Background: Dystrophinopathy patients often exhibit a range of neuropsychiatric challenges that includes increased risk for anxiety, depression, obsessive-compulsive disorder, ADHD, and externalizing behavioral challenges. Routine assessment of such neuropsychiatric symptoms is often lacking as part of clinical care and the full breadth of symptoms is not evaluated with many of the instruments used.
Objective: This ongoing study assesses neuropsychiatric symptoms in youth with dystrophinopathy (Duchenne and Becker Muscular Dystrophy) utilizing a combination of well-established psychometric tools that aim to better characterize psychiatric symptoms in youth presenting to a multidisciplinary dystrophinopathy clinic.
Methods: Caregivers of patients completed emotional/behavioral rating scales in patient’s medical chart. Caregivers completed the 17-item short form of the Pediatric Symptom Checklist (PSC-17) to assess internalizing, externalizing, and ADHD related behavioral challenges. Caregivers also provided ratings on the obsessive-compulsive disorder scale of the parent report of the Revised Child Anxiety and Depression Scale (RCADS-P).
Results: Patients were N = 37 boys (0% female) aged 4-19 years M=12.21 (S.D 3.99). Raters were predominantly mothers 76% (22% fathers, 2% other/unknown). 59% of patients were rated as having at least one clinically elevated score and 49% were rated as having two or more clinically elevated scores. 42% of patients were rated as having elevated total scores on the PSC-17, with most frequent elevations found for internalizing (41%), followed by attention (31%) and externalizing problems (25%). Lastly, 6% of the patients were reported to exhibit significant symptoms of obsessive-compulsive disorder on the RCADS-P that were at least 1.5 standard deviation above the normative mean.
Conclusions: Elevated psychiatric symptoms were consistently found in youth with dystrophinopathy compared to normative samples. Rates of elevated symptoms in the current study mirror rates found in other dystrophinopathy studies. Both the PSC-17 and RCADS-P show promise for routine assessment of psychiatric symptoms in dystrophinopathy patients.