Communication Sciences and Disorders Commons^™

A Neurophysiological Investigation Of Listening Effort In Normal Hearing Adults Using Fnirs And Pupillometry, Jessica Defenderfer

Theses and Dissertations (ETD)

Real-world conversations are often accompanied by some sort of interference that challenges the clarity of the speaker’s message, causing listeners to exert more effort to understand speech. Previous research has demonstrated that when listening to speech becomes difficult, various regions of the brain are recruited beyond those which engage during optimal listening conditions. However, the neural correlates that underly listening effort are not fully understood. Importantly, the pupillary response can be used to index listening effort, such that pupil size increases with increasing cognitive demand. I proposed that pupillometry can be used to characterize the cortical response, such that changes …

An Aphasia Research Agenda – A Consensus Statement From The Collaboration Of Aphasia Trialists, Myzoon Ali, Efstathia Soroli, Luis M. T. Jesus, Madeline Cruice, Jytte Isaksen, Evy Visch-Brink, Kleanthes K. Grohmann, C. Jagoe, Tarja Kukkonen, Spyridoula Varlokosta, Carlos Hernandez-Sacristan, Vicente Rosell-Clari, Rebecca Palmer, Silvia Martinez-Ferreiro, Erin Godecke, Sarah J. Wallace, Ruth Mcmenamin, David Copland, Caterina Breitenstein, Audrey Bowen, Ann-Charlotte Laska, Katerina Hilari, Marian C. Brady

Research outputs 2014 to 2021

Coordination of international aphasia research would minimise duplication of effort, support synergistic international activities across languages and multidisciplinary perspectives, and promote high-quality conduct and reporting of aphasia research, thereby increasing the relevance, transparency, and implementation of findings. The Collaboration of Aphasia Trialists (CATs) sought to develop an aphasia research agenda to direct future research activities, based on priorities shared by people with aphasia, family members, and healthcare professionals. Our established international research network spanning 33 countries contributed to this activity. Research literature reporting the priorities of stakeholders was reviewed and synthesized (phase 1). Representatives from Working Groups on Aphasia Assessment …

Patients’ Experiences Of A Communication Enhanced Environment Model On An Acute/Slow Stream Rehabilitation And A Rehabilitation Ward Following Stroke: A Qualitative Description Approach, Sarah D'Souza, Deborah J. Hersh, Erin Godecke, Natalie Ciccone, Heidi Janssen, Elizabeth Armstrong

Research outputs 2014 to 2021

Background

Patients in hospital following stroke express a desire to continue therapy tasks outside of treatment activities. However, they commonly describe experiences of boredom and inactivity. An enriched environment aims to provide opportunities for physical, cognitive and social activity and informed the development of a Communication Enhanced Environment (CEE) model to promote patient engagement in language activities.

Purpose

Explore patient perceptions of a CEE model, and barriers and facilitators to engagement in the model.

Methods

A qualitative description study from a larger project that implemented a CEE model into acute and rehabilitation private hospital wards in Western Australia. Semi-structured interviews …

Daily Phonatory Activity Of Individuals With Parkinson’S Disease, Jeff Searl, Angela M. Dietsch

Department of Special Education and Communication Disorders: Faculty Publications

Purpose

This study evaluated the amount of phonatory activity of Persons with Parkinson disease (PwPD) compared to adults without Parkinson’s disease measured over 3 days. The relationship between the amount of phonatory activity and Voice Handicap Index (VHI) total score was assessed as were differences in voicing activity across 3 days of data collection.

Methods

Fifteen PwPD receiving dopaminergic medication and fifteen age and sex matched adults without Parkinson’s disease completed the VHI and then wore a VocaLog vocal monitor (VM) for 3 consecutive days. From the VM data, the number of 1-second windows with dB sound pressure level > 0 …

Individualized Response To Semantic Versus Phonological Aphasia Therapies In Stroke, Sigfus Kristinsson, Alexandra Basilakos, Jordan Elm, Leigh Ann Spell, Leonardo Bonilha, Chris Rorden, Dirk B. Den Ouden, Christy Cassarly, Souvik Sen, Argye Hillis, Gregory Hickok, Julius Fridriksson

Communication Sciences and Disorders Faculty Articles and Research

Attempts to personalize aphasia treatment to the extent where it is possible to reliably predict individual response to a particular treatment have yielded inconclusive results. The current study aimed to (i) compare the effects of phonologically versus semantically focussed naming treatment and (ii) examine biographical and neuropsychological baseline factors predictive of response to each treatment. One hundred and four individuals with chronic post-stroke aphasia underwent 3 weeks of phonologically focussed treatment and 3 weeks of semantically focussed treatment in an unblinded cross-over design. A linear mixed-effects model was used to compare the effects of treatment type on proportional change in …

Explicit Training To Improve Affective Prosody Recognition In Adults With Acute Right Hemisphere Stroke, Alexandra Zezinka Durfee, Shannon M. Sheppard, Erin L. Meier, Lisa Bunker, Erjia Cui, Ciprian Crainiceanu, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Difficulty recognizing affective prosody (receptive aprosodia) can occur following right hemisphere damage (RHD). Not all individuals spontaneously recover their ability to recognize affective prosody, warranting behavioral intervention. However, there is a dearth of evidence-based receptive aprosodia treatment research in this clinical population. The purpose of the current study was to investigate an explicit training protocol targeting affective prosody recognition in adults with RHD and receptive aprosodia. Eighteen adults with receptive aprosodia due to acute RHD completed affective prosody recognition before and after a short training session that targeted proposed underlying perceptual and conceptual processes. Behavioral impairment and lesion characteristics were …

Clinical Case Study: The Effects Of Real-Time Iemg Biofeedback On Facial Muscle Activation Patterns In A Child With Congenital Facial Palsy, Alyssa Molina

College of Education and Human Sciences: Dissertations, Theses, and Student Research

Experimental findings are limited concerning efficacious procedures for facial reanimation following persistent idiopathic facial paralysis or paresis. Additional research examining the use of real-time integrated electromyography (iEMG) biofeedback for young children with persistent idiopathic facial paralysis is one approach to further understand the efficacy of electrophysiology biofeedback techniques in facial reanimation for this age group and etiology. iEMG research has applications in interventions for pathology of nerves and muscles affecting animation of the face. The proposed clinical case study will adopt real time iEMG visual biofeedback to facilitate facial reanimation in a preadolescent child. Quantitative measurements will determine orofacial muscle …

Abnormal Nutritive Sucking As An Indicator Of Neonatal Brain Injury, Sabrina Shandley, Gilson J. Capilouto, Eleonora Tamilia, David M. Riley, Yvette R. Johnson, Christos Papadelis

Communication Sciences and Disorders Faculty Publications

A term neonate is born with the ability to suck; this neuronal network is already formed and functional by 28 weeks gestational age and continues to evolve into adulthood. Because of the necessity of acquiring nutrition, the complexity of the neuronal network needed to suck, and neuroplasticity in infancy, the skill of sucking has the unique ability to give insight into areas of the brain that may be damaged either during or before birth. Interpretation of the behaviors during sucking shows promise in guiding therapies and how to potentially repair the damage early in life, when neuroplasticity is high. Sucking …

Aphasia In Multilingual Patients, Mira Goral, Zahra Hejazi

Publications and Research

Purpose of Review

We summarize recent published work concerning assessment and treatment of aphasia in bilingual and multilingual people and review current related models of treatment outcomes. As well, we discuss studies that address the recently debated topic of cognitive processes in bilingual individuals with aphasia, with a focus on the effects of bilingualism on aphasia recovery and its potential protective effects.

Recent Findings

Providing assessment and treatment tools that best serve multilingual individuals with aphasia and unpacking the variables and mechanisms that underlie response to treatment have emerged as goals of several recent studies. Additionally, while findings are still …

Predictors Of Poststroke Aphasia Recovery: A Systematic Review-Informed Individual Participant Data Meta-Analysis, The Rehabilitation And Recovery Of People With Aphasia After Stroke (Release) Collaborators

Research outputs 2014 to 2021

Background and Purpose: The factors associated with recovery of language domains after stroke remain uncertain. We described recovery of overall-language-ability, auditory comprehension, naming, and functional-communication across participants’ age, sex, and aphasia chronicity in a large, multilingual, international aphasia dataset. Methods: Individual participant data meta-analysis of systematically sourced aphasia datasets described overall-language ability using the Western Aphasia Battery Aphasia-Quotient; auditory comprehension by Aachen Aphasia Test (AAT) Token Test; naming by Boston Naming Test and functional-communication by AAT Spontaneous-Speech Communication subscale. Multivariable analyses regressed absolute score-changes from baseline across language domains onto covariates identified a priori in randomized controlled trials and all …

Diagnosing And Managing Post-Stroke Aphasia, Shannon M. Sheppard, Rajani Sebastian

Communication Sciences and Disorders Faculty Articles and Research

Introduction: Aphasia is a debilitating language disorder and even mild forms of aphasia can negatively affect functional outcomes, mood, quality of life, social participation, and the ability to return to work. Language deficits after post-stroke aphasia are heterogeneous.

Areas covered: The first part of this manuscript reviews the traditional syndrome-based classification approach as well as recent advances in aphasia classification that incorporate automatic speech recognition for aphasia classification. The second part of this manuscript reviews the behavioral approaches to aphasia treatment and recent advances such as noninvasive brain stimulation techniques and pharmacotherapy options to augment the effectiveness of …

Indicators Of Mild Cognitive Impairment Associated With Language Processing And Production, Diana Julbe-Delgado

USF Tampa Graduate Theses and Dissertations

The research purpose of the present study was to (1) examine cognitive-linguistic features related to processing and production across a series of tasks that are representative of everyday discourse and (2) compare older adults with and without mild cognitive impairment (MCI) across linguistic features. Twenty-seven participants, including 12 individuals with- and 15 individuals without MCI, were enrolled from a larger study (Hudak et al., 2019). Cognitive status was initially assessed as part of the larger study using the Montreal Cognitive Assessment (MoCA; Nasreddine et al., 2005). Participants who scored ≤ 25 on the MoCA received a standardized neuropsychological evaluation and …

Agrammatism And Paragrammatism: A Cortical Double Dissociation Revealed By Lesion-Symptom Mapping, William Matchin, Alexandra Basilakos, Brielle C. Stark, Dirk B. Den Ouden, Fridolin Gross, Gregory Hickok

Communication Sciences and Disorders Faculty Articles and Research

The fundamental distinction of grammatical deficits in aphasia, agrammatism and paragrammatism, was made over a century ago. However, the extent to which the agrammatism/paragrammatism distinction exists independently of differences in speech fluency has not clearly been investigated. Despite much research on agrammatism, the lesion correlates of paragrammatism are essentially unknown. Lesion-symptom mapping was used to investigate the degree to which the lesion correlates of agrammatism and paragrammatism overlap or dissociate. Four expert raters assessed videos of 53 right-handed patients with aphasia following chronic left-hemisphere stroke retelling the Cinderella story. Consensus discussion determined each subject’s classification with respect to grammatical deficits …

Wernicke’S Area In Autism: Rsfmri Study, Sydney Osbarn

Honors Theses

We investigated the functional connectivity of Wernicke’s Area and its right homologue (Planum Temporale) in individuals with Autism Spectrum Disorder (ASD) and typically developing individuals. We used resting state functional magnetic resonance imaging to analyze these areas in 145 participants from The University of Michigan via ABIDE. As a retest sample, we also used data from a University of Pittsburgh cohort. There is weakened functional connectivity between Wernicke’s Area and Planum Temporale in individuals with ASD as opposed to typically developing individuals. Participants with ASD did not have greater connectivity in other regions compared to the control group. Pragmatics, nonverbalism, …

Dementia: Types, What They Are And How They Differ, Jessica N. Schnetzer

Honors Thesis

Dementia: types, what they are and how they differ centers on the known and unknown complexities of dementia. Dementia is a very complex cognitive disease that consumes the brain, an organ of which we know very little about. Even so, this common disorder is actively being researched and is the topic of special interest of this thesis research. Described are Alzheimer’s disease, Creutzfeldt-Jakob disease, Frontotemporal dementia, Huntington’s disease, Korsakoff’s syndrome, Lewy body dementia, Parkinson’s dementia, and Vascular dementia, focusing on what they are, their specific risks, diagnosis, treatment, and their differing progressions. Guidance of this study provided by thesis director …

Brain Damage Associated With Impaired Sentence Processing In Acute Aphasia, Sigfus Kristinsson, Helga Thors, Grigori Yourganov, Sigridur Magnusdottir, Haukur Hjaltason, Brielle C. Stark, Alexandra Basilakos, Dirk B. Den Ouden, Leo Bonilha, Chris Rorden, Gregory Hickok, Argye E. Hillis, Julius Fridriksson

Communication Sciences and Disorders Faculty Articles and Research

Left-hemisphere brain damage commonly affects patients' abilities to produce and comprehend syntactic structures, a condition typically referred to as “agrammatism.” The neural correlates of agrammatism remain disputed in the literature, and distributed areas have been implicated as important predictors of performance, for example, Broca's area, anterior temporal areas, and temporo-parietal areas. We examined the association between damage to specific language-related ROIs and impaired syntactic processing in acute aphasia. We hypothesized that damage to the posterior middle temporal gyrus, and not Broca's area, would predict syntactic processing abilities. One hundred four individuals with acute aphasia (< 20 days poststroke) were included in the study. Structural MRI scans were obtained, and all participants completed a 45-item sentence–picture matching task. We performed an ROI-based stepwise regression analyses to examine the relation between cortical brain damage and impaired comprehension of canonical and noncanonical sentences. Damage to the posterior middle temporal gyrus was the strongest predictor for overall task performance and performance on noncanonical sentences. Damage to the angular gyrus was the strongest predictor for performance on canonical sentences, and damage to the posterior superior temporal gyrus predicted noncanonical scores when performance on canonical sentences was included as a cofactor. Overall, our models showed that damage to temporo-parietal and posterior temporal areas was associated with impaired syntactic comprehension. Our results indicate that the temporo-parietal area is crucially implicated in complex syntactic processing, whereas the role of Broca's area may be complementary.

Behavioral And Neural Correlates Of Normal Aging Effects On Motor Preparatory Mechanisms Of Speech Production And Limb Movement, Karim Johari, Dirk B. Den Ouden, Roozbeh Behroozmand

Communication Sciences and Disorders Faculty Articles and Research

Normal aging is associated with decline of the sensorimotor mechanisms that support movement function in the human brain. In this study, we used behavioral and event-related potential (ERP) recordings to investigate the effects of normal aging on the motor preparatory mechanisms of speech production and limb movement. The experiment involved two groups of older and younger adults who performed randomized speech vowel vocalization and button press motor reaction time tasks in response to temporally predictable and unpredictable visual stimuli. Behavioral results revealed age-related slowness of motor reaction time only during speech production in response to temporally unpredictable stimuli, and this …

Assessment Of Interprofessional Team Collaboration Scale (Aitcs): Further Testing And Instrument Revision., Carole Orchard, Linda L Pederson, Emily Read, Cornelia Mahler, Heather Laschinger

Nursing Publications

INTRODUCTION: The need to be able to assess collaborative practice in health care teams has been recognized in response to the direction for team-based care in a number of policy documents. The purpose of this study is to report on further refinement of such a measurement instrument, the Assessment of Interprofessional Team Collaboration Scale (AITCS) first published in 2012. To support this refinement, two objectives were set: Objective 1: to determine whether the items from the data collected in 2016 load on the same factors as found for the 2012 version of the 37-item AITCS. Objective 2: to determine whether …

Otologic Blast Injuries, Michelle Singer

Dissertations, Theses, and Capstone Projects

The otologic system functions as a highly sensitive pressure transducer. Because of this, the ear is the most commonly affected organ in primary blast injury. Frequently encountered symptoms include hearing loss, tinnitus, and tympanic membrane perforations. The ear is repeatedly overlooked during triage and easily forgotten in subjects with multiple injuries after major catastrophic events such as explosions. This systematic review provides an overview of the most common otologic injuries observed after blast exposure in a variety of settings and populations. An analysis of 35 studies and an additional 23 reviews was performed in attempt to uncover patterns of otologic …

Myosin-Xva Is Key Molecule In Establishing The Architecture Of Mechanosensory Stereocilia Bundles Of The Inner Ear Hair Cells, Shadan Hadi

Theses and Dissertations--Medical Sciences

Development of hair cell stereocilia bundles involves three stages: elongation, thickening, and supernumerary stereocilia retraction. Although Myo-XVa is known to be essential for stereocilia elongation, its role in retraction/thickening remains unknown. We quantified stereocilia numbers/diameters in shaker-2 mice (Myo15^sh2) that have deficiencies in “long” and “short” isoforms of myosin-XVa, and in mice lacking only the “long” myosin-XVa isoform (Myo15^ΔN). Our data showed that myosin-XVa is largely not involved in the developmental retraction of supernumerary stereocilia. In normal development, the diameters of the first (tallest)/second row stereocilia within a bundle are equal and grow simultaneously. …

Non-Fluent Speech Following Stroke Is Caused By Impaired Efference Copy, Lynda Feenaughty, Alexandra Basilakos, Leonardo Bonilha, Dirk B. Den Ouden, Chris Rorden, Brielle C. Stark, Julius Fridriksson

Communication Sciences and Disorders Faculty Articles and Research

Efference copy is a cognitive mechanism argued to be critical for initiating and monitoring speech: however, the extent to which breakdown of efference copy mechanisms impact speech production is unclear. This study examined the best mechanistic predictors of non-fluent speech among 88 stroke survivors. Objective speech fluency measures were subjected to a principal component analysis (PCA). The primary PCA factor was then entered into a multiple stepwise linear regression analysis as the dependent variable, with a set of independent mechanistic variables. Participants’ ability to mimic audio-visual speech (“speech entrainment response”) was the best independent predictor of non-fluent speech. We suggest …

Vowel Formant Dispersion Reflects Severity Of Apraxia Of Speech, Dirk B. Den Ouden, Elena Galkina, Alexandra Basilakos, Julius Fridriksson

Communication Sciences and Disorders Faculty Articles and Research

Background: Apraxia of Speech (AOS) has been associated with deviations in consonantal voice onset time (VOT), but studies of vowel acoustics have yielded conflicting results. However, a speech motor planning disorder that is not bound by phonological categories is expected to affect vowel as well as consonant articulations.

Aims: We measured consonant VOTs and vowel formants produced by a large sample of stroke survivors, and assessed to what extent these variables and their dispersion are predictive of AOS presence and severity, based on a scale that uses clinical observations to rate gradient presence of AOS, aphasia, and dysarthria. …

Hypothesis Of K+-Recycling Defect Is Not A Primary Deafness Mechanism For Cx26 (Gjb2) Deficiency, Hong-Bo Zhao

Otolaryngology--Head & Neck Surgery Faculty Publications

K⁺-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2) mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K⁺ ions after hair cell excitation, causing accumulation of K⁺-ions in the extracellular space around hair cells producing K⁺-toxicity, which eventually induces hair cell degeneration and hearing loss. However, this hypothesis has never been directly evidenced, even though it has been widely referred …

Revealing The Dual Streams Of Speech Processing, Julius Fridriksson, Grigori Yourganov, Leonardo Bonilha, Alexandra Basilakos, Dirk B. Den Ouden, Chris Rorden

Communication Sciences and Disorders Faculty Articles and Research

Several dual route models of human speech processing have been proposed suggesting a large-scale anatomical division between cortical regions that support motor–phonological aspects vs. lexical–semantic aspects of speech processing. However, to date, there is no complete agreement on what areas subserve each route or the nature of interactions across these routes that enables human speech processing. Relying on an extensive behavioral and neuroimaging assessment of a large sample of stroke survivors, we used a data-driven approach using principal components analysis of lesion-symptom mapping to identify brain regions crucial for performance on clusters of behavioral tasks without a priori separation into …

Multipoint Genome-Wide Linkage Scan For Nonword Repetition In A Multigenerational Family Further Supports Chromosome 13q As A Locus For Verbal Trait Disorders, D. T. Truong, L. D. Shriberg, S. D. Smith, K. L. Chapman, A. R. Scheer-Cohen, M. M.C. Demille, A. K. Adams, Alejandro Q. Nato Jr., E. M. Wijsman, J. D. Eicher, J. R. Gruen

Biochemistry and Microbiology

Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person’s ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders. Using genome-wide multipoint variance component linkage analysis of nonword repetition, we identified a region spanning chromosome 13q14–q21 with LOD = 4.45 between …

Schools Of Public Health In Low And Middle-Income Countries: An Imperative Investment For Improving The Health Of Populations?, Fauziah Rabbani, Leah Shipton, Franklin White, Iman Nuwayhid, Leslie London, Abdul Ghaffar, Bui Thi Thu Ha, Rajiv Rimal, Anwar Islam, Amirhossein Takian, Samuel Wong, Shehla Zaidi, Kausar S. Khan, Rozina Karmaliani, Imran Naeem Abbasi, Farhat Abbas

Community Health Sciences

Background: Public health has multicultural origins. By the close of the nineteenth century, Schools of Public Health (SPHs) began to emerge in western countries in response to major contemporary public health challenges. The Flexner Report (1910) emphasized the centrality of preventive medicine, sanitation, and public health measures in health professional education. The Alma Ata Declaration on Primary Health Care (PHC) in 1978 was a critical milestone, especially for low and middle-income countries (LMICs), conceptualizing a close working relationship between PHC and public health measures. The Commission on Social Determinants of Health (2005-2008) strengthened the case for SPHs in LMICs as …

Hormone Replacement Therapy (Hrt) Modulates Peripheral And Central Auditory System Processing With Aging, Tanika Williamson

USF Tampa Graduate Theses and Dissertations

After the findings were reported for the Women’s Health Initiative (WHI) study in the past decade, there has been a significant decline in the overall use of hormone replacement therapy (HRT) among women. However, there are still millions of middle-aged, menopausal women in the U.S. who are currently undergoing hormone therapy. Their reasons for continuing treatment include relief of severe menopausal symptoms, aid in the management of osteoporosis and reduction in the risk of colon cancer (Ness et al., 2005). The purpose of the following investigation was to evaluate the impact of HRT on the central and peripheral auditory systems …

Neural Control Of Tongue Movements Across Effort Levels, Megan Rovang, Angela M. Dietsch

UCARE: Research Products

Background

A hallmark of Parkinson’s disease (PD) is a mismatch between the perceived effort and actual forces exerted during functional activities such as speech. Current evidence supports therapy to help reset this perception of effort, but the neurological underpinnings of such treatments are unclear. This study examined brain activity during tongue movements performed at varying levels of effort to determine (1) which brain areas are involved in each task, and (2) which areas, if any, scale in activation according to effort level. These results, considered with the neurological changes associated with PD, can be used to develop and refine treatment …

Static And Dynamic Spectral Acuity In Cochlear Implant Listeners For Simple And Speech-Like Stimuli, Benjamin Anderson Russell

USF Tampa Graduate Theses and Dissertations

For cochlear implant (CI) listeners, poorer than normal speech recognition abilities are typically attributed to degraded spectral acuity. However, estimates of spectral acuity have most often been obtained using simple (tonal) stimuli, presented directly to the implanted electrodes, rather than through the speech processor as occurs in everyday listening. Further, little is known about spectral acuity for dynamic stimuli, as compared to static stimuli, even though the perception of dynamic spectral cues is important for speech perception.

The primary goal of the current study was to examine spectral acuity in CI listeners, and a comparison group of normal hearing (NH) …

Genetic Candidate Variants In Two Multigenerational Families With Childhood Apraxia Of Speech, Peter Beate, Ellen M. Wijsman, Alejandro Q. Nato Jr., University Of Washington Center For Mendelian Genomics, Mark M. Matsushita, Kathy L. Chapman, Ian B. Stanaway, John Wolff, Kaori Oda, Virginia B. Gabo, Wendy H. Raskind

Biochemistry and Microbiology

Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage …