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We find that up to 70% of affected females were reported to display syndromic features including gastrointestinal dysfunction and hearing impairment. Here, we present caregiver-reported data for 37 unrelated individuals with pathogenic variants in KDM5C the largest cohort reported to-date. Although not as well characterized, females have been reported to predominantly display mild to moderate ID with approximately half being asymptomatic. Previous studies have found that males present with moderate to severe ID with significant syndromic comorbidities such as epilepsy, short stature, and craniofacial abnormalities. As a rare disorder, its etiology and natural history remain an area of active investigation, with treatment limited to symptom management. To date, 45 unique variants in KDM5C have been reported in individuals with ID. Additionally, the clinic's close relationship with Jacobi Medical Center permits easy referral for treatment in the operating room when appropriate.Loss of function variants in the lysine demethylase 5C ( KDM5C) gene account for approximately 0.7–2.8% of X-linked intellectual disability (ID) cases and pose significant burdens for patients and their caregivers.
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Patients travel from as far as New England, Pennsylvania, and upstate New York for this unique service. This program would incorporate a significant component of training and care for the population of special needs patients. Diner was given the opportunity to open a dental clinic for special needs children and begin a new pediatric dentistry residency program at the center. Kennedy Center for Research in Mental Retardation and Human Development of the Albert Einstein College of Medicine opened on the grounds of BMHC.
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Harold Diner began providing dental treatment to children with developmental disabilities as part of the general dental program at the Bronx Municipal Hospital Center (BMHC, now Jacobi Medical Center). In 1965, to help alleviate the shortage of practitioners willing and able to care for developmentally disabled patients, Dr. As time progressed, there were few resources available for people with developmental disabilities to access healthcare in general and dental care in particular. In the early part of the twentieth century, people with developmental disabilities received health services in large public institutions. Our dental anesthesiology residents and our attending dentist anesthesiologists are the sole providers of comprehensive anesthesia services for the dental patients treated in the Rose F Kennedy Center for Special Patient Care. One special care dental fellow and approximately 45 residents rotate through RFK each year (includes pediatric dentistry and general practice residents from affiliated programs). The dental clinic has approximately 5,100 patient encounters per year. The dental program is an integral service and training component of the broader Kennedy Center, which serves as a tertiary referral center for children with genetic and developmental anomalies. Outreach to patients and caregivers in promoting oral health maintenance procedures and practices. Training in special care dentistry to postgraduate dental residents and fellows Kennedy University (RFK) Center for Excellence in Developmental Disabilities dental program provides:Ĭlinical dental services to patients with developmental disabilities,