Overview
Autism spectrum disorder due to AUTS2 deficiency is a rare genetic condition caused by changes (mutations or deletions) in the AUTS2 gene, which plays an important role in brain development. This condition is sometimes called AUTS2 syndrome or AUTS2 deficiency syndrome. It affects how the brain grows and functions, leading to a range of developmental and behavioral challenges. Children with this condition typically show signs of autism spectrum disorder, which means they may have difficulty with social communication, repetitive behaviors, and restricted interests. In addition, many affected individuals experience intellectual disability that can range from mild to moderate, delayed speech and language development, and delays in reaching motor milestones like sitting and walking. Some children also have distinctive facial features, feeding difficulties in infancy, and a smaller-than-average head size (microcephaly). Growth may also be affected, with some children being shorter than expected for their age. There is currently no cure for AUTS2 deficiency. Treatment focuses on managing symptoms and supporting development through early intervention programs, speech therapy, occupational therapy, behavioral therapy, and special education services. Some individuals may benefit from medications to manage specific behavioral symptoms such as anxiety, attention difficulties, or irritability. With appropriate support, many individuals can make meaningful developmental progress, though the degree of improvement varies from person to person.
Also known as:
Key symptoms:
Autism spectrum behaviors such as difficulty with social interactionIntellectual disability (mild to moderate)Delayed speech and language developmentDelayed motor milestones like sitting and walkingSmaller-than-average head size (microcephaly)Short stature or growth delaysFeeding difficulties in infancyLow muscle tone (feeling floppy)Attention difficulties or hyperactivityRepetitive behaviors or restricted interestsDistinctive facial features such as a narrow face or prominent foreheadAnxiety or emotional regulation difficultiesLearning difficultiesSeizures in some individuals
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autism spectrum disorder due to AUTS2 deficiency.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autism spectrum disorder due to AUTS2 deficiency.
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2 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic change was found in my child's AUTS2 gene, and what does it mean for their development?,What therapies should we start right away, and how often should they occur?,Are there any medications that might help with my child's specific symptoms?,Should my child be monitored for seizures or other medical complications?,What educational supports and accommodations should we request at school?,Is there a risk that future children could also have this condition, and should we see a genetic counselor?,Are there any clinical trials or research studies we should know about?
Common questions about Autism spectrum disorder due to AUTS2 deficiency
What is Autism spectrum disorder due to AUTS2 deficiency?
Autism spectrum disorder due to AUTS2 deficiency is a rare genetic condition caused by changes (mutations or deletions) in the AUTS2 gene, which plays an important role in brain development. This condition is sometimes called AUTS2 syndrome or AUTS2 deficiency syndrome. It affects how the brain grows and functions, leading to a range of developmental and behavioral challenges. Children with this condition typically show signs of autism spectrum disorder, which means they may have difficulty with social communication, repetitive behaviors, and restricted interests. In addition, many affected i
How is Autism spectrum disorder due to AUTS2 deficiency inherited?
Autism spectrum disorder due to AUTS2 deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autism spectrum disorder due to AUTS2 deficiency typically begin?
Typical onset of Autism spectrum disorder due to AUTS2 deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Autism spectrum disorder due to AUTS2 deficiency?
2 specialists and care centers treating Autism spectrum disorder due to AUTS2 deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.