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        Research

        Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data

        The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five... ...

        Research

        Updating the profile of C-terminal MECP2 deletions in Rett syndrome

        This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

        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,... ...

        Research

        Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

        This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

        Research

        The diagnosis of autism in a female: could it be Rett syndrome?

        The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether... ...

        Research

        Development of a video-based evaluation tool in Rett syndrome

        This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). ...

        Research

        Seizures in Rett syndrome: an overview from a one-year calendar study

        Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a... ...

        Research

        Early progressive encephalopathy in boys and MECP2 mutations

        MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy... ...

        Research

        NTNG1 mutations are a rare cause of Rett syndrome

        A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). ...

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