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1.
Clin Genet ; 98(5): 423-432, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32333401

RESUMO

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder of brain angiogenesis. PVHH has long been considered to be prenatally lethal. We evaluated the phenotypes of the first three siblings with survival into adulthood, performed a systematic review of the Fowler syndrome literature and delineated genotype-phenotype correlations using a scoring system to rate the severity of the disease. Thirty articles were included, describing 69 individual patients. To date, including our clinical reports, 72 patients have been described with Fowler syndrome. Only 6/72 (8%) survived beyond birth. Although our three patients carry the same mutations (c.327T>A-p.Asn109Lys and c.887C>T-p.Ser296Leu) in FLVCR2, only two of them presented with the same cerebral features, ventriculomegaly and cerebral calcifications, as affected fetuses. The third sibling has a surprisingly milder clinical and radiological phenotype, suggesting intrafamilial variability. Although no clear phenotype-genotype correlation exists, some variants appear to be associated with a less severe phenotype compatible with life. As such, it is important to consider Fowler syndrome in patients with gross ventriculomegaly, cortical malformations and/or cerebral calcifications on brain imaging.


Assuntos
Hidranencefalia/genética , Proteínas de Membrana Transportadoras/genética , Neovascularização Patológica/genética , Receptores Virais/genética , Encéfalo/metabolismo , Encéfalo/patologia , Estudos de Associação Genética , Humanos , Hidranencefalia/patologia , Mutação/genética , Neovascularização Patológica/patologia , Fenótipo
2.
Paediatr Perinat Epidemiol ; 34(2): 190-203, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32026500

RESUMO

BACKGROUND: Stress during pregnancy is known to affect fetal neurodevelopment. It seems likely therefore that intimate partner violence (IPV) and domestic violence (DV) as extreme stressors will have a similarly adverse effect. OBJECTIVES: A systematic review was conducted to assess the association between prenatal exposure to violence for mothers and developmental difficulties in their children. DATA SOURCES: PubMed, PsycInfo, CINAHL, ERIC, Science Direct, SCOPUS, PsyARTICLES, Networked Digital Library of Theses and Dissertations, Women's Studies International and Gender Studies Database were all searched using the agreed search terms. STUDY SELECTION AND DATA EXTRACTION: We include studies of women who have experienced any violence, fear of violence or aggression while pregnant, including emotional, psychological, physical or sexual violence in the context of IPV or DV. Studies were excluded if the neurodevelopmental outcomes of the offspring were not assessed. Studies from all countries were included, in English or translated to English, and search dates were not restricted. We included all years from inception of the database until the search date. SYNTHESIS: Study design and biases, assessment tools, management of confounding, results and overall quality were assessed. RESULTS: We identified 11 papers reporting on observational studies. Almost three quarters of the studies found a relationship between prenatal exposure to violence and developmental difficulties in the offspring. Differing assessment tools were used with a range of data collected and not all adjusted their findings for the same confounders. CONCLUSIONS: Current evidence on the relationship between prenatal violence exposure, as IPV or DV, and consequent child developmental disorders remains limited. Future research using comprehensive study designs, larger samples and longitudinal follow-up of the offspring could clarify this association. While maternal trauma resulting from exposure to violence may play an important role in childhood development disorders, additional intervening factors on the pathway need further explored.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Exposição à Violência , Gestantes/psicologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Criança , Correlação de Dados , Feminino , Humanos , Gravidez
3.
Adv Neonatal Care ; 19(2): 118-126, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30325749

RESUMO

BACKGROUND: Although personality as well as anxiety and depression are recognized as predictors for breastfeeding initiation, evidence of an association of these factors with 6 months' exclusive breastfeeding as recommended by the World Health Organization (WHO) is sparse. PURPOSE: The purpose of this study was to investigate the associations of personality and symptoms of anxiety and depression during and after pregnancy with meeting the WHO recommendation of 6 months' exclusive breastfeeding. METHODS: In their first trimester of pregnancy, 5784 pregnant women were enrolled in Dutch primary obstetric care centers and hospitals, of which 2927 completed the breastfeeding assessments 6 months postpartum. We performed logistic regression analyses to test the associations of "big five" personality traits (NEO Five Factor Inventory), anxiety (State-Trait Anxiety Inventory), and depression (Edinburgh Postnatal Depression Scale) symptom levels during pregnancy and postpartum with meeting the WHO recommendation of 6 months' exclusive breastfeeding. RESULTS: Agreeableness (odds ratio [OR] = 1.18, P = .006) and openness (OR = 1.31, P < .001) were positively associated with meeting the WHO recommendation, whereas extraversion (OR = 0.83, P = .005) and neuroticism (OR = 1.18, P = .006) were negatively associated. After adjustment for both antenatal and postpartum symptom levels of anxiety and depression, the associations of the agreeableness, extraversion, and openness personality traits remained strong and statistically significant (P < .05). IMPLICATIONS FOR PRACTICE: Patient-centered care should take personality into account in an effort to tailor interventions to optimize breastfeeding behavior. IMPLICATIONS FOR RESEARCH: In contrast to earlier findings, personality traits may be of greater importance than symptoms of anxiety and depression for meeting the WHO recommendation of 6 months' exclusive breastfeeding.


Assuntos
Aleitamento Materno/estatística & dados numéricos , Fidelidade a Diretrizes/estatística & dados numéricos , Política Nutricional , Personalidade , Adolescente , Adulto , Ansiedade/epidemiologia , Ansiedade/psicologia , Aleitamento Materno/psicologia , Estudos de Coortes , Depressão/epidemiologia , Depressão/psicologia , Extroversão Psicológica , Feminino , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Mães/psicologia , Mães/estatística & dados numéricos , Países Baixos/epidemiologia , Neuroticismo , Razão de Chances , Inventário de Personalidade , Gravidez , Estudos Prospectivos , Organização Mundial da Saúde , Adulto Jovem
4.
Soc Psychiatry Psychiatr Epidemiol ; 53(11): 1207-1219, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29725700

RESUMO

PURPOSE: Childhood trauma may increase vulnerability to numerous specific psychiatric disorders, or a generalised liability to experience dimensions of internalising or externalising psychopathology. We use a nationally representative sample (N = 34,653) to examine the long-term consequences of childhood trauma and their combined effect as predictors of subsequent psychopathology. METHODS: Data from the US National Epidemiologic Survey on Alcohol and Related Conditions were used. Latent class analysis was used to identify childhood trauma profiles and multinomial logistic regression to validate and explore these profiles with a range of associated demographic and household characteristics. We used Structural Equation Modelling to substantiate initial latent class analysis findings by investigating a range of mental health diagnoses. Internalising and externalising domains of psychopathology were regressed on trauma profiles and associated demographic and household characteristics. We used Differential Item Functioning to examine associations between the trauma groups and a number of psychiatric disorders within internalising and externalising dimensions of mental health. RESULTS: We found a 3-class model of childhood trauma in which 85% of participants were allocated to a low trauma class; 6% to a multi-type victimization class (reporting exposures for all the child maltreatment criteria); and 9% to a situational trauma class (exposed to a range of traumas). Confirmatory Factor Analysis revealed an internalising-externalising spectrum was used to represent lifetime reporting patterns of mental health disorders. Both trauma groups showed specific gender and race/ethnicity differences, related family discord and increased psychopathology. Additionally, we found significant associations between the trauma groups and specific diagnoses within the internalising-externalising spectrum of mental health. CONCLUSIONS: The underlying patterns in the exposure to types of interpersonal and non-interpersonal traumas and associated mental health highlight the need to screen for particular types of childhood traumas when individuals present with symptoms of psychiatric disorders.


Assuntos
Adultos Sobreviventes de Eventos Adversos na Infância/estatística & dados numéricos , Transtornos Mentais/epidemiologia , Trauma Psicológico/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estados Unidos/epidemiologia
5.
Compr Psychiatry ; 75: 6-13, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28279817

RESUMO

BACKGROUND: Pregnancy-specific anxiety is an important risk factor for adverse pregnancy outcomes. It is therefore needed to gain insight in which women are at risk for elevated levels (> 85th percentile) of pregnancy-specific anxiety. Additionally, given that unhealthy behaviour has been suggested as a possible pathway linking pregnancy-specific anxiety to adverse pregnancy outcomes, it is important to examine whether higher levels of pregnancy-specific anxiety are associated with negative health-related behaviours (smoking, alcohol use and too much weight gain). METHODS: Using a study sample of 4541 low-risk pregnant women who filled in the Pregnancy Related Anxiety Questionnaire-Revised (PRAQ-R), we first examined which socio-demographic, pregnancy-related and psychological background characteristics were significantly associated with a PRAQ-R score above the 85th percentile. Secondly, we examined the association between pregnancy-specific anxiety and self-reported health-related behaviours (smoking, alcohol use and too much weight gain) while controlling for significant background characteristics. For both research questions, backward regression analysis was applied. RESULTS: Results showed that nulliparity (OR=2.33, 95% confidence interval (CI)=1.97-2.77), anxious or depressed mood (OR=3.29, 95% CI=2.74-3.94) and non-Dutch ethnicity, especially Turkish (OR=3.47, 95% CI=2.16-5.59) or Moroccan (OR=2.97, 95% CI=1.84-4.81), were most strongly associated with elevated pregnancy-specific anxiety levels. Women with higher pregnancy-specific anxiety levels were more likely to gain too much weight during pregnancy (odds ratio (OR) linear term=1.49, 95% CI=1.21-1.83), while both very low and high levels of pregnancy-specific anxiety were associated with smoking (OR linear term=0.13, 95% CI=0.04-0.45, OR quadratic term=1.81, 95% CI=1.32-2.47). No association with alcohol use was found. CONCLUSIONS: In conclusion, our results show nulliparity, anxious or depressed mood and non-Dutch ethnicity as three major vulnerability factors for elevated levels of pregnancy-specific anxiety. Furthermore, our results show an association between pregnancy-specific anxiety and negative health-related behaviours, which is worth examining in future studies.


Assuntos
Ansiedade/psicologia , Comportamentos Relacionados com a Saúde , Complicações na Gravidez/psicologia , Adulto , Consumo de Bebidas Alcoólicas/psicologia , Ansiedade/etnologia , Depressão/etnologia , Depressão/psicologia , Etnicidade/psicologia , Feminino , Humanos , Marrocos/etnologia , Países Baixos , Razão de Chances , Paridade , Gravidez , Complicações na Gravidez/etnologia , Fatores de Risco , Autorrelato , Fumar/psicologia , Inquéritos e Questionários , Turquia/etnologia , Aumento de Peso
6.
Dev Med Child Neurol ; 58(2): 138-44, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26173923

RESUMO

AIM: The aim of the study was to map clinical patterns of dystonia and choreoathetosis and to assess the relation between functional classifications and basal ganglia and thalamus lesions in participants with dyskinetic cerebral palsy (CP). METHODS: In this cross-sectional study, 55 participants with dyskinetic CP (mean age 14y 6mo, SD 4y 1mo; range 6-22y) were assessed with the Dyskinesia Impairment Scale and classified with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). RESULTS: Dystonia and choreoathetosis are simultaneously present. Median levels of dystonia (70.2%) were significantly higher than levels of choreoathetosis (26.7%) and both were significantly higher during activity than at rest (both p<0.01). High correlations were found between dystonia levels and GMFCS level (Spearman's rank correlation coefficient, rS =0.70; 95% confidence interval [CI] 0.53-0.81; p<0.01) and MACS (rS =0.65; 95% CI 0.47-0.81; p<0.01), and fair correlation with CFCS (rs =0.36; 95% CI=0.11-0.57; p<0.05). No significant correlation was found between choreoathetosis levels and motor classifications. Finally, higher choreoathetosis levels were found in participants with pure thalamus and basal ganglia lesions (p=0.03) than mixed lesions, but not for dystonia (p=0.41). INTERPRETATION: Dystonia and choreoathetosis increase during activity. However, dystonia predominates and seems to have a larger impact on functional abilities. Our findings further suggest that choreoathetosis seems to be more linked to pure thalamus and basal ganglia lesions than dystonia.


Assuntos
Atetose/fisiopatologia , Paralisia Cerebral/fisiopatologia , Coreia/fisiopatologia , Distonia/fisiopatologia , Adolescente , Adulto , Atetose/epidemiologia , Atetose/etiologia , Doenças dos Gânglios da Base/patologia , Paralisia Cerebral/complicações , Paralisia Cerebral/epidemiologia , Criança , Coreia/epidemiologia , Coreia/etiologia , Estudos Transversais , Distonia/epidemiologia , Distonia/etiologia , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Tálamo/patologia , Adulto Jovem
7.
Cereb Cortex ; 22(10): 2263-71, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22047968

RESUMO

Discussion of an overlap between specific language impairment (SLI) and autism spectrum disorder (ASD) is on going. The most intriguing overlap between both phenotypes is the similarity in the observed language deficits described in SLI and a subgroup of ASD with co-occurring linguistic impairment, ASD-LI. Examining whether a similar neuroanatomical substrate underlies this phenotypical linguistic overlap, we studied the white matter microstructural properties of the superior longitudinal fascicle (SLF) of 19 ASD-LI adolescents (mean age 13.8 ± 1.6 years) and 21 age-matched controls and compared them with 13 SLI children (mean age 10.1 ± 0.4 years) and 12 age-matched controls. A linguistic profile assessment and a diffusion tensor imaging analysis of the SLF were performed. Linguistic testing revealed a mixed receptive-expressive disorder profile in both groups, confirming their overlap at phenotypical level. At neuroanatomical level, no significant differences in mean SLF fractional anisotropy (FA) and mean SLF apparent diffusion coefficient values between ASD-LI participants and controls were seen. By contrast, the mean SLF FA was significantly reduced in the SLI children as compared with their controls. The observation of structural SLF disturbances in SLI but not in ASD-LI suggests the existence of a different neuroanatomical substrate for the language deficits in both disorders.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Lobo Frontal/fisiopatologia , Transtornos da Linguagem/fisiopatologia , Idioma , Rede Nervosa/fisiopatologia , Lobo Temporal/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Masculino , Vias Neurais/fisiopatologia
8.
Dev Med Child Neurol ; 54(1): 38-43, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22171928

RESUMO

AIM: In this study, we explored the integrity of the inferior longitudinal fasciculus (ILF) by means of diffusion tensor imaging tractography in children with visual perceptual impairment, and more specifically, object recognition deficits, compared with typically developing children. METHODS: Eleven individuals (nine males, two females; mean age 7 y 8 mo; range 3 y 5 mo-13 y) were assessed with the L94 visual perceptual battery after assessment of performance age. In all participants, an ophthalmological evaluation was carried out. Diffusion tensor imaging tractography of the ILF was performed. The mean fractional anisotropy was determined for every child and compared with data for 11 age- and sex-matched typically developing children. RESULTS: The mean fractional anisotropy value in the left ILF was consistently lower in the study participants than in the comparison group. The five children with L94 impairment showed a significantly lower ILF fractional anisotropy on the left as well as on the right side. Furthermore, the decrease in ILF fractional anisotropy was correlated with the number of impaired subtests. INTERPRETATION: The results suggest an association between ILF integrity loss and object recognition deficits. Moreover, the severity of clinical impairment is reflected in the degree of ILF integrity loss. Therefore, the ILF plays a potential role in object recognition.


Assuntos
Imagem de Difusão por Ressonância Magnética , Processamento de Imagem Assistida por Computador , Lobo Occipital/fisiopatologia , Reconhecimento Visual de Modelos/fisiologia , Transtornos da Percepção/diagnóstico , Transtornos da Percepção/fisiopatologia , Reconhecimento Psicológico/fisiologia , Lobo Temporal/fisiopatologia , Vias Visuais/fisiopatologia , Adolescente , Anisotropia , Ventrículos Cerebrais/fisiopatologia , Criança , Pré-Escolar , Dominância Cerebral/fisiologia , Feminino , Humanos , Masculino , Programas de Rastreamento , Fibras Nervosas/fisiologia , Exame Neurológico , Testes Neuropsicológicos , Transtornos da Percepção/psicologia , Valores de Referência , Sensibilidade e Especificidade
9.
Dev Med Child Neurol ; 54(3): 278-83, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22428172

RESUMO

AIM: The aim of this study was to examine the reliability and validity of the Dyskinesia Impairment Scale (DIS). The DIS consists of two subscales: dystonia and choreoathetosis. It measures both phenomena in dyskinetic cerebral palsy (CP). METHOD: Twenty-five participants with dyskinetic CP (17 males; eight females; age range 5­22y; mean age 13y 6mo; SD 5y 4mo), recruited from special schools for children with motor disorders, were included. Exclusion criteria were changes in muscle relaxant medication within the previous 3 months, orthopaedic or neurosurgical interventions within the previous year, and spinal fusion. Interrater reliability was verified by two independent raters. For interrater reliability, intraclass correlation coefficients were assessed. Standard error of measurement, the minimal detectable difference, and Cronbach's alpha for internal consistency were determined. For concurrent validity of the DIS dystonia subscale, the Barry­Albright Dystonia Scale was administered. RESULTS: The intraclass correlation coefficient for the total DIS score and the two subscales ranged between 0.91 and 0.98 for interrater reliability. The reliability of the choreoathetosis subscale was found to be higher than that of the dystonia subscale. The standard error of the measurement and minimal detectable difference values were adequate. Cronbach's alpha values ranged from 0.89 to 0.93. Pearson's correlation between the dystonia subscale and Barry­Albright Dystonia Scale was 0.84 (p<0.001). INTERPRETATION: Good to excellent reliability and validity were found for the DIS. The DIS may be promising for increasing insights into the natural history of dyskinetic CP and evaluating interventions. Future research on the responsiveness of the DIS is warranted.


Assuntos
Atetose/diagnóstico , Coreia/diagnóstico , Avaliação da Deficiência , Distonia/diagnóstico , Adolescente , Atetose/complicações , Atetose/etiologia , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Coreia/complicações , Coreia/etiologia , Distonia/etiologia , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estatística como Assunto , Adulto Jovem
10.
Am J Gastroenterol ; 106(10): 1796-802, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21556039

RESUMO

OBJECTIVES: This validation study evaluates a new manometry impedance-based approach for the objective assessment of pharyngeal function relevant to postswallow bolus residue. METHODS: We studied 23 adult and pediatric dysphagic patients who were all referred for a videofluoroscopy, and compared these patients with 10 adult controls. The pharyngeal phase of swallowing of semisolid boluses was recorded with manometry and impedance. Fluoroscopic evidence of postswallow bolus residue was scored. Pharyngeal pressure impedance profiles were analyzed. Computational algorithms measured peak pressure (Peak P), pressure at nadir impedance (PNadImp), time from nadir impedance to PeakP (PNadImp-PeakP), the duration of impedance drop in the distal pharynx (flow interval), upper esophaghageal sphincter (UES) relaxation interval (UES-RI), nadir UES pressure (NadUESP), UES intrabolus pressure (UES-IBP), and UES resistance. A swallow risk index (SRI) was derived by the formula: SRI=(FI × PNadImp)/(PeakP × (TNadImp-PeakP+1)) × 100. RESULTS: In all, 76 patient swallows (35 with residue) and 39 control swallows (12 with residue) were analyzed. Different functional variables were found to be altered in relation to residue. In both controls and patients, flow interval was longer in relation to residue. In controls, but not patients, residue was associated with an increased PNadImp (suggestive of increased pharyngeal IBP). Controls with residue had increased UES-IBP, NadUESP, and UES resistance compared with patients with residue. Residue in patients was related to a prolonged UES-RI. The SRI was elevated in relation to residue in both controls and patients and an average SRI of 9 was optimally predictive of residue (sensitivity 75% and specificity 80%). CONCLUSIONS: We present novel findings in control subjects and dysphagic patients showing that combined manometry and impedance recordings can be objectively analyzed to derive pressure-flow variables that are altered in relation to the bolus residual and can be combined to predict ineffective pharyngeal swallowing.


Assuntos
Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Deglutição , Esôfago/fisiopatologia , Manometria , Faringe/fisiopatologia , Aspiração Respiratória/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Transtornos de Deglutição/complicações , Impedância Elétrica , Feminino , Fluoroscopia , Humanos , Masculino , Manometria/métodos , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Pressão , Aspiração Respiratória/prevenção & controle , Insuficiência Velofaríngea/diagnóstico , Insuficiência Velofaríngea/fisiopatologia
11.
Hum Brain Mapp ; 31(3): 470-86, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19957267

RESUMO

Reconstruction of white matter (WM) fiber tracts based on diffusion tensor imaging (DTI) is increasingly being used in clinical and research settings to study normal and pathological WM tissue as well as the maturation of this WM tissue. Such fiber tracking (FT) methodology, however, is highly dependent on the manual delineation of anatomical landmarks and the algorithm settings, often rendering the reproducibility and reliability questionable. Predefining these regions of interest on a fractional anisotropy (FA) atlas in standard space has already been shown to improve the reliability of FT results. In this paper, we constructed a new DTI atlas, which contains the complete diffusion tensor information in ICBM152 coordinates. From this high-dimensional DTI atlas, and using robust FT protocols, we reconstructed a large number of WM tracts. Subsequently, we created tract masks from these fiber tract bundles and evaluated the atlas framework by comparing the reproducibility of the results obtained from our standardized tract masks with regions-of-interest labels from the conventional FA-based WM atlas. Finally, we assessed laterality and age-related WM changes in 42 normal subjects aged 0 to 18 years using these tractography-derived tract segmentations. In agreement with previous literature, we observed an FA increase with age, which was mainly due to the decrease of perpendicular diffusivity. In addition, major functional pathways in the language, motor, and limbic system, showed a significant asymmetry in terms of the observed diffusion metrics.


Assuntos
Anatomia Artística/métodos , Atlas como Assunto , Encéfalo/anatomia & histologia , Encéfalo/crescimento & desenvolvimento , Imagem de Tensor de Difusão/métodos , Processamento de Imagem Assistida por Computador/métodos , Adolescente , Envelhecimento , Anisotropia , Criança , Pré-Escolar , Feminino , Lateralidade Funcional , Humanos , Lactente , Masculino , Fibras Nervosas Mielinizadas , Vias Neurais/anatomia & histologia , Vias Neurais/crescimento & desenvolvimento , Reprodutibilidade dos Testes , Técnicas Estereotáxicas , Adulto Jovem
12.
Neuroradiology ; 52(1): 3-14, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20033797

RESUMO

Neuroimaging studies done by means of magnetic resonance imaging (MRI) have provided important insights into the neurobiological basis for autism. The aim of this article is to review the current state of knowledge regarding brain abnormalities in autism. Results of structural MRI studies dealing with total brain volume, the volume of the cerebellum, caudate nucleus, thalamus, amygdala and the area of the corpus callosum are summarised. In the past 5 years also new MRI applications as functional MRI and diffusion tensor imaging brought considerable new insights in the pathophysiological mechanisms of autism. Dysfunctional activation in key areas of verbal and non-verbal communication, social interaction, and executive functions are revised. Finally, we also discuss white matter alterations in important communication pathways in the brain of autistic patients.


Assuntos
Transtorno Autístico/patologia , Transtorno Autístico/fisiopatologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Encéfalo/crescimento & desenvolvimento , Humanos , Imageamento por Ressonância Magnética , Vias Neurais/crescimento & desenvolvimento , Vias Neurais/patologia , Vias Neurais/fisiopatologia
13.
BMC Med Genet ; 10: 97, 2009 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-19772601

RESUMO

BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet. METHODS: We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism. Peripheral blood lymphocytes were karyotyped and array CGH was performed on extracted DNA. At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma. Tumour cells were analyzed by karyotyping, array CGH and NF2 mutation analysis. RESULTS: Karyotype on peripheral blood lymphocytes revealed a ring chromosome 22 in all analyzed cells. A 1 Mb array CGH experiment on peripheral blood DNA showed a deletion of 5 terminal clones on the long arm of chromosome 22. Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22. CONCLUSION: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22. Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence.


Assuntos
Cromossomos Humanos Par 22 , Neuroma Acústico/genética , Cromossomos em Anel , Adulto , Feminino , Genes da Neurofibromatose 1 , Genes da Neurofibromatose 2 , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Imageamento por Ressonância Magnética , Mutação , Neuroma Acústico/diagnóstico , Análise de Sequência com Séries de Oligonucleotídeos , Fenótipo , Análise de Sequência de DNA
14.
Am J Obstet Gynecol ; 200(5): 494.e1-8, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19375567

RESUMO

OBJECTIVES: We sought to document the pregnancy and neurodevelopmental outcome in monochorionic diamniotic twin pregnancies and to identify risk factors for death and impairment. STUDY DESIGN: We conducted a prospective cohort study of 136 monochorionic twins followed up from the first trimester until infancy. RESULTS: A total of 122 (90%) pregnancies resulted in 2 survivors, 6 (4%) in 1 survivor and 8 (6%) in no survivor. In all, 230 (92%) of 250 surviving infants were assessed at a mean age of 24 months. Neurodevelopmental impairment was present in 22 (10%) infants. Death or impairment of 1 or both infants occurred in 28 (22%) of 126 pregnancies. Twin-to-twin transfusion syndrome and assisted conception increased the risk of both death and impairment, whereas early-onset discordant growth only increased the risk of death. CONCLUSION: The mortality in this prospective series was 8% and neurodevelopmental impairment occurred in 10% of infants.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Morte Fetal/epidemiologia , Transfusão Feto-Fetal/mortalidade , Resultado da Gravidez/epidemiologia , Gêmeos , Adulto , Âmnio , Paralisia Cerebral/epidemiologia , Córion , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Fatores de Risco
15.
J Head Trauma Rehabil ; 24(5): 363-73, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19858970

RESUMO

OBJECTIVE: To compare performance of children with acquired brain injury (ABI) on static versus dynamic visuomotor tasks with that of control children. PARTICIPANTS: Twenty-eight children with ABI and 28 normal age- and gender-matched controls (aged 6-16 years). MAIN MEASURES: Two visuomotor tasks on a digitizing tablet: (1) a static motor task requiring tracing of a flower figure and (2) a dynamic task consisting of tracking an accelerating dot presented on a monitor. RESULTS: Children with ABI performed worse than the control group only during the dynamic tracking task; the duration within the target was shorter, the distance between the centers of cursor and target was larger, and the number of velocity peaks per centimeter and the number of stops (ie, the number of submovements) were higher than those of the control group. Rather than resulting from movement execution problems, this might be due to less adequate processing of fast incoming sensory information, resulting in a decreased ability to anticipate the movement of the target (predictive control). CONCLUSION: Deficits in eye-hand coordination require careful attention, even in the postinjury chronic phase.


Assuntos
Nível de Alerta , Atenção , Dano Encefálico Crônico/diagnóstico , Lesão Encefálica Crônica/diagnóstico , Percepção de Movimento , Testes Neuropsicológicos/estatística & dados numéricos , Reconhecimento Visual de Modelos , Transtornos Psicomotores/diagnóstico , Tempo de Reação , Adolescente , Dano Encefálico Crônico/psicologia , Dano Encefálico Crônico/reabilitação , Lesão Encefálica Crônica/psicologia , Lesão Encefálica Crônica/reabilitação , Estudos de Casos e Controles , Criança , Feminino , Seguimentos , Humanos , Masculino , Orientação , Psicometria , Transtornos Psicomotores/psicologia , Transtornos Psicomotores/reabilitação , Acompanhamento Ocular Uniforme , Valores de Referência
16.
PLoS One ; 14(2): e0210543, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30817791

RESUMO

INTRODUCTION: Dementia is a major public health concern but one that continues to be stigmatised. We examine lay knowledge of dementia and attitudes to people with dementia as potential precursors of public anxiety, focusing on the social characteristics associated with (a) the formation of these attitudes, and (b) the perception of the need for restriction and control for people with dementia. METHODS: Analysis of the 2014 Northern Ireland Life and Times survey, which included questions on knowledge of, attitudes to and personal experience with dementia. We used (a) latent class analysis and (b) logistic regression to examine factors associated with respondent attitudes towards dementia. RESULTS: Respondents (n = 1211) had relatively good general knowledge of dementia, but limited knowledge of specific risk factors. Negative perceptions of dementia were mitigated somewhat by personal contact. A high proportion of respondents felt that high levels of control were appropriate for people diagnosed with dementia, even at early stages of the disease. CONCLUSION: Personal antipathy to dementia was highly prevalent despite ongoing public campaigns to increase public awareness of developments in its prevention, treatment and consequent care pathways and hampering efforts to widen social inclusion. Fresh thinking and more resources may be needed to challenge persisting common misapprehension of the condition and the formation of entrenched stigma.


Assuntos
Demência/epidemiologia , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Irlanda do Norte/epidemiologia , Fatores de Risco , Estigma Social , Estereotipagem , Adulto Jovem
18.
Eur J Paediatr Neurol ; 21(2): 327-335, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27707657

RESUMO

AIM: To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP). METHODS: Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (rs) was used to assess the relationship between the movement disorders and activity, participation and QOL measures. RESULTS: Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (rs) varying between -0.65 (95% CI = -0.78 to -0.46) and -0.71 (95% CI = -0,82 to -0.55). Correlations were also found with the LIFE-H (rs = -0.43; 95%CI = -0.64 to -0.17) and the CP-QOL (rs = -0.32; 95%CI = -0.56 to -0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales. INTERPRETATION: This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis.


Assuntos
Atetose/complicações , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/psicologia , Coreia/complicações , Distonia/complicações , Qualidade de Vida , Adolescente , Atetose/fisiopatologia , Atetose/psicologia , Paralisia Cerebral/complicações , Criança , Coreia/fisiopatologia , Coreia/psicologia , Estudos Transversais , Distonia/fisiopatologia , Distonia/psicologia , Exercício Físico/fisiologia , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Participação Social/psicologia , Inquéritos e Questionários , Adulto Jovem
19.
Brain ; 128(Pt 11): 2562-77, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16049045

RESUMO

Periventricular white matter injury (PWI) is a major form of brain injury observed in congenital hemiparesis. The aim of this study is to determine the usefulness of diffusion tensor imaging (DTI) and fibre tracking in delineating the primary and secondary degenerative changes in cerebral white matter and deep grey matter in patients with spastic cerebral palsy due to PWI and to look for any possible reorganization of the axonal architecture. Five hemiparetic cerebral palsy patients (median age 14 years) with known PWI were prospectively studied with DTI of the brain at 1.5T and quantitatively compared with five age and sex matched controls. Fibre tracts for various corticofugal, thalamocortical and association tracts were generated and analysed for the DTI fibre count and for diffusion parameters. A region of interest based analysis was performed for the directionally averaged mean diffusivity (D(av)) and fractional anisotropy (FA) values in various white matter locations in the brain and the brainstem and in the deep grey matter nuclei. Group statistics were performed for these parameters using Mann-Whitney U-test comparing the affected sides in patients with either side in controls and the unaffected side in hemiparetics. There was significant reduction in DTI fibre count on the lesional side involving corticospinal tract (CST), corticobulbar tract (CBT) and superior thalamic radiation in the patient group compared with controls. Also there was an increase in DTI fibre count in the unaffected side of the hemiparetic patients in CST and CBT, which reached statistical significance only in CBT. The corpus callosum, cingulum, superior longitudinal fasciculus and middle cerebellar peduncle failed to show any significant change. ROI measurements on the primary site of white matter lesion and the thalamus revealed a significant increase in D(av) and decrease in FA, suggesting primary degeneration. The CST in the brainstem, the body of corpus callosum and the head of caudate and lentiform nuclei showed features of secondary degeneration on the affected side. The CST on the unaffected side of hemiparetics was found to have a significant decrease in D(av) and an increase in FA. Thus the degeneration of various motor and sensory pathways, as well as deep grey matter structures, appears to be important in determining the pathophysiological mechanisms in patients with congenital PWI. Also evidence suggesting the reorganization of sensorimotor tracts in the unaffected side of spastic hemiparetic patients was noted.


Assuntos
Paralisia Cerebral/etiologia , Leucomalácia Periventricular/complicações , Adolescente , Mapeamento Encefálico/métodos , Paralisia Cerebral/patologia , Ventrículos Cerebrais/patologia , Criança , Imagem de Difusão por Ressonância Magnética/métodos , Feminino , Humanos , Recém-Nascido , Leucomalácia Periventricular/patologia , Masculino , Fibras Nervosas/patologia , Paresia/congênito , Paresia/etiologia , Paresia/patologia , Ponte/patologia , Estudos Prospectivos , Tratos Piramidais/patologia
20.
J Bone Joint Surg Am ; 88(1): 161-70, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16391261

RESUMO

BACKGROUND: The limits of nonoperative treatment for children with cerebral palsy, including physical therapy and orthotics, commonly lead to orthopaedic surgical intervention. The purpose of the present study was to evaluate the influence of gait analysis and botulinum toxin type-A injections on the timing, prevalence, and frequency of orthopaedic surgery. METHODS: We performed a retrospective review of 424 children with cerebral palsy who had been born between 1976 and 1994. The children were divided into three groups: Group 1 comprised 122 patients who were managed throughout the entire study period according to best-practice guidelines in orthopaedics, Group 2 comprised 170 patients who were similarly managed but with input from gait analysis, and Group 3 comprised 132 patients who had gait analysis and also received botulinum toxin type-A injections. We analyzed the prevalence of orthopaedic surgical procedures at different ages (three to nine years) and the time to the first surgical procedure. RESULTS: The progression to orthopaedic surgery was significantly different among the three groups (p < 0.0001). The proportion of patients who had undergone at least one surgical procedure by the age of seven years was 52% (sixty-four of 122) for Group 1, 27% (forty-six of 170) for Group 2, and 10% (thirteen of 132) for Group 3. There was a delay in surgery in Group 2 as compared with Group 1 (p < 0.00001 at seven, eight, and nine years of age) and a significant decrease in the prevalence of orthopaedic surgical procedures for Group 3 as compared with Group 1 (p < 0.00001 at four to eight years of age) and Group 2 (p < 0.0025 at four to nine years of age). CONCLUSIONS: In the treatment of children who have cerebral palsy, the introduction of gait analysis increases the age of the first orthopaedic surgical procedure and botulinum toxin type-A treatment delays and reduces the frequency of surgical procedures.


Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Paralisia Cerebral/cirurgia , Marcha/fisiologia , Fármacos Neuromusculares/uso terapêutico , Procedimentos Ortopédicos , Fatores Etários , Fenômenos Biomecânicos , Paralisia Cerebral/tratamento farmacológico , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Terapia Combinada , Eletromiografia , Seguimentos , Humanos , Imageamento Tridimensional , Aparelhos Ortopédicos , Modalidades de Fisioterapia , Estudos Retrospectivos , Tecnologia Assistiva , Fatores de Tempo , Resultado do Tratamento , Caminhada/fisiologia
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