In addition to cognitive impairments, neurodevelopmental disorders often result in sensory processing deficits. However, the biological mechanisms that underlie impaired sensory processing SYNGAP1-NSID is thought to result from limited functional levels of SynGAP protein, a protein critical in proper brain development and function. Predominantly affecting children, SYNGAP1 mutations lead to developmental delay, intellectual disability, and additional symptoms that are common with other causes.
As such, confirmation of SYNGAP-related NSID is through genetic testing. To improve awareness and understanding of SYNGAP-related NSID and better inform treatment development, the Bridge the Gap Education and Research Foundation, in partnership with the National Organization for Rare Disorders and support from the US Food and Drug Administration, launched the SYNGAP1 (MRD5) patient registry in 2017. Here, we describe patient demographics, diagnoses, and quality of life in registry patients.
Value in Health Journal; May 2019 Volume 22, Supplement 2, Page S346
In addition to cognitive impairments, neurodevelopmental disorders often result in sensory processing deficits. However, the biological mechanisms that underlie impaired sensory processing associated with neurodevelopmental disorders are generally understudied and poorly understood. We found that SYNGAP1 haploinsufficiency in humans, which causes a sporadic neurodevelopmental disorder defined by cognitive impairment, autistic features, and epilepsy, also leads to deficits in tactile-related sensory processing.
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NORD gratefully acknowledges Dr. Jacques L. Michaud, Department of Medical Genetics, CHU Sainte-Justine, Montreal, Quebec; Jimmy L. Holder Jr., Assistant Professor of Pediatrics and Neurology, Baylor College of Medicine; Constance L. Smith-Hicks MD, PhD, Kennedy Krieger Institute; Shaowen Ju, Johns Hopkins University School of Medicine; Gavin Rumbaugh, PhD, Associate Professor, Department of Neuroscience, Scripps Florida; Thomas K. Creson, PhD, Research Associate, Department of Neuroscience, Scripps Florida; and Monica Weldon, President, Bridge the Gap – SYNGAP Education and Research Foundation, for the preparation of this report.
This is a story of my son Beckett and his diagnostic odyssey. This is the real story behind finding a diagnosis to an Ultra Rare Disease, coping with the life of raising a child with special needs and dealing with all that entails it. From financial strain, marital problems, siblings and more. There are 7000 rare diseases. 1 in 10 Americans have a rare disease. 95% percent of those do not have an FDA approved treatment. This is my quest to find treatments for my son and ones like him to have a chance at a better quality of life.