Digital Commons Network^™

Therapeutic Efficacy Of A Potent Anti-Venezuelan Equine Encephalitis Virus Antibody Is Contingent On Fc Effector Functionslc6a1 Variant Pathogenicity, Molecular Function And Phenotype: A Genetic And Clinical Analysis, Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene Van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal

Student and Faculty Publications

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making.

We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.1% lp/p). Clinical and functional data were available for a subset of 126 individuals. We explored the potential associations of variant positions on the GAT1 3D structure with variant pathogenicity, altered molecular function and phenotype severity using bioinformatic approaches.

The GAT1 transmembrane domains …

Exploration Of Occupational Therapy Practice For Children With Autism Spectrum Disorders In The Dominican Republic, Katherine Lally, Michelle Messer, Vanessa D. Jewell

The Open Journal of Occupational Therapy

Background: To better understand the current practice trends of ASD treatment globally and promote practitioner collaboration, it is important to complete studies in countries where little is known about the diagnosis and treatment of ASD through an occupational lens. The aim of this study was to gain an insight into how occupational therapists in the Dominican Republic evaluate and treat children diagnosed with ASD.

Method: This qualitative descriptive study explored the perception of occupational therapists (n = 6) and caregivers of children with ASD (n = 28) through a questionnaire and focus group. Interview transcripts and questionnaire text …

Connected Rhythm: A Scoping Review Of Therapeutic Drumming As An Intervention For Autistic Individuals, Zahava L. Friedman, Jorge Ochoa, Dina Prisco, Francine M. Seruya

The Open Journal of Occupational Therapy

Background: Autism Spectrum Disorder (ASD) is a neurologically-based developmental disorder representing a subdomain of neurodivergence. Occupational therapy intervention for ASD typically incorporates sensory modalities, addressing a multitude of challenges, including mental health outcomes. This scoping review analyzes available evidence of the sensory-based intervention of therapeutic drumming (TD) to improve mental health in autistic clients.

Method: Following the Johanna Briggs methodological framework, Proquest, Ebsco, Scopus and OTseeker databases were searched with the key and related words of “autism,” “therapeutic drumming,” and “mental health,” yielding 448 articles. After removal of duplicates and application of inclusion criteria, seventeen articles were included …

Exploring The Use Of Ecological Momentary Assessment Within A Telehealth Intervention For Families Of Children With Autism, Anna Wallisch, Lauren Little, Allison Wainer, Winnie Dunn

The Open Journal of Occupational Therapy

Background. The purpose of this study was to explore the use of ecological momentary assessment (EMA) to measure parent self-efficacy and stress throughout a 9-week occupation-based coaching telehealth intervention for families of children with autism spectrum disorders (ASD).

Methods. The participants included seven families of children with ASD 2 to 6 years of age. The parents were sent emails to gather EMA measures weekly during the intervention. We used percentages to examine response rates to EMA surveys and a mixed-model regression to examine changes in parent-self efficacy and stress during the intervention.

Results. The parents responded to …

Advocating And Educating The Role Of Occupational Therapy For Adaptive Swim Lessons Among Children With Autism, Charlotte Leonard, Zeida Gutierrez, Jon Edenfield

Fall 2023 Virtual OTD Capstone Symposium

Drowning is the number one cause of death for children ages 1-4 and the second leading cause of death for children ages 5-14 (Centers for Disease Control and Prevention [CDC], 2022). Children with autism are 160x more likely to drown than their neurotypical peers (Autism Society of Florida, n.d.). Many parents and caregivers put protective layers in place such as locks, gates, and fencing. However, children with autism are known to wander from safe spaces. According to the Autism Society of Florida (n.d.) children with autism are naturally drawn to water due to its ability to ease sensory needs. Brenner …

Exploration Of Ayres Sensory Integration® In School-Based Practice: A Clinician’S Perspective, Maria Cerase, Otd, Otr/L

Post-Professional Occupational Therapy Doctorate Culminating Presentations

Introduction: While Ayres Sensory Integration^® is an evidenced-based intervention for autism with potential application in school settings (Whiting et al., 2023; Steinbrenner et al., 2020; May-Benson et al., 2014), school-based occupational therapists perceive challenges in its implementation.

Objectives: To explore the current factors, including facilitators and barriers, identified by school-based occupational therapists impacting the use of ASI intervention in school-based practice.

Methods: Cross-sectional descriptive study using survey methodology from a national sample of school-based occupational therapists.

Results: Descriptive statistics calculated for frequency and percentages of reported responses. Top perceived barriers to ASI implementation in the …

School Participation Of Students With Autism Spectrum Disorder And Food Selectivity, Courtney Desol, Ms, Otr/L

Post-Professional Occupational Therapy Doctorate Culminating Presentations

Introduction: Children with autism spectrum disorders (ASD) are five times more likely to have feeding challenges than neurotypical peers (Sharp et al., 2013). Of these feeding challenges, food selectivity is among the most prevalent (Leader et al., 2020) and is defined as food refusal or limited food repertoire (Bandini et al., 2017). Food selectivity has been correlated with nutrition inadequacies (Bandini et al., 2010; Sharp et al., 2013) and poor diet quality (Johnson et al., 2014) in children with ASD. Additionally, correlations exist with sensory processing difficulties (Leader et al., 2020; Suarez et al., 2014), internalizing and externalizing behaviors (Johnson …

African-American Parents’ Cultural Understandings Of The Concept Of Autism And Implications For Parental Communication And Health Management, Kellie J. Fennell

Communication & Theatre Arts Theses

In 2023 the Centers of Disease Control reported that around 1 in 36 children are diagnosed with Autism in America and that the prevalence has increased by 178% since 2000 (CDC, 2023). Despite increases in awareness and diagnosis past research finds that the discussions of ASD in African American communities is minimal (Fombonne, 2003; Yeargin Allsopp et al., 2003). This disparity is important considering that African American children receive an ASD diagnosis years later than their white counterparts and are much more likely to be misdiagnosed (Mandell et al., 2009, 2002).

Given the history of a lack of representation of …

The Experiences Of Autistic Doctors: A Cross-Sectional Study, Sebastian C.K. Shaw, Alexander Fossi, Laura A. Carravallah, Kai Rabenstein, Wendy Ross, Mary Doherty

Jefferson Autism Center of Excellence Faculty Papers

Introduction: Medicine may select for autistic characteristics. As awareness and diagnosis of autism are growing, more medical students and doctors may be discovering they are autistic. No studies have explored the experiences of autistic doctors. This study aimed to fill that gap.

Methods: This is a cross-sectional study. A participatory approach was used to identify the need for the project and to modify a pre-existing survey for use exploring the experiences of autistic doctors.

Results: We received 225 responses. 64% had a formal diagnosis of autism. The mean age of receiving a formal diagnosis was 36 (range 3–61). Most were …

Phenotype And Genetic Analysis Of Data Collected Within The First Year Of Neurodev, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emily O’Heir, Jake Allen, Christina Austin-Tse, Samantha Baxter, Amina Abubakar, Charles Newton, Alicia Martin

Institute for Human Development

Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev’s first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing …

Missed And Prior Diagnoses In Children Later Diagnosed With Autism, Maire Diemer

Dissertations

Awareness of autism is rising, yet social determinants of health continue to impact rates, ages of diagnosis, and diagnostic load. Different psychiatric labels carry stigmas; unequal rates of diagnoses may indicate biases in the healthcare system. This study investigates six prior diagnoses (ADHD, disorders of conduct, adjustment, anxiety, mood, and intellectual disability) assigned to children who are later diagnosed with autism. The study investigates how race, sex, and geographic factors were associated with age of diagnosis and diagnostic load. This study utilized a sample of 13,850 children aged 2-10 who were diagnosed with autism on Missouri Medicaid between 2015 and …

Never-Ending Parenting: Challenges Experienced By Caregivers Of Adults With Severe Autism, Andrea Palerino

Dissertations, Theses, and Capstone Projects

Despite the large number of children with autism spectrum disorder (ASD) who are annually aging out of the school-based systems in the United States, much of the academic literature has been focused on the concerns and challenges of preschool or school-aged children with ASD. As a result, there lacks a clear understanding of how primary caregivers of adult children with severe autism spectrum disorder (SASD) utilize various forms of capital to navigate care.

This qualitative descriptive study explored some of the challenges experienced by primary caregivers of adult children with SASD. Convenience sampling was used to conduct semi-structured interviews with …

Telepractice-Based Language Intervention Training For Parents Of Children With Autism Spectrum Disorders, Sarah Bryan

Honors Theses

This study closely examined the progression and fidelity of strategy implementation of parents undergoing an ASD language intervention training program. This instructional, interactive program was designed for parents of children with autism, thus catering to the needs of participants involved. This study assessed the use of parent comments and redirects, two kinds of parent strategies, during each parent-child interaction to provide more information about the impact of training sessions. The researchers hypothesized that by the end of training, parent participants would increase their fidelity of strategy implementation, increase their use of comments rather than redirects, and employ more open-ended questions …

An Examination Of The Research Addressing Evidence-Based Communication Approaches For Students With Autism, Sydni Kaye Mcatee

Honors Theses

The meta-analysis examines scholarly articles regarding research on evidence-based communication for students with Autism Spectrum Disorder. More specifically, this research involves different forms of Alternative and Augmentative Communication. This form of communication is used without a voice. A variety of interventions for Manual Signing (MS), Speech Generating Devices (SGD), and Picture Exchange Communication Systems (PECS) are reviewed within the research study. The purpose of this research is to define which evidence-based Alternative and Augmentative Communication (AAC) interventions are most effective for children with Autism. More specifically, determining which form of communication can help lead children to more expressive language and …

The Relationship Between Social Cognition And Social Behavior Of Young Adults With Autism Spectrum Disorder Using The Ucla Peers® For Young Adults Social Skill Program, Meaghan Balsdon

Electronic Theses and Dissertations

Research indicates that social communication impairments are a defining and persistent feature of Autism Spectrum Disorder (ASD; Centers for Disease Control and Prevention, 2022). Social communication consists of what an individual knows about social skills (i.e., social cognition) and how they observably respond in social situations (i.e., social behavior). It is difficult to gain a comprehensive assessment of social communication because social cognition assessments are prone to inaccuracies due to poor metacognitive skills in individuals with ASD (DeBrabander et al., 2021; Cederlund et al., 2010; Vickerstaff et al., 2006). Inaccurate reporting of social cognition leads to potential discrepancies in observable …

Qualitative Development Of Items For A Young Adult Autism Spectrum Disorder Screener, David Roehm

Masters Theses & Specialist Projects

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits across multiple domains such as deficits in social communication and restricted, repetitive patterns of behavior. The prevalence of ASD has increased over time, and while there are ample screeners and assessments for children, there is a distinct lack of screeners for young adults between the ages of 18 and 25 years. The present study focused on exploring the gap in screeners for ASD in young adults and assessing the insight of experts in the field toward the development of a screener for ASD in young adults. Participants (N = …

Occupational Therapists’ Role In Educating Caregivers On Pediatric Sensory Interventions Guided By Neurodiversity Principles, Deanna Bourgeois

Student Capstone Papers

Background: Neurodivergent children often experience differences in sensory processing and self-regulation. Traditional sensory-based interventions are frequently used by occupational therapy practitioners (OTP) and caregivers to address dysregulation. However, sensory-based interventions, while often strengths-based, are not always neurodiversity-affirming.

Problem: There are minimal educational resources available to both OTP and caregivers that promote neurodiversity-affirming sensory interventions to support neurodivergent children.

Methods: The purpose of this project was to create self-paced educational modules to teach neurodiversity-affirming sensory interventions that promote children's self-regulation. To achieve this goal, the student investigator developed virtual educational modules and piloted them with OTP, occupational therapy …

Promoting Neurodiversity Across The Lifespan, Erika Chavez, Karen Park

Spring 2023 Virtual OTD Capstone Symposium

A poster to assess the overall needs of neurodiverse populations who participate in adult day programs and have opportunities to engage within their community. The purpose was to empower neurodiverse populations throughout adulthood to be themselves and engage with others and in occupations as they see fit.

Elopement Prevention: Promoting Safety And Supporting Participation, Sarah C. Duckworth

OTD Capstone Projects

The goal of this capstone project was to create resources promoting elopement prevention and provide suggestions for anti-elopement equipment visits at the Vanderbilt Pediatric Seating & Mobility Clinic. Research indicates that 50% of families have never received guidance about elopement prevention from a healthcare professional. The tools created during this capstone project were meant to improve equipment visits, educate caregivers, and empower future occupational therapy practitioners. The goals were achieved through collaboration with stakeholders, completing a review of the literature, attending a child passenger safety technician course, and developing resources. The result was a social story and sensory toolbox for …

Autism Spectrum Disorder (Asd), Morgan E. Fambro, Kendahl Schlosser, Carmen H. Ausserer

Client Educational Handouts

Autism Spectrum Disorder is a developmental disorder often caused by genetic predisposition combined with environmental factors. ASD can be present in many different forms and severity levels. On the mild end of the spectrum people are often able to enter into mainstream education and integrate into the workplace with the use of therapeutic learned skills to improve their social skills. On the more severe end of the spectrum, autistic people may never learn functional social skills or ways to communicate. These barriers can be challenging for the autistic person and their family. It is a disorder that is lifelong. Treatments …

Educational Modules Promoting Neurodiversity-Affirming Sensory Interventions, Deanna Bourgeois, Mary Smith, Gina Benavente

Spring 2023 Virtual OTD Capstone Symposium

Neurodivergent children often experience differences in sensory processing and self-regulation. Traditional sensory-based interventions are frequently used by occupational therapy practitioners (OTP) and caregivers to address dysregulation. Sensory-based interventions are strengths-based but not always neurodiversity-affirming. There are few educational resources available that promote neurodiversity-affirming sensory interventions.

The purpose of this project was to create self-paced educational modules to teach neurodiversity-affirming sensory interventions promoting children's self-regulation. The student investigator developed virtual educational modules and piloted them with OTP, occupational therapy students, and caregivers during the capstone experience. The participants engaged with the modules and also submitted responses to pre-and post-surveys. Based on …

Telehealth Family Navigation For Early Autism Services Access: The Autism Alert Project, Mohadeseh Solgi, Avneet Sidhu, Annie Hoang, Alicia Feryn, Joseline Raja-Vora, Patricia Cavanaugh, Michelle Tae, Eric Fombonne, Katharine Zuckerman

OHSU-PSU School of Public Health Annual Conference

Background: Delays in access to educational services for autism are common and more likely among children from families of color and/or with low income. In-person family navigation accelerates autism diagnosis; however, the effectiveness of telehealth autism diagnostic navigation is unknown.

Objectives: To test preliminary feasibility and efficacy of a telehealth autism navigation program.

Method: This was a site-randomized pilot trial of autism family navigation for Oregon children in 2021-2022. The intervention used layperson family resource specialists based at Oregon’s Help Me Grow program as navigators for families of children with autism symptoms. Pediatric clinics with >30% Medicaid, located in 5 …

Parental Acceptance Of Silver Diamine Fluoride Treatment For Carious Lesions, Mitchell Miller, Kelly Hart, Maria A. Levi-Minzi, Jennifer Chung, Judith Chin, Oscar Padilla, Romer Ocanto

HPD Articles

Objectives The purpose of this study was to determine parental acceptability of the use of Silver Diamine Fluoride (SDF) as an alternative treatment for carious legions. In addition, we examined potential factors influencing higher levels of SDF acceptance. Methods Project was approved by the institutional review board. Parents of patients receiving care at Nova Southeastern University’s dental clinics were asked to review an educational document related to the use and side effects of SDF; surveys were then distributed to assess willingness to use this treatment for their child. SDF acceptance was measured by mean scores on the SDF Feasibility Questionnaire; …

Identifying Key Language Research Priorities In Autistic Children According To Parents, Taylor Hale

LSU Master's Theses

The lack of involvement of the autistic community and its stakeholders in autism research has led to a call to action. At present, autism researchers have limited knowledge about stakeholders’ priorities for research. The current study aimed to bridge the disconnect between the extant autism research and the recent neurodiversity movement by surveying key stakeholders – parents of autistic children – on their perspectives on autism research that focuses on language. Twenty-six parents of autistic children completed an online survey on their views on autism language research with an option to participate in a follow-up interview. Six parents participated in …

Developmental Changes In Electrophysiological Properties Of Auditory Cortical Neurons In The Cntnap2 Knockout Rat, Rajkamalpreet S Mann, Brian L Allman, Susanne Schmid

Anatomy and Cell Biology Publications

Disruptions in the CNTNAP2 gene are known to cause language impairments and symptoms associated with autism spectrum disorder (ASD). Importantly, knocking out this gene in rodents results in ASD-like symptoms that include auditory processing deficits. This study used in vitro patch-clamp electrophysiology to examine developmental alterations in auditory cortex pyramidal neurons of Cntnap2^-/- rats, hypothesizing that CNTNAP2 is essential for maintaining intrinsic neuronal properties and synaptic wiring in the developing auditory cortex. Whole cell patch-clamp recordings were conducted in wildtype and Cntnap2^-/- littermates at three postnatal age ranges (P8-12, P18-21, and …

Sensory Map Of Local Zoo: A Capstone Project, Felicity Elsaesser

Occupational Therapy Doctoral Student Capstone Posters

This capstone was conducted at the Cleveland Zoo in partnership with Cleveland State University. An accessible map was created to allow individuals with sensory sensitivities to enjoy this large, outdoor space. The final outcome was an increase in the accessibility and inclusivity at the zoo.

Can The Sweet Pills Restore The Smiles Of Autistic Children?, Deepthi Gilla, K.C. Muraleedharan

Indian Journal of Research in Homoeopathy

The second of April marks World Autism Awareness Day (WAAD), every year globally. WAAD was designated by the United Nations in 2007 to help end stigmatization and discrimination against those with Autism and their caregivers. It aims to raise understanding and awareness of this global health issue at all levels of society. The alarming increase in prevalence (1 in 100-WHO) and potentially lifelong disabling nature of the disorder demands awareness as early identification and intervention are pivotal in the management of Autism.

Neural Mechanisms Of Language Development In Infancy, Scott Huberty, Christian O'Reilly, Virginia Carter Leno, Mandy Steiman, Sara J. Webb, Mayada Elsabbagh, The Basis Team

Publications

Understanding the neural processes underpinning individual differences in early language development is of increasing interest, as it is known to vary in typical development and to be quite heterogeneous in neurodevelopmental conditions. However, few studies to date have tested whether early brain measures are indicative of the developmental trajectory of language, as opposed to language outcomes at specific ages. We combined recordings from two longitudinal studies, including typically developing infants without a family history of autism, and infants with increased likelihood of developing autism (infant-siblings) (N = 191). Electroencephalograms (EEG) were recorded at 6 months, and behavioral assessments at …

Our Voices: Getting To Know Autism, Katherine Rasberry

Honors Theses

This study was done in effort to understand the thoughts and feelings of autistic adults relative to life transitions and resources available. We surveyed key stakeholders; specifically autistic students, but also family/caregivers of adults. Six surveys were created, each based upon different themes: camouflaging, life transitions, managing mental health, overstimulation, social communication, and family and caregiver perceptions. Our surveys were marketed on Western Michigan University’s campus and through social media and are still ongoing. Trends in the data, however, suggest that overall autistics have concerns about how their disabilities impact life in or shortly after college. Many respondents expressed they …

Differences In Startle And Prepulse Inhibition In Contactin-Associated Protein-Like 2 Knock-Out Rats Are Associated With Sex-Specific Alterations In Brainstem Neural Activity, Alice Zheng, Kaela E Scott, Ashley L Schormans, Rajkamalpreet Mann, Brian L Allman, Susanne Schmid

Anatomy and Cell Biology Publications

The contactin-associated protein-like 2 (CNTNAP2) gene encodes for the CASPR2 protein, which plays an essential role in neurodevelopment. Mutations in CNTNAP2 are associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. Rats with a loss of function mutation in the Cntnap2 gene show increased acoustic startle response (ASR) and decreased prepulse inhibition (PPI). The neural basis of this altered auditory processing in Cntnap2 knock-out rats is currently unknown. Auditory brainstem recordings previously revealed no differences between the genotypes. The next step is to investigate brainstem structures outside of the primary auditory pathway that mediate ASR and PPI, which are …