CHARGE syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

CHARGE is a congenital syndrome (formerly known as CHARGE association) first described in 1979.

In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children.[1] The letters stand for: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains.

History of CHARGE

Dr. B.D. Hall first described the CHARGE association in a 1979 journal paper about 17 children who had all been born with choanal atresia.[2] About the same time, Dr. H.M. Hittner also observed that the group of 10 children in a study all had choanal atresia as well as coloboma, congenital heart defect, and hearing loss.[3] Using both a coloboma or choanal atresia and some of the other related characteristic malformations, Dr. R. A. Pagon first coined the term CHARGE.[1] In choosing this acronym, Dr. Pagon intended to emphasize that this cluster of associated malformations occurred together. It soon came to be recognised as a syndrome within the umbrella of the CHARGE association. While an association is a set of apparently random signs occurring together, the signs seen in CHARGE are caused by a genetic anomaly and so its name was officially corrected to 'CHARGE syndrome'.

Genetics

CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with CHARGE will have 100% of its known features. In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in a study conducted in the Netherlands, making CHARGE an official "syndrome".[4] A further study in the US of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation on the CHD7 gene.[5]

Signs

Although genetic testing positively identifies nearly 2/3 of the total number of children with CHARGE, diagnosis is still largely clinical.[2]. The acronym CHARGE was coined in 1981 to describe a cluster of features identified in a number of children. The following are the signs that were originally identified in children with this syndrome, but these features alone are no longer used in official diagnosis.

Epidemiology

CHARGE syndrome has an estimated prevalence of one in over nine thousand.

Therapy and outcome

Children with CHARGE syndrome can have many life threatening issues, with advance in medical care these children can survive and become healthy and happy individuals. Appropriate therapies and educational intervention that is given to individuals with CHARGE syndrome must take into consideration hearing, vision and any other medical conditions that are present. Early intervention, such as occupational and physical therapy is very important as the intelligence of children with multiple health issues such as combined deaf blindness is often underestimated. Because of the developmental delay, early intervention would play an important role in mobility, improving static postures, transitioning towards ambulation, and teaching self care skills. Both physicians and parents need to be made aware that these children can thrive with the support of a team of medical professionals. Management should be by a multidisciplinary team and coordinated by a single person, if possible.

Educational Goals

Parents of children with CHARGE should be encouraged to become IN CHARGE and very active advocates for their children in order to ensure that an educational program is made that will allow each child to reach their full potential. All children regardless of their final cognitive abilities will require special support in schools to ensure that they maximize their potentials and develop into the most productive people that they can be.

In an educational setting all involved must be aware of the special needs a child with CHARGE may have. Teachers of children with CHARGE Syndrome have to be aware of all areas affected by the disease. Because CHARGE can affect the eyes, ears, and brain it is most important that all members of the educational team (teacher of the deaf and hard of hearing, teachers of the visually impaired, audiologists, pediatricians, parents, etc.) Taking each of these into account is vital to the success of the child and family in an educational setting.

Understanding Behaviors

Parents, teachers and caregivers should understand that all behaviors, whether good or bad, are a form of communication. An important step in dealing with the behavior is understanding why it is occurring in the first place and helping the child learn more appropriate methods of communication

Transitioning Into Adulthood

Parents should make sure that before their child reaches 18 (or year of majority for their country), that they have established doctors and specialists who will follow the child after they have reached adulthood. Even if the young adult with CHARGE is independent, it’s important to help them maintain their independence by helping them move from the pediatric doctors to the new doctors who will follow them as adults. It is not recommended to rely on hospitals to do that for the parents.

References

  1. 1.0 1.1 Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association". J. Pediatr. 99 (2): 223–7. PMID 6166737.
  2. Hall BD (1979). "Choanal atresia and associated multiple anomalies". J. Pediatr. 95 (3): 395–8. PMID 469662.
  3. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ (1979). "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome". Journal of pediatric ophthalmology and strabismus. 16 (2): 122–8. PMID 458518.
  4. Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M.; et al. (2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics. 36: 955–957.
  5. Lalani SR, Safiullah AM, Fernbach SD; et al. (2006). "Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation". Am. J. Hum. Genet. 78 (2): 303–14. doi:10.1086/500273. PMID 16400610.

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