Category: Articles/In the News
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway – PubMed
Overgrowth intellectual disability syndromes (OGIDs) caused by mutations in the PI3K-AKT-MTOR pathway present significant neurobehavioral challenges. While PTEN Hamartoma Tumor Syndrome (PHTS) has been behaviorally characterized, Smith-Kingsmore Syndrome (SKS) has...
Syndrome of the Month: Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature – PubMed
Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep-wake abnormalities, hyperphagia, and overgrowth.
GeneReview: Smith-Kingsmore Syndrome – PubMed
Smith-Kingsmore syndrome (SKS) is characterized by varying degrees of overgrowth, developmental delay / intellectual disability, neurodevelopmental issues (autistic features, ADHD), and congenital anomalies. Developmental delay typically involves all aspects of...
Natural History Study
UPDATE: Study is closed to new participants. Original update: The UCLA Department of Human Genetics is now completing the data gathering phase of a genetic study on individuals with overgrowth conditions,...
Inaugural Family Conference!
Researchers and clinicians met with our families at Cincinnati Children’s Hospital Medical Center to study the condition. For more information on this conference and for links to the presentations, check...
CCHMC Medical History Study
Cincinnati Children’s Hospital Medical Center (CCHMC) is working on a Medical History Study. If you are interested in participating, please email Lindsey Aschbacher-Smith at CCHMC for more information. Email CCHMC
Awareness Day
August 15, 2020, marked our first-ever Smith-Kingsmore Syndrome Awareness Day. Friends and families joined in a day to remember our blessings and bring attention to our struggles. We were reminded...
Funding for Research
In just 5 weeks, together we raised $59,000, enough to fund a postdoctoral researcher for one year. Thank you!! Read more about the groundbreaking SKS research we are supporting. ...
SCRI Brain Research
Dr. Mirzaa at Seattle Children’s Research Institute (SCRI) is currently enrolling individuals with SKS who have had an MRI. The goal of this research is to understand the causes, mechanisms and...
CoRDS Cast: Episode 28
We were thrilled to participate on this month’s episode of “CoRDS Cast,” a podcast highlighting a different rare condition on each episode. Tune in to hear Dr. Carlos Prada (Cincinnati...
- 1
- 2