Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

Study Description:

Brain hypometabolism has been observed in neurologic conditions. These data were obtained using modalities that involved radiation exposure and were not easily amenable to being combined with performance of functional tasks. Functional near-infrared spectroscopy (fNIRS) and Diffusion Correlation Spectroscopy (DCS) are noninvasive, easy-to-use, and portable brain imaging technology that enable studies of metabolic parameters and their alterations with task performance in neurotypical and neurocognitively affected individuals. Specifically, it enables the study of brain oxygen utilization which likely correlates with brain metabolism. We are proposing a pilot study of the use of fNIRS and DCS in neurocognitive disorders that have been extensively followed in our groups: Niemann-Pick disease type C1 (NPC1), creatine transporter deficiency (CTD), Smith Lemli Opitz syndrome (SLOS), Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), and Phelan-McDermid (PMS) syndrome. We want to compare findings in these populations to neurotypical healthy controls.

Objectives:

The primary objective of this pilot study is to determine the feasibility of fNIRS-DCS in individuals with neurocognitive-related disorders.

The secondary objectives of this study are:

• To collect pilot data on individuals with neurocognitive disorders to determine the patterns of cerebral oxygen consumption as measured by fNIRS and DCS.
• To compare cerebral oxygen consumption changes from resting state in affected individuals versus age-appropriate healthy volunteers.

An exploratory objective is to correlate cerebral oxygen consumption changes from resting state in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease-specific severity rating scales). Another exploratory objective is to examine test-retest reliability of our fNIRS-DCS measures at rest and during specific tasks in both affected individuals and healthy controls.

Endpoints:

Primary endpoints:

Adverse events, number of individuals who complete study

Secondary endpoints:

Patterns of cerebral oxygen consumption and blood flow in neurocognitive disorders compared to healthy controls.

• INCLUSION CRITERIA:
• For both study populations (Affected and Typically Developing group):

• Male or female, aged 6 months and up
• English is the primary language spoken at home
• For study population (Affected group):

--Neurocognitive-related conditions including SLOS, CLN3, CTD, NPC and PMS.

• For controls (Typically Developing Group):

• In good general health as determined by medical history and physical exam

Exclusion criteria

• For both study populations (Affected and Typically Developing group):

• Any condition that may affect placement of the fNIRS-DCS
• Past or present vascular disease
• Traumatic loss of consciousness in the last year
• Any condition which, in the opinion of the investigator, increases risk of participation or affects adherence to the protocol
• For controls (Typically Developing Group):

• Known or suspected cognitive impairment
• Known history of MRI abnormality
• Current use of psychotropic medications