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Research

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

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Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review

Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

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Discovery of 42 genome-wide significant loci associated with dyslexia

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found.

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Associations between clusters of early life risk factors and developmental vulnerability at age 5

This study investigated the associations between clusters of early life risk factors and developmental vulnerability in children's first year of full-time school at age 5

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CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children

Delayed or impaired language development is a common developmental concern, yet there is little agreement about the criteria used to identify and classify...

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Maternal serum vitamin D levels during pregnancy and offspring neurocognitive development

The objective was to determine the association between maternal serum 25(OH)-vitamin D concentrations and behavioural, emotional and language outcomes...

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Language, cognitive flexibility, and explicit false belief understanding: Longitudinal analysis in typical development and specific language impairment

The current study sought to further investigate in 91 English-speaking typically developing children and 30 children with specific language impairment...

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Fetal head circumference growth in children with specific language impairment

The aim was to characterise fetal brain growth in children with specific language impairment (SLI). A nested case-control study was set in Perth, WA.

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The association between perinatal testosterone concentration and early vocabulary development

Prenatal exposure to testosterone is known to affect fetal brain maturation and later neurocognitive function.

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Is there a sex ratio difference in the familial aggregation of specific language impairment? A meta analysis

This meta-analysis examined whether there is a sex ratio difference in the risk for impairment among family members of an SLI proband