Article

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders

2020-10-27

Abstract excerpt

<h4>Purpose</h4> The clinical and psychosocial outcomes associated with receiving a genetic diagnosis for developmental disorders are wide-ranging but under-studied. We sought to investigate outcomes from a subset of families who received a diagnosis through the Deciphering Developmental Disorders (DDD) study. <h4>Method</h4> Individuals recruited through the Peninsula Clinical Genetics Service who received a conf...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f99d4cac-108a-5ef8-bf5c-b7e9a55a1e40
DOI: 10.1101/2020.10.23.20213157

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disordersDOI 10.1101/2020.10.23.20213157Read

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disordersSemantic proximity Read

Optimising diagnostic yield in highly penetrant genomic diseaseSemantic proximity Read

Information and genetic counselling for psychiatric risks in children with rare disordersSemantic proximity Read

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure.Semantic proximity Read

“They don’t know how to live with a child with these conditions, they can’t understand…”: The lived experiences of parenting a child with a genetic neurodevelopmental disorderSemantic proximity Read

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of careSemantic proximity Read

Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic ConditionSemantic proximity Read

“How can we help our children if no one's helping us?”: Mental health support priorities for the parents of children with rare genetic conditions and the clinicians responsible for their care – a framework analysisSemantic proximity Read

An algorithm to identify patients with rare genetic disorders and its real-world data applicationSemantic proximity Read

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC): a study protocolSemantic proximity Read

The Diagnostic Journey of Genetically Defined Neurodevelopmental DisordersSemantic proximity Read

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.Semantic proximity Read