Patients With Rett Syndrome Sustain Low-Energy Fractures
We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associ...
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| Veröffentlicht in: | Pediatric research 2011-04, Vol.69 (4), p.359-364 |
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| creator | Roende, Gitte Ravn, Kirstine Fuglsang, Kathrine Andersen, Henrik Vestergaard, Aage BrøNdum-Nielsen, Karen Jensen, Jens-Erik Beck Nielsen, Jytte Bieber |
| description | We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (
MECP2
) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with
MECP2
mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT. |
| doi_str_mv | 10.1203/PDR.0b013e31820bc6d3 |
| format | Article |
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MECP2
) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with
MECP2
mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.</description><identifier>ISSN: 0031-3998</identifier><identifier>EISSN: 1530-0447</identifier><identifier>DOI: 10.1203/PDR.0b013e31820bc6d3</identifier><identifier>PMID: 21178819</identifier><identifier>CODEN: PEREBL</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>692/499 ; 692/699/375/366 ; 692/699/578 ; Adolescent ; Adult ; Biological and medical sciences ; Case-Control Studies ; Child ; clinical-investigation ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Denmark ; Female ; Fractures, Bone - etiology ; Fractures, Bone - genetics ; General aspects ; Humans ; Medical sciences ; Medicine ; Medicine & Public Health ; Methyl-CpG-Binding Protein 2 - genetics ; Middle Aged ; Mutation ; Neurology ; Pediatric Surgery ; Pediatrics ; Registries ; Rett Syndrome - complications ; Rett Syndrome - genetics ; Risk Factors ; Young Adult</subject><ispartof>Pediatric research, 2011-04, Vol.69 (4), p.359-364</ispartof><rights>International Pediatrics Research Foundation, Inc. 2011</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c428t-1dc158562f4208a96c7a3365076182ea37cdd64b686918d74121b1eaef98d8fa3</citedby><cites>FETCH-LOGICAL-c428t-1dc158562f4208a96c7a3365076182ea37cdd64b686918d74121b1eaef98d8fa3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23977866$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21178819$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roende, Gitte</creatorcontrib><creatorcontrib>Ravn, Kirstine</creatorcontrib><creatorcontrib>Fuglsang, Kathrine</creatorcontrib><creatorcontrib>Andersen, Henrik</creatorcontrib><creatorcontrib>Vestergaard, Aage</creatorcontrib><creatorcontrib>BrøNdum-Nielsen, Karen</creatorcontrib><creatorcontrib>Jensen, Jens-Erik Beck</creatorcontrib><creatorcontrib>Nielsen, Jytte Bieber</creatorcontrib><title>Patients With Rett Syndrome Sustain Low-Energy Fractures</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><addtitle>Pediatr Res</addtitle><description>We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (
MECP2
) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with
MECP2
mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.</description><subject>692/499</subject><subject>692/699/375/366</subject><subject>692/699/578</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>clinical-investigation</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Denmark</subject><subject>Female</subject><subject>Fractures, Bone - etiology</subject><subject>Fractures, Bone - genetics</subject><subject>General aspects</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Methyl-CpG-Binding Protein 2 - genetics</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Registries</subject><subject>Rett Syndrome - complications</subject><subject>Rett Syndrome - genetics</subject><subject>Risk Factors</subject><subject>Young Adult</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1Lw0AQhhdRbK3-A5FcxFN0J_uRzVFqq0LB0ioel81mU1OSTd3dIP33RloVPHiawzzvzMuD0Dnga0gwuZnfLa5xjoEYAiLBueYFOUBDYATHmNL0EA0xJhCTLBMDdOL9GmOgTNBjNEgAUiEgGyIxV6EyNvjotQpv0cKEEC23tnBtY6Jl54OqbDRrP-KJNW61jaZO6dA540_RUalqb872c4ReppPn8UM8e7p_HN_OYk0TEWIoNDDBeFLSBAuVcZ0qQjjDKe9bG0VSXRSc5lzwDESRUkggB6NMmYlClIqM0NXu7sa1753xQTaV16aulTVt56VgLMGU90ZGiO5I7VrvnSnlxlWNclsJWH4pk70y-VdZH7vYP-jyxhQ_oW9HPXC5B5TXqi6dsrryvxzJ0lRw3nNsx_l-ZVfGyXXbOdvL-b_AJ1aUhNU</recordid><startdate>20110401</startdate><enddate>20110401</enddate><creator>Roende, Gitte</creator><creator>Ravn, Kirstine</creator><creator>Fuglsang, Kathrine</creator><creator>Andersen, Henrik</creator><creator>Vestergaard, Aage</creator><creator>BrøNdum-Nielsen, Karen</creator><creator>Jensen, Jens-Erik Beck</creator><creator>Nielsen, Jytte Bieber</creator><general>Nature Publishing Group US</general><general>Lippincott Williams & Wilkins</general><scope>IQODW</scope><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>20110401</creationdate><title>Patients With Rett Syndrome Sustain Low-Energy Fractures</title><author>Roende, Gitte ; Ravn, Kirstine ; Fuglsang, Kathrine ; Andersen, Henrik ; Vestergaard, Aage ; BrøNdum-Nielsen, Karen ; Jensen, Jens-Erik Beck ; Nielsen, Jytte Bieber</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c428t-1dc158562f4208a96c7a3365076182ea37cdd64b686918d74121b1eaef98d8fa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>692/499</topic><topic>692/699/375/366</topic><topic>692/699/578</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>clinical-investigation</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Denmark</topic><topic>Female</topic><topic>Fractures, Bone - etiology</topic><topic>Fractures, Bone - genetics</topic><topic>General aspects</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Methyl-CpG-Binding Protein 2 - genetics</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Registries</topic><topic>Rett Syndrome - complications</topic><topic>Rett Syndrome - genetics</topic><topic>Risk Factors</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roende, Gitte</creatorcontrib><creatorcontrib>Ravn, Kirstine</creatorcontrib><creatorcontrib>Fuglsang, Kathrine</creatorcontrib><creatorcontrib>Andersen, Henrik</creatorcontrib><creatorcontrib>Vestergaard, Aage</creatorcontrib><creatorcontrib>BrøNdum-Nielsen, Karen</creatorcontrib><creatorcontrib>Jensen, Jens-Erik Beck</creatorcontrib><creatorcontrib>Nielsen, Jytte Bieber</creatorcontrib><collection>Pascal-Francis</collection><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>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Roende, Gitte</au><au>Ravn, Kirstine</au><au>Fuglsang, Kathrine</au><au>Andersen, Henrik</au><au>Vestergaard, Aage</au><au>BrøNdum-Nielsen, Karen</au><au>Jensen, Jens-Erik Beck</au><au>Nielsen, Jytte Bieber</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patients With Rett Syndrome Sustain Low-Energy Fractures</atitle><jtitle>Pediatric research</jtitle><stitle>Pediatr Res</stitle><addtitle>Pediatr Res</addtitle><date>2011-04-01</date><risdate>2011</risdate><volume>69</volume><issue>4</issue><spage>359</spage><epage>364</epage><pages>359-364</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><coden>PEREBL</coden><abstract>We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to methyl-CpG-binding protein 2 (
MECP2
) mutations. A total of 61 female patients with RTT and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, and clinical and x-ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that patients with RTT sustained significantly more low-energy fractures from early age compared with controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with
MECP2
mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>21178819</pmid><doi>10.1203/PDR.0b013e31820bc6d3</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 692/499 692/699/375/366 692/699/578 Adolescent Adult Biological and medical sciences Case-Control Studies Child clinical-investigation Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Denmark Female Fractures, Bone - etiology Fractures, Bone - genetics General aspects Humans Medical sciences Medicine Medicine & Public Health Methyl-CpG-Binding Protein 2 - genetics Middle Aged Mutation Neurology Pediatric Surgery Pediatrics Registries Rett Syndrome - complications Rett Syndrome - genetics Risk Factors Young Adult |
| title | Patients With Rett Syndrome Sustain Low-Energy Fractures |
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