Objectives: To profile the presentation and management of patients seen at a velopharyngeal insufficiency (VPI) clinic and to explore the role of commonly used investigations in the workup of VPI.
Design: Retrospective review.
Setting: Tertiary care VPI clinic.
Methods: A computerized database created at the time of patient assessment was accessed to review 75 patients seen over an 18-month span.
Main Outcome Measures: Descriptive analysis of patient demographics, presenting complaints, pathophysiology, and treatment. The incidence of chromosome 22q microdeletion in patients presenting to such a clinic was also determined.
Results: The most common etiology was persistent VPI following prior cleft palate surgery. Eleven percent of presenting patients were identified with 22q microdeletion by fluorescent in situ hybridization testing.
Conclusions: VPI is the result of a wide number of etiologies, with a high incidence of 22q microdeletion identified. Routine genetic testing in VPI clinics is advocated.
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Can J Psychiatry
December 2024
The Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
Objective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.
View Article and Find Full Text PDFInt J Obes (Lond)
November 2024
Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.
Mol Psychiatry
July 2024
Lifespan Brain Institute of the Children's Hospital of Philadelphia (CHOP) and Penn Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are genetic disorders with lifespan risk for neuropsychiatric disorders.
View Article and Find Full Text PDFAnn Acad Med Singap
August 2023
Department of Obstetrics and Gynaecology, National University Hospital, Singapore.
Objective: To determine the distribution of major fetal congenital heart diseases (CHDs) diagnosed antenatally during routine second-trimester obstetric anatomical scans in an unselected population at a single tertiary centre and to characterise and stratify risk factors, genetic diagnosis and long-term health at 4 years old.
Method: A single-centre cohort study of all major fetal CHDs detected on routine obstetric fetal anatomical ultrasound scans between January 2014 and December 2017 was performed in an unselected population. Demographic details, fetal echocardiogram reports, genetic test results, delivery outcomes and postnatal progress were stratified by CHD subtype.
Eur J Psychotraumatol
May 2024
Department of Psychiatry, Dalhousie University, Halifax, Canada.
22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenotype (both medical and developmental/behavioural) across the lifespan can strongly impact the mental health of patients as well as their caregivers. Like caregivers of children with other chronic diseases, caregivers of children with 22q11DS may experience an increased risk of traumatisation and mental health symptoms.
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