It’s been almost 35 years since President Ronald Reagan recognized March as Developmental Disabilities Awareness Month, and while it’s been great to see public awareness, understanding, and acceptance grow over time, there is much more work to be done. Since education is one of the first steps to take, we’ve put together resources to better understand developmental disabilities, their impact and frequency, and how CMT can help in improving patient care.
What is a Developmental Disability?
The CDC defines DD as “a group of conditions due to an impairment in physical, learning, language, or behavior areas. These conditions begin during the developmental period, may impact day-to-day functioning, and usually last throughout a person’s lifetime as impairments.”
61 million adults in the US live with a disability, and recent estimates show that ~1 in 6 children ages 3-17 have at least one DD. Developmental monitoring and screening aids towards early diagnosis and the successful treatment of DDs, with the ultimate goal of patients leading productive lives and achieving their full potential.
What Causes Developmental Disability
Not all disabilities have a known cause, but research has shown the following to be true:
- Getting enough folic acid, a B vitamin, at least one month before getting pregnant and during early pregnancy lowers the risk of having a baby with serious birth defects of the brain and spine (neural tube defects).
- Drinking alcohol during pregnancy can cause the baby to be born with fetal alcohol spectrum disorders (FASDs).
- Smoking in the month before getting pregnant and throughout pregnancy increases the chance of premature birth, certain birth defects (such as cleft lip, cleft palate, or both), and infant death.
- Women who are obese when they get pregnant have a higher risk of having a baby with serious birth defects of the brain and spine (neural tube defects), some heart defects, and other birth defects.
- Poor control of diabetes during pregnancy increases the chance for birth defects and might cause serious pregnancy complications.
- Low birthweight, premature birth, multiple birth, and infections during pregnancy are associated with an increased risk for many developmental disabilities.
- Taking certain medications during pregnancy can cause serious birth defects, but the safety of many of the medications taken by pregnant women has been difficult to determine.
If a parent or care giver suspects a child has a disability, it is important to contact a medical provider for screening, which can include genetic testing.
How CMT Can Help
Up to 40% of DDs may be caused by genetic aberration according to a study in the Journal of Developmental Disorders. Genetic tests available include: Conventional G-banded karyotyping, microarray-based comparative genomic hybridization (aCGH), and whole genome or exome sequencing.
There are many benefits to genetic testing, such as:
- Clarifying a genetic cause and improving knowledge and sense of empowerment for patients and their families
- Providing an expected clinical course
- Refining treatment options
- Avoiding unnecessary and redundant diagnostic tests
- Identifying associated medical risks to prevent morbidity
- Providing condition-specific family support
- Aiding in acquiring services and improving access to research treatment protocols
CMT is partnered with leading national and regional laboratories who provide different types genetic testing for women’s health and detecting DDs and Intellectual Disabilities, including NIPT and SMA.
Further Reading:
Contemporary Pediatrics – Genetic Testing for Intellectual Disability: A Role in Diagnostic Evaluation
NCBI – Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Spectrum News – Genetic Testing, Counseling Crucial in People with Developmental Delay
About CMT
CMT offers combined expertise in laboratory, technology solutions, and HUB services to help both patients and physicians. It is the market leader in molecular diagnostic patient access, offering prior authorizations, benefits investigation, notifications, genetic counseling, and more.