[HTML][HTML] Regression in Rett syndrome: Developmental pathways to its onset

C Einspieler, PB Marschik - Neuroscience & Biobehavioral Reviews, 2019 - Elsevier
Rett syndrome (RTT) is an X-linked genetic disorder that occurs predominantly in females.
The clinical picture associated with RTT is defined by core and supportive consensus …

Sleep disorders in Rett syndrome and Rett-related disorders: a narrative review

G Tascini, GB Dell'Isola, E Mencaroni… - Frontiers in …, 2022 - frontiersin.org
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …

Early postnatal behavioral changes in the Mecp2‐308 truncation mouse model of Rett syndrome

B De Filippis, L Ricceri, G Laviola - Genes, Brain and Behavior, 2010 - Wiley Online Library
In a mouse model of Rett syndrome (RTT) which expresses a truncated form of methyl‐CpG‐
binding protein 2 (Mecp2) gene (Mecp2‐308), we performed a neurobehavioral evaluation …

The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

P Dyke, J Bourke, G Llewellyn… - Journal of Intellectual and …, 2013 - Taylor & Francis
Background The transition from school to adulthood for young adults with an intellectual
disability involves movement from a generally secure and supported school environment to …

Predictors of seizure onset in Rett syndrome

L Jian, L Nagarajan, N De Klerk, D Ravine… - The Journal of …, 2006 - Elsevier
OBJECTIVES: To investigate risk factors for seizure onset in Rett syndrome. STUDY
DESIGN: Information on presence and age at onset of seizures, perinatal and …

Rett syndrome before regression: A time window of overlooked opportunities for diagnosis and intervention

L Cosentino, D Vigli, F Franchi, G Laviola… - Neuroscience & …, 2019 - Elsevier
Rett syndrome (RTT) is a rare neurological disorder primarily affecting females, causing
severe cognitive, social, motor and physiological impairments for which no cure currently …

Seizures in Rett syndrome: an overview from a one-year calendar study

L Jian, L Nagarajan, N De Klerk, D Ravine… - European Journal of …, 2007 - Elsevier
BACKGROUND: Rett syndrome is a neurodevelopmental disorder mainly affecting females.
It is principally caused by mutations in the MECP2 gene. Seizures occur in about 80% of …

Expanding the clinical picture of the MECP2 Duplication syndrome

Z Lim, J Downs, K Wong, C Ellaway… - Clinical genetics, 2017 - Wiley Online Library
Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical
features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have …

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database

L Robertson, SE Hall, P Jacoby… - American Journal of …, 2006 - Wiley Online Library
This study compared the behavior profile of cases in the Australian Rett Syndrome Database
(ARSD) with those in a British study using the Rett Syndrome Behavior Questionnaire …

Early determinants of fractures in Rett syndrome

J Downs, A Bebbington, H Woodhead, P Jacoby… - …, 2008 - publications.aap.org
OBJECTIVES. The goals were to compare the fracture incidence in Rett syndrome with that
in the general population and to investigate the impact of genotype, epilepsy, and early …