The Feeding Issues Found in Kids With 3q29 Deletion Syndrome

Many parents and caregivers of children with 3q29 deletion syndrome (3q29Del) know what a struggle mealtime can be. It’s more than just pickiness; it’s a cycle of disordered eating that takes a physical and emotional toll on both the child and caregiver. 

By some estimates, up to 64% of children with 3q29 deletion syndrome experience feeding problems by the time they’re a year old. 

The term pediatric feeding disorder (PFD) currently lacks a standard definition. The development and treatment of this group of disorders are complex, and professionals tend to view them through the lens of their specific expertise. However, the World Health Organization proposes PFDs be defined as “impaired oral intake that is not age-appropriate, and is associated with medical, nutritional, feeding skill, and/or psychosocial dysfunction.”

Underlying physical, neuropsychiatric, and neurodevelopmental challenges contribute to the presence of PFDs. In turn, the nutritional deficiencies that occur as a result can further exacerbate these issues or create new ones. 

Since PFDs can take many forms, researchers at The 3q29 Project sought to identify which PFD symptoms show up most often in kids with 3q29Del. This study was published in The Journal of Developmental and Behavioral Pediatrics in 2021.

You can read the full study here or continue reading the overview below.

About the Study

The research team was already aware 3q29 deletion syndrome is associated with mild to moderate intellectual disability and an increased risk for autism spectrum disorder (ASD), anxiety disorders, and schizophrenia. Failure to thrive, global developmental delays, low birth weight, and gastrointestinal issues are also more common compared to the general population. 

As a result, babies and children with 3q29Del may be at elevated risk for pediatric feeding disorders. The two questions researchers were looking to answer were:

  1. What are the symptoms of PFDs that are specific to children with 3q29 deletion syndrome?

  2. Are symptoms different among those who also have a diagnosis of ASD or global developmental delay (GDD)?

Through the 3q29 registry, the feeding behavior of 83 people with 3q29Del was compared with that of 59 control subjects. Information was obtained through questionnaires completed by the study participants or their caregivers. Of the 60 participants with 3q29Del, 20 also had an ASD diagnosis and 41 reported GDD. 

The survey included questions about the following topics: 

  • Food refusal behaviors such as crying, throwing food or utensils, aggression, elopement, spitting food, and negative statements

  • Rejection of one or more food groups (proteins, starches, fruits, and vegetables)

  • Use of feeding tube

  • Ability to feed oneself

  • History of failure to thrive

What the Study Found

Researchers found that compared to the control group, those in the 3q29Del group were more likely to engage in food refusal behaviors. They also tended to avoid one or more food groups.  

Among the entire study group (the 60 individuals with 3q29Del):

  • 7.3% needed a feeding tube and 12.1% reported having to supplement the diet with formula

  • Nearly half (44%) of children with 3q29 deletion had a history of failure to thrive

  • 34% had a history of anemia

  • Children with 3q29 del display on average 1-2 food refusal behaviors during meals, including pushing away food, spitting out food, aggression or disruptions during mealtime, and leaving the table.  

  • 59% were described as “highly selective eaters”

When comparing the data between study participants with and without ASD, there were some additional findings: children with 3q29 del and ASD are more likely to have symptoms of pediatric feeding problems than children with 3q29del without ASD. This also is true for children with 3q29Del and GDD: they are more likely to have symptoms of pediatric feeding problems than children with 3q29del without GDD. 

Additionally, the researchers noted clinically meaningful differences in rates of food refusal behaviors, picky eating, history of failure to thrive, desire to eat only smooth/pureed foods, and inability to feed themselves among those with ASD. The study did not find statistically significant differences here, but researchers suspect that’s because the sample size was so small. 

40% of 3q29Del participants refused all food from at least one food group.

What It Means

Because children with 3q29Del may already experience atypical growth patterns and neurodevelopmental delays, their micronutrient and caloric intake is especially important to support their development and overall health. Unfortunately, they’re also at a higher risk for developing pediatric feeding disorders.

The researchers believe screening for PFDs and addressing feeding concerns should be standard protocol for children with 3q29Del. This allows caregivers the opportunity to seek early intervention.

Early intervention and an increase in oral food consumption can help prevent or reduce the negative impacts of poor nutrition on childhood growth and development, and therefore should be a high priority for pediatricians working with children with 3q29Del.

The research team acknowledges this study has its limits due to its small sample size and subjectivity of questionnaires.