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1.
Artigo em Inglês | MEDLINE | ID: mdl-38673299

RESUMO

In a digitally oriented society, smartphones provide continual online accessibility to daily life while simultaneously predisposing adolescents to engage in prolonged connections for various purposes, thus escalating the risk of Internet addiction (IA). Cognitive processes such as multitasking and attentional shifting are frequently associated with smartphone activities. Additionally, online engagements may serve as emotional strategies for regulating negative states (e.g., boredom and distress), redirecting attention towards more gratifying activities, such as social media contents. This study delves into cognitive-emotional processes (i.e., emotion regulation, attention impulsiveness, online vigilance, and multitasking) and emotional/behavioural factors (i.e., emotional problems, conduct problems, hyperactivity/inattention, peer relationships, and prosocial behaviours) that may be implicated in smartphone activities and technology addiction among adolescents. A community sample of Italian high school students (N = 676; 42.2% females) completed the Smartphone Distraction Scale (SDS), the Strength and Difficulties Questionnaire (SDQ) for internalising/externalising symptoms and the Internet Addiction Test (IAT) to assess the presence and severity of IA. The scores on the SDS were found to be positively associated with IA levels. Furthermore, students exhibiting higher internalising/externalising symptoms, particularly those with traits of attention deficit hyperactivity disorder (ADHD), are more likely to manifest problematic smartphone usage. The implications for screening adolescents more susceptible to developing IA symptoms and for implementing preventive interventions are discussed.


Assuntos
Emoções , Transtorno de Adição à Internet , Smartphone , Estudantes , Humanos , Adolescente , Feminino , Masculino , Itália , Transtorno de Adição à Internet/psicologia , Transtorno de Adição à Internet/epidemiologia , Estudantes/psicologia , Comportamento Aditivo/psicologia , Inquéritos e Questionários , Comportamento do Adolescente/psicologia
2.
J Clin Med ; 13(6)2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38541853

RESUMO

Specific risk factors for self-harm and suicide in children and adolescents with neurodevelopmental disorders (NDD) may differ from those in the general population within this age range. In the present review paper, we conducted a narrative analysis of the literature, aiming to establish a connection between suicide and affective disorders in children and adolescents with NDD. Emotion dysregulation (ED) as an individual factor and adverse childhood experiences (ACE) as environmental factors are discussed as risk factors for suicidality in all individuals with NDD. We propose a theoretical model in which ED and ACE can directly lead to self-harm or suicide, directly or indirectly by interacting with depressive spectrum disorders. Additionally, we suggest that specific risk factors are more frequently associated with each of the neurodevelopmental disorders listed in the DSM-V. This review underlines the key points useful to improve the knowledge of the trajectory leading to suicide risk in NDDs with the purpose to facilitate the early identification of the suicide risk.

3.
Healthcare (Basel) ; 11(21)2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-37958029

RESUMO

Vegetarianism can meet healthy, ethical, or ecological values (such as equality and protection of animals or the environment). At the same time, it can represent a response to the need for self-determination in adolescence. Furthermore, some studies show vegetarians have greater depressive risk and a lower sense of body satisfaction. Considering the spread of non-meat diets in the Western world, researchers have investigated the benefits and risks to physical and psychological health. Despite this, few studies have been conducted on factors influencing adolescent's vegetarian diet-related attitudes. Through self-administered loosely structured interviews, this research investigated factors potentially associated with vegetarian choices in adolescence. It checked (a) gender differences in vegetarian choices; (b) religious, familial, ethical, or health factors implied in vegetarian choices; and (c) indicators of well-being among young vegetarians. The findings suggest that for our sample, non-vegetarians have lower scores on health-related questions than others, while for vegetarian adolescents, the benefits of vegetarianism mainly depend on their ethical stances, beliefs, and values. Conversely, it is unrelated to factors such as the desire to lose weight, dissatisfaction about one's body shape, or depressive feelings.

4.
J Pers Med ; 13(9)2023 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-37763113

RESUMO

BACKGROUND: Allergic rhinitis (AR) is the most common chronic allergic disease in children. Several studies have shown an association between attention deficit hyperactivity disorder (ADHD) and allergies, especially AR. Patients with ADHD usually have poor therapeutic adherence, and untreated AR symptoms may worsen the quality of life of patients. METHODS: The aim of our study was to analyse therapeutic adherence in patients with ADHD and AR and estimate the impact of the adherence on ADHD symptoms. Total Nasal Symptoms Score (TNSS), Paediatric or Adolescent Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ 6-12 years; ARQLQ 13-17 years), Swanson, Nolan, and Pelham version IV scale (SNAP-IV), and Medication Assessment Questionnaire (MGL MAQ) were recorded. RESULTS: In the AR-ADHD group, a positive correlation between TNSS and SNAP-IV subscales was found: worse AR symptoms were related to a negative effect on ADHD scores. AR-ADHD patients with better ADHD therapeutic adherence showed higher AR symptoms and higher oppositional defiant disorder scores in the SNAP-IV questionnaire. CONCLUSIONS: Our results suggest that better adherence to AR therapy (oral antihistamines and/or intranasal corticosteroids, INCS) is associated with a reduction in inattention symptoms in children with ADHD. This data could prove to be fundamental for the psychic outcome of these patients.

5.
J Clin Med ; 11(18)2022 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-36143071

RESUMO

Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children's functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18−44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye−hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson's correlation coefficient (r = −0.32, p = 0.002; r = −0.21, p = 0.044; r = −0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children's developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.

6.
Front Neurosci ; 15: 734177, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34887721

RESUMO

Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD) are two of the most represented neurodevelopmental conditions in childhood. The diagnostic shift introduced by the DSM-5, allowing a combined diagnosis of ADHD and ASD, poses different clinical challenges related to diagnostic overshadowing, accuracy of clinical judgment and potential delay in an ASD diagnosis in children presenting with ADHD. Here we tried to disentangle the clinical phenotype and specificity of the two co-occurring conditions in relation to autism traits and empathy, by comparing children with ASD with and without comorbid ADHD with children presenting ADHD only and children with typical development. The child versions of the Autism Quotient (C-AQ) and Empathy Quotient (C-EQ) were administered to a total sample of 198 male children between 6 and 14 years old with age appropriate language skills and normal intelligence. Univariate analysis demonstrated no significant differences in the C-AQ total and subscale scores as well as the C-EQ between children with ASD and children with ASD + ADHD, while children with ADHD alone presented an intermediate phenotype between ASD and TD. Furthermore, a receiver operating characteristic (ROC) analysis was applied to discriminate among the different phenotypes. We found that the C-AQ and C-EQ were accurate at distinguishing with satisfactory reliability between: (a) ASD vs. non- ASD (N-ASD) groups comprising both ADHD and TD children (Area Under the Curve AUC 88% for C-AQ and 81% for C-EQ); (b) ASD and TD (AUC 92% for C-AQ and 95% for C-EQ); (c) ASD and ADHD (AUC 80% for C-AQ and 68% for C-EQ). Our data confirm the reliability of the C-AQ and C-EQ as behavioral markers to differentiate ASD (regardless of comorbid ADHD) from an ADHD condition and TD. Interestingly, in our sample an ADHD condition does not increase the severity of the clinical phenotype in terms of autism traits distribution and empathy, suggesting that the psychological measures detected by the two quantitative instruments are independent of ADHD traits. This evidence will contribute to the translational efforts in developing better tailored treatments and preventive strategies.

7.
Brain Sci ; 11(1)2021 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-33401390

RESUMO

Some studies show that the diagnosis of Autism Spectrum Disorder could be considered reliable and stable in children aged 18 to 24 months. Nevertheless, the diagnostic stability of early ASD diagnosis has not yet been fully demonstrated. This observational study examines the one-year diagnostic stability of autism spectrum disorder diagnosis in a clinical sample of 147 children diagnosed between 18 and 48 months of age. The ADOS-2 scores were used in order to stratify children in three levels of symptom severity: Autism (AD; comparison score 5-7), Autism Spectrum Disorder (ASD; comparison score 3-4), and Sub-Threshold Symptoms; (STS; comparison score 1-2). Results: Overall, the largest part of children and toddlers diagnosed with autism spectrum disorder between 18 and 48 months continued to show autistic symptoms at one-year follow-up evaluation. Nevertheless, a significant percentage of children with higher ADOS severity scores exhibited a reduction of symptom severity and, therefore, moved towards a milder severity class one year later. Conversely, the number of subjects of the STS group meaningfully increased. Therefore, at one-year follow-up a statistically significant (χ2(2) = 181.46, p < 0.0001) percentage of subjects (25.2% of the total) who had received a categorical diagnosis of Autistic Disorder or Autism Spectrum Disorder in baseline no longer met the criteria for a categorical diagnosis. Furthermore, children who no longer met the criteria for autism spectrum disorder continue to show delays in one or more neurodevelopmental areas, possibly related to the emergence of other neurodevelopmental/neuropsychiatric disorders. Overall, the comprehensive results of the study account for a high sensibility but a moderate stability of ASD early diagnosis.

8.
Epilepsy Behav ; 111: 107118, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32563891

RESUMO

Several studies have documented learning disabilities (LDs) in subjects with epilepsy, who have been shown to be at greater risk of mild neuropsychological damage, with the consequent risk of academic failure. This retrospective study aimed to investigate the peculiarities of reading and writing disorders in subjects with idiopathic epilepsy. The reading and writing performance of 35 children affected by reading and writing disorders and idiopathic epilepsy (R/WD + E group) has been compared with the performance of 37 children with only reading and writing disorders (R/WD group). A comparison group of 22 typical developing healthy children (TDC group) was also included in the study. As expected, the TDC group reached better performances in the reading and writing tests administered. Between R/WD + E and R/WD groups, there was a substantial analogy in reading and writing disabilities. The differences between the two clinical groups concern writing ability in sentences dictation and verbal and visuospatial short-term memory in digit span and memory-for-location (MFL) tests.


Assuntos
Dislexia/psicologia , Epilepsia/psicologia , Testes Neuropsicológicos , Redação , Criança , Dislexia/diagnóstico , Dislexia/epidemiologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Deficiências da Aprendizagem/diagnóstico , Deficiências da Aprendizagem/epidemiologia , Deficiências da Aprendizagem/psicologia , Masculino , Memória de Curto Prazo/fisiologia , Estudos Retrospectivos
9.
Front Psychiatry ; 11: 152, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32265749

RESUMO

Background: Antipsychotic drugs (APs) are increasingly used to treat a variety of psychiatric disorders in children and adolescents. However, their safety and tolerability profiles, when used in a developmental age context, show different characteristics from the ones observed in adult patients. Treatment with APs in pediatric patients is often long-term. However, the tolerability data regarding these patients mostly derive from short-term studies. Methods: Starting from April 2017, for a 1-year period, patients between 4 and 18 years of age followed by five units of developmental age neuropsychiatry, who initiated a treatment with at least an AP (ATC class N05A) were included into the study. Patient-related data have been collected at baseline and regularly thereafter, as allowed by the clinical routine. Changes to continuous variables over time have been analyzed using a linear mixed model in subsamples of our population treated with risperidone or aripiprazole. Results: During the observation period, 158 patients were initially enrolled, but only 116 completed 12 months of therapy with an AP. Risperidone was the most used AP (n = 52) followed by aripiprazole (n = 44) and olanzapine (n = 7). For both the aripiprazole and risperidone groups, the mean body mass index (BMI) (P < 0.001 for both groups) and heart rate (P = 0.026 for aripiprazole group and P < 0.001 for the risperidone one) values significantly increased over time. The mean prolactin concentration value significantly increased over time only in the risperidone group (P = 0.04). Eighty-six patients experienced at least one adverse drug reaction (ADR), accounting for a total of 238 specific reactions, with the most frequent being weight gain (n = 34), increased serum prolactin levels (n = 21), hyperphagia (n = 20), and hypercholesterolemia (n = 14). Among these, only 24 ADRs were classifiable as serious. Conclusions: The results of this study confirm that risperidone and aripiprazole are relatively well-tolerated therapeutic options for the treatment of a variety of psychiatric disorders in pediatric patients. However, in findings such as statistically significant increments of BMI and heart rate mean values, the variations over time in prolactin levels observed with risperidone and the differences between the two drugs remark the necessity of systematic monitoring.

10.
Paediatr Drugs ; 18(4): 319-29, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27278054

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are frequently overlapping neurodevelopmental disorders. Individuals in whom the disorders are comorbid show more severe impairment because of deficits in the processing of social situations, adaptive functioning, and executive control than individuals with either disorder alone. OBJECTIVE: This open-label pilot study aimed to evaluate and compare the efficacy and tolerability of risperidone and aripiprazole for treating ADHD symptoms in patients with both ASD and ADHD over the course of 24 weeks of treatment. METHODS: Patients (n = 44) were randomly assigned to start treatment with risperidone (22 patients) or aripiprazole (22 patients). Children were evaluated before starting treatment (T0), and after 12 weeks (T1) and 24 weeks (T2) of treatment. At each visit, specific psychiatric clinical scales were administered to assess the efficacy of the two drugs. RESULTS: The mean age was 8.4 ± 2.9 years in the aripiprazole group and 7.8 ± 2.3 years in the risperidone group. A total of 37 children (29 boys and 8 girls) completed the study (18 in the aripiprazole group and 19 in the risperidone group). Aripiprazole and risperidone appeared to have similar benefits in terms of efficacy and tolerability, although there were slight differences between the two drugs. Both groups showed a significant improvement in ADHD symptoms after 24 weeks of treatment (ADHD Rating Scale, Conners Parent Rating Scale-Hyperactivity, and Clinical Global Improvement-Severity Scale). No significant difference between the two drugs on any parameters at 24 weeks were found. Prolactin levels were decreased in the aripiprazole group. Both drugs were well tolerated, with no serious adverse events detected. CONCLUSIONS: Our study confirms the efficacy of both aripiprazole and risperidone in ameliorating ADHD symptoms of children also presenting with ASD.


Assuntos
Aripiprazol/uso terapêutico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Espectro Autista/tratamento farmacológico , Risperidona/uso terapêutico , Antipsicóticos/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Projetos Piloto
11.
J Clin Exp Neuropsychol ; 37(9): 972-80, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26332176

RESUMO

INTRODUCTION: Understanding silent reading fluency (SRF) is of a paramount importance, given that silent reading is the principal manner of reading for capable readers. But the assessment of SRF is not commonly useful for identifying students with reading difficulties and monitoring their progress. The paper presents the SRF scores of adults with dyslexia compared to SRF scores of skilled readers and discusses the power of the SRF measure in identifying adults with specific learning disorders with impairment in reading. METHOD: Participants recruited were 68 dyslexic and age-matched skilled adult readers (18-48 years old). Among them, 24 were skilled readers with a university degree (GRS), 22 were skilled readers with a high school diploma (DSR), and 22 participants had been diagnosed with dyslexia (DR). We used a standardized oral reading fluency (ORF) test and an original SRF task to measure the reading fluency. RESULTS: All participants increased their reading fluency in silent mode (p < .001). Nonetheless, the average speed of the oral reading was 7.19 syllables per second (syl/s) for the GSR group, 7.11 syl/s for the DSR group, and 4.95 syl/s for the DR group. The average speed of the silent reading was 11.62 syl/s and 10.75 syl/s for GSR and DSR, respectively, and 6.15 syl/s for DR. The reading fluency differential (Δf) between ORF and SRF was significantly different among the dyslexic participants and the other two groups. CONCLUSIONS: Our results strongly suggest that dyslexic readers are less capable of significantly improve their reading speed when they read silently. Thus SRF could be considered a suitable parameter for identifying older students and adults with impairment in reading. A broader investigation of the issues surrounding silent reading is needed.


Assuntos
Dislexia/diagnóstico , Dislexia/fisiopatologia , Leitura , Adolescente , Adulto , Análise de Variância , Dislexia/psicologia , Movimentos Oculares , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estatísticas não Paramétricas , Adulto Jovem
12.
Neuropsychiatr Dis Treat ; 11: 1169-74, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26056451

RESUMO

Attention-deficit hyperactivity disorder is a frequent condition in children and often extends into adulthood. Use of immediate-release methylphenidate (MPH) has raised concerns about potential cardiovascular adverse effects within a few hours after administration. This study was carried out to investigate acute effects of MPH on electrocardiogram (ECG) in a pediatric population. A total of 54 consecutive patients with attention-deficit hyperactivity disorder (51 males and 3 females; mean age =12.14±2.6 years, range 6-19 years), receiving a new prescription of MPH, underwent a standard ECG 2 hours before and after the administration of MPH 10 mg per os. Basal and posttreatment ECG parameters, including mean QT (QT interval when corrected for heart rate [QTc]), QTc dispersion (QTd) interval duration, T-peak to T-end (TpTe) intervals, and TpTe/QT ratio were compared. Significant modifications of both QTc and QTd values were not found after drug administration. QTd fluctuated slightly from 25.7±9.3 milliseconds to 25.1±8.4 milliseconds; QTc varied from 407.6±12.4 milliseconds to 409.8±12.7 milliseconds. A significant variation in blood pressure (systolic blood pressure 105.4±10.3 vs 109.6±11.5; P<0.05; diastolic blood pressure 59.2±7.1 vs 63.1±7.9; P<0.05) was observed, but all the data were within normal range. Heart rate moved from 80.5±15.5 bpm to 87.7±18.8 bpm. No change in TpTe values was found, but a statistically significant increase in TpTe/QTc intervals was found with respect to basal values (0.207±0.02 milliseconds vs 0.214±0.02 milliseconds; P<0.01). The findings of this study show no significant changes in ECG parameters. TpTe values can be an additional parameter to evaluate borderline cases.

13.
Case Rep Pediatr ; 2014: 980401, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25215256

RESUMO

This paper describes a 17-year-old boy who was diagnosed with Klinefelter syndrome (KS) (XXY) at the age of 16 years. Although cognitive level was absolutely normal, he showed attentional difficulties that negatively affected school adjustment. He was successfully treated with methylphenidate. A significant improvement was observed in the ADHD Rating Scale IV and in the inattention subscale score of the Conners Scales. The CGI-S score improved from 3 to 1, and the CGI-I score at the end point was 1 (very much improved). Also attention measures, particularly forward and backward digit span, improved with MPH treatment. Given the widely variable and often aspecific features, KS may run undiagnosed in a large majority of affected patients. A close attention to the cognitive phenotype may favour a correct diagnosis, and a timely treatment.

14.
Artigo em Inglês | MEDLINE | ID: mdl-24211841

RESUMO

Atypical antipsychotics (AP) are increasingly being used in children and adolescents for the treatment of psychiatric disorders. Atypical AP may cause QT prolongation on the electrocardiogram (ECG), which predisposes patients to an increased risk of developing threatening ventricular arrhythmias. Although this phenomenon has been exhaustively reported in adults, few studies investigated the safety of these drugs in pediatric patients. We performed an open-label, prospective study to assess the arrhythmic risk of aripiprazole and risperidone in a pediatric population. A total of 60 patients (55 M/5F, mean age 10.2+2.6 years, range 4-15 years), receiving a new prescription of aripiprazole or risperidone in monotherapy underwent a standard ECG before and after two months from the beginning of antipsychotic treatment. Basal and post-treatment ECG parameters, including mean QT (QTc) and QT dispersion (QTd), were compared within treatment groups. Twenty-nine patients were treated with aripiprazole (mean dosage 7.4+3.1mg/day) and 31 with risperidone (mean dosage 1.5+1mg/day). In our series, no patient exhibited pathological values of QTc or QTd before and after treatment for both drugs. However, treatment with risperidone was associated with a slight increase of both mean QTc and QTd values (407.4+11.9 ms vs 411.2+13.0 ms, p<0.05; and 40.0+4.4 ms vs 44.7+5.5 ms, p<0.001, respectively). Treatment with aripiprazole was associated with no changes of mean QTc, even if a small increase of QTd, (40.6+6.5 ms vs 46.3+7.2 ms, p<0.01) was observed. Although our data suggest a slight effect of aripiprazole and risperidone on ventricular repolarization, it is unlikely that such a change results in clinically relevant effects. The treatment with risperidone and aripiprazole in children with psychiatric disorders is not associated with clinically relevant modifications of QT interval. Caution in prescribing these drugs, however, is necessary in patients with family history of a genetic predisposition to arrhythmias in order to warrant a reliable assessment of drug-induced QT prolongation.


Assuntos
Antipsicóticos/farmacologia , Frequência Cardíaca/efeitos dos fármacos , Piperazinas/farmacologia , Quinolonas/farmacologia , Risperidona/farmacologia , Adolescente , Antipsicóticos/uso terapêutico , Aripiprazol , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Humanos , Masculino , Transtornos Mentais/tratamento farmacológico , Piperazinas/uso terapêutico , Estudos Prospectivos , Quinolonas/uso terapêutico , Estudos Retrospectivos , Risperidona/uso terapêutico
15.
Artigo em Inglês | MEDLINE | ID: mdl-25614755

RESUMO

Attention-deficit/hyperactivity disorder (ADHD) is frequently associated with negative psychological outcomes. This study explores the relationship between self-esteem, ADHD symptoms and parental stress. It compares children with ADHD, children with epilepsy (E) and typical developmental controls (TD). Participants included 65 children (aged 9-12 yrs) and their parents. The assessment was conducted by Multidimensional Self-Concept Scale (MSCS), Parent Stress Index (PSI) and Conners' Parent Rating Scales-Revised. Significant differences were found in Social, Competence and Academic areas of self-esteem between children with ADHD, with E and TD. Moreover, parents of children with ADHD showed a higher overall stress than both other groups. In conclusion, it seems important to evaluate the psychological aspects of ADHD con-dition, both in children and in parents, in order to suggest an individual multimodal treatment.

16.
Epilepsy Behav ; 29(3): 548-51, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24183735

RESUMO

Homocysteine (Hcy) is a sulfur-containing amino acid involved in methionine metabolism. High plasma total Hcy (tHcy) has been quite frequently reported in patients with epilepsy treated with antiepileptic drugs (AEDs) mainly related to plasma folate reduction induced by AEDs themselves. The role of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene (MTHFR) on the increase of plasma tHcy in patients with epilepsy taking AEDs is still controversial. Cognitive impairment may be associated with epilepsy either as the result of the epileptic syndrome per se or as a side effect induced by the AEDs. High plasma tHcy levels were associated with lower cognitive performances in patients affected by Alzheimer's disease and mild cognitive impairment and in healthy elderly. We searched for a correlation between plasma tHcy levels with the intelligence quotient (IQ) scores in a population of children and young adults with epilepsy treated with old and/or newer AEDs. The study group encompassed 179 patients (92 M, 51.5%) followed at our Unit of Child Neuropsychiatry and aged between 4 and 25years (mean+SD: 14.03±4.25). The inclusion criteria included the following: 1) diagnosis of epilepsy of "unknown cause" (cryptogenic) according to the ILAE classification, 2) age older than 3years, 3) stabilized antiepileptic treatment for at least 6months, and 4) clinical records of cognitive tests, plasma tHcy value, and results of MTHFR polymorphisms. Patients' mean tHcy value was 9.71±3.13µM/L (tHcy<9µM/L as our laboratory cutoff in nonepileptic controls). The mean TIQ score was 85.22 (SD±24.12); the mean VIQ score was 86.32 (SD±20.86); and the mean PIQ score was 86.94 (SD±21.51). C677T and A1298C MTHFR polymorphisms were detected in 74/92 (80%) examined patients and distributed into the following: CT (22.3%), TT (14.9%), CC (10.3%) for C677T, AC (16%), CC (1.1%), and AA (30.3%) for A1298C. Plasma tHcy levels were not significantly related to the IQ scores (TIQ, VIQ, or PIQ). Two significant findings came out. First, patients on AED polytherapy showed significantly lower TIQ, VIQ, and PIQ scores compared with the ones with AED monotherapy (p=0.032; p=0.008; p=0.005, respectively). However, this significant difference was not observed with the plasma tHcy levels compared with AED treatment. Second, patients with the 677TT genotype showed significantly higher tHcy levels versus those with the wt ones (p=0.049). In the latter group of patients, although the mean TIQ score was lower compared with the mean TIQ score in those with the wt ones, the difference only approached statistical significance (p=0.056). To our knowledge, this is the first study investigating the relationship between tHcy levels and cognitive scores in children with epilepsy treated with AEDs. Analysis of wider samples, selective neuropsychological tests, and prospective recruitment of patients might be encouraged.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia , Homocisteína/sangue , Testes de Inteligência , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Criança , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/etiologia , Epilepsia/sangue , Epilepsia/tratamento farmacológico , Epilepsia/genética , Feminino , Ácido Fólico/sangue , Humanos , Masculino , Testes Neuropsicológicos , Estatísticas não Paramétricas , Vitamina B 12/sangue , Adulto Jovem
17.
Orphanet J Rare Dis ; 6: 36, 2011 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-21651769

RESUMO

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration.These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.


Assuntos
Malformações do Sistema Nervoso/patologia , Núcleo Tegmental Pedunculopontino/anormalidades , Adolescente , Imagem de Tensor de Difusão , Feminino , Humanos , Masculino , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Doenças Raras/patologia
18.
Brain Dev ; 33(6): 480-6, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20950971

RESUMO

The comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) with sleep disorders has been extensively studied. In particular, Restless Legs Syndrome (RLS) appears to be consistently more frequent in children with ADHD. Several papers also draw attention to the frequent occurrence of epileptic seizures and EEG abnormalities in ADHD children. We performed a preliminary open label study to evaluate the efficacy of Levetiracetam (LEV) to ameliorate the sleep pattern and reduce RLS symptoms in children with a complex comorbidity between Attention Deficit Hyperactivity Disorder (ADHD), RLS and focal interictal epileptic discharges (IEDs) on EEG. We recruited seven children (all males, aged between 5 and 12years) who fulfilled the following criteria: ADHD diagnosis combined subtype; presence of idiopathic RLS; and presence of focal IEDs on EEG. All children were given LEV at a starting dose of approximately 10-20mg/kg/day followed by 10mg/kg/day incrementing at 1-week intervals up to 50-60mg/kg/day given in two separate doses. At a 3 and 6month follow-up, all children showed significant improvement (p<0.05) in global International RLS Rating Scale (IRLS-RS). Parents' reports revealed improved sleep quality with fewer awakenings and restorative sleep in their children. LEV was well tolerated and no major side effects were reported. With an accessory report we observed the reduction of epileptiform EEG activity during sleep. In most patients (6 on 7) the discharges completely disappeared; in the last patient epileptiform EEG activity was significantly reduced. These children may represent a subgroup of ADHD patients in which the hyperactivity and attention difficulties might be aggravated by sleep disturbances and by IEDs. LEV could represent a therapeutic option for these comorbid conditions.


Assuntos
Anticonvulsivantes/uso terapêutico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Piracetam/análogos & derivados , Síndrome das Pernas Inquietas/tratamento farmacológico , Síndrome das Pernas Inquietas/epidemiologia , Criança , Pré-Escolar , Comorbidade , Eletroencefalografia , Humanos , Levetiracetam , Masculino , Piracetam/uso terapêutico , Sono/fisiologia , Inquéritos e Questionários
19.
Dev Neuropsychol ; 35(5): 475-93, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20721770

RESUMO

Comorbidity of attention deficit hyperactivity disorder (ADHD) and reading disorder (RD) is frequent. Comorbid subjects show a neuropsychological profile characterized by failure of various cognitive functions with an additive-effect that can determine more severe functional deficits. Comorbid RD may be a marker for a group of children with ADHD with more severe cognitive deficits, and a worse neuropsychological, academic, and behavioral outcome. The article focuses on the link between RD and ADHD from an epidemiological, genetic, neurofunctional, neuropsychological, and therapeutic perspective and summarizes the characteristics of the comorbid phenotype.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Dislexia/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Comorbidade , Dislexia/genética , Dislexia/psicologia , Humanos , Fenótipo
20.
Arch Gen Psychiatry ; 66(9): 947-56, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19736351

RESUMO

CONTEXT: Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrum disorders, and schizophrenia. OBJECTIVES: To provide an estimate of the collective frequency of a set of recurrent or overlapping CNVs in 3 different groups of cases compared with healthy control subjects and to assess whether each CNV is present in more than 1 clinical category. DESIGN: Case-control study. SETTING: Academic research. PARTICIPANTS: We investigated 28 candidate loci previously identified by comparative genomic hybridization studies for gene dosage alteration in 247 cases with mental retardation, in 260 cases with autism spectrum disorders, in 236 cases with schizophrenia or schizoaffective disorder, and in 236 controls. MAIN OUTCOME MEASURES: Collective and individual frequencies of the analyzed CNVs in cases compared with controls. RESULTS: Recurrent or overlapping CNVs were found in cases at 39.3% of the selected loci. The collective frequency of CNVs at these loci is significantly increased in cases with autism, in cases with schizophrenia, and in cases with mental retardation compared with controls (P < .001, P = .01, and P = .001, respectively, Fisher exact test). Individual significance (P = .02 without correction for multiple testing) was reached for the association between autism and a 350-kilobase deletion located at 22q11 and spanning the PRODH and DGCR6 genes. CONCLUSIONS: Weakly to moderately recurrent CNVs (transmitted or occurring de novo) seem to be causative or contributory factors for these diseases. Most of these CNVs (which contain genes involved in neurotransmission or in synapse formation and maintenance) are present in the 3 pathologic conditions (schizophrenia, autism, and mental retardation), supporting the existence of shared biologic pathways in these neurodevelopmental disorders.


Assuntos
Transtorno Autístico/genética , Deficiência Intelectual/genética , Esquizofrenia/genética , Adolescente , Adulto , Transtorno Autístico/diagnóstico , Estudos de Casos e Controles , Mapeamento Cromossômico/estatística & dados numéricos , Hibridização Genômica Comparativa/estatística & dados numéricos , Feminino , Dosagem de Genes/genética , Frequência do Gene , Genótipo , Humanos , Hibridização in Situ Fluorescente/estatística & dados numéricos , Deficiência Intelectual/diagnóstico , Masculino , Neurogênese , Análise de Sequência com Séries de Oligonucleotídeos , Prolina/sangue , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/genética , Esquizofrenia/diagnóstico
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