Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder

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SLC6A1-Related Neurodevelopmental Disorder (SLC6A1-NDD) Clinical Trial Readiness Study

Overview

• SLC6A1-NDD is a rare genetic disorder linked to autism spectrum disorder, epilepsy, and developmental delay.
• Understanding the impact on patients and families is crucial for future clinical trials.

Quality-of-Life (QoL) Measures

• QoL measures capture the overall disease experience of patients.
• This study presents QoL findings from the SLC6A1-NDD clinical trial readiness study and Simons Searchlight SLC6A1-NDD registry.

Findings

• QoL data from participants with SLC6A1-NDD showed the mean scores for QI Disability, QOLCE-55, and PedsQL-FIM.
• Longitudinal QoL scores for a subset of participants demonstrated a reduction in the Family Relationship domain of PedsQL-FIM.

Conclusions

• Findings suggest that certain scores could be clinically significant and may need further validation.

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Full Clinical Trial Report Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder: https://pubmed.ncbi.nlm.nih.gov/38663152/?utm_source=Feedly&utm_medium=rss&utm_campaign=None&utm_content=1B1L42DK3a-JWCV4P_PtHHBmWjwBLFNcDXsYJkbqjQD0Ca7UQh&fc=None&ff=20240426043029&v=2.18.0.post9+e462414