They love to be IN CHARGE and they are often very CHARMING.
CONCRETE LEARNING EXPERIENCES are essential to give meaning to the world around them.Ĭhildren with CHARGE can be very COMMUNICATIVE hereby visual and tactile COMPONENTS can help them. Laugh, love and live together and help them develop.Ĭ: A child with CHARGE is CREATIVE in finding solutions to COMPENSATE! CLEAR CONCEPTS give insight in a world that is often CHAOTIC for them as a result of the multi sensory impairments. Observe their qualities and take care for their needs. They are creative, humorful, active, regulative, exporative and enthusiast. However, persons with CHARGE syndrome are masters in overcoming those challenges in their own unique way. We made a (never complete!) list of all the positive qualities of children with CHARGE syndrome.Ī child with CHARGE faces a lot of difficulties and challenges in daily life. We can be involved in assessments, give advice, provide special education and care. Different specialists work together in this multidisciplinary team. Zentner GE, Layman WS, Martin DM et al (2010) Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.We have a special team for CHARGE syndrome. Writzl K, Cale CM, Pierce CM et al (2007) Immunological abnormalities in CHARGE syndrome. Wong MTY, Lambeck AJA, van der Burg M et al (2015b) Immune dysfunction in children with CHARGE Syndrome: A cross-sectional study. Wong MTY, Schölvinck EH, Lambeck AJA et al (2015a) CHARGE syndrome: a review of the immunological aspects. Vissers LE, van Ravenswaaij CM, Admiraal R et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. Trider CL, Arra-Robar A, van Ravenswaaij-Arts C et al (2016) Developing a CHARGE syndrome checklist: health supervision across the lifespan (from head to toe). Sanlaville D, Verloes A (2007) CHARGE syndrome: an update. Pagon RA, Graham JM Jr, Zonana J et al (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. Lalani SM, Hefner AM, Belmont JW et al (1993–2012) CHARGE syndrome. Jongmans MC, Admiraal RJ, van der Donk KP et al (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
#CHARGE SYNDROME MEANING UPDATE#
Janssen N, Bergman JE, Swertz MA et al (2012) Mutation update on the CHD7 gene involved in CHARGE syndrome. J Pediatr Ophthalmol Strabismus 16:122–128 Hittner HM, Hirsch NJ, Kreh GM et al (1979) Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation–a syndrome. Hartshorne N, Hudson A, MacCuspie J et al (2016) Quality of life in adolescents and adults with CHARGE syndrome. Hall BD (1979) Choanal atresia and associated multiple anomalies. Hale CL, Niederriter AN, Green GE, Martin DM (2016) Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Clin Pediatr (Phila) 37:159–173Įdwards JH, Finlay HVL, Young RB (1961) Coloboma with multiple congenital anomalies. Arch Dis Child 65:217–223īlake KD, Davenport SL, Hall BD et al (1998) CHARGE association: an update and review for the primary pediatrician. J Med Genet 48:334–342īlake KD, Russell-Eggitt IM, Morgan DW et al (1990) Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Clin Genet 77:232–240īergman JE, Janssen N, Hoefsloot LH et al (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Br Med J 1:1212–1214īergman JEH, Blake KD, Bakker MK (2010) Death in CHARGE syndrome after the neonatal period. Angelman H (1961) Syndrome of coloboma with multiple congenital abnormalities in infancy.
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