Literature DB >> 15517828

Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome.

K Sarimski1.   

Abstract

Smith-Magenis syndrome is characterized by a range of minor physical and facial abnormalities and is caused by a de novo deletion on chromosome 17. Most children function in the moderate to severe ranges of mental retardation. Results of a survey on adaptive skills, communicative competence and behavioural abnormalities in 20 children are reported. The findings suggest a strong desire to get in social contact and maintain conversations in spite of their limited cognitive processing. As a group, children with SMS are presenting with severe behavioural abnormalities, e.g. self-injury, extreme irritability, ritualistic behaviour. Behaviour problems are more severe than in other genetic syndrome groups as a comparison with Prader-Willi- and Fragile-X-syndrome children reveals. However, functional analysis suggests that it is not independent from situational variables. There is a strong need for behavioural intervention planning as part of family services.

Entities:  

Mesh:

Year:  2004        PMID: 15517828

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  6 in total

1.  [Speech impairment and the Smith-Magenis syndrome].

Authors:  C Bergmann; S Morlot; M Ptok
Journal:  HNO       Date:  2007-08       Impact factor: 1.284

2.  Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

Authors:  Pamela L Wolters; Andrea L Gropman; Staci C Martin; Michaele R Smith; Hanna L Hildenbrand; Carmen C Brewer; Ann C M Smith
Journal:  Pediatr Neurol       Date:  2009-10       Impact factor: 3.372

3.  Genomic sister-disorders of neurodevelopment: an evolutionary approach.

Authors:  Bernard Crespi; Kyle Summers; Steve Dorus
Journal:  Evol Appl       Date:  2009-01-07       Impact factor: 5.183

Review 4.  RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Authors:  Mariateresa Falco; Sonia Amabile; Fabio Acquaviva
Journal:  Appl Clin Genet       Date:  2017-11-03

Review 5.  Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype.

Authors:  Aurore Morel; Elodie Peyroux; Arnaud Leleu; Emilie Favre; Nicolas Franck; Caroline Demily
Journal:  Front Pediatr       Date:  2018-05-03       Impact factor: 3.418

6.  De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Authors:  Francesco Vetrini; Shane McKee; Jill A Rosenfeld; Mohnish Suri; Andrea M Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T Alaimo; Brett Graham; Jill M Harris; James B Gibson; Matthew Pastore; Kim L McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A Fanning; Klaas J Wierenga; Daryl A Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J Lloyd Holder; Lindsay C Burrage; Laurie H Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; Donna M Muzny; Richard A Gibbs; Sarah H Elsea; Jennifer E Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M Eng; James R Lupski; Pengfei Liu
Journal:  Genome Med       Date:  2019-02-28       Impact factor: 11.117

  6 in total

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