Many children with CHARGE undergo significant and frequent life-threatening medical procedures, outside of extended hospital stays upon their birth. Most recently, the lab is undergoing investigations into parental stress responses and post-traumatic stress disorder symptomology in parents of children with CHARGE. While much research has been done on divorce rates and other family dynamics related to genetic conditions, MSU is a pioneer in determining similar impacts on CHARGE families. Their goal is to create ways to teach functional and supportive skills to replace challenging behaviors. At MSU, students are pursuing ways to assess the functions of these behaviors in order to develop individualized interventions to meet the needs of the individual with CHARGE. CHARGE syndrome is most often caused by pathogenic variants (mutations) in the CHD7 gene. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. The clinical definition has evolved with time. CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. In addition, David talks about the educational implications resulting from sensory processing issues. Development of appropriate evaluation and management plan. He describes the impact of sensory processing on proprioception, the vestibular sense, and behavior. Differential diagnosis from the 22q11 deletion spectrum (VCFS/DiGeorge syndrome), VACTERL association, PAX2 mutations and Retinoic embryopathy. The physical, cognitive and communicative losses in CHARGE can impact everyday behavior and elicit challenging behaviors, such as self-injury and aggression. CHARGE syndrome is the most complex condition that we know. CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. In this webcast David Brown provides an overview of the impact that CHARGE Syndrome has on sensory processing. Addressing behavioral challenges is another focus area.
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