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Abstract Details

Neurocognitive Manifestations of Individuals with NF1 Microdeletions
Child Neurology and Developmental Neurology
P14 - Poster Session 14 (11:45 AM-12:45 PM)
4-007
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome that affects 1 in 2500-3000 people. About 5-11% of NF1 patients have NF1 microdeletion syndrome, historically associated with a higher risk of intellectual disability than the NF1 population.
To describe the neurocognitive manifestations in patients with NF1 microdeletion syndromes.
We performed a retrospective study of pediatric patients with molecularly confirmed NF1 microdeletion syndrome seen in the Neurofibromatosis Clinic of the Ann & Robert H. Lurie Children’s Hospital of Chicago from 01/01/2000 to 09/01/2022. Clinical data was collected from medical records.
A total of 12 patients were identified with NF1 microdeletions. The mean age at diagnosis was 2.38 years (range 3 months to 5 years), and 58% were female. The most common deletion was type 1 (1.4-MB). Macrocephaly was present in 33% of individuals. One individual presented with a symptomatic chiasmatic optic pathway glioma. Plexiform neurofibromas were reported in 4 (33%) without any known malignant transformation. Neurodevelopmental manifestations included speech difficulties (expressive/receptive) in 8 (66%), attention-deficit/hyperactivity disorder (ADHD) in 5 (42%), gross motor delays in 4 (33%), fine motor delays in 4 (33%), and autism spectrum disorders in 3 (25%). There were 2 adults with NF1 microdeletions attending college. Other comorbidities include anxiety (6, 50%), depression (3, 25%), and sleep disturbances (5, 42%).
In this Study, NF1microdeletion patients were diagnosed at an early age. NF1 microdeletion individuals have variable neurological and neurodevelopmental manifestations which require tailored developmental interventions. Sleep difficulties appear common in this cohort in addition to other neurological manifestations. Two adults with NF1 microdeletions were in College suggesting that, at least in some individuals, the neurocognitive outcome may be better than has previously been described.
Authors/Disclosures
Jenny Paola Garzon, MD (Ann & Robert H. Lurie Children's Hospital of Chicago)
PRESENTER
Dr. Garzon has nothing to disclose.
Andrea Ruth Patete, Other Miss Patete has nothing to disclose.
Carolyn R. Serbinski, Other (Lurie Children's) Miss Serbinski has stock in Illumina.
Madison Hankins, Other (Lurie Children's of Chicago) Miss Hankins has nothing to disclose.
Michael Sawin, MD (Ann & Robert H. Lurie Children's Hospital of Chicago) The institution of Dr. Sawin has received research support from National Institute of Neurological Disorders and Stroke (NINDS).
Allison Goetsch Weisman, Other (Ann & Robert H. Lurie Children's Hospital of Chicago) Ms. Goetsch Weisman has nothing to disclose.
Katherine H. Kim, Other (Ann & Robert H Lurie Children's Hospital of Chicago) Ms. Kim has nothing to disclose.
Joel Charrow, MD (Lurie Children's Hospital) Dr. Charrow has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sanofi. Dr. Charrow has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi.
Robert Listernick, MD Dr. Listernick has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AstroZeneca. Dr. Listernick has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for White and Williams.
Carlos E. Prada, MD (Lurie Children's Hospital of Chicago) Dr. Prada has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genzyme Sanofi . Dr. Prada has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Takeda. Dr. Prada has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Sanofi Genzyme. Dr. Prada has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for America Journal of Medical Genetics. The institution of Dr. Prada has received research support from National Institute of Neurological Diseases and Stroke (NINDS). The institution of Dr. Prada has received research support from Department of Defense (DOD).