A draft conceptual model of SLC6A1 neurodevelopmental disorder

Area of Science:

• Genetics and rare diseases
• Neurodevelopmental disorders
• GABA transporter function

Background:

• SLC6A1 Neurodevelopmental Disorder (SLC6A1-NDD) is a rare genetic syndrome linked to the SLC6A1 gene, encoding the GABA Transporter 1 (GAT-1) protein.
• Epilepsy is a common symptom, but the full spectrum of SLC6A1-NDD and its impact on patients and families is not well-defined.

Purpose of the Study:

• To explore the lived experiences of individuals with SLC6A1-NDD and their caregivers.
• To identify the range of symptoms and concerns associated with SLC6A1-NDD.
• To compare findings from literature review with real-world patient and family experiences.

Main Methods:

• Conducted a literature search for "SLC6A1" focusing on human neurodevelopmental disorder.
• Performed open-ended interviews with two patient advocate key opinion leaders.
• Analyzed de-identified social media conversations among families affected by SLC6A1-NDD.

Main Results:

• Literature identified symptoms across neurological, visual, motor, cognitive, communication, behavioral, gastrointestinal, sleep, musculoskeletal, and emotional domains, in addition to epilepsy.
• Key opinion leaders reported infant altered hand use and developmental regression with epilepsy onset.
• Social media analysis confirmed epilepsy and autistic traits as primary concerns, but also highlighted the significant impact of other symptoms on family life.

Conclusions:

• Published literature may not fully capture the comprehensive lived experience of SLC6A1-NDD.
• Patient and family conversations reveal a broader range of impactful symptoms than typically reported.
• A formal qualitative interview-based disease concept study is warranted to better understand SLC6A1-NDD.