Spotlight

Rose F. Kennedy Intellectual and Developmental Disabilities Research Center

Human Clinical Phenotyping (HCP) Core

AB Core Director: Dr. Sophie Molholm
AB Core Assistant Director: Dr. Melissa Wasserstein
AB Core Assistant Director: Dr. Michael Lipton

Objectives

The overarching mission of the Human Clinical Phenotyping Core (HCP) is to support innovative human-based IDD work at the Albert Einstein College of Medicine/Montefiore Medical Center and to through this work, better understand, effectively treat, and to ultimately – when possible – prevent intellectual and developmental disabilities (IDDs) in children. The HCP serves as the bridge between basic researchers and clinical partners, facilitating human projects on a range of topics and populations (e.g., individuals with lysosomal storage diseases; individuals with Rett syndrome, etc.). The HCP has been highly successful in establishing research partnerships and supporting IDD investigators since its inception and ensures maximal responsivity to the evolving needs of the IDD research community at Einstein/Montefiore by being innovative and forward-looking Specifically, the HCP:

  • Provides sophisticated phenotyping of participants for RFK-IDDRC investigators, including evaluations of cognition, language, behavior and clinical diagnosis, all performed by our highly qualified clinicians; Facilitates diversity in research by recruiting from the local Bronx community. The HCP works to develop novel phenotyping tools in areas where strong metrics are lacking;
  • Maintains an extensive research-participant database (currently containing 2000-plus children and adults) to service important IDD research endeavors; Serves as the coordinating hub of the three IDDRC cores that collect human data; indexing when genetic samples are collected by the Neurogenomics Core and when neuroimaging data are collected by the Neural Cell Engineering & Imaging Core (NCEI);
  • Develops cutting-edge measures of IDD-relevant phenotypes, such as repetitive movement and multisensory processing; and
  • Provides turnkey access to state-of-the-art imaging facilities at Gruss Magnetic Resonance Research Center (MRRC). MRRC staff is highly experienced in child neuroimaging. Dr. Lipton, in his leadership role at HCP and as Associate Director of the GRUSS imaging center, is available to advise investigators on the optimal deployment of data acquisition and analysis methods for their human research, as well as on potential for use of previously acquired images in new studies.
 

Resources/Services

>Recruitment: The HCP recruits participant populations through a number of means including: 1) the existing database; 2) newspaper advertisements; 3) Einstein and Montefiore clinical services (e.g., the Rett clinic at Montefiore and speech and language therapists at the CERC); 4) online list-serves, parent groups, local chapters of advocacy organizations (e.g., Autism Speaks), and special interest websites; and, 5) participation in community health fairs.

Scheduling participants for research: The HCP is available to schedule participants for research - this service involves coordinating with IDDRC investigators and/or their staff, scheduling the participants in available timeslots, and confirming the appointment prior to the scheduled visit.

Phenotyping: Each child enrolled for participation in an investigator-initiated study is carefully phenotyped through a comprehensive battery of basic tests. The standard protocol includes neuropsychological tests of cognitive abilities and language function, sensory processing, adaptive functioning, and diagnostic tests as applicable. Additional measures are obtained through interviews with the parent/legal guardian, family pedigree charting to probe for familial occurrence of IDDs and neuropsychiatric disorders, taking photographs and video of the child, and basic vision and hearing screens. Further clinical assessments are administered as necessary for the specific project for which they are recruited/contacted. Saliva samples are collected from willing participants and their families, processed for DNA then stored in the Einstein Biorepository.

Audiometric testing: To thoroughly assess auditory function and the integrity of the auditory system, children may undergo comprehensive hearing assessment using a battery of test developmentally appropriate measures (for the child's age and function). Assessment procedures are determined based on the needs of the particular study. An ASHA certified audiologist administers and interprets test results.

Eye tracking: The Core has EyeLink 1000 eye-trackers available for use in eye-tracking studies. These can determine eye position at a sampling rate of up to 2000Hz with a resolution of up to 0.01° of visual angle. They can be used either with a headrest in “Head Supported” mode, or without a chin rest in “Head Free” mode. The expert staff at the adjacent Cognitive Neurophysiology Laboratory can consult with investigators on optimal use of this technology to address questions pertaining to their program of research and to assist with data acquisition and has expertise in interfacing the system with Presentation (stimulus presentation and response acquisition software), EEG recording systems, and gaze-gated stimulation paradigms.

Below is a sample of commonly utilized Clinical Instruments used by the HCP Core:

Collection of biosamples for genetic analysis: All HCP personnel are trained to collect saliva samples using Genotek Oragene DNA collection kits and take buccal swabs, and a phlebotomist is available for blood collection. After collection of samples is recorded in the database, the specimens are delivered to the Neurogenomics Core (situated in the Price building next door to the HCP) and processed for storage in the Einstein Biorepository Core (also across the street, in Forchheimer). For example, for one project the Core is collecting bloods (as well as recruitming and clinically phenotyping) for a study on autism in African Americans. Even when collection is not investigator initiated, as a matter of policy the Core collects saliva samples, performs initial processing of the samples, and stores them at the Einstein Biorepository Core. Thus as new genetic pathways of disease are suggested in the literature, a substantial database of genetic materials that are allied with comprehensive phenotyping will be available to IDDRC investigators. There are currently over 200 samples allied to clinical phenotyping and measures of brain function (EEG and fMRI) and anatomy. These are being used to explore, e.g., the role of common genetic variants associated with IDDs (e.g., CACNA1C and CNTNAP2) on brain function (Abrahams and Molholm).

Database: In support of an expansion of the HCP, we have developed a central database that is implemented with REDCap. The database incorporates different access levels and is compliant with HIPAA privacy rules. To promote resource sharing across individual translational research projects, de-identified portions of the database are accessible to investigators through a searchable web-based interface. A login and password are acquired for access, to permit validation of IDDRC membership (or grant access to non-IDDRC investigators). Investigators searching the database do not have access to patient identification information. Specific populations may be queried for diagnostic features (e.g. autism, ADHD, high-risk psychosis, etc.) as well as a number of other variables that delimit the population of interest (e.g., age, sex, age of parents at birth, etc.). See Human Subjects section for more information. In addition, the HCP coordinates with the Neurogenomics Core and the Gruss Magnetic Resonance Research Center for Imaging to index data collected from HCP participants. The Core coordinates with investigators to maintain compliance with NIH data registries (e.g., National Database for Autism Research: NDAR).

 

HCP Core Fee Schedule

Table B5. Example Service Rates
Type of service IDDRC rate Non-IDDRC rate Performed elsewhere
ADOS, ADI, and neuropsychological testing (IQ and language) $1,400 $3,000 $4,500 (NYU Child Study Center)
ADOS & ADI $800 $1,600 $2,225(NYU Child Study Center)
Battery of Neuropsychological tests $750 $1,500 $3,000
MRI use per hour $465 $525 -
buccal swabs, saliva, or blood for DNA $35-$70 $125-$150 -
 

Who to Contact

General Core Information
Sophie Molholm, Ph.D.
718.862.1823
sophie.molholm@einstein.yu.edu  

IMAGING
Michael L. Lipton, M.D., Ph.D.
718.430.3390
michael.lipton@einstein.yu.edu 

 
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