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BACKGROUND: The charity foundation Association Soutien Enfants Togo started a child health care (CHC) centre in Togo that was modelled after the Dutch high-quality CHC system to improve child health. AIM: To describe health care data of children who visited the centre. SUBJECTS AND METHODS: Data were routinely collected between October 2010-July 2017. Outcomes were completed vaccinations, growth, development, lifestyle, physical examination, and laboratory testing results. RESULTS: In total, 8,809 children aged 0-24 years were available. Half (47.5%) of children aged 0-4 years did not receive all eligible free vaccinations from the government. The proportions of stunted children (all) or with a developmental delay (0-4 years) were 10.1% and 9.5%, respectively. In total, 40-50% of all children did not wash their hands with soap after toilet or before eating, or did not use clean drinking water. Furthermore, 5.1-6.6% had insufficient vision, high eye pressure or hearing loss. Sickle cell disease was detected in 5.3%. CONCLUSION: A large group of children in need of prevention and early treatment were detected, informed and treated by the centre. Further research is needed to confirm if this strategy can improve children's health in Sub-Saharan Africa. Our data are available for further research.
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Nível de Saúde , Humanos , Pré-Escolar , Lactente , Criança , Adolescente , Masculino , Feminino , Recém-Nascido , Togo , Saúde Pública , Adulto Jovem , Serviços de Saúde da Criança/estatística & dados numéricos , Países Baixos , Saúde da Criança/estatística & dados numéricosRESUMO
AIM: Responding to developmental delay promptly is important, as it helps children to reach their full potential. This study investigated how developmental milestones predicted primary school children with special educational needs and disabilities (SEND) at an early stage. METHODS: We obtained data about 36 milestones between 12 and 45 months using the Dutch Development Instrument. Development, primary school classification and background characteristics were collected from the Dutch Preventive Child Healthcare system in Utrecht from 2008 to 2016. We investigated SEND classifications and the primary schools that the children attended at 4-12 years of age. The findings include area under the curve (AUC) data. RESULTS: Data on 30 579 children in mainstream schools and 1055 children with SEND were available. Different milestones predicted SEND classifications. Fourteen milestones and parental education predicted attendance at special needs schools with smaller classes (AUC 0.913). Nine milestones, sex, migration background and parental education predicted attendance at schools for severe communication problems (AUC 0.963). Ten milestones and parental education predicted attendance at schools for severe learning difficulties (AUC 0.995). Milestones did not accurately predict attendance at schools for severe behavioural or psychiatric problems. CONCLUSION: Milestones at 12-45 months predicted most SEND classifications at primary school age, except severe behavioural or psychiatric problems.
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Pais , Instituições Acadêmicas , Criança , Humanos , Escolaridade , Deficiências do Desenvolvimento/diagnóstico , Educação InclusivaRESUMO
BACKGROUND: Little is known about costs and effects of vision screening strategies to detect amblyopia. Aim of this study was to compare costs and effects of conventional (optotype) vision screening, photoscreening or a combination in children aged 3-6 years. METHODS: Population-based, cross-sectional study in preventive child health care in The Hague. Children aged 3 years (3y), 3 years and 9 months (3y9m) or 5-6 years (5/6y) received the conventional chart vision screening and a test with a photoscreener (Plusoptix S12C). Costs were based on test duration and additional costs for devices and diagnostic work-up. RESULTS: Two thousand, one hundred and forty-four children were included. The estimated costs per child screened were 17.44, 20.37 and 6.90 for conventional vision screening at 3y, 3y9m and 5/6y, respectively. For photoscreening, these estimates were 6.61, 7.52 and 9.40 and for photoscreening followed by vision screening if the result was unclear (combination) 9.32 (3y) and 9.33 (3y9m). The number of children detected with amblyopia by age were 9, 14 and 5 (conventional screening), 6, 13 and 3 (photoscreening) and 10 (3y) and 15 (3y9m) (combination), respectively. The estimated costs per child diagnosed with amblyopia were 1500, 1050 and 860 for conventional vision screening, 860, 420 and 1940 for photoscreening and 730 (3y) and 450 (3y9m) for the combination. CONCLUSIONS: Combining photoscreening with vision screening seems promising to detect amblyopia in children aged 3y/3y9m, whereas conventional screening seems preferable at 5/6y. As the number of study children with amblyopia is small, further research on the effects of these screening alternatives in detecting children with amblyopia is recommended.
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Ambliopia , Seleção Visual , Ambliopia/diagnóstico , Criança , Saúde da Criança , Estudos Transversais , Atenção à Saúde , Humanos , Lactente , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
AIM: To investigate the differences in attainment of developmental milestones between young males with Duchenne muscular dystrophy (DMD) and young males from the general population. METHOD: As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with Duchenne Muscular Dystrophy), data on developmental milestones for 76 young males with DMD and 12 414 young males from a control group were extracted from the health care records of youth health care services. The characteristics of DMD were acquired from questionnaires completed by parents. Logistic regression analyses were performed with milestone attainment (yes/no) as the dependent variable and DMD (yes/no) as the independent variable, with and without adjustment for age at visit. RESULTS: The mean number of available milestones was 43 (standard deviation [SD]=13, range: 1-59) in the DMD group and 40 (SD=15, range: 1-60) in the control group. The presence of developmental delay was evident at 2 to 3 months of age, with a higher proportion of young males with DMD failing to attain milestones of gross/fine motor activity, adaptive behaviour, personal/social behaviour, and communication (range age-adjusted odds ratios [ORs]=2.3-4.0, p<0.01). Between 12 and 36 months of age, differences in the attainment of developmental milestones concerning gross motor activity increased with age (range age-adjusted ORs=10.3-532, p<0.001). We also found differences in developmental milestones concerning fine motor activity, adaptive behaviour, personal/social behaviour, and communication between 12 and 48 months of age (range age-adjusted ORs=2.5-9.7, p<0.01). INTERPRETATION: We found delays in the attainment of motor and non-motor milestones in young males with DMD compared to the control group. Such delays were already evident a few months after birth. Developmental milestones that show a delay in attainment have the potential to aid the earlier diagnosis of DMD.
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Desenvolvimento Infantil/fisiologia , Atividade Motora/fisiologia , Distrofia Muscular de Duchenne/fisiopatologia , Estudos de Casos e Controles , Pré-Escolar , Humanos , Lactente , MasculinoRESUMO
Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largely increases the chances of survival. As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is relevant for decision making. Lifetime costs and effects of newborn screening for SCID were compared to a situation without screening in the Netherlands in a decision analysis model. Model parameters were based on literature and expert opinions. Sensitivity analyses were performed. Due to earlier detection, the number of deaths due to SCID per 100,000 children was assessed to decrease from 0.57 to 0.23 and a number of 11.7 quality adjusted life-years (QALYs) gained was expected. Total yearly healthcare costs, including costs of screening, diagnostics, and treatment, were 390,800 higher in a situation with screening compared to a situation without screening, resulting in a cost-utility ratio of 33,400 per QALY gained.Conclusion: Newborn screening for SCID might be cost-effective. However, there is still a lot of uncertainty around the cost-effectiveness estimate. Pilot screening projects are warranted to obtain more accurate estimates for the European situation. What is Known: ⢠Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at a young age. ⢠As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is needed. What is New: ⢠Newborn screening for SCID is expected to reduce mortality from 0.57 to 0.23 per 100,000 children at additional healthcare costs of 390,800. The cost-utility ratio is 33,400 per QALY gained. ⢠Due to large uncertainty around cost-effectiveness estimates, pilot screening projects are warranted for Europe.
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Análise Custo-Benefício , Custos de Cuidados de Saúde/estatística & dados numéricos , Triagem Neonatal/economia , Imunodeficiência Combinada Severa/diagnóstico , Humanos , Recém-Nascido , Países Baixos , Anos de Vida Ajustados por Qualidade de Vida , Imunodeficiência Combinada Severa/economiaRESUMO
AIM: This study aimed to develop a concise tool with acceptable predictive properties to identify young children with specific language impairment (SLI). METHODS: In this nested case-control study children with SLI attending two special needs schools for severe speech and language difficulties in the Netherlands were matched by date of birth and sex with control children attending mainstream education. This study analysed the predictive validity for having SLI at a mean age of eight years and three months (range 4-11 years) using combinations of six language milestones that were registered at 24, 36 and 45 months and retrieved from the children's healthcare files in 2012. RESULTS: We included 253 pairs of children with and without SLI. During a single visit, combinations of two milestones at one age achieved a specificity of at least 97% and sensitivities ranged from 32% to 64%. However, the concise tool, which combined five milestones at three different ages - 24, 36 and 45 months - had a specificity of 96% (95% confidence interval 94-99%) and a sensitivity of 71% (95% confidence interval 66-77%). CONCLUSION: Combining milestones at different ages provided a concise tool that could help to detect children with SLI at a young age.
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Transtornos do Desenvolvimento da Linguagem/diagnóstico , Desenvolvimento da Linguagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Valor Preditivo dos TestesRESUMO
BACKGROUND: Delayed language development without an obvious cause is considered an isolated developmental disorder and is called specific language impairment (SLI). SLI is probably the most prevalent developmental disorder in childhood with a generally cited prevalence of 7%. This study aimed to investigate whether SLI is always an isolated disorder or if children with SLI also have delayed motor development. METHODS: We used data of an earlier study with a prospective nested case-control design in which developmental data were collected from child health care files. Cases were children (4-11 years) with diagnosed SLI. They were matched by sex and date of birth with control children attending mainstream education. Data of both groups on seven gross and six fine motor milestones which had been registered in the Dutch Developmental Instrument between the ages of 15-36 months were retrieved from child health care files. McNemar tests were performed to test for differences in reaching motor milestones at the age norm between the case and control group. RESULTS: Data from 253 children in each group were available. A significant difference was found between both groups in the proportion failing to reach three of the seven investigated gross motor milestones at the age norm (p < 0.05). The proportion of children not reaching the motor milestone at the age norm was significantly higher for five of the six fine motor milestones in children with SLI compared with control children (p < 0.05). CONCLUSIONS: More children with SLI are late in reaching motor milestones than children without SLI. This means that it is debatable whether SLI can be regarded as a "specific" impairment, which is not associated with other developmental problems. A broader developmental assessment is therefore indicated when diagnosing SLI.
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Deficiências do Desenvolvimento/epidemiologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos das Habilidades Motoras/fisiopatologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Desenvolvimento da Linguagem , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Masculino , Transtornos das Habilidades Motoras/epidemiologia , Transtornos das Habilidades Motoras/psicologia , Prevalência , Estudos ProspectivosRESUMO
AIM: This study established predictive properties of single language milestones for specific language impairment (SLI) after the age of four, as these had not previously been reported in the literature. METHODS: In this nested case-control study, children attending special needs schools for severe speech and language difficulties were matched with children attending mainstream schools. Data covering the ages of zero to four years were retrieved from well-child care clinics and the outcomes of 23 language milestones in the Dutch Developmental Instrument were analysed. The predictive properties were expressed as positive likelihood ratios, sensitivity and specificity. RESULTS: We included 253 pairs of children with and without SLI, aged from four to 11 years. The mean age was eight years and three months, and 77% were boys. From the age of 18 months, cases and controls differed significantly on all milestones (p < 0.01). After 24 months, the language milestones had positive likelihood ratios that ranging from 6 to 108. In general, language milestones had a high specificity (range 77-100%), but the sensitivity was relatively low (range 0-68%). CONCLUSION: Failure to meet language milestones from the age of 24 months was predictive of SLI, but the use of separate milestones had limited value due to low sensitivity.
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Transtornos do Desenvolvimento da Linguagem/diagnóstico , Desenvolvimento da Linguagem , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Masculino , Estudos ProspectivosRESUMO
OBJECTIVE: To gain insight into health and related costs associated with very preterm births, one needs accurate information about the prevalence of the disabling conditions, including neonatal hearing loss (NHL). STUDY DESIGN: We assessed the prevalence of NHL by week of gestation and categories of birth weight in very preterm neonates. Results of the 2-stage Automated Auditory Brainstem Response nationwide Newborn Hearing Screening Program in Dutch Neonatal Intensive Care Units and diagnostic examinations were centrally registered between October 1998 and December 2012 and included in this study. NHL was defined as impaired when the neonate conventional Auditory Brainstem Response level exceeded 35 dB near Hearing Level at diagnostic examination. Birth weight was stratified into <750 g, 750-999 g, 1000-1249 g, 1250-1499 g, and ≥ 1500 g, and by small for gestational age (SGA; <10th percentile) vs appropriate for gestational age. Logistic regression analyses and recursive partitioning were performed. RESULTS: In total, 18,564 very preterm neonates were eligible. The prevalence of NHL consistently increased with decreasing week of gestation (1.2%-7.5% from 31 to 24 weeks) and decreasing birth weight (1.4%-4.8% from ≥ 1500 g to <750 g, all P < .002). Most vulnerable to NHL were girls <28 weeks, boys <30 weeks, and SGA neonates. The SGA effect started at 27 weeks. CONCLUSIONS: Gestational age and birth weight quantify the risk of NHL. This information can be used at the individual level for parent counseling and at the population level for medical decision making.
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Peso ao Nascer , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Perda Auditiva/epidemiologia , Lactente Extremamente Prematuro , Doenças do Prematuro/epidemiologia , Feminino , Seguimentos , Idade Gestacional , Perda Auditiva/diagnóstico , Perda Auditiva/fisiopatologia , Humanos , Lactente , Mortalidade Infantil/tendências , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/fisiopatologia , Masculino , Países Baixos/epidemiologia , Prevalência , Prognóstico , Estudos RetrospectivosRESUMO
INTRODUCTION: We aimed to assess the number of "missed cases" in the detection of child abuse based on the Hague Protocol. This protocol considers 3 parental characteristics of ED adult patients to identify child abuse: (1) domestic violence, (2) intoxication, and (3) suicide attempt or auto-mutilation. METHODS: This study focuses on parents whose children should have been referred to the Reporting Centre for Child Abuse and Neglect (RCCAN) in the Hague, the Netherlands, according to the guidelines of the Hague Protocol. Data were collected from all referrals by the Medical Centre Haaglanden (Medisch Centrum Haaglanden) to the RCCAN in the Hague between July 1 and December 31, 2011. The hospital's database was searched to determine whether the parents had visited the emergency department in the 12 months before their child's referral to the RCCAN. RESULTS: Eight missed cases out of 120 cases were found. The reasons for not referring were as follows: forgetting to ask about children and assuming that it was not necessary to refer children if parents indicated that they were already receiving some form of family support. DISCUSSION: Barriers to identifying missing cases could be relatively easy to overcome. Regular training of emergency nurses and an automated alert in the electronic health record to prompt clinicians and emergency nurses may help prevent cases being missed in the future.
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Maus-Tratos Infantis/diagnóstico , Erros de Diagnóstico/estatística & dados numéricos , Serviço Hospitalar de Emergência , Notificação de Abuso , Pais/psicologia , Criança , Maus-Tratos Infantis/estatística & dados numéricos , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais , Feminino , Humanos , Lactente , Masculino , Avaliação das Necessidades , Países Baixos , Relações Pais-Filho , Fatores de RiscoRESUMO
Because maternal seropositivity for CMV is associated with substantial protection against congenital CMV infection, prevention measures have focused mainly on seronegative pregnant women for decades. However, population-wide insight in the contribution of nonprimary infection (reactivation and/or re-infection with a different strain) on the most common sequela, hearing loss, is missing. A population-based prediction model was developed to estimate the proportion of congenital CMV-related hearing loss resulting from nonprimary maternal infection. Incorporated was a meta-analysis of the risk of hearing loss, calculating pooled proportions of children with hearing loss after nonprimary and primary infection. Subsequently, the model was applied for worldwide present population seroprevalences (range 30-95%). It was estimated that, for all population seroprevalences, nonprimary maternal infections are responsible for the majority of congenital CMV infections. This proportion increased with seroprevalence, ranging from 57% (95%CI 24-85%) to 96% (95% CI 88-99%) for seroprevalences of 30% to 95%. Our meta-analysis (six reports) showed that the risk of hearing loss after nonprimary infection was 11% (28/253 children, 95% CI 7-15%) versus 13% (50/385 children, 95% CI 10-16%) after primary infection. Incorporating this risk into our model, we estimated that nonprimary infections also accounted for the majority of CMV-related hearing loss. This proportion ranged from 53% (95% CI 13-86%) to 95% (95% CI 62-99%) for seroprevalences of 30% to 95%. Our data underline the worldwide contribution of nonprimary infections in causing CMV-related hearing loss. These results imply that prevention research such as vaccine and hygiene studies should not only be directed at seronegative but also seropositive pregnant women.
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Anticorpos Antivirais/sangue , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/transmissão , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Citomegalovirus/imunologia , Citomegalovirus/patogenicidade , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/epidemiologia , Feminino , Humanos , Modelos Estatísticos , Gravidez , Medição de Risco , Latência ViralRESUMO
To investigate at what age hydrocephalus is detected and to assess the role of head circumference measurements in detecting hydrocephalus, we performed a retrospective chart review in children with hydrocephalus treated in a tertiary paediatric hospital in the Netherlands. The study group contained 146 patients; 38 patients (31%) were referred because of abnormalities in head circumference. Eighty-nine per cent of the patients were detected in the first year of life. After this period, no patients were referred because of an abnormal head circumference. Therefore, head circumference measurements seem to have little value for detecting hydrocephalus after the first year of life.
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Cefalometria , Hidrocefalia/diagnóstico , Fatores Etários , Pré-Escolar , Feminino , Cabeça/anatomia & histologia , Cabeça/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: In patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4-5 years of age. It is important to diagnose DMD during infancy or toddler stage in order to have timely access to treatment, opportunities for reproductive options, prevention of potential fatal reactions to inhaled anesthetics, awareness of a child's abilities needed for good parenting, and opportunities for enrolment in clinical trials. METHOD: We aimed to develop a short risk assessment tool based on developmental milestones that may contribute to the early detection of boys with DMD in primary care. As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with DMD), data on developmental milestones, symptoms and therapies for 76 boys with DMD and 12,414 boys from a control group were extracted from the health records of youth health care services and questionnaires. Multiple imputation, diagnostic validity and pooled backward logistic regression analyses with DMD (yes/no) as the dependent variable and attainment of 26 milestones until 36 months of age (yes/no) as the independent variable were performed. Descriptive statistics on symptoms and therapies were provided. RESULTS: A tool with seven milestones assessed at specific ages between 12 and 36 months resulted in a sensitivity of 79% (95CI:67-88%), a specificity of 95.8% (95%CI:95.3-96.2), and a positive predictive value of 1:268 boys. Boys with DMD often had symptoms (e.g. 43% had calf muscle pseudohypertrophy) and were referred to therapy (e.g. 59% for physical therapy) before diagnosis. DISCUSSION: This tool followed by the examination of other DMD-related symptoms could be used by youth health care professionals during day-to-day health assessments in the general population to flag children who require further action. CONCLUSIONS: The majority of boys (79%) with DMD can be identified between 12 and 36 months of age with this tool. It increases the initial a priori risk of DMD from 1 in 5,000 to approximately 1 in 268 boys. We expect that other neuromuscular disorders and disabilities can also be found with this tool.
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Distrofia Muscular de Duchenne , Atenção Primária à Saúde , Distrofia Muscular de Duchenne/diagnóstico , Humanos , Masculino , Pré-Escolar , Medição de Risco , Lactente , Estudos de Casos e ControlesRESUMO
OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental questionnaire. Problem behavior was measured using the Child Behavior Checklist and compared with normative data. The degree of intellectual disability was determined using the Dutch Social competence rating scale. RESULTS: The response rate was 62.8% (322/513), and the mean age 18.3 years (SD ± 0.8). The total score for problem behavior was higher in adolescents with Down syndrome than in adolescents without Down syndrome (26.8 vs 16.5; P < .001). Overall, 51% of adolescents with Down syndrome had problem scores in the clinical or borderline range on 1 or more Child Behavior Checklist subscales; this is more than twice as high as adolescents without Down syndrome. Adolescents with Down syndrome had more internalizing problems than their counterparts without Down syndrome (14% and 9%, respectively, in the clinical range); the percentages for externalizing problems were almost equal (7% and 9%, respectively, in the clinical range). The highest problem scores in adolescents with Down syndrome were observed on the social problems and thought problems subscales (large to very large standardized differences). Male sex and/or more severe mental disabilities were associated with more behavioral problems. CONCLUSIONS: Serious problem behavior is more prevalent in adolescents with Down syndrome. This demonstrates the need for a focus on general behavior improvement and on the detection and treatment of specific psychopathology in individuals with Down syndrome.
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Comportamento do Adolescente , Transtornos do Comportamento Infantil/etiologia , Síndrome de Down/fisiopatologia , Adolescente , Transtornos do Comportamento Infantil/diagnóstico , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Países Baixos , Análise de Regressão , Comportamento Social , Adulto JovemRESUMO
OBJECTIVE: Birth weight (BW) discordant twins have an increased risk of mortality and morbidity. We aimed to study the effect of BW discordance on the risk of neonatal hearing loss (NHL) in very and extremely preterm twins. STUDY DESIGN: Results of the nationwide newborn hearing screening program in Dutch Neonatal Intensive Care Units and diagnostic examination were centrally registered between 2003 and 2021 and included in this study. We selected twins and singletons with a gestational age (GA) 24- < 32 weeks. Logistic regression analyses were applied to study the effect of BW discordance on the risk of NHL adjusted for BW, GA and sex. Singletons and concordant twins, defined as a BW discordance of ≤20 %, were used as two reference groups. BW discordance was further categorized as medium (>20-30 %) and high (>30 %). RESULTS: In total, 3430 twins (2694 concordant, 428 medium and 308 high BW discordant), and 23,114 singletons were available. Smaller newborns of high BW discordant twins showed an increased risk of NHL compared to singletons (adjusted odds ratio with 95 % confidence interval was 3.56 (2.26-5.60)). Also, smaller newborns of medium and high BW discordant twins showed an increased risk of NHL compared to concordant twins (adjusted odds ratio with 95 % confidence interval were 1.97 (1.13-3.44) and 4.17 (2.56-6.82), respectively). No other statistically significant differences were found. CONCLUSION: BW discordance increased the risk of NHL in the smaller of the twin born very or extremely preterm. This risk increased as the weight difference increased.
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Perda Auditiva , Doenças do Recém-Nascido , Recém-Nascido , Humanos , Lactente , Peso ao Nascer , Lactente Extremamente Prematuro , Mortalidade Infantil , Estudos Retrospectivos , Idade Gestacional , Perda Auditiva/epidemiologiaRESUMO
UNLABELLED: In phenylketonuria, knowledge about the relation between behavior and plasma phenylalanine is scarce. The aim of this study was to determine whether high phenylalanine is associated with disturbed behavior noticed by the patient and or close environment (parents or partners). 48 early treated PKU patients (median age 8.5, range 0-35 years) participated (median phenylalanine concentration in total sample 277 (range 89-1171) µmol/l; and in patients <12 years 238 (range 89-521) µmol/l). After sending blood samples, patients or close environment were interviewed with a standardized questionnaire whether they noticed hyperactivity, annoying behavior, mood swings and introvert or extravert behavior. The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration. RESULTS: Patients reported less deviant behavior compared to close environment. Mood swings were positively associated with phenylalanine concentrations in the total group (P=0.039) and patients <12 years (P=0.042). The relationships between temporary high phenylalanine concentrations and hyperactivity, annoying behavior, introvert and extravert behavior were not statistically significant. CONCLUSION: there is a positive association between phenylalanine concentrations and mood swings.
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Transtornos do Humor/etiologia , Fenilalanina/sangue , Fenilcetonúrias/sangue , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Funções Verossimilhança , Transtornos do Humor/sangue , Inquéritos e QuestionáriosRESUMO
Congenital cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The sequela encountered most frequently is hearing impairment, affecting approximately one out of five infants congenitally infected. Data on the birth prevalence and risk factors of congenital CMV infection in the Netherlands are scarce. The aim of this study was to determine the birth prevalence of congenital CMV in the Netherlands. A sample of 6,500 dried blood spots (DBS) from infants born in the Netherlands was tested anonymously for CMV DNA. The sample was stratified by the number of live births in different regions of the Netherlands of the year 2007. Additionally, on a regional level, risk factors for congenital CMV were analyzed. The birth prevalence of congenital CMV in the Netherlands was 0.54% (35/6,433, 95%CI 0.36-0.72). Congenital CMV infection was significantly higher in regions with more than 15% young children (0-5 years) compared with regions with a lower proportion of young children (OR 5.9, 95%CI 1.4-25.2). Congenital CMV infection was significantly higher in regions with more than 30% immigrants compared with regions with a lower proportion of immigrants (OR 2.2, 95%CI 1.1-4.6). This association was strongest for regions with more than 30% non-Western immigrants (OR 3.3, 95%CI 1.5-7.5). Based on the knowledge of the natural history of congenital CMV infection, approximately 1,000 children are born with congenital CMV infection in the Netherlands annually, of whom eventually approximately 180 children (0.1% of all newborns) will be affected by long term sequelae, with hearing loss being the symptom encountered most frequently.
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Infecções por Citomegalovirus/congênito , Citomegalovirus/isolamento & purificação , Coeficiente de Natalidade , Citomegalovirus/genética , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Países Baixos/epidemiologia , Prevalência , Fatores de RiscoRESUMO
CONTEXT: Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone deficiencies (MPHD), but in some cases central CH is isolated. Most pituitary hormone deficiencies are associated with impaired health-related quality of life (HRQoL). However, studies on HRQoL in central CH are lacking. OBJECTIVE: To evaluate HRQoL and fatigue in children and young adults with central CH, as well as parent perspectives. DESIGN: Nationwide cross-sectional study comparing HRQoL between early-detected central CH patients and unaffected siblings with the Pediatric Quality of Life inventory (PedsQL™) and PedsQL Multidimensional Fatigue Scale. Participants ≥ 8 years old filled in self-reports; parents of participants aged 3 to 18 years filled in parent reports. Isolated central CH patients, MPHD patients, and siblings were compared using a linear mixed model and Tukey's post hoc test. RESULTS: Eighty-eight patients and 52 siblings participated, yielding 98 self-reports and 115 parent reports. Isolated central CH patients (nâ =â 35) and siblings showed similar scores on all subscales, both in the self-reports and parent reports. For MPHD patients (nâ =â 53), self-reported scores were similar to those of siblings. Parent reported total HRQoL and fatigue scores were significantly poorer in MPHD patients compared with siblings (mean differences -10.2 and -9.4 points; Pâ <â 0.01), as were scores for physical functioning, social functioning and general fatigue. CONCLUSION: Self-reported HRQoL scores in isolated central CH and MPHD patients were similar to siblings. However, parents reported significantly lower HRQoL and fatigue scores for MPHD patients, suggesting a difference in perceived limitations between MPHD patients and their parents.
Assuntos
Hipotireoidismo Congênito/psicologia , Fadiga/psicologia , Hipopituitarismo/psicologia , Qualidade de Vida , Irmãos/psicologia , Adolescente , Criança , Pré-Escolar , Hipotireoidismo Congênito/diagnóstico , Estudos Transversais , Diagnóstico Precoce , Fadiga/congênito , Feminino , Humanos , Hipopituitarismo/congênito , Hipopituitarismo/diagnóstico , Masculino , Pais/psicologia , AutorrelatoRESUMO
Air pollution, noise, and green space are important environmental exposures, having been linked to a variety of specific health outcomes. However, there are few studies addressing overall early life development. To assess their effects, associations between developmental milestones for a large population of 0-4-year old children in The Netherlands and environmental exposures were explored. Developmental milestones and background characteristics were provided by Preventive Child Health Care (PCHC) and supplemented with data from Statistics Netherlands. Milestones were summarized and standardized into an aggregate score measuring global development. Four age groups were selected. Environmental exposures were assigned to geocoded addresses using publicly available maps for PM2.5, PM10, PMcoarse, NO2, EC, road traffic noise, and green space. Associations were investigated using single and multiple-exposure logistic regression models. 43,916 PCHC visits by 29,524 children were available. No consistent associations were found for air pollution and road traffic noise. Green space was positively associated in single and multiple-exposure models although it was not significant in all age groups (OR 1.01 (0.95; 1.08) (1 year) to 1.07 (1.01; 1.14) (2 years)). No consistent associations were found between air pollution, road traffic noise, and global child development. A positive association of green space was indicated.
Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Criança , Pré-Escolar , Exposição Ambiental , Humanos , Lactente , Recém-Nascido , Países Baixos , Material Particulado/análiseRESUMO
CONTEXT: Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on central CH are scarce. Most patients with central CH have multiple pituitary hormone deficiencies (MPHD); these patients are also at risk for neonatal hypoglycemia. OBJECTIVE: To assess cognitive and motor outcome in patients with early-treated central CH detected by the Dutch neonatal screening. METHODS: In this cross-sectional study, primary outcome full-scale intelligence quotient (FSIQ) was measured in patients with MPHD and patients with isolated central CH born between January 1, 1995, and January 1, 2015, with siblings as controls. Secondary outcomes were intelligence test subscales and motor function. Linear mixed models were used to compare both patient groups and siblings, followed by post hoc tests in case of significant differences. RESULTS: Eighty-seven patients (52 MPHD; 35 isolated central CH) and 52 siblings were included. Estimated marginal means for FSIQ were 90.7 (95% CI 86.4-95.0) in patients with MPHD and 98.2 (95% CI 93.0-103.5) in patients with isolated central CH. While patients with MPHD scored lower FSIQs than siblings (mean difference -7.9 points, 95% CI -13.4 to -2.5; Pâ =â .002), patients with isolated central CH did not. Processing speed was lower in both patient groups than in siblings (mean differences -10.5 and -10.3 points). Motor difficulties occurred significantly more often in patients (33%) versus siblings (5%; Pâ =â .004). CONCLUSION: In early-treated central CH, FSIQ is comparable with siblings in patients with isolated central CH, while patients with MPHD have a significantly lower FSIQ. This may be explained by disease-specific consequences of MPHD, such as neonatal hypoglycemia and more severe hypothyroidism.