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1.
Scand J Psychol ; 63(4): 393-404, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35353913

RESUMO

The mass media portrayal of a muscular body type ideal has been increasingly tied to men's body image dissatisfaction. We examined the role of self-determination theory's intrinsic life goals within this body image ideal and its potential as a moderator of this dissatisfaction. We first tested the moderating effect of intrinsic life goals on the link between magazine consumption and body image dissatisfaction via an online questionnaire (Study 1; N = 826), then experimentally manipulated these goals and exposure to images of muscular male models (Study 2; N = 150). A robust protective effect of intrinsic goals on body image satisfaction was observed - the relationship between magazine consumption and body image dissatisfaction was only significant among individuals with a lower level of intrinsic life goal orientation. When participants' intrinsic goals were momentarily heightened, they reported significantly less body image dissatisfaction, compared to those not receiving a strengthening of these goals. The results are the first to find a protective effect of intrinsic life goals on men's body image, and have important implications for intervention.


Assuntos
Insatisfação Corporal , Imagem Corporal , Objetivos , Humanos , Masculino , Meios de Comunicação de Massa , Satisfação Pessoal
2.
BMC Psychiatry ; 16: 142, 2016 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-27177619

RESUMO

BACKGROUND: In China, children with Autism Spectrum Disorder (ASD) can potentially benefit from universal education policies and recent initiatives designed to address the needs of children with developmental disorders. However, adequate schooling is often unavailable for children with ASD, in part because teachers lack the knowledge and skills needed to work with this population. To better understand the current state of knowledge of ASD in China, we surveyed knowledge and attitudes regarding the disorder in preschool teachers. METHODS: A total of 471 preschool teachers in the cities of Guangzhou and Foshan, China completed questionnaires assessing participant demographics, knowledge of typical child development and knowledge of ASD, attitudes towards ASD, practices and self-perceptions of efficacy in the education of children with ASD, and awareness of organizations and intervention approaches devoted to the care of individuals with ASD. The correlation between individual- and school-level variables with current knowledge of typical child development and ASD was examined using univariate and multivariate analyses. RESULTS: The majority (84%) of participants answered correctly more than half of the questionnaire items assessing understanding of typical child development. In contrast, 83% provided inaccurate responses to more than half of the questionnaire items assessing knowledge of ASD. Knowledge of typical child development and knowledge of ASD were both associated with geographic region (teachers in Guangzhou had greater knowledge than those in Foshan, p < 0.0001). Knowledge of ASD was also associated with a higher education level (p < 0.05) and school type (p = 0.023). In general, participants believed fairly strongly in the need for greater service provision for children with ASD, and were receptive towards receiving additional specialized training. Most participants were unaware of ASD-specific organizations and empirically validated intervention approaches. CONCLUSIONS: Knowledge of ASD is lacking in preschool teachers in China, and greater teacher training and instruction is needed. Nonetheless, teachers report a willingness and motivation to gain the skills needed to maximize the educational experiences of children with ASD.


Assuntos
Transtorno do Espectro Autista/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Professores Escolares/estatística & dados numéricos , Adulto , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Autoimagem , Inquéritos e Questionários , Adulto Jovem
3.
Autism ; 20(6): 673-86, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26408634

RESUMO

Recent research examining the explanations given by the public (i.e. lay beliefs) for autism spectrum disorder often reveals a reasonably accurate understanding of the biogenetic basis of the disorder. However, lay beliefs often manifest aspects of culture, and much of this work has been conducted in western cultures. In this study, 215 undergraduate university students in Macau, a Special Administrative Region of China, completed self-report measures assessing two beliefs concerning autism spectrum disorder etiology: (1) a belief in parental factors and (2) a belief in genetic factors. Potential correlates of lay beliefs were sought in culture-specific values, and more universal social axioms. Participants were significantly more likely to endorse parenting, relative to genetic factors, as etiological. A perceived parental etiology was predicted by values of mind-body holism. Beliefs in a parental etiology were not predicted by values assessing collectivism, conformity to norms, a belief in a family's ability to obtain recognition through a child's achievement, or interpersonal harmony, nor by the social axioms measured (e.g. social cynicism, reward for application, social complexity, fate control, and religiosity). Beliefs in a genetic etiology were not predicted by either culture-specific values or social axioms. Implications of the current results are discussed.


Assuntos
Atitude Frente a Saúde , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/psicologia , Cultura , Conhecimentos, Atitudes e Prática em Saúde , Valores Sociais , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Macau , Masculino , Poder Familiar , Estudantes/psicologia , Estudantes/estatística & dados numéricos , Inquéritos e Questionários , Universidades , Adulto Jovem
4.
Asia Pac Psychiatry ; 8(3): 226-37, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26440145

RESUMO

INTRODUCTION: The Schizotypal Personality Questionnaire (SPQ) is a self-report measure assessing symptoms of schizotypy. The SPQ has been used in both normative and clinical samples and has much theoretical and empirical support. A three-factor structure of the SPQ, derived on the basis of work in schizophrenia, consisting of Cognitive-Perceptual, Interpersonal, and Disorganized factors, has been well replicated. The present study aimed to (i) validate this three-factor structure in the Chinese version of the SPQ in a sample of individuals of Chinese ethnicity, and (ii) test for invariance across sex. METHODS: A total of 209 (99 males) undergraduate university students (Mage = 19.5, SD = 1.6) were administered the SPQ. RESULTS: Confirmatory factor analysis indicated a better fit between the data and the three-factor model compared with a one-factor model. Multigroup confirmatory factor analysis also found strong measurement invariance across sex. DISCUSSION: The current results add to a growing body of literature evidencing cross-cultural validity of the SPQ and its invariance across sex. Research and clinical implications of the current results are discussed.


Assuntos
Inventário de Personalidade/normas , Esquizofrenia/diagnóstico , Inquéritos e Questionários/normas , Adolescente , Adulto , Análise Fatorial , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Adulto Jovem
6.
Childs Nerv Syst ; 31(8): 1377-85, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25922052

RESUMO

PURPOSE: In individuals with a comorbid autistic spectrum disorder and medically refractory epilepsy, vagus nerve stimulation may offer the potential of seizure control and a positive behavioral side effect profile. We aimed to examine the behavioral side effect profile using longitudinal and quantitative data and review the potential mechanisms behind behavioral changes. METHODS: We present a case report of a 10-year-old boy with autistic spectrum disorder and epilepsy, who underwent vagus nerve stimulation subsequent to unsuccessful treatment with antiepileptic medication. RESULTS: Following vagus nerve stimulation implantation, initial, if temporary, improvement was observed in seizure control. Modest improvements were also observed in behavior and development, improvements which were observed independent of seizure control. CONCLUSIONS: Vagus nerve stimulation in autistic spectrum disorder is associated with modest behavioral improvement, with unidentified etiology, although several candidates for this improvement are evident.


Assuntos
Transtorno Autístico/terapia , Epilepsia/terapia , Estimulação do Nervo Vago/métodos , Transtorno Autístico/complicações , Criança , Epilepsia/complicações , Seguimentos , Humanos , Masculino , Infecções Estreptocócicas/complicações
7.
Asia Pac Psychiatry ; 7(2): 127-34, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25355450

RESUMO

INTRODUCTION: Somatic presentations of distress are common cross-culturally, although perhaps more so in Asian cultures. Somatic presentations of distress may be associated with alexithymia, a difficulty in experiencing and expressing emotions. Although the constructs of somatization and alexithymia have been examined in depth both within and across cultures, there is minimal information on culture-specific behaviors utilized to cope with stress in individuals who tend to somaticize distress or are alexithymic. The current report investigates the association between somatization and alexithymia, and a culture-specific behavior of traditional Chinese medicinal herbal tea consumption, in a nonclinical, young adult sample. METHODS: A sample of 222 undergraduate university students of Chinese ethnicity completed self-report measures of somatization and the related construct of somatosensory amplification, alexithymia, and attitude toward the consumption of herbal tea possessing traditional Chinese medicinal value. RESULTS: After controlling for gender, alexithymia was significantly correlated with somatization (r[220] = 0.29, P < 0.05) and somatosensory amplification (r[220] = 0.19, P < 0.05). Attitudes toward herbal tea consumption were significantly correlated with somatosensory amplification (r[220] = 0.16, P < 0.05). DISCUSSION: The connection between alexithymia and somatization was confirmed in the current report in a nonclinical sample. A culture-specific behavior (consumption of traditional Chinese medicinal herbal tea) was significantly associated with somatosensory amplification. Potential etiologies and implications of the current findings are discussed.


Assuntos
Sintomas Afetivos/psicologia , Atitude Frente a Saúde , Medicina Tradicional Chinesa , Transtornos Somatoformes/psicologia , Chás de Ervas , Adolescente , Adulto , Sintomas Afetivos/complicações , Povo Asiático , Feminino , Humanos , Masculino , Autorrelato , Transtornos Somatoformes/complicações , Estudantes , Inquéritos e Questionários , Adulto Jovem
8.
Aust N Z J Psychiatry ; 46(11): 1053-7, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22696549

RESUMO

OBJECTIVE: Somatic presentations of distress are common cross-culturally and are thought to predominate in Asian cultures such as that of China. From an etic perspective, researchers utilizing empirically validated standardized assessment measures find that somatic symptoms are no more common in individuals of Chinese descent than they are in individuals of European descent. In contrast, patient presentations are heavily influenced by culture and are associated with patterns of illness behavior. The objective of the current review is to determine the culture-specific factors contributing to somatic presentations and descriptions of distress in China. METHOD: The current review was based on a literature search of PubMed and PsychInfo using the terms 'China,' 'Asia,' 'somatoform,' 'somatization,' and 'psychogenic.' RESULTS: Factors contributing to somatic presentations of distress in China include stigma and help-seeking behavior, and assessment approaches that ignore culture-specific patterns of symptom reporting, fail to incorporate somatic metaphor and Chinese conceptualizations of distress that emphasize bodily sensation, and ignore the role that culture-specific normative data and culture specific response patterns may produce on assessment results. CONCLUSIONS: From an emic perspective, there are numerous factors contributing to the appearance of a predominantly somatic presentation of distress in China. Implications for clinical practice are discussed.


Assuntos
Povo Asiático/psicologia , Transtornos Somatoformes/etnologia , Estresse Psicológico/etnologia , China , Cultura , Humanos , Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Estigma Social , Estresse Psicológico/fisiopatologia
9.
Soc Psychiatry Psychiatr Epidemiol ; 47(3): 395-8, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21293843

RESUMO

BACKGROUND: The prevalence of autism spectrum disorders (ASD) is generally somewhat lower in countries outside of North America and Europe. While there are culture-specific patterns of social cognitive processing, the influence of such patterns upon ASD prevalence has yet to be fully explored. METHODS: A comprehensive literature search for original articles reporting ASD prevalence was undertaken. Data across studies were compared with a particular focus on variables of geographic residence and ethnicity. RESULTS: ASD prevalence varies across countries in a manner that appears to suggest that the greatest influence is due to methodological variables. The nature of a potential influence of culture-specific patterns of cognitive processing upon prevalence remains unknown. The available little data concerning the association between ethnicity and prevalence are limited to studies within the United States (US) showing differences in children of Hispanic descent relative to Whites, a finding for which a definitive explanation is lacking. CONCLUSIONS: Available evidence suggests that methodological factors are largely responsible for differences in ASD prevalence across studies. The much discussed increase in prevalence in ASD has been observed worldwide, suggesting that the refinement of diagnostic methodology and/or broadening diagnostic concept is not limited to Western countries. Within individual countries, only in the US has the influence of ethnicity upon ASD prevalence been examined in depth. In the US, children of Hispanic descent have the lowest prevalence of ASD, while Whites tend to have the highest prevalence of ASD. Hypothesized etiological factors for such prevalence differences include methodological factors, socioeconomic variables, and bias.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/etnologia , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Pré-Escolar , China/epidemiologia , Comparação Transcultural , Humanos , Omã/epidemiologia , Suécia/epidemiologia , Reino Unido/epidemiologia , Estados Unidos/epidemiologia
10.
J Genet Psychol ; 172(1): 56-66, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21452752

RESUMO

The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.


Assuntos
Síndrome Acrocalosal/diagnóstico , Transtornos do Comportamento Infantil/diagnóstico , Epilepsias Parciais/diagnóstico , Epilepsia Parcial Complexa/diagnóstico , Epilepsia Tônico-Clônica/diagnóstico , Deficiência Intelectual/diagnóstico , Ajustamento Social , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/psicologia , Síndrome Acrocalosal/genética , Síndrome Acrocalosal/psicologia , Criança , Transtornos do Comportamento Infantil/genética , Transtornos do Comportamento Infantil/psicologia , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/genética , Transtornos Globais do Desenvolvimento Infantil/psicologia , Auxiliares de Comunicação para Pessoas com Deficiência , Avaliação da Deficiência , Epilepsias Parciais/genética , Epilepsias Parciais/psicologia , Epilepsia Parcial Complexa/genética , Epilepsia Parcial Complexa/psicologia , Epilepsia Tônico-Clônica/genética , Epilepsia Tônico-Clônica/psicologia , Face/anormalidades , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/psicologia , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/psicologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/psicologia , Micrognatismo/diagnóstico , Micrognatismo/genética , Micrognatismo/psicologia , Pescoço/anormalidades , Testes Neuropsicológicos , Socialização
11.
Child Neuropsychol ; 16(2): 202-8, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19813116

RESUMO

This study examines the neuropsychological profile of a boy with congenital central hypoventilation syndrome (CCHS) without a paired-like homeobox gene (PHOX2B) mutation. CCHS is a rare disorder of autonomic nervous system development characterized by an impaired ventilatory response to hypercarbia and hypoxemia. Mild intellectual deficits are common but a specific cognitive profile is not established in CCHS. We describe a nonverbal learning disorder as a CCHS endophenotype and recommend that detailed neuropsychological testing be performed on all individuals with CCHS. Defining the psycho-educational needs in CCHS may avert compounding the emotional and medical stresses of this already debilitating disorder.


Assuntos
Doenças do Sistema Nervoso Autônomo/congênito , Hipoventilação/congênito , Hipoventilação/complicações , Deficiências da Aprendizagem/complicações , Adolescente , Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/genética , Transtornos do Comportamento Infantil/complicações , Transtornos do Comportamento Infantil/genética , Cognição , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/genética , Idioma , Deficiências da Aprendizagem/genética , Masculino , Mutação , Testes Neuropsicológicos , Síndrome , Fatores de Transcrição/genética
12.
Epilepsy Behav ; 13(1): 237-42, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18448391

RESUMO

The convergent validity and clinical utility of two parent-report child behavior rating scales, the Behavior Assessment System for Children-Parent Rating Scales (BASC-PRS) and Child Behavior Checklist/Ages 6-18 (CBCL), in children with epilepsy were examined. Analogous broadband and narrowband behavior rating scales were evaluated in 60 subjects aged 6-17 years (mean=11.0, SD=3.4) with Full Scale IQ >70. Correlations for each similarly labeled scale were statistically significant (P<0.002) and greater with broadband (r=0.71-0.79) than with narrowband (r=0.41-0.78) scales. The BASC captured significantly less composite internalizing symptoms (P<0.002), but more unusual thought processes (P<0.0002) and attention problems versus a CBCL DSM-oriented attention-deficit/hyperactivity disorder scale (P<0.002). Variation in the correlations between measures may stem from underlying differences between rationally-and empirically-derived approaches to test construction. Both the CBCL and BASC have diagnostic and clinical utility in assessing behavior problems in pediatric epilepsy.


Assuntos
Transtornos do Comportamento Infantil/psicologia , Epilepsia/complicações , Epilepsia/psicologia , Serviços de Saúde Mental , Relações Pais-Filho , Testes Psicológicos/estatística & dados numéricos , Adolescente , Criança , Comportamento Infantil , Transtornos do Comportamento Infantil/etiologia , Feminino , Humanos , Testes de Inteligência , Masculino , Escalas de Graduação Psiquiátrica , Reprodutibilidade dos Testes , Estatísticas não Paramétricas , Inquéritos e Questionários
13.
Epilepsia ; 48(8): 1625-8, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17484758

RESUMO

Multicenter, retrospective analysis of 70 subjects with TSC following surgery for relief of epilepsy revealed significant associations between younger age at seizure onset, present/prior history of infantile spasms, interictal focality (bilateral versus unilateral), and absence of residual postoperative predominant tuber, and poorer postoperative outcome (p < 0.01). Ictal multifocality, mental retardation, and discordant EEG and MRI data showed a negative trend toward outcome, but were not significant.


Assuntos
Esclerose Tuberosa/cirurgia , Idade de Início , Mapeamento Encefálico , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Córtex Cerebral/cirurgia , Criança , Pré-Escolar , Eletroencefalografia/estatística & dados numéricos , Epilepsias Parciais/patologia , Epilepsias Parciais/fisiopatologia , Epilepsias Parciais/cirurgia , Epilepsia/patologia , Epilepsia/fisiopatologia , Epilepsia/cirurgia , Feminino , Lateralidade Funcional/fisiologia , Humanos , Imageamento por Ressonância Magnética/estatística & dados numéricos , Masculino , Complicações Pós-Operatórias , Cuidados Pré-Operatórios , Estudos Retrospectivos , Resultado do Tratamento , Esclerose Tuberosa/patologia , Esclerose Tuberosa/fisiopatologia
14.
Pediatr Neurol ; 36(5): 312-7, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17509463

RESUMO

Neuropsychologic test scores from a group of children with epilepsy were compared to the standardization sample of the NEPSY: A Developmental Neuropsychological Assessment, a relatively new neuropsychologic testing instrument. Nineteen children with a confirmed diagnosis of epilepsy (11 boys, 8 girls), aged 3-12 years, participated. Attention/executive function, language, sensorimotor, visuospatial, and learning/memory domain scores were examined, as well as individual subtest scores. The mean scores on the attention/executive function, language, and sensorimotor domains were >1.5 standard deviations below the normative mean, and significantly lower than the mean visuospatial domain score (P < 0.05). The mean language domain score was also significantly lower than the learning/memory score (P < 0.05). Mean subdomain scores varied, with impairment on two tasks measuring rapid automatic processing and graphomotor precision, respectively. On the majority of subtests, 15% or more of the sample scored in the impaired range. Associations between patient age, seizure onset age, seizure frequency, and antiepileptic medication status were not associated with outcome, perhaps due in part to the small sample size. The strengths and weaknesses of the NEPSY as a measure of neuropsychologic functioning in children with epilepsy, and its utility in highlighting risks to academic achievement are discussed.


Assuntos
Epilepsia/fisiopatologia , Epilepsia/psicologia , Testes Neuropsicológicos , Fatores Etários , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Epilepsia/tratamento farmacológico , Feminino , Humanos , Masculino , Processos Mentais/fisiologia , Desempenho Psicomotor/fisiologia , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
15.
Epilepsia ; 48(3): 539-45, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17284300

RESUMO

PURPOSE: Functional mapping of eloquent cortex with electrical neurostimulation is used both intra- and extraoperatively to tailor resections. In pediatric patients, however, functional mapping studies frequently fail to localize language. Wada testing has also been reported to be less sensitive in children. METHODS: Thirty children (4.7 - 14.9 years) and 18 adult controls (18-59 years) who underwent extraoperative language mapping via implanted subdural electrodes at the NYU Comprehensive Epilepsy Center were included in the study. Ten children and 14 adults underwent preoperative Wada testing. Success of the procedures was defined as the identification of at least one language site by neurostimulation mapping and determination of hemispheric language dominance on the Wada test. RESULTS: In children younger than 10.2 years, cortical stimulation identified language cortex at a lower rate than was seen in children older than 10.2 years and in adults (p<0.05). This threshold, demonstrated by survival and chi2 analysis, was sharply defined in our data set. Additionally, Wada testing was more likely to be successful than was extraoperative mapping in this younger age group (p<0.05). CONCLUSIONS: Analysis of our series demonstrates that language cortex is less likely to be identified in children younger than 10 years, suggesting that alternatives to the current methods of cortical electrical stimulation, particularly the use of preoperative language lateralization, may be required in this age group.


Assuntos
Amobarbital , Córtex Cerebral/fisiopatologia , Córtex Cerebral/cirurgia , Epilepsia/fisiopatologia , Lateralidade Funcional/fisiologia , Idioma , Adolescente , Adulto , Fatores Etários , Amobarbital/farmacologia , Mapeamento Encefálico/métodos , Artéria Carótida Interna , Córtex Cerebral/efeitos dos fármacos , Criança , Pré-Escolar , Estimulação Elétrica , Epilepsia/cirurgia , Feminino , Humanos , Injeções Intra-Arteriais , Cuidados Intraoperatórios , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios
16.
Seizure ; 15(7): 558-62, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16935530

RESUMO

In patients with tuberous sclerosis complex (TSC), the high rates of mental retardation are associated with cortical tubers, seizure activity, and genetic factors. The goal of the study was to investigate the relationship between bilateral cortical tubers and seizure variables and mental retardation in individuals with TSC. The records of 27 patients with TSC (age 6 months to 33 years) undergoing neuropsychological assessment and the following clinical variables were examined: bilateral versus non-bilateral cortical tubers, the age of seizure onset, and presence of infantile spasms. Results were statistically analyzed. Bilateral cortical tubers (p=0.02) and early age of seizure onset (p=0.04) were significantly related to impaired cognitive functioning. Only one of the seven patients with normal cognitive functioning had bilateral tubers, whereas 13/21 patients with intellectual impairment had bilateral tubers. Patients with normal cognitive functioning experienced a mean age of seizure onset after 6 years. A trend was observed between infantile spasms and cognitive functioning (p=0.06); the lack of statistical significance likely reflects the small sample size. Neither age nor gender was related to cognitive status. Further investigation incorporating additional neuroimaging factors, antiepileptic treatment effects, and genetic variables, is needed.


Assuntos
Transtornos Cognitivos/etiologia , Epilepsia/etiologia , Deficiência Intelectual/etiologia , Esclerose Tuberosa/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Inteligência , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos , Espasmos Infantis/etiologia , Esclerose Tuberosa/patologia
17.
Pediatrics ; 117(5): 1494-502, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16651302

RESUMO

OBJECTIVE: Tuberous sclerosis complex (TSC) is associated with medically refractory epilepsy and developmental delay in children and usually results from cortical tubers. Seizures that begin in young patients are often refractory and may contribute to development delay. Functional outcome is improved when seizures are controlled at an early age. Previous reports have shown modest benefit from surgical resection of single tubers/seizure foci in older children; however, many children with TSC develop uncontrolled seizures before age 1. To identify patients who might benefit from surgery and to maximize outcome, we used a novel surgical approach in young children that consists of invasive intracranial monitoring, which is typically 3-staged and often bilateral. METHODS: Of 110 consecutive children who underwent epilepsy surgery by a single surgeon in the past 6 years, 25 patients (9 boys and 16 girls) had TSC. At the time of their first surgery at our institution, they were a median age of 4.0 years. A total of 31 separate admissions for epilepsy surgery in these 25 patients were identified. Bilateral electrode placement was performed in 13 children whose seizures could not be lateralized definitively preoperatively, and 22 patients underwent 3-stage surgeries. RESULTS: At 6 months or longer after the initial resection, 21 (84%) children were class I, 2 (8%) children were class II, and 2 (8%) children were class IV. At a mean follow-up of 28 months, 17 (68%) children were class I, 6 (24%) were class II, and 2 (8%) were class III. Four of the 5 children who initially were rejected as surgical candidates because of multifocality and who required initial bilateral electrode study are now seizure-free. CONCLUSIONS: This approach can help to identify both primary and secondary epileptogenic zones in young TSC patients with multiple tubers. Multiple or bilateral seizure foci are not necessarily a contraindication to surgery. Long-term follow-up will determine whether this approach has durable effects.


Assuntos
Epilepsias Parciais/cirurgia , Esclerose Tuberosa/complicações , Adolescente , Mapeamento Encefálico , Criança , Pré-Escolar , Eletrodos Implantados , Epilepsias Parciais/etiologia , Feminino , Humanos , Masculino , Monitorização Fisiológica , Procedimentos Neurocirúrgicos/métodos
18.
Epileptic Disord ; 7(4): 321-6, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16338674

RESUMO

In Tuberous sclerosis complex (TSC), neurological dysfunction, usually in association with epilepsy, is responsible for the greatest degree of disease-related disability. Epilepsy surgery is increasingly recognized as a therapeutic option given the often medication-resistant nature of the disease. Seven subjects with medically refractory epilepsy associated with TSC, who underwent surgery at a tertiary care epilepsy center and in whom both preoperative and postoperative neuropsychological data were available, were examined. The Vineland Adaptive Behavior Scales, and in one case, the WISC-III were utilized. Postoperatively, the composite standard scores declined in six of the seven subjects, although for the most part this decline was quite modest (8 points or less in 5/6 subjects). The mean overall developmental/intellectual quotients were comparable across assessments (preoperative M = 55, SD = 20.3; postoperative M = 49 SD = 16.6). Good outcomes appeared to be related to seizure relief. Age estimates of developmental level indicated developmental progress in the majority of subjects in the current sample, and may yield greater clinical information for individuals with developmental delay than do standard scores.


Assuntos
Deficiências do Desenvolvimento/etiologia , Epilepsias Parciais/cirurgia , Esclerose Tuberosa/cirurgia , Adulto , Anticonvulsivantes/uso terapêutico , Criança , Transtornos do Comportamento Infantil/etiologia , Pré-Escolar , Terapia Combinada , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/etiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de Doença , Resultado do Tratamento , Esclerose Tuberosa/complicações
19.
Epilepsy Behav ; 7(2): 133-42, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15996528

RESUMO

Neurocutaneous syndromes are disorders characterized by a neurological abnormality and cutaneous manifestations. Three of the more common neurocutaneous syndromes are Sturge-Weber syndrome, tuberous sclerosis, and neurofibromatosis. This review focuses on the cognitive and behavioral features of these syndromes.


Assuntos
Comportamento/fisiologia , Cognição/fisiologia , Melanose/etiologia , Síndromes Neurocutâneas/fisiopatologia , Humanos , Melanose/psicologia , Síndromes Neurocutâneas/psicologia , Neurofibromatoses/etiologia , Síndrome de Sturge-Weber , Esclerose Tuberosa
20.
Genet Med ; 7(2): 119-23, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15714079

RESUMO

PURPOSE: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. METHODS: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. RESULTS: Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. CONCLUSIONS: Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later-onset of expression results from the presence of at least one allele (usually the G269S mutation), associated with residual enzyme (beta-hexosaminidase A) activity. A positive family history is a valuable clue, enabling early diagnosis. Nonspecific cerebellar atrophy on brain imaging is another important finding. This entity should be considered among patients presenting with speech, gait, and balance problems, and those with psychiatric disorders even when focal neurologic deficits may be initially absent. Accurate diagnosis will permit appropriate genetic counseling regarding disease prognosis and reproductive risks.


Assuntos
Transtornos Psicóticos/etiologia , Transtornos Psicóticos/genética , Doença de Tay-Sachs/complicações , Doença de Tay-Sachs/genética , Adolescente , Adulto , Idade de Início , Cerebelo/patologia , Feminino , Genótipo , Heterozigoto , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Fenótipo , Exame Físico , Doença de Tay-Sachs/psicologia
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