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Showing results for "Neuromuscular disorders "
Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.
The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved.
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Neurodevelopmental disorders are a heterogeneous group of conditions with overlapping symptomatology and fluctuating developmental trajectories that transcend current diagnostic categorisation. There is a need for validated screening instruments which dimensionally assess symptomatology from a holistic, transdiagnostic perspective.
As a parent of two teenage daughters, I like to think I know what's going on in their lives and how they are feeling.
Increased prenatal testosterone exposure has been hypothesized as a mechanism underlying autism spectrum disorders (ASD).
Alcohol exposure in pregnancy is a common and modifiable risk factor for poor pregnancy and child outcomes.