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        Peter Jacoby

        Biostatistician ...

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        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 ...

        Research

        Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability

        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.  ...

        Research

        Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

        Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers. ...

        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

        Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

        Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. ...

        Research

        Linking MECP2 and pain sensitivity: the example of Rett syndrome

        This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. ...

        Research

        Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

        This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome ...

        Research

        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        Research

        Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

        Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

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