Action Medical Research

Using New Genetic Technology to Diagnose Neurodevelopmental Disorders

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 Overview

• Status: Completed
• Conditions: Learning Disabilities

• Study Type: Observational
• Enrollment (Actual): 119

Contacts and Locations

Study Locations

• United Kingdom
  • Manchester, United Kingdom, M13 9WL
    • Central Manchester University Hospitals NHS Foundation Trust

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

We will approach a cohort of patients with severe LD/seizures/behaviour problems who have presented to us in our genetic clinic for diagnosis over the past few years, but where the cause of their problems remains unknown. This will be our study population. In virtually all cases we will have performed routine diagnostic testing and will have stored DNA.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Microarray / NGS test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	up to 6 months following consent

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	By the end of the study (December 2014)

Collaborators and Investigators

• Sponsor: Manchester University NHS Foundation Trust
• Investigators: Principal Investigator: Jill Clayton Smith, MB ChB FRCP MD, CMFT

Study record dates

Study Major Dates

• Study Start: February 1, 2011
• Primary Completion (Actual): December 1, 2013
• Study Completion (Actual): June 1, 2015

Study Registration Dates

• First Submitted: August 26, 2014
• First Submitted That Met QC Criteria: August 27, 2014
• First Posted (Estimate): August 28, 2014

Study Record Updates

• Last Update Posted (Actual): December 4, 2018
• Last Update Submitted That Met QC Criteria: November 30, 2018
• Last Verified: November 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Neurodevelopmental Disorders; Communication Disorders; Learning Disabilities
• Other Study ID Numbers: 10/H1003/98; SP4555 (Other Grant/Funding Number: Action Medical Research)