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CHARGE syndrome: Developmental and behavioral data

2005; Wiley; Volume: 133A; Issue: 3 Linguagem: Inglês

10.1002/ajmg.a.30549

1552-4833

Jacques Souriau, Manuel Gimenes, Corinne Blouin, Isabelle Benbrik, E. Ben-Brik, Arlette Churakowskyi, Bruno Churakowskyi,

Otitis Media and Relapsing Polychondritis

CHARGE syndrome has only been recognized for a little over 20 years. Most reports in the literature concern only the clinical and medical aspects of the condition. Although parents and professionals often bring up the subject of "behavioral problems" and "developmental concerns," very little information is available. With a group of families, we decided to collect data in order to have an overview of the problem. We began our investigations with longitudinal video analyses of four children (from birth or very early infancy up to the child's present age). Considerable variability was found in the development and behavior of these four children. Then in order to gather information on a larger number of children, we decided to develop a questionnaire. We felt that the questions should be based on the concerns of the parents regarding what they observe in daily life, rather than using other types of questionnaires. The parents desired an instrument that would address the unique characteristics of their children. This is a limitation in terms of making normative comparisons with other groups of children, but it provided the families with the feeling that many of these questions were relevant to their children's specific conditions. We then sent this questionnaire, along with an explanatory note, to the parents known to the "CHARGE" association and to CRESAM1. Questionnaires were also answered by families from United Kingdom, Italy, and Spain2. Here we report the pilot use of the questionnaire in the hope that it will help to support future research plans addressing relevant issues emerging from this first approach. The 10-page questionnaire was divided into sections. The first part included background information about the child and medical issues. This was followed by sections containing questions on perception, motor skills, eating/feeding, independence/autonomy, behavior, social relationships, communication, and cognitive skills. For most of the questions, the parents simply had to choose between the answers "yes," "no," and "don't know." A pre-test was carried out so that some of the questions could be refined. The questionnaires were completed by parents, sometimes with the help of a professional. The average time needed to complete the questionnaire was 1 hr. Questionnaires were returned on 71 individuals with CHARGE, out of 120 families contacted. Thirty-eight children were French, 21 English, 10 Italian, and 2 Spanish. The ages of the individuals with CHARGE ranged from 6 months to 30 years, with a mean of 8.17 years (SD = 6.26, median 7). The presence of six young adults in this sample group (from 18 to 30 years) should be noted. All 71 individuals with CHARGE had both a hearing and a vision deficiency. All the analyses made were based on the group as a whole. The tools used for statistical analyses were the Bravais–Pearson correlation margin and the χ2 test (with Yates correction). The latter was based on "yes" and "no" answers only. Between birth and 3 years of age, 57 children (80%) had been in the hospital at least once. The average number of hospitalizations was 6.8 (SD = 5.3), with an average cumulative length of stay of 194 days (SD = 178.5). During this period children underwent an average of 5.2 surgical interventions (SD = 3.8). These data show the difficult experiences the children had during the first 3 years of their lives, probably with significant consequences to their later development. Nearly half of the children (32) were diagnosed with CHARGE before the age of 2 months. The correlation between the child's present age and the age of diagnosis (n = 69, r = 0.47, P < 0.05) confirms that the younger the child, the earlier the diagnosis had been made. This implies an improvement in medical diagnosis over the years. This is a positive point, for several studies show that an important "key" in establishing appropriate management of children with CHARGE syndrome is an early diagnosis [Goldson et al., 1986; Blake et al., 1993]. Despite improvements in diagnosis of CHARGE, we suspect many individuals with CHARGE remain undiagnosed. Results from the questionnaire are summarized in Table I. Thirty-six children (51%) tended to use their left hand more often than their right and the number of left-handed people in the family did not seem to be a determining factor. Furthermore, the right ear seemed to be the better ear for 34 of the children compared to the left ear for 16, which could possibly be related to handedness. These results need further investigation, but nevertheless pose interesting neurological questions. More than half of the parents (54%) did not know whether their child could perceive smells, and 24% thought they could not. This is consistent with recent findings [Chalouhi et al., 2003] and others [Lin et al., 1990; Byerly and Pauli, 1993]. Thirty-eight children (54%) had refused to touch certain substances in the past. This situation improved as the child got older. However, 20 children still refuse to touch certain substances. It should be noted that the substances most frequently cited are those that give out unstable sensory information such as sand, water, grass or cuddly toys. Forty-four children (62%) in this study found it difficult to walk on irregular surfaces. This seems to be a consequence of vestibular troubles that are a frequent occurrence in CHARGE syndrome as demonstrated by Abadie et al. [2000]. Twenty-four children (34%) seemed insensitive to some types of pain. Correlations were calculated between this fact and the number of times the children had been hospitalized, and the length of the hospital stays. No correlation reached significance. This information, however, should be interpreted with caution, as the data are based on parent report, and so may not truly reflect the child's experience. Signs of possible hyperactivity were observed. For example 38 children (54%) seemed permanently on the move. Moreover, the association between the difficulty with waiting for something and the pleasure obtained from watching objects spinning round was significant, (χ2 (1, N = 54) = 17.5, P < 0.001). The children who had difficulty waiting liked watching objects spinning round, and inversely, those who were able to wait did not like watching objects spinning. This suggests there may be two types of children—those with and without hyperactivity. Those children with a constant need to be occupied were also those who enjoyed watching objects spinning (χ2 (1, N = 56) = 6.47, P < 0.05). Thirty-one of the children needed to be occupied and enjoyed watching objects spinning and 10 did not need to be occupied and did not enjoy watching objects spinning. Here again, two groups can be contrasted in relation to hyperactivity, but it must be emphasized that the majority of the children needed constant perceptive or movement activity. It might be interesting to link this factor to the different levels of development. Does this need for activity lessen as the capacities to think and use language develop, or does this need still exist among the children with a higher level of development? The characteristics of our sample do not allow us to answer this question. Regarding communication, only three children (4%) were capable of waiting for their turn to speak. This behavior is perhaps a consequence of dual sensory impairment, which makes it difficult to have a clear perception of the environment as a whole. This inability to wait one's turn could also reflect a problem of a more pragmatic nature, linked to a difficulty in understanding and using social rules. Indeed, 27 children (38%) had difficulty in understanding and using social rules. Moreover, there was a significant link between taking pleasure in throwing objects and the difficulty in understanding and using social rules (χ2 (1, N = 49) = 4.6, P < 0.05). This behavior was not linked to age. It would seem possible, therefore, to again categorize the children into two distinct groups: those who have difficulties with the social rules of life and those who do not. Thirty children (42%) needed reference points (temporal, visual, and tactile), particularly temporal references. We can see, therefore, how important it is to provide the child with a structured environment that allows him or her to anticipate, particularly events. This need for reference points can be also seen in the association (almost significant) found between the need to explore new places and the need to touch people. The need for reference points seems to override the respect for social rules, because a significant connection was obtained between the lack of understanding of social rules and touching other people (χ2 (1, N = 48) = 11.8, P < 0.001). In terms of cognitive skills, the need for stability in information might in part explain the very strong interest the children had for visual media such as books, photos, television, computers and graphic activities. This need for stability in information can also be found in the close link between the affinity for jig-saw puzzles and the need to put things away (χ2 (1, N = 58) = 9.7, P < 0.01). This is consistent with Raqbi et al. [2003] who found that poor vision is a predictor of low intellectual outcome. Vision provides the brain access to stable sources of information, which makes it possible to process in a coherent way receptive and expressive elements related to action on the world and interactivity. This deserves further investigation. Twenty-two of the children (31%) were reported to be affected by anxiety. A close connection existed in this sample between depression and anxiety (χ2 (1, N = 45) = 10.4, P < 0.01). Moreover, some children were reported to have aggressive behavior. Children who were aggressive toward themselves were the same children that were aggressive toward others (χ2 (1, N = 62) = 10.28, P < 0.01). A positive association was found between wanting to isolate oneself when there was more than one person present and isolating oneself when there were several children present (χ2 (1, N = 51) = 20.2, P < 0.001). In both cases, 12 children had a tendency to isolate themselves and 32 did not have this tendency. We cannot say, therefore, that all the children had a tendency to isolate themselves while in group situations, but two strongly contrasted sub-groups existed. Eleven of the children (15%) found some noises painful, but 45 (63%) did not. There was a significant link between the fear of noise and withdrawal from a large group, both when the group was children (χ2 (1, N = 47) = 9.5, P < 0.01), and when it was adults (χ2 (1, N = 47) = 10.4, P < 0.01). It should be noted, however, that this difficulty only affected a minority of the children (six or seven). It would be interesting to look at what types of noises cause the child to withdraw. Is it the noise itself, or the cacophony of noise made by groups of people? This is very important because if noise causes real discomfort in some children, social isolation may not be linked to the social difficulties themselves, but to the simple fact that groups are always noisier than people one-on-one. Nearly two-thirds of the children (63%) preferred one-on-one relationships. Thirty of the children (42%) preferred to be with adults rather than children. Moreover, the preference for one-on-one relationships was significantly linked to the preference for being with adults (χ2 (1, N = 40) = 8.8, P < 0.01). There was a contrast, then, between the larger group (25 children) who preferred a dual relationship and being with adults, and the smaller group (six children) who preferred the group relationship with children. This result suggests a common need for a supervisory relationship and the support of an adult. A large proportion of the children (59%) did not seem to be capable of dealing with complex information (involving several sources). They needed time and repetition. This may be due in part to the sensory difficulties, but other factors might also be involved such as delays in relation to other children of the same age with regard to the cognitive handling of social relationships and affective dependence linked to the difficulties encountered at the beginning of the child's life or cognitive dependence. It is interesting to note that although most of the children preferred one-on-one situations, only a minority of the children isolated themselves from noise and from groups. So a distinction must be made between seeking isolation due to discomfort, and seeking a one-on-one relationship which is felt to be more efficient and easier when it comes to social interaction. The children were variable in their interests. Most liked books and television, while drawing and puzzles were less popular. Problems with motor skills might be associated with the lower number of likes for these latter items. These results should be treated with caution, but nevertheless open up some interesting paths for further research. The data are consistent with the results of other studies: the great number of hospitalizations between birth and 3 years of age, vestibular problems, social and communicative problems, the need for reference points and the interest in visual media. In many areas, a bimodal distribution seems to emerge. Equal numbers of children appear to be right-handed and left-handed. Other distinctions with nearly equal numbers in each group included insensitivity to some types of pain, the difficulty understanding and using social rules, and hyperactivity. Additional studies are needed to establish whether two different profiles truly exist, or whether these contrasts are due to some other factor (such as age, for example). Variability seems to be a major hallmark of CHARGE syndrome. Finally, because of this variability, it is important to not lose sight of those children who were in the minority on some features. For example, a minority of the children refused to touch some substances. The same goes for anxiety, isolation in group situations, painful noises, the preference for group relationships, and the preference for being with other children. From these data, it is difficult to confirm two distinct profiles, but it would be interesting to study the factors involved in these differences. In conclusion, this questionnaire is only the beginning of the research. We must be very cautious with the results because they only represent a sample group of 71 children and young adults. This research should be considered exploratory and not definitive. It would be interesting to study a more homogenous sample, distinguishing between the different age groups (particularly the group of young adults) and increasing the total number of participants, and including a control group to help identify responses to the items that may be unique to CHARGE. Obviously, children with CHARGE syndrome differ from each other, but there are common challenges. The biggest challenge is to process information through a distorted multisensory system. They can reach coherence in the sensory experience only if they manage to establish a compromise between various constraints, including visual field, postural control, and motor efficiency. Often these lead to "strange" behaviors or body positions. These individuals have to fight every minute to keep track of what is happening around them. A sensation of tiredness is often described by those adults who are able to communicate their feelings. Often, the behaviors are just a way to make the most of themselves and their environment. The behaviors are often misinterpreted because the human beings around them are not aware of and sensitive to the challenges faced by individuals with CHARGE. It is incumbent upon us to learn about CHARGE syndrome not only from research and studies, but also, in a parallel way, from the daily contact with each individual. Children with CHARGE must not be left to cope alone with the constraints on their lives. They need assistance leaning to access events in the world and human relationships. Without appropriate assistance, they may limit themselves to the competencies they have mastered, instead of exploring new possibilities for their development. These strange behaviors may lead to inaccurate diagnoses of autism, cognitive delays, or psychosis. Such diagnoses often look like self-fulfilling prophecies. Children with CHARGE need very competent partners in their lives, and this study suggests that they value the one-on-one contact with adults that is, often, the best context for full mutual adaptation. The sensory and communicative development of persons with CHARGE is heavily dependant on the quality of their social experiences. Good partners will help them make the most of their competencies. This includes providing a coherent multi-sensory flow, coordinated with the emotional dynamics, and integrating a variety of inputs: voice, gestures, tactile, vocal and visual body mimetics, and tactile or graphic support systems. This is not possible without being sensitive to the child's expressions. All who are in contact with persons with CHARGE need to adapt to each child's communicative development. They need to help establish the most favorable social contexts for making the most of their communicative competencies and enriching their social lives. This pilot investigation provides us with a description of behaviors that can be observed in a significant number of children with CHARGE syndrome. However, it also raises at least two additional questions. First, are these behaviors uniquely related to CHARGE? The use of a control group in future studies would help to answer this question; however, we must not forget that there is still significant intra-group variability with CHARGE. Second, the observed behaviors (especially those related to social competencies) can also result from a lack of adequacy of adaptation between children and caretakers. Thus the focus of future research should be directed at interactive/dialogical patterns and their possible distortions. A suggestion for this would be to develop clinical procedures (for instance based on video-analysis) aimed at identifying the conditions under which inadequate behaviors disappear and productive ones emerge. This method would require the observation of how variations in the partners' dialogical behaviors affect the way children demonstrate and evolve potential competencies. It would provide us with a better knowledge of the global communicative system and help identify the parameters of the interaction systems that affect the development of these children. We thank all the parents who took part in this study and all the professionals who helped to draw up the questionnaire.