Neurology

The division continued to expand its services in 2020, welcoming Lila Worden, MD, a new faculty member who is working with the Epilepsy Center to further develop the ketogenic diet program, and Mr. Niall Mitchell, APRN, who was hired to support the EEG monitoring unit and the epilepsy service. The Epilepsy Center continued to collaborate with the Division of Neurosurgery to further develop the epilepsy surgery program. The neuromuscular service continued to perform gene therapy on infants with spinal muscular atrophy (SMA) and has already treated the first SMA patient screened by the neonatal screening program. Jennifer Madan Cohen, MD, continues to serve as medical director of the Neurology division. Division member Elizabeth Ng, MD, began a neuromuscular fellowship program at the Hospital for Special Surgery and will be absent for most of 2021.

The Neurology Division evaluates and treats pediatric patients with all types of neurological diseases including headaches, epilepsy, neurocutaneous, neurodevelopmental and other neurogenetic disorders and diseases, cerebral palsy, nerve and muscle diseases, movement disorders, and neuroimmunology conditions. Epilepsy patients receive comprehensive care in the Epilepsy Center directed by Dr. Madan Cohen. The treatment options include ketogenic diet and epilepsy surgery in collaboration with the Neurosurgery division. Mark Schomer, MD, is conducting electrophysiology research on epilepsies and collaborates with UConn Storrs. The Autism Genetic Research Program, led by Louisa Kalsner, MD, continues to enroll established autistic patients for genetic studies. William Graf, MD, diagnoses and follows patients with neurodevelopment conditions and also serves on the bioethics committees of both the American Academy of Neurology and the Child Neurology Society. Francis DiMario, MD, directs the Neurogenetics Clinic, which is focused on the evaluation and care of patients with neurocutaneous disorders. This clinic is recognized by the TS Alliance (TSA) as a specialty care clinic that provides advanced treatment for patients with tuberous sclerosis complex (TSC) and is also recognized by the Children’s Tumor Foundation as part of the Neurofibromatosis Clinic Network (NFCN). The Neuromuscular Disease program, led by division chief Gyula Acsadi, MD, is one of the few pediatric Center of Excellence sites for pediatric CharcotMarie-Tooth disease as part of the Inherited Neuropathy Consortium supported by the National Institutes of Health (NIH) Rare Diseases Research Center and the Muscular Dystrophy Association (MDA). The center’s clinicians collaborate with Sylvia Õunpuu, MSc, of the Center for Motion Analysis (CMA), and Kristan Pierz, MD, of Orthopaedics. The neuromuscular program also has received designation as an SMA Care and Treatment Center by the “Cure SMA” organization. In collaboration with the Center of Procedural Excellence, this activity includes intrathecal administration of a drug to treat SMA. Dina Conley, APRN, and Richard Young, MD, are active in the headache and concussion treatment program.

The division members have presented their work at numerous national and international conferences remotely. We have been involved in several clinical trials for tuberous sclerosis, autism, epilepsy, muscular dystrophy, and spinal muscular atrophy.

Dr. Madan Cohen was made a member of the American Epilepsy Society EEG Committee.

Dr. DiMario is the American Academy of Neurology (AAN) and Child Neurology Society (CNS) representative on the Infectious Diseases Society of America’s Clinical Practice Guideline Panel for Lyme Disease.

AWARDS & HONORS

Dr. Madan Cohen was the recipient of a 2019 Didactics Teaching Award from the University of Connecticut School of Medicine Pediatrics Residency Program. Dr. Young was the recipient of the 2019 Didactics Teaching Award for Excellence in Resident Teaching. His topic was “Diagnosis and Management of Progressive Neurological Disorders of Childhood.” The award is bestowed by the University of Connecticut’s Department of Pediatrics.

PUBLICATIONS

Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Neurology. 2020 Mar 3;94(9):e884-e896.

Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, et al. Medical management of muscle weakness in Duchenne muscular dystrophy. PLoS One. 2020 Oct 19;15(10):e0240687.

Õunpuu S, Pierz KA, Acsadi G, Wren TAL. Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2020 Oct;30(10):825-832.

Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S. Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults. Gait Posture. 2020 Mar;77: 236-242.

Graf WD, Shprintzen RJ. “Retrofitting” established genetic disorders and diseases through big data and phenomics. Neurol Clin Pract. 2020 Oct;10(5):375-376. doi: 10.1212/CPJ.0000000000000784.

Russell JA, Epstein LG, Bonnie RJ, Conwit R, Graf WD, Kirschen M, et al; Ethics, Law, and Humanities Committee (a joint committee of the AAN, ANA, and CNS). In defense of the AAN position on lawful physicianhastened death. Neurology. 2020 Mar 16. pii:10.1212/ WNL.0000000000009237.

Graf WD. Beyond autism: advocacy for neurodevelopmental differences. Am J Bioeth. 2020;20(4):30-33. doi: 10.1080/15265161.2020. 1730503. Epub 24 Mar 2020. PMID: 32223626.

Graf WD, Epstein LG, Pearl PL. Practical bioethics during the exceptional circumstances of a pandemic.

Pediatr Neurol. 2020 Apr 22;S0887-8994(20)301417. doi:10.1016/j.pediatrneurol.2020.04.011. PMID: 32381278.

Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, et al., (Graf WD, 17/50), Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis and treatment suggestions. J Inherit Metab Dis. 2020 Jul 18. doi: 10.1002/jimd.12290. Online ahead of print. PMID: 32681751.

Zahra Q, Çakmak Ç, Koprulu M, Shuaib M, Sobreira N, Kalsner L, et al. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. J Hum Genet. 2020 Jul 31. doi: 10.1038/s10038-020-0812-0. PMID: 32737394. Slavotinek A, van Hagen JM, Kalsner L, Pai S, DavisKeppen L, Ohden L, et al. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet. 2020 Apr;63(4):103850. PMID: 31954878.

Worden LT, Abend NS, Bergqvist AGC. Ketogenic diet treatment of children in the intensive care unit: safety, tolerability, and effectiveness. Seizure. 2020 Aug; 80:242-248. doi:10.1016/j.seizure.2020.07.003. Epub 2020 Jul 13. PMID: 32674044.

Skora CE, Worden LT, Oakley CB. Comprehensive migraine initiative in the pediatric emergency department improves treatment outcomes. J Child Neurol. 2020 Mar;35(3):235-241. doi: 10.1177/0883073819889711. Epub 2019 Dec 5. PMID: 31805806.

BOOK CHAPTERS

DiMario FJ. Tuberous sclerosis complex. [revision and update] In: E-Pocrates. London, England: BMJ; 2020 Jul.

DiMario FJ. Tuberous sclerosis complex. In: Harper’s textbook of pediatric dermatology. 4th ed. 2020.

STAFF

Gyula Acsadi, MD, PhD, FAAN, Division Chief Francis J. DiMario, Jr, MD William D. Graf, MD, FAAN Louisa Kalsner, MD Jennifer Madan Cohen, MD Elizabeth A. Ng, MD, FAAN Mark Schomer, MD Lila Worden, MD William Yorns, DO Richard Young, MD Edwin Zalneraitis, MD Constandina Conley, APRN