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Biomedical subjects

E Fazzi

Publications and source records attributed to E Fazzi.

At least 19 recordsLinked to original sources
PubMed2006

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.

Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients. Recently, [NPHP1, DEL] has been detected in three patients with Joubert syndrome-related disorders (JSRDs), who associated neurological signs with a peculiar neuroradiological malformation known as the 'molar tooth sign' (MTS). To define the frequency of JSRD spectrum in NPHP1 patients, we re-examined 56 cases with [NPHP1, DEL] and found an overall incidence of 8.9% (five out 56 patients). All had small hyperechoic kidneys and had developed advanced renal failure within 15 years. Two patients presented the complete features of JSRD with cerebello-renal-retinal association and MTS. Two others showed, instead, severe intentional tremor and thick superior cerebellar peduncles on brain magnetic resonance imaging (MRI), and one of them had associated retinopathy. The fifth patient presented with hypotonia, developmental delay, central deafness, and ataxia associated with Leber congenital amaurosis and liver fibrosis but with normal brain MRI. Marked intrafamilial variability of associated extrarenal symptoms was observed in familial cases. Deletion extension did not differ in patients with isolated renal phenotype and in those with associated neurological symptoms. In conclusion, neurological defects varying from subtle involvement of cerebellum with thickened peduncle to both JSRD and diffuse central hypotonia are frequent in [NPHP1, DEL] patients. Prevalence of such association may justify systematic neurological and neuroradiological evaluation.

Adolescent↗
PubMed2006

Rates of neonatal death and cerebral palsy associated with fetal growth restriction among very low birthweight infants. A temporal analysis.

OBJECTIVE: To assess whether changes over time in neonatal survival and infants' neurodevelopmental outcome among very low birthweight (VLBW) infants was correlated with the obstetric aetiology of VLBW. DESIGN: A cohort study of 773 VLBW infants. SETTING: A University hospital in Northern Italy. POPULATION: All the VLBW infants born over a 20-year period (1983-2002) at a single institution. METHODS: Evaluation of neonatal mortality and neurodevelopmental outcome of the surviving infants at 2 years of corrected age. Logistic regression analysis was used to compare the improvements of neonatal outcome associated with obstetric risk factors over time. MAIN OUTCOME MEASURES: The risk reduction of neonatal death or cerebral palsy associated with each obstetric category responsible for VLBW over time. RESULTS: The overall rates of neonatal mortality and cerebral palsy were 38.7% (43/111) and 17% (9/53) in the period 1983-87 and 13.7% (34/24) and 6.3% (13/205) in the period 1998-2002, respectively. The adjusted decrement per 5-year period was 33.1% (95% CI = 7.9-51.4) for neonatal death and 29.1% (95% CI = 25.3-32.7) for cerebral palsy, respectively. The adjusted rise in the rate of intact survival at 2 years of corrected age was 7.6% (95% CI = 3.1-12.3) per quinquennium. In logistic models with neonatal death or cerebral palsy as a combined outcome variable, and gestational age, corticosteroid use, surfactant use, and time of birth as explanatory variables, fetal growth restriction (P < 0.001) and pre-eclampsia (P= 0.011) interacted significantly with period of birth. The adjusted decrement in the rate of neonatal death or cerebral palsy as a combined variable was 27.5% per 5 years (95% CI = 13-39.6) in the overall population, 54.5% per 5 years (95% CI = 46.8-61.2) (P < 0.001 compared with overall population) among growth-restricted infants and 50.3% per 5 years (95% CI = 42.5-57.1) (P= 0.003 compared with overall population) in infants born to mothers with pre-eclampsia. CONCLUSIONS: Over a period of 20 years, the decrement in the rate of neonatal death or cerebral palsy was higher in growth-restricted fetuses than in other VLBW infants. This reduction was not obtained at the expense of an increased rate of neurodevelopmental impairments in surviving infants.

Cerebral Palsy↗
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

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.

Abnormalities, Multiple↗
PubMed2000

Developmental sequence of postural control in prone position in children with spastic diplegia.

The aim of this study was to assess the development of postural control in the prone position in children with spastic diplegia and triplegia, and determine the influence of clinical characteristics, visual acuity and cognitive performance on that development. We also analysed the relation between these early motor achievements in the prone position and the subsequent acquisition of motor competence in the sitting position. We followed 24 diplegic and triplegic children from before age 2 years (mean age 12 months) to mean age 41 months, videorecording motor behaviour every six months and abstracting acquisitions in alignment and balance using a standardised procedure. We confirm a developmental sequence of all the acquired movements in the prone position. 83.3% of the children completed the uprighting sequence in the sagittal plane, acquired good balance, and ability to rotate the head and trunk. 70.8% of the children (all but one of the diplegic children and none among triplegic children) acquired symmetric posture in the frontal plane and 83.3% reduced leg hyperextension. Development was not uniform, and at 12-18 months two groups began to emerge: diplegic children who rapidly achieved all or most of the steps in the sequence and had a favourable prognosis for subsequent motor development; and triplegic children who achieved these steps at a much slower rate or in some cases not at all and had a less favourable prognosis for future development. Diplegic children with normal visual acuity, and general quotient GQ>70 did better than triplegic children with compromised visual acuity and GQ<70. Acquisition of the full uprighting sequence in the prone position before the age of two related to the later acquisition of autonomous sitting.

Cerebral Palsy↗
PubMed2000

Predictors of independent walking in children with spastic diplegia.

A prospective study was carried out to identify predictors of independent walking in 31 children with either spastic diplegia or triplegia, observed from the age of 9 to 18 months (mean, 11 months) and followed for a mean period of 30 months (range, 24 to 36 months). Mean age at most recent examination was 41 months (range, 36 to 54 months). We used an 18-item scheme to chart the acquisition, from the prone position, of prelocomotor, sitting, and locomotor skills. Examinations were conducted every 6 months and videotaped according to a standardized procedure. At latest assessment 18 (58%) of the 31 children had achieved walking, 7 (23%) independently and 11 (35%) with assistance; 13 (42%) did not achieve walking. Ambulatory status was related to developmental quotient and visual acuity: all the children who became independent walkers had normal visual acuity and in 86% of cases a normal general development quotient. Moreover, we found a significant correlation between the number of gross motor skills achieved and the rate of achievement before 2 years of age and ambulatory status at 3 to 5 years of age. Ability to put weight on the hands while prone and to roll from supine to prone position by 18 months of age were significantly related to independent walking, while ability to sit without support was predictive only at around 24 months of age.

Cerebral Palsy↗
PubMed1999

Stereotyped behaviours in blind children.

Stereotyped behaviours occur frequently in blind children. Most authors attribute stereotyped mannerisms to factors such as hospitalisation, motor limitations, and reduced capacity for exploration. There seems to be a specific association between blindness and behavioural mannerisms, such as eye pressing and eye poking, which have been observed in children with peripheral blindness. We studied the prevalence of stereotyped motor behaviours in a sample of congenitally blind children with and without other neurodevelopmental disabilities in order to assess the types and features of such stereotyped behavioural traits. Twenty-six congenitally blind children (11 male and 15 female) were assessed through videotape recording and through a questionnaire focusing on the type, frequency, form of manifestation and duration of the children's stereotyped behaviours. Stereotyped behavioural traits were observed in 19 (73%) of the patients. Stereotyped behaviours most frequently observed were body rocking (8; 30.7%), repetitive handling of objects (8; 30.7%), hand and finger movements (7; 26.9%), eye pressing and eye poking (8; 30.7%), and lying face downwards (6; 22.8%) and jumping (3; 11.4%). We found that a reduction in stereotyped behavioural traits could be obtained by stimulating appropriate adaptive behaviour in children, while these behaviours were increased by restricted environmental conditions, reduced sensory stimulation and reduced motility.

Blindness↗
PubMed1998

Preeclampsia, preterm delivery and infant cerebral palsy.

OBJECTIVE: To evaluate the association between preeclampsia and cerebral palsy among preterm infants. STUDY DESIGN: A cohort study of 345 singleton preterm (24 to 33 weeks gestation) infants delivered at an institution where no mothers received magnesium sulphate. We investigated the relationship of preeclampsia to the development of infant cerebral palsy (spastic quadriplegia, hemiplegia or diplegia) at two years' corrected age. Potential confounders were controlled for by politomous logistic regression analysis. RESULTS: The prevalence of cerebral palsy in surviving infants from normotensive and preeclamptic pregnancies was 13.4% (38/284) and 3.3% (2/61), respectively (P=0.026 by Fisher exact test). After control for potential confounders (gestational age, infant gender, birthweight standard deviation score, mode of delivery), the likelihood of infant cerebral palsy was reduced by preeclampsia (odds ratio 0.16, 95% confidence interval=0.04-0.74 for infants from preeclamptic versus normotensive pregnancies being palsied). CONCLUSION: Among preterm infants, the protective effect of preeclampsia against cerebral palsy is manifest in the absence of magnesium sulphate utilization.

Adult↗
PubMed1998

Cerebral visual impairment in periventricular leukomalacia.

Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often caused by damage to retrochiasmatic pathways. This is particularly true of subjects with damage to the periventricular white matter. Thirty-eight preterm infants with periventricular leukomalacia (PVL) diagnosed by MRI were examined to correlate binocular visual acuity with neuroradiological findings. Binocular visual acuity was evaluated using Teller Acuity Cards and a complete ophthalmological examination was also performed. Three infants with ROP III were excluded from the sample. The age of observation ranged from 20 months to 5 and a half years (mean 42 months). The possible involvement of the optic radiations and/or of the calcarine cortex was detected by brain MRI. Twenty-three infants (66%) presented visual impairment. Of these, 9 (26%) were totally or nearly totally blind and 14 (40%) were low vision children. The other 12 (34%) had normal (2) or near normal (9) vision. MRI findings correlated with visual acuity; a relationship was detected between the degree of visual acuity and the reduction of the peritrigonal white matter, and also between the degree of visual acuity and the extent of calcarine atrophy. This report clearly establishes a relationship between visual impairment and specific MRI findings in children with PVL. Teller Acuity Cards and MRI are useful for detecting potential visual impairment and for improving both the clinical diagnosis of these disorders and the therapeutic approach to these subjects.

Atrophy↗
PubMed1998

Transient nystagmus in delayed visual maturation.

Two infants who presented with wide-amplitude and high-frequency nystagmus and lack of visual awareness in the first 3 months of life were studied. No ocular abnormalities were found. Neurodevelopmental examination, visual evoked potentials and electroretinograms were normal. One infant underwent MRI which resulted in normal findings. Two months later both patients showed increased visual responsiveness and a gradual reduction of the nystagmus amplitude. By 5 months of age nystagmus was no longer detectable and both infants appeared to be visually, developmentally, and neurologically normal. Follow-up at 3 years of age for subject 1 and at 11 months for subject 2 showed that both the infants maintained the normal ophthalmological and neurological assessments. We diagnosed delayed visual maturation with oculomotor involvement.

Brain↗
PubMed1997

Antenatal and delivery risk factors simultaneously associated with neonatal death and cerebral palsy in preterm infants.

To evaluate the simultaneous effects of antenatal and delivery risk factors on neonatal death and cerebral palsy in preterm infants, we conducted a cohort study of 363 singleton pregnancies delivered between 24 and 33 weeks gestation. Neurodevelopmental outcome of the infants was evaluated at 2 years of corrected age. Risk factors associated with death or cerebral palsy were analysed by politomous logistic regression. Overall, the mortality rate was 14.6% (53/363) and the prevalence of cerebral palsy among surviving infants was 12.3% (38/310). Decreasing gestation and meconium-stained amniotic fluid were the only antenatal factors associated with increased odds for both death and cerebral palsy. The effect magnitude and the predictive value of gestational age were greater for death than for cerebral palsy. After adjustment for confounders, prolonged (> or = 48 h) rupture of membranes (odds ratio 2.98, 95% confidence interval 1.12-7.96) and male sex of the infant (odds ratio 3.01, 95% confidence interval 1.32-6.71) were significantly associated only with cerebral palsy. We conclude that neonatal death and cerebral palsy share few common antenatal risk factors. The characteristics of antenatal risk factors for cerebral palsy suggest that bacterial infestation of the amniotic cavity may be implicated in the etiology of the cerebral impairment.

Birth Weight↗
PubMed1997

Cerebral cavernous angiomas: an atypical case in infancy.

Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birth-weight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed.

Brain Neoplasms↗
PubMed1997

Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants.

OBJECTIVE: To estimate the risk for cerebral palsy in preterm infants in relation to the presence of meconium in the amniotic fluid (AF). METHODS: A cohort study was conducted of 404 consecutive preterm infants delivered between 24 and 33 weeks' gestation at a single institution. Sociodemographic and clinical data were collected at birth. The diagnosis of cerebral palsy was made at 2 years' corrected age. Politomous logistic regression models were used to evaluate the odds for cerebral palsy while adjusting for potential confounders. RESULTS: The overall prevalence of cerebral palsy among survivors was 11.6% (40/345). The cerebral palsy rate was 41.2% (7/17) among infants who were meconium-stained at birth and 10% (33/328) among those who were not (P = .006 by Fisher exact test). After adjustment for potential confounders (gestational age and fetal gender), the odds ratio of cerebral palsy among infants delivered to women with meconium-stained AF was 6.9 (95% confidence interval 2.32, 20.81, P = .001) relative to those delivered to women with clear AF. CONCLUSION: The results of the present study support the view that the presence of meconium in the AF is a gestational age-independent risk factor for cerebral palsy among preterm infants.

Amniotic Fluid↗
PubMed1997

Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.

We describe the long-term development of 53 very low birth weight premature infants. The children were divided into 2 groups on the basis of ultrasound scan, and classified as: group I, patients with normal ultrasound scan or with uncomplicated hemorrhage; and group II, patients with complicated hemorrhage or only parenchymal lesions. Minor and major sequelae detected at 2 years of age were compared with those observed at 5 to 7 years. Our study confirms that most severely handicapped children are identified by age 2 years. Minor sequelae are more evident at 5 to 7 years and subjects with good outcome, as expressed by a McCarthy General Cognitive Index score > 80, present a discordant cognitive profile with verbal scores higher than performance scores. Therefore, we emphasize the importance of follow-up of very low birth weight premature infants until school age and stress that neonatal ultrasound scan diagnosis of parenchymal damage represents an important diagnostic tool in terms of both short- and long-term neurodevelopmental outcome.

Brain↗
PubMed1997

Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration.

PURPOSE: To investigate signal alterations in the thalamic lateral geniculate bodies of blind patients compatible with transsynaptic degeneration of these nuclei caused by pregeniculate or postgeniculate interruption of the visual pathway. METHODS: Six patients were selected from a group of blind children in our care. Four had cerebral palsy caused by periventricular leukomalacia, one had infantile neuroaxonal dystrophy, and one had Chiari I malformation and hydrocephalus, which was worsened by bilateral ischemic lesions of the occipital lobes. MR examinations (obtained at 0.5 T) were reviewed retrospectively by two neuroradiologists, with particular attention to the visual pathway. RESULTS: Symmetric, focal areas of T2 prolongation were found at the precise site of the lateral geniculate bodies. CONCLUSION: Anterograde (pregeniculate) and retrograde (postgeniculate) transsynaptic degeneration of the second neurons of the visual pathway produce alterations in MR signal.

Arnold-Chiari Malformation↗
PubMed1996

Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

Adult↗
PubMed1996

Cerebral visual impairment in periventricular leukomalacia: MR correlation.

PURPOSE: To evaluate the involvement of central visual pathways in cases of periventricular leukomalacia, and to correlate the neuroradiologic findings with the degree of visual acuity. METHODS: The MR brain examinations of 27 preterm children affected by cerebral palsy resulting from periventricular leukomalacia and without significant ophthalmologic lesions were reviewed retrospectively to search for possible involvement of the optic radiations and/or of the calcarine cortex. The data were compared with the degree of visual acuity estimated by means of the Teller Acuity Cards test. RESULTS: Seventeen (63%) of the 27 patients had cerebral visual impairment, which correlated strongly with MR lesions. Quantitative reduction and signal hyperintensity of the peritrigonal white matter and atrophy of the calcarine cortex were present in the more severe cases. In two blind patients, an altered MR signal was detected in the lateral geniculate bodies. CONCLUSION: This study clearly establishes a relationship between specific MR findings and visual impairment in children with periventricular leukomalacia. The finding of hyperintensity in the lateral geniculate bodies was interpreted as an axonal reaction. MR imaging is useful for detecting potential visual impairment and for improving clinical diagnosis.

Atrophy↗