proportionate microcephaly

. Microcephaly comes from "micro," meaning small, and "cephaly," meaning head. Increments specified above should be used. Describe evaluations to find or rule out related and associated anomalies: Report whether autopsy (pathology) findings are available and if so, report the results. 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]. Primary and secondary microcephaly could be differentiated in 42% of patients (n=287), with primary microcephaly occur-ring in 38% (n=109) and secondary microcephaly in 62% Two infants with Zika-related microcephaly have been born in California this year to women who had Zika virus infections during . Huang W.T., Tang F.W., Yang S.E., Chih Y.C., Chuang J.H. 9.4 Head circumference charts Papageorghiou A.T., Thilaganathan B., Bilardo C.M., Ngu A., Malinger G., Herrera M. ISUOG Interim Guidance on ultrasound for Zika virus infection in pregnancy: information for healthcare professionals. Measuring parental head circumferences is important, as it may help diagnose familial microcephaly. 'q`)qJ'k m-pe{\4Ux~Qnz_=0G3*H2ix*8 tstL ! However, we believe it is important to record the time interval between maternal immunisation at any time during pregnancy and the diagnosis of congenital microcephaly in order to best evaluate the association between maternal vaccination and congenital microcephaly. Since the involvement of the CDC, World Health Organization (WHO), and the emergence of more cases of congenital Zika virus infections and microcephaly, extensive research in the mechanism of microcephaly has been explored. Date of birth, gestional age at time of stillbirth, or gestational age at time of spontaneous or therapeutic abortion, if applicable estimated gestational age at time of fetal demise, age of mother, age of infant or gestational age of fetus, race and ethnicity of both infant and mother, and sex of fetus. 2006 Aug;12(8):358-66. (CRESIB), Hospital Clnic University of Barcelona, Barcelona, Spain. Additionally, increasing resources are being made available for the prevention and research of Zika virus including mosquito prevention and identification, and limiting travel to highly endemic areas. 5The date and/or time of first observation of the first sign or symptom indicative for congenital microcephaly can be used if date/time of onset is not known. The .gov means its official. 1 Arguments have been made for an OFC of <2 SD or <3 SD to be used to define a person less than 19 years old as having microcephaly. Congenital microcephaly, also referred to as primary microcephaly due to its presence in utero or at birth, is a descriptive term for a structural defect in which a fetus or infants head (cranium) circumference is smaller than expected when compared to other fetuses or infants of the same gestational age, sex and ethnic background. LIFE. Society for Maternal-Fetal Medicine Publications C Ultrasound screening for fetal microcephaly following Zika virus exposure. 8To determine the appropriate category, the user should first establish, whether a reported event meets the criteria for the lowest applicable level of diagnostic certainty, e.g., Level three. In some high resource settings, microcephaly may be diagnosed prenatally through ultrasound or other advanced imaging. See Fig. Determining the etiology of microcephaly can help further research into the prevention of this condition. If you need to go back and make any changes, you can always do so by going to our Privacy Policy page. Seattle; 1993-2022. Autosomal recessive primary microcephaly: an 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]. Early predictors of neurodevelopmental outcome in symptomatic congenital cytomegalovirus infection. U.S. Department of Health and Human Services. 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. With the emergence of Zika virus and expected poorer outcomes associated with severe microcephaly, focusing on prevention and vaccine development to help decrease cases of congenital microcephaly are at the forefront of worldwide health agencies. The search resulted in the identification of 23 references written in English. She had initially presented with failure to thrive, proportional microcephaly as well as autoimmune hemolytic anemia (AIHA), which responded well to treatment with prednisolone. If you do not allow these cookies we will not know when you have visited our site, and will not be able to monitor its performance. What are the different ways a genetic condition can be inherited? The following guidelines represent a desirable standard for analysis of data on congenital microcephaly to allow for comparability of data, and are recommended as an addition to data analysed for the specific study question and setting. To use the sharing features on this page, please enable JavaScript. Newborn with a normal head size, microcephaly, and severe microcephaly Fig. There continues to be more genes and novel mutations being discovered [13,14,15,16,17,18,19]. In those with a known etiology, about half were due to a genetic cause, 45% were associated with perinatal injury, and 3% were caused by postnatal injury [5]. Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de If after the first trimester, gestational age has not yet been confirmed and congenital microcephaly is suspected, HC should not be used to determine gestational age [60]. Congenital microcephaly detected by prenatal ultrasound: Genetic aspects and clinical significance. While a number of genetic, metabolic, environmental, and infectious insults can disturb brain growth and cause microcephaly, no etiology is identified in up to 40% of cases. and transmitted securely. The rise in Zika infections (transmitted by mosquitos) in Brazil during pregnancy became the leading hypothesis for the dramatic increase in microcephaly cases [33]. Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review). hb```e``! ",@9&0h:38K "~2::9 0/bx]@C:LwR{|, NEWS. This approach should be continued until the highest level of diagnostic certainty for a given event could be determined. It is commonly defined as a significant reduction in the occipital-frontal head circumference (OFC) compared with age and sex (but sometimes not ethnically) matched controls. The distribution of data (as numerator and denominator data) could be analysed in predefined increments (e.g., measured values, times), where applicable. Proportional microcephaly occurs when the head circumference is >2-3 SD below the mean in addition to height and weight being at similar percentiles. will also be available for a limited time. In addition to congenital microcephaly, studies have also shown a mechanism in which Zika virus could contribute to postnatal head growth, independent of the time of infection (congenital vs. postnatal). Results: In this cohort of 8275 neonates admitted to eight private NICUs, the overall prevalence of microcephaly was 5.6% (95% CI 5.1% to 6.1%) and severe microcephaly, 1.5% (95% CI 1.2% to 1.7%). ENTERTAINMENT. We also do not include specific time frames for onset of symptoms following immunisation. The duration of follow-up reported during the surveillance period should be predefined likewise. Munoz F.M., Bond N.H., Maccato M., Pinell P., Hammill H.A., Swamy G.K. Safety and immunogenicity of tetanus diphtheria and acellular pertussis (Tdap) immunization during pregnancy in mothers and infants: a randomized clinical trial. Proportionate microcephaly was defined as OFC, length, and weight below the third centile for sex and age, whereas disproportionate microcephaly was defined as isolated microcephaly, implying length and/or weight to be above the third centile for sex and age. follow standard rules for taking HC measurement within 24 hours after birth). Mild or proportionate microcephaly may go unrecognized unless a child's HC is measured accurately. Souza B.S.F., Sampaio G.L.A., Pereira C.S., Campos G.S., Sardi S.I., Freitas L.A.R., Figueira C.P., Paredes B.D., Nonaka C.K.V., Azevedo C.M., et al. Organization WH. Investigators developing a data collection tool based on these data collection guidelines also need to refer to the criteria in the case definition, which are not repeated in these guidelines. Adverse events following measles, mumps, and rubella vaccine in adults reported to the vaccine adverse event reporting system (VAERS), 20032013. Teratogenic exposures. People with MCPH usually have few or no other features associated with the condition. The American Academy of Neurology has published practice parameters in the evaluation of children with microcephaly [3]. Guidelines 142 below have been developed to address data elements for the collection of adverse event information as specified in general drug safety guidelines by the International Conference on Harmonization of Technical Requirements for Registration of Pharmaceuticals for Human Use [66], and the form for reporting of drug adverse events by the Council for International Organizations of Medical Sciences [67]. Does a small head always mean microcephaly? In: what is the primary stimulus for head growth Brain growth microcephaly always accompanies microcephaly except in cases of generalized craniosynostosis, in which skull growth is restricted . In addition to microcephaly, children with these intrauterine infections often have other abnormal clinical findings which can include hepatosplenomegaly, rashes, chorioretinitis, and intracranial calcifications. The size of the cranial vault is an indicator of the size of the underlying brain. Motor skills, such as sitting, standing, and walking, may also be mildly delayed. Microcephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare and genetic disorder, which is mainly caused by mutations in the CASK gene. about navigating our updated article layout. Barkovich A.J., Kuzniecky R.I., Jackson G.D., Guerrini R., Dobyns W.B. Pasternak B., Svanstrom H., Molgaard-Nielsen D., Krause T.G., Emborg H.D., Melbye M. Risk of adverse fetal outcomes following administration of a pandemic influenza A(H1N1) vaccine during pregnancy. Buck Louis G.M., Grewal J., Albert P.S., Sciscione A., Wing D.A., Grobman W.A. As exome sequencing becomes more readily available and interpretable, more genes linked to microcephaly are expected to be discovered [7,9]. Some academics have advocated for defining severe microcephaly as an HC more than 3 SDs below the mean. The reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. Keller-Stanislawski B., Englund J.A., Kang G., Mangtani P., Neuzil K., Nohynek H. Safety of immunization during pregnancy: a review of the evidence of selected inactivated and live attenuated vaccines. While a series of 360 births with congenital microcephaly in Missouri, United States in the 1990s suggested a population incidence of more than 7 cases per 10,000 births [10], more recent data estimate congenital microcephaly rates from 2 to 12 cases per 10,000 livebirths [11]. ); Results of laboratory examinations (e.g., congenital syphilis, toxoplasmosis, Zika virus infection, other congenital infections) including genetic testing, surgical and/or pathological findings and diagnoses if present (e.g., results of amniocentesis). ], and expiration date) and number of dose if part of a series of immunisations against the same disease). Vaccination against H1N1 influenza with Pandemrix during pregnancy and delivery outcome: a Swedish register study. Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. Document the HC percentile or SD, by gestational age and sex (use the Recommended References for HC provided by INTERGROWTH-21st or WHO). The availability of information may vary depending upon resources, geographical region, and whether the source of information is a prospective clinical trial, a post-marketing surveillance or epidemiological study, or an individual report of congenital microcephaly. The guidelines are not intended to guide the primary reporting of congenital microcephaly to a surveillance system or study monitor. Proportional microcephaly occurs when the head circumference is >2-3 SD below the mean in addition to height and weight being at similar percentiles. Fetus of at least 24weeks GA based on certain LMP with confirmatory 1st trimester or 2nd trimester US scan IUI, or embryo transfer date, HC 2 SD below mean or <3 percentile according to fetal US scan using appropriate standardized reference charts according to GA and gender for the population (e.g., WHO growth reference charts if GA 37weeks and Intergrowth-21st reference charts for GA 2436weeks), Confirmation of microcephaly (i.e., HC 2 SD below mean or <3 percentile) in fetus by at least one additional US scan after 24weeks and at least one week after first US, Confirmation of microcephaly by HC measurement with standard tape measure at birth or autopsy, Fetus of at least 24weeks GA based on uncertain LMP with 2nd trimester US, HC 2 SD below mean or <3 percentile according to fetal ultrasound (US) examination using appropriate standardized reference charts according to GA and gender for the population (e.g., WHO growth reference charts if GA 37weeks and Intergrowth-21st reference charts for GA 2436weeks), Fetus of at least 24weeks GA based on certain or uncertain LMP with fundal height and no confirmatory 1st or 2nd trimester US scan, HC 2 SD below mean or <3 percentile according to fetal US scan using appropriate standardized reference charts according to GA and gender for the population (e.g., WHO growth reference charts if GA 37weeks and Intergrowth-21st reference charts for GA 2436weeks) with femur length and abdominal circumference concordant with GA assessment, Confirmation of microcephaly (i.e., HC 2 SD below mean or <3 percentile) in fetus with at least one additional US scan after 24weeks and at least one week after first US, Fetus of at least 24weeks GA based on certain LMP with confirmatory 1st trimester or 2nd trimester US scan, uncertain LMP with 2nd trimester US, IUI, or embryo transfer date, No additional data to confirm microcephaly (i.e., No additional prenatal US scan or confirmation of microcephaly by HC measurement at birth or autopsy), Fetus of at least 24weeks GA based on certain LMP with confirmatory 1st trimester or 2nd trimester US scan, uncertain LMP with 2nd trimester US, IUI, embryo transfer date, or certain or uncertain LMP with fundal height and no confirmatory 1st or 2nd trimester US scan, HC at birth or autopsy is in the normal range using appropriate standardized reference charts according to GA and gender for the population, which means that this is NOT a case of prenatally diagnosed congenital microcephaly, Name and contact information of person reporting. Trends Prognosis depends on the underlying cause of microcephaly. Thus, despite congenital microcephaly typically being associated with a small head circumference, in the case of hydrocephalus, since there can be reduced brain mass with a normal or enlarged head circumference due to enlarged ventricles from excess central nervous system fluid it would still be considered microcephaly. Zika virus has rapidly spread since 2015, and maternal infection with this virus is associated with microcephaly and other serious brain abnormalities. Den Hollander N.S., Wessels M.W., Los F.J., Ursem N.T., Niermeijer M.F., Wladimiroff J.W. Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. We have incorporated this additional level of classification into our case definition. This may only be possible to determine in retrospect. However laboratory data (e.g., genetic test results) should be included as supportive data as many known causes of congenital microcephaly can be diagnosed through laboratory studies. As previously discussed, maternal immunisation has not been associated with congenital microcephaly in offspring. Detailed information about the severity of the event should always be recorded, as specified by the data collection guidelines. Use of prenatal vitamins and folic acid should also be noted. Bull World Health Organ. HOME. ;[EG-eWTre.a,. 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]. Fig. HHS Vulnerability Disclosure, Help The goal of developing this guideline is to improve and standardize data collection and interpretation in order to evaluate for associations between maternal immunisation and congenital microcephaly. Missouri Department of Health and Senior Services, Jefferson City (MO) (CHIME Publications No. Cox J, Jackson AP, Bond J, Woods CG. Appendix ASupplementary data associated with this article can be found, in the online version, at https://doi.org/10.1016/j.vaccine.2017.01.044. OR ((vaccine or vaccination) and pregnant).sh,kw. von der Hagen M., Pivarcsi M., Liebe J., von Bernuth H., Didonato N., Hennermann J.B. Congenital microcephaly should be diagnosed either prenatally or during the first 6weeks of life. Another study evaluating those who developed postnatal microcephaly found that 100% had abnormal MRI findings, usually hydranencephaly or infarction [22]. Genetic testing is the new frontier in evaluating the etiology of microcephaly as both specific genetic testing and whole exome sequencing become more readily available. When microcephaly develops later in infancy or childhood, it is called . Causes of primary [congenital] microcephaly: overview. National Center for Emerging and Zoonotic Infectious Diseases (NCEZID) CfDCaP. Pardi N., Hogan M.J., Pelc R.S., Muramatsu H., Andersen H., DeMaso C.R., Dowd K.A., Sutherland L.L., Scearce R.M., Parks R., et al. Congenital microcephaly is present at birth, whereas postnatal microcephaly occurs later in life. MRI: magnetic resonance imaging; SD: Standard Deviation. 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]. Conclusion: Head circumference showed highly . Kadir R., Harel T., Markus B., Perez Y., Bakhrat A., Cohen I., Volodarsky M., Feintsein-Linial M., Chervinski E., Zlotogora J., et al. Kohl K.S., Gidudu J., Bonhoeffer J., Braun M.M., Buettcher M., Chen R.T. 11). Soares de Arajo J.S.R.C., Gomes R.G.S., Tavares T.R., Rocha dos Santos C., Assuno P.M. Microcephaly in northeast Brazil: a review of 16 208 births between 2012 and 2015. These studies may include specific metabolic testing when a strong clinical suspicion based on the physical exam or family history is suspected. A. Postnatally diagnosed Congenital Microcephaly Case Definition, B. Prenatally diagnosed Congenital Microcephaly Case Definition. These include intellectual disability, developmental delay, epilepsy, cerebral palsy, as well as ophthalmologic and audiologic disorders. It was the consensus of the Brighton Collaboration Congenital Microcephaly Working Group to recommend the following guidelines to enable meaningful and standardized collection, analysis, and presentation of information about congenital microcephaly. In order to avoid selecting against such cases, the Brighton Collaboration case definition avoids setting arbitrary time frames. The mutations involved are most often premature stop codons resulting in the halt of cell cycle progression, causing centromere abnormalities that lead to early apoptosis [14]. A retrospective study of a cohort of 680 children with microcephaly reported a known etiology in 59% of all patients. %%EOF Harjulehto-Mervaala T., Aro T., Hiilesmaa V.K., Hovi T., Saxen H., Saxen L. Oral polio vaccination during pregnancy: lack of impact on fetal development and perinatal outcome. Microcephaly has been stratified and studied differently based on the etiology and the timing of onset. Another difficulty in using standard deviations to report, study, and monitor microcephaly is the concept of proportional microcephaly. Microcephaly: general considerations and aids to nosology. In 20152016, reports emerged from Brazil about a significant rise in the rates of microcephaly, up to 48% of all live births. 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. Although head moulding and/or swelling can occur during the birthing process, HC measurements should be obtained within the first 24 hours of life. Goss M.A., Lievano F., Buchanan K.M., Seminack M.M., Cunningham M.L., Dana A. Quinn J, Munoz FM, Gonik B, Frau L, Cutland C, Mallett-Moore T, et al. All but our patient displayed hypoplastic cerebellum or a proportionate reduction in the size of cerebellum, and . 11). The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. Organization WH. Relation to the patient (e.g., immunizer [clinician, nurse], family member [indicate relationship], other). Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. The recent rapid spread of Zika virus will lead to an increase in prenatal Zika virus infections, which will cause an increase in microcephaly and other serious brain abnormalities. There are very limited data on the prevalence of congenital microcephaly in low and middle-income countries (LMIC). While low birth weight and proportional microcephaly has its own set of complications and prognosis, these children do not have the same prognosis and trends of neurocognitive outcomes as those with microcephaly in the setting of normal weight and height. The finding of proportionate microcephaly suggests that in some cases, ZIKV might affect fetal growth instead of or in addition to having a specific destructive effect on the fetal brain. INTERGROWTH-21st) and cut-off points you are using to define microcephaly. Multiple general medical, pediatric and infectious disease textbooks were included in the search criteria. Prog Neurobiol. Zika virus and birth defectsReviewing the evidence for causality. Rasmussen S.A., Jamieson D.J., Honein M.A., Petersen L.R. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). Route and method of administration (e.g., intramuscular, intradermal, subcutaneous, and needle-free (including type and size), other injection devices). It needs to be emphasised that the grading of definition levels is used to determine diagnostic certainty, not the clinical severity of an event. Review. Epub 2009 Oct 21. A fetal HC measurement can be obtained starting at approximately 14weeks estimated gestational age. Underreporting and varying study definitions make it difficult to track and report a true incidence of microcephaly. Studies do not consistently separate the two, making information about prognosis more difficult to determine as well. Accessibility Obican S., Scialli A.R. Accessibility 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. They do not necessarily represent the official positions of each participants organisation (e.g., government, university, or corporation). Table 1 is a reproduced table which provides an extensive list of genetic disorders including metabolic disorders, perinatal brain injury due to maternal disease or teratogen exposure (including in utero drug or toxin exposure and infectious agents such as toxoplasmosis, rubella, cytomegalovirus, Herpes simplex, syphilis, parvovirus B19, and varicella [TORCH infections]) during pregnancy [22]. One study that followed childrens head circumference growth parameters prenatally through childhood found no correlation between neurocognitive outcomes and head circumference alone [2]. The gyral folding of the cerebral cortex was extremely simplified; there were almost no detectable sulci other than the Sylvian fissure. Measuring Head Circumference (image reproduced from reference CDCs response to Zika [56]). The https:// ensures that you are connecting to the In those with severe microcephaly (greater than three SD below the mean), abnormal findings on MRI were more likely than those with less severe microcephaly (80% vs. 43%) [21]. Prior to Zika virus, the most common congenital infections causing microcephaly were TORCH infections. The current incidence ranges from 1.3150/100,000 depending on the level of consanguinity of the population [13]. 2010 Mar;90(3):363-83. doi: In cases where the microcephaly is not proportionate or the diagnosis is not clear following a thorough history and physical examination, neuroimaging should be considered as the next step. 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. It is recommended to record the actual measurement of the head circumference in addition to percentile. Nine articles with potentially relevant material were reviewed in more detail, in order to identify studies using case definitions or, in their absence, providing clinical descriptions of the case material. The diagnostic levels must not be misunderstood as reflecting different grades of clinical severity. Additionally, it is important to differentiate congenital microcephaly due to a known cause from congenital microcephaly without clear aetiology. OR (maternal vaccin or maternal immunisation or maternal immunisation).mp. The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003).While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent . Czeizel A.E., Rockenbauer M. Tetanus toxoid and congenital abnormalities. Induration at or near injection site: case definition and guidelines for collection, analysis, and presentation of immunization safety data. Epub 2005 Mar 31. Review. Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Data on possible congenital microcephaly events should be presented in accordance with data collection guidelines 123 and data analysis guidelines 3034. Cookies used to enable you to share pages and content that you find interesting on CDC.gov through third party social networking and other websites. will also be available for a limited time. Making comparisons to parents' HCs may be important as familial forms of mild microcephaly have been described. Acquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes.

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