Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Genetic Biomarkers Associated with Autism Spectrum Disorders Identified

By LabMedica International staff writers
Posted on 17 Dec 2019
Autism spectrum disorder (ASD) refers to a group of neurodevelopmental conditions resulting in challenges related to communication, social understanding and behavior. More...
Studies show families who have a child with ASD have a 6.9% to 19.5% chance of another child having ASD and a 30% to 40% chance of another child having atypical development.

One of the key priorities of interventions for autism spectrum disorder (ASD) is starting early, with some evidence showing infants as young as seven months old could benefit. Yet, most children in North America are not diagnosed with ASD until they're over four years of age. Identification of genetic biomarkers associated with ASDs could improve recurrence prediction for families with a child with ASD.

A group of scientists collaborating with the Hospital for Sick Children (Toronto, ON, Canada) enrolled in a study, participants from 253 families enrolled (134 from USA sites and 119 from Canada). A total of 253 probands, 322 siblings (including 288 infant siblings), and 447 parents (242 mothers; 205 fathers) constituted the final cohort and were analyzed. All families had at least one child (i.e., the proband) diagnosed with ASD.

For microarray analysis, biological samples were obtained from 251 probands, 321 siblings and 444 parents (241 mothers; 203 fathers) at their respective recruiting sites (total samples = 1,016). Genomic DNA used for genotyping on microarray was extracted from whole blood (86.0%; 874/1,016 samples), saliva (0.4%; 4/1,016), lymphoblastoid cell lines (10.4%; 106/1,016), or source undocumented (3.1%; 32/1,016). Genomic DNA samples were processed on the high-density CytoScan HD microarray platform (Affymetrix, Santa Clara, CA, USA).

The team reported that the clinical microarray findings for 253 longitudinally phenotyped ASD families, encompassing 288 infant siblings showed that by age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: six with ASD, five atypically developing, and two typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83. The team has confirmed similar findings in a separate group of 2,110 families having one child with, and a second child without ASD.

Lonnie Zwaigenbaum, MD, FRCP (C), a Professor of Pediatrics and a senior study author, said, “These findings add to a growing body of evidence that biomarkers might be helpful in identifying pre-symptomatic infants who are likely to develop ASD or other developmental challenges.” The study was published on December 5, 2019 in the journal Nature Communication.

Related Links:
Hospital for Sick Children
Affymetrix



Gold Member
Troponin T QC
Troponin T Quality Control
3-Part Differential Hematology Analyzer
Swelab Alfa Plus Sampler
New
Drug Test Kit
DrugCheck 3000
New
Silver Member
Autoimmune Hepatitis Test
LKM-1-Ab ELISA
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more

Pathology

view channel
Image: Pancreatic cancer diagnosis (Photo courtesy of World Journal of Gastroenterology)

AI-Driven Preliminary Testing for Pancreatic Cancer Enhances Prognosis

Pancreatic cancer poses a major global health threat due to its high mortality rate, with 467,409 deaths and 510,992 new cases reported worldwide in 2022. Often referred to as the "king" of all cancers,... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.