[Show abstract][Hide abstract] ABSTRACT: Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome's typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages. No data are available on effective treatment options for breathing abnormalities of Pitt-Hopkins syndrome. The authors polygraphically documented a reduction of apneic and hypopneic phenomena, with a significant improvement in saturation values, after the introduction of sodium valproate.
Journal of child neurology 02/2012; · 1.59 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newborns. Seventy-four subjects died during hospital stay. Seizures were present in 35 neonates, in whom the mortality rate was 37.1%. Multivariate analysis revealed that birth-weight <1000 g (odds ratio: 4.48; 95% confidence interval: 1.47-13.68; P < .01), cardiopulmonary resuscitation (odds ratio: 5.35; 95% confidence interval: 1.19-23.98; P = .02), and moderately and severely abnormal cerebral ultrasound scan findings (odds ratio: 2.48; 95% confidence interval: 1.02-6.05; P < .04; odds ratio: 9.56; 95% confidence interval: 3.45-26.51; P < .01, respectively) were related to the in-hospital mortality but not the presence of neonatal seizures. Our study suggests that neonatal seizures alone are not an independent risk factor for early death in very preterm newborns.
Journal of child neurology 02/2012; 27(10):1264-9. · 1.59 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Hypoxic-ischemic encephalopathy (HIE) is one of the most frequent causes of neonatal death or neurological handicaps such as cerebral palsy, mental delay, and epilepsy. Moreover, an acute consequence of HIE are neonatal seizures which can cause an additional brain damage. The neurodevelopmental outcome is known in the mild or severe cases of HIE, but in the moderate conditions the predictivity results, to date, unsatisfying.
The purpose of this prospective study was to appraise the development of post-neonatal epilepsy in a cohort of term infants with moderate HIE and neonatal seizures.
This study considered all newborns admitted to Neonatal Intensive Care Unit of the University of Parma between January 2000 and December 2002 for perinatal asphyxia, then followed by Neonatal Neurology Service. In all patients, neonatal variables such as type of delivery, birth weight, gestational age, Apgar scores, the need for resuscitation and assisted ventilation soon after birth, and arterial-blood pH were analyzed.
Ninety-two newborns were enrolled in the study because of perinatal asphyxia. Of these, 27 subjects developed mild HIE, 25 moderate, and five severe HIE. Neonatal seizures were present in 13 subjects with moderate HIE and in all newborns with severe HIE. At the last follow-up, only three infants belonging to patients with severe HIE developed epilepsy.
Moderate HIE seems not to be related to post-neonatal epilepsy either if associated or not with neonatal seizures.
Brain & development 06/2008; 31(1):64-8. · 1.74 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Neonatal electroencephalographic background activity has been found to be a predictive factor of the neurodevelopmental outcome. The aim of our study was to identify if the electrical ictal findings present on the first electroencephalography (EEG) recording are related to the outcome of newborns with neonatal seizures. The study is based on the prospective evaluation of newborns consecutively admitted to the Neonatal Intensive Care Unit at the University of Parma between September 2001 and September 2004. Thirty-eight subjects were enrolled in the study on the basis of the following inclusion criteria: presence on the first EEG of at least 1 seizure, neurodevelopmental follow-up until 18 months of corrected age, and performance of several ultrasound brain scans during the neonatal period and of at least 1 cerebral MRI within the first year of life. For each seizure, the following were considered: onset topography, morphology of the epileptiform discharges, spread of the discharge, number of electrographic regions of seizure onset, number of seizures per hour, duration of the seizures, and the Ictal Fraction (= total duration of the seizures/duration of the EEG recording x hour). At the last follow-up, the unfavorable neurodevelopmental outcome seems significantly related to the moderate/severe background activity abnormalities (p = .006), to the spread of ictal discharge to the contralateral hemisphere (p = .02), and to the Ictal Fraction, when it exceeds 10 minutes (p = .036). In conclusion, the analysis of the propagation of the ictal discharge and of the Ictal Fraction might suggest significant prognostic information since the first hours of life.
Journal of Child Neurology 05/2008; 23(4):394-8. · 1.39 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Little is known about the clinical evolution and neurologic sequelae of transient periventricular echodensities in the neonatal period. The aim of our study was to assess the neurodevelopmental outcome in preterm infants with transient periventricular echodensities. Cerebral ultrasonography was performed within the first 72 hours of life on all preterms with a < or = 37 weeks' gestational age who were admitted consecutively to the Neonatal Intensive Care Unit of the University of Parma from January 2001 to December 2002. Cerebral ultrasonography was performed at least twice within the 14th postnatal day and was repeated weekly until 40 weeks' postconceptional age. Transient aspecific echodensities were defined as areas in the periventricular region brighter than the choroid plexus persisting less than 14 days. One hundred sixty-four preterm infants were selected and divided into three groups: (1) 78 preterm infants without ultrasound abnormalities, (2) 50 preterm infants with transient periventricular echodensities, and (3) 36 preterm infants with persistent echodensities. Developmental outcome was assessed at 44 weeks' postconceptional age, after 1 month from the discharge and at the corrected ages of 3, 6, 9, and 12 months using the Griffiths Mental Developmental Scale. Group 1 and 2 infants showed normal neurodevelopment in 88.5% and 94% of cases, respectively, whereas the preterm infants belonging to group 3 had a favorable outcome in 22.2% (P < .001) of cases only. In conclusion, our study demonstrates how infants with transient echodensities show a neurodevelopmental outcome that is entirely identical to infants with a steadily negative ultrasound finding.
Journal of Child Neurology 03/2006; 21(3):230-5. · 1.39 Impact Factor