Childhood‐onset restless legs syndrome: Clinical and genetic features of 22 families
Identifieur interne : 002948 ( Main/Exploration ); précédent : 002947; suivant : 002949Childhood‐onset restless legs syndrome: Clinical and genetic features of 22 families
Auteurs : Hiltrud Muhle [Allemagne] ; Anja Neumann [Allemagne] ; Katja Lohmann-Hedrich [Allemagne] ; Thora Lohnau [Allemagne] ; Yang Lu [Allemagne, République populaire de Chine] ; Susen Winkler [Allemagne] ; Stephan Waltz [Allemagne] ; Anke Fischenbeck [Allemagne] ; Patricia L. Kramer [États-Unis] ; Christine Klein [Allemagne] ; Ulrich Stephani [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-06-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Adolescent, Age of Onset, Alleles, Attention Deficit Disorder with Hyperactivity (diagnosis), Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Diagnosis, Differential, Female, Genes, Dominant (genetics), Genetic Predisposition to Disease (genetics), Genotype, Haplotypes, Humans, Infant, Male, Microsatellite Repeats, Nervous system diseases, Pedigree, Polymorphism, Single Nucleotide (genetics), Restless Legs Syndrome (diagnosis), Restless Legs Syndrome (genetics), Restless legs syndrome, children, clinical course, genetics.
- MESH :
- diagnosis : Attention Deficit Disorder with Hyperactivity, Restless Legs Syndrome.
- genetics : Genes, Dominant, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Restless Legs Syndrome.
- Adolescent, Age of Onset, Alleles, Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Diagnosis, Differential, Female, Genotype, Haplotypes, Humans, Infant, Male, Microsatellite Repeats, Pedigree.
Abstract
Restless legs syndrome (RLS) is a sensory‐motor disorder that is underdiagnosed in children and often misclassified as attention deficit hyperactivity disorder. Five different gene loci (RLS1‐5) and three susceptibility loci have been identified in adult‐onset RLS. We included 23 children with RLS (age at onset ≤14 years) from 22 families. In 14 families, we performed linkage and genotype analyses. Of the 23 RLS patients, only seven (30.4%) were admitted for a suspected diagnosis of RLS. Five patients had a retrospectively established onset at an age as early as 1 year. The most frequent complaint in patients were sleep problems (21 of 23; 91%) resulting in fatigue in 14 children (60.9%). Twelve of the 19 tested cases (63.2%) exhibited an index of periodic limb movements in sleep greater than 5. Dopaminergic therapy was successful in 12 of 14 treated patients (85.7%). Family history for RLS was positive in 20 of 23 children (87.0%) and compatible with an autosomal dominant inheritance pattern. Linkage analysis excluded all five loci in two families. A trend for an association at two of the three reported susceptibility regions was observed. RLS symptoms can occur in early childhood. The positive family history suggests a genetic cause in most families with at least one additional RLS gene locus. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22016
Affiliations:
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sortKey="Lu, Yang" sort="Lu, Yang" uniqKey="Lu Y" first="Yang" last="Lu">Yang Lu</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>The First Affiliated Hospital of Chongqing Medical University, Chongqing</wicri:regionArea><wicri:noRegion>Chongqing</wicri:noRegion></affiliation></author><author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" 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Kramer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neuropediatrics, University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-06-15">2008-06-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1113">1113</biblScope><biblScope unit="page" to="1121">1121</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A90C97F84ED3C5D4973B4FD7E2C38815B84FEE8F</idno><idno type="DOI">10.1002/mds.22016</idno><idno type="ArticleID">MDS22016</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Alleles</term><term>Attention Deficit Disorder with Hyperactivity (diagnosis)</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Diagnosis, Differential</term><term>Female</term><term>Genes, Dominant (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Infant</term><term>Male</term><term>Microsatellite Repeats</term><term>Nervous system diseases</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Restless Legs Syndrome (diagnosis)</term><term>Restless Legs Syndrome (genetics)</term><term>Restless legs syndrome</term><term>children</term><term>clinical course</term><term>genetics</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Attention Deficit Disorder with Hyperactivity</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genes, Dominant</term><term>Genetic Predisposition to Disease</term><term>Polymorphism, Single Nucleotide</term><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Alleles</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Diagnosis, Differential</term><term>Female</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Infant</term><term>Male</term><term>Microsatellite Repeats</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Enfant</term><term>Pathologie du système nerveux</term><term>Syndrome des jambes sans repos</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Restless legs syndrome (RLS) is a sensory‐motor disorder that is underdiagnosed in children and often misclassified as attention deficit hyperactivity disorder. Five different gene loci (RLS1‐5) and three susceptibility loci have been identified in adult‐onset RLS. We included 23 children with RLS (age at onset ≤14 years) from 22 families. In 14 families, we performed linkage and genotype analyses. Of the 23 RLS patients, only seven (30.4%) were admitted for a suspected diagnosis of RLS. Five patients had a retrospectively established onset at an age as early as 1 year. The most frequent complaint in patients were sleep problems (21 of 23; 91%) resulting in fatigue in 14 children (60.9%). Twelve of the 19 tested cases (63.2%) exhibited an index of periodic limb movements in sleep greater than 5. Dopaminergic therapy was successful in 12 of 14 treated patients (85.7%). Family history for RLS was positive in 20 of 23 children (87.0%) and compatible with an autosomal dominant inheritance pattern. Linkage analysis excluded all five loci in two families. A trend for an association at two of the three reported susceptibility regions was observed. RLS symptoms can occur in early childhood. The positive family history suggests a genetic cause in most families with at least one additional RLS gene locus. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>République populaire de Chine</li><li>États-Unis</li></country><region><li>Oregon</li><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li></settlement></list><tree><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Muhle, Hiltrud" sort="Muhle, Hiltrud" uniqKey="Muhle H" first="Hiltrud" last="Muhle">Hiltrud Muhle</name></region><name sortKey="Fischenbeck, Anke" sort="Fischenbeck, Anke" uniqKey="Fischenbeck A" first="Anke" last="Fischenbeck">Anke Fischenbeck</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann Edrich, Katja" sort="Lohmann Edrich, Katja" uniqKey="Lohmann Edrich K" first="Katja" last="Lohmann-Hedrich">Katja Lohmann-Hedrich</name><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><name sortKey="Lu, Yang" sort="Lu, Yang" uniqKey="Lu Y" first="Yang" last="Lu">Yang Lu</name><name sortKey="Lu, Yang" sort="Lu, Yang" uniqKey="Lu Y" first="Yang" last="Lu">Yang Lu</name><name sortKey="Neumann, Anja" sort="Neumann, Anja" uniqKey="Neumann A" first="Anja" last="Neumann">Anja Neumann</name><name sortKey="Neumann, Anja" sort="Neumann, Anja" uniqKey="Neumann A" first="Anja" last="Neumann">Anja Neumann</name><name sortKey="Stephani, Ulrich" sort="Stephani, Ulrich" uniqKey="Stephani U" first="Ulrich" last="Stephani">Ulrich Stephani</name><name sortKey="Waltz, Stephan" sort="Waltz, Stephan" uniqKey="Waltz S" first="Stephan" last="Waltz">Stephan Waltz</name><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Lu, Yang" sort="Lu, Yang" uniqKey="Lu Y" first="Yang" last="Lu">Yang Lu</name></noRegion></country><country name="États-Unis"><region name="Oregon"><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L." last="Kramer">Patricia L. 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