Authors :
Presenting Author: Dana Martino, BS – Boston Children's Hospital
Alena Hornak, BA – Boston Children's Hospital
Jack O'Keeffe Donohue, MB BCH BAO – Boston Children's Hospital
Phillip Pearl, MD – Boston Children’s Hospital
Scellig Stone, MD – Boston Children's Hospital
Simon Warfield, PhD – Boston Children's Hospital
Coral Stredny, MD – Boston Children's Hospital
Alyssa Ailion, PhD, ABPP-CN – Boston Children's Hospital, Harvard Medical School
Rationale: Rasmussen Syndrome (RS) is characterized by focal epilepsy, progressive atrophy of one cerebral hemisphere, and cognitive decline affecting previously healthy school-aged children. Children with RS are at risk of cognitive decline due to atrophy of gray (GM) and white matter (WM) and altered functional networks. Socioeconomic disadvantage and steroid treatment are linked to lower volumes of GM and WM in various populations, and may heighten the risk of cognitive deficits in patients with RS. We examined total and regional volume of GM and WM and the impact of social disadvantage and steroids on brain volume and cognition in patients with RS.
Methods: We reviewed 9 presurgical and 7 post-surgical patients (total n=16) with RS who completed Neuropsychological Evaluation at Boston Children’s Hospital. Wechsler Intelligence Scale for Children, Wechsler Adult Intelligence Scale, Wechsler Preschool and Primary Scale of Intelligence and Differential Ability Scales were administered to assess IQ. Developmental Neuropsychological Assessment, and Delis-Kaplan Executive Function System measured verbal fluency. Grooved or Purdue Pegboard assessed motor skills. Whole brain T1 weighted images for each patient were pre-processed using SPM12 and voxel-based morphology compared total brain GM and WM volumes. Region of Interest (ROI) masks using the WFU Pickatlas toolbox and fslmaths provided regional GM and WM volume from the left, right cerebellum (CB) and the left, right cortex. We computed correlations between the state-level Area Deprivation Index (ADI), intervention services, cognitive measures, and brain volumes.
Results:
In the pre-op group (n=9), duration of steroid use was related to right CB WM (r=.76, p=.046) and whole CB WM (r=.85, p=.014). Lower SES was associated with worse dominant hand fine motor skills (r=.63, p=.038). Occupational therapy was associated with increased GM CB volume (r=-.55, p=.034). Left cortical GM and WM was related to VIQ scores (r=.66, p=.039; r=.66, p=.039). Left cortical GM was associated with letter fluency scores (r=.94, p=.017), WM was associated with category fluency scores (r=.892, p=.017). Right cortical WM was associated with non-verbal IQ (r=.89, p=.001). Right CB GM was associated with VIQ scores (r=.73, p=.016). Post-operatively (n=7), VIQ scores were significantly related to speech therapy services (n=5; r=.92, p=.025). Right cortical WM was significantly associated with non-verbal IQ (r=.85, p=.032). While not significant, notable trends in the post-op group were ADI and cerebellar WM/GM volumes and a strong association between left cortical WM and IQ measures.
Conclusions: Preliminary findings indicate steroid treatment, SES, and access to occupational therapy services may be associated with cortical and cerebellar volumes and corresponding cognitive and motor skills in RS patients. Reductions in right cerebellar volumes and their association with verbal IQ suggest that cortical-cerebellar networks are likely impacted and contribute to cognitive difficulties in RS. Future studies should investigate how disease progression and treatment impact cortical-cerebellar WM tracts and cognitive outcomes.
Funding: n/a