AmbitCare

June 27, 2022

What is Dup15q Syndrome?

Dup15q Syndrome (15q11-q13 duplication syndrome) is a genetic developmental disorder characterized by a wide range of signs and symptoms.  

The prevalence of Dup15q Syndrome is not well known. It could be as high as 1 in 5,000 people in the general population. People with intellectual disabilities are thought to have it about 10 times more often than people who don’t.

Cause of Dup15q Syndrome

Dup15q Syndrome is a genetic disorder (when something is wrong with your genes) caused by the duplication of a portion of chromosome 15. This chromosome duplication can cause a wide variety of physical and brain abnormalities, depending on which genes are duplicated. The syndrome was first identified in the early 1990s, and research into its causes and effects is ongoing.

One possible cause of Dup15q Syndrome is a mistake made during cell division. When a cell splits in two to create new cells, it copies its chromosomes evenly between the new cells. If something goes wrong during this process, one new cell can end up with too many or too few chromosomes. This can lead to serious health problems, including Dup15q Syndrome.

Another possible cause of Dup15q Syndrome is a change in the structure of the duplicated 15th chromosome. This change can happen without cause, or it can be passed down from one generation to the next.

Key Characteristics

Developmental Delays

  • Small head size
  • Heart defects
  • Kidney problems
  • Low muscle tone

Hypotonia (low muscle tone)—results in delayed development and impairment of motor abilities, including sucking, swallowing, walking and sitting.

Walking difficulties—Most kids who have Dup 15q Syndrome can walk on their own by the time they are 2 or 3 years old. They usually have a wide-based or uncoordinated (ataxic) walking pattern (gait).  

Speech & Language Delays—May exhibit autistic-like behaviors.

Hearing and Vision problems—About 30% of people with dup15q syndrome are born with eyes that don’t look in the same direction (strabismus).

Distinct Facial Features—A low forehead, down slanting palpebral fissures, upturned nose, a flattened nasal bridge, short, and anteverted nostrils are just a few of the other unusual facial features that can happen in this condition.  

Other features include a small lower jaw (micrognathia), a long space between the upper lip (philtrum) and the nose, a high-arched roof of the mouth (palate), low-set ears (occiput), and full lips. These features are usually small and may not be noticed at an early age.

How is it Diagnosed?

Healthcare professionals use a few of the following methods to diagnose Dup15q Syndrome:

  • Genetic testing can be used to identify if a child has the genetic mutation associated with Dup15q Syndrome
  • A physical examination and assessment of developmental milestones can help to rule out other conditions that may cause similar symptoms
  • Assessment of chromosome structure using a karyotype can help to identify if there is an extra copy of chromosome 15
  • Analysis of gene expression using microarrays can help to identify genes that are abnormally expressed in individuals with Dup15q Syndrome

Is Dup15q Syndrome Curable?

Currently, no cure for Dup15q Syndrome is available. However, there are treatments available that can help lessen the symptoms of the disorder. Some of these treatments include therapies for speech and language, physical therapy, occupational therapy, and educational interventions.

How is it Treated?

Some treatments can help improve the quality of life for those affected. Treatment options include medications such as growth hormones, seizure medications, and antidepressants.

Early intervention is important for those with Dup15q Syndrome. Some of the interventions that may be recommended include:

  • Physical therapy to help with muscle development and coordination
  • Speech therapy to help with communication skills
  • Occupational therapy to help with daily living skills
  • Behavioral therapy to help with social skills and managing anxiety or depression
  • Educational therapies to help with learning difficulties
  • Nutritional counseling to ensure a balanced diet

The signs and symptoms of Dup 15q Syndrome can vary greatly from one person to the next, and even from one day to the next for a single person. Most individuals with Dup 15q Syndrome require lifelong care and support. There is no single approach that will work for everyone with Dup15q Syndrome, and treatment should be tailored to the individual’s needs. With early diagnosis and intervention, people with Dup15q Syndrome can lead happy and fulfilling lives. Parents of children with Dup15q Syndrome should work closely with their doctors to develop a treatment plan that meets their child’s specific needs.

Learn more about Dup15q Syndrome

Life beyond the diagnosis

Dup 15q Syndrome is a rare condition and there’s no cure, but the available treatments can help greatly. If you think your child may have Dup15q syndrome, it’s important to work with their doctor to develop an appropriate treatment plan for them. We hope this article has helped give you some insight into what Dup15q Syndrome is all about and how parents of children with this disorder should proceed from here on out.