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  1. Article ; Online: Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness.

    Thom, Robyn P / Pober, Barbara R / McDougle, Christopher J

    Expert opinion on drug safety

    2021  Volume 20, Issue 3, Page(s) 293–306

    Abstract: ... ...

    Abstract Introduction
    MeSH term(s) Humans ; Mental Disorders/drug therapy ; Mental Disorders/etiology ; Psychopharmacology ; Psychotropic Drugs/adverse effects ; Psychotropic Drugs/therapeutic use ; Quality of Life ; Williams Syndrome/drug therapy ; Williams Syndrome/psychology
    Chemical Substances Psychotropic Drugs
    Language English
    Publishing date 2021-01-11
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2088728-0
    ISSN 1744-764X ; 1474-0338
    ISSN (online) 1744-764X
    ISSN 1474-0338
    DOI 10.1080/14740338.2021.1867535
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  2. Article ; Online: Diversity of Participants in Williams Syndrome Intervention Studies.

    Shin, Eva / Ravichandran, Caitlin / Renzi, Danielle / Pober, Barbara R / McDougle, Christopher J / Thom, Robyn P

    Journal of autism and developmental disorders

    2023  

    Abstract: Purpose: This study describes participant diversity in Williams syndrome (WS) intervention studies.: Methods: A literature search was conducted to identify prospective treatment studies including participants with WS. Data was extracted on the ... ...

    Abstract Purpose: This study describes participant diversity in Williams syndrome (WS) intervention studies.
    Methods: A literature search was conducted to identify prospective treatment studies including participants with WS. Data was extracted on the reporting of and information provided on age, sex, cognitive ability, socioeconomic status, race, and ethnicity.
    Results: Eleven eligible articles were identified. Reporting rates of demographic factors varied considerably, with the highest rates for age and sex (100%) and the lowest reporting rates for race (18%) and ethnicity (9%). Combining demographic data from the two studies that reported on race and/or ethnicity (n = 33), 88% of participants were White. The combined participant mean age was 20.9 years.
    Conclusion: There is a low frequency of reporting on several demographic factors including socioeconomic status, race, and ethnicity in WS intervention studies. There is a need for increased representation of racial and ethnic minority groups, older participants, and more cognitively impaired patients in WS research.
    Language English
    Publishing date 2023-08-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-023-06088-2
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  3. Article ; Online: Growth, body composition, and endocrine issues in Williams syndrome.

    Stanley, Takara L / Leong, Aaron / Pober, Barbara R

    Current opinion in endocrinology, diabetes, and obesity

    2020  Volume 28, Issue 1, Page(s) 64–74

    Abstract: Purpose of review: Williams syndrome is a multisystem disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with ... ...

    Abstract Purpose of review: Williams syndrome is a multisystem disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with Williams syndrome. This review describes the current literature regarding growth, body composition, and endocrine issues in Williams syndrome with recommendations for surveillance and management by the endocrinologist, geneticist, or primary care physician.
    Recent findings: In addition to known abnormalities in stature, calcium metabolism, and thyroid function, individuals with Williams syndrome are increasingly recognized to have low bone mineral density, increased body fat, and decreased muscle mass. Furthermore, recent literature identifies a high prevalence of diabetes and obesity starting in adolescence, and, less commonly, a lipedema phenotype in both male and female individuals. Understanding of the mechanisms by which haploinsufficiency of genes in the Williams syndrome-deleted region contributes to the multisystem phenotype of Williams syndrome continues to evolve.
    Summary: Multiple abnormalities in growth, body composition, and endocrine axes may manifest in individuals with Williams syndrome. Individuals with Williams syndrome should have routine surveillance for these issues in either the primary care setting or by an endocrinologist or geneticist.
    MeSH term(s) Body Composition ; Humans ; Williams Syndrome/genetics ; Williams Syndrome/physiopathology
    Language English
    Publishing date 2020-10-24
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2272017-0
    ISSN 1752-2978 ; 1752-296X
    ISSN (online) 1752-2978
    ISSN 1752-296X
    DOI 10.1097/MED.0000000000000588
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  4. Article ; Online: Functional Neurological Symptom Disorder in Williams Syndrome: Case Series and Review of Relevant Literature.

    Thom, Robyn P / Balaj, Kayla / Keary, Christopher J / Pober, Barbara R / McDougle, Christopher J

    Journal of the Academy of Consultation-Liaison Psychiatry

    2021  Volume 63, Issue 2, Page(s) 170–179

    Abstract: Background: Williams syndrome (WS) is a neurodevelopmental disorder associated with several medical and psychiatric comorbidities.: Objective: To describe the clinical presentation and treatment course of functional neurological symptom disorder ( ... ...

    Abstract Background: Williams syndrome (WS) is a neurodevelopmental disorder associated with several medical and psychiatric comorbidities.
    Objective: To describe the clinical presentation and treatment course of functional neurological symptom disorder (FNSD) in 3 adult patients with WS.
    Methods: This report describes the clinical presentation and long-term follow-up of 3 individuals with WS and FNSD who experienced a range of clinical presentations and responses to treatment. The literature on the clinical assessment and treatment of FNSD as it applies to patients with neurodevelopmental disorders is reviewed.
    Results: FNSD treatment strategies used in the general population were successfully adapted for these 3 patients. Literature on the diagnosis and treatment of FNSD in patients with neurodevelopmental disorders is lacking.
    Conclusions: FNSD may be more common in individuals with WS than previously appreciated, and future studies describing the prevalence, clinical presentation, risk factors, and treatment of FNSD in WS are needed.
    MeSH term(s) Adult ; Comorbidity ; Conversion Disorder ; Humans ; Prevalence ; Risk Factors ; Williams Syndrome/complications ; Williams Syndrome/diagnosis ; Williams Syndrome/psychology
    Language English
    Publishing date 2021-10-05
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ISSN 2667-2960
    ISSN (online) 2667-2960
    DOI 10.1016/j.jaclp.2021.09.007
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  5. Article ; Online: Williams-Beuren syndrome.

    Pober, Barbara R

    The New England journal of medicine

    2010  Volume 362, Issue 3, Page(s) 239–252

    MeSH term(s) Abnormalities, Multiple/genetics ; Aortic Stenosis, Supravalvular/congenital ; Aortic Stenosis, Supravalvular/surgery ; Diabetes Mellitus/congenital ; Humans ; Sequence Deletion ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/psychology ; Williams Syndrome/therapy
    Language English
    Publishing date 2010-01-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMra0903074
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  6. Article ; Online: The proceedings of the 15th professional conference on Williams Syndrome.

    Walton, Jennifer R / Martens, Marilee A / Pober, Barbara R

    American journal of medical genetics. Part A

    2017  Volume 173, Issue 5, Page(s) 1159–1171

    Abstract: Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary ... ...

    Abstract Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood.
    MeSH term(s) Chromosomes, Human, Pair 7/genetics ; Gene Deletion ; Guidelines as Topic ; Humans ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/therapy
    Language English
    Publishing date 2017-03-29
    Publishing country United States
    Document type Congress
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.38156
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  7. Article ; Online: Williams syndrome.

    Kozel, Beth A / Barak, Boaz / Kim, Chong Ae / Mervis, Carolyn B / Osborne, Lucy R / Porter, Melanie / Pober, Barbara R

    Nature reviews. Disease primers

    2021  Volume 7, Issue 1, Page(s) 42

    Abstract: Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS ...

    Abstract Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS and leads to the loss of one copy of 25-27 genes on chromosome 7q11.23. The resulting unique disorder affects multiple systems, with cardinal features including but not limited to cardiovascular disease (characteristically stenosis of the great arteries and most notably supravalvar aortic stenosis), a distinctive craniofacial appearance, and a specific cognitive and behavioural profile that includes intellectual disability and hypersociability. Genotype-phenotype evidence is strongest for ELN, the gene encoding elastin, which is responsible for the vascular and connective tissue features of WS, and for the transcription factor genes GTF2I and GTF2IRD1, which are known to affect intellectual ability, social functioning and anxiety. Mounting evidence also ascribes phenotypic consequences to the deletion of BAZ1B, LIMK1, STX1A and MLXIPL, but more work is needed to understand the mechanism by which these deletions contribute to clinical outcomes. The age of diagnosis has fallen in regions of the world where technological advances, such as chromosomal microarray, enable clinicians to make the diagnosis of WS without formally suspecting it, allowing earlier intervention by medical and developmental specialists. Phenotypic variability is considerable for all cardinal features of WS but the specific sources of this variability remain unknown. Further investigation to identify the factors responsible for these differences may lead to mechanism-based rather than symptom-based therapies and should therefore be a high research priority.
    MeSH term(s) Cognition ; Elastin ; Humans ; Transcription Factors ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics
    Chemical Substances BAZ1B protein, human ; Transcription Factors ; Elastin (9007-58-3)
    Language English
    Publishing date 2021-06-17
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
    ISSN 2056-676X
    ISSN (online) 2056-676X
    DOI 10.1038/s41572-021-00276-z
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  8. Article ; Online: Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome.

    Brink, Benjamin D / Feinn, Richard / Kozel, Beth A / Billington, Charles J / Liu, Delong / Yu, Eric / Sindhar, Sampat / He, Julie / Rouse, Charles / Lampert, Rachel / Pober, Barbara R / Elder, Robert W

    Pediatric cardiology

    2022  Volume 43, Issue 7, Page(s) 1559–1567

    Abstract: QTc prolongation (≥ 460 ms), according to Bazett formula (QTcB), has been identified to be increased in Williams syndrome (WS) and suggested as a potential cause of increased risk of sudden cardiac death. The Bazett formula tends to overestimate QTc in ... ...

    Abstract QTc prolongation (≥ 460 ms), according to Bazett formula (QTcB), has been identified to be increased in Williams syndrome (WS) and suggested as a potential cause of increased risk of sudden cardiac death. The Bazett formula tends to overestimate QTc in higher heart rates. We performed a retrospective chart review of WS patients with ≥ 1 electrocardiogram (EKG) with sinus rhythm, no evidence of bundle branch blocks, and measurable intervals. A total of 280 EKGs from 147 patients with WS were analyzed and 123 EKGs from 123 controls. The QTc was calculated using Bazett formula. The average QTcB for individuals with WS and controls was 444 ± 24 ms and 417 ± 26 ms, respectively (p < 0.001). In our WS cohort 34.4% had at least 1 EKG with a QTcB ≥ 460 ms. The mean heart rate (HR) from patients with WS was significantly higher than controls (96 bpm vs 76 bpm, p < 0.001). Linear regression showed that HR contributed 27% to QTcB prolongation in the patients with WS. Patients with WS have a mean QTcB in the normal range but higher than controls, and a higher than expected frequency of QTc ≥ 460 ms compared to the general population. HR is also higher in WS and contributes modestly to the WS QTcB prolongation. Future studies are needed to assess if these findings contribute risk to sudden cardiac death but in the interim we recommend routine EKG testing, especially when starting QTc prolonging medications.
    MeSH term(s) Adult ; Child ; Death, Sudden, Cardiac/epidemiology ; Death, Sudden, Cardiac/etiology ; Electrocardiography ; Heart Rate/physiology ; Humans ; Long QT Syndrome/complications ; Long QT Syndrome/etiology ; Retrospective Studies ; Williams Syndrome/complications
    Language English
    Publishing date 2022-04-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 800857-7
    ISSN 1432-1971 ; 0172-0643
    ISSN (online) 1432-1971
    ISSN 0172-0643
    DOI 10.1007/s00246-022-02883-3
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    Zs.A 1528: Show issues Location:
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  9. Article: Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

    Pober, Barbara R

    American journal of medical genetics. Part C, Seminars in medical genetics

    2007  Volume 145C, Issue 2, Page(s) 158–171

    Abstract: Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the ... ...

    Abstract Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.
    MeSH term(s) Abnormalities, Multiple/genetics ; Cardiovascular Abnormalities/complications ; Chromosome Aberrations ; Chromosomes, Human, Pair 15 ; Congenital Abnormalities/epidemiology ; Family Health ; Hernia, Diaphragmatic/epidemiology ; Hernia, Diaphragmatic/genetics ; Hernia, Diaphragmatic/mortality ; Humans ; Meta-Analysis as Topic ; Prevalence
    Language English
    Publishing date 2007-04-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4868 ; 0148-7299
    ISSN 1552-4868 ; 0148-7299
    DOI 10.1002/ajmg.c.30126
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  10. Article ; Online: Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series.

    Thom, Robyn P / Keary, Christopher J / Waxler, Jessica L / Pober, Barbara R / McDougle, Christopher J

    Journal of autism and developmental disorders

    2019  Volume 50, Issue 2, Page(s) 676–682

    Abstract: Co-morbid anxiety disorders, including generalized anxiety disorder (GAD), are highly prevalent among individuals with Williams syndrome (WS). However, reports of the pharmacologic treatment of only a limited number of previous anxiety disorders in WS ... ...

    Abstract Co-morbid anxiety disorders, including generalized anxiety disorder (GAD), are highly prevalent among individuals with Williams syndrome (WS). However, reports of the pharmacologic treatment of only a limited number of previous anxiety disorders in WS have appeared in the literature. Here, we review the case histories of three adolescents/young adults with WS and the treatment course of co-morbid GAD with buspirone. Treatment with buspirone was well-tolerated and resulted in sustained response in all three cases. Common medical disorders in WS are highlighted with regards to safe and appropriate pharmacologic treatment of GAD. Buspirone's generally benign side effect profile is a major benefit of its use for treating GAD in individuals with WS.
    MeSH term(s) Adolescent ; Anti-Anxiety Agents/therapeutic use ; Anxiety Disorders/complications ; Anxiety Disorders/diagnosis ; Anxiety Disorders/drug therapy ; Buspirone/therapeutic use ; Comorbidity ; Female ; Humans ; Williams Syndrome/complications ; Williams Syndrome/diagnosis ; Williams Syndrome/drug therapy ; Young Adult
    Chemical Substances Anti-Anxiety Agents ; Buspirone (TK65WKS8HL)
    Language English
    Publishing date 2019-11-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-019-04301-9
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