Clinical Research Projects

Effect of glycerol trierucate on clinical course of Adrenoleukodystrophy
Principal Investigator: Raymond, Gerald
Adrenoleukodystrophy is a disorder of very long chain fatty acids secondary to defects in peroxisomal beta oxidation. The accumulation of these fatty acids results in a disorder of the adrenal glands...
Compassionate usage of Lorenzo's Oil in peroxisomal disorders
Principal Investigator: Raymond, Gerald
Lorenzo's oil, a mixture of glyceryl trioleate and glyceryl trierucate, lowers very long chain fatty acids in X-linked adrenoleukodystrophy. There is preliminary data that lowering very long chain...
Virtual Sailing Simulator in Individuals with Spinal Cord Injury
Principal Investigator: Recio, Albert
The benefits of sport and recreational activities for the disabled are well recognized from the standpoint of health and quality of life. Yet there remains a lack of options for most disabled people...
Developmental Outcomes in Children with Unilateral and Mild/Moderate Hearing Loss
Principal Investigator: Reesman, Jennifer
The primary goal of the present study is to begin to develop a program of research to capture developmental outcomes in children with hearing loss, with a current focus on unilateral (UL) and mild/...
Validation of a Modified Signed Paired Associates Test for Deaf Children
Principal Investigator: Reesman, Jennifer
There are no published measures available that assess language related memory for children who communicate using American Sign Language (ASL). Most memory measures are created using spoken language,...
Cognitive, Behavioral, and Educational Outcomes in At-Risk Children with Hearing Loss
Principal Investigator: Reesman, Jennifer
Children with hearing loss are at increased risk for poor cognitive, behavioral and educational outcomes. The present study seeks to identify correlates of poor outcomes and identify predictors via a...
Utility of the Immediate and Post-Concussion Assessment and Cognitive Testing (ImPACT) test with Deaf and Hard-of-Hearing Adolescents
Principal Investigator: Reesman, Jennifer
The present research seeks to examine whether the ImPACT test provides an accessible means of assessment for adolescents who are deaf or hard-of-hearing, as this tool has not previously been...
Relation of Severity of injury with Testosterone profile & osteoporosis in spinal cord injured men
Principal Investigator: Sadowsky, Cristina
Hypothesis: Higher spinal cord injury neurologic level correlates with decreased testosterone level and increased prevalence of secondary osteoporosis.  Spinal cord injury is more common in...
Incidence of Osteoporosis in Patients with Chronic Spinal Cord Dysfunction
Principal Investigator: Sadowsky, Cristina
Research Question: Prevalence of osteoporosis in patients with traumatic and non-traumatic spinal cord injury. Secondary Question: Relationship between bone mass, injury level and grade (ASIA), total...
Patterned FES Ergometry of Arm and Shoulder in Individuals with Spinal Cord Injury
Principal Investigator: Sadowsky, Cristina
Recent evidence suggests that FES can improve certain functions in the Central Nervous System (CNS) following injury or disease; it can enhance motor recovery, change H reflex and flexor reflex...
Relation of HDL levels with home based Activity Based Restorative Therapies in spinal cord injured adults
Principal Investigator: Sadowsky, Cristina
Hypothesis: HDL levels increase following home based Activity Based Restorative Therapies (ABRT) The effect of exercise on lipid profile is well documented in the able bodied population. The effect...
FES Driven Stepping in Individuals with Spinal Cord Injury
Principal Investigator: Sadowsky, Cristina
Improving walking in individuals with Spinal Cord Injury (SCI) is a major current clinical and research goal. Gait training in SCI can be done with therapist-assisted over ground ambulation (with or...
Autoregulation in the intensive care unit and outcome after pediatric traumatic brain injury
Principal Investigator: Salorio, Cynthia
Traumatic brain injury (TBI) is a leading cause of death and disability in children. One of the goals of rehabilitation research is to identify factors that impact long term outcomes after injury....
Factors Associated with Cognitive Difficulty after Pediatric TBI
Principal Investigator: Salorio, Cynthia
Children with moderate to severe traumatic brain injury (TBI) are at risk for cognitive difficulties. Research shows that overall severity is associated with long-term cognitive status, with more...
Cognitive profiles in childhood epilepsy and the influence of identified risk factors
Principal Investigator: Salorio, Cynthia
Epilepsy is often associated with a host of neurobehavioral comorbidities, including cognitive, psychiatric, and social abnormalities. Such abnormalities contribute to difficulties across...
Expression of NGN3 in normal adult human pancreas
Principal Investigator: Shamblott, Michael
NGN3 is thought to be expressed only in the fetal pancreas. We have found strong nuclear expression of NGN3 in human pathological pancreas biopsies and in biopsies of "normal" tissue obtained during...
The Osteogenesis Imperfecta Registry
Principal Investigator: Shapiro, Jay
The development and operation of a national registry for individuals with osteogenesis imperfecta.
Longitudinal Study of Brittle Bone Disease
Principal Investigator: Shapiro, Jay
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the natural history, current therapeutic interventions, morbidity, and mortality in people with OI. The...
Neurodevelopmental Disabilities Diagnoses and Treatment
Principal Investigator: Shapiro, Bruce
We will undertake a retrospective review of clinical records to evaluate the range and features of various NDD diagnoses and stimulant safety and efficacy in the sickle cell disease population...
Distal Femur Bone Mineral Density Measurements in Healthy Individuals and Individuals with Acquired and Genetic Bone Disorders
Principal Investigator: Shapiro, Jay
Medical reports and our preliminary data indicate that DXA bone density measurements at the distal femur are sensitive indicators of the extent bone demineralization. Although data at this femur site...
The utilization and efficacy of physical therapy services for individuals with Osteogenesis Imperfecta.
Principal Investigator: Shapiro, Jay
This study is being performed to determine how physical therapy services are being used by individuals with Osteogenesis Imperfecta (OI) and the efficacy of these services for individuals with...
Factors Determining Failure to Respond to Treatment in Osteogenesis Imperfecta
Principal Investigator: Shapiro, Jay
Treatment with bisphosphonates is generally effective in increasing bone density and decreasing fracture rate in children with osteogenesis imperfecta. However, adults with osteogenesis imperfecta do...
The role of Mnbk in DS brain development and aging
Principal Investigator: Silverman, Wayne
 This collaborative study (headed by Jerzy Wegiel, D.V.D., Ph.D. of the New York State Institute for Basic Research in Developmental Disabilities) focuses on the role of overexpression of Mnbk/...
Changes in Functioning Among Adults with Mental Retardation
Principal Investigator: Silverman, Wayne
 The major objectives of this program of research are to: (1) study the basic biological mechanisms that underlie Alzheimer disease (AD), focusing explicitly on the adult population with Down...
Predicting Cognitive Decline in Adults with Down Syndrome
Principal Investigator: Silverman, Wayne
The object of this proposal is to predict cognitive decline in adults with Down syndrome (DS) and to ultimately provide a platform for early intervention to prevent the dementia associated with...
Exposure Therapy and Counterconditioning Intervention for Acute Pain Management during Venipuncture in Children with Chronic Conditions: A clinical case series
Principal Investigator: Slifer, Keith
Managing children’s distress during invasive medical procedures, including venipunctures, is challenging for health care providers. The venipuncture procedure is sometimes not well tolerated by...
Assessment of barriers to medication compliance in the HIV pediatric population: A clinic review of cases
Principal Investigator: Slifer, Keith
Children w/ chronic medical conditions & their families face many challenges in attempting to adhere to complex medical regimens. These challenges are particularly striking for children w/ HIV,...
Cystic Fibrosis and Behavioral Caregiver Training: A Clinic-Based Intervention
Principal Investigator: Slifer, Keith
The purpose of this pilot study is to examine the feasibility and potential benefits of a clinic-based collaborative behavioral and nutrition intervention that targets improvements in BMI percentile...
Psychological and Behavioral Intervention in Multidisciplinary Pediatric Acquired Brain Injury Rehabilitation
Principal Investigator: Slifer, Keith
Psychological and behavioral interventions are recognized as beneficial components of pediatric rehabilitation; however, there are few empirical studies evaluating a collaborative multidisciplinary...
Retrospective Review and Descriptive Analysis of Behavior Therapy Strategies to Teach Pill Swallowing to Children and Youth With and Without Developmental Disabilities
Principal Investigator: Slifer, Keith
Difficulty with pill swallowing is a commonly encountered barrier to medical regimen adherence faced by children and adolescents. Factors impacting a child’s ability to swallow pills include oral...
Clinical Assessment of Behavioral Adjustment in Pediatric Patients: A Preliminary Case Series Review
Principal Investigator: Slifer, Keith
In pediatric rehabilitation settings, behavioral consultants see patients with a wide range of medical conditions, mental health diagnoses, and presenting problems. The Pediatric Behavioral...
Descriptive and Clinical Analysis of Behavioral Services to Enhance Readiness for Transition to Adult Medical Care in Youth with Sickle Cell Disease
Principal Investigator: Slifer, Keith
From a health care systems perspective, one of the main challenges for adolescents with sickle cell disease (SCD) is transitioning from pediatric to adult care. Interdisciplinary transition programs...
Analysis of and Intervention for Behavioral and Psychological Adjustment and Coping After Pediatric Spinal Cord Injury
Principal Investigator: Slifer, Keith
Sustaining a spinal cord injury (SCI) is a life-altering event, both for youth and their families. Recent innovations in the treatment of pediatric SCI offer the potential for greater restoration of...
Standardization of the Wechsler Intelligence Scale for Children–Fifth Edition (WISC–V)
Principal Investigator: Slomine, Beth
The results of this study will be used to create an updated version of one of the most widely-used measures of intelligence for children. We will participate in this research with the test developer...
Neural Basis of Recovery of Inhibitory Control and Processing Speed After Pediatric TBI
Principal Investigator: Suskauer, Stacy
Inhibitory control is frequently impaired following pediatric traumatic brain injury (TBI), and deficits in inhibitory control impact a child’s function in school and at home and ultimately their...
Neural basis of impairments in response inhibition and processing speed following pediatric traumatic brain injury
Principal Investigator: Suskauer, Stacy
Impairments in response inhibition and processing speed developing after pediatric traumatic brain injury (TBI) are common and affect behavioral and academic outcomes. It remains unclear which brain...
Predictors of functional recovery and description of outcomes after pediatric brain injury
Principal Investigator: Suskauer, Stacy
Brain dysfunction in children can result from multiple causes, including trauma, hypoxia, diseases of the central nervous system, metabolic disorders, tumors, vascular abnormalities, and congenital...
Neural markers of concussion and recovery
Principal Investigator: Suskauer, Stacy
The goals of this study are to collect preliminary data on neural biomarkers with promise for identifying concussion and predicting and evaluating recovery from concussion in teenagers. We will...
Quantitative Sensory Testing in a Clinical Sample of Children with Concussion
Principal Investigator: Suskauer, Stacy
Concussion is a diffuse neurometabolic disturbance leading to symptoms in physical, cognitive, emotional and sleep domains. Clinical management of concussion is based on symptom report in conjunction...
Body Fluid Markers of Pediatric Traumatic Brain Injury
Principal Investigator: Suskauer, Stacy
The goal of this study is to identify whether blood, urine, and CSF biomarkers are predictive of short-term (1 month) outcome after pediatric traumatic brain injury (TBI). We will obtain blood and...
Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Principal Investigator: Tierney, Elaine
This is not a new study, but rather a re-submission of a previously approved study for which IRB approval lapsed. The study is closed to enrollment, but will remain open so that we can 1) continue...
Data Analyses for the Establishment of The Nail Patella Syndrome (NPS) Behavioral Phenotype
Principal Investigator: Tierney, Elaine
Subjects will not be seen at KKI as part of this study. This study will analyze data collected as part of the previously approved and now closed RPN 00-06-03-05 (entitled, The Behavioral Phenotype of...
Guanfacine in the treatment of hyperactivity and implusiveness in children and adolescents with pervasive development disorders
Principal Investigator: Tierney, Elaine
This application is a request for transfer of this protocol from paper IRB to e-irb submission review: Previous Application Number (paper based submission): 01-04-06-04 Protocol Title: Guanfacine in...
Methylphenidate in the Treatment of Hyperactivity and Implusiveness in Children and Adolescents with Pervasive Developmental Disorders
Principal Investigator: Tierney, Elaine
This application is a request for transfer of this protocol from paper IRB to e-irb submission review: This trial has ended. No children will be enrolled or participate in a clinical trial. We...
The Frequency of Smith-Lemli-Opitz Syndrome (SLOS) in the Population with Autism
Principal Investigator: Tierney, Elaine
The investigators seek to examine specimens gathered by the Autism Genetic Resource Exchange (AGRE) from individuals with autism spectrum disorders (ASD) and their family members (when available),...
The Behavioral Phenotype of Smith-Lemli-Opitz-Syndrome and Other Sterol Disorders
Principal Investigator: Tierney, Elaine
The primary goals of this project are to 1) determine the cognitive, social, and communication abilities and to define the behavioral phenotype of a spectrum of genetically and biochemically well-...
A Study of Risperidone in Children, Adolescents and Young Adults with Autistic Disorder
Principal Investigator: Tierney, Elaine
This study seeks to reactivate the following protocols under one new RPN during the post-study analyses phase of these studies: 04-06-03, 99-04-06-02, 99-05-14-01, and 01-04-16-04. Due in part to...
Brief intensive therapy for children with cerebral palsy: outcomes of a clinical model
Principal Investigator: Trovato, Melissa
Does the function of children with cerebral palsy improve after a brief intensive course of therapy services involving daily physical and occupational therapy. Children's functional skills will be...
Glycogen Quantification using MRI
Principal Investigator: Van Zijl, Peter
The goal of this research is to develop and validate a novel MRI method for imaging glycogen contents of tissue. Glycogen is the main energy storage molecule of the body. Its non-invasive detection...
Quantitation of the BOLD Effect in Functional MRI
Principal Investigator: van Zijl, Peter
The ultimate goal of this project is to gain a complete quantitative understanding of the physiological, physical, and spatial aspects of the blood-oxygen-level-dependent (BOLD) functional MRI (fMRI...
Investigation of Emotional Attention and Memory in Children with Anxiety Disorders
Principal Investigator: Vasa, Roma
This study examines emotional attention and memory in children with anxiety disorders. The data from this study will be compared to data on similar cognitive processes in control children (being...
Investigation of Emotional Attention and Memory in Healthy Children
Principal Investigator: Vasa, Roma
This study is collecting data on emotional attention and memory in psychiatrically healthy children. The data from this study will be compared to data on similar cognitive processes in anxious...
Investigating Patterns of Emergency Department Use in Individuals with Autism Spectrum Disorder
Principal Investigator: Vasa, Roma
This protocol requires permission to utilize a de-identified research dataset: the Nationwide Emergency Department Sample (NEDS). Access to these data will advance the understanding of autism...
Psychiatric, Behavior, and Cognitive Profiles in Children with Autism Spectrum Disorder
Principal Investigator: Vasa, Roma
This protocol requests permission to have access to a de-identified research dataset that was collected by the Simons Foundation, a private foundation in New York that focuses on advancing research...
Gene Expression and Genetic Mental Retardation (MR)
Principal Investigator: Vaurio, Rebecca
This project investigates the patterns of gene expression, and associated molecular events, in a sample of boys with genetic mental retardation (MR). We intend to identify profiles of gene expression...