Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

Abstract

There are few well-validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PTEN hamartoma tumor syndrome (PHTS) and other neurodevelopmental genetic syndromes (NDGS). As potential therapeutics

Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes

“…Table 1 presents sample characteristics. Findings were highly consistent with findings in our recent survey validation study (Frazier et al, 2023). Specifically, participants were younger in the NFIX and SYNGAP1 groups and older in the PHTS and idiopathic NDD groups, with high rates of spousal informants in the latter groups.…”

“…The process involved both cliniciansscientists and families and was undertaken to provide a preliminary validation of these patient performance measures by examining a range of key psychometric characteristics. Results suggest that these measures a promising new objective evaluation tools that can be useful complements to our recently validated informant-report survey scales (Frazier et al, 2023), permitting multi-method characterization of key social and cognitive characteristics among individuals with NGDS. To our knowledge, the webcam measures and associated survey instruments are the first dedicated set specifically developed to assess a wide range of neurobehavioral and neurodevelopmental Finally, the present results provide preliminary evidence of concurrent (known-groups) validity of webcam measures across NDGS and in comparison to neurotypical controls and idiopathic NDD.…”

“…Parent/caregiver informants first completed a demographic and clinical information questionnaire followed by 11 neurobehavioral evaluation tool (NET) survey scales (Frazier et al, 2023). These survey scales included six measures of symptoms/problems (anxiety, attention-deficit/hyperactivity disorder, restricted/repetitive behavior, challenging behavior, mood, and sleep problems) and five measures of skills/ functioning (motor skills, daily living skills, social communication/ interaction skills, executive functioning, and quality of life).…”

“…Webcam-collected measures were developed in conjunction with clinician-scientist experts, patients, and parents/caregivers, following gold-standard principles of measure development (Boateng et al, 2018) and inclusive practices (FDA, 2009), to complement our recently developed and validated informant-report survey scales (Frazier et al, 2023). Individual paradigms were created to be brief (3-4 min) and to require only spontaneous or directed gaze, without motor or speech responses, thus making it appropriate for a wide range of developmental and cognitive levels.…”

“…Initial evaluation included estimation of scale reliability, test-retest reproducibility (1-month follow-up), and stability (4-month follow-up). Initial convergent and discriminant validity was assessed using data from other informant(parent)-reported clinical information (Frazier et al, 2023). In addition, given the importance of detecting autism within NDGS to ensure access to appropriate services, concurrent validity with ASD diagnoses and autism symptom levels was evaluated.…”