Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome
Identifieur interne : 000638 ( Main/Exploration ); précédent : 000637; suivant : 000639Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome
Auteurs : Erik Boot [Canada, Pays-Bas] ; Nancy J. Butcher [Canada] ; Thérèse Amj Van Amelsvoort [Pays-Bas] ; Anthony E. Lang [Canada] ; Connie Marras [Canada] ; Margarita Pondal [Canada] ; Danielle M. Andrade [Canada] ; Wai Lun Alan Fung [Canada] ; Anne S. Bassett [Canada]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 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.
Url:
DOI: 10.1002/ajmg.a.36928
PubMed: 25684639
PubMed Central: 4459830
Affiliations:
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Le document en format XML
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<affiliation wicri:level="4"><nlm:aff id="A8">Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A11">Morton and Gloria Shulman Movement Disorder Centre and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Morton and Gloria Shulman Movement Disorder Centre and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pondal, Margarita" sort="Pondal, Margarita" uniqKey="Pondal M" first="Margarita" last="Pondal">Margarita Pondal</name>
<affiliation wicri:level="1"><nlm:aff id="A11">Morton and Gloria Shulman Movement Disorder Centre and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Morton and Gloria Shulman Movement Disorder Centre and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A12">Epilepsy Genetics Program, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Epilepsy Genetics Program, Toronto Western Hospital, University Health Network and University of Toronto, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</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>
<affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Psychiatry, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A5">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A13">Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Psychiatry, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A5">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A6">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Institute of Medical Science, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A13">Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A14">Department of Medicine, Division of Cardiology, University Health Network, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, Division of Cardiology, University Health Network, Toronto, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American journal of medical genetics. Part A</title>
<idno type="ISSN">1552-4825</idno>
<idno type="eISSN">1552-4833</idno>
<imprint><date when="2015">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"><p id="P1">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.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Pays-Bas</li>
</country>
<region><li>Hollande-Septentrionale</li>
<li>Ontario</li>
</region>
<settlement><li>Amsterdam</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name>
</noRegion>
<name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name>
<name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M" last="Andrade">Danielle M. Andrade</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S" last="Bassett">Anne S. Bassett</name>
<name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name>
<name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name>
<name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J" last="Butcher">Nancy J. Butcher</name>
<name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J" last="Butcher">Nancy J. Butcher</name>
<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>
<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>
<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>
<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>
<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>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name>
<name sortKey="Pondal, Margarita" sort="Pondal, Margarita" uniqKey="Pondal M" first="Margarita" last="Pondal">Margarita Pondal</name>
</country>
<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name>
</region>
<name sortKey="Van Amelsvoort, Therese Amj" sort="Van Amelsvoort, Therese Amj" uniqKey="Van Amelsvoort T" first="Thérèse Amj" last="Van Amelsvoort">Thérèse Amj Van Amelsvoort</name>
</country>
</tree>
</affiliations>
</record>
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