later became dyskinetic displayed a poor repertoire of general movements, "arm movements in circles" and finger spreading. Abnormal arm and finger movements remained until at least five months and were then concurrent with a lack of arm and leg movements towards the midline. Later dyskinetic infants share with later spastic infants the absence of fidgety movements, a spontaneous movement pattern that is normally present from three to five months. Qualitative assessment of spontaneous motor patterns enabled us to identify infants at high risk for dyskinetic cerebral palsy early in life. Additionally, we were able to discriminate them from those infants at high risk for later spastic cerebral palsy. This is a matter of significant clinical relevance because the two types of cerebral palsy ask for different management and early intervention.

Biomarkers↗
PubMed2001

Preterm infants prefer to be awake at night.

Wakefulness distribution during a 24-h period was studied in ten low-risk preterm and near term infants through video-recording. The highest amount of wakefulness was found in the night-time period between 02:00 and 05:00 h. This result is different from what was observed in infants during the first year of life, and similar to what was found in the foetus.

Aging↗
PubMed2001

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism. A homozygous G-A transition at nucleotide position 9297, converting a tryptophan codon (TGG) to a stop codon (TAG) at residue 149 (T149X), resulted in undetectable cDNA, as investigated by reverse-transcription PCR, as well as in undetectable AGAT activity, as investigated radiochemically in cultivated skin fibroblasts and in virus-transformed lymphoblasts of the patients. The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities. Recognition and treatment with oral creatine supplements may prevent neurological sequelae in affected patients.

Amidinotransferases↗
PubMed2001

Reorganisation of the sensorimotor cortex after early focal brain lesion: a functional MRI study in monozygotic twins.

Sensorimotor cortical reorganization after early brain lesions was studied by means of fMRI in two pairs of monozygotic twins, in each of which one member had a focal brain injury. This offered a unique opportunity to reduce the wide intersubject variability of the controls often found in similar studies. Activation images were acquired during a motor task (sequential opposition finger movements) and a sensory task (passive brushing of palm and fingers). During the tasks with the recovered hand, constant findings in the lesioned subjects were the activation of the undamaged areas adjacent to lesion site and the activation of the ipsilateral sensorimotor cortex. Bilateral activation of the primary sensorimotor cortex was never observed in the healthy co-twin controls.

Aging↗