Communication Sciences and Disorders Commons^™

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.)

Neuroanatomic Predictors To Prodromal Psychosis In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome): A Longitudinal Study, Wendy R. Kates, Kevin M. Antshel, Stephen V. Faraone, Wanda Fremont, Anne Marie Higgins, Robert J. Shprintzen, Jo-Anna Botti, Lauren Kelchner, Christopher Mccarthy

Communication Disorders Faculty Publications

Background: Up to 30% of young adults with velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) develop schizophrenia or psychosis. Identifying the neuroanatomic trajectories that increase risk for psychosis in youth with this genetic disorder is of great interest. Methods: We acquired high-resolution anatomic MR images and measures of psychiatric function on 72 youth with VCFS, 26 unaffected siblings and 24 age-matched community controls at two timepoints, between late childhood (mean age, 11.9 years) and mid-adolescence (mean age, 15.1 years). Results: With the exception of cranial gray matter and orbitofrontal prefrontal cortex, neuroanatomic trajectories in youth with VCFS were comparable to unaffected …

Infants At Risk For Asd Show Aberrant Preferences For Speech At Six To Nine Months, Rhea Paul, Gerald Mcroberts, Katyrzyna Chawarska

Communication Disorders Faculty Publications

Purpose: To examine auditory preferences for speech stimuli in infants at risk for Autism Spectrum Disorder due to the presence of a diagnosed sibling.

Out Of The Mouths Of Babes: Vocal Production In Infant Siblings Of Children With Asd, Rhea Paul, Yael Fuerst, Gordon Ramsay, Kasia Chawarska, Ami Klin

Communication Disorders Faculty Publications

Background: Younger siblings of children with autism spectrum disorders (ASD) are at higher risk for acquiring these disorders than the general population. Language development is usually delayed in children with ASD. The present study examines the development of pre-speech vocal behavior in infants at risk for ASD due to the presence of an older sibling with the disorder. Methods: Infants at high risk (HR) for ASD and those at low risk, without a diagnosed sibling (LR), were seen at 6, 9, and 12 months as part of a larger prospective study of risk for ASD in infant siblings. Standard clinical …

The Hypothesis Of Apraxia Of Speech In Children With Autism Spectrum Disorder, Lawrence D. Shriberg, Rhea Paul, Lois M. Black, Jan P. Van Santen

Communication Disorders Faculty Publications

In a sample of 46 children aged 4-7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants' speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5-49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, respectively, were modestly and substantially more prevalent in participants with ASD than reported population estimates. Double dissociations in speech, prosody, and voice impairments in ASD were interpreted as …

Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy R. Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Marie Higgins, Jun Liu, Robert J. Shprintzen, Bradley S. Peterson

Communication Disorders Faculty Publications

Objective: Velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to thirty percent of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia.

Method: Using a longitudinal, case-control design, we acquired anatomic magnetic resonance images to investigate both cross-sectional and longitudinal alterations in surface cortical morphology in a cohort of adolescents with VCFS and age-matched typical controls. All participants were scanned at two time points.

Results: Relative to controls, youth with VCFS exhibited alterations in inferior frontal, dorsal frontal, …

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 …

Eight Simple Rules For Talking With Preschoolers, Rhea Paul

Communication Disorders Faculty Publications

The article offers eight simple rules that teachers can use to help preschoolers build their vocabularies. It suggests teachers to talk with children to identify topics that interest them. It also recommends teachers to accompany all the routines and activities of the preschool day to enhance the language experience of children. Moreover, it proposes that open-ended questions invites preschoolers to offer lengthier and more detailed responses, thus stimulating their language growth.

The Effects Of Gender And Catechol O-Methyltransferase (Comt) Val108/158met Polymorphism On Emotion Regulation In Velo-Cardio-Facial Syndrome (22q11.2 Deletion Syndrome): An Fmri Study, Ioana L. Coman, Matthew H. Gnirke, Frank A. Middleton, Kevin M. Antshel, Wanda Fremont, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

Velo-cardio-facial syndrome (VCFS) is caused by a micro-deletion of over 40 genes at the q11.2 locus of chromosome 22 and is a risk factor for the development of schizophrenia and other psychiatric disorders. COMT, one of the genes located in the deleted region, has been considered as a major candidate gene for genetic susceptibility in psychiatric diseases. Its functional polymorphism Val108/158Met has been shown to affect prefrontal function and working memory and has been associated with emotional dysregulation. We utilized a functional magnetic resonance imaging (fMRI) event-related paradigm to asses COMT genotype and gender-moderated effects on the neural activation that …

22q11.2 Deletion Syndrome: Are Motor Deficits More Than Expected For Iq Level?, Nancy J. Roizen, Anne Marie Higgins, Kevin M. Antshel, Wanda Fremont, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group. This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2 and community control subjects and included children from these two populations with comparable FSIQs. Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community control subjects (87.2) were not different (P=.563). However, the performance IQs were (22q11.2; 81.1 vs community controls; 89.3; P

Cervical Vascular And Upper Airway Asymmetry In Velo-Cardio-Facial Syndrome: Correlation Of Nasopharyngoscopy With Mra, Avi G. Oppenheimer, Susan Fulmer, Keivan Shifteh, Ja-Kwei Chang, Allan Brook, Alan L. Shanske, Robert J. Shprintzen

Communication Disorders Faculty Publications

Purpose

Velo-cardio-facial syndrome (VCFS), the most common genetic syndrome causing cleft palate, is associated with internal carotid and vertebral artery anomalies, as well as upper airway asymmetry. Medially displaced internal carotid arteries, often immediately submucosal, present a risk of vascular injury during pharyngeal flap surgery for velopharyngeal insufficiency (VPI). We evaluate the frequency and spectrum of cervical vascular anomalies in a large cohort of VCFS patients correlating MRA with nasopharyngolaryngoscopy in detecting at risk carotid arteries. Furthermore, we assess the relationship with respect to laterality between cervical vascular patterns and the asymmetric abnormalities of these subjects’ upper airways.

Methods

Cervical …

Cognitive And Psychiatric Predictors To Psychosis In Velocardiofacial Syndrome: A 3-Year Follow-Up Study, Kevin M. Antshel, Robert J. Shprintzen, Wanda Fremont, Anne Marie Higgins, Stephen V. Faraone, Wendy R. Kates

Communication Disorders Faculty Publications

Objective: To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). Method: 70 youth with VCFS, 27 siblings of youth with VCFS and 25 community controls were followed from childhood (Mean age = 11.8 years) into mid-adolescence (mean age 15.0 years). Psychological tests measuring intelligence, academic achievement, learning/memory, attention and executive functioning as well as measures of parent and clinician ratings of child psychiatric functioning were completed at both time point. Results: Major depressive disorder, oppositional defiant disorder, and generalized anxiety disorder diagnoses increased in the VCFS sample. With very low false positive rates, the best predictor of adolescent prodromal …

Out Of The Mouths Of Babes: Prelinguistic Vocalizations In Infants At Risk For Autism Spectrum Disorders, Rhea Paul, Katyrzyna Chawarska, Yael Fuerst, Lauren Berkovits, Ami Klin

Communication Disorders Faculty Publications

Aims: To examine vocal production in infants at high risk for ASD due to the presence of an older sibling with ASD, To document changes in vocal behavior over the first year of life, To compare vocal behavior at 6, 9, and 12 months in children at high and low risk, To examine the relations between vocal behavior in the first year and outcome at 24 mo.

Talk To Me: Issues In Acquiring Spoken Language For Young Children With Autism Spectrum Disorders, Rhea Paul

Communication Disorders Faculty Publications

Speech-language pathologists play a critical role in the treatment of children with autism spectrum disorders (ASD) because communication deficits are a primary component of both the diagnostic criteria and the focus of educational services for children with these conditions. Children with ASD almost always are delayed in speech acquisition (Tager-Flusberg, Paul, & Lord, 2005), as well as in other areas of communication. Lack of speech is often the most obvious symptom and greatest cause for concern of parents of toddlers who are eventually diagnosed with ASD, even though closer observation usually reveals additional problems.

Velopharyngeal Insufficiency: Diagnosis And Management, Robert J. Shprintzen, Eileen Marrinan

Communication Disorders Faculty Publications

Journal articles relevant to the diagnosis and treatment of velopharyngeal insufficiency were reviewed. All studies ascertained by PubMed search were included. Recent findings: Studies reported on the application of magnetic resonance scanning, reliability tests of the International Working Group diagnostic protocol, the use of nasometry, and techniques designed to assess the function of the velopharyngeal mechanism. Treatment studies focused on outcomes in small samples of cases and complication rates from pharyngeal flap. One study discussed ineffective speech therapy procedures. Summary: There were relatively few studies this past year. Those that were published were hindered by small and heterogeneous sample sizes …

The Assessment And Treatment Of Prosodic Disorders And Neurological Theories Of Prosody, Joshua J. Diehl, Rhea Paul

Communication Disorders Faculty Publications

In this article, we comment on specific aspects of Peppe´ (Peppe´ , 2009). In particular, we address the assessment and treatment of prosody in clinical settings and discuss current theory on neurological models of prosody. We argue that in order for prosodic assessment instruments and treatment programs to be clinical effective, we need assessment instruments that: (1) have a representative normative comparison sample and strong psychometric properties; (2) are based on empirical information regarding the typical sequence of prosodic acquisition and are sensitive to developmental change; (3) meaningfully subcategorize various aspects of prosody; (4) use tasks that have ecological validity; …

Defining Spoken Language Benchmarks And Selecting Measures Of Expressive Language Development For Young Children With Autism Spectrum Disorders, Helen Tager-Flusberg, Sally Rogers, Judith Cooper, Rebecca Landa, Catherine Lord, Rhea Paul, Mabel Rice, Carol Stoel-Gammon, Amy Wetherby, Paul Yoder

Communication Disorders Faculty Publications

Purpose: The aims of this article are twofold: (a) to offer a set of recommended measures that can be used for evaluating the efficacy of interventions that target spoken language acquisition as part of treatment research studies or for use in applied settings and (b) to propose and define a common terminology for describing levels of spoken language ability in the expressive modality and to set benchmarks for determining a child's language level in order to establish a framework for comparing outcomes across intervention studies.
Method: The National Institute on Deafness and Other Communication Disorders assembled a group of researchers …

Exploring Writing Of English Language Learners In Middle School: A Mixed Methods Study, Robin L. Danzak

Communication Disorders Faculty Publications

The study's purpose was to assess, through mixed methods, written linguistic features of 20 Spanish-speaking English language learners (ELLs) in middle school. Students came from Mexico, Puerto Rico, and the Dominican Republic. Participants wrote two expository and two narrative formal texts, each in Spanish and English, for a total of eight writing samples each. Additionally, students developed 10 journal entries in their language of choice, and 6 randomly selected, focal participants were interviewed for the qualitative analysis. The quantitative analysis involved scoring formal texts at the lexical, syntactic, and discourse levels. Scores were analyzed using Friedman's 2-way ANOVA by ranks, …

Velo-Cardio-Facial Syndrome, Doron Gothelf, Amos Frisch, Elena Michaelovsky, Abraham Weizman, Robert J. Shprintzen

Communication Disorders Faculty Publications

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and …

Conversational Behaviors In Youth With High-Functioning Asd And Asperger Syndrome, Rhea Paul, Stephanie Miles Orlovski, Hillary Chuba Marcinko, Fred Volkmar

Communication Disorders Faculty Publications

Twenty-nine youth with autism spectrum disorders and 26 with typical development between 12 and 18 years of age were engaged in structured interviews (ADOS). The interviews were videotaped and rated for atypical conversational behaviors by trained raters, using the Pragmatic Rating Scale (Landa et al. Psychol Med 22:245–254, 1992). The ASD group was divided into AS and HFA/PDD-NOS subgroups. Significant differences were found among groups on approximately one-third of the PRS items. These items involved primarily the management of topics and information, reciprocity, intonation, and gaze management. The only differences to reach significance between the AS and HFA/PDD-NOS group were …

Pragmatic Assessment In Autism Spectrum Disorders: A Comparison Of A Standard Measure With Parent Report, Brian Reichow, Shawn Salamack, Rhea Paul, Fred Volkmar, Ami Klin

Communication Disorders Faculty Publications

The purpose of this study was to investigate the concurrent validity of subtests on the Comprehensive Assessment of Spoken Language (CASL) by comparing them with the assessment of communication and social skills on the Vineland Adaptive Behavior Scales (Vineland). The participants were 35 children and adolescents with higher functioning autism spectrum disorders (ASD) who had received both the CASL and the Vineland. Results of the study suggest that the Pragmatic Judgment and Inferences subtests of the CASL appeared to document the difficulties that individuals with ASD had in adaptive use of language for communication.

Production Of Syllable Stress In Speakers With Autism Spectrum Disorders, Rhea Paul, Nancy Bianchi, Amy Augustyn, Ami Klin, Fred Volkmar

Communication Disorders Faculty Publications

This paper reports a study of the ability to reproduce stress in a nonsense syllable imitation task by adolescent speakers with autism spectrum disorders (ASD), as compared to typically developing (TD) age-mates. Results are reported for both raters’ judgments of the subjects’ stress production, as well as acoustic measures of pitch range and duration during stressed and unstressed syllable production. Results reveal small but significant differences between speakers with ASD and typical speakers in both perceptual ratings of stress and instrumental measures of duration of syllables. The implications of these findings for understanding prosodic deficits in ASD are discussed.

Auditory Processing Disorder, Rhea Paul

Communication Disorders Faculty Publications

A response from the editor is presented in response to a question on on the nature of auditory processing disorder (APD) in children.

Velo-Cardio-Facial Syndrome: 30 Years Of Study, Robert J. Shprintzen

Communication Disorders Faculty Publications

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially …

Autistic Spectrum Disorders In Velo-Cardio Facial Syndrome (22q11.2 Deletion), Kevin M. Antshel, Alka Aneja, Leslie A. Strunge, Jena Peebles, Wanda Fremont, Kimberly Stallone, Nuria Abdulsabur, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had …

The Neural Correlates Of Non-Spatial Working Memory In Velocardiofacial Syndrome (22q11.2 Deletion Syndrome), Wendy R. Kates, Beth R. Krauss, Nuria Abdulsabur, Dierdre Colgan, Kevin M. Antshel, Anne Marie Higgins, Robert J. Shprintzen

Communication Disorders Faculty Publications

Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent neuropsychological phenotype, including deficits in executive function, visuospatial perception, and working memory. Anatomic imaging studies have identified significant volumetric reductions in the parietal lobe of individuals with VCFS, but several studies have reported that the frontal lobe is relatively preserved. We used functional magnetic resonance imaging to investigate the neural correlates of non-spatial working memory in 17 youths with VCFS, 10 of their unaffected siblings, and 10 community controls (with the same proportion of learning disabilities as …

Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin M. Antshel, Stephen V. Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert J. Shprintzen, Wendy R. Kates

Communication Disorders Faculty Publications

Mania and bipolar disorder have been reported in adolescents and adults with velocardiofacial syndrome (VCFS; also known as 22q11.2 deletion syndrome). Children with VCFS have a high prevalence of attention-deficit/hyperactivity disorder (ADHD), which may constitute a risk factor for the eventual development of bipolar disorder in this population. Therefore, we sought to determine whether children with VCFS exhibit more manic symptoms than community controls that also may have learning disorders and ADHD. The study population consisted of 86 children with VCFS and 36 community controls from ages 9 to 15 years, using measures of Young Mania Rating Scale-Parent Version, Schedule …