45 research outputs found
Qualitative and quantitative revaluation of specific learning disabilities: a multicentric study
No full textSpecific learning disabilities are disorders that affect the instrumental skills of academic learning, leaving intact the general intellectual functioning. It is possible to distinguish: dyslexia, dysorthography, dysgraphia, and dyscalculia. The diagnosis is made according to DSMV. The aim of this study is to evaluate the implementation of Law N° 170 following a diagnosis of specific learning disabilities in children and their evolution over time
Emotional awareness and cognitive performance in borderline intellectual functioning young adolescents
No full textAccording to DSM-5 and ICD-10, borderline intellectual functioning
(BIF) should not be classified properly as a disorder. However, BIF people may
present relevant problems of adaptive functioning in several areas of daily activities,
and they seemto be more vulnerable to mental diseases. Young adolescence
may be considered a particular period for emotional information processing. The
“own and others' emotions” awareness can play a crucial role in many daily life
situations, such as decision making, interpersonal relationships, and decoding
of facial expressions. On this background, a BIF young adolescents group
underwent a neuropsychological assessment including emotional and cognitive
domains, and was compared with a healthy young adolescents control group
(HC). In the overall sample, a significant negative correlation between general intellectual
abilities and emotional awareness was found. The BIF group showed a
significantly greater level of alexithymia and a poorer performance in higher cognitive
tasks than HC group. As hypothesized, a border cognitive functioning influences
mentalization processes as ability to discriminate and monitor emotions, as
well as higher domains of cognition
Relationship between sleep quality and rhinitis in children: role of medical treatment with isotonic and hypertonic salines
No full textThe nose represents the port of entry, the first part of the upper airway and accounts for 50% of its total resistance. Many authors identified rhinitis as relevant factor affecting quality of life, and sleep habits of sufferers and their caregiver's, particularly between 4-17 years old children. Both allergic rhinitis and non-allergic rhinitis may represent an important risk for obstructive sleep apnea syndrome in children. We evaluated the quality of sleep and the role of nasal irrigations with saline solutions in children with sign and symptoms of rhinitis
Association between SCN1A gene polymorphisms and drug resistant epilepsy in pediatric patients
No full textPurpose: "Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in epilepsy. The aim of this study was to investigate if genetic polymorphisms (SNPs) of the SCN1A gene could influence the response to anti- epileptic drugs (AED) and if they could predispose to a drug resistant epilepsy in pediatric patients. Methods: We investigated SNPs in exon and intronic regions of the SCN1A gene in a sample of 120 pediatric patients, in both drug-resistant and drug-responsive patients. Association between polymorphisms and refractory epilepsy were investigated by comparing SNPs in exon and intronic regions between the two groups. The genotypes of each intronic polymorphism in the drug-resistant group was analyzed. Odds ratios and confidence intervals were calculated. Results: None of the SNPs identified in exons of the SCN1A gene were associated with drug-resistance. In the intronic regions, a statistically significant difference was found in the prevalence of three polymorphisms was found between the two patient groups (rs6730344A/C, rs6732655A/T, rs10167228A/T). The analysis of the genotypes of each intronic polymorphism in the drug-resistant group revealed that the AA and AT genotypes for the rs1962842 polymorphism are associated with an increased risk of developing drug resistance compared to TT genotype. Conclusion: The intronic rs6730344, rs6732655 and rs10167228 polymorphisms of the SCN1A gene are a potential risk factors for drug resistance. AA e AT genotype of the rs1962842 intronic polymorphism also emerged as a risk factor in the drug resistant group. Therefore, polymorphisms of the SCN1A gene could play a role in the response to AED in patients with drug-resistant epilepsy, with important implications for clinical practice
Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): An open-label, parallel group trial
No full textTo evaluate the efficacy and tolerability of levetiracetam or oxcarbazepine as monotherapy in children with newly diagnosed benign epilepsy with centrotemporal spikes (BECTS). Twenty-one children (11 males, 10 females), aged between 5 and 13 years (mean 10.5 years), and 18 (10 M, 8 F), aged between 3.3 and 14 years (mean 8.4 years), were randomised to receive monotherapy with levetiracetam or oxcarbazepine, respectively. LEV was titrated up to 20-30 mg/kg/once or twice a day, and OXC up to 20-35 mg/kg once or twice a day. Thirty-nine consecutive children (21 males, 18 females), aged between 3.3 and 14 years (mean 10.7 years), were recruited into the study. Twenty-one were randomised on LEV (11 male, 10 female; mean age 10.5 years), and 18 on OXC (10 male, 8 female; mean age 8.4 years). After a mean follow-up period of 18.5 months (range 12-24 months), 19 out of 21 patients (90.5%) on levetiracetam, and 13 out of 18 (72,22%) on oxcarbazepine did not have further seizures. Mean serum level of LEV was 4.1 μg/ml (range 1.3-9.0), and of OXC was 15.2 μg/ml (range 4.2-27.5). Adverse side effects on LEV were reported in 3 children (14.3%), represented by mild and transient decreased appetite (2) and cephalalgia (1). They were reported on OXC in 2/18 (11.1%), including headache (1), and sedation (1). These preliminary data from an open, parallel group study suggest that levetiracetam and oxcarbazepine may be potentially effective and well tolerated drugs for children with BECTS who require treatment. © 2006 Elsevier B.V. All rights reserved
Cognitive Profile, Emotional-Behavioral Features, and Parental Stress in Boys With 47,XYY Syndrome
No full textObjective: To describe (a) the observed cognitive, emotional, and behavioral phenotype in a cohort of male children with 47,XYY syndrome and (b) stress levels in their parents.Methods: We conducted a cross-sectional observational study of 11 boys diagnosed with 47,XYY syndrome and compared them with 11 age-matched boys with normal karyotype (46,XY). The participants performed standardized assessments of cognitive function, emotional state, and behavioral features; the parents completed a questionnaire evaluating parental stress. All data were analyzed using parametric and nonparametric statistical methods.Results: All of the boys exhibited a normal cognitive profile. However, emotional-behavioral profiling revealed that internalizing and externalizing problems were more prevalent in the 47,XYY group. In addition, the stress levels of the parents of the 47,XYY group were reportedly higher than those of the parents of the 46, XY group. We also found that the time of the diagnosis had an effect on the mothers' stress levels; that is, postnatal fetal 47,XYY diagnosis was associated with higher maternal stress, whereas prenatal fetal 47,XYY diagnosis was not.Conclusions: Generally, 47,XYY syndrome is associated with certain cognitive, emotional, and behavioral features. High stress levels have been reported by the mothers of 47,XYY boys who had been diagnosed postnatally because of unexpected developmental delay and/or learning difficulties. The present study highlights the need to better define the neuropsychiatric phenotype of 47,XYY children; namely, the effect of the chromosomal abnormality on their cognitive function and emotional-behavioral (internalizing and externalizing) features. This study could improve prenatal counseling and pediatric surveillance
Bone Mineral Density in Angelman Syndrome
No full textOur aim was to evaluate bone mineral densitometry in patients with Angelman syndrome with or without antiepileptic therapy. Eighteen patients (9 females, 9 males), aged 4.0-24.3 years (mean age, 10.1 years), and two control groups consisting of 18 epileptic and 24 healthy patients, underwent dual-energy x-ray absorptiometry at the lumbar spine (L1-L4), and z score was evaluated for each patient; the t score was considered for patients aged ≥18 years. Abnormal bone mineral density was present in 8/18 (44.5%) of patients with Angelman syndrome, in 7/18 (38.9%) of the epileptic group, and in none of the healthy controls. Furthermore, a significant difference regarding mean age of patients (6 versus 15 years, P = 0.008, by Fisher exact test), and mean length of drug treatment (3.5 versus 11.1 years, P = 0.005 by Fisher exact test), appeared in the group with Angelman syndrome. Most of these patients (94.4%) were receiving antiepileptic drugs, mainly valproic acid, for many years. In conclusion, our study revealed osteopenia in almost half the children and young patients with Angelman syndrome. Dual-energy x-ray absorptiometry should be performed in all patients with Angelman syndrome, particularly if they are treated with antiepileptic drugs. © 2007 Elsevier Inc. All rights reserved
Topiramate in children and adolescents with epilepsy and mental retardation: A prospective study on behavior and cognitive effects
No full textThe aim of the present study was to assess the behavioral and cognitive effects following treatment with topiramate in children and adolescents with epilepsy with mild to profound mental retardation. The study group comprised 29 children, 16 males and 13 females, aged 3 to 19 years, affected by partial (4) and generalized (25) crypto/symptomatic epilepsy and mental retardation (7 mild, 5 moderate, 15 severe, 2 profound), who were administered topiramate (TPM) as add-on therapy to their baseline antiepileptic treatment. At baseline, 3 months, 6 months, and 12 months, parents or caregivers of each patient were administered a questionnaire based on the Holmfrid Quality of Life Inventory. After a 3-month follow-up, the add-on topiramate caused overall mild to moderate cognitive/behavioral worsening in about 70% of children and adolescents with mental retardation and epilepsy. After 6 and 12 months of follow-up, global worsening persisted in 31 and 20.1% of cases, respectively. In conclusion, this trial confirms that TPM can have significant adverse cognitive and behavioral side effects, even in mentally disabled children and adolescents. © 2007 Elsevier Inc. All rights reserved
Bone Mineral Density In Children, Adolescents And Young Adults With Epilepsy.
No full textSUMMARY
Purpose: The aim of this study was to assess bone
mineral density (BMD) in a large population of
children, adolescents, and young adults with epilepsy
alone or in association with cerebral palsy
and/or mental retardation.
Methods: Ninety-six patients were enrolled in the
study. The group comprised 50 males and 46
females, aged between 3 and 25 years (mean age
11 years). The control group consisted of 63
healthy children and adolescents (23 males, 40
females), aged between 3 and 25 years (mean age
12.1 years). Patients underwent a dual-energy
x-ray absorptiometry (DEXA) scan of the lumbar
spine (L1–L4) and the z scores were calculated for
each patient; the t score was considered for
patients 18 years of age or older.
Results: Abnormal BMD was found in 56 patients
(58.3%), with values documenting osteopenia in 42
(75%) and osteoporosis in 14 (25%). A significant
difference emerged between epileptic patients
and the control group in BMD, z score, and body
mass index (BMI) (p = <0.001). Lack of autonomous
gait, severe mental retardation, long duration
of antiepileptic treatment, topiramate
adjunctive therapy, and less physical activity significantly
correlated with abnormal BMD.
Discussion: This study detected abnormal BMD in
more than half of a large pediatric population with
epilepsy with or without cerebral palsy and/or
mental retardation. The clinical significance of
these findings has yet to be clarified
Zonisamide in children and young adults with refractory epilepsy: An open label, multicenter Italian study
No full textPURPOSE: To report on the first multicenter Italian experience with zonisamide as an add-on drug for refractory generalised or partial epilepsy in children, adolescents and young adults. METHODS: The patients were enrolled in a prospective, add-on, open-label treatment study from eight Italian centres for children and adolescent epilepsy care. Eighty-two young patients (45 males, 37 females), aged between 3 and 34 years (mean 13.1 years), all affected by partial (47) or generalised (35) refractory epilepsy, were enrolled in the study. ZNS was added to the baseline therapy at a starting dose of 1 mg/kg/day twice daily. This dose was increased by 2 mg/kg every 1-2 weeks over a period of up 3 months, according to the patient's response and tolerability, up to a maximum dose of 12 mg/kg. ZNS was given at the mean daily dose of 5.7/mg/kg/24 h (range 1-12 mg/kg). RESULTS: After a mean follow-up period of 11.9 months (range 2-64 months), 9 patients (10.9%) were seizure-free. The number of seizures decreased by 50-99% in 31 cases (37.8%), by 25-49% in 5 cases (6.1%), remained the same in 29 cases (35.4%) and increased in 8 cases (9.7%). After 15 months of follow-up, 61 patients (74.4%) were still taking ZNS, while the remaining 21 (25.6%) had stopped. Twenty-two patients (26.8%) reported adverse effects while taking ZNS. They generally appeared during the first weeks of treatment, and were mild to moderate. The most frequent adverse effects were irritability and a reduced appetite. CONCLUSION: ZNS effectively reduced seizure frequency in this pediatric population with both partial and generalised crypto/symptomatic refractory epilepsy. Its overall tolerability was good
