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It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females. Most of the participants in our cohort (<jats:italic>n<\/jats:italic>\u2009=\u20099; 75%) had an IQ score within the normal range, while only one participant had intellectual disability. Participants\u2019 performance on the Cognitive Neuropsychiatric Battery (CNB) showed only mildly impaired cognitive abilities in most modules, except in the executive functioning test, which was low compared to healthy controls. Of note, 69% of the participants met criteria for at least one psychiatric disorder, mainly mood and anxiety disorders, occurring alone or in combination in the same patient. The results of the present study challenge earlier reports suggesting that mental retardation is a core constituent in DD. Of importance, it underscores the need to refer Danon patients to psychiatric assessment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38320","type":"journal-article","created":{"date-parts":[[2017,6,19]],"date-time":"2017-06-19T10:23:04Z","timestamp":1497867784000},"page":"2461-2466","source":"Crossref","is-referenced-by-count":33,"title":["Psychiatric and cognitive characteristics of individuals with Danon disease (<i>LAMP2<\/i> gene mutation)"],"prefix":"10.1002","volume":"173","author":[{"given":"Maya","family":"Yardeni","sequence":"first","affiliation":[{"name":"The Behavioral Neurogenetics Center Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6011-8279","authenticated-orcid":false,"given":"Omri","family":"Weisman","sequence":"additional","affiliation":[{"name":"The Behavioral Neurogenetics Center Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel Hashomer Israel"},{"name":"Sagol School of Neuroscience Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Children's Hospital, Rambam Health Care Campus Technion\u2014Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronnie","family":"Weinberger","sequence":"additional","affiliation":[{"name":"The Behavioral Neurogenetics Center Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Quarta","sequence":"additional","affiliation":[{"name":"Cardiology Department ASST Papa Giovanni XXIII Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Salazar\u2010Mendiguch\u00eda","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Heart Failure and Transplant Program Bellvitge University Hospital, L'Hospitalet de Llobregat Barcelona Spain"},{"name":"Health in Code, Cardiovascular Genetics A Coru\u00f1a Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Garcia\u2010Pavia","sequence":"additional","affiliation":[{"name":"Department of Cardiology Hospital Universitario Puerta de Hierro Majadahonda Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jos\u00e9","family":"Lobato\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Hospital Universitario Puerta de Hierro Majadahonda Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lourdes Fajardo","family":"Simon","sequence":"additional","affiliation":[{"name":"Hospital Universitario Puerta de Hierro Majadahonda Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Freimark","family":"Dov","sequence":"additional","affiliation":[{"name":"Leviev Heart Center, Sheba Medical Center Tel Hashomer Israel"},{"name":"Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Arad","sequence":"additional","affiliation":[{"name":"Leviev Heart Center, Sheba Medical Center Tel Hashomer Israel"},{"name":"Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron","family":"Gothelf","sequence":"additional","affiliation":[{"name":"The Behavioral Neurogenetics Center Edmond and Lily Safra Children's Hospital, Sheba Medical Center Tel Hashomer Israel"},{"name":"Sagol School of Neuroscience Tel Aviv University Tel Aviv Israel"},{"name":"Sackler School of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,6,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association(2013). 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