Microcephaly: Developmental Implications in Birth-3

2/28/2017

Early Intervention Training Program at the University of Illinois at Urbana‐Champaign presents Microcephaly: Developmental Implications in Birth-3

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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 email from complete survey to [email protected] receive certificate AFTER the webinar

If you joined as a group, each individual will need to complete the unique survey for credit

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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?

• Head circumference more than 3 standard deviations below the Definition mean for age, gender, and conceptual age.

WHAT IS MICROCEPHALY?

• Head circumference more than 3 standard deviations Definition below the mean for age, gender, and conceptual age.

• Premature suture closure (craniosynostosis) Causes • Impaired brain growth (most common cause)

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MICROCEPHALY CLASSIFICATION

Primary Secondary

What types of genetic disorders result in primary microcephaly?

PRIMARY MICROCEPHALY • Noted at birth

• 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

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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

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PRIMARY MICROCEPHALY, CONTINUED

Down Edward Cri-du- (trisomy 21) (trisomy 18) chat (5 p-)

Cornelia Rubinstein- Smith- de Lange Taybi 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

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SECONDARY MICROCEPHALY, CONTINUED

Genetic conditions that are associated with secondary microcephaly

Mitochondrial Menkes Rett disorders disease syndrome

Congenital Congenital Glucose Peroxisomal disorders of Organic disorder of transporter disorder amino acid academia glycosylation defect metabolism

Nijmegen Aicardi– Ataxia Cohen Cockayne breakage Goutières telangiectasia syndrome syndrome syndrome syndrome

SECONDARY MICROCEPHALY, CONTINUED

Toxins Injuries Other

• Alcohol • Traumatic brain injury • Malnutrition •Hydantoin • Ischemic stroke • Maternal diabetes •Lead • Hemorrhagic stroke mellitus •Radiation •Hypoxic-ischemic •Maternal encephalopathy hyperphenylalaninemia • Meningitis / encephalitis • 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

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MICROCEPHALY EPIDEMIOLOGY

• 2-12 / 100,000 live births

• Recently there has been an increase in prevalence in Brazil that is attributed to Zika Virus

ZIKA VIRUS A member of the Flaviviridae virus family

Transmitted by Aedes mosquitoes

Can cause a mild dengue- fever-like illness

Associated with microcephaly

SEQUELAE OF MICROCEPHALY

Neurologic manifestations of microcephaly can be mild or very severe

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NEUROLOGIC CONDITIONS ASSOCIATED WITH MICROCEPHALY

Epilepsy •Drug-resistant (AKA Developmental Cerebral Palsy “intractable”) delays epilepsy is common

Intellectual Ophthalmologic disabilities disorders

DIFFERENTIAL DIAGNOSIS

Plus all of the other conditions that we Spina Bifida talked about

Cranio- synostosis

Anencephaly

WORKUP

Take a thorough history! Imaging • Family history • Prenatal history Do a good physical exam! Genetic workup • Measure head circumference serially • Make sure to get a good ophthalmologic exam Infectious workup • Also make sure to do a full audiological evaluation

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MANAGEMENT • Depends on the underlying condition

• Usually “supportive care” is offered

• Multispecialty care is often indicated

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

Parental / family outcomes Very variable are also variable •Many children with •Caring for a child with microcephaly do very well microcephaly can cause and live healthy, normal parental stress / anxiety lives •Providing comprehensive, •Many other children need interdisciplinary care is lifelong supports vital •May depend on underlying / associated conditions

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REFERENCE

• Rajiv Varma, Shelley D. Williams and Henry B. Wessel Atlas of Pediatric Physical Diagnosis, 15, 585-616 “Neurology: Microcephaly”

• Microcephaly. Congenital Anomalies of the Central Nervous System. Stephen L. Kinsman and Michael V. Johnston. Nelson Textbook of Pediatrics, Chapter 591, 2802-2819.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):887-97.

• Malformation syndromes. Oana Caluseriu and William Reardon. Rennie and Roberton’s Textbook of Neonatology, 31, 791-817

• 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, 2015. MMWR Morb Mortal Wkly Rep 2016;65:242–247. DOI: http://dx.doi.org/10.15585/mmwr.mm6509e2

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Certificate will be emailed after survey completion (within 24 hours)

Issues with survey or certificate, please contact us at [email protected]

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