RESUMEN
INTRODUCTION: Inattention is one of the core symptoms of Attention Deficit Hyperactivity Disorder (ADHD). Most of patients with ADHD show motor impairment, consisting in the persistence of neurological soft signs (NSS). Our aim was to evaluate attentional and motor functioning in an ADHD sample and healthy children (HC) and possible link between attentional dysfunction and motor impairment in ADHD. METHOD: Twenty-seven drug-naive patients with ADHD and 23 HC were tested with a test battery, measuring different aspects of attention. Motor evaluation has provided three primary variables: overflow movements (OM), dysrhythmia and total speed of timed activities. RESULTS: Compared to HC, patients were impaired in a considerable number of attentional processes and showed a greater number of NSS. Significant correlations between disturbances of attention and motor abnormalities were observed in ADHD group. CONCLUSION: Our findings suggest that attentional processes could be involved in the pathophysiology of the NSS and add scientific evidence to the predictive value of NSS as indicators of the severity of functional impairment in ADHD. Given the marked improvement or complete resolution of NSS following treatment with methylphenidate, we suggest that evaluation of NSS is useful to monitor the effectiveness of pharmacological treatment with MPH in ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Atención/fisiología , Actividad Motora/fisiología , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Metilfenidato , Análisis y Desempeño de TareasRESUMEN
Epilepsy is an important cause of neurological disability in children. Nowadays, an increasing number of parents or caregivers use the Internet as a source of health information concerning symptoms, therapy, and prognosis of epilepsy occurring during childhood. Therefore, high-quality websites are necessary to satisfy this request. Using the DISCERN tool, we evaluated online information on childhood epilepsy provided by the first 50 links displayed on the Google search engine. The same links were evaluated by a team of pediatric neurologists (PNs) and by a lay subject (LS). The evaluation performed by the PNs found out that only 9.6% of the websites showed good reliability, that only 7.2% of the websites had a good quality of information on treatment choices, and that only 21.5% of the websites showed good overall quality of the content. With regard to the evaluation performed by the neutral subject, it was found that 21.4% of the websites showed good reliability, that 59.5% of the websites showed poor quality of information on treatment choices, and that only 2% of the websites showed good overall quality of the content. Our conclusion is that online information about childhood epilepsy still lacks reliability, accuracy, and relevance as well as fails to provide a thorough review of treatment choices.
Asunto(s)
Epilepsia , Internet/normas , Programas Informáticos , Niño , Humanos , Neurología , Padres , Pediatría , Pronóstico , Reproducibilidad de los Resultados , Motor de BúsquedaRESUMEN
Although attention problems have often been described in children with childhood absence epilepsy (CAE), the use of different methodological approaches, neuropsychological tests, and heterogeneous experimental groups has prevented identification of the selective areas of attention deficit in this population. In this study, we investigated several components of attention in children with CAE using a unique computerized test battery for attention performance. Participants included 24 patients with CAE and 24 controls matched for age and sex. They were tested with a computerized test battery, which included the following tasks: selective attention, impulsivity, focused attention, divided attention, alertness, and vigilance. Compared with healthy controls, patients with CAE made more commission errors in the Go/No-Go task and more omission errors in the divided attention task. Childhood absence epilepsy patients also showed decreased reaction times in measures of selective attention and a great variability of reaction times in alertness and Go/No-Go tasks. Our findings suggest that patients with CAE were impaired in tonic and phasic alertness, divided attention, selective attention, and impulsivity.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/etiología , Epilepsia Tipo Ausencia/complicaciones , Conducta Impulsiva/fisiopatología , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Diagnóstico por Computador , Epilepsia Tipo Ausencia/tratamiento farmacológico , Femenino , Humanos , Masculino , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Neurofibromatosis type 1 is a common neurogenetic disorder affecting nervous system, caused by germiline mutations of the NF1 gene. Although the clinical diagnosis of NF1 is defined by presence of cafe-au-laits spots, freckling and benign tumors (neurofibromatosis), neurocognitive impairment and neuropsychiatric disorders are reported in comorbidity. Children with NF1 show higher incidence of executive deficits, such attention, response inhibition, executive planning and problem solving, working memory, and learning impairment. In this study we examine the presence of neurological soft signs and planning function in subjects with NF1. The NSS are minor motor and sensory abnormalities without focal brain damage. METHODS: Eleven drug naïve children between 7-15 years with clinical and molecular diagnosis of NF are matched to 11 healthy controls to ass the presence of neurological soft signs and planning executive functions. NSS were assessed using Physical and Neurological Examination for Subtle Signs and the Tower of London task is performance test to assess the capacity of planning, organization and execution of a work. RESULTS: Our results revealed highest rate of NSS and planning deficit in children with NF1 compared to healthy controls. CONCLUSIONS: The motor abnormalities and planning deficit are possible markers to confirm that NF1 could be considering a neurodevelopmental disorder.
Asunto(s)
Neurofibromatosis 1 , Humanos , Niño , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/psicología , Función Ejecutiva , Memoria a Corto Plazo , Manchas Café con Leche , Examen NeurológicoRESUMEN
AIM: Evaluating whether motor skills could differentiate drug-naive subjects with two neurodevelopmental disorders: Attention-Deficit Hyperactivity Disorder (ADHD) and Asperger Syndrome (AS). METHODS: Thirty-six boys (12 with ADHD, 12 with AS and 12 with typical development) aged 8-12 were evaluated using the Physical and Neurological Examination for Subtle Signs. Three primary outcome variables were obtained as follows: (i) total speed of timed activities, (ii) total overflow and (iii) total dysrhythmia. RESULTS: Children with AS performed more slowly than those with ADHD and healthy children independently of age and IQ. Total dysrhythmia differentiates ADHD and AS children from controls. CONCLUSION: Dysfunction of the fronto-striatal-cerebellar networks related to motor control could be the physiopathological basis of the reported findings.
Asunto(s)
Síndrome de Asperger/fisiopatología , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Destreza Motora , Estudios de Casos y Controles , Niño , Humanos , Masculino , Examen Neurológico , Corteza Prefrontal/fisiopatologíaRESUMEN
OBJECTIVE: Ultra-high risk for psychosis (UHR) is considered as the condition that temporally precedes the onset of psychotic symptoms. In addition to the core symptoms, patients with schizophrenia show motor abnormalities, also known as neurological soft signs (NSS), that are considered an endophenotype for psychotic disorders and particularly for schizophrenia. Antipsychotic medications do not appear to influence NSS in individuals with schizophrenia. However, NSS in UHR subjects have been poorly studied and, to date, we do not know what effects antipsychotics have in early treated UHR subjects. Therefore, we evaluated NSS in treated UHR subjects in comparison with drug-naive UHR subjects and a group of healthy control subjects and the effect of pharmacological treatment on early treated UHR children and adolescents. PATIENTS AND METHODS: Fifteen UHR subjects receiving pharmacological treatment, 15 drug-naive UHR subjects, and 25 healthy control subjects were evaluated for NSS to analyze any differences between clinical subjects and healthy controls and to evaluate the effect of antipsychotic medications in early treated UHR subjects. RESULTS: Both clinical groups showed a greater number of NSS compared with the healthy control subjects. However, no significant differences in NSS were found between treated and drug-naive UHR subjects. CONCLUSIONS: Consistent with what has been observed in the population of patients with a first psychotic episode and/or with schizophrenia, our results support the conclusion that antipsychotic medications do not influence NSS in children and adolescents who are at high risk for psychosis.
Asunto(s)
Antipsicóticos/uso terapéutico , Trastornos Psicóticos/diagnóstico , Risperidona/uso terapéutico , Adolescente , Antipsicóticos/efectos adversos , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Proyectos Piloto , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Risperidona/efectos adversos , Esquizofrenia/tratamiento farmacológico , Psicología del EsquizofrénicoRESUMEN
Attention Deficit Hyperactivity Disorder (ADHD) is associated with social cognition impairment, executive dysfunction and motor abnormalities, consisting in the persistence of neurological soft signs (NSS). Theory of mind (ToM) and emotion recognition (ER) deficit of children with ADHD have been interpreted as a consequence of their executive dysfunction, particularly inhibitory control deficit. To our knowledge, there are not studies that evaluate the possible correlation between the ToM and ER deficit and NSS in the population with ADHD, while this association has been studied in other psychiatric disorders, such as schizophrenia. Therefore, the aim of this study was to evaluate ToM and ER and NSS in a sample of 23 drug-naïve children with ADHD and a sample of 20 healthy children and the possible correlation between social cognition dysfunction and NSS in ADHD. Our findings suggest that ToM and ER dysfunction is not a constant feature in the population with ADHD, while NSS confirmed as a markers of atypical neurodevelopment and predictors of the severity of functional impairment in children with ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Emociones , Reconocimiento en Psicología , Conducta Social , Teoría de la Mente , Adolescente , Niño , Emociones/fisiología , Femenino , Humanos , Masculino , Reconocimiento en Psicología/fisiología , Teoría de la Mente/fisiologíaRESUMEN
OBJECTIVES: Children with attention-deficit/hyperactivity disorder (ADHD) and high-functioning autism (HFA) commonly show neurological soft signs (NSS) and impairment in executive functioning (EF). Many children with HFA may experience ADHD-like symptoms, and the 2 disorders may be comorbid. Evaluating NSS and EF in drug-naive subjects with ADHD, HFA, and ADHD+HFA compared with healthy children may be critical in understanding and differentiating the biological substrates and cognitive phenotypes associated with these disorders. The goal of this study was to evaluate possible differences among these groups in motor and EF and the effects of comorbidity. METHODS: Thirty-eight drug-naive patients (13 with ADHD, 13 with HFA, 12 with ADHD+HFA) and 13 healthy controls (HC) were evaluated on measures of planning, verbal working memory, and response inhibition. Evaluation of NSS involved 3 primary variables: overflow movements (OM), dysrhythmia, and speed of timed activities. RESULTS: The group with ADHD and the group with HFA both showed impairment on measures of planning, response inhibition, and verbal working memory compared with the HC group. Moreover, the group with ADHD showed a greater number of NSS compared with the HC group, whereas the group with HFA showed greater dysrhythmia and slowness compared with the HC group. The group with ADHD+HFA showed deficits of planning and response inhibition and a greater number of NSS compared with the HC group. The group with ADHD+HFA showed greater impairment of planning compared with the other clinical groups and greater dysrhythmia compared with the group with ADHD. CONCLUSION: According to our data, the OM measure revealed a gradient in which ADHD was at one extreme (more OM) and HFA at the other extreme (less OM), whereas ADHD+HFA showed a number of OM that fell in the middle between the numbers for the ADHD and HFA groups.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno Autístico/epidemiología , Examen Neurológico , Adolescente , Niño , Comorbilidad , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas/estadística & datos numéricos , Proyectos Piloto , Factores de TiempoRESUMEN
22q11 Deletion syndrome (22q11DS) is a neurogenetic disorder, resulting from a hemizygous microdeletion on the long arm of chromosome 22. In 22q11DS, the phenotypic expression is highly variable. Approximately one-third of all individuals with 22q11DS develop schizophrenia-like psychotic disorder. Among the genes in the deleted region, catechol-O-methyltransferase (COMT) has a particular relevance for psychiatric disorders: lower COMT enzymatic activity decreases the clearance of dopamine (DA), yielding higher levels of catecholamines in the central nervous system. Deficits in myelinogenesis and dysfunctions in the DA system could justify the white matter abnormalities in motor/premotor circuits described in 22q11DS. The alterations in DA could determine the high incidence of psychiatric disorders and the presence of neurological soft signs in 22q11DS. Neurological soft signs are defined as non-normative performance on an examination of motor and sensory tasks without focal neurological deficits. COMT haploinsufficiency, DA dysfunction, and white matter abnormalities may contribute toward the presence of neurological soft signs in 22q11DS.
Asunto(s)
Síndrome de Deleción 22q11/complicaciones , Síndrome de Deleción 22q11/metabolismo , Catecol O-Metiltransferasa/genética , Dopamina/metabolismo , Trastornos Psicóticos/genética , Haploinsuficiencia , Humanos , Fenotipo , Sustancia Blanca/anomalíasRESUMEN
Neurological soft signs (NSS) are minor neurological abnormalities that can be revealed by a clinical examination focused on sensory and motor information processing. NSS include overflow movements (OMs), which are defined as involuntary movements that may accompany the production of voluntary movements. OM is generally considered to be a characteristic feature of schizophrenia. White matter abnormalities might be involved in the pathogenesis of OMs. Dopamine receptors play a role in oligodendrocytes development. There is a direct link between antipsychotic agents that bind to dopamine receptors on oligodendrocytes and the development of oligodendrocytes and myelin formation. In this paper, we review the current knowledge of the effects of antipsychotic agents on NSS in schizophrenic patients. As a result of this critical review we hypothesize that the neuroleptic actions described in this paper could explain why antipsychotic agents have no effect on the resolution of NSS in patients with schizophrenia.
Asunto(s)
Antipsicóticos/uso terapéutico , Esquizofrenia/tratamiento farmacológico , Encéfalo/metabolismo , Encéfalo/patología , Discinesias/tratamiento farmacológico , Humanos , Examen Neurológico , Oligodendroglía/metabolismo , Oligodendroglía/patología , Receptores Dopaminérgicos/metabolismo , Esquizofrenia/diagnóstico , Esquizofrenia/patologíaRESUMEN
Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BCECTS), or benign rolandic epilepsy (BRE), are the most common forms of childhood epilepsy. CAE and BCECTS are well-known and clearly defined syndromes; although they are strongly dissimilar in terms of their pathophysiology, these functional epileptic disturbances share many features such as similar age at onset, overall good prognosis, and inheritance factors. Few reports are available on the concomitance of CAE and BCECTS in the same patients or the later occurrence of generalized epilepsy in patients with a history of partial epilepsy. In most cases described in the literature, absence seizures always started after the onset of benign focal epilepsy but the contrary has never occurred yet. We describe two patients affected by idiopathic generalized epileptic syndrome with typical absences, who experienced BCECTS after remission of seizures and normalization of EEG recordings. While the coexistence of different seizure types within an epileptic syndrome is not uncommon, the occurrence of childhood absence and BCECTS in the same child appears to be extremely rare, and this extraordinary event supports the hypothesis that CAE and BCECTS are two distinct epileptic conditions. However, recent interesting observations in animal models suggest that BCECTS and CAE could be pathophysiologically related and that genetic links could play a large role.
Asunto(s)
Epilepsia Tipo Ausencia/complicaciones , Epilepsia Rolándica/complicaciones , Anticonvulsivantes/uso terapéutico , Niño , Electroencefalografía , Epilepsia Tipo Ausencia/tratamiento farmacológico , Epilepsia Tipo Ausencia/fisiopatología , Epilepsia Rolándica/tratamiento farmacológico , Epilepsia Rolándica/fisiopatología , Femenino , Humanos , MasculinoRESUMEN
Childhood absence epilepsy (CAE) has been associated with executive functions and attention deficits. To clarify the issue of neurocognitive impairments in CAE, we investigated whether specific executive functions and attention deficit patterns were present in a well-defined group of children with CAE who were taking valproic acid. Participants included 15 children with CAE and 15 healthy controls aged 8-15 years and matched for sex, age and IQ. We compared the performances of the two groups in the following neuropsychological domains: planning and problem solving (TOL), verbal fluency (FAS and CAT), verbal short-term memory (DSF), verbal working memory (DSB), visuospatial memory (Corsi Block Tapping Test) and sustained and divided attention (TMT-A and TMT-B). No differences were found between the two groups on measures of intellectual functioning, verbal short-term memory and visuospatial memory. By contrast, significant differences were found in total time of planning task, phonological and category fluency and sustained and divided attention. Future studies that systematically examine different aspects of attention and executive functions are needed to outline a clear and specific neuropsychological profile in CAE.
Asunto(s)
Atención/fisiología , Epilepsia Tipo Ausencia/fisiopatología , Función Ejecutiva/fisiología , Adolescente , Niño , Cognición , Femenino , Humanos , Masculino , Memoria , Pruebas Neuropsicológicas , Solución de Problemas/fisiologíaRESUMEN
We describe a 18-year-old female with 22q13.3 deletion syndrome characterized by an alteration of SHANK3/PROSAP2 and severe mental retardation, intense psychomotor agitation and aggressive behaviour. When the patient was given risperidone, different therapeutic results were observed: at a 6 mg dose, risperidone had no therapeutic effect and the patient's behavioural problems increased; at a low dose (1mg), risperidone treatment resulted in rapid improvement of mood and behaviour. Recent findings suggest that risperidone exerts dose-dependent effects on Glu receptors in developing rats. An altered preset of the glutamate receptors, due to the presence of a haploinsufficiency of SHANK3/PROSAP2, could explain the different results of risperidone therapy observed in our patient with 22q13.3 deletion syndrome.
Asunto(s)
Agresión/efectos de los fármacos , Antipsicóticos , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Discapacidad Intelectual/tratamiento farmacológico , Agitación Psicomotora/tratamiento farmacológico , Risperidona , Anomalías Múltiples/tratamiento farmacológico , Adolescente , Animales , Antipsicóticos/farmacología , Antipsicóticos/uso terapéutico , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Masculino , Embarazo , Ratas , Risperidona/farmacología , Risperidona/uso terapéutico , SíndromeRESUMEN
Multiple motor abnormalities have been identified in some children with Attention Deficit/Hyperactivity Disorder (ADHD). These include persistence of overflow movements, impaired timing of motor responses and deficits in fine motor abilities. Motor overflow is defined as co-movement of body parts not specifically needed to efficiently complete a task. The presence of age-inappropriate overflow may reflect immaturity of the cortical systems involved in automatic motor inhibition. Theories on overflow movements consistently implicate impairments in white matter (WM) tracts, including the corpus callosum. WM connections might be altered selectively in brain networks and thus influence motor behaviours. We reviewed the scientific contributions on overflow movements and WM abnormalities in ADHD. They suggest that WM abnormalities in motor/premotor circuits, which are important for motor response inhibition, might be responsible for overflow movements in patients with ADHD.