AUTS2-Related Syndrome

AUTS2-related syndrome happens when there are changes in the AUTS2 gene. These changes can keep the gene from working as it should.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

The risk of having another child who has AUTS2-related syndrome depends on the genes of both biological parents. 

• If neither biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant. 
• If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent. 

For a symptom-free brother or sister of someone who has AUTS2-related syndrome, the sibling’s risk of having a child who has AUTS2-related syndrome depends on the sibling’s genes and their parents’ genes. 

• If neither parent has the same genetic variant causing AUTS2-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit AUTS2-related syndrome. 
• If one biological parent has the same genetic variant causing AUTS2-related syndrome, the symptom-free sibling has a 50 percent chance of also having the same genetic variant. If the symptom-free sibling has the same genetic variant, their chance of having a child who has the genetic variant is 50 percent. 

For a person who has AUTS2-related syndrome, the risk of having a child who has the syndrome is about 50 percent.

As of 2024, at least 112 people with AUTS2-related syndrome have been identified in a medical clinic. The first case of AUTS2- related syndrome was described in 2007.

People who have AUTS2-related syndrome may look different. Appearance can vary and can include some but not all of these features:

• Smaller than average head size
• Smaller than average height
• Arched eyebrows
• Wide-set eyes
• Eyelids that droop
• Small and narrow mouth

Scientists and doctors have only just begun to study AUTS2-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

• Physical exams and brain studies
• Genetics consults
• Developmental and behavior studies
• Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

• Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
• Guide individualized education plans (IEPs).

Specialists advise that therapies for AUTS2-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

Speech and Learning

Most people with AUTS2-related syndrome had developmental delay or intellectual disability and speech delay.

• 64 out of 66 people had developmental delay or intellectual disability (97 percent)

Behavior

Many people with AUTS2-related syndrome had autism or features of autism, attention deficit hyperactivity disorder, or ADHD, and sound sensitivity.

• 16 out of 40 people had autism or features of autism (40 percent)
• 17 out of 28 people had ADHD (61 percent)
• 28 out of 56 people had sensitivity to sound (50 percent)

Mobility

People who have AUTS2-related syndrome had movement issues and lower than average muscle tone. Movement issues included cerebral palsy, spasticity, and high muscle tone.

• 20 out of 57 people had a movement disorder (35 percent)
• 23 out of 60 people had low muscle tone (38 percent)

Feeding and digestion

People who have AUTS2-related syndrome had feeding difficulties.

• 33 out of 55 people had a feeding difficulties (60 percent)

Growth

Some people who have AUTS2-related syndrome were smaller than average in height. Many people had a smaller than average head size. Some infants had low birth weight.

• 26 out of 59 people had shorter than average height (44 percent)

Other features

Some people had curvature of the spine called scoliosis or forward rounding of the upper back called kyphosis. Others had tightness of the heel cords, and a few babies were born with umbilical hernias.