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Neurodevelopmental disorders

Intellectual disabilities

At a glance

A Dissemination programme aimed at improving outcomes for Amish families affected by neurodevelopmental disorders

Lead researcher

Dr Emma Baple

Institution

University of Exeter

Status

Live

Amount awarded

£60,000

Last updated

05/02/18

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With MRC funding Dr Bale and her colleagues identified the genes responsible for six inherited neurodevelopmental disorders in the Amish community – all new to medical science. The Medical Research Foundation provided Dr Baple with support to disseminate the clinically relevant research findings to affected families, clinicians and education providers. As with many disorders, early diagnosis and intervention in these conditions results in improved outcomes for affected individuals in order to stop needless, expensive and sometimes painful investigations.

The growth and development of the human brain involves an intricate and precisely controlled cascade of molecular and cellular events. Even minor abnormalities in these processes may result in defects in brain function and result in neurodevelopmental delay, in which a child’s behaviour or ability to learn is impaired. A fundamentally important contribution to understanding of the processes involved in brain development has come from the study of specific inherited disorders of neurodevelopment, which while individually rare in the general population, occur more frequently in genetically isolated communities such as the Amish in the USA. The Amish are a group of conservative and traditional protestants who have their origins in 17th Century Europe. Religious constraints mean that they are ineligible for state-funded medical care, and rising medical costs mean that many families are often unable to afford vital clinical investigations and therapies.

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..due to a lack of knowledge and awareness of these newly described conditions amongst both the Amish community and their health care providers, affected children have often been subjected to needless, expensive and sometimes painful investigations.

As part of a long-running MRC-funded community research programme studying inherited disease amongst the Ohio Amish, Dr Baple and colleagues identified the genes responsible for six such inherited neurodevelopmental disorders, each of which was new to medical science. As with many disorders, early diagnosis and intervention in these conditions results in improved outcome for affected individuals. However, due to a lack of knowledge and awareness of these newly described conditions amongst both the Amish community and their health care providers, affected children have often been subjected to needless, expensive and sometimes painful investigations. We aimed to address this issue by funding Dr Bale to undertake culturally specific dissemination activities to  affected families, clinicians and education providers. Dr Baple prodiced  disease specific information leaflets for each target group, held family information days and provided education meetings for health care workers and school teachers. This dissemination approach was aimed at reducing the social and financial burden on the Amish community and ultimately improving health and developmental outcomes of those affected by the disorders. 

Disseminating research results

  • Why we need to fund dissemination of research results

    Alexander Fleming dissemination awards provide support for the dissemination of MRC and Medical Research Foundation-funded research results beyond the scientific peer reviewed press, to patients, participants, practitioners and policy makers.

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