Monozygotic twins with Rett syndrome: Phenotyping the first two years of life

Journal of Developmental and Physical Disabilities
Christa EinspielerJeff Sigafoos

Abstract

The first two years of life for children with Rett syndrome (RTT) have previously been viewed as relatively asymptomatic. However, it is possible that subtle symptoms may be present in early development. To identify possible early indicators of RTT, we analysed videotapes of two twin girls with RTT. The videotapes were analysed to (a) describe the motor and communicative development of this twin pair with RTT; and to (b) explore whether early abnormalities and their age of onset differed between the twins and were related to their later clinical phenotypes. The results indicated several neurodevelopmental abnormalities present before the children exhibited any obvious signs of regression. Abnormalities were evident in the motor, speech-language and communicative domains. These data support an emerging evidence base showing the presence of developmental abnormalities in children with RTT during the first year of life. The results have implications for early screening and clinical assessment.

References

Jan 1, 1990·Brain & Development·Y Nomura, M Segawa
Jun 15, 1991·American Journal of Medical Genetics·I BruckS Antoniuk
Mar 1, 1990·Journal of Autism and Developmental Disorders·C A HaenggeliC D DeLozier-Blanchet
Jan 1, 1990·Brain & Development·G Tariverdian
Jan 1, 1986·American Journal of Medical Genetics. Supplement·W Killian
Jan 1, 1986·American Journal of Medical Genetics. Supplement·D E Comings
Mar 1, 1988·American Journal of Medical Genetics·M W Partington
Jan 1, 1987·Brain & Development·M ColemanW Bias
Jan 1, 1987·Brain & Development·A M KerrJ B Stephenson
Jan 1, 1985·Brain & Development·F Hanefeld
Apr 1, 1995·Neuropediatrics·A M Kerr
Sep 1, 1996·Brain & Development·S Tams-Little, G Holdgrafer
Dec 1, 1996·Clinical Genetics·G PiniM Zappella
Oct 27, 1997·American Journal of Human Genetics·N C SchanenU Francke
Dec 31, 1997·Brain & Development·A MiyamotoJ Oki
Jan 24, 1998·Brain & Development·A OgawaT Matsumoto
Apr 17, 1998·Human Genetics·A C KrepischiP G Otto
Dec 1, 1999·American Journal of Human Genetics·M WanU Francke
Dec 12, 2001·Brain & Development·M Segawa
Dec 24, 2002·Archives of Disease in Childhood·L ColvinH Leonard
Jul 10, 2003·Brain & Development·Peter HuppkeFolker Hanefeld
Dec 4, 2003·Journal of Intellectual Disability Research : JIDR·B BurfordH A Macleod
Feb 19, 2005·Pediatric Research·Christa EinspielerHeinz F R Prechtl
Apr 28, 2005·Mental Retardation and Developmental Disabilities Research Reviews·Christa Einspieler, Heinz F R Prechtl
Sep 27, 2005·Brain & Development·Christa EinspielerHeinz F R Prechtl
Sep 13, 2006·Clinical Genetics·J C EvansA Clarke
Jan 20, 2007·Neuropediatrics·M LundvallM Kyllerman
Oct 5, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Teresa TemudoJorge Sequeiros
Oct 31, 2007·American Journal of Medical Genetics. Part a·Elisa ScalaFrancesca Ariani
Nov 10, 2007·Neonatology·Akmer MutluAyse Livanelioglu
Dec 11, 2007·AJNR. American Journal of Neuroradiology·J C CarterW E Kaufmann
Feb 19, 2009·Journal of Autism and Developmental Disorders·Peter B MarschikHeinz F R Prechtl
May 22, 2010·Early Human Development·N K S de Vries, A F Bos
Dec 15, 2010·Annals of Neurology·Jeffrey L NeulUNKNOWN RettSearch Consortium
Aug 4, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Kirti MittalB K Thelma
Aug 30, 2011·BMC Medical Genetics·Kirti MittalThelma BK
Nov 29, 2011·Research in Developmental Disabilities·Peter B MarschikJeff Sigafoos
Dec 6, 2011·Developmental Neurorehabilitation·Peter B Marschik, Christa Einspieler

❮ Previous
Next ❯

Citations

May 24, 2017·Developmental Neurorehabilitation·Peter B MarschikMarlene B Lauritsen
Jan 28, 2020·Current Developmental Disorders Reports·Sigrun LangPeter B Marschik
Aug 16, 2016·Wiener medizinische Wochenschrift·Christa EinspielerPeter B Marschik

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.