MICROCEPHALY DEVELOPMENTAL IMPLICATIONS IN BIRTH-3 Diana M. Cejas, MD, MPH Child Neurology Fellow The University of Chicago Comer Children s Hospital
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1 Early Intervention Training Program at the University of Illinois at Urbana Champaign presents Microcephaly: Developmental Implications in Birth-3 The webinar will begin at (1:30 PM CST). There will be minimal audio before the webinar begins. Please run the audio setup wizard to make sure your speakers work. You will not need to test your microphone! (Skip microphone setup) Audio Setup Wizard MICROCEPHALY DEVELOPMENTAL IMPLICATIONS IN BIRTH-3 Diana M. Cejas, MD, MPH Child Neurology Fellow The University of Chicago Comer Children s Hospital SURVEY & CERTIFICATE This webinar has ILLINOIS EI credit as well as ILLINOIS STATE LICENSURE* credit *OT, PT, SLP, SW, Nutrition/Dietitian Look for from eitraining@illinois.edu AFTER the webinar complete survey to receive certificate If you joined as a group, each individual will need to complete the unique survey for credit 1
2 GOALS AND OBJECTIVES By the end of this talk, you will be able to Define microcephaly List several potential causes of and conditions that are associated with microcephaly Describe the workup for a child with microcephaly WHAT IS MICROCEPHALY? Definition Head circumference more than 3 standard deviations below the mean for age, gender, and conceptual age. WHAT IS MICROCEPHALY? Definition Head circumference more than 3 standard deviations below the mean for age, gender, and conceptual age. Causes Premature suture closure (craniosynostosis) Impaired brain growth (most common cause) 2
3 MICROCEPHALY CLASSIFICATION Primary Secondary What types of genetic disorders result in primary microcephaly? Noted at birth PRIMARY MICROCEPHALY Can be inherited (autosomal dominant, autosomal recessive, or X-linked) or associated with chromosomal syndromes X-linked microcephaly is associated with gene mutations that cause structural brain malformations 3
4 STRUCTURAL BRAIN MALFORMATIONS AND PRIMARY MICROCEPHALY Polymicrogyria Holoprosencephaly Lissencephaly Normal Brain STRUCTURAL BRAIN MALFORMATIONS AND PRIMARY MICROCEPHALY Polymicrogyria Holoprosencephaly Lissencephaly Normal Brain STRUCTURAL BRAIN MALFORMATIONS AND PRIMARY MICROCEPHALY Polymicrogyria Holoprosencephaly Lissencephaly Normal Brain 4
5 PRIMARY MICROCEPHALY, CONTINUED Down (trisomy 21) Edward (trisomy 18) Cri-duchat (5 p-) Cornelia de Lange Rubinstein- Taybi Smith- Lemli-Opitz SECONDARY MICROCEPHALY Usually develops after birth Children may have a normal head circumference initially Caused by conditions that affect brain growth Most common causes include inborn errors of metabolism, injuries, infections, and toxins SECONDARY MICROCEPHALY, CONTINUED Infections that are commonly associated with secondary microcephaly: Cytomegalovirus Rubella Toxoplasmosis Zika Virus 5
6 SECONDARY MICROCEPHALY, CONTINUED Genetic conditions that are associated with secondary microcephaly Mitochondrial disorders Menkes disease Rett syndrome Congenital disorder of glycosylation Peroxisomal disorder Glucose transporter defect Congenital disorders of amino acid metabolism Organic academia Nijmegen breakage syndrome Aicardi Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome SECONDARY MICROCEPHALY, CONTINUED Toxins Alcohol Hydantoin Lead Radiation Injuries Traumatic brain injury Ischemic stroke Hemorrhagic stroke Hypoxic-ischemic encephalopathy Meningitis / encephalitis Other Malnutrition Maternal diabetes mellitus Maternal hyperphenylalaninemia Hyperthermia Placental insufficiency CRANIOSYNOSTOSIS Another cause of microcephaly Premature fusion of cranial sutures Can be isolated or syndromic Most common - Sagittal synostosis > coronal > metopic > lambdoid 6
7 MICROCEPHALY EPIDEMIOLOGY 2-12 / 100,000 live births Recently there has been an increase in prevalence in Brazil that is attributed to Zika Virus A member of the Flaviviridae virus family ZIKA VIRUS Transmitted by Aedes mosquitoes Can cause a mild denguefever-like illness Associated with microcephaly SEQUELAE OF MICROCEPHALY Neurologic manifestations of microcephaly can be mild or very severe 7
8 NEUROLOGIC CONDITIONS ASSOCIATED WITH MICROCEPHALY Epilepsy Drug-resistant (AKA intractable ) epilepsy is common Cerebral Palsy Developmental delays Intellectual disabilities Ophthalmologic disorders DIFFERENTIAL DIAGNOSIS Spina Bifida Plus all of the other conditions that we talked about Craniosynostosis Anencephaly WORKUP Take a thorough history! Family history Prenatal history Do a good physical exam! Measure head circumference serially Make sure to get a good ophthalmologic exam Also make sure to do a full audiological evaluation Imaging Genetic workup Infectious workup 8
9 Depends on the underlying condition Usually supportive care is offered Multispecialty care is often indicated MANAGEMENT MANAGEMENT, CONTINUED Watch out for seizures Can be very subtle staring spells or stiffening episodes (may be first noticed by the EI therapist) Refer all children with microcephaly and possible seizures to neurology Feeding issues / problems with weight gain may also warrant referral Consider sending to GI and / or nutrition Children may also need OT or SLP evaluation OUTCOMES Very variable Many children with microcephaly do very well and live healthy, normal lives Many other children need lifelong supports May depend on underlying / associated conditions Parental / family outcomes are also variable Caring for a child with microcephaly can cause parental stress / anxiety Providing comprehensive, interdisciplinary care is vital 9
10 REFERENCE Rajiv Varma, Shelley D. Williams and Henry B. Wessel Atlas of Pediatric Physical Diagnosis, 15, Neurology: Microcephaly Microcephaly. Congenital Anomalies of the Central Nervous System. Stephen L. Kinsman and Michael V. Johnston. Nelson Textbook of Pediatrics, Chapter 591, e1 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. Ashwal S, Michelson D, Plawner L, Dobyns WB, Quality Standards Subcommittee of the American Academy of Neurology, Practice Committee of the Child Neurology Society. 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 2009 Sep 15;73(11): Malformation syndromes. Oana Caluseriu and William Reardon. Rennie and Roberton s Textbook of Neonatology, 31, Kleber de Oliveira W, Cortez-Escalante J, De Oliveira WT, et al. Increase in Reported Prevalence of Microcephaly in Infants Born to Women Living in Areas with Confirmed Zika Virus Transmission During the First Trimester of Pregnancy Brazil, MMWR Morb Mortal Wkly Rep 2016;65: DOI: SURVEY & CERTIFICATE You will receive with survey from Early Intervention Training Program (eitraining@illinois.edu) Must complete unique survey to get certificate Certificate will be ed after survey completion (within 24 hours) Issues with survey or certificate, please contact us at eitraining@illinois.edu Thank you for supporting the children and families of Illinois! Let s Keep in Touch! Visit our Website EITP.education.illinois.edu Follow us on Join Our Facebook Group Early Intervention Training Program at The University of Illinois The Early Intervention Training Program at the University of Illinois The Children s Research Center 51 Gerty Drive, Room 105 Champaign, IL
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