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      Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care

      case-report

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          Key Clinical Message

          A 1‐year‐old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers‐Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state‐of‐the‐art cardiac monitoring and appropriate symptomatic treatment for this rare disease.

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          Most cited references22

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          Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

          P. Beighton, A. De Paepe, B. Steinmann … (1998)
          Categorization of the Ehlers-Danlos syndromes began in the late 1960s and was formalized in the Berlin nosology. Over time, it became apparent that the diagnostic criteria established and published in 1988 did not discriminate adequately between the different types of Ehlers-Danlos syndromes or between Ehlers-Danlos syndromes and other phenotypically related conditions. In addition, elucidation of the molecular basis of several Ehlers-Danlos syndromes has added a new dimension to the characterization of this group of disorders. We propose a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type. Major and minor diagnostic criteria have been defined for each type and complemented whenever possible with laboratory findings. This simplified classification will facilitate an accurate diagnosis of the Ehlers-Danlos syndromes and contribute to the delineation of phenotypically related disorders.
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            Pain management in the Ehlers-Danlos syndromes

            Pradeep Chopra, Brad T Tinkle, Claude Hamonet … (2017)
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              Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings

              Martin Cederlöf, Henrik Larsson, Paul Lichtenstein … (2016)
              Background To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through Swedish national registries. Individuals with EDS (n = 1,771) were matched with comparison individuals (n = 17,710). Further, siblings to individuals with EDS who did not have an EDS diagnosis themselves were compared with matched comparison siblings. Using conditional logistic regression, risk of autism spectrum disorder (ASD), bipolar disorder, attention deficit hyperactivity disorder (ADHD), depression, attempted suicide, suicide and schizophrenia were estimated. The same analyses were conducted in individuals with hypermobility syndrome (n = 10,019) and their siblings. Results EDS was associated with ASD: risk ratio (RR) 7.4, 95 % confidence interval (95 % CI) 5.2–10.7; bipolar disorder: RR 2.7, CI 1.5–4.7; ADHD: RR 5.6, CI 4.2–7.4; depression: RR 3.4, 95 % CI 2.9–4.1; and attempted suicide: RR 2.1, 95 % CI 1.7–2.7, but not with suicide or schizophrenia. EDS siblings were at increased risk of ADHD: RR 2.1, 95 % CI 1.4–3.3; depression: RR 1.5, 95 % CI 1.1–1.8; and suicide attempt: RR 1.8, 95 % CI 1.4–2.3. Similar results were observed for individuals with hypermobility syndrome and their siblings. Conclusions Individuals with EDS and hypermobility syndrome are at increased risks of being diagnosed with psychiatric disorders. These risk increases may have a genetic and/or early environmental background as suggested by evidence showing that siblings to patients have elevated risks of certain psychiatric disorders. Electronic supplementary material The online version of this article (doi:10.1186/s12888-016-0922-6) contains supplementary material, which is available to authorized users.
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                Author and article information

                Contributors
                Mary C. Maj: mmaj@sgu.edu
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 15 October 2018
                Publication date Collection: November 2018
                Volume: 6
                Issue: 11 ( doiID: 10.1002/ccr3.2018.6.issue-11 )
                Pages: 2256-2261
                Affiliations
                [ 1 ] Department of Biochemistry St. George’s University St. George’s Grenada
                [ 2 ] Pediatrics Ward Grenada General Hospital St. George's Grenada
                [ 3 ] Department of Psychiatry McGill University Montreal Québec Canada
                [ 4 ] Department of Medical Genetics, Cummings School of Medicine University of Calgary, Alberta Children's Hospital Calgary Alberta Canada
                Author notes
                [*] [* ] Correspondence

                Mary C. Maj, Department of Biochemistry, St. George’s University, St. George’s, Grenada.

                Email: mmaj@ 123456sgu.edu

                Author information
                http://orcid.org/0000-0001-8322-1244
                Article
                Publisher ID: CCR31873
                DOI: 10.1002/ccr3.1873
                PMC ID: 6230631
                SO-VID: 021c9ddc-6a7f-454c-9a50-009934102b53
                Copyright © © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 12 April 2018
                Date revision received : 05 September 2018
                Date accepted : 25 September 2018
                Page count
                Figures: 2, Tables: 0, Pages: 6, Words: 3335
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr31873
                cover-date November 2018
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.5.1 mode:remove_FC converted:12.11.2018

                Keywords: col5a1,developmental delay,ehlers‐danlos syndrome,limited medical resources
                Data availability:
                Keywords: col5a1, developmental delay, ehlers‐danlos syndrome, limited medical resources

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