proportionate microcephaly

Primer on Data Quality in Birth Defects Surveillance, 7.1 Why data quality matters; A surveillance scenario, 7.4 General good data strategies and practices, 7.5 Key Characteristics of Data Quality in Public Health Surveillance, 7.6 Quality Data come from Quality Processes, 7.8 Quality and waste in surveillance, Congenital Anomalies of the Nervous System, Congenital Anomalies of the Nervous System: Microcephaly, Congenital Anomalies of the Ear: Microtia/Anotia, Congenital Anomalies of the Digestive System, Oesophageal Atresia/Tracheo-Oesophageal Fistula, Congenital Anomalies of Genital and Urinary Organs, Congenital Anomalies and Deformations of the Musculoskeletal System: Talipes Equinovarus, Longitudinal Preaxial (Tibia, Radius, First Ray), Longitudinal Axial Defects Split Hand and Foot, Longitudinal Postaxial (Fibula, Ulna, Fifth Ray), Chromosomal Abnormalities: Trisomy 21 (Down Syndrome), Congenital anomalies of the nervous system, Congenital anomalies of the digestive system, Congenital anomalies of the genital and urinary organs, Congenital anomalies and deformations of the musculoskeletal system, Birth Defects Surveillance Course Overview, Module 1: Introduction to Congenital Anomalies Surveillance, 1.1 Public Health and Surveillance of Congenital Anomalies, Module 2: Introduction to Planning Activities and Tools, Module 3: Introduction to Surveillance Approaches, 3.8 Description Formats for Congenital Anomalies, Module 4: Introduction to Diagnosis of Selected Congenital Anomalies, 4.1 External Major Congenital Anomalies for Monitoring, 5.1 International Classification of Diseases, 5.3 Personnel Responsible for Diagnosis and Coding, International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), U.S. Department of Health & Human Services. Depending on capacity and clinical findings, consider imaging to document intracranial anatomy and selected laboratories (genetic studies, viral studies, etc.). Epub 2006 Jul 10. Microcephaly was defined as a HC of more than 3 SD below the mean for sex and gestational age. Congenital microcephaly detected by prenatal ultrasound: Genetic aspects and clinical significance. McMillan M., Porritt K., Kralik D., Costi L., Marshall H. Influenza vaccination during pregnancy: a systematic review of fetal death, spontaneous abortion, and congenital malformation safety outcomes. U.S. Department of Health and Human Services. Noyola D.E., Demmler G.J., Nelson C.T., Griesser C., Williamson W.D., Atkins J.T., Rozelle J., Turcich M., Llorente A.M., Sellers-Vinson S., et al. This review resulted in a detailed summary of 27 articles, including information on the study type, the vaccine, the diagnostic criteria or case definition put forth, the time interval since time of immunisation, and any other symptoms. The anatomical sites (including left or right side) of all immunisations (e.g., vaccine A in proximal left lateral thigh, vaccine B in left deltoid). Distinguish microcephaly from craniosynostosis. Preterm birth: case definition & guidelines for data collection, analysis, and presentation of immunisation safety data. Microcephaly has become prevalent in the news and medical community with the emergence of Zika virus and the associated severe microcephaly with infection during pregnancy. A fetal HC measurement can be obtained starting at approximately 14weeks estimated gestational age. These guidelines represent a desirable standard for the presentation and publication of data on congenital microcephaly following maternal immunisation to allow for comparability of data, and are recommended as an addition to data presented for the specific study question and setting. Licensee MDPI, Basel, Switzerland. Disproportionate microcephaly is associated with worse neurocognitive outcomes and prognosis than proportionate microcephaly, yet the 2 phenotypes are not routinely distinguished in studies. Accessibility When using the ellipse facility this should run along the outer border of the skull (D). Other studies define severe microcephaly as greater than three SD below the mean, which includes about 0.1% of the population [1,8,9,10]. There was no annual variation in these overall estimates (p=0.48 and p=0.99, respectively), nor in the studied subgroups. Missouri Department of Health and Senior Services, Jefferson City (MO) (CHIME Publications No. As maximum specificity normally implies a loss of sensitivity, additional diagnostic levels have been included in the definition, offering a stepwise increase of sensitivity from Level One down to Level Four or Five, while retaining an acceptable level of specificity at all levels. Soares de Arajo J.S., Regis C.T., Gomes R.G.S., Tavares T.R., Rocha dos Santos C., Assuncao P.M., Nbrega R.V., Alves Pinto D.d.F., Bezerra B.V.D., da Silva Mattos S. Microcephaly in north-east Brazil: A retrospective study on neonates born between 2012 and 2015. The live birth hospital based prevalence of microcephaly (as a proportion of all live births) was 4.5 (3.9 to 4.9) per 10 000; 1.2% of all births were stillbirths, and as a proportion of all stillbirths the microcephaly prevalence was higher at 17.5 (16.9 to 18.1) per 10 000. Two infants with Zika-related microcephaly have been born in California this year to women who had Zika virus infections during . The Center for Disease Control and Prevention (CDC) collects birth defects data including microcephaly and estimates the incidence to be 212/10,000 live births in the United States [11]. Terms to describe congenital microcephaly such as low-grade, mild, moderate, high, severe or significant are highly subjective, prone to wide interpretation, and should be avoided, unless clearly defined. Measuring Head Circumference (image reproduced from reference CDCs response to Zika [56]). Prevention CfDCa. The current study was designed to investigate co-occurrence of absolute/relative microcephaly, absolute/relative macrocephaly and congenital nervous system disorders or neurological syndromes with symptoms visible since infancy, based on fundamental data acquired during the admission procedure at a neurological rehabilitation ward for children and adolescents. and transmitted securely. If not detected prenatally, as is often the case in low resource settings, congenital microcephaly is most commonly diagnosed postnatally, in the first few days following birth or during autopsy of stillbirths or spontaneous or therapeutic abortions. The additional guidelines have been developed as guidance for the collection of information to allow for a more comprehensive understanding of congenital microcephaly following maternal immunisation. Severe microcephaly is defined as head circumference more than 3 SDs below the mean for age and sex [4], [5], [6], [7]. Brain MRI of 1 girl showed severe microcephaly with a proportionate reduction in the size of most other brain structures, including the cerebellum and brain stem, associated with agenesis of the corpus callosum. Studies have shown that genetic testing and chromosomal microarrays can determine an underlying cause of microcephaly in 15.352% of cases [24,25]. Zika virus protection by a single low-dose nucleoside-modified mRNA vaccination. Facts about microcephaly; 2016. Zika virus infection disrupts neurovascular development and results in postnatal microcephaly with brain damage. For the mother, pre-conception medical history, including hospitalisations, underlying diseases/disorders, and medications as well as medical history during pregnancy such as exposure to substances related to congenital microcephaly, tobacco use, alcohol use, illicit drug use, pre-immunisation signs and symptoms including identification of indicators for, or the absence of, a history of allergy to vaccines, vaccine components or medications. Making comparisons to parents' HCs may be important as familial forms of mild microcephaly have been described. Studies do not consistently separate the two, making information about prognosis more difficult to determine as well. Congenital microcephaly should be diagnosed either prenatally or during the first 6weeks of life. Additionally, it is recommended to refer to existing general guidelines for the presentation and publication of randomised controlled trials, systematic reviews, and meta-analyses of observational studies in epidemiology (e.g. They point out that while disproportionate microcephaly is the most talked about feature of babies with congenital Zika infection, there are also cases where proportionate microcephaly is. Any condition that affects the process of brain growth can result in microcephaly [21]. 1 in 1,000 births. Describe evaluations to find or rule out related and associated anomalies: Report whether autopsy (pathology) findings are available and if so, report the results. Microcephaly is a problem with the way the brain or nervous system grows. Ideally, the measurement should be taken three times (use largest). In the largest published cohort of infants with microcephaly, genetic causes accounted for approximately one third of cases followed by perinatal brain injury and postnatal brain injury [22]. Kohl K.S., Walop W., Gidudu J., Ball L., Halperin S., Hammer S.J. Organization WH. Shimada M., Matsuzaki F., Kato A., Kobayashi J., Matsumoto T., Komatsu K. Induction of Excess Centrosomes in Neural Progenitor Cells during the Development of Radiation-Induced Microcephaly. It needs to be emphasised that the grading of definition levels is used to determine diagnostic certainty, not the clinical severity of an event. Rashid Y, Crow Y, Bond J, Woods CG. phenotype of primary microcephaly due to ASPM mutations. 11). Head size measurements were done on all babies with microcephaly, and most also had brain scans. Passemard S., Kaindl A.M., Verloes A. Microcephaly. A thorough and detailed history and physical examination may suggest a diagnosis or further testing. OR (immunisation and pregnan).ti. (^A#0T5, b,l$=K4#PSx y#DWed0 Ujm The new PMC design is here! Angelo M.G., Zima J., Tavares Da Silva F., Baril L., Arellano F. Post-licensure safety surveillance for human papillomavirus-16/18-AS04-adjuvanted vaccine: more than 4 years of experience. paediatric geneticist, paediatric neurologist) can confirm the diagnosis of an underlying brain abnormality and might help identify the underlying cause of microcephaly. The prognosis is usually worse for children who experienced an intrauterine infection or have a chromosomal or metabolic abnormality. This can be caused by a variety of conditions or by exposure to harmful substances while the baby is in the womb. Low weight and proportionate microcephaly were similar among newborns from both periods. Kohl K.S., Gidudu J., Bonhoeffer J., Braun M.M., Buettcher M., Chen R.T. Measuring head circumference. hVYo8+|LmyP,mM)6bsj)Fvm93iKS8&4gRzd The number of symptoms and/or signs that will be documented for each case may vary considerably. Viral, 1498 0 obj <>stream MRI, genetic, or metabolic testing should be considered if the child develops neurologic signs or symptoms or worsening microcephaly. will also be available for a limited time. The severity of microcephaly ranges from mild to severe. Congenital microcephaly may occur as an isolated structural birth defect or in combination with other birth defects. OR (microcephaly or microencephaly or small head).sh,kw. Consistent with the Brighton Case Definition for congenital anomalies [53], we note that the first trimester of pregnancy is considered the most critical period for teratogen exposure with regards to subsequent effects on fetal development [55]. Also, for the mother, any medication history (other than treatment for the event described) prior to, during, and after immunisation including prescription and non-prescription medication a specific focus on potentially teratogenic medication exposures. We have also included radiology findings, specifically fetal ultrasound examination results, for use in the prenatal definition for congenital microcephaly. In April 2016, the CDC released a statement that, after extensive review of the evidence and literature and using criteria to establish causality when evaluating teratogens, it had concluded that a causal relationship exists between prenatal Zika virus infection and microcephaly and other serious brain defects [34]. 8600 Rockville Pike The site is secure. Federal government websites often end in .gov or .mil. Increments specified above should be used. 2009 Sep Sugimoto T., Yasuhara A., Nishida N., Murakami K., Woo M., Kobayashi Y. MRI of the head in the evaluation of microcephaly. A thorough history and complete physical examination are the first steps in evaluating a child with microcephaly. No cases of congenital microcephaly were reported to the Vaccine Adverse Event Reporting System following maternal immunisation with the tetanus, diphtheria and acellular pertussis vaccine (Tdap) during pregnancy for the time from 2011 to 2015 [52]. Outcomes are highly variable and depend on the underlying cause. However, without universally accepted standards in defining and reporting microcephaly, studies vary, and some authors separate etiologies and outcomes while others keep them combined, making predicting prognosis for affected patients difficult [4,10,11]. will also be available for a limited time. government site. Thus, congenital microcephaly can be classified as diagnosed postnatally or prenatally, based exclusively on the timing of when the diagnosis of microcephaly is made [5]. Kallen B., Olausson P.O. Buck Louis G.M., Grewal J., Albert P.S., Sciscione A., Wing D.A., Grobman W.A. Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. The level of the cross-section through the fetal head for correct measurement (A). All but our patient displayed hypoplastic cerebellum or a proportionate reduction in the size of cerebellum, and . Acquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes. Assessment of infants with microcephaly in the context of Zika virus; 2016. CDC twenty four seven. Czeizel A.E., Rockenbauer M. Tetanus toxoid and congenital abnormalities. endstream endobj 1476 0 obj <>stream : 4.46); 2002. The .gov means its official. Careers. In cases of congenital microcephaly, intracranial anatomy may be distorted and other associated intracranial findings may be present [61]. Microcephaly was considered disproportionate if HC was >2 SDs below the mean for GA and sex, but birth length or weight were not >2 SDs above the mean; it was considered proportionate if HC, length, and weight at birth were all >2 SDs below the mean for GA and sex. Silveira C.M., Caceres V.M., Dutra M.G., Lopes-Camelo J., Castilla E.E. Report neurologic status and signs (e.g. Basit S., Al-Harbi K.M., Alhijji S.A.M., Albalawi A.M., Alharby S., Eldardear A., Samman M.I. Therefore, postponing HC measurements until after 24 hours of life to allow for birth process changes to subside results in not having appropriate comparison standards. Genetic causes of microcephaly and lessons for neuronal development. about navigating our updated article layout. In congenital CMV, head circumference at birth shows a high correlation to intelligence quotient (IQ) scores in childhood [21]. Hashmi J.A., Al-Harbi K.M., Ramzan K., Albalawi A.M., Mehmood A., Samman M.I., Basit S. A novel splice-site mutation in the ASPM gene underlies autosomal recessive microcephaly. Date and time of maternal immunisation(s). 11). Georges Vaccine Institute, Institute of Infection & Immunity, St. Georges University of London, London, UK, hKaiser Permanente Vaccine Study Centre, Oakland, CA, United States, iRutgers New Jersey Medical School, Newark, NJ, United States, jDepartment of Paediatrics and Child Health, Aga Khan University, Pakistan, kKelly Government Solutions (KGS), Contractor to DAIDS/NIAID/NIH, Rockville, United States, lNational Institutes of Health/National Institute of Allergy and Infectious Disease, United States, mInstitute of Child Health & Department of Paediatrics, University of Nigeria Teaching Hospital, Enugu, Nigeria, nSanofi Pasteur, Global Pharmacovigilance, Sanofi Pasteur, United States, oMedical Research Council: Respiratory and Meningeal Pathogens Research Unit, Johannesburg, Department of Science and Technology National Research Foundation, Vaccine Preventable Diseases, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa, pGlobal Healthcare Consulting, Delhi, India, rErasmus University Medical Center, Rotterdam, The Netherlands, qISGlobal, Barcelona Ctr. 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