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Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.
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Genetic analysis reveals range of Rett syndromeThe first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
Research
Motor abnormalities in Rett SyndromeFor most individuals, there is initial developmental progress followed by regression at around 6–30 months. The classic signs of RTT then become apparent.
Research
Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome
Research
How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
Research
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Research
Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
Research
Respiratory morbidity in Rett syndrome: An observational studyRett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization