Action Medical Research

Manchester University NHS Foundation Trust119 enrolled

Overview

Learning disability affects 3% of the population. Severe types of learning disability are more likely to have an underlying genetic cause but diagnosis is difficult because many different genetic abnormalities may be involved. Obtaining a diagnosis is important so that patients can be managed appropriately and their families can be given accurate information. We aim to use new types of genetic testing which will make it possible to screen for several different genetic abnormalities which cause learning disability at the same time, so improving the accuracy and speed of diagnosis in the group of patients with severe learning disability. We will focus particularly on patients where seizures and behavioural problems are also present.This will enable more patients to be diagnosed accurately, reduce the number of hospital appointments needed and ultimately be more cost- effective.

Study Type

OBSERVATIONAL

Enrollment

119

Conditions

Learning Disabilities

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Individuals with severe learning disability associated with either seizures, movement or behaviour problems who had previously undergone routine investigation but where no cause had been identified for their problems Exclusion Criteria: * Individuals with SLD where the cause is already known * Individuals where informed consent cannot be obtained for participation

Locations (1)

Outcomes

Primary Outcomes

Genetic abnormality identified by microarray or Next Generation Sequencing

Abnormalities identified upon results of testing, the normal timeframe for this is up to 6 months after collecting blood sample.

Time frame: up to 6 months following consent

Secondary Outcomes

Cost effectiveness vs normal care

This analysis will be performed for all participants following close of recruitment \& follow up, and will be completed by the time the study ends.

Time frame: By the end of the study (December 2014)