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Specchio N.,Bambino Gesu Childrens Hospital IRCCS | Trivisano M.,University of Foggia | Di Ciommo V.,Epidemiology Unit | Cappelletti S.,Unit of Clinical Psychology | And 4 more authors.
Epilepsia | Year: 2010

Purpose: To explore the clinical, electroencephalography (EEG), neuropsychological features, and prognosis of Panayiotopoulos syndrome (PS). Methods: Of 1,794 children aged between 1 and 14 years referred for the first afebrile focal seizure, between January 1992 and December 2004, 93 (5.2%) had PS according to clinical criteria. Results: Age at onset ranged from 1.1 to 8.6 years, and was earlier in children with more than one seizure. Autonomic seizures followed a stereotypical onset and progression. Emesis, pallor, or flushing was almost always among the first symptoms that usually culminated in vomiting (77.4% of patients). More than half (55%) of seizures were longer than 30 min but these did not appear to affect remission and number of seizures. Interictal EEG showed great variability, with 79.5% of patients showing spikes of variable localizations and evolution over time; 16.1% had background abnormalities only, and 5.4% had consistently normal EEG studies. Onsets in five ictal EEGs were posterior or anterior-left or right. On neuropsychological testing, IQ and subtests of Wechsler Intelligence Scale for Children-Revised (WISC-R) were within normal limits, although some minor statistically significant differences were found in arithmetic, comprehension, and picture arrangement in comparison with controls. Cumulative probability of recurrence was 57.6%, 45.6%, 35.1%, and 11.7% at 6, 12, 24, and 36 months, respectively, after the first seizure. Thirty-four (58.6%) of 59 patients treated with antiepileptic drugs continued having seizures before ultimate remission. Discussion: PS is a uniform childhood susceptibility to autonomic seizures that is related to early age of development and with excellent prognosis with regard to seizure remission and neuropsychological development. © 2010 International League Against Epilepsy. Source


Trivisano M.,University of Foggia | Specchio N.,Bambino Gesu Childrens Hospital IRCCS | Cappelletti S.,Unit of Clinical Psychology | Di Ciommo V.,Epidemiology Unit | And 4 more authors.
Epilepsy Research | Year: 2011

The objective of the study was to explore clinical, electroencephalography (EEG), neuropsychological features and prognosis of myoclonic-astatic epilepsy (MAE). Of 327 children aged between 1 and 9. years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 (5.5%) had MAE. Male significantly predominated (88.9%). Age at onset ranged from 2.3 to 4.9. years (mean 3.6. years). Median follow-up period was 6.3. years. In addition to myoclonic-astatic seizures patients had myoclonic seizures (66.7%), drop attacks (72.2%), head drops (77.8%) absences (88.9%), tonic-clonic generalized seizure (77.8%), tonic seizures (38.9%), non-convulsive status epilepticus (16.7%). Seven patients (38.9%) had an epileptic encephalopathy. At onset, interictal epileptiform and slow abnormalities were recorded, respectively, in 100% and 77.8% of patients. EEG abnormalities disappeared in all patients within 4. years since the onset. At long-term follow-up, two patients developed focal abnormalities typical of rolandic epilepsy and two patients photosensitivity. On neuropsychological testing 66.7% of patients had a normal IQ (mean 81.2 ± 17.0, range 47-105, median 84.5) after a mean period of 4.4. years since the last seizure. Sixteen out of 18 patients remitted within 3.5. years since the onset and in two patients tonic seizures persisted. MAE is generalized childhood epilepsy: although cognitive functions might deteriorate, outcome is good regarding seizures. © 2011 Elsevier B.V. Source


Giannini A.,Pediatric Intensive Care Unit | Miccinesi G.,Unit of Clinical and Descriptive Epidemiology | Prandi E.,Pediatric Intensive Care Unit | Buzzoni C.,Unit of Clinical and Descriptive Epidemiology | Borreani C.,Unit of Clinical Psychology
Intensive Care Medicine | Year: 2013

Purpose: To investigate possible psychological distress among staff after partial liberalization of visiting policies in intensive care units (ICUs). Methods: We surveyed eight Italian ICUs planning to increase daily visiting to at least 8 h. Participants completed the Maslach-Jackson Burnout Inventory and the State-Trait Anxiety Inventory before policy change (T0), after 6 months (T1) and 12 months (T2). At T0 and T2, their opinions on the new policy were solicited. Analyses were adjusted for main known confounders (age, gender, centre, educational and marital status, experience in ICU, baseline level of burnout or anxiety, and mortality rate). Results: Baseline response rate was 89 % (230/258); 198 subjects (77 %) responded at T0 and T2, whereas 184 (71 %) participated in all three phases. High burnout levels were identified in 34.5 % of participants at T0 and 42.6 % at T2 (adjusted p = 0.001). All three phases showed a predominance of high burnout among nurses (adjusted p = 0.002). State and trait anxiety scores remained stable (adjusted p = 0.100 and 0.288, respectively). Most participants viewed the change positively at T0 (doctors 81.7 %; nurses 67.7 %) and T2 (doctors 87.0 %; nurses 62.7 %). At T2, 129 participants made comments (180 positive, 136 negative). Subjects with high burnout were more likely to comment negatively (p = 0.011). Conclusions: Partial liberalization of ICU visiting policies was associated over the course of a year with a small but significant increase in staff members' burnout levels. Nonetheless, doctors and nurses viewed the policy positively, maintaining this opinion after 1 year. Negative views were strongly correlated with burnout. © 2013 Springer-Verlag Berlin Heidelberg and ESICM. Source


Trivisano M.,Bambino Gesu Childrens Hospital | Terracciano A.,Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases | Milano T.,University of Rome La Sapienza | Cappelletti S.,Unit of Clinical Psychology | And 5 more authors.
Epilepsia | Year: 2015

Nicotinic acetylcholine receptor genes are involved mainly in nocturnal frontal epilepsy. Despite extensive studies, to date, the α2 subunit did not show a strong association with this peculiar epileptic phenotype. We report CHRNA2 missense mutation in a family with benign familial infantile seizures (BFIS). TrueSeq Custom Amplicon (TSCA) sequencing approach was used to screen 10 ion channel genes in patients with idiopathic epilepsies. TSCA revealed a heterozygous single-nucleotide substitution in CHRNA2 gene (c.1126 C>T; p. Arg376Trp) that segregated in a family with BFIS; based on bio-informatics inspection, the change was predicted to be pathogenic. The investigated family includes parents and their three daughters. In affected individuals, seizures started between 6 and 24 months of age. Seizures were mainly in cluster and well-controlled. Outcome was good in all subjects. Even if nicotinic acetylcholine receptor genes are traditionally associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), this single-family description can open new possibilities in the genetic diagnosis, molecular characterization, and management of CHRNA2-related epilepsy. The pathogenic conversion of arginine 376 to tryptophan alters all of these interactions in the cytoplasmic domain, never reported to be involved in epileptogenic mechanism. Further functional tests will be necessary to strongly relate CHRNA2 mutation with BFIS phenotype. © Wiley Periodicals, Inc. © 2015 International League Against Epilepsy. Source


Aite L.,Bambino Gesu Childrens Hospital | Bevilacqua F.,Unit of Clinical Psychology | Zaccara A.,Bambino Gesu Childrens Hospital | Rava L.,Bambino Gesu Childrens Hospital | And 4 more authors.
Diseases of the Esophagus | Year: 2014

Data on the neurodevelopmental outcome of esophageal atresia (EA) survivors are scarce, controversial, and based on small samples. This is an observational prospective longitudinal study on a selected cohort of low-risk EA survivors. We considered a low-risk EA survivor a patient with the following characteristics: gestational age >32 weeks, no long gap, no genetic or chromosomic anomaly associated with neurodevelopmental delay, and no further major surgical congenital anomalies. Infants were evaluated with scales derived from the Bayley Scales of Infant and Toddler Development - 3rd Edition at 6 and 12 months, with a score of 100 considered normal for each scale. Analysis of variance was used to assess differences of cognitive and motor development. Linear regression was used to assess the impact of the following clinical and sociodemographic variables: gender, birthweight, gestational age, length of hospital stay, number of surgeries and number of esophageal dilatations during first hospitalization, days of mechanical ventilation, weight at follow up, number of surgeries and esophageal dilatations at follow up, parental age, educational level, and socioeconomic status. Thirty children form the object of the study. The mean (standard deviation [SD]) cognitive scale's score was 93.7 (7.5) and 98.2 (9.6) at 6 and 12 months, respectively (P < 0.05). The mean (SD) motor scale's score was 97.6 (9.3) and 98.0 (12.1) at 6 and 12 months, respectively (P = n.s.). Children with a body weight <5° percentile at 12 months showed a mean (SD) cognitive score significantly lower when compared with those with a body weight >5° percentile: 88.8 (6.3) and 100.5 (8.9), respectively. At 12 months, children with unemployed mothers had a mean (SD) motor score significantly lower when compared with those in the other socioeconomic classes: 87.7 (9.8) and 100.6 (12.4), respectively. In conclusion, parents of babies operated on for low-risk EA can be reassured about neurodevelopmental outcome at least up to 1 year of age. When offering a multidisciplinary follow-up program, underweight patients should deserve particular attention to promote their quality of life and support their global development. © 2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus. Source

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