3q29 Deletion Syndrome: The Research Behind the Clinical Care Recommendations

If you’ve been coordinating care for a child with 3q29 deletion syndrome (3q29Del), you’ve probably faced questions about what conditions are part of the syndrome. As it turns out, a lot of things that usually wouldn’t seem to have anything to do with each other are actually related.

Health concerns from 3q29Del have been found across nearly every system of the body.

This is good to know when you’re trying to understand your child’s health. It especially helps to map out what providers to look for and what kinds of care to include for 3q29Del.

About the Study

This study is the first to build out a broader, more comprehensive report of the 3q29Del phenotype. (Phenotype means the “observable characteristics” associated with the syndrome.)

The study looked at 32 children and adults with 3q29Del. The participants spent 2 days in evaluations with medical experts. They went through medical and physical exams, neurodevelopmental evaluations, psychiatric evaluations, and neurological imaging and exams. Then, the researchers organized the information to find what characteristics are associated with 3q29Del.

This was a fairly large study given that the syndrome is so rare, but it’s also true that studying more people could uncover other findings. Also, because participants had to travel to participate in person, individuals with more severe behavioral challenges might have been less likely to participate and could be underrepresented.

For full details, see the study here. A summary of the findings is provided below.

What the Study Found

Researchers noted an impact on all major body systems as a result of 3q29 deletion syndrome. The most serious problems found are heart conditions. Gastrointestinal problems affect nearly everyone. Neurodevelopmental conditions are also very common and are a high concern for many.

Ear, nose, and throat issues like ear infections and nose bleeds (78%) 

Heart conditions

  • Structural cardiovascular disease (47%)

  • Congenital heart defects (25%)

Gastrointestinal symptoms including constipation, feeding difficulties, and failure to thrive (81%)

Enuresis, meaning accidental urination (24%)

Asthma (19%)

Allergies

  • Seasonal allergies (16%) 

  • Food allergies (13%)

Skin problems

  • Eczema (13%) 

  • Keratosis pilaris (13%)

Sleep disturbances (31%)

Neurological

  • Seizures (13%) 

  • Headaches (16%)

  • Abnormality in the posterior fossa was found (a part of the brain with the cerebellum and brainstem—this may be related to gross motor development, but the study did not find anything obvious about how this might affect people with 3q29Del)

Small size

  • Low height (16%) 

  • Low weight (25%)

  • Small head size (16%)

Musculoskeletal findings such as differences in the chest, fingers, toes, ankles, and flat feet (81%)

Neurodevelopmental

  • Intellectual disability (34%)

  • Autism spectrum disorder (38%)

  • Executive function deficits (46%)

  • Graphomotor weakness – Visual-motor integration weakness (78%)

  • Psychosis (19%) 

  • Psychosis prodrome (14%) – psychosis prodrome describes a set of symptoms that sometimes come before psychotic symptoms develop

  • Anxiety disorders (40%)

  • Attention deficit-hyperactivity disorder (63%)

Vision problems including strabismus, astigmatism, and myopia (almost 60%)

Dental problems (41%)

What it Means

This study shows the importance of the 3q29Del diagnosis itself. Knowing that all these conditions are part of 3q29Del makes a big difference in organizing the healthcare and therapies needed to best help children with 3q29Del.

With so many body systems and diagnoses associated with 3q29Del, families have to coordinate evaluations and ongoing care with many doctors. This chart can be a guide to make sure all the most important bases are covered.

The researchers highlighted some care recommendations that everyone should keep in mind.

  • Given the rates of heart conditions, anyone diagnosed with 3q29Del should also get an echocardiogram.

  • With fine motor and writing difficulties being so common, classroom accommodations and occupational therapy are important.

  • High rates of ADHD, anxiety and psychosis mean that a child/adolescent psychiatrist should be part of the care team to provide periodic evaluations and catch concerns over time.

  • Knowing that 3q29Del carries a risk for psychosis, be careful about using stimulant medications to treat ADHD. Stimulants can trigger psychotic symptoms. Instead, other medications like bupriopion and atomoxetine may be recommended.

  •  With a higher risk for ear infections and speech-language disorders, hearing screenings are important to catch any hearing issues that could interfere with language development.

Finally, researchers noted that people with 3q29Del generally test on the mild to moderate end of intellectual disability. Others test below normal, but too high to qualify for the intellectual disability diagnosis. However, adding cognitive challenges to all the other issues means that people with 3q29Del face a higher level of disability or difficulty than any one test result shows.