Abstract
This article reports findings of a questionnaire completed by 44 families living in the UK with a child (aged 15 years or younger) with a medical diagnosis of CHARGE syndrome. The questionnaire contained three sections, namely Diagnosis (including medical and health issues), Child development, and Educational provision. This article reports on the findings of the first section (Diagnosis) that provided information on the presence of major and minor characteristics of CHARGE using the diagnostic criteria outlined and other existing conditions, diagnosis, the provision of vision and hearing aids, genetic testing and regularly prescribed medication. Where possible, the findings were compared with other literature. The findings suggest that affected individuals are receiving a diagnosis at an earlier age than previously. Occurrence of the major characteristics on the whole matched the rate of incidence reported in other literature, with the exception of the presence of a facial palsy that was found to be higher in this study. Many of the minor characteristics were reported by participants, who also reported additional issues including sleep difficulties and sensory integration difficulties. This study also showed this is a highly medicated population. This article provides a reflection on the relevance of these findings for practitioners working with diagnosed children and their families to support everyday living and learning.
Introduction
CHARGE syndrome is a highly complex condition and the vast majority of affected individuals will experience extreme multi-sensory impairment and face many challenges in their everyday life. It was first described in 1979 independently by Hall and also Hittner, Hirsch, Kreh, and Rudolph. The original label CHARGE was an acronym (Pagon, Graham, Zonana, & Yong, 1981) representing the diagnostic criteria. Over time this criteria for diagnosis has been modified as more became known about the condition (Blake et al., 1998; Sanlaville & Verloes, 2007). The current major characteristics forming the diagnostic criteria refer to eye anomalies (e.g., coloboma, likely to cause a visual impairment), choanal atresia, cranial nerve anomalies and ear anomalies (of the outer, middle and inner ear); in addition many minor characteristics are associated with the syndrome (Sanlaville & Verloes, 2007). The diagnosis remains a clinical one although there is now some development in identifying a gene related to CHARGE syndrome (Vissers et al., 2004). This gene is identified as a cause of CHARGE syndrome and impacts upon early embryonic development, compromising the development of organs affected. It is a low incidence disability affecting between 1:10,000–1:15,000 live births.
The wide number of anomalies associated with CHARGE occur in a different combination in each individual and they will each be affected in different ways. This reflects the growing knowledge and understanding of CHARGE syndrome as a medical condition. It is recognized that:
Among genetic conditions, CHARGE is the leading cause of congenital deafblindness (dual-sensory impairment). (Hartshorne, Hefner, Davenport, & Thelin, 2011, p. 1)
In addition to developing knowledge of the medical implications of CHARGE, therefore, it is important that professionals and families supporting individuals with CHARGE syndrome also develop their knowledge and understanding of the implications of this condition for everyday living so that optimal support and the best opportunities are provided.
The following study was undertaken collaboratively by Sense (a national charity working in the field of deafblindness) and the CHARGE Family Support Group (CFSG) in the UK. The purpose of the study was to gain information through a questionnaire for families of children with CHARGE to:
Build upon existing knowledge of CHARGE syndrome;
Help recognize areas of need;
Improve the support we can give to children, young people and their families and to the professionals working with them.
Background
A questionnaire was designed to be sent out to all families with a child who has a medical diagnosis of CHARGE and known to Sense and/or the CFSG. It was recognized that this would exclude families in the UK who were not known to either organization. The design of this questionnaire was piloted in a study of eight families (Deuce, 2009) and the analysis of this was used to inform the final design.
The intention was that the responses given would be used to obtain information relating to diagnosis and early development, the educational experiences of children with CHARGE and the nature of support currently being offered. It was thought this information could be used to ensure appropriate support and increase the understanding of the needs of individuals with CHARGE syndrome and their families.
Method
The use of a questionnaire was considered the most appropriate way to reach the maximum number of participants within the resources available to the organizations involved, and to provide anonymity since it was felt this would encourage more frank responses. Use of interviews was also considered but rejected due to the demands it would place on human resources, and because it might restrict participants in the answers they gave (see Robson, 2002, pp. 233–234). The questionnaire was designed to contain predominantly closed questions where participants were required to select one from a given number of responses. Opportunities were also given to provide additional comments. Responses to the closed questions would provide mainly quantitative data. It was anticipated that any further information offered was likely to be more qualitative in nature.
The questionnaire was divided into three sections:
Diagnosis (including medical and health issues);
Your child’s development;
Educational provision.
This article presents data relating to the first section: Diagnosis (including medical and health issues). The purpose of this section in the questionnaire was to consider:
The presence of major and minor characteristics of CHARGE in the UK population using the diagnostic criteria outlined by Sanlaville and Verloes (2007), and the prevalence of other existing conditions (see Tables 3 and 4);
The provision of aids for vision and hearing;
Genetic testing for the CHD7 gene and the prevalence of a CHD7 genetic defect;
Medication used in management of medical and health needs of children with CHARGE, since it was felt this may be a factor influencing learning and day to day living.
The questionnaire was posted out or sent via email (where preferences were known) to 120 families who have a family member with a medical diagnosis of CHARGE syndrome. Due to restrictions of the Mental Capacity Act (2005) this was circulated to families of children with CHARGE aged 15 years or younger. A letter was also sent out to the families explaining the research and addressing ethical issues to ensure that informed consent was being sought. Written consent was then obtained as part of the process of completing the questionnaire. Subsequent reminder letters were sent out after one month’s duration together with a further copy of the questionnaire.
An initial framework for the data analysis was established and designed by the authors using Microsoft Excel to record both the quantitative and qualitative information provided. This was structured to code the responses to the questions so that the outcomes could be identified and cross reference analysis could be undertaken. Due to resources available the collation of data was undertaken by an external company on a pro bono basis. When the responses were recorded in the framework and returned to the authors a check for accuracy was undertaken by randomly sampling the questionnaires and checking the responses collated. Further accuracy checks were made regarding specific queries relating to the data as it was scrutinised by the authors.
Findings
Completed questionnaires were returned by 47 families, providing a response rate of 39 percent. Of these, two of the affected individuals in the families were over the age of 15 by the time the questionnaire was completed, and one questionnaire was returned after the data had been collated. These were therefore disregarded resulting in a total of 44 questionnaires from which data was collated. The range of ages of children with CHARGE included in the sample is presented in Table 1.
Age range of children in sample (N = 44)
Diagnosis
Of the 44 respondents, 24 (55%) were diagnosed with CHARGE syndrome before the age of 3 months. Overall, 40 (91%) of the children were diagnosed before the age of 18 months. The remaining four (9%) children were diagnosed before the age of 4 years.
There were a range of professionals who made the medical diagnosis. All were medical practitioners with different specialisms as shown in Table 2. This information was not known for nine (20%) of the 44 respondents and a consultant with an unknown specialism was also included in the responses. Predominantly the diagnosis was given by a Geneticist, this being the case for 20 (45%) of the respondents.
Person giving medical diagnosis of CHARGE (N = 44)
A number of questions were asked relating to the major and minor characteristics of CHARGE identified in the diagnostic criteria described by Sanlaville and Verloes (2007).
Information relating to the major characteristics is set out below and summarized in Table 3.
Occurrence of major characteristics of CHARGE in this study as described by Sanlaville & Verloes, 2007 (N = 44)
Major characteristics: Ear anomalies
Families were asked whether their child had a hearing loss, the type of amplification provided and whether the child had an MRI scan that would provide information about their semicircular canals and auditory nerves.
Forty-one (93%) respondents reported a hearing impairment and the remaining three respondents reported that their child did not have a hearing impairment. Thirty-eight (86%) children had an MRI/CT scan, whilst five had not and one family reported that they did not know if this procedure had been undertaken. Of the 38 children who had undergone the procedure, 27 had missing or malformed semicircular canals resulting in vestibular (balance) difficulties, two did not and a further nine families did not know. In addition 16 of the 38 children had missing or malformed auditory nerves adversely affecting the transfer of sound signals to the brain resulting in a significant or total hearing loss. Six did not and it was not known for the remaining 16 of these 38 children.
Thirty-four (77%) respondents reported that their child used some form of amplification. Of these, 27 reported that their child used digital hearing aids; two reported that their child had a cochlear implant and five reported that their child had a bone anchored hearing aid (BAHA). The remaining 10 respondents did not report any form of amplification. Three of these children were reported to have hearing within normal limits, and by comparing answers to later questions it was found that the remaining seven of these children who did not have any form of amplification had malformed or missing auditory nerves.
Major characteristics: Eye anomalies
Families were asked whether their child had a visual impairment and also whether their child wore glasses to correct a refractive error. Of the 44 respondents, 40 (91%) reported that their child had a visual impairment. Only two reported that their child did not have a visual impairment and a further two did not know. Twenty-five (57%) children were reported to wear glasses.
Major characteristics: Cranial nerve anomalies
Questions were asked to identify whether a child had a facial palsy, or difficulties with sense of smell, balance, or swallowing.
Twenty-two (50%) children were reported to have a facial palsy, likely to affect social interactions, speech production and eating and drinking. Twenty were reported not to have a facial palsy and it was not known for the remaining two children.
Twenty (45%) of the children in the sample were reported to have difficulties with their sense of smell. The remaining 24 (55%) reported that it was not known whether their child had difficulty with their sense of smell. Two families commented that it was difficult to confirm this due to the young age of their child, although the results also showed that this was not known for six children over the age of 10. No family reported that their child did not have a difficulty with their sense of smell. If this sense was reduced or absent, the child would be unlikely to use it effectively to compensate for their other sensory impairments. Additionally, it may adversely affect the development of early bonding and social relationships; eating and drinking; and awareness of danger.
Forty (91%) of all respondents reported that their child had difficulties with their balance (vestibular) sense. Of the remaining children it was reported that three did not have difficulties and it was not known for the other one child. A child with a poorly developed or absent vestibular system will have difficulty with posture, planning movements, perceptual awareness, effective use of vision and hearing.
Of the 44 respondents, 37 (84%) were reported to have swallowing difficulties, and the remaining seven all reported that the child did not have any difficulty in this area.
Major characteristics: Choanal atresia or stenosis
Participants were asked whether their child had any blockage or narrowing of the nasal passages (choanal atresia or stenosis). If left untreated this could potentially be life threatening or the child is likely to experience persistent breathing difficulties. Twenty-three (52%) reported the presence of a choanal atresia or stenosis. Nineteen (43%) reported that their child did not and the remaining two (5%) did not know.
Minor characteristics and other existing conditions
Participants were asked to identify other characteristics of CHARGE or conditions they felt might be related to CHARGE that their child has. A number of conditions were identified and those that were reported by more than one respondent are presented in Table 4. Minor characteristics reported by the respondents as identified by Sanlaville and Verloes (2007) are cleft lip and/or palate, congenital heart defects; restricted growth, small genitalia, renal anomalies, a typical CHARGE face and a CHARGE behavioural profile that includes perseverative behaviours (including OCD).
Occurrence of minor characteristics in this study as described by Sanlaville & Verloes, 2007 (asterisked*), and other conditions reported by more than one family (N = 44)
Families also reported hypotonia, sleep difficulties, sensory integration issues, abnormal pain threshold, incontinence, poor temperature regulation and no fear of danger.
Genetics
Families were also asked questions relating to testing for a mutation of the CHD7 gene. Of the 44 children in the total sample, 28 (64%) had been tested for the CHD7 gene. Thirteen (30%) had not been tested and it was reported that it was not known for the remaining three (7%) children.
It was reported that 18 of the 28 children who have been gene tested, had a mutation of the CHD7 gene identified. The specific type of mutation that this might be was not asked in the questionnaire, consequently five of the 28 children did not have a mutation identified and it was not known for the remaining five children.
Medication
The response from families when questioned about regularly prescribed medications for their child revealed that this is a highly medicated group of children. Thirty-three (75%) of the children in this sample received regular medication and many of these children were prescribed more than one, with the average for the entire sample being almost four medications per child. The number of regularly prescribed medications prescribed for the children in this sample is presented in Table 5.
Number of regular medications prescribed (N = 44)
Families were requested to state why these medications were prescribed. The most common causes were reflux in 20 children (45%); chest infections in 14 children (32%); and sleep issues in 13 children (30%). An outline of reasons for medication being prescribed that were identified in more than one child in the study is presented in Table 6. It was also interesting to note that only one child had been prescribed medication for behavioural issues.
Reasons for medication being prescribed and number of children receiving regular medication for this condition
Discussion
This article reports on data obtained from Section I: Diagnosis (including medical and health issues) of a questionnaire sent out to families in the UK where there was a family member aged 15 years or under with a medical diagnosis of CHARGE.
In comparison to the pilot study (Deuce, 2009), the age at which a diagnosis of CHARGE is being made is encouraging. Anecdotal evidence of the older CHARGE population suggests a significant number of individuals who did not receive a diagnosis until they were in their teens or older. As this questionnaire was only distributed to families with an affected child under the age of 16 this suggests that the younger population of individuals with CHARGE are receiving a clear diagnosis at an earlier age. This is encouraging since once CHARGE has been identified this can inform the development of appropriate intervention and support to address the implications of living with this condition.
Genetic testing for a mutation of the CHD7 gene had been undertaken for only 28 children (64%) in the sample. Of these, a mutation of the CHD7 gene was reported for only 18 children and this reflects the fact that currently identification of CHARGE syndrome relies on a clinical diagnosis (by a relevant medical professional), that may be supported by gene testing. Blake, Hartshorne, Lawand, Dailor, and Thelin (2008, p. 585) also reported that CHD7 mutations have been found in 60–65 percent of patients which suggests that a significant number of individuals diagnosed with CHARGE syndrome are not found to have a mutation of the CHD7 gene.
The findings of this study show that although geneticists form the largest group, there is a range of different medical consultants who have provided a diagnosis of CHARGE syndrome. It is therefore important to ensure that all those specialists who may potentially be involved in making a diagnosis have full knowledge of the condition and the criteria used.
The presence of anomalies outlined in the diagnostic criteria presented by Sanlaville and Verloes (2007) and occurring within this sample was compared to figures provided by Hartshorne, Hefner, Davenport, and Thelin (2011, p. xiii). The occurrence of these anomalies on the whole matched the rate of occurrence identified by Hartshorne et al. (2011). Hearing loss was present in 41 children (93%) and visual impairment in 40 children (91%). It was noted, however, that a facial palsy was present in 22 children (50%) in this sample which shows a higher rate of incidence when compared to the 40 percent reported by Hartshorne et al. (2011).
As well as the minor characteristics described by Sanlaville and Verloes (2007) families reported hypotonia, sleep difficulties, sensory integration issues, abnormal pain threshold, incontinence, poor temperature regulation and no fear of danger. These additional issues raised by the families are well documented in literature relating to CHARGE (e.g., Hartshorne et. al., 2011), although not identified in terms of diagnostic criteria. This reinforces the need for a holistic overview of all the child’s needs from a multi-disciplinary and multi-agency perspective when supporting a child with CHARGE.
In addition to the often complex medical needs of a child with CHARGE, recognition needs to be given to the interplay between the impairments of the different senses and the impact each may have on the other and in turn on the child’s ability to function and learn. For example, a child’s vestibular (balance) difficulties may be further affected by visual and hearing impairments, poor tone and proprioceptive issues. In turn vestibular difficulties may also affect the child’s memory, ability to sequence, attention, orientation and mobility and social interactions (Brown, 2007). Consequently, it is essential that children who experience these difficulties have access to a physiotherapist or occupational therapist who can support the child to reduce the impact of these difficulties and develop compensatory strategies.
Colobomas and microphthalmia in individuals with CHARGE are well documented in literature (Hyvärinen, 2011), but it was also interesting to note that 25 children (57%) wore glasses to correct a refractive error. Currently this is something that is not widely raised when discussing the visual needs of individuals with CHARGE.
Hearing loss was identified in 41 children (93%) in this study and many are likely to benefit from the provision of appropriate amplification. Three children in the sample were reported to have normal hearing and therefore did not have any prescribed amplification. The other seven children who were reported to have no amplification also had malformed or missing auditory nerves. For these children it is possible that their only experience of sound will be through vibration and practitioners seeking to support them effectively will need to consider strategies other than those that aim to make optimal use of residual hearing and appropriate amplification. Whether a cochlear implant is appropriate for a child with CHARGE will be partly dependent on the presence and severity of cochlear and/or auditory nerve anomalies (16 children (36%) in this study were reported to have missing or malformed auditory nerves) which would preclude the suitability of an implant.
Children with significant visual and hearing impairments will experience difficulties in finding out information, communicating with others and moving around the environment (Aitken, 2000, p. 3). In addition, a child with CHARGE is likely to encounter true and extreme multi-sensory impairment; sensory integration dysfunction affecting all areas of development, learning and behaviour; significant difficulties with self-regulation and executive function difficulties.
The response from families when questioned about regular medication showed that this is a highly medicated group of children. This is perhaps not surprising when we consider that CHARGE syndrome is a multiple anomaly syndrome and affected individuals often have complex and many medical conditions. The two most common reasons for medication (reflux and chest infections) may be related to eating and drinking difficulties demonstrating the need for involvement and support for dysphagia (swallowing difficulties). A significant number of children were also reported to receive regular medication for sleep issues and this too raises the need for more input and support for families to manage their child’s sleep disorder.
The range and complexity of issues faced by the child with CHARGE syndrome highlights the importance of involved practitioners having knowledge of the syndrome and the implications of true multi-sensory impairment. Trans-disciplinary and multi-agency working in a holistic and collaborative way will also be required.
Conclusion
CHARGE syndrome is a multiple anomaly syndrome and the results from this study demonstrate its complexity and the range of medical conditions seen in affected children. It is important not to underestimate the implications of this for the child and their family who live with CHARGE every day. There is a need for close collaborative working amongst all practitioners and the families to ensure that there is a clear understanding of the implications of these conditions and their impact on the child’s ability to learn and successfully engage in everyday life. Only then can an informed and effective package of support be developed and implemented.
It is intended that the data and outcomes of the remainder of the questionnaire (the child’s development and educational provision) will also be published within the near future. Ultimately, the intention is to undertake a similar survey focusing on young persons (aged over 15 years) and adults with CHARGE to gather information related to adult life and where support may need to be developed. Further examination of those issues identified by parents within this study is also required (e.g., sleep issues, eating and drinking difficulties).
Footnotes
This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
The authors declare that they do not have any conflict of interest.