Educational Priorities for Children with Cri-Du-Chat Syndrome

There are few data on the educational needs of children with cri-du-chat syndrome: a neurodevelopmental disorder that affects learning and development. We therefore designed an Internet survey to identify parents’ educational priorities in relation to children’s level of need/ability. The survey listed 54 skills/behaviors (e.g., toileting, expresses wants and needs, and tantrums) representing 10 adaptive behavior domains (e.g., self-care, communication, and problem behavior). Parents rated their child’s current level of ability/performance with respect to each skill/behavior and indicated the extent to which training/treatment was a priority. Fifty-four surveys were completed during the 3-month data collection period. Parents identified nine high priority skills/behaviors. Results supported the view that parent priorities are often based on the child’s deficits and emergent skills, rather than on child strengths. Implications for educational practice include the need for competence to develop high priority skills/behaviors and the value of assessing children’s deficits and emergent skills to inform the content of individualized education plans

Long-term efficacy of ciliary muscle gene transfer of three sFlt-1 variants in a rat model of laser-induced choroidal neovascularization.

Inhibition of vascular endothelial growth factor (VEGF) has become the standard of care for patients presenting with wet age-related macular degeneration. However, monthly intravitreal injections are required for optimal efficacy. We have previously shown that electroporation enabled ciliary muscle gene transfer results in sustained protein secretion into the vitreous for up to 9 months. Here, we evaluated the long-term efficacy of ciliary muscle gene transfer of three soluble VEGF receptor-1 (sFlt-1) variants in a rat model of laser-induced choroidal neovascularization (CNV). All three sFlt-1 variants significantly diminished vascular leakage and neovascularization as measured by fluorescein angiography (FA) and flatmount choroid at 3 weeks. FA and infracyanine angiography demonstrated that inhibition of CNV was maintained for up to 6 months after gene transfer of the two shortest sFlt-1 variants. Throughout, clinical efficacy was correlated with sustained VEGF neutralization in the ocular media. Interestingly, treatment with sFlt-1 induced a 50% downregulation of VEGF messenger RNA levels in the retinal pigment epithelium and the choroid. We demonstrate for the first time that non-viral gene transfer can achieve a long-term reduction of VEGF levels and efficacy in the treatment of CNV.Gene Therapy advance online publication, 27 June 2013; doi:10.1038/gt.2013.36