Poster Session 04 Program Schedule
02/15/2024
12:00 pm - 01:15 pm
Room: Shubert Complex (Posters 1-60)
Poster Session 04: Neuroimaging | Neurostimulation/Neuromodulation | Teleneuropsychology/Technology
Final Abstract #26
Characterizing Phenylketonuria using Digital Cognitive Assessments: The Impact of the Digit Symbol Matching Test and Tyrosine Levels
Shifali Singh, McLean Hospital | Harvard Medical School, Belmont, United States
Katelin Curtis, McLean Hospital | Harvard Medical School, Belmont, United States
Raquel Norel, Digital Health IBM Research, Yorktown Heights, United States
Category: Assessment/Psychometrics/Methods (Adult)
Keyword 1: phenylketonuria
Keyword 2: cognitive functioning
Keyword 3: computerized neuropsychological testing
Objective:
Phenylketonuria (PKU) is an incurable, chronic condition that has been associated with severe developmental and cognitive impairments. This rare genetic disorder results in the buildup of the amino acid Phenylalanine (Phe), causing a deficiency in tyrosine (Tyr), resulting in possible brain damage, intellectual disabilities, behavioral issues, and/or seizures. More specifically, patients have difficulties with executive function, verbal fluency, and processing speed. There is limited research in understanding how to minimize cognitive difficulties that impact a patient’s daily functioning. Patients with PKU frequently experience fluctuations in Phe and Tyr levels, which cognitive ecological momentary assessment (EMA) can evaluate. This study establishes whether varied Tyr levels affect cognitive functioning by observing participants’ performance on the TestMyBrain Digit Symbol Matching (TMB DSM) test.
Participants and Methods:
Twenty participants were recruited through the National PKU Alliance (NPKUA) to examine fluctuations through cognitive EMA and finger prick tests over the course of a month. The eligible participants underwent a series of 6 structured cognitive and psychological assessments conducted in an EMA framework. Prior to completing the assessments, each participant received packets provided by PerkinElmer, which included kits to self-collect a few drops of blood. These blood samples were collected on the same days as the cognitive EMAs, allowing us to track Phe, Tyr, and Phe:Tyr (ratio) blood levels. PerkinElmer also provided us with detailed information from the blood samples, including Tyr levels, to allow us to evaluate overall fluctuations in Tyr as it relates to cognition.
Results:
A comprehensive analysis was conducted to examine and compare the TMB DSM cognitive test scores with Tyr levels. The scores were taken from twenty participants; all DSM test scores were gathered and compared with the Tyr levels from the corresponding days. The results of this study revealed a significant connection between blood levels and performance outcomes on cognitive tests. Using a Pearson correlation (r=-0.26, p<0.05), we identified a significant relationship between participants’ Tyr levels and TMB DSM test scores. This indicates a direct link between the two variables; participants who achieved higher scores on the DSM test consistently had lower Tyr levels (within the optimal range).
Conclusions:
The data gathered from this study can potentially offer valuable insights to predict and understand the fluctuations in cognitive status. This information is particularly useful in diseases such as PKU, where patients often experience variability in cognitive functioning in their daily lives. This can help predict and manage cognitive efficacy, improving the overall quality of life for patients.
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