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        Research

        Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

        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. ...

        Research

        Community participation for girls and women living with Rett syndrome

        Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

        Research

        Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

        This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

        People

        Desiree Silva

        Co-Head, The ORIGINS Project ...

        Research

        Risk of otitis media in offspring following maternal prenatal stress exposure

        There is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age.  ...

        News & Events

        Children with disabilities 3 times more likely to be maltreated but risk varies by disability type

        A new study has found children with disabilities are 3 times more likely to be maltreated compared to other children but that risk varies by type of disability. ...

        Research

        The association of mobile touch screen device use with parent-child attachment: a systematic review

        Mobile touch screen devices (smartphones and tablet computers) have become an integral part of many parents’ and children’s lives, with this interaction linked to physical, mental and social outcomes. Despite the known importance of parent-child attachment, evidence on the association between device use and attachment was yet to be reviewed. ...

        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

        Research

        Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

        We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

        Research

        Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

        Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. ...

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