Overview
Developmental delay with autism spectrum disorder and gait instability is a rare genetic condition that affects brain development and function. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. They also display features of autism spectrum disorder, which can include difficulty with social interactions, communication challenges, repetitive behaviors, and restricted interests. A key feature of this condition is gait instability, meaning affected individuals have trouble with balance and coordination when walking, which can range from mild unsteadiness to more significant difficulty with movement. This condition is caused by changes (mutations) in specific genes that play important roles in how the brain develops and how nerve cells communicate with each other. Because the brain is affected in multiple ways, children may also experience intellectual disability, speech and language delays, and behavioral challenges. Some individuals may have seizures or other neurological symptoms. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through a combination of therapies. These may include speech therapy, occupational therapy, physical therapy, behavioral therapy (such as applied behavior analysis for autism-related symptoms), and special education services. Medications may be used to manage specific symptoms like seizures, anxiety, or behavioral difficulties. Early intervention and a coordinated care team can help affected individuals reach their fullest potential.
Also known as:
Key symptoms:
Delayed developmental milestonesDifficulty with social interactionsProblems with communication and languageRepetitive behaviors or restricted interestsUnsteady walking or balance problemsIntellectual disabilitySpeech and language delaysPoor coordinationBehavioral challenges such as tantrums or aggressionDifficulty with fine motor skills like writing or buttoning clothesSeizures in some individualsAttention difficultiesAnxiety or mood changesSensory sensitivities such as to sounds, textures, or lights
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 Developmental delay with autism spectrum disorder and gait instability.
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Specialists
View all specialists →No specialists are currently listed for Developmental delay with autism spectrum disorder and gait instability.
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 Developmental delay with autism spectrum disorder and gait instability.
Community
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3 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 is causing my child's condition, and what does it mean for their future?,What therapies should we start right away, and how often should they occur?,Are there any clinical trials or research studies my child might be eligible for?,What should I watch for in terms of seizures or other new symptoms?,How can we best support my child's learning and development at school?,Are there any medications that could help with specific symptoms like behavior or balance?,Should other family members be tested for this genetic change?
Common questions about Developmental delay with autism spectrum disorder and gait instability
What is Developmental delay with autism spectrum disorder and gait instability?
Developmental delay with autism spectrum disorder and gait instability is a rare genetic condition that affects brain development and function. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. They also display features of autism spectrum disorder, which can include difficulty with social interactions, communication challenges, repetitive behaviors, and restricted interests. A key feature of this condition is gait instability, meaning affected individuals have trouble with balance and coordination when walking, which
How is Developmental delay with autism spectrum disorder and gait instability inherited?
Developmental delay with autism spectrum disorder and gait instability follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Developmental delay with autism spectrum disorder and gait instability typically begin?
Typical onset of Developmental delay with autism spectrum disorder and gait instability is infantile. Age of onset can vary across affected individuals.