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        Research

        Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

        Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

        Research

        Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

        There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

        Research

        Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

        This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

        Research

        Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

        This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

        Research

        The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

        The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

        Research

        Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

        People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

        Research

        Twenty years of surveillance in Rett syndrome: what does this tell us?

        This study aimed to describe overall survival and adult health in those with Rett syndrome. ...

        Research

        Transition to adulthood for young people with intellectual disability: the experiences of their families

        A number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood ...

        Research

        Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

        Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if... ...

        Research

        ‘There’s good and bad’: parent perspectives on the influence of mobile touch screen device use on prenatal attachment

        The potential for human-computer interaction to have a substantial impact on adults is well documented. However, its potential importance prior to birth has rarely been reported. Parental use of smartphones and tablet computers could influence the relationship between parent and baby during pregnancy (prenatal attachment) and thus child development. ...

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