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Biomedical subjects

E Mercuri

Publications and source records attributed to E Mercuri.

At least 91 records · Page 5Linked to original sources
PubMed1999

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

The aim of the study was to evaluate whether children with merosin-positive or merosin-deficient congenital muscular dystrophy (CMD) show any cognitive impairment and whether this is related to brain abnormalities on magnetic resonance imaging (MRI). Twenty-two patients (age range: 5.8-15.3 years) were assessed by the Wechsler Intelligence Scales. Twelve were merosin-positive and ten merosin-deficient. One child had severe mental retardation and could not be tested. The full scale IQ in the remaining 21 ranged from 51 to 134, the verbal IQ ranged from 78 to 136 and the performance from 51 to 136. Of the twelve children with normal merosin one had a mild delay (IQ < 75) and two were borderline (IQ 75-95). Of the ten children with merosin-deficiency, one showed severe mental retardation and could not be tested, one showed a mild delay and two had borderline results. While the children with merosin deficiency with the typical diffuse white matter changes on MRI had normal scores, the children who in addition had cerebellar hypoplasia had lower performance IQ. The child with cortical dysplasia had severe mental retardation. Our results suggest that the spectrum of cognitive abilities in CMD is very wide even within genetically homogeneous conditions.

Adolescent↗
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

Congenital hemiplegia in children at school age: assessment of hand function in the non-hemiplegic hand and correlation with MRI.

The aim of this study was to evaluate whether children with congenital hemiplegia show abnormal hand function on the non-hemiplegic side and whether this, if present, can be related to the type and extent of brain lesions on MRI. Twenty-two children with congenital hemiplegia of age ranging between 4.8 and 12.3 years, were assessed with a clinical and MRI assessment. Clinical assessment included a structured neurological examination, assessment of hand grips and the Movement Assessment Battery for Children which also includes one item assessing speed and accuracy in each hand. The results showed that 64% of the children studied showed some degree of functional impairment of the non-hemiplegic hand. Manual dexterity 1 from the Movement ABC was, in our experience, a more sensitive tool to detect minor functional abnormalities than the evaluation of hand grips. The severity of the impairment on the non-hemiplegic side was not significantly related to the severity of impairment in the hemiplegic hand (p > 0.05). In contrast, a significant association was found with the site of lesions as hand function in the non-hemiplegic hand was always normal in children with unilateral lesion and abnormal in the ones with bilateral parenchymal lesions (p < 0.05). Children with predominantly unilateral lesions but with bilateral ventricular dilatation or periventricular changes showed more variable results.

Brain↗
PubMed1999

Neonatal neurological examination in infants with hypoxic ischaemic encephalopathy: correlation with MRI findings.

Neurological examination and magnetic resonance imaging were performed in the neonatal period in 58 full-term infants who presented with hypoxic-ischaemic encephalopathy. The aim of this study was to evaluate the patterns of neurological abnormalities and their correlation to brain lesions on MRI. The prognostic value of the neurological examination performed at different times in the neonatal period was also evaluated. Our results showed that specific clinical patterns can be observed in infants with HIE and these can be related to the pattern of lesion on brain MRI. In particular, while infants with normal MRI or minimal changes tend to show only minor tone abnormalities after the first week of life, infants with more severe lesions such as basal ganglia lesions show persistent and diffuse neurological abnormalities. Infants with white matter changes but intact basal ganglia show a different clinical pattern with improved sucking reflex and behaviour and less severe tone abnormalities. Our results also suggested that the neurological examination performed after the second week of life is a reliable indicator of outcome in these infants.

Asphyxia Neonatorum↗
PubMed1999

Impaired grip-lift synergy in children with unilateral brain lesions.

Children with spastic hemiplegia have impaired dexterity in the affected extremity. The purpose of the present study was to investigate whether the force co-ordination pattern during precision grip in 13 children between 4 and 10 years of age with predominant unilateral brain lesions is related to manual dexterity and to the location and size of the brain lesion. The force co-ordination pattern was investigated by means of a specially designed object that monitored the isometric fingertip forces applied to the contact surfaces during precision grip. Hand function was measured by means of neurological examination, functional hand-grips and dexterity. Brain lesions were identified by series of ultrasound and MRI scans. Normally, the fingertip forces are applied to the object in the initial phase of the lift in an invariant force co-ordination pattern (i.e. grip-lift synergy), in which the grip and load forces are initiated simultaneously and increase in parallel with unimodal force rate trajectories. A majority of children with unilateral brain lesions had not developed the force co-ordination pattern typical for their age, but produced an immature or a pathological pattern. The developmental level of the grip-lift synergy was determined and quantified according to criteria derived from earlier studies on normally developed children. There was a clear relationship between the developmental level of the grip-lift synergy and impaired dexterity, indicating that proper development of the force co-ordination pattern is important for skilled hand function. The grip-lift synergy correlated with the total extent of lesions in the contralateral cortex and white matter and with lesions in the thalamus/basal ganglia, while no correlation was found for isolated cortical lesions. The results suggest that the neural circuits involved in the control of the precision grip are organized in a parallel and distributed system in the hemispheres, and that the basal ganglia are important during the formation of these circuits. Perinatal lesions in specific cortical motor areas may be compensated for by circuits elsewhere in the grip-lift motor system, while large lesions exclude this possibility.

Brain↗
PubMed1999

Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A.

A 5 year old boy developed severe weakness after receiving vincristine for treatment of acute lymphoblastic leukaemia. Although weakness improved after the discontinuation of vincristine, other symptoms suggestive of a neuropathy persisted. Neurophysiological and genetic analysis at age 8 years indicated that vincristine had induced symptoms of a hereditary sensory motor neuropathy type 1A, which had previously been asymptomatic; his genetically affected mother was also asymptomatic.

Antineoplastic Agents, Phytogenic↗
PubMed1999

Visual function in term infants with hypoxic-ischaemic insults: correlation with neurodevelopment at 2 years of age.

AIMS: To determine if there is any association between the findings of visual assessment performed at the age of 5 months and neurodevelopmental outcome at the age of 2 years in children who have sustained hypoxic-ischaemic insults. METHODS: Twenty nine term infants with hypoxic-ischaemic encephalopathy and/or brain lesions on neonatal magnetic resonance imaging (MRI) were prospectively evaluated. At 5 months of age all the infants had their visual function assessed using the Atkinson Battery of Child Development for Examining Functional Vision, which includes the assessments of optokinetic nystagmus (OKN), acuity, visual fields, fixation shift and phase and orientation reversal visual evoked potentials. At 2 years of age the children had a structured neurological evaluation and a Griffiths developmental assessment. RESULTS: There was good correlation between the extent of the early detected visual impairment and both neuromotor and global development. Children with more than three out of five abnormal visual tests at 5 months of age tended to have abnormal neurological examination results and abnormal developmental quotients. Children with three or fewer abnormalities tended to have developmental quotients in the normal range; the level of their performance, however, was still related to the number of visual tests passed. CONCLUSIONS: Individual visual tests can provide important prognostic information. While abnormal OKN and acuity were always associated with abnormal outcome, normal results on visual evoked potentials and fixation shift tended to be associated with normal outcome.

Brain↗
PubMed1999

Early prognostic indicators of outcome in infants with neonatal cerebral infarction: a clinical, electroencephalogram, and magnetic resonance imaging study.

OBJECTIVE: The aim of this study was to identify prognostic factors in newborns with cerebral infarction. DESIGN: Antenatal and perinatal factors and early clinical, electroencephalogram (EEG), and magnetic resonance imaging (MRI) findings were compared with neurodevelopmental outcome in 24 children with evidence of cerebral infarction on neonatal MRI. RESULTS: Out of 24 infants, 19 had an infarction in the territory of a major cerebral vessel and 5 in the borderzone between cerebral arteries. Neuromotor outcome was normal in 17 and abnormal in 7 infants. Of these 7 infants, 5 infants showed a definite hemiplegia, whereas the other 2 showed some asymmetry of tone or function but no definite hemiplegia. None of the adverse antenatal or perinatal factors was significantly associated with abnormal outcome. Neonatal clinical examination was also not always predictive of the outcome. The extent of the lesion on MRI was a better predictor. In particular, it was the concomitant involvement of hemisphere, internal capsule and basal ganglia that was always associated with an abnormal outcome whereas the involvement of only one or two of the three tended to be associated with a normal outcome. EEG was also very helpful. Abnormal background activity either unilateral or bilateral was found in 6 infants and 5 out of 6 developed hemiplegia. In contrast, the presence of seizure activity in presence of a normal background was not related to abnormal outcome. CONCLUSIONS: Early MRI and EEG can help to identify the infants with cerebral infarction who are likely to develop hemiplegia.

Cerebral Infarction↗
PubMed1998

An optimality score for the neurologic examination of the term newborn.

We describe the application of a revised version of the Dubowitz neurologic examination of the newborn in 224 low-risk, term newborn infants. The method has been updated by eliminating less useful items and including new items evaluating general movements and patterns of distribution of tone. An optimality score is included to make the evaluation more quantitative and for comparison with sequential examinations with neurophysiologic and imaging findings. The score is based on the distribution of the scores for each item in the population of low-risk term infants. We defined not only the most common pattern for each item but also the variability of the findings by using 10th and 5th centiles. Because most of the items assessing tone and the Moro reflex varied with gestational age between 37 and 42 weeks, the changes were incorporated in the scoring system. The total optimality score was the sum of the optimality scores of individual items. Although the association of 4 or more deviant scores was found in less than 10% of our infants, deviant results on 1 or 2 single items could be observed in a third of this normal population, suggesting that isolated deviant signs have little diagnostic value. In contrast, an abnormal distribution of tone patterns, which we have commonly observed in infants with brain lesions, was not found in this cohort.

Arm↗
PubMed1998

Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.

This study evaluates whether abnormalities of visual function are present in children with congenital muscular dystrophy and whether these, if present, are associated with merosin status or magnetic resonance imaging (MRI) findings. Twenty children (age range 5-17 years) with a diagnosis of classical congenital muscular dystrophy were assessed on visual acuity, stereopsis, and visual fields and the results compared with merosin status and MRI findings. Visual-evoked potential results were available for 14 of 20 children. All 20 children revealed normal results on all the clinical tests assessing visual function, irrespective of their merosin status or of MRI findings. Visual-evoked potentials were normal in the children with merosin-positive congenital muscular dystrophy but were abnormal in those with merosin deficiency. Unlike the other forms of congenital muscular dystrophy, which are associated with structural brain changes and eye involvement, visual function was always normal in the classical form of congenital muscular dystrophy. Interestingly, visual function was normal also in the group of children with merosin-deficient congenital muscular dystrophy who manifested white matter changes involving the occipital lobes on MRI and abnormal visual evoked potentials. Further studies are needed to specify the nature of the white matter changes observed with MRI and the reason for the dissociation between clinical and neurophysiologic findings.

Adolescent↗
PubMed1998

Orientation-reversal and phase-reversal visual evoked potentials in full-term infants with brain lesions: a longitudinal study.

The onset and maturation of visual cortical mechanisms can be recorded by using steady-state visual evoked potentials. The aim of this study was to evaluate and compare orientation-reversal (OR) and phase-reversal (PH) VEP as indicators of the maturation of cortical function in a population of fullterm infants with brain lesions on neonatal MRI. Forty-six infants with brain lesions on neonatal MRI were tested on both PH and OR VEP at 8 reversals/second at the age of 5 months and, if the responses were not significant, at a lower temporal frequency (4 reversals/second). Children whose VEPs were not significant at 5 months were tested longitudinally at 6, 9, 12 and 18 months. The results showed that 23 of the 46 infants (50%) did not show significant responses at 5 months and that while in 7 of the 23 (14% of the whole cohort) the responses became significant between 5 and 12 months, in the other 16 infants (34%) the VEP responses were persistently abnormal. Children with focal lesions, such as focal infarction or haemorrhages, tended to show normal or only mildly delayed VEP while more generalised lesions, such as the ones seen in infants with hypoxic-ischaemic encephalopathy grade 2 and 3, tended to be associated with abnormal VEP responses. The involvement of the optic radiations and occipital cortex was not always associated with abnormal VEP responses but the concomitant involvement of the basal ganglia was always associated with abnormal VEP. We were also able to demonstrate that VEP can be also used as a prognostic indicator: while normal OR VEP are reliably associated with a normal visual and neurodevelopmental outcome, abnormal 4 OR or 8 PH at 5 months are consistently associated with abnormal outcome.

Brain Diseases↗
PubMed1998

Incidence of cranial ultrasound abnormalities in apparently well neonates on a postnatal ward: correlation with antenatal and perinatal factors and neurological status.

AIM: To evaluate cranial ultrasonography and neurological examination in a cohort of infants regarded as normal; and to determine the prevalence of ultrasound abnormalities and any potential association with antenatal or perinatal factors or deviant neurological signs. METHODS: Cranial ultrasound findings and neurological status were evaluated in 177 newborns (gestational age 36.3 to 42 weeks), admitted to a postnatal ward directly after birth and regarded as normal by obstetric and paediatric staff. The age of the infants at the time of examination ranged between 6 and 48 hours. Ultrasound abnormalities were present in 35 of the 177 infants studied (20%). Ischaemic lesions, such as periventricular and thalamic densities were the most common finding (8%), followed by haemorrhagic lesions (6%). The possible sequelae of antenatal haemorrhages, such as focal ventricular dilatation or choroid cysts, were present in 6%. Abnormal ultrasound findings were not significantly associated with signs of perinatal distress, such as cardiotocographic abnormalities or passage of meconium. Abnormal ultrasound findings tended to be associated with antenatal problems, although this did not reach significance. Ultrasound abnormalities were strongly associated with deviant patterns on the neurological examination. CONCLUSIONS: These results suggest that ultrasound abnormalities are more common than has been reported up to now. Lesions that could be ischaemic, such as flare densities, are seen even in the absence of any antenatal or perinatal risk factor.

Brain Diseases↗
PubMed1998

Abnormal magnetic resonance signal in the internal capsule predicts poor neurodevelopmental outcome in infants with hypoxic-ischemic encephalopathy.

OBJECTIVE: The aim of this study was to establish whether abnormal signal intensity in the posterior limb of the internal capsule (PLIC) on magnetic resonance imaging is an accurate predictor of neurodevelopmental outcome at 1 year of age in infants with hypoxic-ischemic encephalopathy (HIE). METHODS: We have examined 73 term neonates with HIE between 1 and 17 days after birth with cranial magnetic resonance imaging and related the magnetic resonance imaging findings to neurodevelopmental outcome at 1 year of age. RESULTS: All infants with an abnormal signal intensity in the PLIC developed neurodevelopmental impairment although in 4 infants with very early scans the abnormal signal was not apparent until up to 4 days after birth. A normal signal intensity was associated with a normal outcome in all but 4 cases; 3 of these infants had minor impairments and all had persistent imaging changes within the white matter. The 4th infant with a normal signal intensity on day 2 died before a further image could be obtained. The absence of normal signal predicted abnormal outcome in term infants with HIE with a sensitivity of 0.90, a specificity of 1.0, a positive predictive value of 1.0, and a negative predictive value of 0.87. The test correctly predicted outcome in 93% of infants with grade II HIE, according to the Sarnat system. Applying a Bayesian approach, the predictive probability of the test (the probability that the test would predict an outcome correctly) was distributed with a mean of 0.94 and 95% confidence limits of 0.89 to 1.0. CONCLUSION: Abnormal signal intensity in the PLIC is an accurate predictor of neurodevelopmental outcome in term infants suffering HIE.

Basal Ganglia↗
PubMed1998

Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.

Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 --> Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modify the normal restriction pattern. The mutant allele, designated as FH-Palermo-1 from the origin of the first carrier family identified, gave a specific PCR product of 109 bp clearly distinct from the product of 168 bp obtained from other alleles with a nonspecific couple of primers. This method allowed us to distinguish one positive sample mixed with up to 11 parts of normal DNA. Furthermore, the specific amplification product was characterized by a Bsm I restriction site not present in nonspecific products.

Alleles↗
PubMed1997

Cerebellar infarction and atrophy in infants and children with a history of premature birth.

BACKGROUND AND OBJECTIVE: We wished to determine the pattern of cerebellar disease in children with a history of premature birth and early ultrasound evidence of intraventricular haemorrhage and/or parenchymal lesions of the cerebral hemispheres. MATERIALS AND METHODS: MRI findings for all premature infants examined in a 3-year period (73 patients) were reviewed to determine the nature and frequency of lesions of the cerebellum and the results were correlated with clinical data. RESULTS: Six cases of unilateral cerebellar infarction were identified. These involved the posterior inferior cerebellar territory in each case (as well as other territories in two cases). A case of generalised cerebellar atrophy and three cases of unilateral cerebellar hemisphere atrophy were identified as well. In nine of these ten cases abnormalities were also seen elsewhere in the brain. CONCLUSION: The literature describes cerebellar infarction in infants and children as rare, but this study shows that it is not unusual following perinatal haemorrhagic/ischaemic anoxic injury. It is suggested that cerebellar atrophy may also occur as a result of vascular disease.

Arteries↗
PubMed1997

Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study.

We report clinical and magnetic resonance imaging findings in two young children, aged 2 years 4 months and 3 years, with Williams syndrome. Both showed a mild global delay, although their neurological examination was completely normal. Their magnetic resonance imaging, however, showed Chiari I malformation and some non-specific changes in the centrum semiovale and in the white matter posterior to the lateral ventricles. Cerebellar tonsils were displaced through the foramen magnum 8.5 and 7.5 mm respectively. Our results suggest that Chiari I malformation can also be a frequent feature in subjects with Williams syndrome even in the absence of overt neurological signs suggestive of it. Whether these children might develop acute signs later is not known at present. Further studies are needed not only to evaluate the incidence of these findings in the global population of subjects with Williams syndrome but also to identify the children who are at risk for developing acute neurological signs.

Arnold-Chiari Malformation↗