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BACKGROUND: Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). METHODS: We performed a population-based surveillance study to determine the prevalence of structural congenital anomalies in the ABC islands, including all live births and stillbirths between January 1, 2008 and December 31, 2017 with major congenital anomalies according to EUROCAT guide 1.5. Terminations of pregnancy for fetal anomaly were included as well. Cases were identified by active case ascertainment, using multiple sources including pediatric patient files and discharge letters, delivery records, and clinical genetic patient files. Total and subgroup prevalence rates were compared between the three islands and to the French West Indies and Northern Netherlands. RESULTS: Total prevalence of congenital anomalies on the ABC islands was 242.97 per 10,000 births. Total prevalence of congenital anomalies in Bonaire (325.15 per 10,000 births) was higher compared to Aruba (233.29 per 10,000 births) and Curaçao (238.58 per 10,000 births), which was mainly attributable to a higher prevalence of limb anomalies, in particular polydactyly, in Bonaire. Total prevalence of congenital anomalies on the ABC islands was comparable to the French West Indies (248.69 per 10,000 births) but significantly lower compared to the Northern Netherlands (298.98 per 10,000 births). In the subgroup prevalence analysis, the prevalence of polydactyly and atrial septal defect on the ABC islands was significantly higher compared with the French West Indies and the Northern Netherlands, while the prevalence of congenital anomalies of the kidney and urinary tract and genetic disorders was significantly lower. CONCLUSIONS: This is the first study to establish the prevalence and pattern of congenital anomalies on the ABC islands, which is important to inform healthcare managers and policymakers and to provide a basis for continuous surveillance of congenital anomalies.
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Polidactilia , Embarazo , Femenino , Humanos , Niño , Aruba , Curazao , Prevalencia , Caribe Neerlandés , Indias Occidentales/epidemiologíaRESUMEN
Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagnostic testing and the clinical utility of a diagnosis for patients with rare diseases on these relatively isolated, resource-limited islands. A total of 331 patients that were referred to the clinical geneticist between November 2011 and November 2019 and had genetic testing were included in this study. A total of 508 genetic tests were performed on these patients. Microarray, next-generation sequencing gene panels, and single-gene analyses were the most frequently performed genetic tests. A molecularly confirmed diagnosis was established in 33% of patients (n = 108). Most diagnosed patients had single nucleotide variants or small insertions and/or deletions (48%) or copy number variants (34%). Molecular diagnostic yield was highest in patients referred for seizures and developmental delay/intellectual disability. The genetic diagnosis had an impact on clinical management in 52% of patients. Referrals to other health professionals and changes in therapy were the most frequently reported clinical consequences. In conclusion, despite limited financial resources, our genetics service resulted in a reasonably high molecular diagnostic yield. Even in this resource-limited setting, a genetic diagnosis had an impact on clinical management for the majority of patients. Our approach with a visiting clinical geneticist may be an example for others who are developing genetic services in similar settings.
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Variaciones en el Número de Copia de ADN , Discapacidad Intelectual , Región del Caribe/epidemiología , Niño , Pruebas Genéticas/métodos , Humanos , Discapacidad Intelectual/genética , Estudios RetrospectivosRESUMEN
Research on the perspectives of patients and parents regarding genetic testing and its implications has been performed mostly in Europe, Canada, the United States, Australia and New Zealand, even though genetic testing is becoming increasingly available worldwide. We aimed to fill this knowledge gap by exploring the experiences and needs of parents in the Dutch Caribbean who received a genetic diagnosis for the rare disease of their child. We conducted 23 semi-structured interviews with 30 parents of children diagnosed with various rare genetic diseases in Aruba, Bonaire and Curaçao (ABC-islands). Two researchers independently analyzed the interviews using a thematic approach. Main themes identified were: (1) getting a genetic diagnosis, (2) coping, support and perceived social stigma, (3) living on a small island, and (4) needs regarding genetic services. Our results indicate that, despite reported limitations regarding the availability of healthcare and support services, receiving a genetic diagnosis for their child was valuable for most participants. While some of the participants' experiences with and attitudes towards the genetic diagnosis of their child were similar to those reported in previous studies, we identified a number of aspects that are more specifically related to this Dutch Caribbean setting. These include coping through faith and religion, social stigma and being the only one on the island with a specific genetic disorder. The results of this study and the provided recommendations may be useful when developing genetic testing and counseling services in similar settings.
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Padres , Enfermedades Raras , Adaptación Psicológica , Niño , Familia , Humanos , Padres/psicología , Investigación Cualitativa , Enfermedades Raras/diagnóstico , Enfermedades Raras/genéticaRESUMEN
The Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Curaçao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, including limited access to genetics services. In this article, we provide an overview of the clinical and community genetics services that are available in the Dutch Caribbean. In particular, we describe our joint pediatric-genetics clinic with a visiting clinical geneticist that was established in 2011 to provide clinical genetics services for the pediatric population of the Dutch Caribbean.
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BACKGROUND: Perinatally chikungunya infected neonates have been reported to have high rates of post-infection neurologic sequelae, mainly cognitive problems. In older children and adults chikungunya does not appear to have sequelae, but data on postnatally infected infants are lacking. METHODS: We performed a prospective, non-controlled, observational study of infants infected before the age of 6 months with a severe chikungunya infection during the 2014-2015 epidemic in Curaçao, Dutch Antilles. Two years post-infection cognitive and motor - (BSID-III) and social emotional assessments (ITSEA) were performed. RESULTS: Of twenty-two infected infants, two died and two were lost to follow up. Eighteen children were seen at follow-up and included in the current study. Of these, 13 (72%) had abnormal scores on the BSID-III (cognitive/motor) or ITSEA. CONCLUSION: In the first study aimed at postnatally infected infants, using an uncontrolled design, we observed a very high percentage of developmental problems. Further studies are needed to assess causality, however until these data are available preventive measure during outbreaks should also include young infants. Those that have been infected in early infancy should receive follow up.
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Fiebre Chikungunya/patología , Enfermedades del Sistema Nervioso/diagnóstico , Fiebre Chikungunya/complicaciones , Fiebre Chikungunya/epidemiología , Desarrollo Infantil , Brotes de Enfermedades , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades del Sistema Nervioso/etiología , Países Bajos/epidemiología , Estudios ProspectivosRESUMEN
CONTEXT: The effect of neonatal cerebellar hemorrhage on neurodevelopmental outcome (NDO) in the absence of supratentorial injury is still largely unknown. OBJECTIVE: To evaluate the influence of isolated neonatal cerebellar hemorrhage on cognitive, motor, language, and behavioral NDOs and assess the effect of location and size on outcome. DATA SOURCES: Embase, Medline, and Scopus were searched from inception to September 30, 2017. STUDY SELECTION: Studies in which a diagnosis of isolated cerebellar hemorrhage was reported in preterm infants (<32 weeks' gestation) with a standardized NDO at ≥12 months of age were included. DATA EXTRACTION: Patient characteristics, location, and size of bleeding and NDO (defined as severe [yes or no] on the basis of given cutoff points) in 4 domains were extracted. RESULTS: Of the 1519 studies identified, 8 were included in final analyses. Of infants with isolated cerebellar hemorrhage, 128 were described (cumulative incidence: 2.3%). The incidence of severe delay in cognition, motor, language, and behavioral development was 38%, 39%, 41%, and 38%, respectively. The overall incidence of severe neurodevelopmental delay in ≥1 domain ranged from 43% to 75% and was most seen in infants with vermis involvement (87%-93%) and with large bleeds (46%-82%). LIMITATIONS: Different neurodevelopmental scales lead to data heterogeneity, and reporting of data on a group level limited possibilities for an outcome description on an individual level. CONCLUSIONS: Of infants with isolated cerebellar hemorrhage, 43% to 75% were severely delayed in cognition, motor, language, and/or behavioral development, with the highest incidence with vermis involvement and with large bleeds.
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Hemorragia Cerebral/complicaciones , Discapacidades del Desarrollo/etiología , Enfermedades del Prematuro/etiología , Discapacidades del Desarrollo/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Recien Nacido PrematuroRESUMEN
In this study, the influence of prematurity on echogenicity of deep gray matter at 30-wk corrected age was assessed using ultrasound measurements. In an observational cohort study, ultrasound scans of 224 extremely preterm infants were prospectively collected. Gray values were assessed in putamen and globus pallidus. Intra- and inter-observer reliability was analyzed and showed excellent agreement. The globus pallidus to putamen ratio was significantly related to gestational age at birth, adjusted regression coefficient in points per wk: 1.28 (95% confidence interval [CI]: 0.38-2.19) for left and 2.12 (95% CI: 1.23-3.02) for right-side images. At 30-wk corrected age this was still the case, adjusted regression coefficient: 0.45 (95% CI: -0.57 to 1.47) for left and 1.29 (95% CI: 0.10-2.48) for right. The putamen is more hyperechoic with lower gestational age. Measuring ultrasound gray values in deep gray matter seems highly reproducible. Prematurity shows a negative correlation with echogenicity of the putamen, this persists at 30-wk corrected age, suggesting altered maturation.
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Ganglios Basales/diagnóstico por imagen , Nacimiento Prematuro , Ultrasonografía/métodos , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Estudios Longitudinales , Masculino , Variaciones Dependientes del Observador , Estudios Prospectivos , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: The cerebellum is essential for normal neurodevelopment and is particularly susceptible for intra-uterine disruptions. Although some causal prenatal exposures have been identified, the origin of neurodevelopmental disorders remains mostly unclear. Therefore, a systematic literature search was conducted to provide an overview of parental environmental exposures and intrinsic factors influencing prenatal cerebellar growth and development in humans. MATERIALS AND METHODS: The literature search was limited to human studies in the English language and was conducted in Embase, Medline, Cochrane, Web of Science, Pubmed and GoogleScholar. Eligible studies were selected by three independent reviewers and study quality was scored by two independent reviewers. RESULTS: The search yielded 3872 articles. We found 15 eligible studies reporting associations between cerebellar development and maternal smoking (4), use of alcohol (3), in vitro fertilization mediums (1), mercury (1), mifepristone (2), aminopropionitriles (1), ethnicity (2) and cortisol levels (1). No studies reported on paternal factors. CONCLUSIONS: Current literature on associations between parental environmental exposures, intrinsic factors and human cerebellar development is scarce. Yet, this systematic review provided an essential overview of human studies demonstrating the vulnerability of the cerebellum to the intra-uterine environment.
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Cerebelo/embriología , Exposición Materna/efectos adversos , Lesiones Prenatales , Femenino , Humanos , EmbarazoRESUMEN
BACKGROUND: Little is known about cerebral artery resistive index values in infants born extremely preterm. OBJECTIVE: To report resistive index values in various cerebral arteries in a prospective cohort of preterm infants born at <29 weeks' gestation, and to compare resistive index in these arteries and assess the relationship between resistive index and hemodynamically significant patent ductus arteriosus. MATERIALS AND METHODS: Using Doppler imaging, we obtained resistive index values of internal carotid arteries, basilar artery, anterior cerebral artery, and pial and striatal arteries in the first 3 days of age and weekly thereafter until discharge or death. We analyzed paired observations using the Wilcoxon signed-rank test, between-group comparisons with the Mann-Whitney test. RESULTS: We performed 771 examinations in 235 infants. Resistive indices differed among arteries: vessels with larger diameters showed significantly higher resistive indices. Resistive index in infants without patent ductus arteriosus was lower than that in infants with hemodynamically significant patent ductus arteriosus (median in anterior cerebral artery: 0.75 and 0.82, respectively; P<0.001), though this was not statistically significant in all arteries. There was no difference in pre- and post-ligation resistive indices in infants who underwent patent ductus arteriosus ligation. CONCLUSION: For accurate follow-up and comparison of cerebral artery resistive index, the same artery should be examined on each occasion.
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Arterias Cerebrales/diagnóstico por imagen , Arterias Cerebrales/fisiopatología , Conducto Arterioso Permeable/diagnóstico por imagen , Conducto Arterioso Permeable/fisiopatología , Ultrasonografía Doppler Dúplex , Resistencia Vascular/fisiología , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Unidades de Cuidado Intensivo Neonatal , Masculino , Estudios ProspectivosRESUMEN
AIM: To assess outcome after neonatal perforator stroke in the largest cohort to date. METHOD: Survivors from a cohort of children diagnosed with neonatal perforator stroke using cranial ultrasound or magnetic resonance imaging were eligible for inclusion. Recovery and Recurrence Questionnaire score, presence of cerebral palsy (CP), and crude outcome were assessed, specifically (1) the ability to walk independently, (2) participation in regular education, and (3) the presence of epilepsy. RESULTS: Thirty-seven patients (20 males, 17 females) aged 3 to 14 years (mean age 8y) were included in the study: 14 with isolated single perforator stroke, four with multiple isolated perforator strokes, and 19 with additional brain injury. Out of 18 children with isolated perforator stroke(s), four had CP, one could not walk independently, and one developed epilepsy. The posterior limb of the internal capsule was involved in four out of 18 patients; three of these patients had CP. Of 19 children with additional brain injury, 11 had CP and three were not able to walk independently. Three out of nine children with concomitant cortical middle cerebral artery stroke developed epilepsy. INTERPRETATION: Perforator stroke patterns can be of use in predicting long-term outcome and for guiding counselling and surveillance. Motor outcome was favourable in children with isolated perforator stroke(s), except when the posterior limb of the internal capsule was involved.
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Parálisis Cerebral/etiología , Epilepsia/etiología , Enfermedades del Recién Nacido , Limitación de la Movilidad , Evaluación de Resultado en la Atención de Salud , Accidente Cerebrovascular/complicaciones , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Infarto de la Arteria Cerebral Media/complicaciones , MasculinoRESUMEN
Cranial ultrasound (CUS) is a reputable tool for brain imaging in critically ill neonates. It is safe, relatively cheap and easy to use, even when a patient is unstable. In addition it is radiation-free and allows serial imaging. CUS possibilities have steadily expanded. However, in many neonatal intensive care units, these possibilities are not optimally used. We present a comprehensive approach for neonatal CUS, focusing on optimal settings, different probes, multiple acoustic windows and Doppler techniques. This approach is suited for both routine clinical practice and research purposes. In a live demonstration, we show how this technique is performed in the neonatal intensive care unit. Using optimal settings and probes allows for better imaging quality and improves the diagnostic value of CUS in experienced hands. Traditionally, images are obtained through the anterior fontanel. Use of supplemental acoustic windows (lambdoid, mastoid, and lateral fontanels) improves detection of brain injury. Adding Doppler studies allows screening of patency of large intracranial arteries and veins. Flow velocities and indices can be obtained. Doppler CUS offers the possibility of detecting cerebral sinovenous thrombosis at an early stage, creating a window for therapeutic intervention prior to thrombosis-induced tissue damage. Equipment, data storage and safety aspects are also addressed.
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Encéfalo/anatomía & histología , Ecoencefalografía/métodos , Encéfalo/irrigación sanguínea , Encefalopatías/diagnóstico por imagen , Ecoencefalografía/instrumentación , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Ultrasonografía Doppler Transcraneal/instrumentación , Ultrasonografía Doppler Transcraneal/métodosRESUMEN
OBJECTIVE: To investigate detection ability and feasibility of serial cranial ultrasonography (CUS) and early MRI in preterm brain injury. DESIGN: Prospective cohort study. SETTING: Level III neonatal intensive care unit. PATIENTS: 307 infants, born below 29â weeks of gestation. METHODS: Serial CUS and MRI were performed according to standard clinical protocol. In case of instability, MRI was postponed or cancelled. Brain images were assessed by independent experts and compared between modalities. MAIN OUTCOME MEASURES: Presence of preterm brain injury on either CUS or MRI and discrepant imaging findings on CUS and MRI. RESULTS: Serial CUS was performed in all infants; early MRI was often postponed (n=59) or cancelled (n=126). Injury was found in 146 infants (47.6%). Clinical characteristics differed significantly between groups that were subdivided according to timing of MRI. 61 discrepant imaging findings were found. MRI was superior in identifying cerebellar haemorrhage; CUS in detection of acute intraventricular haemorrhage, perforator stroke and cerebral sinovenous thrombosis. CONCLUSIONS: Advanced serial CUS seems highly effective in diagnosing preterm brain injury, but may miss cerebellar abnormalities. Although MRI does identify these lesions, feasibility is limited. Improved safety, better availability and tailored procedures are essential for MRI to increase its value in clinical care.
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Lesiones Encefálicas , Hemorragia Cerebral , Errores Diagnósticos/prevención & control , Encéfalo/patología , Lesiones Encefálicas/diagnóstico , Lesiones Encefálicas/etiología , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/etiología , Estudios de Cohortes , Ecoencefalografía/métodos , Estudios de Factibilidad , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/diagnóstico , Imagen por Resonancia Magnética/métodos , Masculino , Países Bajos , Estudios Prospectivos , Mejoramiento de la Calidad , Reproducibilidad de los ResultadosRESUMEN
INTRODUCTION: Preterm infants are born during critical stages of brain development, in which the adaptive capacity of the fetus to extra-uterine environment is limited. Inadequate brain perfusion has been directly linked to preterm brain damage. Advanced high-frequency ultrasound probes and processing algorithms allow visualization of microvessels and depiction of regional variation. To assess whether visualization and flow velocity estimates of preterm cerebral perfusion using Doppler techniques are accurate, we conducted an in vitro experiment using a microvessel flow phantom. MATERIALS AND METHODS: An in-house developed flow phantom containing two microvessels (inner diameter 200 and 700 µm) with attached syringe pumps, filled with blood-mimicking fluid, was used to generate non-pulsatile perfusion of variable flow. Measurements were performed using an Esaote MyLab70 scanner. RESULTS: Microvessel mimicking catheters with velocities as low as 1 cm/s were adequately visualized with a linear ultrasound probe. With a convex probe, velocities <2 cm/s could not be depicted. Within settings, velocity and diameter measurements were highly reproducible [intra-class correlation 0.997 (95% CI 0.996-0.998) and 0.914 (0.864-0.946)]. Overall, mean velocity was overestimated up to threefold, especially in high velocity ranges. Significant differences were seen in velocity measurements when using steer angle correction and in vessel diameter estimation (p < 0.05). CONCLUSION: Visualization of microvessel-size catheters mimicking small brain vessels is feasible. Reproducible velocity and diameter results can be obtained, although important overestimation of the values is observed. Before velocity estimates of microcirculation can find its use in clinical practice, calibration of the ultrasound machine for any specific Doppler purpose is essential. The ultimate goal is to develop a sonographic tool that can be used for objective study of regional perfusion in routine practice.
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BACKGROUND AND PURPOSE: To date, studies on neonatal stroke have mainly focused on cortical stroke. We have focused on perforator strokes, noncortical strokes in the arterial vascular perforator area. We sought to identify risk factors and evaluate clinical presentation and neuroimaging findings for neonatal perforator stroke, which seems to be under-recognized. METHODS: All infants admitted to our tertiary intensive care unit in ≈12 years, whose perforator stroke was diagnosed with postnatal brain imaging, were enrolled in this study. Demographic, perinatal, and postnatal data were evaluated. RESULTS: Seventy-nine perforator strokes were detected in 55 patients (28 boys), with a median gestational age of 37 1/7 weeks (range 24 1/7 to 42 1/7 weeks, 25 preterm). Perforator stroke was asymptomatic in most patients (58%). Initial diagnosis was predominantly made with cranial ultrasound (80%) in the first week of life (60%). Risk factors for stroke were present in all cases: maternal, fetal, and perinatal. Likely pathogenic mechanisms were prolonged birth asphyxia (16%), hypoxia or hypotension (15%), embolism (15%), infection (15%), acute blood loss (9%), and birth trauma (9%). CONCLUSIONS: Previously described risk factors for developing neonatal main artery stroke are probably also associated with neonatal perforator stroke. Perforator stroke is often asymptomatic, but cranial ultrasound is a reliable diagnostic tool in diagnosing perforator stroke.
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Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/etiología , Estudios de Cohortes , Femenino , Edad Gestacional , Humanos , Recién Nacido , Enfermedades del Recién Nacido , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/diagnóstico por imagen , Enfermedades del Prematuro/etiología , Unidades de Cuidado Intensivo Neonatal , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico por imagen , UltrasonografíaRESUMEN
The objective of this study was to evaluate clinical symptoms and findings on cranial ultrasound (CUS) in preterm infants with cerebellar haemorrhage through retrospective analysis of all preterm infants with a postnatal CUS or MRI diagnosis of cerebellar haemorrhage admitted in a tertiary care centre between January 2002 and June 2009. Fifteen infants were identified; median gestational age was 25 2/7 weeks and median birth weight 730 g. We discerned six types of haemorrhage: subarachnoid (n = 3), folial (n = 1), lobar (n = 9, of which 4 bilateral), giant lobar (n = 1, including vermis) and contusional (n = 1). Especially in infants with lobar cerebellar haemorrhage, CUS showed preceding or concurrent lateral ventricle dilatation, mostly without intraventricular haemorrhage (IVH). Thirteen infants suffered from notable, otherwise unexplained motor agitation in the days preceding the diagnosis. In conclusion, motor agitation may be a presenting symptom of cerebellar haemorrhage in preterm infants. Unexplained ventriculomegaly can be a first sign of cerebellar haemorrhage and should instigate sonographic exploration of the cerebellum.