Results 171 to 180 of about 3,757,153 (283)
Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan +15 more
wiley +1 more source
Communication in girls with Rett Syndrome [PDF]
TITLE: Communication in Girls with Rett Syndrome AUTHOR: Zdeňka Sobotová DEPARTMENT: Department of Special Education SUPERVISOR: doc. PaedDr. Jiřina Klenková, Ph.D. ABSTRACT: This thesis investigates the communication in girls with Rett syndrome.
Sobotová, Zdeňka
core
Clinical and genetic characterization of intellectual disability
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Molecular Diagnosis of Rett Syndrome
In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher.
Gärtner, Jutta, Huppke, Peter
core +1 more source
ABSTRACT Background People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes.
Jenny Downs +6 more
wiley +1 more source
Ketogenic diet in Rett syndrome.
Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years.
Liebhaber, GM;Riemann, E;Baumeister, FA
core
Routine chemistry biomarkers in patients with MECP2 duplication syndrome, Rett syndrome, and control subjects.
Claudio De Felice (383430) +12 more
core +1 more source
Towards a behavioral phenotype for Rett syndrome
Despite considerable interest in Rett syndrome, there have been few studies of associated behavioral and emotional problems. In the present study, 143 girls with Rett syndrome were compared on the Developmental Behavior Checklist with 85 girls with ...
Charman, Tony; id_orcid +4 more
core +1 more source
Ovarian Teratoma in a Nonverbal Adult With Rett Syndrome. [PDF]
Garcia AMV, Hudman DL, McGowan P, Ree B.
europepmc +1 more source

