Neurology Commons^™

Utility Of The 3di Short Version In The Identification And Diagnosis Of Autism In Children At The Kenyan Coast., Patricia Kipkemoi, Symon Kariuki, Joseph Gona, Felicita Wangeci Mwangi, Martha Kombe, Collins Kipkoech, Paul Mwangi, William Mandy, Amina Abubakar, Charles Newton

Institute for Human Development

Introduction: The precise epidemiological burden of autism is unknown because of the limited capacity to identify and diagnose the disorder in resource-constrained settings, related in part to a lack of appropriate standardised assessment tools and health care experts. We assessed the reliability, validity, and diagnostic accuracy of the Developmental Diagnostic Dimensional Interview (3Di) in a rural setting on the Kenyan coast.

Methods: Using a large community survey of neurodevelopmental disorders (NDDs), we administered the 3Di to 2,110 children aged between 6 years and 9 years who screened positive or negative for any NDD and selected 242 who had specific symptoms …

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 …

Prevalence Of Gastrointestinal Symptoms Among Autistic Individuals, With And Without Co-Occurring Intellectual Disability, Calliope Holingue, Danika Pfeiffer, Natasha N. Ludwig, Rachel Reetzke, Ji Su Hong, Luther G. Kalb, Rebecca Landa

Communication Disorders & Special Education Faculty Publications

Gastrointestinal symptoms (GI) are very common among individuals on the autism spectrum. Prior research reports mixed findings regarding whether individuals with autism and co-occurring intellectual disability (ID) have elevated risk of gastrointestinal symptoms relative to individuals with autism alone. GI symptoms can be challenging to assess in individuals with autism spectrum disorder (ASD) and/or ID given challenges with language, communication, and interoception. Prior research has tended to only include individuals with documented presence or absence of GI symptoms or conditions, that is, to exclude observations in which there is uncertainty regarding presence of GI symptoms. Therefore, none of the prior …

A Story Of Hope: How A Community Project Is Transforming The Lives Of Filipino Children With Intellectual And Developmental Disabilities, Lance Vincent C. Sese, Ma Celina L. Guillermo

Ateneo School of Medicine and Public Health Publications

The issue of social inequality became more prevalent during the pandemic and with it, the call for preferential option toward the vulnerable. 1 Not only do we protect them from sickness and death, but we are also called to improve their quality of life. Thus, it is imperative that in this call for inclusivity, we address the gap, one group at a time—for example, children with special needs. The project discussed in this perspective article exemplifies the importance of collaboration in bridging the gap to create a more holistic environment for Filipino children with special needs. This article then serves …

Comparison Of Machine Learning Methods For Classification Of Alexithymia In Individuals With And Without Autism From Eye-Tracking Data, Furkan Iigin, Megan A. Witherow, Khan M. Iftekharuddin

Electrical & Computer Engineering Faculty Publications

Alexithymia describes a psychological state where individuals struggle with feeling and expressing their emotions. Individuals with alexithymia may also have a more difficult time understanding the emotions of others and may express atypical attention to the eyes when recognizing emotions. This is known to affect individuals with Autism Spectrum Disorder (ASD) differently than neurotypical (NT) individuals. Using a public data set of eye-tracking data from seventy individuals with and without autism who have been assessed for alexithymia, we train multiple traditional machine learning models for alexithymia classification including support vector machines, logistic regression, decision trees, random forest, and multilayer perceptron. …

Profiles And Correlates Of Language And Social Communication Differences Among Young Autistic Children, Rachel Reetzke, Vini Singh, Ji Su Hong, Calliope B. Holingue, Luther G. Kalb, Natasha N. Ludwig, Deepa Menon, Danika L. Pfeiffer, Rebecca J. Landa

Communication Disorders & Special Education Faculty Publications

Delays in early language development are characteristic of young autistic children, and one of the most recognizable first concerns that motivate parents to seek a diagnostic evaluation for their child. Although early language abilities are one of the strongest predictors of long-term outcomes, there is still much to be understood about the role of language impairment in the heterogeneous phenotypic presentation of autism. Using a personcentered, Latent Profile Analysis, we first aimed to identify distinct patterns of language and social communication ability in a clinic-based sample of 498 autistic children, ranging in age from 18 to 60 months (M = …

How Useful Is Electroencephalography In The Diagnosis Of Autism Spectrum Disorders And The Delineation Of Subtypes: A Systematic Review, Oana Gurau, William Bosl, Charles R. Newton

Nursing and Health Professions Faculty Research and Publications

Autism spectrum disorders (ASD) are thought to be associated with abnormal neural connectivity. Presently, neural connectivity is a theoretical construct that cannot be easily measured. Research in network science and time series analysis suggests that neural network structure, a marker of neural activity, can be measured with electroencephalography (EEG). EEG can be quantified by different methods of analysis to potentially detect brain abnormalities. The aim of this review is to examine evidence for the utility of three methods of EEG signal analysis in the ASD diagnosis and subtype delineation. We conducted a review of literature in which 40 studies were …

Impairment Of Trkb-Psd-95 Signaling In Angelman Syndrome, Cong Cao, Mengia S. Rioult-Pedotti, Paolo Migani, Crystal J. Yu, Rakesh Tiwari, Keykavous Parang, Mark R. Spaller, Dennis J. Goebel, John Marshall

Pharmacy Faculty Articles and Research

Angelman syndrome (AS) is a neurodevelopment disorder characterized by severe cognitive impairment and a high rate of autism. AS is caused by disrupted neuronal expression of the maternally inherited Ube3A ubiquitin protein ligase, required for the proteasomal degradation of proteins implicated in synaptic plasticity, such as the activity-regulated cytoskeletal-associated protein (Arc/Arg3.1). Mice deficient in maternal Ube3A express elevated levels of Arc in response to synaptic activity, which coincides with severely impaired long-term potentiation (LTP) in the hippocampus and deficits in learning behaviors. In this study, we sought to test whether elevated levels of Arc interfere with brain-derived neurotrophic factor (BDNF) …

The Neural Underpinnings Of Prosody In Autism, Inge-Marie Eigsti, Jillian Schuh, Einar Mencl, Robert T. Schultz, Rhea Paul

Communication Disorders Faculty Publications

This study examines the processing of prosodic cues to linguistic structure and to affect, drawing on fMRI and behavioral data from 16 high-functioning adolescents with autism spectrum disorders (ASD) and 11 typically developing controls. Stimuli were carefully matched on pitch, intensity, and duration, while varying systematically in conditions of affective prosody (angry versus neutral speech) and grammatical prosody (questions versus statement). To avoid conscious attention to prosody, which normalizes responses in young people with ASD, the implicit comprehension task directed attention to semantic aspects of the stimuli. Results showed that when perceiving prosodic cues, both affective and grammatical, activation of …