Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder

Area of Science:

• Neurology
• Pediatrics
• Medical Imaging

Background:

• Down syndrome (DS) is a genetic disorder associated with various health complications.
• Down Syndrome Regression Disorder (DSRD) is a severe subtype characterized by regression of acquired skills.
• Cerebral blood flow velocity (CBFV) is a key indicator of cerebrovascular health.

Purpose of the Study:

• To investigate differences in CBFV within the middle cerebral artery (MCA) and internal carotid artery (ICA) between individuals with DS and those with DSRD.
• To explore potential links between CBFV alterations and DSRD.
• To assess cerebral autoregulation in individuals with DSRD.

Main Methods:

• A prospective observational study involving 104 participants (60 with DSRD, 44 with DS only).
• Transcranial Doppler (TCD) ultrasound was used to measure CBFV in the MCA and ICA.
• Participants were recruited in a 1:1 ratio and TCD studies followed a standardized pediatric protocol.

Main Results:

• Individuals with DSRD exhibited significantly lower average CBFV in the MCA and ICA compared to individuals with DS only.
• These reductions were more pronounced in the left MCA and left ICA.
• In DSRD patients, higher heart rate correlated with decreased MCA values, suggesting altered autoregulation.

Conclusions:

• The study identified significant alterations in CBFV, specifically reductions in MCA and ICA velocities, in individuals with DSRD compared to DS alone.
• These findings indicate potentially disrupted cerebral autoregulation in DSRD.
• Catatonia may be a contributing factor to these observed CBFV changes in DSRD.