Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment
Objective To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews...
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| Veröffentlicht in: | The Journal of pediatrics 2016-04, Vol.171, p.220-226 |
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| creator | Akman, Cigdem Inan, MD Yu, Julia, BS Alter, Aliza, MD Engelstad, Kristin, BS De Vivo, Darryl C., MD |
| description | Objective To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Results Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: −0.17, 0.22, and 0.25 respectively, P |
| doi_str_mv | 10.1016/j.jpeds.2015.12.030 |
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Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Results Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: −0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. Conclusions Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2015.12.030</identifier><identifier>PMID: 26811264</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Age of Onset ; Anticonvulsants - therapeutic use ; Brain - growth & development ; Carbohydrate Metabolism, Inborn Errors - diagnosis ; Carbohydrate Metabolism, Inborn Errors - therapy ; Caregivers ; Child ; Child, Preschool ; Diet, Ketogenic ; Early Medical Intervention ; Epilepsy - diagnosis ; Eye Movements ; Female ; Glucose Transporter Type 1 - deficiency ; Humans ; Infant ; Infant, Newborn ; Male ; Medical Records ; Pediatrics ; Pediatrics - methods ; Retrospective Studies ; Seizures - diagnosis ; Seizures - drug therapy</subject><ispartof>The Journal of pediatrics, 2016-04, Vol.171, p.220-226</ispartof><rights>Elsevier Inc.</rights><rights>2016 Elsevier Inc.</rights><rights>Copyright © 2016 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c414t-8a3e5d02db748a59db417d974501f7c187665f7093e163de8148a79a48d893083</citedby><cites>FETCH-LOGICAL-c414t-8a3e5d02db748a59db417d974501f7c187665f7093e163de8148a79a48d893083</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022347615015425$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26811264$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Akman, Cigdem Inan, MD</creatorcontrib><creatorcontrib>Yu, Julia, BS</creatorcontrib><creatorcontrib>Alter, Aliza, MD</creatorcontrib><creatorcontrib>Engelstad, Kristin, BS</creatorcontrib><creatorcontrib>De Vivo, Darryl C., MD</creatorcontrib><title>Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Objective To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Results Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: −0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. Conclusions Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.</description><subject>Age of Onset</subject><subject>Anticonvulsants - therapeutic use</subject><subject>Brain - growth & development</subject><subject>Carbohydrate Metabolism, Inborn Errors - diagnosis</subject><subject>Carbohydrate Metabolism, Inborn Errors - therapy</subject><subject>Caregivers</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Diet, Ketogenic</subject><subject>Early Medical Intervention</subject><subject>Epilepsy - diagnosis</subject><subject>Eye Movements</subject><subject>Female</subject><subject>Glucose Transporter Type 1 - deficiency</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical Records</subject><subject>Pediatrics</subject><subject>Pediatrics - methods</subject><subject>Retrospective Studies</subject><subject>Seizures - diagnosis</subject><subject>Seizures - drug therapy</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1r3DAQhkVpSbZpfkGh6NiLHY0lW_KhhZJvCDSQ9Cy00jjI1cpbyQ7sv682m_bQS09C8LzvMM8Q8hFYDQy6s7Eet-hy3TBoa2hqxtkbsgLWy6pTnL8lK8aapuJCdsfkfc4jY6wXjB2R46ZTAE0nVkRfePMUp-zjE70Oi50y0sdkYt5OacZEgV7g4K3HaHfUzPQ2-tmbQO8TZoyzmf0U6ZWxPvjywUwvTQq7UoFm3hTgA3k3mJDx9PU9IT-uLh_Pb6q779e359_uKitAzJUyHFvHGreWQpm2d2sB0vVStAwGaUHJrmsHyXqO0HGHCgomeyOUUz1nip-Qz4febZp-LZhnvfHZYggm4rRkDbI08OKjLSg_oDZNOScc9Db5jUk7DUzvzepRv5jVe7MaGl3MltSn1wHLeoPub-aPygJ8OQBY1nz2mHR-0YbOJ7SzdpP_z4Cv_-Rt8NFbE37iDvM4LSkWgxp0LgH9sD_u_rZQFLWi7PUbypyfHA</recordid><startdate>20160401</startdate><enddate>20160401</enddate><creator>Akman, Cigdem Inan, MD</creator><creator>Yu, Julia, BS</creator><creator>Alter, Aliza, MD</creator><creator>Engelstad, Kristin, BS</creator><creator>De Vivo, Darryl C., MD</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20160401</creationdate><title>Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment</title><author>Akman, Cigdem Inan, MD ; Yu, Julia, BS ; Alter, Aliza, MD ; Engelstad, Kristin, BS ; De Vivo, Darryl C., MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c414t-8a3e5d02db748a59db417d974501f7c187665f7093e163de8148a79a48d893083</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Age of Onset</topic><topic>Anticonvulsants - therapeutic use</topic><topic>Brain - growth & development</topic><topic>Carbohydrate Metabolism, Inborn Errors - diagnosis</topic><topic>Carbohydrate Metabolism, Inborn Errors - therapy</topic><topic>Caregivers</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Diet, Ketogenic</topic><topic>Early Medical Intervention</topic><topic>Epilepsy - diagnosis</topic><topic>Eye Movements</topic><topic>Female</topic><topic>Glucose Transporter Type 1 - deficiency</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical Records</topic><topic>Pediatrics</topic><topic>Pediatrics - methods</topic><topic>Retrospective Studies</topic><topic>Seizures - diagnosis</topic><topic>Seizures - drug therapy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Akman, Cigdem Inan, MD</creatorcontrib><creatorcontrib>Yu, Julia, BS</creatorcontrib><creatorcontrib>Alter, Aliza, MD</creatorcontrib><creatorcontrib>Engelstad, Kristin, BS</creatorcontrib><creatorcontrib>De Vivo, Darryl C., MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Akman, Cigdem Inan, MD</au><au>Yu, Julia, BS</au><au>Alter, Aliza, MD</au><au>Engelstad, Kristin, BS</au><au>De Vivo, Darryl C., MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2016-04-01</date><risdate>2016</risdate><volume>171</volume><spage>220</spage><epage>226</epage><pages>220-226</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><abstract>Objective To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Results Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: −0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type. Conclusions Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>26811264</pmid><doi>10.1016/j.jpeds.2015.12.030</doi><tpages>7</tpages></addata></record> |
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| subjects | Age of Onset Anticonvulsants - therapeutic use Brain - growth & development Carbohydrate Metabolism, Inborn Errors - diagnosis Carbohydrate Metabolism, Inborn Errors - therapy Caregivers Child Child, Preschool Diet, Ketogenic Early Medical Intervention Epilepsy - diagnosis Eye Movements Female Glucose Transporter Type 1 - deficiency Humans Infant Infant, Newborn Male Medical Records Pediatrics Pediatrics - methods Retrospective Studies Seizures - diagnosis Seizures - drug therapy |
| title | Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment |
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