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        Expanding the clinical picture of the MECP2 Duplication syndrome

        Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

        Research

        Parental perspectives on the communication abilities of their daughters with Rett syndrome

        How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

        Research

        Influence of the environment on participation in social roles for young adults with down syndrome

        The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and... ...

        Research

        There is variability in the attainment of developmental milestones in the CDKL5 disorder

        Individuals with the CDKL5 disorder have been described as having severely impaired development. ...

        Research

        Level of purposeful hand function as a marker of clinical severity in Rett syndrome

        Helen Peter Leonard Jacoby HM PJ MBChB MPH BA (Hons) MSc Principal Research Fellow Biostatistician +61 419 956 946 helen.leonard@telethonkids.org.au Peter.Jacoby@telethonkids.org.au Principal Research Fellow Biostatistician Authors: Downs J, ...

        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

        Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

        This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic... ...

        Research

        qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

        This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

        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. ...

        Research

        Genotype and sleep independently predict mental health in Rett syndrome: An observational study

        Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. ...

        Research

        Vitamin D deficiency at 16 to 20 weeks' gestation is associated with impaired lung function and asthma at 6 years of age

        This paper examines whether a Vitamin D deficiency during pregnancy affects the child's lung function predisposition towards lung disease such as asthma. ...

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