Abstract Details

Title Neurocognitive Manifestations of Individuals with NF1 Microdeletions

Topic Child Neurology and Developmental Neurology

Presentation(s) P14 - Poster Session 14 (11:45 AM-12:45 PM)

Poster/Presentation
Number 4-007

Objective To describe the neurocognitive manifestations in patients with NF1 microdeletion syndromes.

Background 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.

Design/Methods 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.

Results 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%).

Conclusions 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 P. Garzon, MD (Ann & Robert H. Lurie Children's Hospital of Chicago) PRESENTER	Dr. Garzon has nothing to disclose.
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