Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome

The Journal of Craniofacial Surgery
Sarah KilcoyneAndrew O M Wilkie

Abstract

Saethre-Chotzen syndrome (SCS) is an autosomal dominant condition defined by mutations affecting the TWIST1 gene on chromosome 7p21.1. Previous research has identified an elevated prevalence of intracranial hypertension and hearing impairment associated with this syndrome. This study aimed to investigate the influence of hearing history and presence of intracranial hypertension on language development in children with SCS.A retrospective study note analysis was performed for all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit and underwent a language assessment over a 22-year period. Intracranial pressure monitoring, hearing status, and language outcomes were examined in detail.Thirty patients with genetically confirmed SCS and language assessment data were identified. Twenty-eight patients underwent surgical intervention; 10 presented with intracranial hypertension (5 prior to, and 5 after primary surgical intervention). Language data coinciding with the presentation of intracranial hypertension were available for 8 children. About 44% of children with intracranial hypertension presented with concurrent receptive and expressive language delay (n = 4/8). For both children (n = 2) with...Continue Reading

References

Feb 1, 1991·Journal of Medical Genetics·R MariniM Baraitser
Jan 1, 1990·Child: Care, Health and Development·H McConachie
Oct 1, 1970·Archives of Otolaryngology·J Jerger
Jun 1, 1969·The Journal of Laryngology and Otology·G Lidén
Oct 1, 1996·The Journal of Laryngology and Otology·R J EnsinkC W Cremers
Jan 1, 1997·Nature Genetics·V el GhouzziJ Bonaventure
Jun 19, 1998·American Journal of Human Genetics·W A PaznekasE W Jabs
Sep 12, 1998·Plastic and Reconstructive Surgery·L BotteroD Renier
Oct 3, 1999·International Journal of Language & Communication Disorders·D SellP Grunwell
Jul 27, 2000·International Journal of Language & Communication Disorders·J LawC Nye
Apr 28, 2001·Annals of Plastic Surgery·F GewalliC G Lauritzen
Jul 13, 2002·American Journal of Medical Genetics·Kathy ChunIkuko Teshima
Apr 23, 2003·Child Development·Thomas F CampbellMarcia Kurs-Lasky
Jun 1, 2005·Plastic and Reconstructive Surgery·Inge Marieke de HeerJeannette M Hoogeboom
Oct 28, 2005·European Journal of Human Genetics : EJHG·Wolfram KressHartmut Collmann
Jul 29, 2006·Journal of Neurosurgery·Irene MathijssenDominique Renier
Nov 16, 2007·American Journal of Medical Genetics. Part a·Emily S DohertyMaximilian Muenke
Nov 28, 2007·Developmental Medicine and Child Neurology·C Wiegand, P Richards
Sep 27, 2008·Human Molecular Genetics·Suzanne L MansourAndrew O M Wilkie
Aug 1, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Joan M StolerJohn B Mulliken
May 3, 2011·Plastic and Reconstructive Surgery·Heather RosenGary F Rogers
Apr 17, 2014·European Journal of Human Genetics : EJHG·Federico di RoccoCorinne Collet
Sep 16, 2017·Current Opinion in Pediatrics·Andrew O M WilkieSteven A Wall
Jan 6, 2018·Journal of Neurosurgery. Pediatrics·Ruichong MaSteven Wall

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