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Showing results for "rett"

Research

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.

Research

Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coin

Prader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.

Research

Health care utilization and costs for children and adults with duchenne muscular dystrophy

The annual economic cost of DMD was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood

Research

Dental admissions in children under two years - A total-population investigation

This paper describes dental and oral cavity admissions and associated factors in children under two years of age using total-population databases.

Research

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

Research

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

Database a crucial tool helping to fill the CDKL5 information void

The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.

Research

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

Research

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...