Mikael Guzman Karlsson, MD, PhD, FAAP

Dr. Mikael Guzman Karlsson is a board-certified pediatrician and pediatric neurologist, neurodevelopmental disabilities specialist and physician-scientist with advanced training in clinical informatics. He cares for children with complex neurogenetic conditions, with particular expertise in rare disorders caused by variants in genes that regulate DNA methylation, histone modification and chromatin structure.

At Texas Children’s Hospital, Dr. Guzman Karlsson established the Neuroepigenetic & Chromatin Disorders Clinic, which provides diagnostic evaluation and longitudinal neurologic and developmental care for children with conditions including Kabuki syndrome, Rubinstein-Taybi syndrome, Koolen-de Vries syndrome, Kleefstra syndrome and Coffin-Siris syndrome. He partners with families and multidisciplinary teams to interpret complex diagnoses, provide anticipatory guidance and develop individualized care plans.

As Medical Director of Neurology Informatics, Dr. Guzman Karlsson uses electronic health records, clinical decision support, data analytics and responsible artificial intelligence to make pediatric neurologic care more timely, safer, better coordinated and more equitable. His work includes tools to expedite autism diagnosis, improve screening for social drivers of health, expand access through electronic consultations and provide clinicians with reliable, citation-linked guidance. His research bridges neuroepigenetics and clinical informatics, with a focus on rare disease phenotyping, disease registries and clinical trial readiness.

Personal Statement

I believe excellent care begins with listening carefully to children and families and understanding their goals, strengths, culture and daily lives. Families navigating developmental or rare neurologic diagnoses often face uncertainty, multiple specialists and complex decisions. I strive to offer families a clearer diagnostic path, honest communication about what is known and uncertain, and a practical care plan that reflects their priorities. I view care as a partnership among the child, family, primary care clinician, therapists, educators, genetic counselors and other specialists.

I believe good care also depends on good information. My informatics work focuses on putting reliable information in front of clinicians and families at the right moment. Technology should strengthen rather than replace the human relationships at the center of medicine, and I work to use electronic health records and responsible artificial intelligence to improve access, coordination, safety and equity. My goal is for every family to feel heard, respected and clear about the path forward.

Clinical Interests

Rare neurogenetic and neuroepigenetic disorders, neurodevelopmental disabilities, developmental delay and intellectual disability, autism spectrum disorder diagnosis and post-diagnostic care, epilepsy associated with genetic syndromes, general pediatric neurology, and pediatric-to-adult health care transition.

Applied clinical informatics, including pathology and laboratory informatics, clinical decision support, electronic health record optimization, and responsible artificial intelligence in clinical care.

Education

Organizations

Board Certifications

Honors and awards

2025

David C. Leach Award, Accreditation Council for Graduate Medical Education

2025

Academy of Resident and Fellow Educators Excellence Award, Baylor College of Medicine

2025

Data Science Challenge Finalist, Association for Diagnostics & Laboratory Medicine 

2018

President’s Diversity Champion Award, University of Alabama at Birmingham

2017

Alpha Omega Alpha Honor Medical Society

* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Research interests

Pediatric clinical neuroinformatics and electronic health record-based phenotyping for rare neurologic diseases, development and evaluation of artificial intelligence tools for clinical decision support, registry and cohort development to support clinical-trial readiness, neuroepigenetic regulation of neurodevelopment and neuronal plasticity, autism diagnostic pathways, social drivers of health, equitable access to neurologic care

Guzman-Karlsson MC, Hess LM, Jeppesen AL, Fortunov RM. Redesigning clinical decision support for retinopathy of prematurity screening after alert failure. Applied Clinical Informatics. 2025 Aug;16(4):1024-1030. doi: 10.1055/a-2594-3571. PMID: 40280548.

El Atrache R, Mizerik M, Ruiz Lopez JF, Engstrom E, Salazar KP, Guzman-Karlsson MC, Davila-Williams D, Sen S, Fisher KS, Erklauer JC. Intracranial Rhizomucor pusillus mucormycosis in an adolescent triggering a stroke alert: a case report and a systematic review of pediatric cases. Journal of Child Neurology. 2025 Sep;40(8):678-685. doi: 10.1177/08830738251334939. PMID: 40329649.

Guzman Karlsson M, Harris J. Epigenetics in neurodevelopmental disabilities. In: Ismail FY, Accardo PJ, Shapiro BK, editors. Capute and Accardo’s Neurodevelopmental Disabilities in Infancy and Childhood. 4th ed. Academic Press; 2025:55-70. doi: 10.1016/B978-0-12-824060-1.00022-5.

Meadows JP, Guzman-Karlsson MC, Phillips S, Brown JA, Strange SK, Sweatt JD, Hablitz JJ. Dynamic DNA methylation regulates neuronal intrinsic membrane excitability. Science Signaling. 2016 Aug 23;9(442):ra83. doi: 10.1126/scisignal.aaf5642. PMID: 27555660. Co-first author.

Kennedy AJ, Rahn EJ, Paulukaitis BS, Savell KE, Kordasiewicz HB, Wang J, Lewis JW, Posey J, Strange SK, Guzman-Karlsson MC, Phillips SE, Decker K, Motley ST, Swayze EE, Ecker DJ, Michael TP, Day JJ, Sweatt JD. Tcf4 regulates synaptic plasticity, DNA methylation, and memory function. Cell Reports. 2016 Sep 6;16(10):2666-2685. doi: 10.1016/j.celrep.2016.08.004. PMID: 27568567.

Meadows JP, Guzman-Karlsson MC, Phillips S, Holleman C, Posey JL, Day JJ, Hablitz JJ, Sweatt JD. DNA methylation regulates neuronal glutamatergic synaptic scaling. Science Signaling. 2015 Jun 23;8(382):ra61. doi: 10.1126/scisignal.aab0715. PMID: 26106219.

Guzman-Karlsson MC, Meadows JP, Gavin CF, Hablitz JJ, Sweatt JD. Transcriptional and epigenetic regulation of Hebbian and non-Hebbian plasticity. Neuropharmacology. 2014 May;80:3-17. doi: 10.1016/j.neuropharm.2014.01.001. PMID: 24418102.