Living with Autism spectrum disorder due to AUTS2 deficiency
A genetic condition with developmental delay, autism spectrum features, and distinctive physical features, often with a friendly personality.
Understanding Autism spectrum disorder due to AUTS2 deficiency
People can have borderline to severe intellectual disability, repetitive behaviors, hyperactivity, and often a friendly and affable personality. Other features include feeding difficulties, short stature, low muscle tone, a small head, and distinctive facial features. Spine curves, hernias, heart differences, and seizures can also occur. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development and intellectual disability
- Autism spectrum behaviors
- Delayed speech and language
- Low muscle tone
- Feeding difficulties in infancy
- Small head (microcephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in AUTS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the AUTS2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: asd due to auts2 deficiency; auts2 syndrome; intellectual developmental disorder, autosomal dominant 26; intellectual disability type 26
Patient organizations
- Simons SearchlightAutism spectrum disorder due to AUTS2 deficiency · United States
- Organization for Autism ResearchAutism spectrum disorder due to AUTS2 deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Autism spectrum disorder due to AUTS2 deficiency.
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