Advertisement

Topics

Targeted Next Generation Sequencing and Intellectual Disability

2016-09-06 16:08:21 | BioPortfolio

Summary

The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities. In other words, it concerns the number of patients whose etiologic diagnosis will be established with NGS and could not with common techniques. Actually, the molecular etiology of intellectual disability is crucial to calculate the risk of recurrence and allows the perinatal diagnosis to these families.

Secondary purposes are:

1. To determine the place of NGS in the strategy of etiologic diagnosis of intellectual disability, to determine the order of analyses performed for a patient with intellectual disability without clinical signs.

2. To evaluate the number of variants with unknown significance and thus non-usable for genetic counselling without supplementary analysis.

3. To determine the number of samples that can be at most pooled keeping a good efficacy of capture and results with suitable read depth

4. To determine the possibility of detecting copy number variations (CNVs) in genes of interest with NGS

5. To establish genotype/phenotype correlations for each gene for which a mutation has been identified

6. To optimize the software pipelining for a rapid analysis for diagnosis.

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Conditions

Intellectual Disability

Intervention

Blood sample

Status

Active, not recruiting

Source

Central Hospital, Nancy, France

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-09-06T16:08:21-0400

Clinical Trials [650 Associated Clinical Trials listed on BioPortfolio]

Prevention Among Young People With Intellectual Disability

This study aims to evaluate an intervention using the Toolkit "Children - what does it involve?" and the "Real-Care-Baby" (RCB) simulator among students with intellectual disability (ID), ...

THE FELDENKRAIS METHOD FOR PEOPLE WITH INTELLECTUAL DISABILITY

Loss of functioning and age-related health problems tend to appear earlier in individuals with intellectual disability (ID) than in their non-disabled peers and due to this people with ID ...

Vibration and Cold for Pain Relief During Peripheral Intravenous Cannulation in Children With Intellectual Disability

Needle procedures are the most common and important source of pain and distress in children in the health care setting. Children with intellectual disability from any cause experience pain...

Awareness on Cancer in Persons With Intellectual Disabilities

Context People with intellectual disability (PWIDs), nearly 1,300,000 adults and children in France, develop as many cancers as persons in the general population. However, their tumors are...

Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder

Quality of mental health services provision for adults with intellectual disability and comorbid mental disorder is considered inadequate and therefore in need of further improvement. Howe...

PubMed Articles [11770 Associated PubMed Articles listed on BioPortfolio]

Genetic testing in children and adolescents with intellectual disability.

Investigation for genetic causes of intellectual disability has advanced rapidly in recent years. We review the assessment of copy number variants (CNVs) and the use of next-generation sequencing base...

Book Review: Diagnostic Manual - Intellectual Disability (DM-ID 2): Textbook of Diagnosis of Mental Disorders in Persons With Intellectual Disability.

Dementia care mapping to support staff in the care of people with intellectual disability and dementia: a feasibility study.

The number of people with intellectual disability and dementia increases; this combination causes behavioural changes. Dementia Care Mapping (DCM) supports staff in dementia care in nursing homes and ...

Development of a cognitive behavioural therapy-based guided self-help intervention for adults with intellectual disability.

Despite strong evidence for cognitive behaviour therapy (CBT) in treating mental health, its use, thus far, has been limited for people with intellectual disabilities. This study describes a CBT-based...

Discourse of needs versus discourse of rights: family caregivers responding to the sexuality of young South African adults with intellectual disability.

Although most people with intellectual disability remain under the lifelong care and support of their families, there is a hiatus in research that explores the sexuality of people with intellectual di...

Medical and Biotech [MESH] Definitions

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

The fraction of a blood sample, following CENTRIFUGATION, that is distinguished as a thin light-colored layer between the RED BLOOD CELLS, underneath it, and the PLASMA, above it. It is composed mostly of WHITE BLOOD CELLS and PLATELETS.

The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.

The number of LEUKOCYTES and ERYTHROCYTES per unit volume in a sample of venous BLOOD. A complete blood count (CBC) also includes measurement of the HEMOGLOBIN; HEMATOCRIT; and ERYTHROCYTE INDICES.

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

More From BioPortfolio on "Targeted Next Generation Sequencing and Intellectual Disability"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Trial