How Important Is Early Intervention for Kids With 3q29 Syndromes?
Short answer: it could be a game changer.
As a parent (or soon-to-be parent) of a child with a chromosome 3q29 syndrome, understanding how to help your little one probably tops your list of priorities.
Because of research, we now know a 3q29 diagnosis comes with a long list of potential medical and developmental challenges. Luckily, this same research shows there are ways to help reduce the lasting impacts of initial delays—through early intervention.
Here, we’ll explain what early intervention is, why it’s helpful for kids with a 3q29 syndrome, and how to access it.
Note: the topic of early intervention is a big one. Your specific situation—including where you live, what your child needs, and the resources available to you—impacts what early interventions are available. This is the first of what will be a series of posts diving into the nuances around accessing early intervention in the U.S. and internationally.
What Is Early Intervention?
In the U.S., the Centers for Disease Control defines early intervention as:
“Services and supports that are available to babies and young children with developmental delays and disabilities and their families.”
Notice this definition doesn’t specifically mention 3q29 deletion or duplication syndromes. This is because early intervention is useful for any child who needs extra developmental support. (No official diagnosis needed!)
Early intervention can include:
Occupational therapy
Physical therapy
Nutritional/feeding therapy
Special education
Speech/language therapy
Behavioral therapy
Other types of therapies
There are a lot of different ways early intervention plans can be structured and implemented. Factors considered include your specific needs, where you live, and if you’re paying for the services privately or they’re provided by the state in which you live.
Some programs are designed to be done at home (the therapist comes to you) and other programs require participation at a facility or center. If your child is old enough to be in school, therapy sessions can even occur there if appropriate.
No matter what, though, someone gives your child an age-appropriate assessment and works with caregivers to establish goals and determine how best to reach them. More often than not, sessions with therapist(s) need to be held on a regular basis in order to make progress.
Types of Early Intervention Therapies Helpful for 3q29 Deletion and Duplication Syndromes
Feeding and Nutrition Therapy
A vast majority of babies with 3q29 deletion anad 3q29 duplication syndrome experience some sort of feeding difficulty. Given the importance of nutrition for any baby, especially one whose body may have additional nutrient needs, feeding and nutrition therapy tops the list.
Depending on the area of concern, therapists might work on improving oral-motor skills, swallowing abilities, and sensory issues related to food. They could also suggest foods that help a child meet their nutritional needs, as well as make referrals to other specialists.
Not only does feeding and/or nutrition therapy help kids with 3q29 syndromes maintain healthy growth and development, it addresses factors around eating and mealtime that impact the entire family.
Speech and Language Therapy
Like feeding and nutrition support, speech and language therapy is often necessary for kids with 3q29. As we know, the ability to perceive language and use it effectively determines many important areas of well-being.
For example, communication affects how easily we can get our needs met, our relationships with caregivers and the world around us, and our ability to learn.
Many children with 3q29 show signs of some developmental delay in the area of speech and language. Here, though, experiences vary. For example, some show a mild speech delay while others are completely nonverbal.
So, speech and language therapy is an intervention designed to address communication challenges. The main goal is to improve a child’s ability to express thoughts, needs, and emotions effectively. This is the case even if a child isn’t communicating verbally.
Some areas of focus include speech articulation, language comprehension, and expressive skills. Additionally, therapy targets social communication skills, helping kids engage in conversations, build friendships, and navigate social interactions successfully.
Occupational Therapy
Occupational therapy (OT) focuses on fine and gross motor skills, sensory processing, and self-care abilities—areas known to be challenging for many kids with 3q29.
The goal is to help develop the essential skills required for daily activities and participation in various environments like school, home, and eventually, the workplace.
Therapists work with children to perform tasks like dressing, eating, and writing. Besides teaching useful skills, OT helps foster independence and improve overall quality of life.
Occupational therapists also address sensory sensitivities and behavioral challenges to promote self-regulation and emotional well-being. As a result, OT tends to overlap with other types of therapies like feeding, speech and language, and special education.
Physical Therapy
A common feature of 3q29, especially in cases of deletion, is low muscle tone. This in part (though not fully) explains why many babies with 3q29 don’t reach crawling and walking milestones on time.
Physical therapy (PT) can help promote functional independence by improving mobility, strength, and coordination. This helps kids to engage actively in daily activities like school or playtime.
Therapists design personalized exercises and interventions to address specific physical challenges such as motor delays, muscle weakness, or balance issues. They also help manage pain and discomfort should there be any.
Another benefit—optimizing physical strength, coordination, and mobility can increase the likelihood they’ll want to participate in sports and social interactions. This, in turn, helps build relationships and self-esteem.
Special Education
Early intervention involving special education is a support system designed to address the unique requirements of children with special learning needs during their formative years.
The purpose of special education is to identify what areas of learning need support and provide specialized services to address them.
This type of intervention focuses on improving cognitive, communication, social, and/or motor skills. Like the other types of therapies, special education can encompass other therapeutic techniques.
Specialized education delivered early can help kids with 3q29 bridge developmental gaps and gain the skills they need to learn alongside genetically-typical peers, even in mainstream educational settings.
Behavioral Therapy
Sometimes, children with 3q29 deletion or duplication exhibit behavior that requires attention. This isn’t to say they’re not well-behaved (though what kid isn’t at times?).
Rather, other factors like communication challenges, poor nutrition, or unique brain chemistry can lead to problematic behavior that further complicates development.
For example, it’s common for children and adults with 3q29 to experience anxiety. However, anxiety can interfere with all aspects of life including learning, willingness to participate in activities, and ability to be independent.
The purpose of behavioral therapy, then, is to promote positive behavior patterns, improve emotional regulation, and enhance social skills.
Behavioral therapists work closely with children and their families to identify triggers and develop strategies to replace undesirable behaviors with more appropriate ones. This ultimately improves well-being, social interactions, and development as a whole.
Where to Find Early Intervention
Birth to Age 3
If you’re in the U.S., each state and territory has what’s often called the “Birth to 3” program. Any caregiver with a concern about their child’s development (remember, no diagnosis needed!) can contact their local early intervention office to see if it’s appropriate for their situation.
This is a free service. However, since resources vary from state to state, it may be harder to get early intervention services in some areas. If you live in a sparsely-populated area, for example, there may not be many therapists in your geographic area.
Still, the benefit of early intervention is well-recognized and worth pursuing no matter where you are. While some localities limit access to prioritize need, others are solutions-focused and accommodating.
This website links to each state’s early intervention programs.
Ages 4 and Up
After age three, children are no longer eligible for Birth to 3 services. However, a concerned caregiver can still contact their local public school (even if the child isn’t enrolled). In theory, public schools are required to offer free and appropriate special education services.
Real talk: while school districts are required to provide appropriate education and therapies, in reality, this can be a complicated, frustrating, and disappointing process to navigate for some families.
Here’s a resource that can begin to point you in the right direction.
Private Therapy
An alternative or supplement to publicly-funded early intervention is private therapy. This is when a caregiver of family works with a specialized therapist and pays through insurance or out-of-pocket.
Unfortunately, health insurance often doesn’t cover all of the therapies a child with 3q29 could benefit most from, and therefore accessing this type of intervention may not financially possible for many families.
Early Intervention and Autism Associated With 3q29
In studies, researchers found that about 26% of those with the deletion also had a diagnosis of ASD (autism spectrum disorder). That number went up to 39% for people with the duplication.
While the sample sizes for the studies were small, there’s no question kids with 3q29 are more likely than those in the general population to fall somewhere on the spectrum.
Like any other manifestation of 3q29, early intervention helps to:
Maximize developmental potential
Reduce severity of symptoms
Improve long-term outcomes
Support and empower families
Children with an autism diagnosis, or behavior that suggests autism, might benefit from any of the above mentioned therapies.
Final Thought
If you’re just beginning to learn about the benefits of early intervention and how to navigate it, we know it might feel overwhelming. Emotions aside, accessing it may be a frustrating process depending on your specific situation.
That said, stepping in as soon as possible, however possible, may be well worth the effort. We know that early intervention can help children reach developmental milestones sooner, succeed in school, manage uncomfortable feelings, and build meaningful relationships.
Here’s a chart of recommendations you can read, print, and share with your 3q29 care team.
(Reviewed for accuracy by Krista Frahm, MOT/L)