RESUMO
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction, executive functioning, sensory-perceptual abilities and behaviour, such as anxious/depressed states, attention problems, aggression, or somatic complains. However, the dynamic relationship between these dimensions remains to be addressed. Therefore, we explored the link between executive functions, sensory processing and behaviour in 79 children and adolescents with ASD. Results showed significant associations between all dimensions-executive functions, sensory processing and behaviour. Furthermore, using structural equation modelling methods, we observed a mediation effect of executive functioning, specifically the domain pertaining to emotion regulation and control, and in the relationship between sensory processing abnormalities and behavioural problems. We discuss the importance of emotion regulation as a mediator between sensory processing and behavioural impairments and its impact in social competence in ASD.
Assuntos
Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Comportamento Infantil/psicologia , Função Executiva/fisiologia , Sensação/fisiologia , Adolescente , Escala de Avaliação Comportamental , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
Abnormal patterns of touch processing have been linked to core symptoms in ASD. This study examined the relation between tactile processing patterns and social problems in 44 children and adolescents with ASD, aged 6-14 (M = 8.39 ± 2.35). Multiple linear regression indicated significant associations between touch processing and social problems. No such relationships were found for social problems and autism severity. Within touch processing, patterns of hyper-responsiveness and hypo-responsiveness best predicted social problems, whereas sensory-seeking did not. These results support that atypical touch processing in individuals with ASD might be contributing to the social problems they present. Moreover, it the need to explore more in depth the contribution of sensory features to the ASD phenotype.
Assuntos
Transtorno do Espectro Autista/fisiopatologia , Comportamento Social , Percepção do Tato , Adolescente , Transtorno do Espectro Autista/psicologia , Criança , Feminino , Humanos , Masculino , TatoRESUMO
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans. Clinical motor evaluation was performed through the Scale for the Assessment and Rating of Ataxia (SARA). FDG-PET was carried out using a voxel-by-voxel and region-of-interest analysis. MRI evaluation was based on visual inspection and volumetric analysis. RESULTS: SARA ranged from 0 to 24.5 (4 patients asymptomatic, 3 with unspecific symptoms, and 13 with cerebellar signs). FDG-PET revealed hypometabolism in the asymptomatic stage in the vermis and right cerebellar hemisphere. In the ataxic stage, hypometabolism spread to both cerebellar hemispheres and the brain stem. MRI was normal in asymptomatic and preataxic individuals and showed superior cerebellar vermis atrophy early in the ataxic stage, diffuse cerebellar atrophy some years into the disease course, and a pattern of olivopontocerebellar atrophy in the oldest patients. There was no significant cerebellar atrophy in patients younger than 50 years. CONCLUSIONS: We present the first FDG-PET study of SCA36 and one of the largest neuroimaging study of SCAs. Our results revealed neuronal dysfunctions in the vermis and right cerebellar hemisphere as soon as a decade before the onset of motor symptoms. In the ataxic stage, dysfunctions spread to both hemispheres and the brain stem. © 2016 International Parkinson and Movement Disorder Society.
Assuntos
Tronco Encefálico/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Progressão da Doença , Imageamento por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons/métodos , Índice de Gravidade de Doença , Ataxias Espinocerebelares/diagnóstico , Adulto , Idoso , Tronco Encefálico/metabolismo , Tronco Encefálico/patologia , Vermis Cerebelar/diagnóstico por imagem , Vermis Cerebelar/metabolismo , Vermis Cerebelar/patologia , Cerebelo/metabolismo , Cerebelo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/metabolismo , Ataxias Espinocerebelares/patologiaRESUMO
The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy number analysis allowed us the detection of two novel and partially overlapping deletions in two unrelated families. In Family 1, a 4q13.1-q13.2 deletion of 3.84 Mb was identified in a mother with mild intellectual disability and in her two children, both with mild intellectual disability and attention deficit hyperactivity disorder. In Family 2, a de novo 4q13.2-q13.3 deletion of 6.81 Mb was detected in a female patient, born to unaffected parents, with a diagnosis of mild intellectual disability, behavioral disorder and facial dysmorphism. The shortest region of overlap between these two aberrations is located at chromosome 4q13.2 and includes 17 genes amongst of which we suggest UBA6 (ubiquitin-like modifier-activating enzyme 6) as a strong candidate gene for these phenotypes.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 4/genética , Deficiência Intelectual/genética , Transtornos Mentais/genética , Enzimas Ativadoras de Ubiquitina/genética , Adulto , Criança , Hibridização Genômica Comparativa , Família , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/patologia , Masculino , Transtornos Mentais/patologia , Fenótipo , PrognósticoRESUMO
Williams syndrome is characterized by impairments in executive functions (EFs). However, it remains unknown how distinct types of EFs relate to intelligence in this syndrome. The present study analyzed performance on working memory, inhibiting and shifting, and its links to IQ in a sample of 17 individuals with WS, and compared them with a group of 17 typically developing individuals matched on chronological age and gender. In conclusion, our results suggest that working memory, inhibiting, and shifting relate differently to intelligence in WS as well as in typical development, with working memory being the EF most closely related to intelligence in both groups. Notably, the magnitude of the associations between the three EFs and IQ was substantially higher in the WS group than in the TD group, bringing further confirmation to the notion that frontal lobe impairments may produce a general compromise of several EFs.
Assuntos
Função Executiva/fisiologia , Lobo Frontal/fisiopatologia , Inteligência/fisiologia , Síndrome de Williams/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Memória de Curto Prazo/fisiologia , Inibição Neural/fisiologia , Teste de Stroop , Escalas de Wechsler , Adulto JovemRESUMO
Luce y colaboradores formularon un modelo para explicar el papel de las emociones en la decisión. Nuestro objetivo consiste en validar este modelo en un contexto real y empleando instrumentos de evaluación desarrollados dentro de la teoría de Lazarus. Empleamos una muestra de 154 participantes a los que preguntamos por una decisión que hubiesen tomado recientemente y de la que evaluamos: valoración primaria y secundaria; potencial de emoción negativa; nivel de ansiedad y afecto negativo; y tendencia a la evitación. Nuestros datos apoyan la relación entre valoración primaria y el potencial de emoción negativa, no así la acción conjunta de la valoración primaria y secundaria sobre el estrés en los decisores. No encontramos una mayor tendencia a evitar en los individuos con mayores niveles de estrés (AU)
Luce et al. developed a model to explain the role of emotions in decision making process. Our aim is to validate this model in real situations, using evaluation instruments based on Lazarus theoretical framework. 154 people were asked about a decision they had recently taken, evaluating: primary and secondary appraisal, negative emotion associated potential, stress and negative affection level, and avoidance tendency. Data confirmed that primary valuation is related to negative affection level; on the other hand, on the contrary, the combined effect of primary and secondary valuation on the stress level of decision makers is not confirmed. We didnt find higher avoidance tendency in subjects with higher stress levels (AU)