Variability in Neuropsychological Phenotypes in Patients with 22Q11.2 Deletion Syndrome: Case Series.

Children with 22q11.2 deletion syndrome (22q11.2DS) have diverse neurodevelopmental and mental health profiles involving cognitive impairments and behavioral symptomatology that evolve over the lifespan. 22q11.2DS is the second-most common cause of developmental delay in children. Frequent physical manifestations include impact to skeletal, cardiac, immunological, respiratory, renal, auditory, and gastrointestinal systems. Neuropsychological impact ranges from early developmental delay to learning disabilities to more global intellectual disability. This population is also at higher risk for psychiatric conditions including Attention Deficit Hyperactivity Disorder, Anxiety Disorder, Bipolar Disorder and early Schizophrenia. The present case series relays cross-sectional findings from a 3-year -old Black/Non-Hispanic male, a 5-year -old White/Hispanic/Latina female, and an 8-year -old White/Hispanic/Latina female, diagnosed with 22q11.2DS via whole exome sequencing. Based on the referral question, various components of intellectual, attention/executive, memory, language, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning were examined across cases. Results revealed cognitive scores that ranged from exceptionally low to below average, consistent with the variability in cognitive functioning documented in the literature. Their neurodevelopmental and mental health symptoms appear to be consistent with time points reported in the literature including Autism Spectrum Disorder in the youngest patient and elevated levels of anxiety and internalizing behaviors in the oldest patient, placing that patient at a greater risk for further psychiatric difficulties. Therefore, longitudinal documentation of linkages between clinical neuropsychological presentations and specific genetic characteristics in 22q11.2DS is warranted to identify consistent developmental differences across the lifespan.

Prolonged exposure therapy for PTSD among spinal cord injury survivors: Study protocol for a randomized controlled trial.

The National Spinal Cord Injury Statistical Center estimates 294,000 people in the US live with a spinal cord injury (SCI), with approximately 17,810 new cases each year. Although the physical outcomes associated with SCI have been widely studied, the psychological consequences of sustaining a SCI remain largely unexplored. Scant research has focused on posttraumatic stress disorder (PTSD) in this population, despite prevalence estimates suggesting that up to 60% of individuals with SCI experience PTSD post-injury, compared to only 7% of the general US population. Fortunately, prolonged exposure therapy (PE) is a well-researched and highly effective treatment for PTSD. However, no trauma focused exposure-based therapy for PTSD (e.g. PE) has not yet been tested in a SCI population. Thus, we aim to conduct the first test of an evidence-based intervention for PTSD among patients with SCI. Adults with SCI and PTSD (N = 60) will be randomly assigned to either: (1) 12-sessions of PE (2-3 sessions per week) or (2) a treatment as usual (TAU) control group who will receive the standard inpatient rehabilitation care for SCI patients. Primary outcomes will be assessed at 0, 6, 10, and 32 weeks.