Literature DB >> 20336273

[Genetic causes in mild speech acquisition delay with/without mild developmental delay: significance for ENT physicians].

C Schwemmle1, U Schwemmle, M Ptok.   

Abstract

Mental retardation (MR) has a prevalence of about 2%, and developmental speech disorders with unknown cause about 7%. Very often, developmental delay represents an early warning sign of later developmental problems, such as mental retardation and other developmental disorders (DD). Prognosis depends on many factors, most notably the limiting factor provided by the severity of the underlying brain dysfunction and its consequences for communication, cognition and other behaviour. Chromosomal aberrations are the major cause of MR and also play a role in mild forms of DD and speech acquisition delay. ENT specialists are confronted with children with DD or language acquisition disorders. If the suspicion of hearing impairment as the cause of problems in daily life is not confirmed in a patient, ENT specialists should also consider genetic causes in the differential diagnosis.

Entities:  

Mesh:

Year:  2010        PMID: 20336273     DOI: 10.1007/s00106-009-2027-8

Source DB:  PubMed          Journal:  HNO        ISSN: 0017-6192            Impact factor:   1.284


  19 in total

1.  Localisation of a gene implicated in a severe speech and language disorder.

Authors:  S E Fisher; F Vargha-Khadem; K E Watkins; A P Monaco; M E Pembrey
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

Review 2.  DiGeorge syndrome: an historical review of clinical and cytogenetic features.

Authors:  F Greenberg
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 3.  Adulthood in women with Turner syndrome.

Authors:  Julia E Ostberg; Gerard S Conway
Journal:  Horm Res       Date:  2003

4.  A forkhead-domain gene is mutated in a severe speech and language disorder.

Authors:  C S Lai; S E Fisher; J A Hurst; F Vargha-Khadem; A P Monaco
Journal:  Nature       Date:  2001-10-04       Impact factor: 49.962

Review 5.  Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

Authors:  A H Lipson; D Yuille; M Angel; P G Thompson; J G Vandervoord; E J Beckenham
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

6.  [Small deletion--large effect].

Authors:  K Lüerssen; M Pruggmayer; M Ptok
Journal:  HNO       Date:  2004-03       Impact factor: 1.284

7.  A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Authors:  R J Shprintzen; R B Goldberg; M L Lewin; E J Sidoti; M D Berkman; R V Argamaso; D Young
Journal:  Cleft Palate J       Date:  1978-01

Review 8.  Fragile X syndrome.

Authors:  Kathryn B Garber; Jeannie Visootsak; Stephen T Warren
Journal:  Eur J Hum Genet       Date:  2008-04-09       Impact factor: 4.246

9.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

Review 10.  [Attention deficit and hyperactivity disorder: what is currently known and its significance for ENT specialists].

Authors:  C Schwemmle; U Schwemmle; M Ptok
Journal:  HNO       Date:  2007-07       Impact factor: 1.330

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.