Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Identifieur interne : 002039 ( Pmc/Checkpoint ); précédent : 002038; suivant : 002040Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Auteurs : Latha Soorya [États-Unis] ; Alexander Kolevzon [États-Unis] ; Jessica Zweifach [États-Unis] ; Teresa Lim [États-Unis] ; Yuriy Dobry [États-Unis] ; Lily Schwartz [États-Unis] ; Yitzchak Frank [États-Unis] ; A Ting Wang [États-Unis] ; Guiqing Cai [États-Unis] ; Elena Parkhomenko [États-Unis] ; Danielle Halpern [États-Unis] ; David Grodberg [États-Unis] ; Benjamin Angarita [États-Unis] ; Judith P. Willner [États-Unis] ; Amy Yang [États-Unis] ; Roberto Canitano [États-Unis, Italie] ; William Chaplin [États-Unis] ; Catalina Betancur [France] ; Joseph D. Buxbaum [États-Unis]Source :
- Molecular Autism [ 2040-2392 ] ; 2013.
Abstract
22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features.
A serially ascertained sample of patients with
Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with
This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in
Url:
DOI: 10.1186/2040-2392-4-18
PubMed: 23758760
PubMed Central: 3707861
Affiliations:
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and <italic>SHANK3</italic>
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</affiliation>
</author>
<author><name sortKey="Kolevzon, Alexander" sort="Kolevzon, Alexander" uniqKey="Kolevzon A" first="Alexander" last="Kolevzon">Alexander Kolevzon</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zweifach, Jessica" sort="Zweifach, Jessica" uniqKey="Zweifach J" first="Jessica" last="Zweifach">Jessica Zweifach</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lim, Teresa" sort="Lim, Teresa" uniqKey="Lim T" first="Teresa" last="Lim">Teresa Lim</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dobry, Yuriy" sort="Dobry, Yuriy" uniqKey="Dobry Y" first="Yuriy" last="Dobry">Yuriy Dobry</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwartz, Lily" sort="Schwartz, Lily" uniqKey="Schwartz L" first="Lily" last="Schwartz">Lily Schwartz</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frank, Yitzchak" sort="Frank, Yitzchak" uniqKey="Frank Y" first="Yitzchak" last="Frank">Yitzchak Frank</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I4">Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wang, A Ting" sort="Wang, A Ting" uniqKey="Wang A" first="A Ting" last="Wang">A Ting Wang</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I5">Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cai, Guiqing" sort="Cai, Guiqing" uniqKey="Cai G" first="Guiqing" last="Cai">Guiqing Cai</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I6">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Parkhomenko, Elena" sort="Parkhomenko, Elena" uniqKey="Parkhomenko E" first="Elena" last="Parkhomenko">Elena Parkhomenko</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Halpern, Danielle" sort="Halpern, Danielle" uniqKey="Halpern D" first="Danielle" last="Halpern">Danielle Halpern</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Grodberg, David" sort="Grodberg, David" uniqKey="Grodberg D" first="David" last="Grodberg">David Grodberg</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Angarita, Benjamin" sort="Angarita, Benjamin" uniqKey="Angarita B" first="Benjamin" last="Angarita">Benjamin Angarita</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Willner, Judith P" sort="Willner, Judith P" uniqKey="Willner J" first="Judith P" last="Willner">Judith P. Willner</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I6">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yang, Amy" sort="Yang, Amy" uniqKey="Yang A" first="Amy" last="Yang">Amy Yang</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I6">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Canitano, Roberto" sort="Canitano, Roberto" uniqKey="Canitano R" first="Roberto" last="Canitano">Roberto Canitano</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I14">Present address: Division of Child Neuropsychiatry, General University Hospital of Siena, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Present address: Division of Child Neuropsychiatry, General University Hospital of Siena, Siena</wicri:regionArea>
<wicri:noRegion>Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chaplin, William" sort="Chaplin, William" uniqKey="Chaplin W" first="William" last="Chaplin">William Chaplin</name>
<affiliation wicri:level="1"><nlm:aff id="I8">Department of Psychology, St John’s University, Jamaica, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychology, St John’s University, Jamaica, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
<affiliation wicri:level="3"><nlm:aff id="I9">INSERM U952, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U952, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="I10">CNRS UMR 7224, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR 7224, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="I11">Université Pierre et Marie Curie, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Pierre et Marie Curie, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Pierre-et-Marie-Curie</orgName>
</affiliation>
</author>
<author><name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I2">Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I5">Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I6">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I7">Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I12">Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Autism</title>
<idno type="eISSN">2040-2392</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. <italic>SHANK3</italic>
has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of <italic>SHANK3</italic>
deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with <italic>SHANK3</italic>
deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome.</p>
</sec>
<sec><title>Methods</title>
<p>A serially ascertained sample of patients with <italic>SHANK3</italic>
deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.</p>
</sec>
<sec><title>Results</title>
<p>Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with <italic>de novo SHANK3</italic>
mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to <italic>SHANK3</italic>
haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.</p>
</sec>
<sec><title>Conclusions</title>
<p>This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in <italic>SHANK3</italic>
deficiency, and highlights the prominence of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in <italic>SHANK3</italic>
deficiency.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Phelan, K" uniqKey="Phelan K">K Phelan</name>
</author>
<author><name sortKey="Rogers, C" uniqKey="Rogers C">C Rogers</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Durand, Cm" uniqKey="Durand C">CM Durand</name>
</author>
<author><name sortKey="Betancur, C" uniqKey="Betancur C">C Betancur</name>
</author>
<author><name sortKey="Boeckers, Tm" uniqKey="Boeckers T">TM Boeckers</name>
</author>
<author><name sortKey="Bockmann, J" uniqKey="Bockmann J">J Bockmann</name>
</author>
<author><name sortKey="Chaste, P" uniqKey="Chaste P">P Chaste</name>
</author>
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<author><name sortKey="Nygren, G" uniqKey="Nygren G">G Nygren</name>
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</author>
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</author>
<author><name sortKey="Anckarsater, H" uniqKey="Anckarsater H">H Anckarsater</name>
</author>
<author><name sortKey="Sponheim, E" uniqKey="Sponheim E">E Sponheim</name>
</author>
<author><name sortKey="Goubran Botros, H" uniqKey="Goubran Botros H">H Goubran-Botros</name>
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<author><name sortKey="Mouren Simeoni, Mc" uniqKey="Mouren Simeoni M">MC Mouren-Simeoni</name>
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<author><name sortKey="De Mas, P" uniqKey="De Mas P">P de Mas</name>
</author>
<author><name sortKey="Bieth, E" uniqKey="Bieth E">E Bieth</name>
</author>
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</author>
<author><name sortKey="Heron, D" uniqKey="Heron D">D Heron</name>
</author>
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</author>
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</author>
<author><name sortKey="Leboyer, M" uniqKey="Leboyer M">M Leboyer</name>
</author>
<author><name sortKey="Bourgeron, T" uniqKey="Bourgeron T">T Bourgeron</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Moessner, R" uniqKey="Moessner R">R Moessner</name>
</author>
<author><name sortKey="Marshall, Cr" uniqKey="Marshall C">CR Marshall</name>
</author>
<author><name sortKey="Sutcliffe, Js" uniqKey="Sutcliffe J">JS Sutcliffe</name>
</author>
<author><name sortKey="Skaug, J" uniqKey="Skaug J">J Skaug</name>
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<journal-id journal-id-type="iso-abbrev">Mol Autism</journal-id>
<journal-title-group><journal-title>Molecular Autism</journal-title>
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<publisher><publisher-name>BioMed Central</publisher-name>
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<article-id pub-id-type="pmc">3707861</article-id>
<article-id pub-id-type="publisher-id">2040-2392-4-18</article-id>
<article-id pub-id-type="doi">10.1186/2040-2392-4-18</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research</subject>
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<email>benjamin.angarita@mssm.edu</email>
</contrib>
<contrib contrib-type="author" id="A14"><name><surname>Willner</surname>
<given-names>Judith P</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<xref ref-type="aff" rid="I6">6</xref>
<email>judith.willner@mssm.edu</email>
</contrib>
<contrib contrib-type="author" id="A15"><name><surname>Yang</surname>
<given-names>Amy</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<xref ref-type="aff" rid="I6">6</xref>
<email>amy.yang@mssm.edu</email>
</contrib>
<contrib contrib-type="author" id="A16"><name><surname>Canitano</surname>
<given-names>Roberto</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I14">14</xref>
<email>r.canitano@ao-siena.toscana.it</email>
</contrib>
<contrib contrib-type="author" id="A17"><name><surname>Chaplin</surname>
<given-names>William</given-names>
</name>
<xref ref-type="aff" rid="I8">8</xref>
<email>chaplinw@stjohns.edu</email>
</contrib>
<contrib contrib-type="author" id="A18"><name><surname>Betancur</surname>
<given-names>Catalina</given-names>
</name>
<xref ref-type="aff" rid="I9">9</xref>
<xref ref-type="aff" rid="I10">10</xref>
<xref ref-type="aff" rid="I11">11</xref>
<email>Catalina.Betancur@inserm.fr</email>
</contrib>
<contrib contrib-type="author" id="A19"><name><surname>Buxbaum</surname>
<given-names>Joseph D</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<xref ref-type="aff" rid="I2">2</xref>
<xref ref-type="aff" rid="I5">5</xref>
<xref ref-type="aff" rid="I6">6</xref>
<xref ref-type="aff" rid="I7">7</xref>
<xref ref-type="aff" rid="I12">12</xref>
<email>joseph.buxbaum@mssm.edu</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I2"><label>2</label>
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I3"><label>3</label>
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I4"><label>4</label>
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I5"><label>5</label>
Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I6"><label>6</label>
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I7"><label>7</label>
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I8"><label>8</label>
Department of Psychology, St John’s University, Jamaica, NY, USA</aff>
<aff id="I9"><label>9</label>
INSERM U952, Paris, France</aff>
<aff id="I10"><label>10</label>
CNRS UMR 7224, Paris, France</aff>
<aff id="I11"><label>11</label>
Université Pierre et Marie Curie, Paris, France</aff>
<aff id="I12"><label>12</label>
Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA</aff>
<aff id="I13"><label>13</label>
Present address: Department of Psychiatry, Rush University Medical Center, Chicago, IL, USA</aff>
<aff id="I14"><label>14</label>
Present address: Division of Child Neuropsychiatry, General University Hospital of Siena, Siena, Italy</aff>
<pub-date pub-type="collection"><year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>11</day>
<month>6</month>
<year>2013</year>
</pub-date>
<volume>4</volume>
<fpage>18</fpage>
<lpage>18</lpage>
<history><date date-type="received"><day>12</day>
<month>2</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>23</day>
<month>4</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2013 Soorya et al.; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2013</copyright-year>
<copyright-holder>Soorya et al.; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.molecularautism.com/content/4/1/18"></self-uri>
<abstract><sec><title>Background</title>
<p>22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. <italic>SHANK3</italic>
has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of <italic>SHANK3</italic>
deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with <italic>SHANK3</italic>
deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome.</p>
</sec>
<sec><title>Methods</title>
<p>A serially ascertained sample of patients with <italic>SHANK3</italic>
deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G.</p>
</sec>
<sec><title>Results</title>
<p>Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with <italic>de novo SHANK3</italic>
mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to <italic>SHANK3</italic>
haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features.</p>
</sec>
<sec><title>Conclusions</title>
<p>This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in <italic>SHANK3</italic>
deficiency, and highlights the prominence of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in <italic>SHANK3</italic>
deficiency.</p>
</sec>
</abstract>
<kwd-group><kwd>22q13 deletion syndrome</kwd>
<kwd>Autism</kwd>
<kwd>Microarrays</kwd>
<kwd>Mutation</kwd>
<kwd>Phelan-McDermid syndrome</kwd>
<kwd>SHANK3</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>France</li>
<li>Italie</li>
<li>États-Unis</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
<orgName><li>Université Pierre-et-Marie-Curie</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Soorya, Latha" sort="Soorya, Latha" uniqKey="Soorya L" first="Latha" last="Soorya">Latha Soorya</name>
</noRegion>
<name sortKey="Angarita, Benjamin" sort="Angarita, Benjamin" uniqKey="Angarita B" first="Benjamin" last="Angarita">Benjamin Angarita</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Buxbaum, Joseph D" sort="Buxbaum, Joseph D" uniqKey="Buxbaum J" first="Joseph D" last="Buxbaum">Joseph D. Buxbaum</name>
<name sortKey="Cai, Guiqing" sort="Cai, Guiqing" uniqKey="Cai G" first="Guiqing" last="Cai">Guiqing Cai</name>
<name sortKey="Cai, Guiqing" sort="Cai, Guiqing" uniqKey="Cai G" first="Guiqing" last="Cai">Guiqing Cai</name>
<name sortKey="Cai, Guiqing" sort="Cai, Guiqing" uniqKey="Cai G" first="Guiqing" last="Cai">Guiqing Cai</name>
<name sortKey="Canitano, Roberto" sort="Canitano, Roberto" uniqKey="Canitano R" first="Roberto" last="Canitano">Roberto Canitano</name>
<name sortKey="Chaplin, William" sort="Chaplin, William" uniqKey="Chaplin W" first="William" last="Chaplin">William Chaplin</name>
<name sortKey="Dobry, Yuriy" sort="Dobry, Yuriy" uniqKey="Dobry Y" first="Yuriy" last="Dobry">Yuriy Dobry</name>
<name sortKey="Frank, Yitzchak" sort="Frank, Yitzchak" uniqKey="Frank Y" first="Yitzchak" last="Frank">Yitzchak Frank</name>
<name sortKey="Frank, Yitzchak" sort="Frank, Yitzchak" uniqKey="Frank Y" first="Yitzchak" last="Frank">Yitzchak Frank</name>
<name sortKey="Frank, Yitzchak" sort="Frank, Yitzchak" uniqKey="Frank Y" first="Yitzchak" last="Frank">Yitzchak Frank</name>
<name sortKey="Frank, Yitzchak" sort="Frank, Yitzchak" uniqKey="Frank Y" first="Yitzchak" last="Frank">Yitzchak Frank</name>
<name sortKey="Grodberg, David" sort="Grodberg, David" uniqKey="Grodberg D" first="David" last="Grodberg">David Grodberg</name>
<name sortKey="Grodberg, David" sort="Grodberg, David" uniqKey="Grodberg D" first="David" last="Grodberg">David Grodberg</name>
<name sortKey="Halpern, Danielle" sort="Halpern, Danielle" uniqKey="Halpern D" first="Danielle" last="Halpern">Danielle Halpern</name>
<name sortKey="Halpern, Danielle" sort="Halpern, Danielle" uniqKey="Halpern D" first="Danielle" last="Halpern">Danielle Halpern</name>
<name sortKey="Kolevzon, Alexander" sort="Kolevzon, Alexander" uniqKey="Kolevzon A" first="Alexander" last="Kolevzon">Alexander Kolevzon</name>
<name sortKey="Kolevzon, Alexander" sort="Kolevzon, Alexander" uniqKey="Kolevzon A" first="Alexander" last="Kolevzon">Alexander Kolevzon</name>
<name sortKey="Kolevzon, Alexander" sort="Kolevzon, Alexander" uniqKey="Kolevzon A" first="Alexander" last="Kolevzon">Alexander Kolevzon</name>
<name sortKey="Lim, Teresa" sort="Lim, Teresa" uniqKey="Lim T" first="Teresa" last="Lim">Teresa Lim</name>
<name sortKey="Parkhomenko, Elena" sort="Parkhomenko, Elena" uniqKey="Parkhomenko E" first="Elena" last="Parkhomenko">Elena Parkhomenko</name>
<name sortKey="Parkhomenko, Elena" sort="Parkhomenko, Elena" uniqKey="Parkhomenko E" first="Elena" last="Parkhomenko">Elena Parkhomenko</name>
<name sortKey="Schwartz, Lily" sort="Schwartz, Lily" uniqKey="Schwartz L" first="Lily" last="Schwartz">Lily Schwartz</name>
<name sortKey="Soorya, Latha" sort="Soorya, Latha" uniqKey="Soorya L" first="Latha" last="Soorya">Latha Soorya</name>
<name sortKey="Soorya, Latha" sort="Soorya, Latha" uniqKey="Soorya L" first="Latha" last="Soorya">Latha Soorya</name>
<name sortKey="Wang, A Ting" sort="Wang, A Ting" uniqKey="Wang A" first="A Ting" last="Wang">A Ting Wang</name>
<name sortKey="Wang, A Ting" sort="Wang, A Ting" uniqKey="Wang A" first="A Ting" last="Wang">A Ting Wang</name>
<name sortKey="Wang, A Ting" sort="Wang, A Ting" uniqKey="Wang A" first="A Ting" last="Wang">A Ting Wang</name>
<name sortKey="Willner, Judith P" sort="Willner, Judith P" uniqKey="Willner J" first="Judith P" last="Willner">Judith P. Willner</name>
<name sortKey="Willner, Judith P" sort="Willner, Judith P" uniqKey="Willner J" first="Judith P" last="Willner">Judith P. Willner</name>
<name sortKey="Yang, Amy" sort="Yang, Amy" uniqKey="Yang A" first="Amy" last="Yang">Amy Yang</name>
<name sortKey="Yang, Amy" sort="Yang, Amy" uniqKey="Yang A" first="Amy" last="Yang">Amy Yang</name>
<name sortKey="Zweifach, Jessica" sort="Zweifach, Jessica" uniqKey="Zweifach J" first="Jessica" last="Zweifach">Jessica Zweifach</name>
</country>
<country name="Italie"><noRegion><name sortKey="Canitano, Roberto" sort="Canitano, Roberto" uniqKey="Canitano R" first="Roberto" last="Canitano">Roberto Canitano</name>
</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
</region>
<name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
<name sortKey="Betancur, Catalina" sort="Betancur, Catalina" uniqKey="Betancur C" first="Catalina" last="Betancur">Catalina Betancur</name>
</country>
</tree>
</affiliations>
</record>
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