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1.
Psychiatry Res ; 300: 113879, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33882399

RESUMO

ADHD is a heterogeneous neurodevelopmental disorder associated with dysfunctions in several brain systems. Objective markers of brain dysfunction for clinical assessment are lacking. Many studies applying electroencephalography (EEG) and neuropsychological tests find significant differences between ADHD and controls, but the effect sizes (ES) are often too small for diagnostic purposes. This study aimed to compute a diagnostic index for ADHD by combining behavioral test scores from a cued visual go/no-go task and Event Related Potentials (ERPs). Sixty-one children (age 9-12 years) diagnosed with ADHD and 69 age- and gender-matched typically developing children (TDC) underwent EEG-recording while tested on a go/no-go task. Based on comparisons of ERP group-means and task-performance, variables that differed significantly between the groups with at least moderate ES were converted to a five points percentile scale and multiplied by the ES of the variable. The sum-scores of the variables constituted the diagnostic index. The index discriminated significantly between patients and TDC with a large ES. This index was applied to an independent sample (20 ADHD, 21 TDC), distinguishing the groups with an even larger ES. The diagnostic index described has the potential to support assessment. Further research establishing diagnostic indexes for differential diagnoses is needed.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Biomarcadores , Criança , Eletroencefalografia , Potenciais Evocados , Humanos , Testes Neuropsicológicos
2.
Eur Child Adolesc Psychiatry ; 26(3): 281-291, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27388606

RESUMO

The underlying structure of obsessive-compulsive disorder (OCD) remains to be confirmed in child and adolescent populations. In this paper we report the first factor analytic study of individual OCD items from Children's Yale-Brown Obsessive Compulsive Scale (CY-BOCS). OCD symptoms were assessed using the CY-BOCS symptom checklist in a sample of 854 patients with OCD (7-18 years of age) recruited from clinics in five countries. Pooled data were subjected to exploratory and confirmatory factor analysis (CFA) to identify the optimal factor structure. Various models were tested for age and gender subgroups. Also, the invariance of the solution across age and gender was tested and associations with demographic and clinical factors were explored. A three-factor model provided the best-fit solution. It consisted of the following factors: (1) harm/sexual, (2) symmetry/hoarding, (3) contamination/cleaning. The factor structure was invariant for age and gender across subgroups. Factor one was significantly correlated with anxiety, and factor two with depression and anxiety. Factor three was negatively correlated with tic disorder and attention-deficit/hyperactivity disorder (ADHD). Females had higher scores on factor two than males. The OCD symptom structure in children and adolescents is consistent across age and gender and similar to results from recent child and adolescents although hoarding may not be a separate factor. Our three-factor structure is almost identical to that seen in early studies on adults. Common mental disorders had specific patterns of associations with the different factors.


Assuntos
Transtornos de Ansiedade/psicologia , Ansiedade/psicologia , Transtorno Obsessivo-Compulsivo/diagnóstico , Determinação da Personalidade/estatística & dados numéricos , Comportamento Sexual/psicologia , Adolescente , Ansiedade/epidemiologia , Transtornos de Ansiedade/epidemiologia , Criança , Comorbidade , Comparação Transcultural , Análise Fatorial , Feminino , Colecionismo/epidemiologia , Colecionismo/psicologia , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/psicologia , Escalas de Graduação Psiquiátrica , Comportamento Sexual/etnologia , Adulto Jovem
3.
Hum Mol Genet ; 9(9): 1321-8, 2000 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-10814714

RESUMO

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which clinically resembles the autosomal Beckwith-Wiedemann syndrome (BWS). Deletions and translocations involving the glypican-3 gene ( GPC3 ) have been shown to be associated with SGBS. Occasionally, these deletions also include the glypican-4 gene ( GPC4 ). Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division. We have examined the mutational status of the GPC3 and GPC4 genes in one patient with Perlman syndrome, three patients with overgrowth without syndrome diagnosis, ten unrelated SGBS-patients and 11 BWS patients. We identified one SGBS patient with a deletion of a GPC3 exon. Six SGBS patients showed point mutations in GPC3. One frameshift, three nonsense, and one splice mutation predict a loss-of-function of the glypican-3 protein. One missense mutation, W296R, changes an amino acid that is conserved in all glypicans identified so far. A GPC3 protein that reproduces this mutation is poorly processed and fails to increase the cell surface expression of heparan sulfate, suggesting that this missense mutation is also a loss-of-function mutation. In three SGBS patients and in all non-SGBS patients, no mutations could be identified. We found three single nucleotide polymorphisms in the GPC4 gene but no evidence for loss-of-function mutations in GPC4 associated with SGBS.


Assuntos
Gigantismo/genética , Proteoglicanas de Heparan Sulfato/genética , Mutação , Cromossomo X , Sequência de Aminoácidos , Sequência de Bases , Síndrome de Beckwith-Wiedemann/genética , Western Blotting , Linhagem Celular , Análise Mutacional de DNA , Éxons , Citometria de Fluxo , Deleção de Genes , Glipicanas , Humanos , Modelos Genéticos , Dados de Sequência Molecular , Família Multigênica , Mutação de Sentido Incorreto , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Homologia de Sequência de Aminoácidos , Síndrome , Translocação Genética
4.
Tidsskr Nor Laegeforen ; 119(2): 189-93, 1999 Jan 20.
Artigo em Norueguês | MEDLINE | ID: mdl-10081348

RESUMO

All 271 liveborn infants with birthweight < or = 1,500 g born of mothers residing in Nordland county during 1978-89 were studied retrospectively. Mean birthweight was 1,083 g, mean gestational age 29 weeks and 21% of the children were growth retarded. 18% of the newborns were transported from local hospitals to a neonatal intensive care unit, most of them (82%) by the unit's transport team. The number of infants delivered by caesarean section increased during the study period. 103 children (38%) died before the age of four. 15 children (6%) died after the newborn period, mostly due to bronchopulmonary dysplasia (n = 8) and sudden infant death syndrome (n = 4). Mortality rate corrected for birthweight < or = 500 g, lethal malformations and sudden infant death syndrome was 32%. The proportion of liveborn children suffering from cerebral palsy was 4.8%. Although the mortality rate remained unchanged during the study period, the proportion of disabilities decreased.


Assuntos
Recém-Nascido de muito Baixo Peso , Adolescente , Adulto , Criança , Pré-Escolar , Crianças com Deficiência , Feminino , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Terapia Intensiva Neonatal/normas , Noruega/epidemiologia , Estudos Retrospectivos , Morte Súbita do Lactente/epidemiologia , Taxa de Sobrevida , Transporte de Pacientes
5.
Acta Paediatr ; 87(4): 446-51, 1998 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9628304

RESUMO

OBJECTIVE: To evaluate the outcome for very low birthweight (VLBW) infants in northern Norway. SUBJECTS AND METHODS: All live born infants (n = 536) with birthweight < or = 1500 g born during 1978-89 to women residing in the northern health region of Norway were studied retrospectively. Data were from the Medical Birth Registry (MBR), hospital records and from follow-up recordings to 4 y of age at maternal and child health centres. Stillborn infants (n = 269) with birthweight < or = 1500 g during the same period were also registered. RESULTS: The annual incidence of live born VLBW infants (7.1/1000 live births) did not change, but the proportion of infants born alive before 26 weeks' gestation increased and the stillborn part decreased significantly. The Caesarean section (CS) rate, antenatal transfer and the use of a neonatal transport team increased significantly. Four hundred and seventy-five infants (89%) were considered viable at birth, 347 (65%) survived to 1 y and 343 (64%) to 4 y. The likelihood of survival was independently related to female gender. The trend for survival to 4 y of age did not increase significantly. Thirty children suffered from cerebral palsy (8.7% of survivors, 5.6% of live births) and the cerebral palsy rate for infants with birthweight 751-1000 g decreased. The proportion of survivors considered to be normal or mild disabled increased and the part suffering from moderate or severe disability decreased significantly. CONCLUSIONS: In spite of long distances and unfavourable climatic conditions VLBW infants can be adequately cared for in this sparsely populated region of Norway.


Assuntos
Atenção à Saúde , Doenças do Recém-Nascido/epidemiologia , Recém-Nascido de muito Baixo Peso , Terapia Intensiva Neonatal , Regiões Árticas , Feminino , Humanos , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/prevenção & controle , Masculino , Noruega/epidemiologia , Estudos Retrospectivos , Sobreviventes
6.
Tidsskr Nor Laegeforen ; 118(10): 1556-8, 1998 Apr 20.
Artigo em Norueguês | MEDLINE | ID: mdl-9615582

RESUMO

Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.


Assuntos
Anormalidades Múltiplas/diagnóstico , Face/anormalidades , Transtornos do Crescimento/genética , Neoplasias Embrionárias de Células Germinativas/etiologia , Anormalidades Múltiplas/genética , Criança , Diagnóstico Diferencial , Orelha Externa/anormalidades , Feminino , Transtornos do Crescimento/complicações , Transtornos do Crescimento/diagnóstico , Humanos , Hipertelorismo/diagnóstico , Hipertelorismo/genética , Masculino , Anormalidades da Boca/diagnóstico , Anormalidades da Boca/genética , Neoplasias Embrionárias de Células Germinativas/genética , Desempenho Psicomotor , Fatores de Risco , Síndrome , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética
7.
Tidsskr Nor Laegeforen ; 110(30): 3847-50, 1990 Dec 10.
Artigo em Norueguês | MEDLINE | ID: mdl-2281445

RESUMO

About 15,000 babies have participated in infant aquatic programmes in Norway since swimming classes for infants and toddlers started in 1979. This article reviews the historical development of infant swimming, describes how it is practised today, and discusses physiological reactions and positive effects on the psychomotoric development of children, as well as potential risks.


Assuntos
Natação/história , Pré-Escolar , História do Século XX , Humanos , Lactente , Recém-Nascido , Noruega , Fatores de Risco
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