Literature DB >> 8132119

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome.

B M Finucane1, D Konar, B Haas-Givler, M B Kurtz, C I Scott.   

Abstract

The authors have observed a hand- and arm-squeezing behavior that seems to be highly characteristic of Smith-Magenis syndrome (SMS). This behavior serves as a useful diagnostic marker for SMS, a disorder in which the physical phenotype is often subtle. The squeezing behavior appears to be part of a complex upper-body tic which is exacerbated by happiness, excitement or overstimulation. The tic most often manifests as a 'self-hug', and is frequently associated with facial grimacing. Fleeting arm- and hand-squeezing movements may be repeated hundreds of times over the course of a day, but they do not significantly interfere with other hand functions. The excitable self-hugging in people with SMS may be one of the more benign and appealing aspects of their behavioral phenotype.

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Year:  1994        PMID: 8132119     DOI: 10.1111/j.1469-8749.1994.tb11770.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  19 in total

1.  Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Authors:  R C Juyal; L E Figuera; X Hauge; S H Elsea; J R Lupski; F Greenberg; A Baldini; P I Patel
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

Authors:  E M Dykens; B M Finucane; C Gayley
Journal:  J Autism Dev Disord       Date:  1997-04

3.  Social escape behaviors in children with fragile X syndrome.

Authors:  Scott Hall; Marie DeBernardis; Allan Reiss
Journal:  J Autism Dev Disord       Date:  2006-10

Review 4.  Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Authors:  Juanita Neira-Fresneda; Lorraine Potocki
Journal:  J Pediatr Genet       Date:  2015-09-28

5.  The face of Smith-Magenis syndrome: a subjective and objective study.

Authors:  J E Allanson; F Greenberg; A C Smith
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

6.  Autism spectrum features in Smith-Magenis syndrome.

Authors:  Gonzalo Laje; Rebecca Morse; William Richter; Jonathan Ball; Maryland Pao; Ann C M Smith
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-11-15       Impact factor: 3.908

7.  Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

Authors:  Gonzalo Laje; Rebecca Bernert; Rebecca Morse; Maryland Pao; Ann C M Smith
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-11-15       Impact factor: 3.908

8.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

Authors:  Paulina Carmona-Mora; Carolina A Encina; Cesar P Canales; Lei Cao; Jessica Molina; Pamela Kairath; Juan I Young; Katherina Walz
Journal:  BMC Mol Biol       Date:  2010-08-25       Impact factor: 2.946

10.  Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes.

Authors:  P Carmona-Mora; J Molina; C A Encina; K Walz
Journal:  Curr Genomics       Date:  2009-06       Impact factor: 2.236

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