Living with Developmental delay with autism spectrum disorder and gait instability
A rare genetic condition with developmental delay, autism-spectrum features, limited language, and an unsteady, broad-based walk.
Understanding Developmental delay with autism spectrum disorder and gait instability
It includes low muscle tone and feeding difficulties in infancy, global developmental delay, and mild to moderate intellectual disability. Walking starts late and is broad-based, with arms held up and bent at the elbow. Language is limited. Behavior ranges from sociable and affectionate to autistic.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed walking
- Unsteady walk
- Delayed speech and language
- Autistic behavior
- Intellectual disability
- Self-injury
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 HERC2 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 Organization for Autism Research
- 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
Changes in the HERC2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: developmental delay with asd and gait instability; intellectual developmental disorder, autosomal recessive 38; intellectual disability, autosomal recessive type 38
Patient organizations
- Organization for Autism ResearchDevelopmental delay with autism spectrum disorder and gait instability · United States
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Perspectives from people navigating life with Developmental delay with autism spectrum disorder and gait instability.
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