Conditions Tested in Early Check
Early Check tests for two extra conditions beyond regular newborn screening: fragile x syndrome and spinal muscular atrophy.
Which conditions will Early Check test for?
All babies born in North Carolina are already screened for a set of 37 health conditions shortly after birth as part of standard testing. Early Check provides extra, optional tests for babies whose parents sign up for the program: spinal muscular atrophy and fragile X syndrome.
Over time, we plan to offer tests for additional conditions as part of Early Check. Our team of experts will review and select these conditions using a common set of guidelines. Learn how we choose conditions for Early Check.
What is spinal muscular atrophy?
SMA is a genetic condition affecting about 1 in 10,000 new babies in the United States. Over time, muscles of people with SMA get smaller and weaker from poor communication between the spinal cord and muscles. This weakness can be very mild or very severe. People with SMA can begin showing signs and symptoms at different ages, ranging from shortly after birth to adulthood. The condition can lead to death in early childhood or later depending on the type of SMA. Currently, there is no cure for SMA, but there is one approved treatment.
READ MORE ABOUT SMA AND THE IMPACT IT HAS ON CHILDREN AND FAMILIES:
SMA is a genetic condition that robs people of physical strength by affecting the motor nerve cells in the spinal cord. This can take away their ability to walk, eat, or breathe. It's the number one genetic cause of death for infants.
SMA is caused by a variation in a gene in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene manages nerves that control our muscles. Without it, those nerve cells can’t properly function and eventually die, leading to debilitating muscle weakness. About 1 in every 50 Americans is a genetic carrier of SMA, which can affect any race or gender.
People with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.
For now, there is no cure for SMA, but there’s great reason for hope. Thanks to the dedication of the SMA community and the hard work of researchers, there is now Spinraza, the first-ever approved treatment that targets the underlying genetics of SMA. Also, other support services can help with breathing, eating, mobility, palliative care, and other symptoms and challenges.
"There is hope in treating SMA, particularly for children who are diagnosed at or very soon after birth and receive prompt treatment! My family is proof of that."
– Amy Medina, mother of two sons with SMA
What is fragile X syndrome?
Although FXS is a rare health condition, it is the most common intellectual disability passed through genes from parents to babies. About 1 in every 4,000 males, and 1 in every 6,000 females has FXS. It causes moderate to severe intellectual challenges and language problems. Children with FXS may also have social and behavioral difficulties. This means they may have problems with attention, impulsive actions, and anxiety. Boys with FXS usually have more severe problems than girls. Individuals with FXS typically have normal life spans.
READ MORE ABOUT FXS AND THE IMPACT IT HAS ON CHILDREN AND FAMILIES:
FXS is a genetic condition caused by changes in a gene that is on the X chromosome. This gene is called the FMR1. Everyone has this FMR1 gene on their X chromosome. Women have two X chromosomes, so they have two copies of this gene. Men have one X chromosome and one Y chromosome, so they have only one copy of the gene.
The FMR1 gene usually makes a protein that is needed for normal brain development. People who have FXS do not make this protein. Women often have milder symptoms than men because they have two X chromosomes. While one of their X chromosomes may not be producing the healthy FMR1 protein, the other one is.
A child with FXS might have learning disabilities or developmental delays in walking and talking. They might also experience anxiety, hyperactivity, and a short attention span. Some children with FXS also have autism. Physically, they may have an elongated face, large ears, and loose connective tissue, which can result in ear infections, hernias, and loose joints.
There is no cure for FXS, but if your child has the condition, you can begin early support services. These services can help your child learn to walk and talk. They can also help you, as a parent, prepare to address characteristics of FXS in your child, such as difficulties processing tastes and smells. There are doctors who work specifically with people who have FXS to develop the best treatment plan.
Early Check offers an extra result called fragile X premutation, which can have milder symptoms than fragile X syndrome or no symptoms at all. Early Check will know if a baby has fragile X premutation through the same screening test used for fragile X syndrome. Adult mothers who sign up for Early Check can choose to get the extra result. Moms must log in and do a separate sign up within 48 hours after enrolling their babies in Early Check. Moms only have 48 hours to sign up because the lab does all the screening together.”
"Early intervention has given us the opportunity to give our son Jack access to therapies, such as occupational therapy and speech therapy, that helped him learn to talk and learn to play with toys. Jack has come a long way, in part due to all the early intervention therapies he received."
– Lisa Thomas, mother of a son with FXS
What is Muscular Dystrophy?
The muscular dystrophies are a group of rare diseases that cause muscle damage and weakness. Duchenne (DMD) is the most common muscular dystrophy that affects children. It is also one of the most severe muscular dystrophies. It causes weakness that gets worse over time and leads to early death, often in the adulthood. It happens most often in boys, but girls can sometimes be affected. About 1 in every 5000 boys has Duchenne.
The other muscular dystrophies are even less common and can happen in boys or girls. Early Check screening will not find all types of muscular dystrophy.
Currently, there is no cure for the muscular dystrophies, but there are treatments and early intervention services that can help.
The muscular dystrophies are genetic conditions that cause damage to muscles cells that cannot be repaired as happens in healthy people. This means that muscles continue to get weaker over time. Some muscular dystrophies cause severe weakness in muscles of the heart, usually causing death in early adulthood. Other muscular dystrophies cause milder weakness and result in a normal lifespan.
The most common muscular dystrophy is Duchenne (DMD). It is caused by a variation in the DMD gene. In a healthy person, this gene provides the instructions for an important protein called dystrophin that protects the muscle fibers from damage. Variations in the DMD gene lead to a lack of dystrophin and muscle damage that cannot be repaired.
Parents of a child with muscular dystrophy have an increased risk for having future children with the same condition. Parents can have testing and genetic counseling to learn whether that risk is high or low, which is important when planning for more children.
Children with Duchenne (DMD) can begin to experience muscle weakness as early as age 2 or 3 years of age. This is typically first noticed in the neck, shoulders, upper arms and thighs, making it difficult to run, climb stairs, lift the arms, and stand up from sitting on the floor. Balance can also be affected.
More rare childhood muscular dystrophies can cause symptoms to begin as early as at birth for the congenital muscular dystrophies or much later in childhood for other forms. Symptoms can range from mild to severe.
There is currently no cure for the muscular dystrophies, but early intervention, medication, and promising new treatments can help. Early treatment can reduce muscle damage and help to preserve strength. For some, targeted gene therapy may slow the progression of the disease.
Learn more about muscular dystrophy, support and information for families, and promising research at the Muscular Dystrophy Association.
Our team has outlined a set of guidelines for reviewing and selecting health conditions for screening in Early Check. The condition must be one that:
- Usually begins showing signs and symptoms in childhood
- Is difficult to diagnose early
- Causes serious sickness, death, or has a big impact on families
- Has a low-cost and proven lab test that can be performed on blood taken from a heel prick
- Has follow-up support services available for affected children
- Has new treatments being developed that may be more effective when used very early in life
Another important guideline for selecting conditions is that screening would likely lead to an overall benefit for babies or families.
In time, we plan to add a third condition or set of conditions to Early Check. We’ll draw on our guidelines, the advice from our board of expert advisors, and the most up-to-date scientific evidence to find conditions that fit with the goals of Early Check.
"Without early screenings, it is extremely hard to conduct clinical studies to help infants with rare conditions. This creates a barrier to developing new therapies. Early Check will fill this gap, benefitting science as well as patients."
– Dr. Lisa Gehtland, Early Check project director