People with MECP2 mutation-positive Rett disorder who converse

Journal of Intellectual Disability Research : JIDR
A KerrF Gibbon

Abstract

People with useful speech after regression constitute a distinct group of those with mutation-positive Rett disorder, 6% (20/331) reported among mutation-positive people in the British Survey. We aimed to determine the physical, mental and genetic characteristics of this group and to gain insight into their experience of Rett syndrome. Clinical and molecular data for people with Rett, aged 10 or more years at follow-up (the study group, n = 13), with the ability to converse and a MECP2 mutation are presented. They were compared with an age-matched control group (n = 110), who could not converse and had a pathogenic MECP2 mutation. The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C-terminal deletions P = 0.014, R133C P < 0.006). The results indicate that favourable skewing of X-inactivation is only present in a small proportion of mild cases. Speech was fragmented with a soft, breathless quality, and all but two had obviously irregular...Continue Reading

References

Mar 1, 1992·Brain & Development·M Zappella
Jan 1, 1987·Brain & Development·A M KerrJ B Stephenson
Jul 1, 1994·Pediatric Neurology·B A Hagberg, O H Skjeldal
Jan 1, 1997·Acta Neuropathologica·P V BelichenkoA Dahlström
May 1, 1997·Developmental Medicine and Child Neurology·R E MortonR E Ellis
May 30, 2001·Brain & Development·A M KerrM Segawa
Dec 12, 2001·Brain & Development·A M KerrM Woodcock
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Dawna Duncan Armstrong
Sep 11, 2003·American Journal of Medical Genetics. Part a·E SmeetsJ P Fryns
Dec 4, 2003·Journal of Intellectual Disability Research : JIDR·B BurfordH A Macleod
Dec 3, 2003·Journal of Child Neurology·Raili Riikonen
Dec 3, 2003·Journal of Child Neurology·Alison M KerrYvonne Milne
Jan 20, 2004·Journal of Medical Genetics·L ColvinJ Christodoulou
Dec 4, 2004·American Journal of Medical Genetics. Part a·E SmeetsJ P Fryns
Dec 21, 2004·Nature Genetics·Shin-ichi HorikeTerumi Kohwi-Shigematsu
Jan 26, 2005·Brain & Development·Charles A Williams
Feb 19, 2005·Pediatric Research·Christa EinspielerHeinz F R Prechtl
Sep 27, 2005·Brain & Development·Alison M Kerr, Robin J Prescott

❮ Previous
Next ❯

Citations

Nov 15, 2006·Molecular and Cellular Biology·Tatiana NikitinaChristopher L Woodcock
Oct 24, 2009·Neuropsychiatric Disease and Treatment·Tohshin Go, Asako Mitani
Aug 9, 2007·European Journal of Pediatrics·Deidra J YoungHelen Leonard
Feb 26, 2014·Developmental Neurorehabilitation·Anna UrbanowiczJenny Downs
Aug 24, 2010·Epilepsy & Behavior : E&B·Maria PintaudiEdvige Veneselli
May 29, 2007·Brain & Development·Deidra YoungHelen Leonard
Nov 28, 2014·American Journal of Medical Genetics. Part a·Anna UrbanowiczHelen Leonard
Jul 15, 2015·Research in Developmental Disabilities·Gillian S TownendPeter B Marschik
Jun 16, 2012·Research in Developmental Disabilities·Peter B MarschikChrista Einspieler
Feb 13, 2013·Research in Developmental Disabilities·Peter B MarschikMichael V Johnston
Jun 16, 2012·Research in Developmental Disabilities·Peter B MarschikJeff Sigafoos
Jul 31, 2013·Research in Developmental Disabilities·Katrin D Bartl-PokornyChrista Einspieler
Nov 29, 2011·Research in Developmental Disabilities·Peter B MarschikJeff Sigafoos
Nov 9, 2007·Neuron·Maria Chahrour, Huda Y Zoghbi
Jun 4, 2011·Journal of Child Neurology·Kitty-Rose FoleyHelen Leonard
Nov 26, 2009·Autism : the International Journal of Research and Practice·Josette WulffaertEvert M Scholte
Apr 11, 2015·Language, Speech, and Hearing Services in Schools·Shannon Hall-Mills, Kenn Apel
Feb 22, 2012·Developmental Medicine and Child Neurology·Peter B MarschikChrista Einspieler
Mar 17, 2018·Journal of Physical Therapy Science·Daisuke Hirano, Takamichi Taniguchi
Jun 15, 2007·Child and Adolescent Psychiatric Clinics of North America·Bruria Ben Zeev Ghidoni

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.