CHARGE.
By David Brown, February 1996.
Identifying Characteristics
CHARGE Association is a multi-featured disorder characterised by a unique combination of diverse abnormalities. The pattern of features was first described in 1979 (1) but the acronym 'CHARGE' was first used in 1981. (2) This is, therefore, a relatively newly-recognised condition. The acronym 'CHARGE' is used to describe a heterogeneous group of children who exhibit at least four of the features prefixed by the letters of the acronym and including one or other of choanal atresia and colobomata. The combination of critical features was identified as:
C Coloboma are ocular deformities involving an absence of part of the eye, and visual impairments may or may not be present. Coloboma of the iris may reduce the child's ability to adjust to bright light; coloboma of the retina will create a blank area in the child's visual field. Anophthalmos or microphthalmia may also be present.
H Heart defects include tetralogy of Fallot, patent ductus arteriosus, atrial and ventricula septal defects, and others.
A Choanal Atresia a narrowing or a blockage of the passages between the nasal cavity and the naso-pharynx, is one of the major criteria for diagnosis. The blockage may be unilateral or bilateral, membranous or bony.
R Retarded growth may become manifest as the child matures. The majority of children with CHARGE Association are below the third percentile of physical growth norms.
G Genitalia anomalies. The incomplete development or under-development of the external genitals is common in males, very rarely evidenced in females.
E Ear anomalies can affect the external ear (lop or cup shaped, large, small or absent), middle ear (ossicular malformations, chronic serous otitis, stapedius tendon anomalies), and/or the internal ear (especially high frequency sensori-neural hearing loss). Mixed hearing loss (ie conductive loss with sensori-neural loss) is the most common form of hearing loss in CHARGE Association. Malformation or absence of the semi-circular canals is fairly common.
Evidence exists of other anomalies associated with this condition in
addition to those above:
Historically, the medical profession considered mental retardation
a characteristic feature of CHARGE Association. Recent literature
suggests this may now be coming to be seen as an outcome of the other combined
anomalies rather than as an integral anomaly of the Association itself.
(3) (4)
At the First International CHARGE Association Conference (St Louis, 1993) it was proposed to alter the criteria for diagnosis to make earlier assessment easier by incorporating features which can be identified soon after birth, but this proposal has not yet been pursued.
Aetiology
The exact cause of CHARGE Association is still unknown but research suggests a variety of catalysts may induce the irregularities present in the CHARGE sequence of anomalies. The majority of cases are thought to be sporadic with no obvious evidence of genetic involvement. There is some evidence in the literature of characteristics of CHARGE being inherited, and also some evidence to suggest chromosome deletion in some cases. (5) References in the literature, and many parents of children affected, suggest the possibility of linking CHARGE with exposure to teratogens (substances which interfere with normal prenatal development) contained in pesticides, fungicides and wood preservatives, in the early stages of pregnancy, but this has not been proven. It seems likely that multiple genetic and environmental factors play a role in the aetiogenesis of the CHARGE Association.
Prevalence
In 1993 Hall referred to over six hundred children world-wide having been identified as presenting with CHARGE Association. (6) The support group in the United Kingdom has recorded over one hundred people with CHARGE, of whom several have died. (7) A survey of the deafblind population in New England aged nought to fifteen in 1992 revealed four percent with the diagnosis of CHARGE Association; (8) CHARGE accounts for six percent of the nought to five year old population currently being worked with by the Sense Family Centre in London.
Educational Implications
Most of the literature on CHARGE is medical and until five or six years ago showed little understanding of the educational needs or potential for development of children with CHARGE Association. This has improved in more recent literature and, as explained above, with growing awareness of the importance of early educational intervention and of the need for appropriate educational approaches, it should become increasingly rare for 'mental retardation' to be automatically ascribed to young children with CHARGE Association.
Severe health problems are common in the early lives of children with CHARGE Association, usually necessitating multiple surgeries and repeated and prolonged hospitalisation. (9) It may be difficult for therapists and educationalists to gain access to children and their families during this period, but such access should be facilitated in a planned and co-ordinated manner as early as possible, not just to ensure optimal development for the child but also to try to minimise the devastating impact of these repeated surgeries and hospitalisations.
As with all young children born with multiple disabilities, it may take years to determine fully the extent and nature of each disability. The present writer has worked with several young children with CHARGE Association who presented as having severe visual impairment and severe hearing loss but who, subsequently, made excellent use of residual vision and hearing after appropriate early intervention and a great deal of hard work by their families and local teachers. (10) A survey of thirty-nine children carried out in the United Kingdom in 1992 revealed that all had been delayed in their early motor development (mean age of walking was four years) yet one third had not received input from a physiotherapist. Similarly, of the children with functional visual impairment two-thirds had received no input from an advisory teacher for the visually impaired in the pre-school years, and of those with dual sensory impairment only just over a quarter had received input from a 'deafblind' specialist in this crucial period. (11) As CHARGE Association becomes better known in the deafblind field it is hoped that this situation improves.
International Aspects
The two International CHARGE Association Conferences (St Louis 1993, Portland 1995) were organised by CHARGE Accounts, Quota Club, (2004 Parkade Boulevard, Columbia, MO 65202, USA). The Third Conference is planned for Boston in July 1997.
The First Australian CHARGE Association Conference took place in Sydney
in 1994, organised by the Royal New South Wales Institution for Deaf and
Blind Children, (36-365 North Rocks Road, North Rocks, New South Wales,
2151 Australia). The Second Australian Conference is planned for
North Rocks in July 1996.
In the United Kingdom the key organisation is the CHARGE Association
Family Support Group run by Mrs Sheila Draper, (115 Boundary Road, Colliers
Wood, London SW19 2DE, England). The annual CHARGE Association Picnic
will take place in London on 4 August 1996, and it is hoped to feature
presentations and a meeting about CHARGE Association at the Sense Weekend
Away in Birmingham in September 1996. The present writer has contacts
who are interested in CHARGE Association in Canada, Italy, Denmark, Sweden,
Norway and Germany.
References
1 Hall, BD (1979). "Choanal Atresia and Association Multiple Anomalies" Journal of Paediatrics 95 395-398
2 Pagon RA, Graham JM, Zonana J and Youing SL (l981). "Congenital Heart Disease and Choanal Atresia with Multiple Anomalies" Journal of Paediatrics 99 223-227.
3 Blake KD and Brown D (1993). "CHARGE Association Looking at the Future - the Voice of a Family Support Group" Child: Care, Health and Development 19 395-409.
4 Blake D, Russell-Eggitt IM, Morgan DW, Ratcliffe JM and Wyse RKH (1990). "Who's in CHARGE? Multi-Disciplinary Management of Patients with CHARGE Association" Archives of Diseases in Childhood 65 217-223.
5 Blake et al (1990). 220
6 Hall, BD (1993) "What's in a Name? History of CHARGE, Recognising and Naming Syndromes" Paper presented at the First International CHARGE Syndrome Conference, St Louis, Missouri.
7 CHARGE Association Family Support Group. Mr & Mrs N Draper, 115 Boundary Road, Colliers Wood, London SW19 2DE, United Kingdom. (tel: 0181-540 2141).
8 Riggio, M (1992). "A Changing Population of Children and Youth with Deafblindness" Proceedings of the National Conference on Deafblindness: Washngton DC. 20-26.
9 Blake et al (1990).
10 See also Riggio (1992). 23.
11 Blake et al (1993).