3q29 Deletion Syndrome: Independent and Practical Living Skills
People with 3q29 deletion syndrome (3q29del) often learn and develop differently than those without the condition. Researchers have already described some of the relative strengths as well as some areas where those with 3q29del may need extra support.
One aspect of development that hadn’t been studied until recently was how 3q29del affects “adaptive behavior”. Adaptive behavior refers to how well someone can carry out age-appropriate, everyday tasks on their own.
Examples of adaptive behaviors include talking to others, shopping, cleaning, budgeting, grooming, following directions, and completing tasks on time.
Understanding how 3q29del affects adaptive behavior is important because it can predict a person’s ability to live independently and impacts quality of life as adults.
Study results showed that people with 3q29del usually have some degree of adaptive behavior deficits, though it varies from person to person. With this information, targeted interventions can be developed.
You can read the full study here or continue to read the overview below.
About the Study
This study was carried out by researchers involved with the 3q29 Project. Thirty-two volunteers with a 3q29del diagnosis ranging from ages 4 to 39 participated in the study. Some had additional diagnoses (comorbidities). Examples of comorbidities in this study included ASD, ADHD, anxiety, and intellectual disability.
They completed a test called the Vineland Adaptive Behavior Scales which assessed communication, daily living, motor, and social skills.
Researchers wanted to find out two things:
Does 3q29del affect adaptive behavior? If so, in what ways?
If deficits in adaptive behavior are found, how do they compare to those found with other genomic conditions such as fragile X and 22q11.2 deletion syndromes?
What the Study Found
The study found that those with 3q29del had significant global deficits in overall adaptive behavior, with impairments spread across all of the areas measured rather than isolated to a specific one.
The areas measured were daily living skills, motor skills, socialization, and communication.
Researchers made the following observations:
Having a neurodevelopmental or psychiatric comorbidity had only a small effect on adaptive functioning. However, the number of comorbid conditions was significantly associated with lower adaptive scores.
Executive function (problem-solving and goal-setting skills) predicted adaptive behavior outcomes more strongly than cognitive ability.
On average, scores were lower in all domains than the population mean. However, individual performance was quite variable, with some individuals scoring at or above the population mean, highlighting how different experiences can be with 3q29del.
Broken down by sub-domain, relative strengths and deficits were noted:
Communication domain: Participants scored relatively stronger in the expressive communication sub-domain and showed the most severe deficit in the written communication sub-domain.
Socialization: Those with 3q29del had relatively stronger performance on the play and leisure sub-domain and comparable deficits on the interpersonal relationships and coping skills sub-domains.
Daily living skills: Participants scored consistently across all sub-domains (personal, domestic, and community) and was an area where they had the most challenges.
Motor skills domain: Participants with 3q29del scored consistently across both sub-domains (gross motor and fine motor) and was an area of relative strength.
Finally, the adaptive behavior deficits observed with 3q29del seem to be milder than those found with other genomic conditions like fragile X and 22q11.2 deletion syndromes.
What it Means
Adaptive skills are required for independent living. Researchers now have evidence that people with 3q29del can struggle with some of the skills that seem to come naturally to others.
This is good to know because it means people with 3q29del and/or their caregivers can look for signs of adaptive functioning deficits and address them early and throughout life as needed.
This study mentions specific interventions that can be effective. For example, occupational therapy can help with development of the motor skills needed to complete everyday tasks, and reading and writing support can improve written communication skills.
There are also ways to support executive functioning. Integrative mind-body training and mindfulness-based interventions can be helpful for younger children, while executive function coaching might be more appropriate for teens and young adults. A program called Unstuck and On Target is widely used to foster skills in children with autism.
This study was a good starting point but has some limitations including its small sample size, lack of racial and ethnic diversity, and young age of participants. More research is needed.