Mom Shares Fragile X Story to Encourage Researchers

Robin and Sam Blackwood

Mom Shares Fragile X Story to Encourage Researchers

The first sign of trouble was when Robin Blackwood’s baby boy didn’t want to play peek-a-boo or pattycake, even after his first birthday.

“He wasn’t really communicating or trying to imitate. That’s when we started realizing something was up and wanted to try to get some answers.”

She’s telling Sam’s story to an audience of doctors and researchers at the Medical University of South Carolina during the South Carolina Autism and Neurodevelopmental Disorders Consortium’s research symposium. It’s a chance for them to hear from one of the people their work is aimed at helping.

Testing showed Sam has fragile X syndrome, caused by a genetic mutation. “My husband and I researched and really have spent the last 8 years trying to understand what fragile X is, what it would mean to Sam, what the symptoms are,” Blackwood says of the incurable condition.

“We know learning disability is the prominent one, but also autism is highly likely. Anxiety, ADHD, sensory processing disorder. Sam has all of these issues.”

Read more.


Fragile X chromosome illustration

Fragile X Day is July 22!

Don’t forget! July is Fragile X Awareness Month, and July 22 is National Fragile X Awareness Day. Follow us on Facebook for special updates throughout the month!


UofSC mascot Cocky in Chicago

The NDD Lab Goes to the Windy City!

We’re excited to be conducting a special study with collaborators at Loyola University in Chicago to learn more about brain development in infants and children with fragile X syndrome! The ultimate goal of this study is to enable early detection and promote targeted early intervention services so children with fragile X syndrome can learn to their full potential.

We are currently recruiting families in the Chicago area with children & infants 8 years old or younger who have been diagnosed with fragile X syndrome or the FMR1 premutation. The assessments will take place in the Chicago area.

For more information, click here!

We’d love to talk with you about this opportunity! Please contact us by email or by phone at (803) 777-5676 for more information or if you’re interested in participating.

One of our child participants wearing an EEG cap.

Libby Tillman and Bobbie Schermbeck at Discover USC 2019

Undergraduate Research Awards

We’re excited to announce that several of our undergraduate research assistants were awarded research grants for the upcoming summer and fall semesters!

Magellan Scholar Award:

  • Margaret Besse, Sensory Processing and Anxiety in Autism
  • Hannah Pressler, Biobehavioral Mechanisms of ADHD in Preschoolers with Fragile X Syndrome
  • Malorie Webb, Syndrome-Specific Attention Profiles in Infants with Fragile X Syndrome and Down Syndrome

Science Undergraduate Research Fellowships (SURF) Program:

  • Isabelle Robinson

Exploration Scholars Program:

  • Matt Caputo

Current and former members of the NDD Lab at the 2019 Gatlinburg Conference

2019 Gatlinburg Conference

The NDD Lab attended the 2019 Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities in San Antonio, Texas. This year’s theme was “Translational Research on Down Syndrome.”

Dr. Jane Roberts is a member of the Executive Committee for the conference, which was established in the 1960s as an annual scientific meeting designed to advance translational biobehavioral research on intellectual and developmental disabilities.

Dr. Abigail Hogan and Dr. Elizabeth Will chaired symposia on “Neurophysiological Indicators of ASD-Related Behavioral Phenotypes” and “Mechanisms and Functional Consequences of Motor Impairments across Down Syndrome, Fragile X, Autism, and Single Gene Mutations”, respectively. Doctoral students Jordan Ezell, Shannon O’Connor, Carla Wall, and Conner Black presented research posters.

We were delighted to run into several former team members at the conference, including Kelly Caravella White, Carly Moser, Sara Matherly, and Debra Reisinger.

For more information about the Gatlinburg conference, go to their website.


Dr. Jessica Klusek in her lab

Former NDD Lab Postdoctoral Fellow Receives Early Career Award

Dr. Jessica Klusek has received an Early Career R21 Award from the National Institute on Deafness and Other Communication Disorders. Dr. Klusek spent three years in the NDD Lab for a postdoctoral fellowship before joining the USC Communication Sciences and Disorders department as an assistant professor in 2016. Her research focuses on communication disorders associated with autism and fragile X syndrome.

She will use the three-year, $440K grant to advance her research on the FMR1 premutation, aiming to delineate the full range of oral and written language features associated with the FMR1 premutation as well as their interface with cognitive-executive aspects of the phenotype and FMR1 gene dysfunction. This will be the first systematic investigation of language abilities in premutation carrier mothers—examining aspects of written and oral language that differ from non-carrier mothers and mothers who have children with autism spectrum disorder.

“This research will refine our understanding of the full range of language phenotypes linked with FMR1 gene dysfunction,” she says. “It will also inform the development of identification and treatment efforts targeted towards the specific needs of mothers who carry the FMR1 premutation and their families.”

If you’re interested in participating in Dr. Klusek’s study, you can learn more at http://www.scfamilystudy.com.


NDD Lab Team at INSAR

Calling for Applications: Postdoctoral Fellowship Position at the NDD Lab

Dr. Jane Roberts and the Neurodevelopmental Disorders Lab at the University of South Carolina are pleased to announce the availability of one full-time NIH-funded postdoctoral fellowship position. The fellow will have the opportunity to participate in a variety of ongoing projects focused on early development in fragile X syndrome, autism, Down syndrome, and siblings of children with autism.

Specialized training in the following domains will be offered:

  • Advanced physiological methods (e.g., heart activity, EEG/ERP, salivary cortisol)
  • Autism diagnosis (e.g., ADOS-2 research reliability)
  • Professional development (e.g., design of new studies, manuscript preparation, student mentorship, grant preparation, and the transition to independence)

The fellow will be encouraged to submit their own application for external funding to a major federal agency or private foundation. Dr. Roberts’ postdoctoral fellows have a history of external funding success, particularly with NIH F32 and Loan Repayment Program (LRP) applications.

Applicants with expertise in neurodevelopmental disorders will be considered. Our group is multi-disciplinary and includes faculty, staff, and students with training in Communication Sciences and Disorders as well as Clinical, School, and Developmental Psychology. While this fellowship has a primary focus on research, there will be many clinical training opportunities, and clinical supervision can be provided by our team’s licensed child psychologist.

The start date is Fall 2019, with some flexibility as needed. This is a two-year position, with possibility of extension.

Please e-mail a CV and statement of interest to:
Jane E. Roberts, Ph.D.
Professor, Department of Psychology
Jane.Roberts@sc.edu


SCAND Planning Committee Members

The NDD Lab at the 2019 SCAND Research Symposium

Several members of the NDD Lab recently presented at the South Carolina Autism and Neurodevelopmental Disorders (SCAND) Symposium at the Medical University of South Carolina (MUSC) in Charleston, SC. The SCAND Consortium is a network of scientists in various fields who are united by their mission to understand neurodevelopmental disorders and to provide support for families affected by this disorder throughout the state of South Carolina.

Current research specialists Ramsey Coyle, Chandler Knott, and Kayla Smith and former research specialist Carly Moser presented posters at the symposium. Dr. Abigail Hogan presented a session on “Biobehavioral Indices of Anxiety in Autism and Fragile X Syndrome in Young Children” and Dr. Jane Roberts moderated a session on “From Bedside to Bench: Parental, Experimental and Treatment Perspectives for Anxiety in Neurodevelopmental Disorders.”


Dr. Elizabeth Will

Dr. Will Awarded NIH Postdoctoral Fellowship Grant

Dr. Elizabeth Will was awarded a Ruth L. Kirschstein National Research Service Award (F32) by the National Institute of Child Health and Development (NICHD) to support her research on early features of autism spectrum disorder (ASD) in Down syndrome.

The purpose of this prestigious award is to provide postdoctoral research training to promising early career scientists to broaden their scientific background and enhance their potential for conducting high-impact research.

Despite being a leading genetic cause of ASD, Down syndrome has been remarkably overlooked in efforts to identify early ASD risk features. Dr. Will’s study will aim to clarify the ASD-risk profile in Down syndrome, its bio-behavioral indicators during early development, and the extent of phenotypic overlap with other high-risk groups.

Recruitment for this study is currently underway. Dr. Will is currently recruiting:

  • Infants (14 months & younger) with Down syndrome
  • Children (36 months & younger) with Down syndrome

Please contact Dr. Will at willea@mailbox.sc.edu for more information or if you’re interested in participating in this study.


Down Syndrome Grants Funded by National Institutes of Health

Dr. Jane Roberts was recently awarded a supplemental grant to expand the NDD Lab’s current research efforts to include Down syndrome. These grant will build upon the lab’s longitudinal studies on the emergence and stability of autism spectrum disorder (ASD) and anxiety in fragile X syndrome. The grant will allow us to learn more the early indicators of ASD in infants with Down syndrome and the diagnosis of ASD and anxiety in preschoolers with Down syndrome. We are so excited to be actively recruiting infants and preschoolers with Down syndrome!

Click here to learn more about our research!


Recent Posts

Bridgette Kelleher with materials from the PANDABox

Research Round-Up #7

Children running

Research Round-Up #6

Zoom screenshot of the NDD Lab virtual holiday party
child playing with colorful toys

Research Round-Up #5

woman and child looking at an iPad

Research Round-Up #4

Learn how you can take part in our research