NFS-29. DEVELOPMENTAL SCREENING AND MONITORING IN NEUROFIBROMATOSIS-1

Abstract

Abstract BACKGROUND Pilot data showed developmental screening at Neurofibromatosis-1 (NF1) appointments is feasible to identify those needing neuropsychology or other referrals. Outcomes for this larger sample, many re-screened and/or seen for a neuropsychology visit, allow us to describe evolving clinical management. METHODS Screenings are offered annually (ages 2-17) at NF1 clinic appointments by the psychosocial team. Forty-eight early childhood patients (ages 2-5) were screened (54% male, 66.7% White,) while 35 were ineligible (e.g., recent neuropsychology visit) or experienced logistical barriers to screening. These groups did not differ in race/ethnicity, sex, glioma status, or childhood opportunity index. Parents completed well-validated measures including the PEDS: Developmental Milestones – Assessment Level (PEDS:DM), Modified Checklist for Autism in Toddlers, and/or an ADHD Rating for preschoolers. RESULTS On initial screens, 73.9% showed a delay of 25% or more on at least one PEDS:DM domain. Measures often aligned with clinical impressions (81.3%); however, when findings were contextualized with record review, there were false positives (8.3%) and negatives (10.4%). Screening identified emerging concerns in attention, fine-motor, and academic skills. Nearly half (47.9%) of patients had services at the time of screening, and new/modified recommendations were offered for 70.8%. One third were referred to our Education Coordinator or Social Worker for educational advocacy, support through Early Intervention/school evaluation, or outpatient referrals. Twenty-two (45.8%) were referred to Neuropsychology and 18 have now been seen (consultation, targeted testing, or comprehensive evaluation) to confirm or rule-out neurodevelopmental diagnoses (e.g., autism, ADHD, language or global delay) and further guide educational or intervention management. Follow-up screens (N = 21) have monitored developmental progress, previously subclinical symptoms rising to a significant level, and need for re-evaluation or additional services. CONCLUSIONS Multipronged systematic screening results in referrals for diagnostic clarity, guides transition from Early Intervention to school services, and supports dynamic management of changing concerns.