Medicine and Health Sciences Commons^™

Methodology For The Establishment Of Primary Porcine Vocal Fold Epithelial Cell Cultures, Elizabeth Erickson-Direnzo, Ciara Leydon, Susan L. Thibeault

Communication Disorders Faculty Publications

Objective: A current lack of methods for epithelial cell culture significantly hinders our understanding of the role of the epithelial and mucus barriers in vocal fold health and disease. Our first objective was to establish reproducible techniques for the isolation and culture of primary porcine vocal fold epithelial cells. Our second objective was to evaluate the functional significance of cell cultures using an in vitro exposure to an inflammatory cytokine. Methods: Epithelial cells were isolated from porcine vocal folds and expanded in culture. Characterization of cultures was completed by immunostaining with markers for pan-cytokeratin (epithelial cells), vimentin (stromal cells), von …

85.4 What Works For Treating Language Disorders In Children, Rhea Paul

Communication Disorders Faculty Publications

The goal of this session is to provide an overview of the principles of language intervention for children from ages 3–18 years of age and review the evidence base for selection of treatments for language disorders in preschool-aged and school-aged children, with special attention to interventions aimed at addressing pragmatic and social communication disorders.

An Introduction To Hearing Loss: Examining Conductive & Sensorineural Loss, Jamie F. Marotto

Communication Disorders Faculty Publications

A presentation on hearing loss made at the 2017 Charter Oak Conference held in Groton, CT.

Brief Report: A Mobile Application To Treat Prosodic Deficits In Autism Spectrum Disorder And Other Communication Impairments: A Pilot Study, Elizabeth Schoen Simmons, Rhea Paul, Frederick Shic

Communication Disorders Faculty Publications

This study examined the acceptability of a mobile application, SpeechPrompts, designed to treat prosodic disorders in children with ASD and other communication impairments. Ten speech-language pathologists (SLPs) in public schools and 40 of their students, 5-19 years with prosody deficits participated. Students received treatment with the software over eight weeks. Pre- and post-treatment speech samples and student engagement data were collected. Feedback on the utility of the software was also obtained. SLPs implemented the software with their students in an authentic education setting. Student engagement ratings indicated students' attention to the software was maintained during treatment. Although more testing is …

Epidermal Growth Factor Mediated Healing In Stem Cell-Derived Vocal Fold Mucosa, Liliana Palencia, Amritava Das, Sean P. Palecek, Susan L. Thibeault, Ciara Leydon

Communication Disorders Faculty Publications

Background: The goal of vocal fold wound healing is the reconstitution of functional tissue, including a structurally and functionally intact epithelium. Mechanisms underlying reepithelialization in vocal folds are not known, although it is suspected that healing involves the interplay between several growth factors. We used a three-dimensional human embryonic stem cell-derived model of vocal fold mucosa to examine the effects of one growth factor, exogenous epidermal growth factor (EGF), on wound healing. Materials and methods: A scratch wound was created in the in vitro model. Rate of wound healing, epidermal growth factor receptor (EGFR) activation, and cell proliferation after injury …

Longitudinal Predictors Of Functioning In Children With Asd, Alli Smith, Megan Lyons, Katherine Tsatsanis, Rhea Paul

Communication Disorders Faculty Publications

Objective: To examine whether maternal education and number of intervention hours are correlated and/or predictive of a range of developmental outcomes in a longitudinal cohort of children diagnosed with ASD.

Epithelial Cells Are Active Participants In Vocal Fold Wound Healing: An In Vivo Animal Model Of Injury, Ciara Leydon, Mitsuyoshi Imaizumi, Rebecca S. Bartlett, Sarah F. Wang, Susan L. Thibeault

Communication Disorders Faculty Publications

Vocal fold epithelial cells likely play an important, yet currently poorly defined, role in healing following injury, irritation and inflammation. In the present study, we sought to identify a possible role for growth factors, epidermal growth factor (EGF) and transforming growth factor-beta 1 (TGFβ1), in epithelial regeneration during wound healing as a necessary first step for uncovering potential signaling mechanisms of vocal fold wound repair and remodeling. Using a rat model, we created unilateral vocal fold injuries and examined the timeline for epithelial healing and regeneration during early and late stages of wound healing using immunohistochemistry (IHC). We observed time-dependent …

Assessing Pragmatic Language In Autism Spectrum Disorder: The Yale In Vivo Pragmatic Protocol, Elizabeth Schoen Simmons, Rhea Paul, Fred Volkmar

Communication Disorders Faculty Publications

Purpose: This study compared pragmatic language in youths (9–17 years) with autism spectrum disorder (ASD) and those with typical development (TD) on the Yale in vivo Pragmatic Protocol (YiPP), a semistructured, dynamic conversational assessment. Method: Participants (n = 118) were divided into groups based on age and diagnosis. Each completed the YiPP, which included 4 pragmatic domains (discourse management, communicative functions, conversational repair, presupposition). The participant’s response to each probe was scored correct or incorrect; incorrect scores elicited cues from the examiner, and level of cue required for a correction was also scored. Results: The YiPP showed high reliability and …

Classification For Animal Vocal Fold Surgery: Resection Margins Impact Histological Outcomes Of Vocal Fold Injury, Mitsuyoshi Imaizumi, Susan L. Thibeault, Ciara Leydon

Communication Disorders Faculty Publications

Objective—Extent of vocal fold injury impacts the nature and timing of wound healing, and voice outcomes. However, depth and extent of the lesion created to study wound healing in animal models vary across studies, likely contributing to different outcomes. Our goal was to create a surgery classification system to enable comparison of postoperative outcomes across animal vocal fold wound healing studies.

Study design—Prospective, controlled animal study.

Methods—Rats underwent one of three types of unilateral vocal fold surgeries classified by depth and length of resection. The surgeries were a subepithelial injury, resection of epithelium and superficial layer of the lamina propria …

Vocal Fold Epithelial Barrier In Health And Injury: A Research Review., Elizabeth E. Levendoski, Ciara Leydon, Susan L. Thibeault

Communication Disorders Faculty Publications

Purpose: Vocal fold epithelium is composed of layers of individual epithelial cells joined by junctional complexes constituting a unique interface with the external environment. This barrier provides structural stability to the vocal folds and protects underlying connective tissue from injury while being nearly continuously exposed to potentially hazardous insults, including environmental or systemic-based irritants such as pollutants and reflux, surgical procedures, and vibratory trauma. Small disruptions in the epithelial barrier may have a large impact on susceptibility to injury and overall vocal health. The purpose of this article is to provide a broad-based review of current knowledge of the vocal …

The Use Of Mobile Technology In The Treatment Of Prosodic Deficits In Autism Spectrum Disorders, Elizabeth Schoen Simmons, Rhea Paul, Frederick Shic

Communication Disorders Faculty Publications

Objectives: The purpose of this study is to assess the feasibility and preliminary utility of an application, SpeechPrompts, for iOS devices in the treatment of prosodic disorders in school-age children with ASD.

Adaptive Behaviors In Toddlers Under Two With Autism Spectrum Disorders, Rhea Paul, Rebecca Loomis, Katarzyna Chawarska

Communication Disorders Faculty Publications

The Vineland Adaptive Behavior Scale was administered to 54 children diagnosed with autism spectrum disorder (ASD) before age 2, and a matching group of 18 toddlers with developmental delay (DD). The group with ASD was more impaired on all scales of the Vineland than DD peers. When 18 ASD/DD pairs very closely matched on age, verbal and nonverbal development were selected, differences were found only on Vineland Receptive Communication and Daily Living. Correlation analyses to explore connection of these areas of difference with cognition and autistic symptoms suggested that Vineland Daily Living scores were significantly correlated with nonverbal ability and …

Writing Development Of Spanish-English Bilingual Students With Language Learning Disabilities, Robin L. Danzak, Elaine R. Silliman

Communication Disorders Faculty Publications

This chapter addresses Spanish-speaking, English Language Learners (ELLs) in the United States (U.S.) who are sequential bilinguals; that is, oral and written English is acquired as a second language (L2) at school. Within this population, substantial variation exists with regard to individual students’ language and literacy learning experiences. The specific focus here is the writing patterns of ELLs with atypical language development, who often present with multiple complexities in authenticating their language learning profiles in both Spanish and English.

Structural And Functional Vocal Fold Epithelial Integrity Following Injury, Ciara Leydon, Mitsuyoshi Imaizumi, David T. Yang, Susan L. Thibeault, Marvin Fried

Communication Disorders Faculty Publications

Objectives/Hypothesis: An intact epithelium is an important part of vocal fold defense. Damage to the epithelium can compromise vocal fold homeostasis and protection of the host tissue from viral and bacterial invasion. Elucidating the effects of damage on epithelial architectural and barrier integrity provides insight into the role of epithelium in protecting vocal folds. Using an animal model, we evaluated the time course of structural and functional epithelial restoration following injury. Study Design: Prospective, controlled animal study. Methods: Forty rats underwent surgery to remove vocal fold mucosa unilaterally. Larynges were harvested at five time intervals between 3 to 90 days …

The Longitudinal Course Of Attention Deficit/Hyperactivity Disorder In Velo-Cardio-Facial Syndrome, Kevin M. Antshel, Kaitlin Hendricks, Robert J. Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V. Faraone, Wendy R. Kates

Communication Disorders Faculty Publications

OBJECTIVE: To evaluate predictors of persistence of attention deficit/hyperactivity disorder (ADHD) in a large sample of children with velo-cardio-facial syndrome (VCFS) with and without ADHD followed prospectively into adolescence. STUDY DESIGN: Children with VCFS with (n = 37) and without (n = 35) ADHD who were on average 11 years old at the baseline assessment and 15 years old at the follow-up assessment were comprehensively assessed with structured diagnostic interviews and assessments of behavioral, cognitive, social, school, and family functioning. Control participants both with and without ADHD were also followed prospectively. RESULTS: In adolescence, 65% of children with VCFS continued …

Enhanced Maternal Origin Of The 22q11.2 Deletion In Velocardiofacial And Digeorge Syndromes, Maria Delio, Tingwei Guo, Donna Mcdonald-Mcginn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski, Carrie E. Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas M. Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris R. Vermeesch, Koen Devriendt, Maude Schneider, Sophie Dahoun, Stephen Eliez, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Therese Van Amelsvoort, Erik Boot, Petra Klaassen, Sasja N. Duijiff, Jacob Vorstman, Tracy Yuen, Candice Silversides, Eva Chow, Anne S. Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne Van Den Bree, Michael J. Owen, Damian Heine Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Christina Digilio, Adam Auton, Wendy R. Kates, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow

Communication Disorders Faculty Publications

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, …

Acoustic And Perceptual Measurements Of Prosody Production On The Profiling Elements Of Prosodic Systems In Children By Children With Autism Spectrum Disorders, Joshua John Diehl, Rhea Paul

Communication Disorders Faculty Publications

Prosody production atypicalities are a feature of autism spectrum disorders (ASDs), but behavioral measures of performance have failed to provide detail on the properties of these deficits. We used acoustic measures of prosody to compare children with ASDs to age-matched groups with learning disabilities and typically developing peers. Overall, the group with ASD had longer utterance durations on multiple subtests on a test of prosodic abilities, and both the ASD and learning disabilities groups had higher pitch ranges and pitch variance than the typically developing group on one subtest. Acoustic differences were present even when the prosody was used correctly.These …

Comparing Spoken Language Treatments For Minimally Verbal Preschoolers With Autism Spectrum Disorders, Rhea Paul, Daniel Campbell, Kimberly Gilbert, Ioanna Tsiouri

Communication Disorders Faculty Publications

Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. Approximately half the children in each group achieved benchmarks for the first stage of functional spoken language development, as defined by Tager-Flusberg et al. (J Speech Lang Hear Res, 52: 643–652, 2009). Analyses of moderators of treatment suggest that joint attention moderates response to both treatments, and children with better receptive language pre-treatment do better with …

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 …

Atlas-Based White Matter Analysis In Individuals With Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome) And Unaffected Siblings, Petya D. Radoeva, Ioana L. Coman, Kevin M. Antshel, Wanda Fremont, Christopher Mccarthy, Ashwini Kotkar, Dongliang Wang, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

Background: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices …

Cortical Gyrification In Velo-Cardio-Facial (22q11.2 Deletion) Syndrome: A Longitudinal Study, Arun Kunwar, Seethalakshmi Ramanathan, Joshua Nelson, Kevin M. Antshel, Wanda Fremont, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

Introduction: Velo-cardio-facial syndrome (VCFS) has been identified as an important risk factor for psychoses, with up to 32% of individuals with VCFS developing a psychotic illness. Individuals with VCFS thus form a unique group to identify and explore early symptoms and biological correlates of psychosis. In this study, we examined if cortical gyrification pattern, i.e. gyrification index (GI) can be a potential neurobiological marker for psychosis.

Method: GIs of 91 individuals with VCFS were compared with 29 siblings and 54 controls. Further, 58 participants with VCFS, 21 siblings and 18 normal controls were followed up after 3 years and longitudinal …

Sensitivity To Probabilistic Orthographic Cues To Lexical Stress In Adolescent Speakers With Autism Spectrum Disorder And Typical Peers, Joanne Arciuli, Rhea Paul

Communication Disorders Faculty Publications

Lexical stress refers to the opposition of strong and weak syllables within polysyllabic words and is a core feature of the English prosodic system. There are probabilistic cues to lexical stress present in English orthography. For example, most disyllabic English words ending with the letters “-ure” have first-syllable stress (e.g., “pasture”, but note words such as “endure”), whereas most ending with “-ose” have second-syllable stress (e.g., “propose”, but note examples such as “glucose”). Adult native speakers of English are sensitive to these probabilities during silent reading. During testing, they tend to assign first-syllable stress when reading a nonword such as …

Enhancing The Application And Evaluation Of A Discrete Trial Intervention Package For Eliciting First Words In Preverbal Preschoolers With Asd, Ioanna Tsiouri, Elizabeth Schoen Simmons, Rhea Paul

Communication Disorders Faculty Publications

This study evaluates the effectiveness of an intervention package including a discrete trial program (Rapid Motor Imitation Antecedent Training (Tsiouri and Greer, J Behav Educat 12:185–206, 2003) combined with parent education for eliciting first words in children with ASD who had little or no spoken language. Evaluation of the approach includes specific intervention targets and functional spoken language outcomes (Tager-Flusberg et al., J Speech Lang Hear Res 52:643–652, 2009). Results suggest that RMIA, with parent training, catalyzes development of verbal imitation and production for some children. Three of five participants acquired word production within the DTT framework and achieved milestones …

Acoustic Differences In The Imitation Of Prosodic Patterns In Children With Autism Spectrum Disorders, Joshua J. Diehl, Rhea Paul

Communication Disorders Faculty Publications

In research, it has been difficult to characterize the prosodic production differences that have been observed clinically in autism spectrum disorders (ASD). Moreover, the nature of these differences has been particularly hard to identify. This study examined one possible contributor to these perceived differences: motor planning. We examined the ability of children and adolescents with ASD to imitate prosodic patterns in comparison to a group with learning disabilities (LD) and a typically developing (TD) comparison group. Overall, we found that both the ASD and LD groups were significantly worse at perceiving and imitating prosodic patterns than the TD comparison group. …

Bridging The Research Gap: Making Hri Useful To Individuals With Autism, Elizabeth Kim, Rhea Paul, Frederick Shic, Brian Scassellati

Communication Disorders Faculty Publications

While there is a rich history of studies involving robots and individuals with autism spectrum disorders (ASD), few of these studies have made substantial impact in the clinical research community. In this paper we first examine how differences in approach, study design, evaluation, and publication practices have hindered uptake of these research results. Based on ten years of collaboration, we suggest a set of design principles that satisfy the needs (both academic and cultural) of both the robotics and clinical autism research communities. Using these principles, we present a study that demonstrates a quantitatively measured improvement in human-human social interaction …

Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna M. Mcdonald Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Christina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium

Communication Disorders Faculty Publications

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, …

Genotype And Cardiovascular Phenotype Correlations With Tbx1 In 1,022 Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Tingwei Guo, Donna Mcdonald-Mcginn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert J. Shprintzen, Beverly Emanuel, Bernice Morrow, The International Chromosome 22q11.2 Consortium

Communication Disorders Faculty Publications

Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP (single nucleotide polymorphism) number in those with or without a congenital heart defect. One exception …

Cleft Palate, Retrognathia And Congenital Heart Disease In Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study, Marcia A. Friedman, Nathanial Miletta, Cheryl Roe, Dongliang Wang, Bernice Morrow, Wendy R. Kates, Anne Marie Higgins, Robert J. Shprintzen

Communication Disorders Faculty Publications

Objective: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated …

Characterizing And Predicting Outcomes Of Communication Delays In Infants And Toddlers: Implications For Clinical Practice, Rhea Paul, Forma P. Roth

Communication Disorders Faculty Publications

Purpose: This article focuses on using currently available data to assist speech-language pathologists (SLPs) in making decisions regarding a child's eligibility and considerations for recommended "dosage" of early intervention (El) services. Method: Literature describing the characteristics of infants and toddlers who are likely recipients of El services was reviewed. Results: Current literature provides information that can be used to inform clinical decisions for infants and toddlers with established medical conditions, as well as those with risk factors, for oral language, communication, and subsequent literacy disabilities. This information is summarized. Conclusion: Extant literature suggests that El makes a critical difference in …

Sally J. Rogers And Geraldine Dawson: Review Of Early Start Denver Model For Young Children With Autism: Promoting Language, Learning And Engagement (Book Review), Rhea Paul

Communication Disorders Faculty Publications

Book review by Rhea Paul:

Rogers, Sally R. and Geraldine Dawson. Early Start Denver Model for Young Children with Autism: Promoting Language, Learning and Engagement. New York: Guilford Press, 2010. 9781606236321; 9781606234914 (pbk.)