Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with rett syndrome:a case report [PDF]
, 2009 Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects females. The spinal curve in patients with Rett syndrome is typically a long C curve of a neuromuscular type. As the onset of the
Misawa, Haruo +6 more
core +2 more sources
Multisystem comorbidities in classic Rett syndrome: a scoping review
BMJ Paediatrics Open, 2020 Background Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers.
Cary Fu +15 more
semanticscholar +1 more source
CNV and nervous system diseases - what's new? [PDF]
, 2008 Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core +3 more sources
MeCP2 Functions Largely Cell-Autonomously, but Also Non-Cell-Autonomously, in Neuronal Maturation and Dendritic Arborization of Cortical Pyramidal Neurons [PDF]
, 2013 Rett syndrome is a human neurodevelopmental disorder presenting almost exclusively in female infants; it is the second most common cause of mental retardation in girls, after Down’s syndrome.
Kishi, Noriyuki, Macklis, Jeffrey Daniel
core +1 more source
Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. [PDF]
, 2019 Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. Complete loss of MECP2 function in males causes congenital encephalopathy, neurodevelopmental arrest, and early lethality.
Carromeu, Cassiano +9 more
core +2 more sources
Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review
Brain Science, 2020 Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals ...
M. Fonzo, F. Sirico, B. Corrado
semanticscholar +1 more source
Compromised immune/inflammatory responses in Rett syndrome.
Free Radical Biology & Medicine, 2020 Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure.
A. Pecorelli +4 more
semanticscholar +1 more source
Modeling Autistic Features in Animals [PDF]
, 2011 A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core +1 more source
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome
Orphanet Journal of Rare Diseases, 2022 Background Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births.
Rosa Angela Fabio +2 more
doaj +1 more source
Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies
Children, 2023 The present study aimed to evaluate the burden and management of fragility fractures in subjects with Rett syndrome. We searched all relevant medical literature from 1 January 1986 to 30 June 2023 for studies under the search term “Rett syndrome and ...
Carla Caffarelli +6 more
doaj +1 more source