Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Identifieur interne : 000544 ( PubMed/Curation ); précédent : 000543; suivant : 000545Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Auteurs : Erik Boot [Canada] ; Nancy J. Butcher ; Thérèse A M J. Van Amelsvoort ; Anthony E. Lang ; Connie Marras ; Margarita Pondal ; Danielle M. Andrade ; Wai Lun Alan Fung ; Anne S. BassettSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2015.
English descriptors
- KwdEn :
- Adult, Clozapine (adverse effects), DiGeorge Syndrome (complications), DiGeorge Syndrome (diagnosis), DiGeorge Syndrome (genetics), Diagnosis, Differential, Female, Humans, Male, Middle Aged, Movement Disorders (complications), Movement Disorders (diagnosis), Movement Disorders (etiology), Myoclonus (chemically induced), Myoclonus (diagnosis), Parkinsonian Disorders, Patellar Dislocation (complications), Patellar Dislocation (diagnosis), Phenotype, Spinal Cord Compression (complications), Spinal Cord Compression (diagnosis), Tremor, Young Adult.
- MESH :
- chemical , adverse effects : Clozapine.
- chemically induced : Myoclonus.
- complications : DiGeorge Syndrome, Movement Disorders, Patellar Dislocation, Spinal Cord Compression.
- diagnosis : DiGeorge Syndrome, Movement Disorders, Myoclonus, Patellar Dislocation, Spinal Cord Compression.
- etiology : Movement Disorders.
- genetics : DiGeorge Syndrome.
- Adult, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Parkinsonian Disorders, Phenotype, Tremor, Young Adult.
Abstract
Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.
DOI: 10.1002/ajmg.a.36928
PubMed: 25684639
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Butcher</name></author><author><name sortKey="Van Amelsvoort, Therese A M J" sort="Van Amelsvoort, Therese A M J" uniqKey="Van Amelsvoort T" first="Thérèse A M J" last="Van Amelsvoort">Thérèse A M J. Van Amelsvoort</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></author><author><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></author><author><name sortKey="Pondal, Margarita" sort="Pondal, Margarita" uniqKey="Pondal M" first="Margarita" last="Pondal">Margarita Pondal</name></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name></author><author><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name></author><author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Clozapine (adverse effects)</term><term>DiGeorge Syndrome (complications)</term><term>DiGeorge Syndrome (diagnosis)</term><term>DiGeorge Syndrome (genetics)</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (complications)</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (etiology)</term><term>Myoclonus (chemically induced)</term><term>Myoclonus (diagnosis)</term><term>Parkinsonian Disorders</term><term>Patellar Dislocation (complications)</term><term>Patellar Dislocation (diagnosis)</term><term>Phenotype</term><term>Spinal Cord Compression (complications)</term><term>Spinal Cord Compression (diagnosis)</term><term>Tremor</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Clozapine</term></keywords><keywords scheme="MESH" qualifier="chemically induced" xml:lang="en"><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>DiGeorge Syndrome</term><term>Movement Disorders</term><term>Patellar Dislocation</term><term>Spinal Cord Compression</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>DiGeorge Syndrome</term><term>Movement Disorders</term><term>Myoclonus</term><term>Patellar Dislocation</term><term>Spinal Cord Compression</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DiGeorge Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinsonian Disorders</term><term>Phenotype</term><term>Tremor</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25684639</PMID><DateCreated><Year>2015</Year><Month>02</Month><Day>18</Day></DateCreated><DateCompleted><Year>2016</Year><Month>04</Month><Day>29</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1552-4833</ISSN><JournalIssue CitedMedium="Internet"><Volume>167A</Volume><Issue>3</Issue><PubDate><Year>2015</Year><Month>Mar</Month></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.</ArticleTitle><Pagination><MedlinePgn>639-45</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ajmg.a.36928</ELocationID><Abstract><AbstractText>Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.</AbstractText><CopyrightInformation>© 2015 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Boot</LastName><ForeName>Erik</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario, Canada; Department of Nuclear Medicine, Academic Medical Centre, Amsterdam, The Netherlands; Department of Psychiatry, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Butcher</LastName><ForeName>Nancy J</ForeName><Initials>NJ</Initials></Author><Author ValidYN="Y"><LastName>van Amelsvoort</LastName><ForeName>Thérèse A M J</ForeName><Initials>TA</Initials></Author><Author ValidYN="Y"><LastName>Lang</LastName><ForeName>Anthony E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Marras</LastName><ForeName>Connie</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Pondal</LastName><ForeName>Margarita</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Andrade</LastName><ForeName>Danielle M</ForeName><Initials>DM</Initials></Author><Author ValidYN="Y"><LastName>Fung</LastName><ForeName>Wai Lun Alan</ForeName><Initials>WL</Initials></Author><Author ValidYN="Y"><LastName>Bassett</LastName><ForeName>Anne S</ForeName><Initials>AS</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>107520-1</GrantID><Agency>Canadian Institutes of Health Research</Agency><Country>Canada</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType 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RefType="Cites"><RefSource>Am J Med Genet A. 2010 Nov;152A(11):2937-8</RefSource><PMID Version="1">20949509</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003024" MajorTopicYN="N">Clozapine</DescriptorName><QualifierName UI="Q000009" MajorTopicYN="N">adverse effects</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004062" MajorTopicYN="N">DiGeorge Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003937" MajorTopicYN="N">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" 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