ABSTRACT
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
Subject(s)
CREB-Binding Protein , E1A-Associated p300 Protein , Rubinstein-Taybi Syndrome , Rubinstein-Taybi Syndrome/genetics , Rubinstein-Taybi Syndrome/diagnosis , Rubinstein-Taybi Syndrome/therapy , Humans , CREB-Binding Protein/genetics , E1A-Associated p300 Protein/genetics , Consensus , Disease Management , MutationABSTRACT
BACKGROUND: Long-term care services are funded primarily by Medicaid long-term services and support in the United States, where eligibility is based on care needs of the individual with intellectual and developmental disability alone. Impact of Medicaid waiver services on self-reported caregiver needs is not well understood. METHOD: Caregivers (n = 405) of individuals with intellectual and developmental disabilities across four states (NY, OH, TX, and PA) completed an online survey. RESULTS: Caregivers reported a moderate degree of burden and susceptibility of stress-induced health breakdown. Despite controlling for the activities of daily living of the care recipient, caregivers of individuals with Medicaid Waiver services reported greater difficulty managing medications (p = .013) and finding paid help (p < .001) than caregivers of individuals without services.
Subject(s)
Caregivers , Developmental Disabilities , Intellectual Disability , Long-Term Care , Medicaid , Humans , Intellectual Disability/nursing , Caregivers/psychology , Developmental Disabilities/nursing , United States , Adult , Male , Female , Middle Aged , Aged , Young AdultABSTRACT
This Viewpoint discusses how the National Institutes of Health designation of individuals with disabilities as a health disparity population can boost research participation and funding and expand health care access for pediatric patients with disabilities.