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Introduction: Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze MTOR when the phenotype is not completely expressed. Case study: Herein, we report two children harboring the same MTOR recurring mutation (c.5395G>A/p.Glu1799Lys) whose EEG displayed a peculiar combination of midline rhythmic waveforms and asynchronous spike-and-wave discharges with anterior fast activity in sleep and wake. Conclusion: We suggest these features might be considered as possible hallmarks of the syndrome and could aid to expedite the diagnosis when the phenotype is incomplete.
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Executive Functions are a set of interrelated, top-down processes essential for adaptive goal-directed behaviour, frequently impaired across different neurodevelopmental disorders with variable degrees of severity. Many executive-function-training studies in children with neurodevelopmental disorders have focused on near effects, investigating post-treatment improvements on directly trained processes, while enhancements of skills not directly trained, defined as far effects, are less considered, albeit these could be extremely relevant for reducing the negative impact of a disorder's core symptomatology. This systematic review and metanalysis aims to investigate the far effect outcomes after EF training in children with different types of neurodevelopmental disorders. 17 studies met the inclusion criteria for the systematic review, while 15 studies were selected in the metanalysis. An overall statistically significant effect size was found in the majority of far effect outcome measures considered in the studies. In particular, trainings on executive functions determine significant far effects on daily life functioning (0.46, 95% CI: [0.05-0.87]) and clinical symptoms (0.33, 95% CI: [0.15-0.51]). Despite a high variability of the results, intensity, frequency and the laboratory/life contexts dimension seem to be the most influential variables in determining far effects. This systematic review and metanalysis highlights the need to measure far effects of executive function training in neurodevelopmental disorders, selecting treatments not only on directly targeted processes, but also according to far impacts on the functional weakness of the disorder.
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Función Ejecutiva , Trastornos del Neurodesarrollo , Niño , Humanos , Evaluación de Resultado en la Atención de SaludRESUMEN
Developmental language disorder (DLD) is a neurodevelopmental condition, occurring in about 3% to 7% of preschoolers, that can impair communication and negatively impact educational and social attainments, in spite of adequate neurological, cognitive, emotional, social development, and educational opportunities for language learning. Significant risk factors for DLD are male sex, familial history of early language delay, low parental education, and various perinatal factors. A strong sex effect with a higher prevalence of language delay and DLD in males than in females has been consistently reported. Neurobiological and environmental risk factors, interacting with each other, are probably responsible for the phenotypic expression of DLD. The aim of this brief review is to further the knowledge of the role of sex in early language delay and DLD by analyzing the evidence from four significant sources: epidemiological studies, studies on twins, family aggregation studies, and studies on sex chromosome trisomies. Data pertaining only to sex differences (biological and physiological characteristics of females and males) will be analyzed. Studies on family aggregations and twins confirm the role of genetic factors and of sex in determining language abilities and disabilities, but genes alone do not determine outcomes. Sex chromosome trisomies represent a unique example of the relationship between a genetic alteration and a language disorder. Clarification of how sex acts in determining DLD could provide new information on early risk factors and, thus, contribute to improve diagnosis and clinical management.
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Trastornos del Desarrollo del Lenguaje , Caracteres Sexuales , Masculino , Humanos , Femenino , Trisomía , Trastornos del Desarrollo del Lenguaje/epidemiología , Trastornos del Desarrollo del Lenguaje/genética , Trastornos del Desarrollo del Lenguaje/psicología , Escolaridad , ComunicaciónRESUMEN
Evidence from everyday life suggests that differences in social behaviors between males and females exist, both in animal and in humans. These differences can be related to socio-cultural determinants, but also to specialized portions of the brain (the social brain), from the neurotransmitter to the neural network level. The high vulnerability of this system is expressed by the wide range of neuropsychiatric disorders associated with social dysfunctions, particularly social withdrawal. The principal psychiatric disorders with prominent social withdrawal are described, including hikikomori-like syndromes, and anxiety, depressive, autistic, schizophrenic, and personality disorders. It is hypothesized that social withdrawal can be partially independent from other symptoms and likely reflect alterations in the social brain itself, leading to a similar, transdiagnostic social dysfunction, reflecting defects in the social brain across a variety of psychopathological conditions. An overview is provided of gender effects in the biological determinants of social behavior, including: the anatomical structures of the social brain; the dimorphic brain structures, and the modulation of their development by sex steroids; gender differences in "social" neurotransmitters (vasopressin and oxytocin), and in their response to social stress. A better comprehension of gender differences in the phenotypes of social disorders and in the neural bases of social behaviors may provide new insights for timely, focused, innovative, and gender-specific treatments.
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Trastornos Mentales , Masculino , Femenino , Animales , Humanos , Factores Sexuales , Conducta Social , Aislamiento Social , FenotipoRESUMEN
PURPOSE: De novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characterized by developmental delay, hypotonia, speech disturbances, sleep apnea. Seizures have been reported, yet no studies have depicted the epilepsy characteristics and outcome. METHODS: We describe the clinical features of a pair of Caucasian monozygotic female twins affected by severe epilepsy and presenting the same de novo AHDC1 mutation detected by whole exome sequencing. RESULTS: They were concordant with respect to seizure onset and type mimicking Lennox-Gastaut syndrome as well as initial EEG features, but differed in terms of epilepsy prognosis (complete seizure freedom on valproate/lamotrigine versus ongoing daily refractory seizures despite multiple drug combinations). CONCLUSION: Our findings suggest that patients with Xia-Gibbs Syndrome may exhibit Lennox-Gastaut-like features and that even the same AHDC1 mutation can be poorly predictive of epilepsy prognosis.
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Anomalías Múltiples , Epilepsia , Discapacidad Intelectual , Anomalías Múltiples/genética , Proteínas de Unión al ADN/genética , Electroencefalografía , Epilepsia/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Mutación/genética , Convulsiones , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND: The Diagnostic Adaptive Behavior Scale (DABS) is a short scale with excellent properties to assess the conceptual, social, and practical adaptive behavior domains for the diagnosis of intellectual disability (ID) in individuals aged 4-21 years. AIMS: Investigate the test-retest and inter-respondent reliability of the Italian adaptation of the DABS, verify its diagnostic accuracy in identifying individuals with ID and excluding individuals with typical development (TD), and compare its psychometric properties to those of the Vineland-II. METHODS: Test-retest reliability: The same respondent completed the Italian DABS for the same assessed person at two separate times (n = 71). Inter-respondent reliability: Two respondents for the same assessed person completed the Italian DABS independently (n = 57). Diagnostic accuracy: The same respondent completed the Italian DABS and Vineland-II for the same assessed person (n = 378; 50 % ID, 50 % TD). RESULTS: Italian DABS test-retest and inter-respondent correlation coefficients were excellent. Italian DABS sensitivity was 86 % and specificity was 99 %, Italian DABS Areas Under the ROC Curves were excellent (or good, practical skill domain), and comparable to the results reported for the Vineland-II. CONCLUSIONS: The Italian DABS is an excellent measure to evaluate the adaptive behavior for ID diagnosis; it is comparable to the Vineland-II but being shorter, the Italian DABS requires less time to administer.
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Adaptación Psicológica , Discapacidad Intelectual , Adaptación Fisiológica , Adolescente , Adulto , Niño , Preescolar , Humanos , Discapacidad Intelectual/diagnóstico , Psicometría , Reproducibilidad de los Resultados , Adulto JovenRESUMEN
Aggressive behaviors and disruptive/conduct disorders are some of the commonest reasons for referral to youth mental health services; nevertheless, the efficacy of therapeutic interventions in real-world clinical practice remains unclear. In order to define more appropriate targets for innovative pharmacological therapies for disruptive/conduct disorders, the European Commission within the Seventh Framework Programme (FP7) funded the MATRICS project (Multidisciplinary Approaches to Translational Research in Conduct Syndromes) to identify neural, genetic, and molecular factors underpinning the pathogenesis of aggression/antisocial behavior in preclinical models and clinical samples. Within the program, a multicentre case-control study, followed by a single-blind, placebo-controlled, cross-over, randomized acute single-dose medication challenge, was conducted at two Italian sites. Aggressive children and adolescents with conduct disorder (CD) or oppositional defiant disorder (ODD) were compared to the same age (10-17 y) typically developing controls (TDC) on a neuropsychological tasks battery that included both "cold" (e.g., inhibitory control, decision making) and "hot" executive functions (e.g., moral judgment, emotion processing, risk assessment). Selected autonomic measures (heart rate variability, skin conductance, salivary cortisol) were recorded before/during/after neuropsychological testing sessions. The acute response to different drugs (methylphenidate/atomoxetine, risperidone/aripiprazole, or placebo) was also examined in the ODD/CD cohort in order to identify potential neuropsychological/physiological mechanisms underlying aggression. The paper describes the protocol of the clinical MATRICS WP6-1 study, its rationale, the specific outcome measures, and their implications for a precision medicine approach.
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Navigation is a complex process, requiring target localization, route planning or retrieval, and physical displacement. Executive functions (EFs) such as working memory, inhibition and planning are fundamental for succeeding in this complex activity and are often impaired in Attention Deficit and Hyperactivity Disorder (ADHD). Our aim was to analyze the feasibility of a new ecological navigation task, the Virtual City paradigm™ (VC™) to test visuo-spatial memory and EFs in children with ADHD. Visuo-spatial short and working memory, inhibition and planning skills were tested with standardized tasks. The VC™, a new paradigm developed by our group, used the Virtual CarpetTM technology, consisting of a virtual town with houses, streets and crossroads projected on the ground. It includes a motion capture system, tracking body movement in 3D in real time. In one condition, children were required to walk through the city and reach a sequence of houses. In the other, before walking, they had to plan the shortest path to reach the houses, inhibiting the prepotent response to start walking. The results show a good feasibility of the paradigm (feasibility checklist and ad hoc questionnaire), being ecological and motivating. VC™ measures of span positively correlated with visuo-spatial short and working memory measures, suggesting that VC™ heavily relies on efficient spatial memory. Individual subject analyses suggested that children with ADHD may approach this task differently from typically developing children. Larger samples of ADHD and healthy children may further explore the specific role of EFs and memory, potentially opening new avenues for intervention.
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Psychogenic nonepileptic seizures (PNES) are episodic manifestations that mimic epileptic seizures (ES) although not associated with electroencephalogram (EEG) abnormalities. Psychogenic nonepileptic seizures and ES, however, can often cooccur. Emotional distress in adolescents can trigger PNES, but the psychopathological and personality features are still unknown. The aim of this study was to explore psychopathological features in a sample of referred youth with PNES, with or without ES, compared with a control group with ES. Thirty-four patients aged 12 to 21â¯years, 19 females and 15 males, were included in the study, 15 patients with PNES, 7 with PNES and ES, and 12 with ES. The three groups were compared according to psychiatric categorical diagnoses, psychopathological dimensions, life stressors, and personality traits, including alexithymia, interpersonal reactivity, and resilience, all assessed with structured measures. Patients with PNES, with or without ES, were more severely impaired, had a higher incidence of mood disorders, more frequent lifetime traumatic experiences, and lower resilience. All the three groups presented alexythimic traits and emotional dysregulation. Major limitations are the small sample size and the lack of a control group of healthy subjects. Disentagling psychopathological characteristics in PNES can help clinicians to focus diagnostic approaches and therapeutic interventions.
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Epilepsia , Trastornos Mentales , Adolescente , Adulto , Niño , Electroencefalografía , Epilepsia/complicaciones , Femenino , Humanos , Masculino , Psicopatología , Convulsiones/complicaciones , Convulsiones/diagnóstico , Adulto JovenRESUMEN
Learning and behavioral difficulties often emerge during the first years of primary school and are one of the most important issues of concern for families and schools. The study was aimed at investigating the co-occurrence of difficulties between academic learning and emotional-behavioral control in typically developing school children and the moderating role of sex. A sample of 640 second-grade school children participated in the study. This study used the Strengths and Difficulties Questionnaire to measure the emotional and behavioral difficulties and a battery of objective and standardized tests to evaluate the learning skills in children. In this sample 7% to 16% of children performed below the normal range in reading and/or arithmetic tests. Mixed models showed that children's hyperactive behaviors were positively related to both reading and math difficulties, and emotional problems correlated negatively with reading accuracy. The more children displayed behavioral difficulties, the more they were exposed to the risk of worsening reading and math performance, especially for girls. The result that among different emotional-behavioral problems within the school setting, hyperactivity behaviors and emotional difficulties are related to learning difficulties with a moderate effect of sex, needs to be taken into account in screening and prevention programs for learning difficulties in order to not disregard the complexity of the associated profiles.
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Pre-term spastic diplegia (pSD) due to periventricular leukomalacia is a form of cerebral palsy in which weaknesses in executive functions are reported beyond the core visuo-spatial deficits. The study aimed at improving executive functioning and visuo-spatial skills with an evidence-based training focused on working memory in children with pSD. The intervention study followed a stepped wedge design. 19 children with pSD (11 female and 8 male; age range: 4;1-13;1 years), mild to moderate upper limb impairment and Verbal Intelligence Quotient (VIQ) >80 participated to the study. The children were trained with a home-based adaptive working memory training (CogMed®) over a 5-week period. The primary outcome measure was the CogMed Improvement index; pre- and post-test explorative neuropsychological assessment was conducted with a subset of tests from the NEPSY-II battery. Working memory training in children with pSD significantly improved trained working memory abilities (CogMed indices) as well as non-trained skills, such as visuo-spatial skills, inhibition of automatic responses and phonological processing. The results suggest that standard rehabilitation schedules for children with pSD should be integrated with trainings on executive functions.
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BACKGROUND AND OBJECTIVE: Frontal lobe epilepsy (FLE) is often associated with psychiatric features, although the factors predisposing to the concurrence of these conditions have yet to be determined, especially in younger children. We aimed at defining possible clinical and electroencephalography (EEG) features that may enhance the psychiatric risk in pediatric FLE. METHOD: We performed a structured psychiatric assessment of 59 children with FLE, using both categorical and dimensional approaches, correlated psychopathology with epilepsy data, and cognitive development. RESULTS: About 1/3 of patients with FLE displayed intellectual disability (ID), and more than 2/3 displayed psychiatric disorders, including depression, disruptive behaviors, anxiety, and bipolar/psychotic disorders. Psychiatric dimensions such as impulse control problems, attentional deficits, social problems, and aggressive behaviors were frequent features of FLE. Intellectual disability was associated with an earlier onset of psychiatric disorders and more frequent disruptive behavior disorders and aggressiveness. Long-standing epilepsy and bilateral or anterior frontal EEG abnormalities also increased the risk of psychopathology. Finally, right-hemisphere lesions were associated with disruptive behavior disorders, fast EEG rhythms with attention/memory problems, and phases of seizure remission with impulse control problems. CONCLUSIONS: Clinical and EEG markers of increased psychopathological risk may help in defining consistent at-risk subgroups within FLE and improving early diagnosis, prognosis, and treatment. Categorical and dimensional approaches to psychiatric diagnosis may generate new research hypotheses and support the investigation of the complex pathophysiological bases shared by different neurodevelopmental disturbances.
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Electroencefalografía/métodos , Epilepsia del Lóbulo Frontal/fisiopatología , Epilepsia del Lóbulo Frontal/psicología , Lóbulo Frontal/fisiopatología , Trastornos del Neurodesarrollo/fisiopatología , Trastornos del Neurodesarrollo/psicología , Adolescente , Adulto , Atención/fisiología , Niño , Preescolar , Cognición/fisiología , Epilepsia del Lóbulo Frontal/diagnóstico por imagen , Femenino , Lóbulo Frontal/diagnóstico por imagen , Humanos , Masculino , Trastornos del Neurodesarrollo/diagnóstico por imagen , Convulsiones/diagnóstico por imagen , Convulsiones/fisiopatología , Convulsiones/psicología , Adulto JovenRESUMEN
PURPOSE: Our aims were to explore the developmental trajectories of callous-unemotional (CU) traits using a growth curve analysis in Italian children with disruptive behavior disorders treated with a multimodal intervention, and to test both predictors and distal outcomes of CU traits trajectories. PATIENTS AND METHOD: One hundred and sixty-eight children were enrolled, of whom 24 were lost in the follow-up and 144 were followed up from ages 8-9 to 14-15 years with four assessment points. Patients included 128 males (88.9%) with a mean age of 8.7 years, 96 with oppositional defiant disorder (66.7%) and 48 with conduct disorder (CD) (33.3%). The developmental trajectories of CU traits were assessed with the Inventory of Callous-Unemotional Traits (ICU). RESULTS: Our findings revealed that CU features were likely to fit a quadratic model from childhood to adolescence. The CU traits tended to decrease during childhood, with stabilization in adolescence and a significant variability in the growth curves. Pretreatment CD and higher levels of externalizing behavioral problems were associated with higher level of CU traits at baseline, whereas positive parenting was associated with lower levels. No significant effects were found for all the other predictors (socioeconomic status, negative parenting, combined pharmacotherapy). Regarding outcomes into adolescence, both higher levels of CU traits at the baseline and a lower decrease of CU traits across time points predicted a higher risk of CD diagnosis, and higher rate of referrals to mental health services and of substance use. Furthermore, pretreatment CD and negative parenting predicted a higher risk of substance use into adolescence. CONCLUSION: Our findings suggest that a close monitoring of CU traits in referred children with disruptive behavior disorders may help to detect the patients at higher risk of poor outcome.
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BACKGROUND: Several studies have investigated relationships between narcissism, self-esteem and behavioral problems in children. Most of these studies have been conducted in community samples, rather than in clinical referred samples. This field of research is clinically important, because data on community samples suggest that narcissism is a significant risk factor for children's behavioral problems. METHODS: The study aimed to test the psychometric properties of the Child Narcissism Scale (CNS) in a community sample of Italian children and to explore the clinical utility of CNS in a sample of referred children with Oppositional Defiant Disorder (ODD). RESULTS: In the community sample, the Italian version of the CNS was shown to be a normally distributed, single-factor measure of childhood narcissism with very good internal consistency. Furthermore, high levels of narcissism were associated with less self-esteem in family relationships, more parent-reported conduct problems, and less teacher-reported pro-social behaviors. In the ODD sample, high levels of narcissism were associated with more conduct problems and emotional symptoms. Low levels of self-esteem were associated with more conduct problems. LIMITATIONS: The cross sectional design does not allow for estimates of CNS test-retest reliability and sensitivity to change, nor does it allow for interpretations that suggest temporal precedence or causality. CONCLUSIONS: We found support for the cross-cultural utility of the CNS as a short and comprehensive self-report measure of narcissistic traits, which can be used in community and clinical samples of children, and suggested how narcissism may be involved in children's behavioral problems.
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Déficit de la Atención y Trastornos de Conducta Disruptiva/diagnóstico , Déficit de la Atención y Trastornos de Conducta Disruptiva/psicología , Narcisismo , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Autoimagen , Adolescente , Niño , Estudios Transversales , Emociones , Femenino , Humanos , Masculino , Problema de Conducta/psicología , Escalas de Valoración Psiquiátrica/normas , Psicometría , Reproducibilidad de los Resultados , Autoinforme , Sensibilidad y EspecificidadRESUMEN
Disruptive Behavior Disorders (DBDs) are stable and impairing disorders, heterogeneous in presentation, developmental pathways, and treatment needs. Disentangling subtypes according to psychopathological dimensions is helpful for timely diagnoses, precise prognoses and tailored interventions. Psychopathic traits are relevant in subtyping DBDs with severe antisocial and aggressive behaviors. Three psychopathy dimensions have been found: 1) an affective dimension, the callous-unemotional (CU) trait, with lack of empathy and remorse, and with short-lived emotions; 2) an interpersonal dimension, the narcissistic domain, with manipulative abilities, superficial charm, egocentricity and grandiosity; 3) a behavioral dimension, the impulsivity or impulsive-irresponsibility, with irresponsibility, proneness to boredom, and novelty seeking. Recently, research suggests that youth with CU traits, similarly to adults with psychopathy, can present a low-anxious "primary" and high-anxious "secondary" variants. Our aim is to critically review the main measures of psychopathic traits, including the three main dimensions (with specific emphasis on CU traits), and the "primary/secondary" distinction, focusing on the assessment in clinical settings. An assessment procedure is proposed, based on previous literature and personal clinical experience.
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Afecto , Déficit de la Atención y Trastornos de Conducta Disruptiva/diagnóstico , Conducta Impulsiva , Narcisismo , Determinación de la Personalidad , Ansiedad , HumanosRESUMEN
BACKGROUND: The neuropsychological literature on preterm-born children with spastic diplegia due to periventricular leukomalacia is convergent in reporting deficits in non-verbal intelligence and in visuo-spatial abilities. Nevertheless, other cognitive functions have found to be impaired, but data are scant and not correlated with neuroimaging findings. AIMS: This study analyzes the neuropsychological strengths and weaknesses in preterm-born children with spastic diplegia (pSD) and their relationships with neuroanatomical findings, investigated by a novel scale for MRI classification. METHODS AND PROCEDURES: Nineteen children with pSD, mild to moderate upper limb impairment and Verbal IQ>80, and 38 normal controls were evaluated with a comprehensive neuropsychological battery (NEPSY-II), assessing Attention/Executive Functioning, Language, Memory, Sensorimotor, Social Perception and Visuospatial Processing domains. The MRIs were quantitatively scored for lesion severity. OUTCOMES AND RESULTS: The results showed that, beyond core visuo-spatial and sensory-motor deficits, impairments in attention and executive functions were present in more than half of the sample, particularly in children with damage to the anterior corpus callosum. CONCLUSIONS AND IMPLICATIONS: The findings are discussed in terms of clinical and rehabilitative implications tailored for pSD subgroups diversified for neuropsychological and neuroanatomical characteristics.
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Atención , Encéfalo/diagnóstico por imagen , Parálisis Cerebral/psicología , Disfunción Cognitiva/psicología , Función Ejecutiva , Leucomalacia Periventricular/psicología , Adolescente , Encéfalo/fisiopatología , Parálisis Cerebral/diagnóstico por imagen , Parálisis Cerebral/fisiopatología , Niño , Preescolar , Cognición , Disfunción Cognitiva/diagnóstico por imagen , Disfunción Cognitiva/fisiopatología , Cuerpo Calloso , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Lenguaje , Leucomalacia Periventricular/diagnóstico por imagen , Leucomalacia Periventricular/fisiopatología , Imagen por Resonancia Magnética , Masculino , Memoria , Pruebas Neuropsicológicas , Percepción Social , Procesamiento EspacialRESUMEN
Although multi-component psychotherapeutic interventions are first-line treatments for Disruptive Behavior Disorders (DBD), pharmacotherapy is often associated for more severe patients. Our aim was to explore effectiveness of an associated pharmacotherapy in referred children with DBD receiving a one-year psychotherapeutic intervention. Aggression, callous unemotional (CU) traits and emotional dysregulation were outcome measures. The sample included 144 children, aged 8-12 years, 41 (29%) with an ADHD comorbidity. Fifty-five (38%) patients received an additional pharmacotherapy with one medication, methylphenidate, a second generation antipsychotic, or a mood stabilizer. Data were collected before and after the one-year treatment. According to the Child Behavior Checklist (CBCL), aggressive behaviors, rule-breaking behaviors and emotional dysregulation improved in the whole group, as well as parent- and child-reported CU traits. The hierarchical regression model showed that additional pharmacotherapy significantly predicted lower scores at the CBCL aggressive behaviors and emotional dysregulation, but not CU traits at the end of the treatment. The interaction between methylphenidate and ADHD comorbidity predicted lower aggressive behaviors after the treatment. In summary, this naturalistic investigation suggest that an additional pharmacotherapy significantly improved aggression and emotional dysregulation, but not CU traits. When ADHD was comorbid, methylphenidate was more effective than antipsychotics or mood stabilizers in reducing aggression.
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Antipsicóticos/uso terapéutico , Déficit de la Atención y Trastornos de Conducta Disruptiva/terapia , Metilfenidato/uso terapéutico , Psicoterapia/métodos , Agresión/efectos de los fármacos , Agresión/psicología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno por Déficit de Atención con Hiperactividad/terapia , Déficit de la Atención y Trastornos de Conducta Disruptiva/psicología , Lista de Verificación , Niño , Terapia Combinada/métodos , Comorbilidad , Emociones/efectos de los fármacos , Femenino , Humanos , Masculino , PadresRESUMEN
In recent years, the use of brain diffusion MRI has led to the hypothesis that children with autism spectrum disorder (ASD) show abnormally connected brains. We used the model of disease-discordant identical twins to test the hypothesis that higher-order diffusion MRI protocols are able to detect abnormal connectivity in a single subject. We studied the structural connectivity of the brain of a child with ASD, and of that of his unaffected identical twin, using high angular resolution diffusion imaging (HARDI) probabilistic tractography. Cortical regions were automatically parcellated from high-resolution structural images, and HARDI-based connection matrices were produced for statistical comparison. Differences in diffusion indexes between subjects were tested by Wilcoxon signed rank test. Tracts were defined as discordant when they showed a between-subject difference of 10 percent or more. Around 11 percent of the discordant intra-hemispheric tracts showed lower fractional anisotropy (FA) values in the ASD twin, while only 1 percent showed higher values. This difference was significant. Our findings in a disease-discordant identical twin pair confirm previous literature consistently reporting lower FA values in children with ASD.
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Trastorno del Espectro Autista/patología , Encéfalo/patología , Gemelos Monocigóticos , Anisotropía , Encéfalo/anatomía & histología , Preescolar , Imagen de Difusión por Resonancia Magnética/métodos , Humanos , MasculinoRESUMEN
BACKGROUND: Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. OBJECTIVES: Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer's cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. METHODS: We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7) and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57) using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups. RESULTS: We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016) with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%). The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037) and in most trials testing handwriting quality (P< 0.02). In children with AE/dysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (P<0.001). CONCLUSIONS: In children with AE, dysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia.
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Agrafia/diagnóstico , Distonía/diagnóstico , Epilepsia Tipo Ausencia/complicaciones , Adolescente , Agrafia/etiología , Estudios de Casos y Controles , Niño , Distonía/etiología , Epilepsia Tipo Ausencia/diagnóstico , Femenino , Escritura Manual , Humanos , MasculinoRESUMEN
AIM: Visual perception is one of the cognitive functions often impaired in children with cerebral palsy (CP). The aim of this systematic literature review was to assess the frequency of visual-perceptual impairment (VPI) and its relationship with patient characteristics. METHOD: Eligible studies were relevant papers assessing visual perception with five common standardized assessment instruments in children with CP published from January 1990 to August 2011. RESULTS: Of the 84 studies selected, 15 were retained. In children with CP, the proportion of VPI ranged from 40% to 50% and the mean visual perception quotient from 70 to 90. None of the studies reported a significant influence of CP subtype, IQ level, side of motor impairment, neuro-ophthalmological outcomes, or seizures. The severity of neuroradiological lesions seemed associated with VPI. The influence of prematurity was controversial, but a lower gestational age was more often associated with lower visual motor skills than with decreased visual-perceptual abilities. INTERPRETATION: The impairment of visual perception in children with CP should be considered a core disorder within the CP syndrome. Further research, including a more systematic approach to neuropsychological testing, is needed to explore the specific impact of CP subgroups and of neuroradiological features on visual-perceptual development.