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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.

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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis

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The relationship between maternal psychiatric disorder, autism spectrum disorder and intellectual disability in the child: a composite picture

Research conducted by this laboratory has previously published four papers examining the relationship between maternal psychiatric disorders and having a...

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The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, and intellectual disability (ID), commonly emerge during early development and impact functioning across cognitive, social-emotional, communication, and sensorimotor domains.

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How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework

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Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome

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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.

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Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...