Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma.

A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelopmental or psychiatric symptoms in some patients, there is also a nontrivial prevalence of PFAC in the asymptomatic population and a significant possibility that many PFAC are incidental findings in the context of primary cognitive or psychiatric symptoms. Our functional MRI analysis is the first to examine brain function, and to report cerebellar dysfunction, in a patient presenting with cognitive/psychiatric symptoms found to have a structural abnormality compressing the cerebellum. These neuroimaging findings are inherently limited due to their correlational nature but provide unprecedented evidence suggesting that cerebellar compression may be associated with cerebellar dysfunction. Exome gene sequencing revealed additional etiological possibilities, highlighting the complexity of this field of cerebellar clinical and scientific practice. Our findings and discussion may guide future investigations addressing an important knowledge gap-namely, is there a link between cerebellar compression (including arachnoid cysts and possibly other forms of cerebellar compression such as Chiari malformation), cerebellar dysfunction (including fMRI abnormalities reported here), and neuropsychiatric symptoms?

Prediction as a humanitarian and pragmatic contribution from human cognitive neuroscience.

Neuroimaging has greatly enhanced the cognitive neuroscience understanding of the human brain and its variation across individuals (neurodiversity) in both health and disease. Such progress has not yet, however, propelled changes in educational or medical practices that improve people's lives. We review neuroimaging findings in which initial brain measures (neuromarkers) are correlated with or predict future education, learning, and performance in children and adults; criminality; health-related behaviors; and responses to pharmacological or behavioral treatments. Neuromarkers often provide better predictions (neuroprognosis), alone or in combination with other measures, than traditional behavioral measures. With further advances in study designs and analyses, neuromarkers may offer opportunities to personalize educational and clinical practices that lead to better outcomes for people.

Cine magnetic resonance imaging with simultaneous audio to evaluate pediatric velopharyngeal insufficiency.

OBJECTIVE: To develop a protocol linking cine magnetic resonance (MR) imaging to simultaneously acquired audio recordings of specific phonatory tasks to evaluate velopharyngeal insufficiency (VPI) in children. DESIGN: Institutional review board-approved development and application of a novel dynamic cine MR imaging protocol linked to simultaneously recorded audio. SETTING: A tertiary care multidisciplinary pediatric airway center. PARTICIPANTS: Three healthy adult volunteers and 5 pediatric volunteers (age range, 9.3-18.9 years; mean age, 12.4 years) from the multidisciplinary pediatric airway center with VPI who previously had undergone nasopharyngoscopy, videofluoroscopy, or both. INTERVENTIONS: Cine MR imaging with simultaneously acquired audio files was performed in 3 adult volunteers to optimize the protocol and then in 5 pediatric volunteers meeting the inclusion criteria. MAIN OUTCOME MEASURES: High-resolution cine MR images with clear intelligible audio recordings of specific phonatory tasks. RESULTS: Using 3 healthy adult volunteers, a cine MR imaging VPI protocol was developed that links simultaneously acquired cine MR images to audio recordings of specific validated phonatory tasks. Five school-aged children with VPI from our multidisciplinary pediatric airway center were then enrolled and underwent cine MR imaging using this protocol. The cine MR images and audio recordings acquired were of sufficient diagnostic quality to evaluate VPI closure patterns in school-aged children with VPI. CONCLUSION: Cine MR imaging linked to audio is a quick, safe, and well-tolerated dynamic diagnostic imaging tool that may eventually have the potential to guide more precisely the selection and application of surgical techniques for VPI.