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Communication Sciences and Disorders Commons™
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- 22q11.2 deletion syndrome (2)
- Audiology and Speech-Language Pathology (2)
- Cleft palate (2)
- Speech language pathology (2)
- Velocardiofacial syndrome (2)
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- AIDS (1)
- Academics (1)
- Amyotrophic Lateral Sclerosis (1)
- Bipolar disorder (1)
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- Children (1)
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- Conotruncal anomalies face syndrome (1)
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- DiGeorge syndrome (1)
- Genomic disorder (1)
- HIV (1)
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- Medical students (1)
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- Multidisciplinary Care (1)
- Perceptions (1)
- Psychiatric disorders (1)
- Psychosis (1)
- Quality of Life (1)
- Shprintzen syndrome (1)
- TBX1 sequencing (1)
- VCFS (1)
- Velo-cardio-facial syndrome (1)
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Articles 1 - 7 of 7
Full-Text Articles in Communication Sciences and Disorders
Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin Antshel, Stephen Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates
Manic Symptoms And Behavioral Dysregulation In Youth With Velocardiofacial Syndrome (22q11.2 Deletion Syndrome)., Alka Aneja, Wanda Fremont, Kevin Antshel, Stephen Faraone, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates
Robert J. Shprintzen
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 …
22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates
22q11.2ds Deletion Syndrome: Developmental Milestones In Infants And Toddlers, Nancy Roizen, Kevin Antshel, Wanda Fremont, Nuria Abdulsabur, Anne Marie Higgins, Robert Shprintzen, Wendy Kates
Robert J. Shprintzen
The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited. Methods: The present study used a retrospective design and asked parents to recall developmental milestones. The participants were 88 children with 22q11.2DS, 47 community controls, and 29 sibling controls. Results: Although very early gross motor and expressive language milestones did not differ significantly from comparison groups, subsequent gross motor and expressive language milestones did, suggesting that children with 22q11.2DS may …
Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna Mcdonald Mcginn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium
Overt Cleft Palate Phenotype And Tbx1 Genotype Correlations In Velo-Cardio-Facial/Digeorge/22q11.2 Deletion Syndrome Patients, Sean Herman, Tingwei Guo, Donna Mcdonald Mcginn, Anna Blonska, Alan Shanske, Anne Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine Suñer, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow, International Chromosome 22q11.2 Consortium
Robert J. Shprintzen
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, …
Catatonia In An Adolescent With Velo-Cardio-Facial Syndrome, Gianni Faedda, Lee Wachtel, Anne Marie Higgins, Robert Shprintzen
Catatonia In An Adolescent With Velo-Cardio-Facial Syndrome, Gianni Faedda, Lee Wachtel, Anne Marie Higgins, Robert Shprintzen
Robert J. Shprintzen
Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans and is probably the most frequent genetic cause of psychosis currently known. Many psychiatric disorders have been reported to occur in people with VCFS including, but not limited to schizophrenia, unipolar and bipolar mood disorders (with or without psychotic features), schizoaffective disorder, psychosis NOS, social phobia, generalized and separation anxiety, obsessive-compulsive disorder, autism spectrum disorder, cognitive impairment, and ADHD. This report describes the psychiatric onset and development of catatonia in an adolescent female with VCFS that was undiagnosed until 15 years of age. Catatonia may be a relatively common …
Perceptions Of Medical Students Of The Role Of The Speech-Language Pathologist In Hiv/Aids Intervention, Kendal Klein, Emily Wagner, Kristi Moore, Tanvi Amin, Brenda Louw
Perceptions Of Medical Students Of The Role Of The Speech-Language Pathologist In Hiv/Aids Intervention, Kendal Klein, Emily Wagner, Kristi Moore, Tanvi Amin, Brenda Louw
ETSU Faculty Works
Survey research was utilized to explore Medical students’ perceptions of Speech-Language Pathologists’(SLP) and Medical Practitioner’s roles in meeting the healthcare needs of people living with HIV/AIDS(PLWHA). Results identified participants’ knowledge and perceptions. Recommendations suggest interprofessional education and training for both professions, at the pre-professional and professional levels.
Academic Preparation In Cleft Palate For Speech-Language Pathologists: Is The Icf-Cy (Who, 2007) Alive And Well?, Mary B. Graham, Jackie Palmer, Brenda Louw
Academic Preparation In Cleft Palate For Speech-Language Pathologists: Is The Icf-Cy (Who, 2007) Alive And Well?, Mary B. Graham, Jackie Palmer, Brenda Louw
ETSU Faculty Works
The purpose of this project is to determine inclusion of the ICF-CY in CLP training curricula for SLPs. Survey research was conducted with course instructors across the nation. Results describe the application of the ICF-CY in CLP courses at the graduate level. Recommendations for including the ICF-CY framework are made.
The Effects Of Speech Impairment On Quality Of Life Over Time In Patients With Amyotrophic Lateral Sclerosis, Jacqueline Kelley Blessinger
The Effects Of Speech Impairment On Quality Of Life Over Time In Patients With Amyotrophic Lateral Sclerosis, Jacqueline Kelley Blessinger
PCOM Psychology Dissertations
Limited research exists on how speech impairments affect quality of life (QOL) factors over time in patients with amyotrophic lateral sclerosis (ALS). A review of the literature, including the history, disease course, and prevalence of ALS, is presented. Physical and psychosocial functioning, especially the decline of bulbar functioning’s potential impact on QOL factors and communication style, are outlined. This study is a follow-up study on a study by Duff, who found a significant difference in QOL relative to level of bulbar functioning in a cross-sectional design. The current study used a longitudinal design to look at bulbar functioning, specifically levels …