developmental delay with autism spectrum disorder and gait instability

Developmental delay with autism spectrum disorder and gait instability is a rare genetic neurological condition that primarily affects early childhood development. Affected children typically display delays in overall development, including difficulties with walking, language, and intellectual skills. The condition is linked to pathogenic variants in the HERC2 gene and is inherited in an autosomal recessive pattern, meaning that two copies of the altered gene are required for manifestation. It is very rare, affecting fewer than 1 in 1,000,000 people. Early diagnosis along with supportive and multidisciplinary interventions can help address the developmental challenges associated with the condition.

Individuals with this condition commonly present with notable global developmental delays, including delayed speech and language development and late acquisition of independent walking. Early signs often include infant hypotonia and feeding difficulties, while motor challenges become evident with a broad-based, unsteady gait characterized by arms held in a flexed position during brisk walking or running. Cognitive challenges manifest as mild to moderate intellectual disability, and autistic behaviors are frequently observed, with some children displaying a sociable and affectionate demeanor and others showing more pronounced autistic traits. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by pathogenic variants in the HERC2 gene, which plays an important role in neural development and cellular processes. It is inherited in an autosomal recessive manner, meaning that an affected individual receives one altered copy of the gene from each parent. This condition is more common when parents share a common ancestor, as the likelihood of both carrying the same rare variant increases. Genetic counseling is recommended to help families understand the inheritance implications and discuss recurrence risks in future pregnancies.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. Typically, treatment is tailored to the individual and involves a multidisciplinary team, including physical, occupational, and speech therapists to address motor and communication challenges. Genetic counseling is an important part of care to help families understand the autosomal recessive inheritance pattern and plan for the future. Patients should discuss treatment options with their healthcare team to determine which supportive interventions are most appropriate for their situation.

The condition is lifelong and is characterized by developmental challenges that evolve over time. Outcomes vary widely between individuals, and not all affected individuals experience every feature to the same degree. With current standards of care and early supportive interventions, many individuals experience improvements in functional skills, while ongoing research and evolving treatment practices continue to shape long-term outcomes. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists for guidance and support.