CiteULike | Further Information

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Mendeley | Further Information

{"title"=>"Mitochondrial disease in autism spectrum disorder patients: A cohort analysis", "type"=>"journal", "authors"=>[{"first_name"=>"Jacqueline R.", "last_name"=>"Weissman", "scopus_author_id"=>"25722414700"}, {"first_name"=>"Richard I.", "last_name"=>"Kelley", "scopus_author_id"=>"35500955000"}, {"first_name"=>"Margaret L.", "last_name"=>"Bauman", "scopus_author_id"=>"7007019448"}, {"first_name"=>"Bruce H.", "last_name"=>"Cohen", "scopus_author_id"=>"7402977228"}, {"first_name"=>"Katherine F.", "last_name"=>"Murray", "scopus_author_id"=>"54990669800"}, {"first_name"=>"Rebecca L.", "last_name"=>"Mitchell", "scopus_author_id"=>"24822827300"}, {"first_name"=>"Rebecca L.", "last_name"=>"Kern", "scopus_author_id"=>"8554324800"}, {"first_name"=>"Marvin R.", "last_name"=>"Natowicz", "scopus_author_id"=>"7006406023"}], "year"=>2008, "source"=>"PLoS ONE", "identifiers"=>{"sgr"=>"56849108261", "doi"=>"10.1371/journal.pone.0003815", "pui"=>"352749425", "pmid"=>"19043581", "scopus"=>"2-s2.0-56849108261", "issn"=>"19326203", "isbn"=>"1932-6203 (Electronic)\\n1932-6203 (Linking)"}, "id"=>"4e9a4ffb-d1b6-385e-8802-cffad06e7365", "abstract"=>"BACKGROUND: Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.\\n\\nMETHODOLOGY/PRINCIPAL FINDINGS: We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity.\\n\\nCONCLUSIONS/SIGNIFICANCE: Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.", "link"=>"http://www.mendeley.com/research/mitochondrial-disease-autism-spectrum-disorder-patients-cohort-analysis", "reader_count"=>63, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>4, "Librarian"=>1, "Researcher"=>11, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>15, "Student > Postgraduate"=>2, "Other"=>5, "Student > Master"=>13, "Student > Bachelor"=>2, "Professor"=>6}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>4, "Librarian"=>1, "Researcher"=>11, "Student > Doctoral Student"=>3, "Student > Ph. D. Student"=>15, "Student > Postgraduate"=>2, "Other"=>5, "Student > Master"=>13, "Student > Bachelor"=>2, "Professor"=>6}, "reader_count_by_subject_area"=>{"Unspecified"=>3, "Agricultural and Biological Sciences"=>17, "Arts and Humanities"=>1, "Chemistry"=>1, "Computer Science"=>2, "Engineering"=>1, "Biochemistry, Genetics and Molecular Biology"=>6, "Nursing and Health Professions"=>1, "Medicine and Dentistry"=>16, "Neuroscience"=>3, "Pharmacology, Toxicology and Pharmaceutical Science"=>2, "Psychology"=>9, "Immunology and Microbiology"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>16}, "Psychology"=>{"Psychology"=>9}, "Unspecified"=>{"Unspecified"=>3}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>2}, "Arts and Humanities"=>{"Arts and Humanities"=>1}, "Engineering"=>{"Engineering"=>1}, "Chemistry"=>{"Chemistry"=>1}, "Neuroscience"=>{"Neuroscience"=>3}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>17}, "Computer Science"=>{"Computer Science"=>2}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>6}}, "reader_count_by_country"=>{"Latvia"=>1, "United States"=>4, "Japan"=>1, "United Kingdom"=>1, "Italy"=>1, "Australia"=>1, "Germany"=>1, "Spain"=>1, "India"=>1}, "group_count"=>2}

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• {"url"=>"http%3A%2F%2Fjournals.plos.org%2Fplosone%2Farticle%3Fid%3D10.1371%252Fjournal.pone.0003815", "share_count"=>12, "like_count"=>8, "comment_count"=>14, "click_count"=>0, "total_count"=>34}

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• {"id"=>"233053723700641792", "text"=>"\"child's #autism / neurodevelopmental deterioration appeared to follow #vaccination\" http://t.co/IDBqaVHg", "created_at"=>"2012-08-08T04:15:12Z", "user"=>"nowunoit", "user_name"=>"NowUNoIT", "user_profile_image"=>"http://a0.twimg.com/profile_images/1633115074/monkeysupriseface_normal.jpg"}
• {"id"=>"429903778180235264", "text"=>"PLOS ONE: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis http://t.co/Os7pE7kEFN", "created_at"=>"2014-02-02T09:07:02Z", "user"=>"CarolStottPhD", "user_name"=>"Carol Stott PhD", "user_profile_image"=>"http://pbs.twimg.com/profile_images/2976004751/bdcfcf41c3f48493fe4aa898afaafbfe_normal.jpeg"}
• {"id"=>"605085208652730369", "text"=>"Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis http://t.co/87D3eRafCh #SB277", "created_at"=>"2015-05-31T18:55:30Z", "user"=>"itsmepanda1", "user_name"=>"D. Marie", "user_profile_image"=>"http://pbs.twimg.com/profile_images/566279839762894848/d1HiA4l4_normal.jpeg"}
• {"id"=>"605138701987901440", "text"=>"RT @itsmepanda1: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis http://t.co/87D3eRafCh #SB277", "created_at"=>"2015-05-31T22:28:04Z", "user"=>"sburke85", "user_name"=>"Sean Burke", "user_profile_image"=>"http://pbs.twimg.com/profile_images/603010420761186305/cx2jjY_5_normal.jpg"}
• {"id"=>"779414918726422528", "text"=>":( A disturbance of MITOCHONDRIAL ENERGY prod. is an underlying pathophysiological mechanism in some with AUTISM. \n\nhttps://t.co/NvaKx712Qx", "created_at"=>"2016-09-23T20:19:32Z", "user"=>"cjud88", "user_name"=>"c j", "user_profile_image"=>"http://pbs.twimg.com/profile_images/722109964932636672/7wXDZGBU_normal.jpg"}
• {"id"=>"792947480459608064", "text"=>"RT @itsmepanda1: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis http://t.co/87D3eRafCh #SB277", "created_at"=>"2016-10-31T04:33:06Z", "user"=>"itsmepanda1", "user_name"=>"D. Marie", "user_profile_image"=>"http://pbs.twimg.com/profile_images/737813056403673088/UJZ2ecVX_normal.jpg"}
• {"id"=>"808054789829513217", "text"=>"RT @itsmepanda1: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis http://t.co/87D3eRafCh #SB277", "created_at"=>"2016-12-11T21:04:09Z", "user"=>"itsmepanda1", "user_name"=>"D. Marie", "user_profile_image"=>"http://pbs.twimg.com/profile_images/737813056403673088/UJZ2ecVX_normal.jpg"}
• {"id"=>"815757256302002176", "text"=>"Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis https://t.co/KFajvem1iq", "created_at"=>"2017-01-02T03:11:00Z", "user"=>"Organic_Mumzy", "user_name"=>"Organic_Mumzy ?", "user_profile_image"=>"http://pbs.twimg.com/profile_images/695403560633110528/PPkMqJJE_normal.jpg"}
• {"id"=>"837706722970120192", "text"=>"#Data suggest a clinical heterogeneity of people with #autism & defects of #mitochondrial oxidative phosphorylation https://t.co/Uwj9wzlhvE", "created_at"=>"2017-03-03T16:50:21Z", "user"=>"NASPGHAN", "user_name"=>"NASPGHAN", "user_profile_image"=>"http://pbs.twimg.com/profile_images/499966754068520960/pXVlazkK_normal.jpeg"}
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Figshare

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• {"files"=>["https://ndownloader.figshare.com/files/914682"], "description"=>"<p>Biochemical and Neuroimaging Data.</p>", "links"=>[], "tags"=>["neuroimaging"], "article_id"=>585135, "categories"=>["Medicine", "Neuroscience", "Genetics"], "users"=>["Jacqueline R. Weissman", "Richard I. Kelley", "Margaret L. Bauman", "Bruce H. Cohen", "Katherine F. Murray", "Rebecca L. Mitchell", "Rebecca L. Kern", "Marvin R. Natowicz"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0003815.t002", "stats"=>{"downloads"=>1, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Biochemical_and_Neuroimaging_Data_/585135", "title"=>"Biochemical and Neuroimaging Data.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2008-11-26 01:25:35"}
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• {"files"=>["https://ndownloader.figshare.com/files/914654"], "description"=>"<p>Muscle Histology and Ultrastructure.</p>", "links"=>[], "tags"=>["histology"], "article_id"=>585109, "categories"=>["Medicine", "Neuroscience", "Genetics"], "users"=>["Jacqueline R. Weissman", "Richard I. Kelley", "Margaret L. Bauman", "Bruce H. Cohen", "Katherine F. Murray", "Rebecca L. Mitchell", "Rebecca L. Kern", "Marvin R. Natowicz"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0003815.t003", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Muscle_Histology_and_Ultrastructure_/585109", "title"=>"Muscle Histology and Ultrastructure.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2008-11-26 01:25:09"}
• {"files"=>["https://ndownloader.figshare.com/files/452399", "https://ndownloader.figshare.com/files/452433", "https://ndownloader.figshare.com/files/452448", "https://ndownloader.figshare.com/files/452461", "https://ndownloader.figshare.com/files/452488", "https://ndownloader.figshare.com/files/452521"], "description"=>"<div><h3>Background</h3><p>Previous reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.</p><h3>Methodology/Principal Findings</h3><p>We reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity.</p><h3>Conclusions/Significance</h3><p>Although all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.</p></div>", "links"=>[], "tags"=>["mitochondrial", "autism", "cohort"], "article_id"=>149101, "categories"=>["Medicine", "Neuroscience", "Genetics"], "users"=>["Jacqueline R. Weissman", "Richard I. Kelley", "Margaret L. Bauman", "Bruce H. Cohen", "Katherine F. Murray", "Rebecca L. Mitchell", "Rebecca L. Kern", "Marvin R. Natowicz"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0003815.s001", "https://dx.doi.org/10.1371/journal.pone.0003815.s002", "https://dx.doi.org/10.1371/journal.pone.0003815.s003", "https://dx.doi.org/10.1371/journal.pone.0003815.s004", "https://dx.doi.org/10.1371/journal.pone.0003815.s005", "https://dx.doi.org/10.1371/journal.pone.0003815.s006"], "stats"=>{"downloads"=>16, "page_views"=>43, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Mitochondrial_Disease_in_Autism_Spectrum_Disorder_Patients_A_Cohort_Analysis/149101", "title"=>"Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2008-11-26 02:31:41"}

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• {"unique-ip"=>"22", "full-text"=>"38", "pdf"=>"5", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2020", "month"=>"9"}
• {"unique-ip"=>"15", "full-text"=>"18", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"8", "cited-by"=>"0", "year"=>"2020", "month"=>"10"}
• {"unique-ip"=>"21", "full-text"=>"26", "pdf"=>"4", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"11"}
• {"unique-ip"=>"14", "full-text"=>"14", "pdf"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"12"}
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Relative Metric

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F1000Prime