Neurology Commons^™

Efektivitas Massage Endorphin Untuk Mengurangi Kecemasan Pada Ibu Hamil Menjelang Persalinan, Widiya Saryani, Dini Nur Alpiah

Jurnal Fisioterapi Terapan Indonesia

Pregnancy is a biological process involving complex physiological and psychological transitions that demand high adaptability from women, especially approaching childbirth. Anxiety during the third trimester is frequently reported and is associated with increased cortisol secretion, which may negatively impact labor effectiveness. This literature review aimed to synthesize scientific evidence regarding the effectiveness of endorphin massage in reducing anxiety among pregnant women in the third trimester. The review used a systematic approach based on the PICO framework, covering studies published between 2021 and 2025. Databases such as PubMed, Google Scholar, and SINTA were used to identify quasi-experimental studies comparing endorphin massage …

Peningkatan Keterampilan Makan Pada Anak Down Syndrome Melalui Terapi Okupasi Berbasis Sensory Integration: Studi Kasus, Reza Nur Arsyi, Tambunan Seselia Thresagloria, Muhammad Luthfi, Ayleen Alicia K, Hermito Gideon

Jurnal Fisioterapi Terapan Indonesia

Children with Down Syndrome (DS) frequently experience feeding difficulties due to hypotonia, sensory processing disorder, and oromotor impairments. This case study aimed to describe the clinical reasoning and effectiveness of a sensory integration (SI)-based occupational therapy intervention in improving feeding skills in a 10-year-old child with DS. The intervention consisted of 12 structured sessions focusing on postural stability, proprioceptive awareness, fine motor control, and oromotor coordination. Evaluation tools included Sensory Profile 2 and the Functional Independence Measure (FIM). Post-intervention outcomes indicated significant improvement in spoon use, posture during mealtime, texture tolerance, and self-feeding independence. FIM scores improved from total assistance …

Efektivitas Latihan Aerobik Dalam Mengurangi Gejala Depresi: Literature Review, Putra Adytio Giriyoga, Dini Nur Alpiah

Jurnal Fisioterapi Terapan Indonesia

Depression is one of the most common mental health disorders worldwide and can significantly affect an individual's quality of life. Various treatment approaches have been implemented, with one of the most noteworthy being non-pharmacological interventions in the form of aerobic exercise. This study aims to review the effectiveness of aerobic exercise in reducing depressive symptoms. This research is a narrative literature review, in which 3,610 articles were initially identified and then filtered based on inclusion-exclusion criteria, resulting in 8 articles. After eliminating duplicates, further screening was conducted through critical appraisal. The final selection of 8 articles was reviewed. The findings …

Mechanisms Of Interventions Targeting Modifiable Factors For Dementia Risk Reduction, Anna Matton, Ruth Stephen, Makrina Daniilidou, Mariagnese Barbera, Vilma Alanko, Marcel Ballin, Jamie Ford, Katri Hemiö, Jenni Lehtisalo, Chinedu Momoh

Brain and Mind Institute

The global prevalence of dementia is increasing. With no widely available and accessible treatments to halt or reverse the progression of dementia, exploring preventative strategies is critical. Lifestyle-based interventions show promise in preventing or delaying dementia onset. However, understanding the complex and multifactorial mechanisms underlying dementia, and how interventions target these pathways, is essential for developing personalized and effective strategies. In this review, we examined the current evidence of the mediating pathways in dementia risk reduction. We focused on mechanisms investigated in single-domain interventions on physical exercise, cognitive training, diet, metabolic/cardiovascular or psycho-social risk factors in line with those combined …

Down Syndrome In Africa: Challenges, Opportunities, And Future Directions, Eimear Mcglinchey, Salina Tewolde, Amanda He, Juan Fortea, Lingani Mbakile-Mahlanza, Ayda Tefera, Emmanuel Epenge, Jason Hassenstab, Rachel Maina, Zul Merali

Brain and Mind Institute

INTRODUCTION: As life expectancy improves for people with Down syndrome (DS) in Africa, the risk of developing DS-associated Alzheimer’s disease (DSAD) will rise. There is a pressing need to plan for this emerging challenge, particularly in the context of existing health and social disparities.

METHODS: This work emerged from a pan-African collaboration, including discussions at the Brain Ageing and Dementia in Low- and Middle-Income Countries conference held in Nairobi in 2024, where stakeholders identified regional priorities for DS and dementia care.

RESULTS: Limited epidemiological, cognitive, biomarker data, delayed diagnoses, and gaps in specialized services may impact access …

Enhancing Seizure Control In Ultra-Refractory Postencephalitic Epilepsies Using Multinodal Network Neuromodulation, Subhiksha Srinivasan, Surya Suresh, Ganne Chaitanya, Manoj Saranathan, Nitin Tandon, Sandipan Pati

Faculty, Staff and Student Publications

This case series reports the formidable challenge posed by postencephalitic epilepsies, characterized by frequent drug-resistant seizures and neuropsychiatric and cognitive comorbidities. Polypharmacy is frequently required, and surgical resection may not be feasible due to multifocality. Neuromodulation therapies, including Deep Brain Stimulation (DBS) and Responsive Neurostimulation (RNS), offer a potential lifeline. In this case series, we shed light on the intricate landscape of seizure management and neuropsychiatric comorbidities in five individuals with frequent seizures (often weekly) and ultra-refractory epilepsy (defined as resistance to more than six different antiseizure medications, including failed epilepsy surgery) following catastrophic encephalitis. Four out of five patients …

Socio-Medical Factors Associated With Neurodevelopmental Disorders On The Kenyan Coast, Patricia Kipkemoi, Jeanne E. Savage, Joseph Gona, Kenneth Rimba, Martha Kombe, Paul Mwangi, Collins Kipkoech, Beatrice Mkubwa, Amina Abubakar, Charles Newton

Institute for Human Development, East Africa

Neurodevelopmental disorders (NDDs) are a group of conditions with their onset during the early developmental period and include conditions such as autism and intellectual disability. Occurrence of NDDs is thought to be determined by both genetic and environmental factors, but data on the role of environmental factors for NDD in Africa is limited. This study investigates environmental influences on NDDs in children from Kenya. This case-control study compared children with NDDs and typically developing children from two studies on the Kenyan coast. We included 172 study participants from the Kilifi Autism study and 151 from the NeuroDev study who had …

Is The Vaping Epidemic Linked To Neurologic Changes And Mental Health Diagnoses Amongst Us Adolescents?, Tracy Lin, Victoria Shwe

Rowan-Virtua Research Day

Vaping has significantly increased among U.S. adolescents, driven by the rise of e-cigarettes and flavored pods. Nicotine exposure during brain development is linked to changes in the limbic-dopaminergic system, white matter integrity, and increased risk of emotional and behavioral dysregulation. Higher rates of depression, anxiety, and suicidality are reported among adolescent users, with greater symptom severity seen in those with high vaping dependence. Though studies show correlation rather than causation, findings suggest vaping may contribute to rising mental health diagnoses. Addressing vaping’s neurological and psychological impact is critical to guiding prevention efforts, regulatory policies, and support for at-risk youth.

A Broad Examination Of Sleep Issues In Pediatric Multiple Sclerosis And Other Conditions, Chaithanya Annaluru

Rowan-Virtua Research Day

Background: Poor sleep hygiene can lead to serious health consequences, including the development of health disorders and the worsening of chronic illnesses. Poor sleep quality or duration has been linked to neurocognitive changes such as inattention and lower IQ scores. Sleep disorders are especially prevalent among pediatric patients with neurologic and neuropsychiatric conditions; for example, children with epilepsy and ADHD exhibit higher rates of parasomnias, while patients with multiple sclerosis (MS) experience REM sleep behavior disorder and insomnia more often than the general population. Additionally, co-existing obstructive sleep apnea (OSA) and epilepsy can worsen seizure control, and uncontrolled epilepsy can …

Navigating Transition To Adulthood In Epilepsy Patients: A Multidisciplinary Approach., Yinchen Song, L David Klemens, Hallie Orton, Audrey R. Kennedy, Jana E. Jones, Sucheta Joshi, Meghann Kelly

Manuscripts, Articles, Book Chapters and Other Papers

The transition from pediatric to adult healthcare systems is a critical yet complex process for individuals with epilepsy, requiring careful attention to both medical and psychosocial aspects. This review highlights best practices and strategies to facilitate effective transitions, focusing on the roles of multidisciplinary teams, communication strategies, shared decision-making, and transition readiness assessment. Key topics include early and ongoing communication, promoting patient autonomy, addressing mental health comorbidities, and implementing transition readiness assessments such as the Epilepsy Transition Readiness Assessment Questionnaire (EpiTRAQ). Additionally, the review evaluates models for transition clinics, emphasizing the importance of sustainability, collaboration, and tailored interventions. By leveraging …

Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md

Medical Student Research Symposium

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disease characterized by cerebral venous malformations leading to early damage of affected brain regions. Clinical symptoms include seizures, motor and cognitive impairment. Most SWS patients have unilateral brain involvement, and previous studies reveal substantial neurological plasticity in some of them. Some children with left-hemispheric damage demonstrate, paradoxically, preserved verbal functions and reduced nonverbal functions (a “crowding” effect), suggesting contralateral functional reorganization from damaged cortical regions. We evaluated the incidence as well as clinical and imaging correlates of such functional reorganization/crowding.

Methods: Forty-six patients (age: 2.5-24 years) with unilateral SWS underwent neurocognitive evaluations …

Alpha-Synuclein Phosphomimetic Y39e And S129d Knock-In Mice Show Cytosolic Alpha-Synuclein Localization Without Developing Neurodegeneration Or Motor Deficits, Youngdoo Kim, Bhupesh Vaidya, Joseph Mcinnes, Huda Y Zoghbi

Duncan NRI Faculty and Staff Publications

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms. Its pathological hallmarks include the accumulation of misfolded alpha-synuclein (α-Syn) in Lewy bodies and Lewy neurites. Phosphorylation of α-Syn is a prominent feature of these inclusions, but its role in disease pathogenesis remains unclear. To identify the role of α-Syn phosphorylation in synucleinopathy, we generated two Snca knock-in (KI) mouse models carrying phosphomimetic mutations at SncaY39 or SncaS129 (Snca^Y39E or Snca^S129D) which manipulated epitopes phosphorylated in the PD brain. Both Snca^Y39E and Snca^S129D KI mice displayed increased α-Syn phosphorylation, enhanced …

Long-Term Neurocognitive And Behavioral Outcomes In Survivors Of Pediatric Brain Tumors: A Systematic Review, Tori Sayers, Megan W. Szobody, Nina Mourao, Blake C. Martin, Sriya Gullapalli, Kory Punch, Tirath Patel, Murali Yallapu, Bharathi Shrikanth Gadad

Research Symposium

Background: Pediatric populations have an increased susceptibility for brain tumors and suffer from neurocognitive impairment due to the neoplasm itself, and side effect of subsequent treatments. This causes many patients to experience a subpar quality of life (QoL), affecting academic endeavors, social interaction and mental well-being. Increasing our understanding of the long-term effects associated with brain tumors and the side effects from our current treatment methodology will help us formulate better treatment protocols and improve survivors’ QoL. This review aims to investigate different long-term neurocognitive and behavioral outcomes in pediatric brain tumor survivors, as well as evaluate how various treatment …

Neurocognitive Gains Among Ugandan Children With Sickle Cell Anemia On Hydroxyurea: 18-Month Trial Interim Results, Shubaya Kasule Naggayi, Dennis Kalibbala, Vincent Mboizi, John M. Ssenkusu, Zhezhen Jin, Caterina Rosano, Deogratias Munube, Bill Wambaka, Ruth Namazzi, Robert Opoka

Paediatrics and Child Health, East Africa

Children with sickle cell anemia (SCA) frequently develop progressive neurocognitive impairment. We aimed to determine effects of hydroxyurea therapy on neurocognitive function in Ugandan children with SCA by comparing levels at enrollment to a planned 18-month interim assessment. Ugandan children (N=264) ages 3-9 years were enrolled from a SCA clinic and treated in a 30-month singlearm open-label trial with escalation to maximum tolerated dose (MTD). Primary outcome was the effects of hydroxyurea on cognition, attention and executive function, along with transcranial doppler ultrasound (TCD) blood flow velocity. Sibling controls (N=110) without SCA underwent neurocognitive testing in parallel to establish age-normalized …

A Multicenter Training And Interrater Reliability Study Of The Based Score For Infantile Epileptic Spasms Syndrome, John R Mytinger, Dara V F Albert, Shawn C Aylward, Christopher W Beatty, Sonam Bhalla, Sonal Bhatia, Guy N Brock, Micheal A Ciliberto, Purva R Choudhari, Daniel J Clark, Jennifer Madan Cohen, Theresa M Czech, Megan M Fredwall, Ernesto Gonzalez-Giraldo, Chellamani Harini, Senyene E Hunter, Amanda G Sandoval Karamian, Akshat Katyayan, Isaac Kistler, Neil Kulkarni, Virginia B Liu, Corinne Mccabe, Thomas Murray, Kerri Neville, Shital H Patel, Spriha Pavuluri, Donald J Phillips, Debopam Samanta, Deepa Sirsi, Emily M Spelbrink, Carl E Stafstrom, Maija Steenari, Danielle S Takacs, Tyler Terrill, Linh Tran, Jorge Vidaurre, Daniel W Shrey

Faculty, Staff and Students Publications

PURPOSE: The best possible outcomes in infantile epileptic spasms syndrome require electroclinical remission; however, determining electrographic remission is not straightforward. Although the determination of hypsarrhythmia has inadequate interrater reliability (IRR), the Burden of AmplitudeS and Epileptiform Discharges (BASED) score has shown promise for the reliable interictal assessment of infantile epileptic spasms syndrome. Our aim was to develop a BASED training program and assess the IRR among learners. We hypothesized moderate or better IRR for the final BASED score and the presence or absence of epileptic encephalopathy (+/-EE).

METHODS: Using a web-based application, 31 learners assessed 12 unmarked EEGs (length 1-6 …

Thalamic Deep Brain Stimulation Improves Movement In A Cerebellar Model Of Lesion-Based Status Dystonicus, Megan X Nguyen, Amanda M Brown, Tao Lin, Roy V Sillitoe, Jason S Gill

Faculty, Staff and Students Publications

Dystonia is the third most common movement disorder and an incapacitating co-morbidity in a variety of neurologic conditions. Dystonia can be caused by genetic, degenerative, idiopathic, and acquired etiologies, which are hypothesized to converge on a "dystonia network" consisting of the basal ganglia, thalamus, cerebellum, and cerebral cortex. In acquired dystonia, focal lesions to subcortical network regions lead to dystonia that can be difficult to manage with canonical treatments, including deep brain stimulation (DBS). While studies in animal models have begun to parse the contribution of individual nodes in the dystonia network, how acquired injury to the cerebellar outflow tracts …

Neuronal Network Activation Induced By Forniceal Deep Brain Stimulation In Mice, Bin Tang, Zhenyu Wu, Qi Wang, Jianrong Tang

Faculty, Staff and Students Publications

Background: The fimbria-fornix is a nerve fiber bundle that connects various structures of the limbic system in the brain and plays a key role in cognition. It has become a major target of deep brain stimulation (DBS) to treat memory impairment in both dementia patients and animal models of neurological diseases. Previously, we have reported the beneficial memory effects of chronic forniceal DBS in mouse models of intellectual disability disorders. In Rett syndrome and CDKL5 deficiency disorder models, DBS strengthens hippocampal synaptic plasticity, reduces dentate inhibitory transmission or increases adult hippocampal neurogenesis that aids memory. However, the underlying neuronal circuitry …

Comprehensive Assessment Reveals Numerous Clinical And Neurophysiological Differences Between Mecp2-Allelic Disorders, Davut Pehlivan, Chengjun Huang, Holly K Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic-Savatic, Laurence Mignon, Sukru Aras, Daniel G Glaze, Charles S Layne, Leonardo Sahelijo, Huda Y Zoghbi, Matthew J Mcginley, Bernhard Suter

Faculty, Staff and Students Publications

OBJECTIVE: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved. The aim of this study was to identify biomarkers distinguishing RTT from MDS.

MATERIALS AND METHODS: We prospectively enrolled 11 MDS and 6 male RTT like (MRL) individuals for a panel of clinical and neurophysiological assessments over two visits, 8-10 months apart.

RESULTS: We identified numerous clinical and physiological …

A Randomized, Placebo-Controlled, Cross-Over Trial Of Ketamine In Rett Syndrome, Kathleen Campbell, Jeffrey L Neul, David N Lieberman, Elizabeth Berry-Kravis, Tim A Benke, Cary Fu, Alan Percy, Bernhard Suter, David Morris, Randall L Carpenter, Eric D Marsh, Jana Von Hehn

Faculty, Staff and Students Publications

BACKGROUND: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.

DESIGN: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.

METHODS: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite …

Optimizing Decision-Making In A Cerebral Palsy Model Using Reinforcement Learning, Richard Ampah

Pitzer Senior Theses

This study presents an original interdisciplinary investigation into how reinforcement learning (RL) can model motor and cognitive defects and potentially improve motor and cognitive functions in individuals with cerebral palsy (CP), a non-progressive neurological disorder that impairs movement and adaptability. Integrating computational neuroscience and machine learning, the research applies policy gradient methods and Markov Decision Processes (MDPs) to simulate adaptive learning in agents with and without CP-related constraints.

The central aim is to compare the cumulative rewards of optimal policies, derived from value iteration, and human-like learning policies using the REINFORCE algorithm, both with and without the Bellman baseline. The …

Levetiracetam-Induced Acute Kidney Injury In A Pediatric Patient, Makaila A. Geese Pharmd Candidate, Norm Fenn Bcps, Bcpps

Parkview Pharmacy Department

Presented at PPA Meeting.

Objective: To describe a case of acute kidney injury following levetiracetam administration in an adolescent patient.

Key takeaways:

Acute kidney injury (AKI) following levetiracetam is rare, especially in pediatric patients

Kidney injury was not correlated with supratherapeutic levetiracetam concentrations

Comparative Analysis Of Aav Serotypes For Transduction Of Olfactory Sensory Neurons, Benjamin D W Belfort, Johnathan D Jia, Alexandra R Garza, Anthony M Insalaco, J P Mcginnis, Brandon T Pekarek, Joshua Ortiz-Guzman, Burak Tepe, Hu Chen, Ascent-Pd Investigators, Zhandong Liu, Benjamin R Arenkiel

Faculty, Staff and Students Publications

Olfactory sensory neurons within the nasal epithelium detect volatile odorants and relay odor information to the central nervous system. Unlike other sensory inputs, olfactory sensory neurons interface with the external environment and project their axons directly into the central nervous system. The use of adeno-associated viruses to target these neurons has garnered interest for applications in gene therapy, probing olfactory sensory neuron biology, and modeling disease. To date, there is no consensus on the optimal AAV serotype for efficient and selective transduction of olfactory sensory neurons

Occupational Therapy Using Cbt To Improve Work Productivity In Schizophrenia: A Case Study, Artha Nisa Thohiroh Triyantari, Reza Nur Arsyi, Muhammad Luthfi, Ayleen Alicia K, Hermito Gideon, Zulfa Khoirunisah, Putri Dirgantara, Purnama Betty R. Sitorus

Jurnal Fisioterapi Terapan Indonesia

Schizophrenia is a chronic mental disorder that often impairs an individual's social and occupational functioning, including productivity-related activities. Patients with schizophrenia frequently face challenges in maintaining employment or running an independent business due to cognitive and emotional disturbances affecting their adaptive skills. This single-case study integrates Cognitive Behavioral Therapy (CBT) into occupational therapy to enhance productivity in a schizophrenia patient through an entrepreneurial activity—independently opening a coffee shop. The study subject is a 50-year-old male diagnosed with schizophrenia undergoing psychosocial rehabilitation at RSJ Dr. Soeharto Heerdjan. The CBT-based intervention was designed to develop adaptive thinking patterns and occupational skills through …

Enhancement Of Functional Ability In Supraspinatus Tendinitis Using Ultrasound And Isotonic Exercise: Case Study, Tu Lidya Ike Putri, Christabelle Aurelia

Jurnal Fisioterapi Terapan Indonesia

Supraspinatus tendinitis is an inflammation of the supraspinatus tendon caused by the supraspinatus muscle tendon overlapping with the caput longus bicep tendon so that friction and repetitive pressure occur over a long period of time and result in damage to the supraspinatus muscle tendon and supraspinatus tendinitis occurs. Characterized by complaints of pain around the shoulder followed by limitation of motion in the shoulder joint. The clinical question arises "can the application of ultrasound and isotonic exercise reduce pain and functional ability improvement?". To be able to answer this question, an evidence search was conducted on 3 data bases, namely …

Perbandingan Konservatif Fisioterapi Dengan Core Stability Exercise Pada Kasus Nyeri Punggung Bawah, Angria Pradita, Nurul Halimah

Jurnal Fisioterapi Terapan Indonesia

ABSTRACT: Low back pain is a major complaint caused by multifactorial conditions. The most common factors of low back pain complaints are due to age, occupation and gender. This study aims to compare the differences in therapeutic effects of conservative physiotherapy with the provision of electrotherapy, namely; microwave diathermy combined with transcutaneous electrical nerve stimulation (TENS), core stability exercise techniques and a combination of electrotherapy with core stability exercise (CSE). This type of research is quasi experimental with a pre-post test design in a population of 90 low back pain patients who seek treatment at the Physiotherapy clinic. By using …

Effectiveness Of Using Soft Exosuit In Stroke Case To Improve Walking Speed And Endurance, Aditya Denny Pratama, Rakha Shidqi Widyadhana

Jurnal Fisioterapi Terapan Indonesia

Stroke is a clinically defined syndrome of acute, focal nerve discharge caused by vascular injury (infarction, hemorrhage) of the central nervous system. Punches can cause damage to the brain and affect a person's ability to walk, balance and coordinate movements. Impaired gait is common in stroke cases, often resulting in poor recovery of mobility and inability to carry out daily activities without assistance. One of the interventions that can be used is a soft exosuit. This method can help overcome walking problems in stroke patients where soft exosuits are used to increase walking speed and walking endurance. The purpose of …

International Workshop: What Is Needed To Ensure Outcome Measures For Rett Syndrome Are Fit-For-Purpose For Clinical Trials? June 7, 2023, Nashville, Usa, Jenny Downs, Dominique C Pichard, Walter E Kaufmann, Joseph P Horrigan, Melissa Raspa, Gillian Townend, Eric D Marsh, Helen Leonard, Kathleen Motil, Andrew C Dietz, Nupur Garg, Amitha Ananth, Breanne Byiers, Sarika Peters, Christopher Beatty, Frank Symons, Aleksandra Jacobs, James Youakim, Bernhard Suter, Paramola Santosh, Jeffrey L Neul, Tim A Benke

Faculty, Staff and Students Publications

INTRODUCTION: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

METHODS: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted. The clinical outcome assessments measured clinical severity, functional abilities, comorbidities and quality of life, and …

Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb

School of Medicine Faculty Publications

BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting. OBSERVATIONS The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms. LESSONS Unilateral hemicraniectomy with titanium cranioplasty is a feasible surgical treatment for CED in pediatric patients with medically refractory increased ICP and papilledema.

Identification Of An Early Subset Of Cerebellar Nuclei Neurons In Mice, Maryam Rahimi-Balaei, Shayan Amiri, Thomas Lamonerie, Sih-Rong Wu, Huda Y Zoghbi, G Giacomo Consalez, Daniel Goldowitz, Hassan Marzban

Duncan NRI Faculty and Staff Publications

Cerebellar nuclei (CN) neurons serve as the primary output of the cerebellum and originate from the cerebellar primordium at early stages of cerebellar development. These neurons are diverse, integrating information from the cerebellar cortex and relaying it to various brain regions. Employing various methodologies, we have characterized a specific subset of CN neurons that do not originate from the rhombic lip or ventricular zone of the cerebellar primordium. Embryos were collected at early stages of development and processed for immunohistochemistry (IHC), western blotting, in situ hybridization (ISH), embryonic culture, DiI labeling, and flow cytometry analysis (FCM). Our findings indicate that …

Brain Gray Matter Changes In Children At Risk For Sudden Unexpected Death In Epilepsy, Bhaswati Roy, Jennifer A Ogren, Luke A Allen, Beate Diehl, Raman Sankar, Samden D Lhatoo, Rajesh Kumar, Ronald M Harper

Faculty, Staff and Student Publications

Background: Potential failing adult brain sites, stratified by risk, mediating Sudden Unexpected Death in Epilepsy (SUDEP) have been described, but are unknown in children.

Methods: We examined regional brain volumes using T1-weighted MRI images in 21 children with epilepsy at high SUDEP risk and 62 healthy children, together with SUDEP risk scores, calculated from focal seizure frequency. Gray matter tissue type was partitioned, maps normalized, smoothed, and compared between groups (SPM12; ANCOVA; covariates, age, sex, and BMI). Partial correlations between regional volumes and seizure frequency were examined (SPM12, covariates, age, sex, and BMI); 67% were at high risk for SUDEP. …