Assessment of Cognitive and Learning Challenges in Patients with Dystrophinopathy Via Parent Ratings of Learning and Executive Functioning Challenges


Translational Research

Poster Number: 162


Rachel Bearden, BA, University of Arkansas for Medical Sciences, Madeleine Flegal, Undergraduate, Hendrix College, Brett Haley, Arkansas Children's Research Institute, Kindann Fawcett, PhD, University of Arkansas Medical School, Aravindhan Veerapandiyan, MD, University of Arkansas for Medical Sciences, Seth Sorensen, PhD, University of Arkansas Medical School

Background: Providers are increasingly aware of neurobehavioral cognitive and learning challenges within dystrophinopathy patients, yet, even still, barriers remain within assessment of Duchenne and Becker Muscular Dystrophy (DBMD) patients in routine clinical care. The use of parent report ratings to screen for cognitive learning challenges may help guide tertiary levels of clinical evaluation and treatment.

Objective: The current study assesses neurocognitive and learning challenges in youth with DBMD at a multidisciplinary dystrophinopathy clinic through utilizing multiple psychometric parent report measures of cognitive/learning challenges.

?Methods: During routine clinical care and a prospective multidisciplinary clinical research study, caregivers of DBMD patients completed rating scales; The Barkley Deficits in Executive Functioning Scale short parent report measure (BDEFS-CA Short Form) was conducted to assess executive functioning (EF) challenges, and the Colorado Learning Difficulties Questionnaire (CLDQ) to assess cognitive learning-related challenges.

Results: Patients were N = 36 boys aged 6-19 (M=12.21; SD 3.99). Compared to well-established normative values on the BDEFS-CA, 42%-47% of patients were rated as having clinically elevated (at least 1 standard deviation above mean) EF deficits for total symptom count and summary score, respectively. The largest area of deficit rated by caregivers on the CLDQ was reading (59%), followed by social cognition (53%), social isolation (53%), spatial disorganization (47%), and mathematics (35%). Moderate to large positive correlations were found between BDEFS total summary score with CLDQ social cognition r(34)=.69,p<.001, spatial disorganization, r(34)=.58, p<.001, social isolation r(34)=.47, p=.006, and reading r(34)=.384, p=.03.

Conclusions: Parent ratings of EF/learning revealed high rates of cognitive learning challenges in DBMD patients compared to normative samples. EF ratings were moderately to strongly related to ratings of academic and social functioning, but not significantly related to mathematics skills.