Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 85
Filtrar
1.
Public Health ; 225: 254-257, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37949017

RESUMO

International migration of healthcare workers is well established and has become a means of maintaining service quality in many high income countries. In recent years, there has been a dramatic increase in recruitment of health personnel who have been trained abroad, including from the poorest countries in the world. In this article, using General Medical Council (GMC) data, we chart the growth in numbers of international staff working in the United Kingdom, where since 2018, over half of all new GMC registrations have been of doctors trained abroad. There is evidence that this migration of health staff results in poorer health service provision in low and middle income countries, as well as substantial economic impacts in these countries that have invested in training their health workforce. Recruiting governments have argued that remittances compensate for the loss of personnel, and that training opportunities can enable skills transfer to countries with weaker health systems. However, we found that the costs to the source countries dwarfed remittances, and that only a tiny fraction of people who move to take up posts in wealthier countries ever return to their countries of origin to work. We conclude that in addition to the investment in health systems (and workforce development) in low and middle income countries as part of Official Development Assistance for Health, there is an urgent need to increase training of nurses and doctors so that damaging migration is no longer relied upon to fill gaps in healthcare personnel.


Assuntos
Saúde Global , Médicos , Humanos , Pessoal de Saúde , Emigração e Imigração , Mão de Obra em Saúde
2.
Sci Total Environ ; 887: 164025, 2023 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-37169188

RESUMO

Per- and polyfluoroalkyl substances (PFAS) are now widespread in the environment. Globally, airfields and paved firefighting training surfaces are particularly affected due to extensive use of aqueous film forming foams (AFFF). This PFAS contamination in exposed concrete and asphalt has not been widely addressed. This review focusses on PFAS interaction with concrete and asphalt, traversing extraction, analytical identification/quantification, PFAS fractionation via differential adsorption on organic and inorganic substrates, and reuse options for contaminated concrete and asphalt. A total of 24 knowledge gaps and management challenges for concrete and asphalt characterisation and management have been identified.

3.
J Intellect Disabil Res ; 63(5): 477-488, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30993819

RESUMO

BACKGROUND: The phenotype of children with XXYY has predominantly been defined by comparison to other sex chromosome aneuploidies trisomies affecting male children; however, the intellectual ability of children with XXYY is lower than children with other sex chromosome aneuploidies trisomies. It is not known to what extent the phenotype identified to date is specific to XXYY, rather than a reflection of lower IQ. This study evaluates the mental health and behaviour of children with XXYY, in comparison to children with intellectual disabilities of heterogeneous genetic origin. METHODS: Fifteen children with XXYY and 30 controls matched for age (4-14 years), sex and intellectual ability were ascertained from the IMAGINE ID study. IMAGINE ID participants have intellectual disabilities due to genetic anomalies confirmed by National Health Service Regional Genetic Centre laboratories. The mental health and behaviour of participants was examined with the Development and Well-being Assessment and the Strengths and Difficulties Questionnaire. RESULTS: Children with XXYY experienced significantly more frequent and intense temper outbursts than the control group. CONCLUSION: Our results suggest that temper outbursts may be specifically associated with the XXYY phenotype. These problems have a significant impact on the daily lives of boys with XXYY and their families. It is crucial to ensure that families are well supported to manage these difficulties.


Assuntos
Ira/fisiologia , Deficiências do Desenvolvimento/fisiopatologia , Deficiência Intelectual/fisiopatologia , Humor Irritável/fisiologia , Síndrome de Klinefelter/fisiopatologia , Comportamento Problema , Comportamento Autodestrutivo/fisiopatologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Deficiências do Desenvolvimento/complicações , Humanos , Deficiência Intelectual/complicações , Síndrome de Klinefelter/complicações , Masculino , Comportamento Autodestrutivo/etiologia
4.
J Autism Dev Disord ; 48(7): 2293-2307, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29423608

RESUMO

Group social skills interventions (GSSIs) are a commonly offered treatment for children with high functioning ASD. We critically evaluated GSSI randomised controlled trials for those aged 6-25 years. Our meta-analysis of outcomes emphasised internal validity, thus was restricted to trials that used the parent-report social responsiveness scale (SRS) or the social skills rating system (SSRS). Large positive effect sizes were found for the SRS total score, plus the social communication and restricted interests and repetitive behaviours subscales. The SSRS social skills subscale improved with moderate effect size. Moderator analysis of the SRS showed that GSSIs that include parent-groups, and are of greater duration or intensity, obtained larger effect sizes. We recommend future trials distinguish gains in children's social knowledge from social performance.


Assuntos
Transtorno do Espectro Autista/terapia , Terapia Comportamental/métodos , Habilidades Sociais , Terapia Socioambiental/métodos , Adolescente , Adulto , Transtorno do Espectro Autista/reabilitação , Criança , Feminino , Humanos , Masculino , Ensaios Clínicos Controlados Aleatórios como Assunto
5.
Mol Psychiatry ; 23(2): 263-270, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28044064

RESUMO

Difficulties in social communication are part of the phenotypic overlap between autism spectrum disorders (ASD) and schizophrenia. Both conditions follow, however, distinct developmental patterns. Symptoms of ASD typically occur during early childhood, whereas most symptoms characteristic of schizophrenia do not appear before early adulthood. We investigated whether overlap in common genetic influences between these clinical conditions and impairments in social communication depends on the developmental stage of the assessed trait. Social communication difficulties were measured in typically-developing youth (Avon Longitudinal Study of Parents and Children, N⩽5553, longitudinal assessments at 8, 11, 14 and 17 years) using the Social Communication Disorder Checklist. Data on clinical ASD (PGC-ASD: 5305 cases, 5305 pseudo-controls; iPSYCH-ASD: 7783 cases, 11 359 controls) and schizophrenia (PGC-SCZ2: 34 241 cases, 45 604 controls, 1235 trios) were either obtained through the Psychiatric Genomics Consortium (PGC) or the Danish iPSYCH project. Overlap in genetic influences between ASD and social communication difficulties during development decreased with age, both in the PGC-ASD and the iPSYCH-ASD sample. Genetic overlap between schizophrenia and social communication difficulties, by contrast, persisted across age, as observed within two independent PGC-SCZ2 subsamples, and showed an increase in magnitude for traits assessed during later adolescence. ASD- and schizophrenia-related polygenic effects were unrelated to each other and changes in trait-disorder links reflect the heterogeneity of genetic factors influencing social communication difficulties during childhood versus later adolescence. Thus, both clinical ASD and schizophrenia share some genetic influences with impairments in social communication, but reveal distinct developmental profiles in their genetic links, consistent with the onset of clinical symptoms.


Assuntos
Transtorno do Espectro Autista/genética , Esquizofrenia/genética , Comportamento Verbal/fisiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/fisiopatologia , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Comunicação , Feminino , Estudo de Associação Genômica Ampla , Humanos , Idioma , Estudos Longitudinais , Masculino , Herança Multifatorial/genética , Fatores de Risco , Esquizofrenia/fisiopatologia , Comportamento Social
6.
Br J Psychiatry ; 196(4): 282-9, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20357304

RESUMO

BACKGROUND: Parent and teacher data, from questionnaire surveys, suggest that school-identified disruptive children often have pragmatic language deficits of an autistic type. AIMS: This replication study aimed to confirm earlier findings, using individual clinical assessment to investigate traits of autism-spectrum disorder in disruptive children. METHOD: Persistently disruptive children (n = 26) and a comparison group (n = 22) were recruited from primary schools in a deprived inner-city area. Measures included standardised autism diagnostic interviews (with parents) and tests of IQ, social cognition, theory of mind and attention (with children). RESULTS: The disruptive children possessed poorer pragmatic language skills (P<0.0001) and mentalising abilities (P<0.05) than comparisons. Nine disruptive children (35%) met ICD-10 criteria for atypical autism or Asperger syndrome. CONCLUSIONS: Many persistently disruptive children have undetected disorders of social communication, which are of potential aetiological significance.


Assuntos
Transtornos do Comportamento Infantil/etiologia , Transtornos Globais do Desenvolvimento Infantil/psicologia , Transtorno da Conduta/etiologia , Adolescente , Criança , Transtornos do Comportamento Infantil/psicologia , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Comunicação , Transtorno da Conduta/psicologia , Feminino , Humanos , Relações Interpessoais , Entrevista Psicológica , Londres , Masculino , Áreas de Pobreza , Psicometria , Percepção Social , Teoria da Mente
7.
J Neuropsychol ; 2(1): 27-45, 2008 03.
Artigo em Inglês | MEDLINE | ID: mdl-19334303

RESUMO

A commonly used test of non-verbal memory, which measures recognition for unfamiliar face pictures, was developed by Warrington (1984), the Recognition Memory for Faces (RMF) test. The task has been widely used in adults in relation to neurological impairment of face recognition. We examined the relationship of RMF scores to age in 500 young people aged between 6 and 16 years. A.linear relationship obtained between 6 and 10 years, followed by a 'plateau' between the ages of 10 and 13, followed by further improvement. Abilities on the test correlated with both verbal and non-verbal intelligence, but the nonlinear function relating age and RMF survived partialling for intelligence in the younger age groups. The improvement of the adolescents compared with older children also survived partialling for IQ. We found no significant influence of gender or reported pubertal status (which was not obtained for all participants) on RMF once age was taken into account. Performance on other face-processing tasks (emotion classification and accuracy in line of sight detection) correlated significantly, if moderately, with RMF scores. Despite its age and imperfections, RMF test may nevertheless be a useful indicator of 'face expertise' in a developmental context.


Assuntos
Envelhecimento/psicologia , Face , Memória de Curto Prazo/fisiologia , Desempenho Psicomotor/fisiologia , Reconhecimento Psicológico/fisiologia , Adolescente , Criança , Emoções , Expressão Facial , Medo/psicologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estimulação Luminosa , Puberdade/psicologia , Caracteres Sexuais , Escalas de Wechsler
8.
Cognition ; 102(1): 84-100, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16412409

RESUMO

We hypothesized that women with Turner syndrome (45,X) with a single X-chromosome inherited from their mother may show mentalizing deficits compared to women of normal karyotype with two X-chromosomes (46,X). Simple geometrical animation events (two triangles moving with apparent intention in relation to each other) which usually elicit mental-state descriptions in normally developing people, did not do so to the same extent in women with Turner syndrome. We then investigated the potential role in this deficit played by monoamine oxidase B enzymatic activity. MAO-B activity reflects central serotonergic activity, and by implication the functional integrity of neural circuits implicated in mentalizing. Platelet MAO-B was substantially reduced in Turner syndrome. However, contrary to prediction, in this (relatively small) sample there was no association between MAO-B enzymatic activity and mentalizing skills in participants with and without Turner syndrome.


Assuntos
Cromossomos Humanos X/genética , Transtornos Cognitivos/genética , Monoaminoxidase/genética , Monossomia/genética , Fenótipo , Percepção Social , Adulto , Feminino , Humanos , Cariotipagem
9.
Brain ; 128(Pt 9): 2084-96, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15947057

RESUMO

The amygdala is preferentially activated by facial expressions of fear. Right and left amygdala are hypothesized to play distinct, but complementary, roles that influence somatic and cognitive responses to facial expressions. Right amygdala activation is linked to autonomic arousal, and thus indirectly influences left hemisphere cognitive processing centres. Left amygdala activation is more closely associated with cognitive processing and differentiation of facial emotions. A double-dissociation between the functions of left and right amygdala is implied by lesion studies but supportive evidence is inconsistent, partly because patients with structural anteromedial temporal anomalies have experienced variable surgical procedures. A functional dissociation can be demonstrated between arousal and the cognitive appraisal of fearful faces in the condition of X-monosomy or Turner syndrome. Previous research found Turner syndrome women of normal verbal intelligence are seriously impaired in their ability cognitively to differentiate fearful from other facial expressions but they acquire fear conditioning normally, with enhanced autonomic responses. These findings supported the dissociation hypothesis, which was formally tested in a study of 12 X-monosomic and 12 control females who participated in functional magnetic resonance imaging during which simultaneous skin conductance recordings were acquired. Faces depicting fear or neutral emotions were presented to both case and control subjects in random order. Arousal to (fearful-neutral) faces was associated with transiently increased skin conductance responses and bilateral amygdala activation in both groups, but X-monosomic females had proportionately greater--and more persistent--right amygdala activation than controls. In both groups, cognitive accuracy correlated positively with differential activity of left fusiform gyrus. There was a significant correlation between the left fusiform and left medial amygdala activation only in normal females, and only in them did differential SCRs (to fearful-neutral faces) correlate positively with left fusiform responses. Arousal and cognitive appraisal functions of the amygdala can thus be functionally dissociated. X-monosomy selectively impairs explicit recognition of fearful faces in the presence of normal or enhanced autonomic reactivity, and is associated with a functional dissociation of activity in left amygdala and left fusiform gyrus. These findings imply X-linked genes are essential for binding somatic responses to the cognitive appraisal of emotional stimuli.


Assuntos
Tonsila do Cerebelo/fisiopatologia , Nível de Alerta , Expressão Facial , Síndrome de Turner/fisiopatologia , Síndrome de Turner/psicologia , Adulto , Medo , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Oxigênio/sangue , Reconhecimento Visual de Modelos , Estimulação Luminosa/métodos , Reconhecimento Psicológico , Percepção Social , Síndrome de Turner/sangue
10.
Arch Dis Child ; 90(1): 43-7, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15613510

RESUMO

Analysis of both the content and process of examinations is central to planning the appropriate education and training of examiners in paediatric clinical examinations. This paper discusses the case for developing training, reviews the current literature, and suggests the desirable attributes of examiners and the components of a training programme. Potential areas of further research are also considered.


Assuntos
Educação de Pós-Graduação em Medicina/normas , Pediatria/educação , Competência Profissional/normas , Ensino/normas , Avaliação Educacional/normas , Humanos , Seleção de Pessoal , Reprodutibilidade dos Testes
11.
J Child Psychol Psychiatry ; 45(5): 967-78, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15225339

RESUMO

BACKGROUND: Increasing numbers of children are referred to Child and Adolescent Mental Health Services because of disruptive behaviour. Recent reviews on the origins of conduct problems indicate that the most severe and persistent forms are found predominantly among males with a range of neurodevelopmental vulnerabilities, which are likely to have biological substrates. In this study, we tested the hypothesis that many children who are identified with conduct disorder actually have a primary deficit in pragmatic language skills, of a quality and degree that is similar to children on the autistic spectrum. We hypothesised that pragmatic difficulties may underlie the antisocial behaviour in a proportion of children who are labelled as conduct disordered. METHODS: Using the Children's Communication Checklist (Bishop, 1998), we surveyed 142 children who had been referred for clinical investigation, with a predominant diagnosis of either an autistic spectrum condition (n = 87) or conduct disorder (n = 55), and 60 typically developing comparison children. Among children with conduct disorders, males predominated 9:1. RESULTS: On the basis of parent and teacher ratings, two-thirds of those with conduct disorders had pragmatic language impairments and other behavioural features similar in nature and degree to those of children with autism, independent of IQ. In a further study, we surveyed 54 children who had been excluded from elementary schools in a socio-economically disadvantaged inner-London borough and found over two-thirds to have comparable deficits. CONCLUSIONS: These findings have both theoretical and practical implications. First, they indicate the presence of communicative problems in a sub-group of children in whom conduct rather than language had been the major concern. Second, they indicate that severe deficits in pragmatic abilities and autistic-like behaviours can coexist with psychiatric conditions other than autism, especially in boys. Third, they imply that the management of many disruptive children could profitably be addressed to ameliorating their social and communicative skill deficits.


Assuntos
Transtorno da Conduta/diagnóstico , Inquéritos Epidemiológicos , Transtornos da Linguagem/diagnóstico , Comportamento Social , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Criança , Transtorno da Conduta/epidemiologia , Transtorno da Conduta/fisiopatologia , Feminino , Humanos , Idioma , Transtornos da Linguagem/fisiopatologia , Londres/epidemiologia , Masculino , Pais , Fatores Sexuais , Fatores Socioeconômicos , Populações Vulneráveis
12.
Br J Psychiatry ; 179: 129-37, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11483474

RESUMO

BACKGROUND: The clinical features of hyperphagic short stature (HSS) include short stature secondary to growth hormone insufficiency, excessive appetite (hyperphagia) and mild learning disabilities. Affected children characteristically live in conditions of high psychosocial stress. Symptoms resolve when the child is removed from the stressful environment. Family studies indicate a genetic predisposition. AIMS: To compare the behavioural and stress profiles of HSS with those of Prader--Willi syndrome (PWS), and to test the hypothesis that the genetic locus that predisposes to HSS co-inherits with the PWS locus at 15q11--13. METHOD: Twenty-five children with HSS, mean age 9.1 (s.d. 3.8) years, 28% female, were compared with 30 children with PWS, mean age 8.8 (s.d. 2.8) years, 33% female. RESULTS: The clinical profiles were largely similar across the conditions, but no evidence was found in HSS of co-inheritance of the PWS critical region. CONCLUSIONS: Hyperphagic short stature is one of the very few behavioural diseases associated with a pathognomonic physiological abnormality. Investigations of the suggested genetic dysregulation, which is so sensitive to environmental influences, may well be of importance in a broader context.


Assuntos
Transtornos do Crescimento/genética , Hiperfagia/genética , Síndrome de Prader-Willi/genética , Estresse Psicológico/complicações , Criança , Mapeamento Cromossômico/métodos , Diagnóstico Diferencial , Emoções Manifestas , Análise Fatorial , Relações Familiares , Feminino , Transtornos do Crescimento/diagnóstico , Humanos , Hiperfagia/diagnóstico , Masculino , Síndrome de Prader-Willi/diagnóstico , Escalas de Graduação Psiquiátrica , Estresse Psicológico/diagnóstico , Síndrome
13.
J Child Psychol Psychiatry ; 42(4): 551-6, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11383971

RESUMO

The Tower of Hanoi (ToH) task was given to 238 children aged from 7 to 15 years, and 20 adults. Individual variation within an age band was substantial. ToH score did not correlate significantly with Verbal IQ, nor with ability to inhibit a prepotent response. We readministered the ToH to 45 children after 30 to 40 days. The test-retest correlation of .5 is low in relation to accepted psychometric standards, though at least as high as reliability of the related Tower of London (ToL) in adults. The reasons for low reliability remain unclear: task novelty did not seem to be involved, as children did not improve on retest. We conclude that it is not safe to use this test to index integrity or maturation of underlying neurological systems in children. We compared our results with three published studies using the ToL with children, and found similar levels of performance on problems involving the same number of moves. Another study using automated ToL obtained much poorer scores, suggesting that computerised presentation may impair children's performance.


Assuntos
Cognição , Resolução de Problemas , Adolescente , Automação , Criança , Feminino , Humanos , Testes de Inteligência , Masculino , Variações Dependentes do Observador , Psicometria , Reprodutibilidade dos Testes
15.
J Child Psychol Psychiatry ; 41(8): 1003-14, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11099117

RESUMO

The developmental sequelae of infant failure to thrive (FTT) were examined in an unreferred group of 6-year-olds with a history of severe nonorganic growth retardation, sampled from a 1-year birth cohort in an inner-city area of South London. Children who failed to thrive in infancy (weight below the third centile for at least 3 months) and their pairwise matched comparisons were originally studied at 15 months, and 42 cases and 42 controls (89.5% of the sample) were followed up. At 6 years, previously growth-retarded children were considerably smaller than matched comparisons, in terms of body mass index (BMI), and height and weight for age Z scores. History of FTT explained substantial variance in weight and BMI at 6 years, with maternal height also contributing to variation in height for age. Child cognitive functioning at 6 years was examined using the McCarthy Scales: cases had more limited quantitative and memory skills than comparisons, but there was no intergroup variation in general cognitive performance. In contrast to analyses of physical development, failure to thrive did not account for cognitive functioning; maternal IQ was the sole significant predictor of performance on all indices of child cognitive abilities. At 15 months, earlier growth faltering was linked to limitations in mental development, but these findings were not confirmed by the follow-up data: the timing of FTT was not related to cognitive abilities at 6 years. Results correspond to past research indicating that nonorganic failure to thrive is associated with persistent limitations in physical stature. There was little evidence of cognitive disadvantage for case group children at school age, suggesting that the adverse effects of early malnutrition on cognitive functioning appear to diminish over time.


Assuntos
Desenvolvimento Infantil , Cognição , Insuficiência de Crescimento , Inteligência , Fatores Etários , Estatura , Índice de Massa Corporal , Peso Corporal , Estudos de Casos e Controles , Criança , Feminino , Seguimentos , Humanos , Lactente , Londres , Masculino , Testes Psicológicos , População Urbana
16.
Hum Genet ; 106(1): 93-100, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10982188

RESUMO

Small ring (X) chromosomes lacking the XIST gene at Xq13.2 have been associated with a severe phenotype that includes mental retardation, facial dysmorphism and congenital abnormalities. It has been hypothesised that the loss of XIST results in functional disomy for the sequences contained in the ring. We studied 47 females with a 45,X/46,r(X) karyotype and found seven to have an XIST-negative ring. Only one of the seven patients had the severe phenotype. The remaining six patients had physical phenotypes consistent with Turner syndrome. The rings were characterised cytogenetically and molecularly. The severe phenotype in one patient can be explained by the absence of XIST expression, the relatively large amount of Xp material in the ring and, possibly, the concomitant maternal uniparental isodisomy. We propose three explanations for the unexpectedly mild phenotypes in the remaining six patients; (1) the rings contained limited amounts of X-chromosome material, and sequences that, when functionally disomic, result in a severe phenotype were absent; (2) mosaicism resulting in the absence of the ring from tissues, such as the brain, which are important in the severe phenotype and (3) the presence of an inactive X in some tissues at some time, exemplified by the demonstration of XIST expression in one patient.


Assuntos
RNA não Traduzido , Cromossomos em Anel , Fatores de Transcrição/genética , Cromossomo X/genética , Anormalidades Múltiplas/genética , Adolescente , Adulto , Criança , Metilação de DNA , Compensação de Dosagem (Genética) , Humanos , Hibridização in Situ Fluorescente , Testes de Inteligência , Cariotipagem , Masculino , Fenótipo , RNA Longo não Codificante , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Síndrome de Turner/genética
18.
J Child Psychol Psychiatry ; 41(1): 3-31, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10763674

RESUMO

We have just emerged from "the Decade of the Brain", yet in so many ways it was the "Decade of the Genome". What relevance does the remarkable advance in knowledge in genetics and neuroscience over that period have to our understanding of child psychopathology? When the complexity of the genetic systems involved in behavioural regulation of relatively simple organisms such as the nematode worm Caenorhabditis elegans or the fruitfly Drosophila melanogaster is considered, the possibility of comprehending the links from genes to behaviour in the developing child seems remote. Yet, the principles of investigation in model systems are not so different to those that should apply in humans. This review draws out the parallels, and introduces recent findings from behavioural studies of C. elegans, D. melanogaster, and the laboratory mouse, as well as humans, to illustrate the point.


Assuntos
Transtornos do Comportamento Infantil/genética , Transtornos Mentais/genética , Modelos Genéticos , Animais , Encéfalo/fisiopatologia , Caenorhabditis elegans/genética , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/fisiopatologia , Drosophila melanogaster/genética , Humanos , Transtornos Mentais/diagnóstico , Transtornos Mentais/fisiopatologia , Camundongos , Psicopatologia
20.
Neuropsychologia ; 38(5): 712-21, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10689047

RESUMO

X-monosomy is a form of Turner syndrome (TS) in which an entire X chromosome is missing. It is usually assumed that neuropsychological deficits in females with TS result from insufficient dosage of gene products from alleles on the sex chromosomes. If so, then parental origin of the single X chromosome should be immaterial. However, if there are imprinted genes on the X chromosome affecting brain development, neuropsychological development will depend on the parental origin of the single X chromosome. We contrasted verbal and visuospatial memory in females with a single paternal X chromosome (45,X(p)) and those with a single maternal X (45,X(m)). Neither group showed any impairment on immediate story recall; if anything, performance was above control levels. Groups did not differ on a measure of delayed recall. However, when delayed recall was considered after adjusting for level of immediate recall, 45,X(m) females showed enhanced verbal forgetting relative to controls over a delay. On the Rey figure, both groups were poor at copying the figure, but, after adjusting scores for initial copy score and strategy, only the 45,X(p) females showed disproportionate forgetting relative to controls. We propose there may be one or more imprinted genes on the X chromosome that affect the development of lateralised brain regions important for memory function.


Assuntos
Memória/fisiologia , Sistema Nervoso/crescimento & desenvolvimento , Síndrome de Turner/genética , Síndrome de Turner/psicologia , Cromossomo X/genética , Adolescente , Criança , Feminino , Humanos , Cariotipagem , Masculino , Rememoração Mental , Fenótipo , Percepção Espacial/fisiologia , Aprendizagem Verbal
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...