Microcephaly

Bigler, Erin D.; Petrie, Jo Ann

doi:10.1007/978-3-319-56782-2_1567-2

Erin D. Bigler⁴ &
Jo Ann Petrie⁴

35 Accesses

Synonyms

Abnormal brain growth; Microcephalia vera; Microcephalic; Microcrania; Microencephaly

Short Description or Definition

Cephalic is Greek for head, while encephalic refers to the encephalon or the brain, and micro means small. Thus, microencephaly means a small brain, and microcephaly means a small head. These terms are often associated with brain malformations and subsequent cognitive impairments and, since brain size drives head size, have become mostly interchangeable for diagnosing purposes. Microcephaly is classified as a congenital neurodevelopmental impairment when a child’s head circumference (HC) is 1.96 standard deviations (SDs) or more below average considering age and sex and regarded as either acquired microcephaly or as autosomal recessive primary microcephaly(MCPH). Acquired microcephaly is a syndrome caused by environmental forces including delivery complications or pre- and/or postnatal insult, infection, and/or vascular disruption with accompanying deformed...

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References

Ashwal, S., Michelson, D., Plawner, L., & Dobyns, W. B. (2009). Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 73(11), 887–897. https://doi.org/10.1212/WNL.0b013e3181b783f7.
Article PubMed PubMed Central Google Scholar
Bayless, N. L., Greenberg, R. S., Swigut, T., Wysocka, J., & Blish, C. A. (2016). Zika virus infection induces cranial neural crest cells to produce cytokines at levels detrimental for neurogenesis. Cell Host & Microbe, 20(4), 423–428. https://doi.org/10.1016/j.chom.2016.09.006.
Article Google Scholar
Bergquist, C. S., Nauta, A. C., Selden, N. R., & Kuang, A. A. (2016). Age at the time of surgery and maintenance of head size in nonsyndromic sagittal craniosynostosis. Plastic and Reconstructive Surgery, 137(5), 1557–1565. https://doi.org/10.1097/prs.0000000000002049.
Article PubMed Google Scholar
Bigler, E. D., Tate, D. F., Neeley, E. S., Wolfson, L. J., Miller, M. J., Rice, S. A., … Lainhart, J. E. (2003). Temporal lobe, autism, and macrocephaly. AJNR. American Journal of Neuroradiology, 24(10), 2066–2076.
Google Scholar
Bray, P. A. (1970). Neurology in pediatrics. Chicago: Year Book Medical Publishers.
Google Scholar
Calvet, G. A., Santos, F. B., & Sequeira, P. C. (2016). Zika virus infection: Epidemiology, clinical manifestations and diagnosis. Current Opinion in Infectious Diseases, 29(5), 459–466. https://doi.org/10.1097/qco.0000000000000301.
Article PubMed Google Scholar
Campbell, D. J., Chang, J., & Chawarska, K. (2014). Early generalized overgrowth in autism spectrum disorder: Prevalence rates, gender effects, and clinical outcomes. Journal of the American Academy of Child and Adolescent Psychiatry, 53(10), 1063–1073.e1065. https://doi.org/10.1016/j.jaac.2014.07.008.
Article PubMed PubMed Central Google Scholar
Centers for Disease Control and Prevention. (2016a). Morbidity and mortality weekly report (MMWR): MMWR Zika reports. Retrieved 5 Dec 2016, from https://www.cdc.gov/mmwr/zika_reports.html.
Centers for Disease Control and Prevention. (2016b). National Center for Health Statistics: Growth charts. Retrieved 22 Nov 2016 from http://www.cdc.gov/growthcharts/.
Centers for Disease Control and Prevention. (2016c). Zika and sexual transmission. Retrieved 7 Dec 2016, from https://www.cdc.gov/zika/transmission/sexual-transmission.html.
Chang, C., Ortiz, K., Ansari, A., & Gershwin, M. E. (2016). The Zika outbreak of the 21st century. Journal of Autoimmunity, 68, 1–13. https://doi.org/10.1016/j.jaut.2016.02.006.
Article PubMed Google Scholar
Chen, H. L., & Tang, R. B. (2016). Why Zika virus infection has become a public health concern? Journal of the Chinese Medical Association, 79(4), 174–178. https://doi.org/10.1016/j.jcma.2016.03.001.
Article PubMed Google Scholar
Chen, C. Y., Zimmerman, R. A., Faro, S., Parrish, B., Wang, Z., Bilaniuk, L. T., & Chou, T. Y. (1996). MR of the cerebral operculum: Abnormal opercular formation in infants and children. AJNR American Journal of Neuroradiology, 17(7), 1303–1311.
PubMed Google Scholar
Cheong, J. L., Hunt, R. W., Anderson, P. J., Howard, K., Thompson, D. K., Wang, H. X., …. Doyle, L. W. (2008). Head growth in preterm infants: Correlation with magnetic resonance imaging and neurodevelopmental outcome. Pediatrics, 121(6), e1534–1540. https://doi.org/10.1542/peds.2007-2671.
Cianchetti, C., Sannio-Fancello, G., Fratta, A. L., Pischedda, M. P., Spinicci, G., Marrosu, M. G., & Filippi, G. (1992). Neuropsychological studies in families with fragile-X negative X-linked mental retardation. American Journal of Medicine and Genetics, 43(1–2), 505–509.
Article Google Scholar
Courchesne, E., Chisum, H. J., Townsend, J., Cowles, A., Covington, J., Egaas, B., …. Press, G. A. (2000). Normal brain development and aging: Quantitative analysis at in vivo MR imaging in healthy volunteers. Radiology, 216(3), 672–682. https://doi.org/10.1148/radiology.216.3.r00au37672.
Cugola, F. R., Fernandes, I. R., Russo, F. B., Freitas, B. C., Dias, J. L., Guimaraes, K. P., …. Beltrao-Braga, P. C. (2016). The Brazilian Zika virus strain causes birth defects in experimental models. Nature, 534(7606), 267–271. https://doi.org/10.1038/nature18296.
Fitzhardinge, P. M., & Steven, E. M. (1972a). The small-for-date infant. I. Later growth patterns. Pediatrics, 49(5), 671–681.
PubMed Google Scholar
Fitzhardinge, P. M., & Steven, E. M. (1972b). The small-for-date infant. II. Neurological and intellectual sequelae. Pediatrics, 50(1), 50–57.
PubMed Google Scholar
Govero, J., Esakky, P., Scheaffer, S. M., Fernandez, E., Drury, A., Platt, D. J., … Diamond, M. S. (2016). Zika virus infection damages the testes in mice. Nature. https://doi.org/10.1038/nature20556.
Graf, W. D., Le Pichon, J. B., Bittel, D. C., Abdelmoity, A. T., & Yu, S. (2010). Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 74(13), 1080–1081. https://doi.org/10.1212/WNL.0b013e3181d5e077; author reply 1081.
Article PubMed Google Scholar
Homem, C. C., Repic, M., & Knoblich, J. A. (2015). Proliferation control in neural stem and progenitor cells. Nature Reviews Neuroscience, 16(11), 647–659. https://doi.org/10.1038/nrn4021.
Article PubMed PubMed Central Google Scholar
Huppi, P. S., Warfield, S., Kikinis, R., Barnes, P. D., Zientara, G. P., Jolesz, F. A., … Volpe, J. J. (1998). Quantitative magnetic resonance imaging of brain development in premature and mature newborns. Annals of Neurology, 43(2), 224–235. https://doi.org/10.1002/ana.410430213.
Hwang, S. K., Park, K. S., Park, S. H., & Hwang, S. K. (2016). Update of diagnostic evaluation of craniosynostosis with a focus on pediatric systematic evaluation and genetic studies. Journal of Korean Neurosurgical Society, 59(3), 214–218. https://doi.org/10.3340/jkns.2016.59.3.214.
Article PubMed PubMed Central Google Scholar
Isaacs, E. B., Gadian, D. G., Sabatini, S., Chong, W. K., Quinn, B. T., Fischl, B. R., & Lucas, A. (2008). The effect of early human diet on caudate volumes and IQ. Pediatric Research – Nature, 63(3), 308–314. https://doi.org/10.1203/PDR.0b013e318163a271.
Article Google Scholar
Isaacs, E. B., Fischl, B. R., Quinn, B. T., Chong, W. K., Gadian, D. G., & Lucas, A. (2010). Impact of breast milk on intelligence quotient, brain size, and white matter development. Pediatric Research – Nature, 67(4), 357–362. https://doi.org/10.1203/PDR.0b013e3181d026da.
Article Google Scholar
Ivanovic, D. M., Leiva, B. P., Perez, H. T., Olivares, M. G., Diaz, N. S., Urrutia, M. S., … Larrain, C. G. (2004). Head size and intelligence, learning, nutritional status and brain development. Head, IQ, learning, nutrition and brain. Neuropsychologia, 42(8), 1118–1131. https://doi.org/10.1016/j.neuropsychologia.2003.11.022.
Kanevsky, J., Corban, J., Gaster, R., Kanevsky, A., Lin, S., & Gilardino, M. (2016). Big data and machine learning in plastic surgery: A new frontier in surgical innovation. Plastic and Reconstructive Surgery, 137(5), 890e–897e. https://doi.org/10.1097/prs.0000000000002088.
Article PubMed Google Scholar
Lainhart, J. E., Bigler, E. D., Bocian, M., Coon, H., Dinh, E., Dawson, G., … Volkmar, F. (2006). Head circumference and height in autism: A study by the Collaborative Program of Excellence in Autism. American Journal of Medical Genetics Part A, 140(21), 2257–2274. https://doi.org/10.1002/ajmg.a.31465.
Landgraf, M. N., Nothacker, M., Kopp, I. B., & Heinen, F. (2013). The diagnosis of fetal alcohol syndrome. Deutsches Ärzteblatt International, 110(42), 703–710. https://doi.org/10.3238/arztebl.2013.0703.
PubMed PubMed Central Google Scholar
Li, C., Xu, D., Ye, Q., Hong, S., Jiang, Y., Liu, X., … Xu, Z. (2016). Zika virus disrupts neural progenitor development and leads to microcephaly in mice. Cell Stem Cell, 19(1), 120–126. https://doi.org/10.1016/j.stem.2016.04.017.
Mahmood, S., Ahmad, W., & Hassan, M. J. (2011). Autosomal recessive primary microcephaly (MCPH): Clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet Journal of Rare Diseases, 6, 39. https://doi.org/10.1186/1750-1172-6-39.
Article PubMed PubMed Central Google Scholar
Melo, A. S., Aguiar, R. S., Amorim, M. M., Arruda, M. B., Melo, F. O., Ribeiro, S. T., … Tanuri, A. (2016). Congenital Zika virus infection: beyond neonatal microcephaly. JAMA Neurology. https://doi.org/10.1001/jamaneurol.2016.3720.
Montgomery, S. H., & Mundy, N. I. (2010). Brain evolution: Microcephaly genes weigh in. Current Biology, 20(5), R244–R246. https://doi.org/10.1016/j.cub.2010.01.043.
Article PubMed Google Scholar
Montgomery, S. H., & Mundy, N. I. (2013). Microcephaly genes and the evolution of sexual dimorphism in primate brain size. Journal of Evolutionary Biology, 26(4), 906–911. https://doi.org/10.1111/jeb.12091.
Article PubMed Google Scholar
Moore, C. A., Staples, J. E., Dobyns, W. B., Pessoa, A., Ventura, C. V., Fonseca, E. B., … Rasmussen, S. A. (2016). Characterizing the pattern of anomalies in congenital Zika syndrome for pediatric clinicians. JAMA Pediatrics. https://doi.org/10.1001/jamapediatrics.2016.3982.
Mraz, K. D., Green, J., Dumont-Mathieu, T., Makin, S., & Fein, D. (2007). Correlates of head circumference growth in infants later diagnosed with autism spectrum disorders. Journal of Child Neurology, 22(6), 700–713. https://doi.org/10.1177/0883073807304005.
Article PubMed Google Scholar
Musumeci, S. A., Elia, M., Fichera, M., Amato, C., Ferri, R., Romano, C., & Federico, A. (2006). Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: Report of two unrelated cases. Neurological Sciences, 27(6), 425–431. https://doi.org/10.1007/s10072-006-0724-6.
Article PubMed Google Scholar
Niccols, A. (2007). Fetal alcohol syndrome and the developing socio-emotional brain. Brain and Cognition, 65(1), 135–142. https://doi.org/10.1016/j.bandc.2007.02.009.
Article PubMed Google Scholar
Oliveira, D. B., Almeida, F. J., Durigon, E. L., Mendes, E. A., Braconi, C. T., Marchetti, I., … Berezin, E. N. (2016). Prolonged shedding of Zika virus associated with congenital infection. New England Journal of Medicine, 375(12), 1202–1204. https://doi.org/10.1056/NEJMc1607583.
Panchaud, A., Stojanov, M., Ammerdorffer, A., Vouga, M., & Baud, D. (2016). Emerging role of zika virus in adverse fetal and neonatal outcomes. Clinical Microbiology Reviews, 29(3), 659–694. https://doi.org/10.1128/cmr.00014-16.
Article PubMed PubMed Central Google Scholar
Persutte, W. H. (1998). Microcephaly – no small deal. Ultrasound in Obstetrics & Gynecology, 11(5), 317–318. https://doi.org/10.1046/j.1469-0705.1998.11050317.x.
Article Google Scholar
Saal, H. M. (2016). Genetic evaluation for craniofacial conditions. Facial Plastic Surgery Clinics of North America, 24(4), 405–425. https://doi.org/10.1016/j.fsc.2016.06.001.
Article PubMed Google Scholar
Sampathkumar, P., & Sanchez, J. L. (2016). Zika virus in the Americas: A review for clinicians. Mayo Clinic Proceedings, 91(4), 514–521. https://doi.org/10.1016/j.mayocp.2016.02.017.
Article PubMed Google Scholar
Schuler-Faccini, L., Ribeiro, E. M., Feitosa, I. M. L. , Horovitz, D. D. G., Cavalcanti, D. P., Pessoa, A., … Force, Brazilian Medical Genetics Society–Zika Embryopathy Task. (2016). Possible association between zika virus infection and microcephaly – Brazil, 2015. MMWR Morbidity and Mortality Weekly Report 65, 59–62. https://doi.org/10.15585/mmwr.mm6503e2.
Seltzer, L. E., & Paciorkowski, A. R. (2014). Genetic disorders associated with postnatal microcephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166c(2), 140–155. https://doi.org/10.1002/ajmg.c.31400.
Article Google Scholar
Sullivan, E. V., Adalsteinsson, E., Sood, R., Mayer, D., Bell, R., McBride, W., … Pfefferbaum, A. (2006). Longitudinal brain magnetic resonance imaging study of the alcohol-preferring rat. Part I: Adult brain growth. Alcoholism: Clinical and Experimental Research, 30(7), 1234–1247. https://doi.org/10.1111/j.1530-0277.2006.00145.x.
Tan, M., Abernethy, L., & Cooke, R. (2008). Improving head growth in preterm infants – a randomised controlled trial II: MRI and developmental outcomes in the first year. Archives of Disease in Childhood – Fetal and Neonatal Edition, 93(5), F342–F346. https://doi.org/10.1136/adc.2007.124255.
Article PubMed Google Scholar
Tang, B. L. (2006). Molecular genetic determinants of human brain size. Biochemical and Biophysical Research Communications, 345(3), 911–916. https://doi.org/10.1016/j.bbrc.2006.05.040.
Article PubMed Google Scholar
Tate, D. F., Bigler, E. D., McMahon, W., & Lainhart, J. (2007). The relative contributions of brain, cerebrospinal fluid-filled structures and non-neural tissue volumes to occipital-frontal head circumference in subjects with autism. Neuropediatrics, 38(1), 18–24. https://doi.org/10.1055/s-2007-981450.
Article PubMed Google Scholar
Thapar, A., Martin, J., Mick, E., Arias Vasquez, A., Langley, K., Scherer, S. W., … Holmans, P. (2016). Psychiatric gene discoveries shape evidence on ADHD’s biology. Molecular Psychiatry, 21(9), 1202–1207. https://doi.org/10.1038/mp.2015.163.
Treit, S., Zhou, D., Chudley, A. E., Andrew, G., Rasmussen, C., Nikkel, S. M., … Beaulieu, C. (2016). Relationships between head circumference, brain volume and cognition in children with prenatal alcohol exposure. PLoS One, 11(2), e0150370. https://doi.org/10.1371/journal.pone.0150370.
Villar, J., Cheikh Ismail, L., Victora, C. G., Ohuma, E. O., Bertino, E., Altman, D. G., … Kennedy, S. H. (2014). International standards for newborn weight, length, and head circumference by gestational age and sex: The Newborn Cross-Sectional Study of the INTERGROWTH-21st project. Lancet, 384(9946), 857–868. https://doi.org/10.1016/s0140-6736(14)60932-6.
Villar, J., Giuliani, F., Bhutta, Z. A., Bertino, E., Ohuma, E. O., Ismail, L. C., … Kennedy, S. H. (2015). Postnatal growth standards for preterm infants: The Preterm Postnatal Follow-up Study of the INTERGROWTH-21(st) project. The Lancet Global Health, 3(11), e681–691. https://doi.org/10.1016/s2214-109x(15)00163-1.
Villar, J., Giuliani, F., Fenton, T. R., Ohuma, E. O., Ismail, L. C., & Kennedy, S. H. (2016). INTERGROWTH-21st very preterm size at birth reference charts. Lancet, 387(10021), 844–845. https://doi.org/10.1016/s0140-6736(16)00384-6.
Article PubMed Google Scholar
Vogel, G. (2016a). Infectious disease. Don’t blame sports for Zika’s spread. Science, 351(6280), 1377–1378. https://doi.org/10.1126/science.351.6280.1377.
Article PubMed Google Scholar
Vogel, G. (2016b). Infectious disease. Evidence grows for Zika virus as pregnancy danger. Science, 351(6278), 1123–1124. https://doi.org/10.1126/science.351.6278.1123.
Article PubMed Google Scholar
Vogel, G. (2016c). Infectious disease. Experts fear Zika’s effects may be even worse than thought. Science, 352(6292), 1375–1376. https://doi.org/10.1126/science.352.6292.1375.
Article PubMed Google Scholar
Vogel, G. (2016d). Infectious disease. Mosquito hunters search for Zika vectors. Science, 352(6290), 1152–1153. https://doi.org/10.1126/science.352.6290.1152.
Article PubMed Google Scholar
Vogel, G. (2016e). One year later, Zika scientists prepare for a long war. Science, 354(6316), 1088–1089. https://doi.org/10.1126/science.354.6316.1088.
Article PubMed Google Scholar
Weber, E., Meyer, C., Czorny, A., Chatelain, B., & Benassarou, M. (2016). Surgical guide for the remodelling of the orbito-naso-frontal bandeau in craniosynostosis surgery. Journal of Cranio-Maxillo-Facial Surgery, 44(10), 1561–1566. https://doi.org/10.1016/j.jcms.2016.08.017.
Article PubMed Google Scholar
Whelan, M. A. (2010). Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 74(13), 1079.; author reply 1079. https://doi.org/10.1212/WNL.0b013e3181d5dfca.
Article PubMed Google Scholar
Woods, C. G. (2004). Human microcephaly. Current Opinion in Neurobiology, 14(1), 112–117. https://doi.org/10.1016/j.conb.2004.01.003.
Article PubMed Google Scholar
Woods, C. G., & Basto, R. (2014). Microcephaly. Current Biology, 24(23), R1109–R1111. https://doi.org/10.1016/j.cub.2014.09.063.
Article PubMed Google Scholar
Woods, C. G., Bond, J., & Enard, W. (2005). Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings. The American Journal of Human Genetics, 76(5), 717–728. https://doi.org/10.1086/429930.
Article PubMed Google Scholar
World Health Organization. (2016a). Guideline: Infant feeding in areas of Zika virus transmission, WHO Guidelines approved by the Guidelines Review Committee. Geneve: World Health Organization.
Google Scholar
World Health Organization. (2016b). The WHO growth chart standards. Retrieved 20 Jan 2016, from http://www.who.int/childgrowth/en/.
Yeates, K. O., Ris, M. D., Taylor, H. G., & Pennington, B. F. (Eds.). (2010). Pediatric neuropsychology: Research, theory, and practice (2nd ed.). New York: The Guilford Press.
Google Scholar
Zammarchi, L., Spinicci, M., & Bartoloni, A. (2016). Zika virus: A review from the virus basics to proposed management strategies. Mediterranean Journal Hematology and Infectious Diseases, 8(1), e2016056. https://doi.org/10.4084/mjhid.2016.056.
Article Google Scholar
Zare Mehrjardi, M., Keshavarz, E., Poretti, A., & Hazin, A. N. (2016). Neuroimaging findings of Zika virus infection: A review article. Japanese Journal of Radiology. https://doi.org/10.1007/s11604-016-0588-5. [Published online November 1, 2016].
Zare Mehrjardi, M., Poretti, A., Huisman, T. A., Werner, H., Keshavarz, E., & Araujo Junior, E. (2017). Neuroimaging findings of congenital Zika virus infection: A pictorial essay. Japanese Journal of Radiology. https://doi.org/10.1007/s11604-016-0609-4. [Published online January 10, 2017].

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Department of Psychology and the Neuroscience Center, Brigham Young University, Provo, UT, USA
Erin D. Bigler & Jo Ann Petrie

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Jeffrey Kreutzer
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Bigler, E.D., Petrie, J.A. (2018). Microcephaly. In: Kreutzer, J., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-56782-2_1567-2

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DOI: https://doi.org/10.1007/978-3-319-56782-2_1567-2
Received: 09 February 2017
Accepted: 28 September 2017
Published: 22 November 2017
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-56782-2
Online ISBN: 978-3-319-56782-2
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