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        41-50 of 123 results for 'development delay'

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        Research

        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        Research

        Hearing loss in Australian First Nations children at 6-monthly assessments from age 12 to 36 months: Secondary outcomes from randomised controlled trials of novel pneumococcal conjugate vaccine schedules

        In Australian remote communities, First Nations children with otitis media (OM)-related hearing loss are disproportionately at risk of developmental delay and poor school performance, compared to those with normal hearing. Our objective was to compare OM-related hearing loss in children randomised to one of 2 pneumococcal conjugate vaccine (PCV) formulations. ...

        Research

        Evidence against poor semantic encoding in individuals with autism

        This article tests the hypothesis that individuals with autism poorly encode verbal information to the semantic level of processing, instead paying greater... ...

        Research

        The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

        Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months ...

        News & Events

        Midwives join fight against FASD

        Strong support and high demand has led to the early release of an Institute-developed learning package designed to empower midwives to tackle FASD. ...

        Research

        Language Development

        Language is one of the most remarkable developmental accomplishments of early childhood. Language connects us with others and is an essential tool for literacy, education, employment and lifelong learning. ...

        News & Events

        NDIA backs Telethon Kids Institute's program to support babies developing differently

        A world-first program for babies with delays in their social and communication skills has been launched in Western Australia, thanks to support from the National Disability Insurance Agency (NDIA). ...

        News & Events

        Centre of Research Excellence enables national FASD approach

        Researchers at the Telethon Kids Institute will establish a national framework to tackle Fetal Alcohol Spectrum Disorder (FASD). ...

        Research

        Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

        Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants. ...

        News & Events

        Toddler Talk

        A child's ability to communicate is one of their most important developmental achievements. It builds a foundation for everything that is to come. ...

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