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1.
J Clin Med ; 12(4)2023 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-36836022

RESUMO

There is a striking lack of systematic knowledge regarding the symptom burden, capacity for activities of daily living, and supportive measures for the most severely ill ME/CFS patients. The present study seeks to address this through a national, Internet-based survey targeting patients with severe and very severe ME/CFS and their carers. Responses from 491 patients were included, with 444 having severe and 47 very severe ME/CFS with the classification based on the best estimate from patient responses. In addition, 95 respondents were reclassified from patients' own classification to moderate and included for comparison. The onset was before 15 years of age for 45% in the very severe and 32% in the severe group. Disease duration was more than 15 years for 19% in the very severe and 27% in the severe group. Patient symptom burden was extensive. The most severely affected were totally bedridden, unable to talk, and experienced dramatic worsening of symptoms after minimal activity or sensory stimuli. Care and assistance from healthcare and social services were often described as insufficient or inadequate, often worsening the symptom load and burden of care. A substantial lack of disease knowledge among healthcare providers in general was reported. Yet approximately 60% in the severe and very severe groups found services provided by occupational therapists and family doctors (general practitioners) helpful, while a smaller proportion experienced appropriate help from other health personnel groups. This indicates that help and support are highly needed and possible to provide. On the other hand, this must be approached carefully, as a substantial number of patients experienced deterioration from contact with healthcare personnel. Family carers described an extensive burden of care with often inadequate help from healthcare providers or municipal authorities. Patient care by family members of very severe ME/CFS patients constituted more than 40 h a week for 71% of this patient group. The carers described a large negative impact on their work and financial situation, and on their mental wellbeing. We conclude that childhood onset was common, burden of disease was extensive, and support from responsible societal health and social support providers was commonly grossly inadequate.

2.
JCI Insight ; 6(16)2021 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-34423789

RESUMO

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating disease usually presenting after infection. Emerging evidence supports that energy metabolism is affected in ME/CFS, but a unifying metabolic phenotype has not been firmly established. We performed global metabolomics, lipidomics, and hormone measurements, and we used exploratory data analyses to compare serum from 83 patients with ME/CFS and 35 healthy controls. Some changes were common in the patient group, and these were compatible with effects of elevated energy strain and altered utilization of fatty acids and amino acids as catabolic fuels. In addition, a set of heterogeneous effects reflected specific changes in 3 subsets of patients, and 2 of these expressed characteristic contexts of deregulated energy metabolism. The biological relevance of these metabolic phenotypes (metabotypes) was supported by clinical data and independent blood analyses. In summary, we report a map of common and context-dependent metabolic changes in ME/CFS, and some of them presented possible associations with clinical patient profiles. We suggest that elevated energy strain may result from exertion-triggered tissue hypoxia and lead to systemic metabolic adaptation and compensation. Through various mechanisms, such metabolic dysfunction represents a likely mediator of key symptoms in ME/CFS and possibly a target for supportive intervention.


Assuntos
Metabolismo Energético , Síndrome de Fadiga Crônica/metabolismo , Adulto , Aminoácidos/metabolismo , Estudos de Casos e Controles , Ácidos Graxos/metabolismo , Feminino , Voluntários Saudáveis , Humanos , Masculino , Metabolômica , Pessoa de Meia-Idade
3.
Early Hum Dev ; 135: 44-49, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31255959

RESUMO

OBJECTIVE: To investigate development and predictors of mental health problems from five to eleven years of age in children born extremely preterm (EP). METHOD: In a national Norwegian cohort of children born before a gestational age of 28 weeks or with a birthweight <1000 g mental health was assessed by parents at five and eleven years of age using The Strengths and Difficulties Questionnaire. A Total Difficulties Score ≥ 90th percentile (TDS90) for a reference group was used as a measure of a mental health problem. Of 338 eligible EP children, 162 (48%) attended at both ages. RESULTS: The rate of TDS90 was 52 (32%) at five and 37 (23%) at eleven years of age (p = 0.025). Of the 52 children with TDS90 at five years, 25 had TDS90 at eleven years of age, and of 37 children with TDS90 at eleven, 25 had TDS90 at five years of age. Mental health problems and an IQ of 70-84 at five years were independent predictors of TDS90 at eleven years of age. CONCLUSION: The rate of mental health problems decreased from five to eleven years, but individual stability was moderate. Mental health problems and intellectual function in the lower normal range at preschool age were independent predictors of later mental health problems.


Assuntos
Desenvolvimento Infantil , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Saúde Mental , Transtornos do Neurodesenvolvimento/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente Extremamente Prematuro/psicologia , Recém-Nascido , Masculino , Comportamento Problema
4.
Eur Child Adolesc Psychiatry ; 26(12): 1523-1531, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28585081

RESUMO

The aims were to investigate mental health problems with the Strength and Difficulties Questionnaire (SDQ) in children born extremely preterm/extremely low birth weight (EP/ELBW) without severe disabilities compared to controls, and to identify peri-, or neonatal factors possibly predicting later mental health problems. A national Norwegian cohort of 11-year-old EP/ELBW children, excluding those with intellectual disabilities, non-ambulatory cerebral palsy, blindness and/or deafness, was assessed. Parents and teachers completed the SDQ. Mean scores and scores ≥90th percentile for the control group, combined (parent and/or teacher reporting the child ≥90th percentile), and pervasive ratings (both parent and teacher reporting the child ≥90th percentile) were presented. The controls consisted of an unselected population of all 11-year-old children born in 1995 who attended public or private schools in Bergen. Of the eligible children, 216 (64%) EP/ELBW and 1882 (61%) control children participated. The EP/ELBW children had significantly higher scores and/or increased risk of parent, teacher, combined, and pervasive rated hyperactivity/inattention, emotional-, and peer problems (OR 2.1-6.3). Only parents reported the EP/ELBW children to be at an increased risk of conduct problems (OR 1.6, 95% CI 1.1-2.6). Only low maternal education at birth was significantly associated with mental health problems at 11 years of age (OR 2.5, 95% CI 1.2-5.4). EP/ELBW children without severe disabilities had increased risk of symptoms of hyperactivity/inattention, emotional-, and peer problems. None of the peri- or neonatal factors were significantly associated with later mental health problems, except for low maternal education.


Assuntos
Deficiências do Desenvolvimento/psicologia , Lactente Extremamente Prematuro/psicologia , Saúde Mental/tendências , Adulto , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Noruega , Inquéritos e Questionários
5.
JCI Insight ; 1(21): e89376, 2016 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-28018972

RESUMO

Myalgic encephalopathy/chronic fatigue syndrome (ME/CFS) is a debilitating disease of unknown etiology, with hallmark symptoms including postexertional malaise and poor recovery. Metabolic dysfunction is a plausible contributing factor. We hypothesized that changes in serum amino acids may disclose specific defects in energy metabolism in ME/CFS. Analysis in 200 ME/CFS patients and 102 healthy individuals showed a specific reduction of amino acids that fuel oxidative metabolism via the TCA cycle, mainly in female ME/CFS patients. Serum 3-methylhistidine, a marker of endogenous protein catabolism, was significantly increased in male patients. The amino acid pattern suggested functional impairment of pyruvate dehydrogenase (PDH), supported by increased mRNA expression of the inhibitory PDH kinases 1, 2, and 4; sirtuin 4; and PPARδ in peripheral blood mononuclear cells from both sexes. Myoblasts grown in presence of serum from patients with severe ME/CFS showed metabolic adaptations, including increased mitochondrial respiration and excessive lactate secretion. The amino acid changes could not be explained by symptom severity, disease duration, age, BMI, or physical activity level among patients. These findings are in agreement with the clinical disease presentation of ME/CFS, with inadequate ATP generation by oxidative phosphorylation and excessive lactate generation upon exertion.

6.
Pediatrics ; 137(4)2016 04.
Artigo em Inglês | MEDLINE | ID: mdl-26944946

RESUMO

OBJECTIVE: To describe the prevalence and gender characteristics of mental health problems in extremely preterm/extremely low birth weight (EP/ELBW) children without intellectual disabilities, blindness, deafness, or severe cerebral palsy compared with a reference group at 11 years of age. METHODS: In a national cohort of EP/ELBW children, mental health was assessed by parental and teacher report by using the Autism Spectrum Screening Questionnaire, the Swanson, Noland, and Pelham Questionnaire IV (attention-deficit/hyperactivity disorder), the Screen for Child Anxiety Related Emotional Disorders, symptoms of obsessive-compulsive disorder (OCD), and a total difficulties score from the Strength and Difficulties Questionnaire. Pervasive rating was defined as both parent and teacher scoring the child ≥95th percentile (≥90th percentile for total difficulties score) of the reference group, which was the population-based Bergen Child Study. RESULTS: Of eligible children, 216 (64%) EP/ELBW and 1882 (61%) reference children participated. EP/ELBW children were at significantly increased risk of pervasive rated symptoms of autism (odds ratio 4.3, 95% confidence interval 2.0-9.3), inattention (8.3, 4.4-15), anxiety (2.3, 1.4-3.7), OCD (2.6, 1.4-3.7), and ≥90th percentile for total difficulties score (4.9, 2.9-8.2). Reported by either parents or teachers, 54% of the EP/ELBW and 21% of the reference children had ≥1 mental health problem (odds ratio 4.5, 95% confidence interval 3.3-6.1). There were no significant interactions between EP/ELBW and gender in mental health outcomes. CONCLUSIONS: EP/ELBW children without severe disabilities had increased risk of symptoms of autism, inattention, anxiety, and OCD. Gender differences were comparable to the reference group.


Assuntos
Lactente Extremamente Prematuro/psicologia , Saúde Mental , Ansiedade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtorno Obsessivo-Compulsivo/epidemiologia , Psicologia da Criança , Inquéritos e Questionários
7.
Eur Child Adolesc Psychiatry ; 24(4): 463-70, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25304291

RESUMO

ADHD is more common in children born preterm than at term. The purpose of the study was to examine if, and to what extent, ADHD symptoms are associated with minor neurodevelopmental impairments (NDI) in extremely preterm children. In a national population-based cohort with gestational age 22-27 weeks or birth weight <1,000 g assessed at 5 years of age, scores on Yale Children's Inventory (YCI) scales (seven scales) were related to normal functions vs. NDI defined as mild impairments in cognitive function (IQ 70-84), motor function (Movement Assessment Battery for children score > the 95th percentile or freely ambulatory cerebral palsy), vision (correctable), and hearing (no hearing aid). YCI was completed for 213 of 258 eligible children (83%). Children with minor NDIs (n = 98) had significantly higher scores (more ADHD symptoms) than those without NDI (n = 115) on the YCI scales of Attention, Tractability, Adaptability and Total score. Increasing numbers of minor NDIs were associated with higher mean YCI scores. In multivariate analysis only decreased hearing, IQ, and male gender were significantly associated with scores on the Attention scale. Thirty-three children (16%) had scores >3 on the Attention scale (probably ADHD), and the proportion was significantly higher for those with mild NDIs compared to those without (Odds ratio = 2.7, 95% CI 1.3-6.0). Children born extremely preterm with minor NDIs were more likely to have ADHD symptoms than those with no NDI, and increasing number of minor NDIs were associated with more ADHD symptoms.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Desenvolvimento Infantil , Deficiências do Desenvolvimento , Lactente Extremamente Prematuro , Recém-Nascido Prematuro , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Peso ao Nascer , Paralisia Cerebral , Criança , Cognição , Deficiências do Desenvolvimento/diagnóstico , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente Extremamente Prematuro/fisiologia , Lactente Extremamente Prematuro/psicologia , Recém-Nascido , Masculino , Testes Neuropsicológicos , Noruega , Estudos Prospectivos
8.
Acta Paediatr ; 102(4): 403-9, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23331087

RESUMO

AIM: To investigate whether absent or reversed end-diastolic flow in the umbilical artery (AREDF) is associated with neonatal mortality, morbidity or long-term neurocognitive outcome in extremely preterm infants exposed to preeclampsia or intrauterine growth restriction. METHODS: Prenatal Doppler data were retrospectively collected for liveborn infants with gestational age (GA) <28 weeks or birth weight (BW) <1000 g, born small for gestational age (SGA- BW <5th percentile for GA) or of mothers with preeclampsia at the four largest university hospitals in Norway during 1999-2000. Neonatal mortality and morbidities, cerebral palsy (CP) and IQ at 5 years of age were compared for infants with or without AREDF. RESULTS: Of 260 infants, 84 were eligible and 71 of them had sufficient Doppler data. Of these, 38 (54%) had AREDF. Of 33 infants born <28 weeks, 7 of 19 (37%) with AREDF and none of 14 without AREDF had severe cerebral haemorrhage (SCH) (p = 0.01). AREDF was not significantly associated with mortality, other NICU morbidities, CP or reduced IQ. For the 38 infants with GA ≥28 weeks, AREDF (19 of 38) was not associated with adverse outcomes. CONCLUSION: Absent or reversed end-diastolic flow in the umbilical artery (AREDF) was associated with increased risk of SCH in extremely preterm infants (GA <28 weeks).


Assuntos
Transtornos Cognitivos/etiologia , Retardo do Crescimento Fetal , Pré-Eclâmpsia , Artérias Umbilicais/diagnóstico por imagem , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido Pequeno para a Idade Gestacional , Nascido Vivo , Estudos Multicêntricos como Assunto , Neuroimagem , Exame Neurológico , Noruega , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Tempo , Ultrassonografia Doppler , Ultrassonografia Pré-Natal
9.
Acta Paediatr ; 101(3): 264-70, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22026562

RESUMO

AIM: To examine the predictive value of early assessments on developmental outcome at 5 years in children born extremely preterm. METHODS: This is a prospective observational study of all infants born in Norway in 1999-2000 with gestational age (GA) <28 weeks or birth weight (BW) <1000 g. At 2 years of age, paediatricians assessed mental and motor development from milestones. At 5 years, parents completed questionnaires on development and professional support before cognitive function was assessed with Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R) and motor function with the Movement Assessment Battery for children (ABC test). RESULTS: Twenty-six of 373 (7%) children had cerebral palsy at 2 and 29 of 306 (9%) children at 5 years. Of children without major impairments, 51% (95% CI 35-67) of those with and 22% (95% CI 16-28) without mental delay at 2 years had IQ <85 at 5 years, and 36% (95% CI 20-53 with and 16% (95% CI 11-21) without motor delay at 2 years had an ABC score >95th percentile (poor function). Approximately half of those without major impairments but IQ <85 or ABC score >95th percentile had received support or follow-up beyond routine primary care. CONCLUSION: Previous assessments had limited value in predicting cognitive and motor function at 5 years in these extremely preterm children without major impairments.


Assuntos
Transtorno Autístico/diagnóstico , Paralisia Cerebral/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Perda Auditiva/diagnóstico , Recém-Nascido Prematuro , Transtornos da Visão/diagnóstico , Transtorno Autístico/epidemiologia , Transtorno Autístico/etiologia , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/etiologia , Desenvolvimento Infantil , Pré-Escolar , Cognição , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Feminino , Seguimentos , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Prematuro/psicologia , Modelos Logísticos , Masculino , Noruega/epidemiologia , Prognóstico , Estudos Prospectivos , Testes Psicológicos , Desempenho Psicomotor , Risco , Inquéritos e Questionários , Transtornos da Visão/epidemiologia , Transtornos da Visão/etiologia
10.
Pediatrics ; 127(3): e630-8, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21321031

RESUMO

OBJECTIVE: To examine the prevalence of neurodevelopmental disability and the predictive value of pre-, peri-, and postnatal data on neurologic, sensory, cognitive, and motor function in children born extremely preterm. METHODS: This was a prospective observational study of all infants born in Norway between 1999 and 2000 with gestational ages between 22 and 27 weeks or birth weights between 500 and 999 g. Cognitive function was assessed with the Wechsler Preschool and Primary Scale of Intelligence-Revised, motor function with the Movement Assessment Battery for Children, and severity of cerebral palsy with the Gross Motor Function Classification for Cerebral Palsy. Disabilities were described as mild, moderate, or severe. RESULTS: Of 371 eligible children, 306 (82%) were examined at a mean (SD) age of 5 years and 10 (4) months. For gestational age less than 28 weeks (n = 239), 26 (11%) children had cerebral palsy alone (n = 21) or in combination with blindness (n = 3) or deafness (n = 2); 1 was blind and 1 was deaf. Of the remaining children, the mean full-scale IQ was 94 ± 15, and significant predictors were (values given as the difference in IQ points [95% confidence intervals]) high maternal education (9.6 [5.7-13.4]), preeclampsia (-7.7 [-12.7 to -2.7]), and retinopathy of prematurity higher than grade 2 (-17.5 [-27.1 to -8.0]). Movement Assessment Battery for Children scores were positively associated with gestational age and prenatal steroids and negatively associated with being small for gestational age, male gender, and having retinopathy of prematurity. Moderate to severe neurodevelopmental disability was more common for gestational ages 25 weeks or less (28 of 87 children) than for 26 to 27 weeks (12 of 152 children; P < .001) and 28 weeks or more (7 of 67 children; P = .001). CONCLUSIONS: The outcome was poorer for children with gestational ages of 25 weeks or less compared with those with gestational ages between 26 and 27 weeks. For those without cerebral palsy, blindness, or deafness, however, gestational age had a limited association with cognitive and motor function.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Recém-Nascido Prematuro , Transtornos de Sensação/epidemiologia , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Testes Neuropsicológicos , Noruega/epidemiologia , Prognóstico , Estudos Prospectivos , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/etiologia , Índice de Gravidade de Doença , Inquéritos e Questionários , Fatores de Tempo
11.
Early Hum Dev ; 86(9): 581-6, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20800392

RESUMO

BACKGROUND: Extreme prematurity carries a high risk of neurosensory disability. AIMS: Examine which information obtained pre-, peri- and postnatally may be predictive of neurosensory disabilities at 2 years of age. STUDY DESIGN: Prospective observational study of all infants born in Norway in 1999 and 2000 with gestational age (GA) 22-27 completed weeks or birth weight (BW) of 500-999 g. OUTCOME MEASURES: Incidence of neurosensory disabilities. RESULTS: Of 373 surviving children, 30 (8%) had major neurosensory disabilities (26 CP, 6 blind, 3 deaf), and a further 46 (12%) had minor visual or hearing disabilities. The rate of major neurosensory disabilities was 19 of 99 (19%) for children with GA 23-25 vs. 8 of 189 (4%) for GA 26-27 weeks (p<0.001). In a multivariable model, only morbidities detected in the neonatal intensive care unit (NICU) were associated with major neurosensory disabilities; adjusted odds ratios (95% confidence intervals) were 68.6 (18.7, 252.2) for major abnormalities on cerebral ultrasound, 6.8 (1.7, 27.4) for retinopathy of prematurity (ROP) grade>2, 3.2 (1.0, 9.7) for ROP grade 1-2, 6.5 (1.9, 22.3) for prolonged use (> or = 21 days) of steroid treatment for lung disease and 3.1 (1.0, 9.4) for clinical chorioamnionitis. The visual outcome was strongly related to the degree of ROP (p<0.001), and all who had a normal hearing screen in the NICU had normal hearing at 2 years. CONCLUSION: NICU morbidities, rather than GA or intrauterine growth are the significant predictors of major neurosensory disabilities among extreme prematurity surviving to discharge from the NICU.


Assuntos
Paralisia Cerebral/epidemiologia , Recém-Nascido Prematuro/fisiologia , Retinopatia da Prematuridade/epidemiologia , Transtornos de Sensação/epidemiologia , Pré-Escolar , Idade Gestacional , Humanos , Recém-Nascido , Modelos Logísticos , Modelos Estatísticos , Noruega/epidemiologia , Razão de Chances , Valor Preditivo dos Testes , Estudos Prospectivos
12.
Arch Dis Child Fetal Neonatal Ed ; 95(3): F201-5, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20444812

RESUMO

OBJECTIVE: To compare trajectories for growth and somatic health characteristics until adulthood of non-handicapped low birthweight (LBW) and normal birthweight (NBW) children. STUDY DESIGN: Population-based longitudinal follow-up study. PATIENTS: LBW (<2 kg) and NBW (>3 kg) children were followed at 5, 11 and 19 years of age. At 19 years 134 of 173 subjects with LBW (77%), and 135 of the 170 with NBW (79%) participated. RESULTS: Current health and body mass index (BMI) were similar for the groups. The LBW adults were shorter (5.9 cm), had higher systolic (4.5 mm Hg) and diastolic (2.0 mm Hg) blood pressures (BPs), higher heart rates (3.7 beats per min), lower forced expiratory flow at 50% of forced vital capacity (8.5%) and forced expiratory volume in 1 second/forced vital capacity ratios (0.03). All p values are <0.01 for the differences of means given above. Differences in height were mostly due to differences in parental height. From childhood, percentiles for height and systolic BP were maintained for both groups while diastolic BP increased more for the LBW children. The LBW young adults caught up in body proportions. CONCLUSION: Difference in height and systolic BP between the LBW and NBW children tend to be maintained from childhood until young adulthood. The LBW young adults experience catch-up growth in body proportions. The LBW young adults have lower pulmonary function.


Assuntos
Recém-Nascido de Baixo Peso/crescimento & desenvolvimento , Antropometria/métodos , Peso ao Nascer/fisiologia , Pressão Sanguínea/fisiologia , Estatura/fisiologia , Índice de Massa Corporal , Estudos de Casos e Controles , Feminino , Seguimentos , Frequência Cardíaca/fisiologia , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Masculino , Prognóstico , Ventilação Pulmonar/fisiologia , Fatores Socioeconômicos , Capacidade Vital/fisiologia
13.
Neuromuscul Disord ; 16(9-10): 559-63, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16935506

RESUMO

We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom Coats' disease, deafness, mental retardation and possible epilepsy were the presenting features. The children have a 4q35 deletion giving a small residual repeat fragment that they have inherited from their father who is a mosaic. Fundal changes consistent with bilateral Coats' disease were found in both children. The rapid development of neovascular glaucoma necessitated removal of an eye from one child that on pathological examination showed the classical features of Coats' disease. Cryotherapy was successful in maintaining sight in the other affected eyes.


Assuntos
Oftalmopatias Hereditárias/genética , Predisposição Genética para Doença/genética , Perda Auditiva Neurossensorial/genética , Deficiência Intelectual/genética , Distrofia Muscular Facioescapuloumeral/genética , Mutação/genética , Adolescente , Adulto , Pré-Escolar , Cromossomos Humanos Par 4/genética , Análise Mutacional de DNA , Progressão da Doença , Epilepsia/complicações , Epilepsia/genética , Epilepsia/fisiopatologia , Oftalmopatias Hereditárias/complicações , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Testes Genéticos , Glaucoma/complicações , Glaucoma/genética , Glaucoma/fisiopatologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Padrões de Herança/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/fisiopatologia , Masculino , Debilidade Muscular/metabolismo , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Linhagem , Doenças Retinianas/complicações , Doenças Retinianas/genética , Doenças Retinianas/fisiopatologia
14.
Eur Child Adolesc Psychiatry ; 15(5): 292-9, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16583124

RESUMO

UNLABELLED: The aims of the study were to explore hyperactivity-inattention (HI) symptoms and co-existing symptoms of emotional and behavioural problems among African school children and their relationship with health status, socio-demographic factors, and school performance. METHOD: A case-control approach was used. The Strengths and Difficulties Questionnaire (SDQ) was used to explore the co-existing emotional and behavioural symptoms and a semi-structured interview with parents to explore the socio-demographic variables. The sample included 357 school children at the age of 7-9 years: 183 children were defined as cases, defined by abnormal scores on the SDQ-HI scale and 174 randomly selected children among those with normal scores on the SDQ-HI were defined as controls. No age and gender differences were noticed between the two groups. RESULTS: A younger maternal age at childbirth, and poor school performances were more frequent among cases than controls. Three quarter of the hyperactive-inattentive children had co-existing symptoms according to SDQ, the most common being conduct problems. CONCLUSION: As in other cultures, co-existence of HI symptoms and emotional and behavioural problems was found in this African setting. Further validation of behavioural screening instruments in African children is called for.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Nível de Saúde , Transtornos da Audição/epidemiologia , Deficiência Intelectual/epidemiologia , Estudantes/estatística & dados numéricos , Transtornos da Visão/epidemiologia , Estudos de Casos e Controles , Área Programática de Saúde , Criança , Comorbidade , Estudos Transversais , República Democrática do Congo , Demografia , Feminino , Transtornos da Audição/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Testes de Inteligência , Masculino , Fatores de Risco , Inquéritos e Questionários , Transtornos da Visão/diagnóstico
15.
Acta Paediatr ; 95(2): 231-5, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16449032

RESUMO

AIM: To examine whether chorioamnionitis (CA) is associated with long-term cognitive impairment in low-birthweight (LBW) children without major handicaps such as cerebral palsy. METHODS: Population-based long-term follow-up study at 11 y of age of 130 LBW children with birthweight less than 2,000 g, without major handicaps. Thirteen children with maternal signs of clinical CA were compared with the 117 LBW children without. Main outcome measure was psychometric intelligence, assessed using four subscales from the Norwegian version of the Wechsler Intelligence Scale for Children -- Revised. RESULTS: Mean performance IQ for the LBW children with maternal signs of CA (89, SD 13) was significantly lower compared to the other LBW children (98, SD 16) at 11 y of age (difference of mean 10, 95% CI of difference 0.4 to 19, p=0.04). CONCLUSION: Maternal chorioamnionitis, known to be associated with an increased frequency of cerebral palsy, may have lasting negative consequences for fetal brain development, resulting in long-term cognitive impairments, even when major handicaps such as cerebral palsy are absent.


Assuntos
Corioamnionite/epidemiologia , Transtornos Cognitivos/epidemiologia , Mães , Complicações na Gravidez/epidemiologia , Adulto , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Testes Neuropsicológicos , Gravidez , Índice de Gravidade de Doença , Fatores de Tempo
16.
Pediatr Neurosurg ; 41(6): 300-4, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16293949

RESUMO

BACKGROUND: Shunt failure is by far the most frequent problem in children with shunts, and most of them will experience this condition at some point in their lives. In order to identify causes of shunt failure, and to compare multi-component and one-piece shunt systems, we analyzed retrospectively all pediatric shunt procedures in our Department during an 11-year period. The study does not deal with shunt infections. METHODS: We reviewed the records of all pediatric shunting procedures between January 1986 and December 1996. RESULTS: The study included 161 children operated for hydrocephalus with a total of 431 procedures. The procedures included 124 (29%) primary insertions, 10 (2%) reinsertions and 297 (69%) revisions; 206 (69%) of the revisions were due to shunt failures, of which 74 (36%) were caused by the failure of the surgical technique (misplaced ventricular catheters, disconnected shunts, or misplaced peritoneal catheters). CONCLUSIONS: Improvement of the surgical technique may reduce the incidence of shunt failures and revisions. The results obtained in a small department like ours do not seem to differ substantially from those obtained in more specialized departments with a larger patient group. Practical measures that may reduce the risk of shunt failures are suggested.


Assuntos
Derivações do Líquido Cefalorraquidiano/efeitos adversos , Hidrocefalia/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Adolescente , Criança , Falha de Equipamento , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/cirurgia , Reoperação/estatística & dados numéricos , Fatores de Risco
17.
Acta Paediatr ; 94(9): 1203-7, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16278985

RESUMO

AIMS: To describe and compare physical growth, current health status, functional limitations and neurodevelopmental impairments (defined as low IQ, school problems or psychiatric disorder) at 11 y of age in a population of non-handicapped low-birthweight (LBW) children with that of normal-birthweight (NBW) children. METHODS: A population-based sample of 130 LBW children (weighing less than 2000 g at birth) without major handicaps, and a random sample of 131 NBW children born at term. Somatic and mental health and cognitive abilities were assessed through questionnaires to parents, a physical examination, standardized tests of cognitive function (WISC-R) and a semi-structured interview (Children Assessment Schedule). RESULTS: General somatic health status was similar for the LBW and NBW children. The LBW children were shorter (mean difference -2.5 cm; 95% CI -0.9 to -4.2) and had a smaller head circumference (mean difference -0.8 cm; 95% CI -0.4 to -1.1) but similar weights and body mass indices. Differences and similarities in anthropometric measures were the same at 5 and 11 y of age. The LBW children had higher systolic (mean difference 3.2 mmHg; 95% CI -0.6 to -0.3) but similar diastolic blood pressure. A higher proportion of LBW children had decreased visual acuity and hearing impairment. Forty per cent of LBW children had neurodevelopmental impairments, compared to 20% of NBW children (OR 2.6; 95% CI 1.5 to 4.5). CONCLUSION: At 11 y of age, survivors of moderately low birthweight without major handicaps may have generally good health, but are at risk of neurodevelopmental impairments.


Assuntos
Nível de Saúde , Recém-Nascido de Baixo Peso/crescimento & desenvolvimento , Antropometria , Estatura/fisiologia , Índice de Massa Corporal , Peso Corporal/fisiologia , Pesos e Medidas Corporais , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Recém-Nascido , Exame Neurológico
18.
Pediatr Neurol ; 33(5): 357-64, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16243224

RESUMO

The aims of the study were: (1) to describe the performance of African children with symptoms of attention-deficit hyperactivity disorder on selected neuropsychologic tests and compare it with performance among peers of the same age without symptoms; (2) to explore through a factor analysis if the selected tests cover the same functions as known from studies in Europe and North America. A nested case-control approach was used to select the two groups of children. The tests were selected to measure aspects of executive functions, attention and memory functions as well as motor skills. A total of 185 schoolchildren (28 cases and 157 control subjects) aged 85 to 119 months old were included. The findings indicate only minor difference between children with symptoms of attention-deficit hyperactivity disorder and control subjects in most of the tasks. However, children with symptoms of attention-deficit hyperactivity disorder performed more poorly on tests of motor skills and had more violations of rules on the planning task. The factor analysis indicated a three-factor model, confirming that the selected tests could be used as measures of executive/motor functions, attention, and memory functions. Similar findings have been reported among children in Europe and North America.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/etnologia , Cognição , Atenção , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Estudos de Casos e Controles , Criança , República Democrática do Congo/epidemiologia , Humanos , Memória , Destreza Motora , Testes Neuropsicológicos , Psicometria
19.
Eur Child Adolesc Psychiatry ; 14(4): 208-15, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15981132

RESUMO

AIM: In Africa, little is known about child mental health. This study piloted the Strengths and Difficulties Questionnaire (SDQ) in Kinshasa, investigated mental health problems and the association between these problems and school performance, demographic factors, illness and nutrition. METHODS: An epidemiological survey was conducted with 1,187 children, 7-9 years old, recruited from randomly selected schools. Mental health problems were assessed with the SDQ (a behavioural screening tool) administered to teachers. Stability of the factor structure was examined using principal component factor analysis of the SDQ items. The reliability was evaluated using measures of internal consistency of the SDQ scales. RESULTS: Factor analysis yielded five factors, similar to the published SDQ scales. The internal consistency was satisfactory on all of the SDQ scales. Using the 90th percentile, the cut-off scores were somewhat higher than the published cut-off scores in this younger sample. Poor nutrition, low socioeconomic status and illness were found to increase the risk for mental health problems and low school performance. CONCLUSION: SDQ may be considered useful to describe mental health problems among urban African children in Kinshasa. An association between mental health, school performance, demographic factors, illness and nutrition was found.


Assuntos
Transtornos Mentais/epidemiologia , Criança , Fenômenos Fisiológicos da Nutrição Infantil , República Democrática do Congo/epidemiologia , Escolaridade , Análise Fatorial , Feminino , Nível de Saúde , Inquéritos Epidemiológicos , Humanos , Modelos Logísticos , Masculino , Análise Multivariada , Projetos Piloto , Fatores de Risco
20.
Tidsskr Nor Laegeforen ; 124(19): 2486-7, 2004 Oct 07.
Artigo em Norueguês | MEDLINE | ID: mdl-15477886

RESUMO

BACKGROUND: Based on results from a national survey we discuss the status and prospects of Norwegian child neurology and habilitation. MATERIAL AND METHODS: A questionnaire on neurology and habilitation was sent to all 22 Norwegian departments of paediatrics. RESULTS: All departments responded. The organisation of services varied considerably. Only one department registered children admitted for neurological disorders specifically. Habilitation was mainly based on out-patient services. The number of out-patient neurology consultations in relation to regional population varied with a factor of 5.3 from the department with lowest to the one with highest number of cases. Corresponding factors were 5.9 for number of habilitation consultations per year, 3.6 for paediatricians in child neurology and habilitation, and 5.6 for allied health professionals working in habilitation units. In Norway there were 61 physicians working in child neurology and habilitation. Several departments were active in work on methodology. Research was mainly carried out in university departments. INTERPRETATION: Child neurology and habilitation services are available in all Norwegian counties. There is need for more systematic registration of clinical activities, for research, including the effect of treatment and interventions, more work on methodology, more posts for graduate medical education in the field, better organisation of services for in-patients, and closer cooperation between paediatric, habilitation and community care services.


Assuntos
Crianças com Deficiência/reabilitação , Departamentos Hospitalares/organização & administração , Doenças do Sistema Nervoso/reabilitação , Neurologia/organização & administração , Pediatria/organização & administração , Criança , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Departamentos Hospitalares/estatística & dados numéricos , Unidades Hospitalares/organização & administração , Unidades Hospitalares/estatística & dados numéricos , Humanos , Doenças do Sistema Nervoso/epidemiologia , Neurologia/educação , Neurologia/estatística & dados numéricos , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/reabilitação , Noruega/epidemiologia , Pediatria/educação , Pediatria/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Inquéritos e Questionários
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