17 results on '"Vanda McNiven"'
Search Results
2. P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing
- Author
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Lucie Dupuis, Anna Szuto, Christian Marshall, Lianna Kyriakopoulou, Roberto Mendoza-Londono, and Vanda McNiven
- Subjects
Genetics ,QH426-470 ,Medicine - Published
- 2024
- Full Text
- View/download PDF
3. P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains
- Author
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Edward Higginbotham, Lynette Lau, Bhooma Thiruvahindrapuram, Jeffrey MacDonald, Wilson Sung, Olivia Moran, Afia Hasnain, Dimitri Stavropoulos, Melanie Beaulieu Bergeron, Kym Boycott, Vanda McNiven, and Kathy Chun
- Subjects
Genetics ,QH426-470 ,Medicine - Published
- 2024
- Full Text
- View/download PDF
4. Isolated Dystonia as an Initial Presentation of <scp>GDAP2</scp> ‐Related Disorder
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Daniel G. Di Luca, Dilinuer Wubuli, Vanda McNiven, and Anthony E. Lang
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Neurology ,Neurology (clinical) - Published
- 2023
5. Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant (P11-11.008)
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Nikolai Gil Reyes, Daniel Garbin Di Luca, Vanda McNiven, and Anthony Lang
- Published
- 2023
6. PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
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Hebah Qashqari, Vanda McNiven, Hernan Gonorazky, Roberto Mendoza-Londono, Ahmad Hassan, Tapas Kulkarni, Kimberly Amburgey, and James J. Dowling
- Subjects
Neurology ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Genetics (clinical) - Published
- 2022
7. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
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Taila, Hartley, Élisabeth, Soubry, Meryl, Acker, Matthew, Osmond, Madeline, Couse, Meredith K, Gillespie, Yoko, Ito, Aren E, Marshall, Gabrielle, Lemire, Lijia, Huang, Caitlin, Chisholm, Alison J, Eaton, E Magda, Price, James J, Dowling, Arun K, Ramani, Roberto, Mendoza-Londono, Gregory, Costain, Michelle M, Axford, Anna, Szuto, Vanda, McNiven, Nadirah, Damseh, Rebekah, Jobling, Leanne, de Kock, Bahareh A, Mojarad, Ted, Young, Zhuo, Shao, Robin Z, Hayeems, Ian D, Graham, Mark, Tarnopolsky, Lauren, Brady, Christine M, Armour, Michael, Geraghty, Julie, Richer, Sarah, Sawyer, Matthew, Lines, Saadet, Mercimek-Andrews, Melissa T, Carter, Gail, Graham, Peter, Kannu, Joanna, Lazier, Chumei, Li, Ritu B, Aul, Tugce B, Balci, Nomazulu, Dlamini, Lauren, Badalato, Andrea, Guerin, Jagdeep, Walia, David, Chitayat, Ronald, Cohn, Hanna, Faghfoury, Cynthia, Forster-Gibson, Hernan, Gonorazky, Eyal, Grunebaum, Michal, Inbar-Feigenberg, Natalya, Karp, Chantal, Morel, Alison, Rusnak, Neal, Sondheimer, Jodi, Warman-Chardon, Priya T, Bhola, Danielle K, Bourque, Inara J, Chacon, Lauren, Chad, Pranesh, Chakraborty, Karen, Chong, Asif, Doja, Elaine Suk-Ying, Goh, Maha, Saleh, Beth K, Potter, Christian R, Marshall, David A, Dyment, Kristin, Kernohan, and Kym M, Boycott
- Subjects
Genetics ,Genetics (clinical) - Abstract
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested between 2014 and 2020. Data from seven laboratories was reanalyzed with the referring clinicians. Reanalysis of clinically relevant genes identified diagnoses in 4% (13/287); four were missed by clinical testing. Translational research methods, including analysis of novel candidate genes, identified candidates in 21% (61/287). Of these, 24 families have additional evidence through data sharing to support likely diagnoses (8% of cohort). This study indicates few diagnoses are missed by clinical laboratories, the incremental gain from reanalysis of clinically-relevant genes is modest, and the highest yield comes from validation of novel disease-gene associations. Future implementation of translational research methods, including continued reporting of compelling genes of uncertain significance by clinical laboratories, should be considered to maximize diagnoses.
- Published
- 2022
8. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Author
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Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, and Rosanna Weksberg
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DNA methylation signature ,Kabuki syndrome ,HNRNPK ,RNA processing gene ,epigenetics ,DNA Methylation ,Okamoto syndrome ,neurodevelopmental disorder ,Hematologic Diseases ,Chromatin ,Epigenesis, Genetic ,episignature ,Heterogeneous-Nuclear Ribonucleoprotein K ,Phenotype ,Vestibular Diseases ,Face ,Intellectual Disability ,Genetics ,Humans ,Au-Kline syndrome ,Abnormalities, Multiple ,Genetics (clinical) - Abstract
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants. We propose new clinical diagnostic criteria for AKS that differentiate it from the clinically overlapping Kabuki syndrome and describe a significant phenotypic expansion to include individuals with missense variants who present with subtle facial features and few or no malformations. Many gene-specific DNA methylation (DNAm) signatures have been identified for neurodevelopmental syndromes. Because HNRNPK has roles in chromatin and epigenetic regulation, we hypothesized that pathogenic variants in HNRNPK may be associated with a specific DNAm signature. Here, we report a unique DNAm signature for AKS due to LoF HNRNPK variants, distinct from controls and Kabuki syndrome. This DNAm signature is also identified in some individuals with de novo HNRNPK missense variants, confirming their pathogenicity and the phenotypic expansion of AKS to include more subtle phenotypes. Furthermore, we report that some individuals with missense variants have an "intermediate" DNAm signature that parallels their milder clinical presentation, suggesting the presence of an epi-genotype phenotype correlation. In summary, the AKS DNAm signature may help elucidate the underlying pathophysiology of AKS. This DNAm signature also effectively supported clinical syndrome delineation and is a valuable aid for variant interpretation in individuals where a clinical diagnosis of AKS is unclear, particularly for mild presentations. ispartof: AMERICAN JOURNAL OF HUMAN GENETICS vol:109 issue:10 pages:1867-1884 ispartof: location:United States status: published
- Published
- 2022
9. Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant
- Author
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Nikolai Gil D. Reyes, Daniel G. Di Luca, Vanda McNiven, and Anthony E. Lang
- Subjects
Neurology ,Neurology (clinical) ,Geriatrics and Gerontology - Abstract
GNB1 encephalopathy (OMIM: 616973), caused by pathogenic variants in the GNB1 gene, is a rare neurodevelopmental syndrome characterized by global developmental delay (GDD) variably co-occurring with movement disorders. For the latter, dystonia, although the most frequent, remains uncommon. Other phenomenologies including myoclonus, tics, chorea, and ataxia, as well as oculomotor abnormalities are rare [1]. Most pathogenic variants in GNBI occur in exons 6 and 7, which are considered to be mutational hotspots [2]. Here, we report a case of GNB1 encephalopathy arising from a de novo mutation in a gene region with few reported pathogenic variants (i.e., exon 11) presenting with a unique phenotype consisting of dystonia with myoclonus and vertical supranuclear gaze palsy.
- Published
- 2022
10. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
- Author
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Millan S. Patel, Halenur Yavuz-Kienle, Alicia P Acyinena, Diane Myles-Reid, Tim Van Mieghem, Anna M. Cueto-González, Causes Study, Susan Blaser, Miereia D T Riera, Silvia A Martínez, Shannon Rego, Walter Patrick Devine, Patrick Shannon, Karen Chong, Heyko Skladny, Sally L. Dunwoodie, Gavin Chapman, Justin O. Szot, Oliver Brandau, Dimitri J. Stavropoulos, Anne Slavotinek, Eduardo F. Tizzano, Alison M. Elliott, Vanda McNiven, Lucie Dupuis, Marjan M. Nezarati, Robert S. Phillips, Kristen Miller, Roberto Mendoza-Londono, ANS - Cellular & Molecular Mechanisms, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
- Subjects
Kynurenine pathway ,Genotype ,HAAO ,NADSYN1 ,Mutation, Missense ,de novo NAD biosynthesis ,KYNU ,Nicotinamide adenine dinucleotide ,Article ,Cofactor ,Frameshift mutation ,03 medical and health sciences ,chemistry.chemical_compound ,Genetics ,Animals ,Humans ,Missense mutation ,nicotinamide adenine dinucleotide ,Genetics (clinical) ,030304 developmental biology ,Mammals ,0303 health sciences ,biology ,030305 genetics & heredity ,NAD ,Spine ,Complementation ,Congenital NAD Deficiency Disorder ,chemistry ,biology.protein ,NAD+ kinase ,kynurenine pathway - Abstract
Nicotinamide adenine dinucleotide (NAD) is an essential cofactor involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary L-tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder. Here we have identified a further three families with biallelic variants in HAAO and four families with biallelic variants in KYNU. These patients present similarly with multiple malformations of the heart, kidney, vertebrae, and limbs, of variable severity. We show that each variant identified in these patients results in loss-of-function, revealed by significant reduction in NAD levels via yeast genetic complementation assays. For the first time missense mutations are identified as a cause of malformation and shown to disrupt enzyme function. These missense and frameshift variants cause moderate to severe NAD deficiency in yeast, analogous to insufficient synthesized NAD in patients. We hereby expand the genotypic and corresponding phenotypic spectrum of Congenital NAD Deficiency Disorder.
- Published
- 2021
11. <scp> SCYL1 </scp> disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of <scp> SCYL1 </scp>
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Stephane Pelletier, Daniela Gattini, Saadet Mercimek-Andrews, Iram Siddiqui, Herbert Brill, Yaron Avitzur, and Vanda McNiven
- Subjects
Male ,Adolescent ,Developmental Disabilities ,medicine.medical_treatment ,Disease ,Liver transplantation ,Nervous System Malformations ,Bioinformatics ,Exon ,SCYL1 ,Exome Sequencing ,Gene duplication ,Living Donors ,Genetics ,Humans ,Medicine ,Genetic Predisposition to Disease ,Global developmental delay ,Child ,Genetics (clinical) ,Exome sequencing ,business.industry ,Siblings ,Phenotype ,Liver Transplantation ,DNA-Binding Proteins ,Adaptor Proteins, Vesicular Transport ,Liver ,Female ,business - Abstract
SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13-year-old boy and 9-year-old girl siblings had acute liver insufficiency and underwent living related donor liver transplantation in infancy with no genetic diagnosis. Both had tremor, global developmental delay, and cognitive dysfunction during their follow-up in the medical genetic clinic for diagnostic investigations after their liver transplantation. Exome sequencing identified a likely pathogenic variant (c.399delC; p.Asn133Lysfs*136) in SCYL1. Deletion/duplication analysis of SCYL1 identified deletions of exons 7-8 in Patient 1. Both variants were confirmed in Patient 2 and the diagnosis of SCYL1 disease was confirmed in both patients at the age of 13 and 9 years, respectively. SCYL1 protein was not expressed in both patients' fibroblast using western blot analysis. Sixteen patients with SCYL1 disease reported in the literature. Liver phenotype (n = 16), neurological phenotype (n = 13) and skeletal phenotype (n = 11) were present. Both siblings required liver transplantation in infancy and had variable phenotypes. Exome sequencing may miss the diagnosis and phenotyping of patients can help to diagnose patients.
- Published
- 2021
12. The Nose Knows… or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor
- Author
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Gwyneth Zai, Sarah Mamane, Joyce So, and Vanda McNiven
- Subjects
Adult ,Male ,Obsessive-Compulsive Disorder ,Pediatrics ,medicine.medical_specialty ,Comorbidity ,Olfactory reference syndrome ,Delusions ,Methylamines ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Genetic Testing ,Young adult ,Somatoform Disorders ,Nose ,Retrospective Studies ,Genetic testing ,medicine.diagnostic_test ,Mood Disorders ,business.industry ,Retrospective cohort study ,Middle Aged ,Olfactory Perception ,medicine.disease ,Anxiety Disorders ,030227 psychiatry ,Psychiatry and Mental health ,medicine.anatomical_structure ,Odor ,Female ,Age of onset ,business ,Metabolism, Inborn Errors ,030217 neurology & neurosurgery - Abstract
Olfactory reference syndrome (ORS) is a rarely diagnosed psychiatric disorder in which individuals falsely believe that they emit an offensive body odor. This retrospective cohort study characterizes the clinical and demographic features of 54 individuals who presented to a Canadian genetics clinic for query trimethylaminuria (TMAU), an inherited disorder in which a pungent fishy odor is produced. The majority (83%) were found to have a likely diagnosis of ORS and a high rate (73.3%) of concomitant psychiatric disorders; only two patients were diagnosed with TMAU. This study highlights the genetics clinic as an unexpected and major ascertainment point for ORS, and shows that ORS can be differentiated from TMAU by age of onset (~28 years), odor characterization (refuse-related), and the presence of associated comorbid psychiatric diagnoses. There is a low diagnostic rate of ORS, attesting to the need for improved education and awareness.
- Published
- 2019
13. NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes
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Care Rare Canada, Christine M. Armour, Kristin D. Kernohan, Vanda McNiven, Elka Miller, Yoko Ito, and Taila Hartley
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Adult ,Male ,Proband ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Posterior fossa ,Skull defect ,Biology ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Arachnoid cyst ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,Alleles ,Genetic Association Studies ,Genetics (clinical) ,Exome sequencing ,Encephalocele ,030304 developmental biology ,Sanger sequencing ,0303 health sciences ,Membrane Glycoproteins ,Cephalocele ,Genetic Variation ,medicine.disease ,Magnetic Resonance Imaging ,Phenotype ,Pedigree ,Amino Acid Substitution ,symbols ,Female ,Occipital Lobe ,Dandy-Walker Syndrome ,030217 neurology & neurosurgery - Abstract
Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Whole exome sequencing identified a rare heterozygous variant in NID1 (NM_002508.2:c.1162C>T, (p.Gln388Ter)) in the proband, his brother, and his mother. Sanger sequencing confirmed the presence of this variant in the maternal grandfather. The identical c.1162C>T variant was previously identified in variably affected members of a three-generation family with ADDWOC. This case report provides further evidence that variants in NID1 may be clinically relevant for the development of a phenotype that is consistent with ADDWOC, and extends the phenotype of NID1-associated ADDWOC to include arachnoid cysts. Given that the Dandy-Walker malformation itself is not a pre-requisite to this spectrum of phenotypes, we also suggest a novel term for the NID1-associated disorder in order to give emphasis to this phenotypic variability: "Autosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles."
- Published
- 2019
14. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
- Author
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Robin Z. Hayeems, Stephanie Luca, Wendy J. Ungar, Viji Venkataramanan, Kate Tsiplova, Naazish S. Bashir, Gregory Costain, Cara Inglese, Vanda McNiven, Nada Quercia, Andrea Shugar, Grace Yoon, Cheryl Cytrynbaum, Lucie Dupuis, Zhuo Shao, Stacy Hewson, Cheryl Shuman, Ritu Aul, Eriskay Liston, Riyana Babul-Hirji, Alexandra Bushby, Eleanor Pullenayegum, Lauren Chad, and M. Stephen Meyn
- Subjects
0303 health sciences ,03 medical and health sciences ,Surveys and Questionnaires ,030305 genetics & heredity ,Humans ,Reproducibility of Results ,Genetic Testing ,Genetics (clinical) ,030304 developmental biology - Abstract
Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) offers a novel measure to fill this gap. This study assessed its validity and inter-rater reliability.Genetics professionals completed C-GUIDE after disclosure of test results to patients. Construct validity was assessed using regression analysis to measure associations between C-GUIDE and global item scores as well as potentially explanatory variables. Inter-rater reliability was assessed by administering a vignette-based survey to genetics professionals and calculating Krippendorff's α.On average, a 1-point increase in the global item score was associated with an increase of 3.0 in the C-GUIDE score (P.001). Compared with diagnostic results, partially/potentially diagnostic and nondiagnostic results were associated with a reduction in C-GUIDE score of 9.5 (P.001) and 10.2 (P.001), respectively. Across 19 vignettes, Krippendorff's α was 0.68 (95% CI: 0.63-0.72).C-GUIDE showed acceptable validity and inter-rater reliability. Although further evaluation is required, C-GUIDE version 1.2 can be useful as a standardized approach to assess the clinical utility of genetic testing.
- Published
- 2021
15. Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation
- Author
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Vanda McNiven, Melissa T. Carter, Tadeu A. Fantaneanu, David A. Dyment, Paulina Kyriakopoulos, and Peter Humphreys
- Subjects
0301 basic medicine ,biology ,business.industry ,Intractable epilepsy ,Memantine ,General Medicine ,Bioinformatics ,medicine.disease ,GRIN2B ,atypical Rett syndrome ,03 medical and health sciences ,Epilepsy ,030104 developmental biology ,0302 clinical medicine ,Mutation (genetic algorithm) ,biology.protein ,Medicine ,epilepsy ,Atypical Rett syndrome ,Other ,memantine ,business ,030217 neurology & neurosurgery ,medicine.drug - Published
- 2018
16. Atypical Rett Syndrome and Intractable Epilepsy With Novel Mutation
- Author
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Paulina Kyriakopoulos MDCM, Vanda McNiven MD, Melissa T. Carter MD, FRCP(C), FCCMG, Peter Humphreys MDCM, FRCP(C), David Dyment DPhil, MD, FRCP(C), and Tadeu A. Fantaneanu MDCM, FRCP(C)
- Subjects
lcsh:RJ1-570 ,lcsh:Pediatrics ,lcsh:Neurology. Diseases of the nervous system ,lcsh:RC346-429 - Published
- 2018
17. Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain
- Author
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Hanna Faghfoury, Joyce So, Manasi Parikh, Samantha A. Hershenfeld, Paula Majewski, Syed Wasim, and Vanda McNiven
- Subjects
Joint hypermobility ,Adult ,Male ,Abdominal pain ,medicine.medical_specialty ,Migraine Disorders ,Immunology ,Comorbidity ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Rheumatology ,Risk Factors ,medicine ,Odds Ratio ,Immunology and Allergy ,Humans ,Psychiatry ,Depression (differential diagnoses) ,Pain Measurement ,Retrospective Studies ,Ontario ,Psychiatric Status Rating Scales ,business.industry ,Mental Disorders ,Middle Aged ,medicine.disease ,Arthralgia ,030227 psychiatry ,Abdominal Pain ,Ehlers–Danlos syndrome ,Joint pain ,Neuropathic pain ,Anxiety ,Neuralgia ,Ehlers-Danlos Syndrome ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue fragility. Psychiatric disorders and psychosocial impairment are common, yet poorly characterized, findings in EDS patients. We investigated the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 106 classic and hypermobility type EDS patients. In this retrospective study, extensive medical chart review was performed for patients referred at two genetics clinics who were diagnosed with EDS. Statistical analysis was undertaken to determine the frequency of psychiatric disorders and association with systemic findings. Psychiatric disorders were found in 42.5% of the EDS cohort, with 22.7% of patients affected with 2 or more psychiatric diagnoses. Anxiety and depression were most commonly reported, with frequencies of 23.6 and 25.5%, respectively. A variety of other psychiatric diagnoses were also identified. Abdominal pain [odds ratio (OR) 7.38], neuropathic pain (OR 4.07), migraines (OR 5.21), joint pain (OR 2.85) and fatigue (OR 5.55) were significantly associated with the presence of a psychiatric disorder. The presence of any pain symptom was significantly associated with having a psychiatric disorder (OR 9.68). Muscle pain (OR 2.79), abdominal pain (OR 5.78), neuropathic pain (OR 3.91), migraines (OR 2.63) and fatigue (OR 3.78) were significantly associated with having an anxiety or mood disorder. Joint hypermobility and the classic dermatological features of EDS showed no significant association with having a psychiatric disorder. Our findings demonstrate a high frequency of psychiatric disorders and an association with pain symptoms in EDS.
- Published
- 2015
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