CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABILITY
Journal Title: Journal of Special Education and Rehabilitation - Year 2016, Vol 17, Issue 3
Abstract
Intellectual disability is a lifelong debilitating developmental disorder with important genetic contribution, which remains challenging to investigate due to high clinical and genetic variability. Finding the etiologic diagnosis of ID, however comes with great benefits for patients and their families, therefore establishing a genetic diagnostic pathway with right combination and succession of diagnostic tools is crucial for both prevention and appropriate treatment and/or rehabilitation of patients with ID. New diagnostic tools in genetics such as array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) have much higher detection rate for genetic aberrations responsible for ID and have enormous potential to shorten the path to diagnosis, as early diagnosis is a cornerstone for medical and non-medical management of persons suffering from ID.
Authors and Affiliations
Ana PETERLIN | Clinical Institute of Medical Genetics University Medical Center Ljubljana, Slovenia, Borut PETERLIN| Clinical Institute of Medical Genetics University Medical Center Ljubljana, Slovenia
Keywords
Related Articles
- EP ID EP7994
- DOI -
- Views 634
- Downloads 69
PERMANENT PROFESIONAL INPROVEMENT OF SPECIAL TEACHER (PERSONEL)- LEGISLATIVE OBLIGATION
Za pouspe{na i poefikasna integracija na licata so pre~ki vo razvojot vo socijalnata sredina, vo R. Makedonija organizirano e zadol`itelno osnovno obrazovanie na ovie lica, so {to e ostvareno nivnoto ustavno zagarantiran...
INTERDISCIPLINARY APPROACH AND THE PROBLEMS OF THE PARENTS AND CHILDREN WITH DEVELOPMENTAL DIFFICULTIES IN SLOVENIA’S PRIMARY SCHOOLS
Cooperation between experts, parents and children, based on the respect and with wish for giving the best opportunities for the child's development. The child with developmental difficulties didn't has "transients condit...
AUTISM ON THE INTERNET
The Internet as the world wide information system is a global information network that provides instantly communication between a million users through its services. The Internet can be used in any science discipline esp...
USED TERMINOLOGY FOR HANDICAPPED PEOPLE
For easier and more simply reconcile the position of the terminology, we want to emphasis who are the persons with handicap, or disabled persons for whom we are going to make effort to find the authentic terms. In many d...
EARLY TREATMENT OF CHILDREN WHIT INTRACRANIAL HEMORRHAGES IN THE ADVISORY INSTITUTION FOR DEVELOPMENT IN BITOLA
In the period 1985-1995, 38 children with intracranal hemorrhages were treated in the Advisory Institution for Development in Bitola. Out of them: · or 44.7% were no consequences; · or 18.4% were with m...