Neurology Commons^™

The Perspectives And Experiences Of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing In Continuing Pregnancies With Fetal Structural Anomalies, Lisa S Weingarten, Allison Rosenbaum, Jessica De Voest, Stephanie Galloway, Jessica L Giordano, Samantha Stover, Lauren E Westerfield, Grant Bonesteele, Kelly L Gilmore, Leandra Tolusso, Beatrix Wong, A Theresa Wittman, Daniel T Swarr, Nancy Leslie, Anthony Johnson, Ignatia B Van Den Veyver, Neeta L Vora, Rebecca G Clifton, Aaron B Caughey, Ronald J Wapner, Wendy K Chung

Duncan NRI Faculty and Staff Publications

Objective: This study evaluates an understudied perspective: the experiences of prospective parents who decline prenatal genome sequencing (pGS) for continuing pregnancies with fetal structural anomalies.

Method: We recruited a total cohort of 300 parents of 150 pregnancies who declined pGS, including 33 individuals who underwent an invasive procedure. These parents were invited to participate in a semi-structured interview between 1 and 15 months post-partum. We used Thematic Analysis to code and analyze interviews.

Results: We interviewed 22 parents of 16 pregnancies. Reasons for declining testing included risks of invasive procedures (n = 19, 86%), lack of prenatally actionable findings (n …

A Double-Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono

Department of Neurology Faculty Papers

The apolipoprotein E (APOE) gene is the strongest genetic risk factor for sporadic Alzheimer’s disease (AD), with the ε4 allele increasing risk and decreasing the average age of onset. While APOE genotyping is primarily used in research or clinical settings for patients with memory concerns, interest in disclosing APOE status to asymptomatic individuals—particularly during early adulthood—is growing. This trend is fueled by the rise of direct-to-consumer genetic testing and emerging prevention-focused clinical trials. However, ethical debates remain unresolved about the potential harms of early disclosure, including anxiety, stigma, and misunderstanding of probabilistic risk. Conversely, some argue that knowledge of APOE …

Targeting Tet3 Suppresses Group 3 Medulloblastoma Stemness And Progression Via Impairing Hypomethylation Of Otx2 Super-Enhancer, Xuan Chen, Ziwei Wang, Yan Song, Yu Su, Yahui Zhao, Jiankang Li, Wei Wang, Jiao Zhang, Craig Daniels, Xiaochong Wu, Olivier Saulnier, Yanan Wang, Fei Liu, Kaiwen Deng, Dongming Han, Zijia Liu, Meiyu Li, Liam D Hendrikse, Alexandra Rasnitsyn, Evan Y Wang, Dongyang Wang, Zhaoyang Feng, Yanong Li, Zitong Zhao, Hongyu Yuan, Youliang Sun, Yifei Jiang, Yanfeng Shi, Tao Yang, Xueling Qi, Yong Hou, Chunde Li, Yong-Qiang Liu, Yu Tian, Shuaicheng Li, Xiaoguang Qiu, Michael D Taylor, Guo Liang Li, Tao Jiang, Hailong Liu

Faculty, Staff and Students Publications

Medulloblastoma (MB), particularly Group_3 (G3-MB), remains the most aggressive subgroup due to strong stemness and therapeutic resistance. Through genome-wide DNA methylation and transcriptomic analysis of human MB samples, we identify enhancer hypomethylation as a key feature sustaining G3-MB stemness and tumor progression. Notably, hypomethylation of the Otx2 super-enhancer (SE) is a prognostic marker and potential therapeutic target for G3-MB patients. We demonstrate that disrupting Otx2 SE activity effectively reduces tumor growth in vivo, highlighting its critical role in G3-MB maintenance. TET3, recruited by OTX2, demethylates the Otx2 SE, promoting chromatin opening and sustaining tumor proliferation and stemness. To translate these …

Spectrum Of Headache Disorders In Pakistan: A Multicenter Study, Amina Javed, Shafaq Saleem, Safia Awan, Saba Zaidi, Manzoor Lakhair, Fahad Saleem, Waleed Shahzad, Ahmed Wali

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Headache disorders represent some of the most prevalent neurological conditions worldwide. While community-based

studies provide general prevalence, data on their diagnostic spectrum in specialized clinical settings in Pakistan remain

limited. The objective of this multicenter study was to evaluate the demographic distribution and spectrum of headache

disorders among patients presenting to neurological services across Pakistan.

Methods:

This cross-sectional observational study was carried out at 39 neurology centers across Pakistan, from August 2017

to December 2019. Diagnosis was made using International Classification of Headache Disorders, 3rd edition

(ICHD-3). Demographic details, and headache subtypes were compared across gender and …

Electrophysiological Localization And Prognostic Indicators In Radial Neuropathy Presenting As Wrist Drop: A Three-Year Retrospective Observational Study, Assad Ullah Khan, Muhammad Farooq, Saad Ali, Sadiq Ali Shah

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Radial neuropathy is a common cause of wrist drop, and accurate lesion localization is essential for appropriate

management and prognostication. The objective of this study was to analyze electrophysiological localization patterns

of radial nerve lesions presenting as wrist drop and to assess whether earlier referral for electrophysiological evaluation

was associated with recovery outcomes.

Methods:

This retrospective observational study was conducted at Lady Reading Hospital Peshawar, a tertiary care setting, over

a three-year period (January 2022–December 2024). Adult patients with wrist drop and electrophysiological confirmed

radial neuropathy were included. Nerve conduction studies and needle electromyography were used to …

Visual And Brainstem Evoked Potentials: A Retrospective Cross-Sectional Audit From A Tertiary Care Hospital In Pakistan, Zuha Amin Alvi, Sundus Mehtab Shafee, Zahra Talib Shah, Dureshahwar Kanwar, Sajid Hameed

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Visual and brainstem auditory evoked potentials (VEPs and BAEPs) are standard techniques for evaluating the integrity of visual and auditory pathways respectively. The objective of our audit study was to assess demographic trends,referral indications, and electrophysiological outcomes of patients undergoing VEP and BAEP testing in a tertiary care neurophysiology laboratory in Pakistan.

Methods:

A retrospective, cross-sectional audit was conducted of 952 patient records (VEP, n=219; BAEP, n=733) over a three-year period from neurophysiology laboratory of Aga Khan University Hospital. Demographic characteristics,clinical referral indications, and electrophysiological findings were collected. Standard ACNS guidelines were used for all recordings. Statistical …

Subacute Sclerosing Panencephalitis In A 24-Month-Old Child: A Rare Early Onset And Alarming Presentation, Arshad Mehmood, Javeria Raza Alvi, Sameen Qureshi, Ahmed Bilal, Shaila Ali, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal neurodegenerative disorder caused by persistent measles virus infection. Early-onset SSPE in children under five years is uncommon but often rapidly progressive. We report a 24-month-old unvaccinated male who presented with progressive myoclonic seizures, gait difficulty, and rapid neurodevelopmental regression. Electroencephalography (EEG) showed periodic generalized discharges, and CSF measles antibody titers were elevated, fulfilling modified Dyken criteria. The child was classified as stage III SSPE. Symptomatic therapy including anti-seizure medications and supportive care, along with a planned ketogenic diet, was initiated but neurological outcome remained poor. This case emphasizes the aggressive …

Challenges Of Neurological Care In A Public Sector Hospital In Pakistan, Anila Umer

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Lack Of Multidisciplinary Collaboration In Stroke Rehabilitation In Pakistan: A Call For Integrated Care Models, Etisam Wahid, Shahzad Ahmad, Nimrah Humayoon

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Corrigendum: Correction Of Second Author’S Name And Affiliation In “Chorea As A Rare Manifestation Of Neuropsychiatric Systemic Lupus Erythematosus: A Case Report”, Editor Pjns

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Blood- Borne Biomarkers: Exploring The Frontiers Of Minimally-Invasive Diagnosis Of Alzheimer’S Disease, Sidra Afzal, Minahil Fatima, Nimra Afzal

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

The Frontal Assessment Battery In Older Multilingual Kenyan Adults, Anne Njoki Gitere, Anne Nyambura, Karen Blackmon, Levi Muyela, Rachel Maina, Olivera Nesic Taylor,, Jasmit Shah, Dilraj Sokhi, Sylvia Mbugua, Samuel Gitau, Sheila Waa, Juzar Hooker, Zul Merali, Chinedu Momoh, Karen Blackmon

Brain and Mind Institute

Background: The Frontal Assessment Battery (FAB) was developed as a short (6-item) bedside assessment of executive dysfunction in older adults with suspected neurodegeneration. This study describes psychometric features of the FAB in multilingual Kenyan adults with and without clinical diagnosis of dementia.

Method: The FAB consists of six items assessing verbal abstract reasoning, lexical fluency, motor learning, and inhibitory control. The score on each item ranges from 0-3, with higher scores indicating better performance. Bilingual English-Swahili study personnel translated, blind back-translated, and applied consensus-driven cultural adaptations. FAB was then administered to 95 participants [71 cognitively unimpaired (CU) controls; 24 people …

Burden Of Neurodevelopmental Disorders In Kenyan Children, Symon Kariuki, Patricia Kipkemoi, Martha Kombe, Mary Bitta, Jacqueline Phillips Owen, Amina Abubakar, Charles Newton

Institute for Human Development, East Africa

Importance: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and intellectual disability contribute to one-tenth of the global burden of mental and neurologic disorders. The burden of NDDs is not well documented in Africa.

Objective:To assess the prevalence, risk factors, and comorbidities of NDDs in young Kenyan children.

Design, setting and participants: This cross-sectional study was conducted among children aged 6 to 9 years residing in the Kilifi Health and Demographic Surveillance System in Kenya. In stage I of the study, children were screened for NDDs from March 16, 2015, to September 14, 2016; those …

Neurology Residency Training In Pakistan: Current Status And Future, Bashir Soomro

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Alarming Rate Of Hemorrhagic Stroke Showing An Urgent Need For Hypertension Control: A Retrospective Study From A Major Stroke Center In Sindh, Sana Ghous, Muhammad Hashim Kalwar, Muhammad Hassan Butt, Irfan Ali Vighio, Mehfooz Ali Shah, Javed Khurshed Shaikh, Mansoor Hassan

Pakistan Journal of Neurological Sciences (PJNS)

Background and Objective:

Hemorrhagic stroke accounts for approximately 18–20% of the global stroke burden and is associated with high mortality and disability. It poses a significant challenge in low- and middle-income countries, where delayed presentation and inadequate risk factor control worsen outcomes. Hypertension remains the most important modifiable risk factor, particularly when poorly controlled. The objective of this study was to investigate the incidence of hemorrhagic stroke at a major stroke center and its association with uncontrolled hypertension.

Methods:

This retrospective study was conducted at Sindh institute of cardiovascular diseases (SICVD) Sukkur over three months, from May to July 2024. …

Cultural Adaptation Of An Innovative Reproductive Health Assessment Tool For Dementia Research In Africa: Insights From The Fember-Africa Study, Alice Moraa Ondieki, Anne Njogu, Cynthia I Sabel Smith, Edna Bosire, Karen Blackmon, Harrison Kaleli, Jasmit Shah, Rachel Maina, Sheila Waa, Chinedu Momoh

Brain and Mind Institute

Background: Dementia research accounts for only 0.1% of all research in Africa,making it the lowest among all low- and middle-income country (LMIC) regions. Thedevelopment and adaptation of biological and psychosocial measures in ethnicallyand culturally diverse populations remain limited but are essential for culturallyinformed research. This is particularly critical for examining sex- and gender-basedvulnerabilities to Alzheimer’s disease and related dementias (ADRD), including factorssuch as reproductive health and fertility.

Method: We conducted a thorough review of our clinical and health questionnaires forcultural relevance and sensitivity through a series (n = 3) of focus groups discussions.These focus groups included a diverse range of …

Understanding And Willingness To Participate In Dementia Clinical Trials In Kenya: An Ethnographic Study, Edna Bosire, Lucy Kamau, Chinedu Momoh, Jasmit Shah, Karen Blackmon, Caroline Kiio, Irene Meier, Vaibhav Narayan, Olivera Nesic Taylor,, Zul Merali

Brain and Mind Institute

Background: Advancements in dementia research are in part contingent on participation in clinical research. Clinical trials can help researchers determine if new drugs, devices, or diagnostic procedures for dementia are safe and effective. However, little is known about clinical trials for dementia in resource constrained settings such as Kenya. The aim of our research was to explore people’s understanding of dementia clinical trials, their attitudes and perceptions towards dementia clinical trials and what can be done to enhance enrollments on such clinical trials.

Method: This was an ethnographic study involving 8 focused group discussions (FGDs; age and gender stratified; n=81) …

A Retrospective Analysis Of Relapse Rates And Medication Compliance In Bipolar I And Bipolar Ii Disorders: A Comparative Study, Nasir Mehmood, Qudsia Tariq

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective:

Bipolar disorder is a chronic, serious mental health condition characterized by mood episodes, and medication non-compliance is a significant predictor of relapse. The objective of this study was to investigate the relapse rates and medication compliance in patients with bipolar I and II disorders.

Methods:

This retrospective observational study was conducted at Karwan-e-Hayat Institute for Mental Health Care, Karachi, Pakistan. Medical records of 377 patients diagnosed with bipolar I or bipolar II disorder between July 2019 and June 2022 were retrieved from the Hospital Management System (HMS). Diagnosis was confirmed using DSM-IV criteria. Medication compliance was assessed …

From Molecules To Models: A Holistic Review Of Autism Spectrum Disorder Mechanisms And Research Tools, Sriya Gullapalli, Lois Baldado, Megan W. Szobody, Anesu K. Murambadoro, Kevin Garcia Valdez, Arjun Bellamkonda, Daniela Gonzalez, Usman Ghumman, Nikhilesh Anand, Kelsey A. Potter-Baker, Bharathi Gadad

School of Medicine Publications

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. These features are associated with atypical early brain development and connectivity. While ASD has been traditionally associated with molecular genetic alterations, recent research highlights the significant contribution of various environmental factors to the pathophysiology of the disorder. Pathogenic genetic variations in key regulatory genes remain central to ASD risk; however, environmental influences such as advanced maternal or paternal age, poor maternal health during pregnancy, gestational diabetes mellitus, alterations in the early-life …

A Transdiagnostic, Multi-Modal Approach To Understanding Apathy: Methodological And Analytical Framework, Yunglin Gazes, Hideo Suzuki, Lee-Anne Morris, Seonjoo Lee, Zekai Jin, Edward D Huey, Bryan B Chen, Campbell Le Heron, Sarah R Heibronner, Nora Vanegas-Arroyave

Faculty, Staff and Students Publications

Apathy is characterized by loss of motivation and manifests as a reduction of goal-directed behavior. Apathy is highly prevalent across neurodegenerative diseases, including Alzheimer's Disease (AD) and Parkinson's Disease (PD), and is an important contributor to the disability and reduce quality of life in these conditions. The treatment of apathy remains challenging due to a lack of specific therapies, largely attributed to an incomplete understanding of its cognitive and neuroanatomical underpinnings, crucial for developing targeted interventions. Apathy can be mechanistically studied through effort-based decision-making (EBDM) paradigms, where individuals choose between low- and high-effort tasks for varying reward magnitudes. Anatomically, apathy …