Psychological Factors in Turner Syndrome: A Review

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Psychological Factors in Turner Syndrome: A Review of the Literature a

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John O'Connor , Michael Fitzgerald & Hilary Hoey

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Trinity College Dublin

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Ballyfermot Child and Family Centre

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The National Children's Hospital Published online: 13 Nov 2012.

To cite this article: John O'Connor , Michael Fitzgerald & Hilary Hoey (1999) Psychological Factors in Turner Syndrome: A Review of the Literature, The Irish Journal of Psychology, 20:2-4, 107-123, DOI: 10.1080/03033910.1999.10558228 To link to this article: http://dx.doi.org/10.1080/03033910.1999.10558228

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The Irish Journal of Psychology, 1999,20, 2-4,107-123

Psychological factors in Turner Syndrome: A review of the literature 2


John Q'Connor', Michael Fitzgerald & Hilary Hoel Trinity College Dublin1, Ballyfermot Child and Family Centri, The National Children's Hospitar Turner syndrome, a chromosomal disorder affecting approximately 1 in 2,500 live female births, is associated with anomalies in a number of areas that are normally of interest to psychologists. There is evidence that girls with Turner syndrome show particular kinds of deficits in cognitive functioning, and that these vary with karyotype. There is also evidence that the psychosocial functioning of these girls is often impaired and disrupted; research has pointed to a number of factors. related to the physical sequelae of the syndrome and to deficits in other areas, that impact on functioning in this area. The value such research has for understanding the connection between genetic make-up and human psychological functioning in general is discussed. Particular attention is paid to the issue of psychosocial development among these girls, and the kinds of influences, related to the syndrome itself and to the family's response to it, that are implicated in developments in this broad area. Finally, some issues for further research are considered.

Turner syndrome has been recognised for some time. Athough its features were first alluded to by Morgano over two centuries ago, in 1762, our understanding of the exact parameters of the syndrome have been more precisely marked out only in recent decades. Garron, Branda and Lindsten (1978) report an early description of a case of Turner syndrome made by Pearls in 1805, in which all of the features we have come to recognise as constituting Turner syndrome were described. The syndrome, like many others, has only been studied scientifically since it was given a name, and when its symptoms and place in the nomenclature were established and described. It was Henry Turner in 1938 who gave the syndrome its name and who wrote what has become the definitive paper on the syndrome. OUo Ullrich described cases of girls later designated as Turner girls. For this reason, and because of his wider contributions to the understanding of this Correspondence address: John O'Connor, Department of Psychology, Aras an Phiarsaigh. Trinity College, Dublin 1


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chromosomal disorder, the syndrome is referred to in most German writings as Ullrich-Turner Syndrome. The history of the unfolding of our knowledge of the medical factors involved in Turner syndrome shows a steady expansion in knowledge. After Turner and Ullrich gave their names to the condition, Albright, Smith and Fraser (1942) and Vamey ,Kenyon and Koch (1942) reported many other cases of the syndrome. Wilkins and Aeischmann (1944) reported the earliest findings on the ovarian pathology involved in Turner syndrome. Recognising the importance of this discovery, they proposed the name 'ovarian agenesis' to describe the syndrome. The term 'syndrome' is appropriate to describe this condition because it involves a whole range of characteristics.

Epidemiology Turner syndrome is estimated to have an incidence of 1 in 2,500 births, though the estimates of incidence over the years have varied somewhat (Hook & Warburton, 1983). In some earlier research, the estimate given was lower, at approximately 1 in 3,000. Some researchers now believe that an estimate of I in 2,500 is conservative and that I in 2,000 represents a more accurate estimate. The manifest physical anomalies associated with Turner syndrome, including an inborn distinctive edema of the dorsum of hands and feet, arouse suspicion as to the presence of a chromosomal anomaly and this increases the probability of early diagnosis. Though normal status and sexual functioning cannot be achieved, a great deal can be done to make the lives of such girls as normal as possible. The initial uniform picture of Turner is somewhat complicated by the discovery of a number of forms of the syndrome involving different karyotype anomalies. Turner syndrome exists in classic and variant forms. In some cases, all cells of the body lack the second X chromosome; in other cases, there is a mosaicism in which some cells lack a second X chromosome, while some possess the normal chromosomal complement; in yet other cases, structural variations are present in the second X chromosome, while the normal chromosomal complement remains unchanged. The research at present suggests that approximately 60% of all cases of Turner syndrome are of the classic variety - 100% of the body cells being of the distinctive 45,XO karyotype. The next highest is the mosaic karyotyping of 45,XO and 46,XX. Other karyotypic variations include the following: 45,XO/46,xx; 45,X0/47 ,XXX; 46,X,l(Xq). Associated physical anomalies A number of physical anomalies are associated with Turner syndrome. The most important features are shortness of stature and lack of ovarian

Psychological factors in Turner Syndrome

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maturation (which leads to infertility). A number of the most important features associated with a diagnosis of Turner syndrome are also important. including low birth weight (Bernasconi. Larizza. Benzo. Volla et al .• 1994), short stature (Holl, Kunze, Etzrodt, Teller et al., 1994; Palmer & Reichmann, 1976~ Park, Bailey & Cowell, 1983), and gonadal dysgenesis (Holl et al., 1994). The psychological impact of these features is examined in a number of sections below.

Cognitive functioning It has been well established that sex chromosomal anomalies tend to be associated with deviations from the normal profile of cognitive functioning~ this conclusion has been reached with regard to all of the more widely researched and frequently occurring anomalies. Interestingly. the research suggests that all of the major anomalies from the normal XX and XY chromosomal complement, namely Turner syndrome (45,XQ and related karyotypes), Klinefelter syndrome (47 ,XXY). Triple-X syndrome (47 ,XXX) and Huntington's Chorea (47, XYY), are associated with declining IQ's, either in overall IQ or in one of the two major domains normally demarcated (namely performance IQ and verbal IQ). The idea that Turner syndrome involves a very high risk of mental handicap or of below normal intellectual functioning has not been supported in the data obtained to date. These data suggest that Turner syndrome does not necessarily lead to a major depression in intellectual functioning; most importantly, this research has shown that Turner syndrome is not associated with high rates oflearning disability. For instance, Nielsen et al. (1973) found that only 2 of 25 subjects with Turner syndrome had a learning disability. while Garron (1973) found that there was no increased prevalence of severe or moderate levels of learning disabilities. Table 1 below indicates the specific trends in relation to each of the major chromosomal anomalies. In Turner syndrome. as the table indicates. the tendency is for overall and verbal functioning to remain at a normal level. while there is a depression, often quite small. in the performance domain. On the basis of a good deal of research. this observation of a verbal-performance discrepancy has been confirmed internationally (Downey et al .• 1991; Murphy et al .• 1993; Netley & Rovet, 1982; Penningtonetal., 1985; Reiss etal., 1993; Schaffer, 1962; Temple & Carney, 1993). Further research has also indicated that certain kinds of cognitive abilities are typically affected in Turner syndrome. These are commonly described as visuospatial abilities. Research has recently indicated that deficits in visuospatial working memory play an important role in diminishing such abilities in Turner girls (Buchanan et al., 1998a, 1998b). Included among the areas of specific


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Table 1. Overall trends in cognitive functioning across the most prevalent chromosomal anomalies


Sex Chromosomal Anomaly (with karyotype) • Turner Syndrome (45,XO)

• Klinefelter Syndrome (47, XXV)

• Triple-X Syndrome (47,XXX)

• XYY Syndrome (47,XYY)

Overall 1.Q.

Verball.Q.

Performance 1.Q.

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deficit have been the following: memory for visual, auditory and tactual data (Gabrieli et al., 1985), arithmetic (Temple & Marriott. 1998), attention (Romans et al., 1997). In recent years, the more specific influences on cognitive functioning of the various karyotypes, recognised as making up Turner syndrome, have been analysed. The correlation of cytogenic and psychological data has thrown light on the role of X and Y chromosomes on cognitive functioning in general. For instance, examinations of the influence of the parental source of the missing X chromosome in Turner syndrome have yielded important data. A study conducted by Skuse et al. (1997) provides some evidence that when the remaining X chromosome was paternally derived. scores on certain indices of cognitive functioning were elevated as compared to when the X chromosome was maternally derived. A number of alternative constructions have been put forward to explain the meaning of these findings (Benn & Zang, 1997). This research has contributed to current and developing thinking on human sexual dimorphism; it has contributed to the expectation that specific genes responsible for various aspects of cognitive functioning will soon be identified (McGuffin & Scourfield, 1997). Allied to research on the cognitive functioning of Turner girls is neuropsychological research wnich attempts to establish whether any



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specific and detectable deviations appear at the level of brain functioning. This research has been stimulated by the consistent discrepancy between verbal and performance functioning reported, and the hypothesis that this must reflect an anomaly at a physical rather than environmental level. Research in this area is still at an early stage though there is evidence that Turner syndrome is associated with deviations from normal cortical organisation (Shucard et al., 1992). For example, there is some evidence that the tempero-parietal areas of the right hemisphere are implicated in the deficits appearing in the cognitive functioning of these girls. (Reske-Nielsen, Christens en & Nielsen, 1982). However, studies that attempted to identify particular focal anomalies have not successfully done so (McGlone, 1985). Research in this area is benefitting from the availability of new methods of investigation that allow the functioning of very specific areas of the brain to be examined. For instance, neuroimaging has made possible the identification of the brain processes that are affected in Turner syndrome (Reiss & Denckla, 1996). It has been possible also to recognise the significance of neuronal abnormalities in the association neocortex to functioning in Turner syndrome (Murphy et al., 1997), though research of this kind does not always present conclusive results (Elliot et al., 1996).

Turner syndrome and sensitivity to mental illness There is little evidence that mental disorders recognised in DSM-IV or ICO-IO appear disproportionately among girls with Turner syndrome. However, in much of the early literature, there was a good deal of comment on the possible psychopathological correlates of the syndrome. It is clear thatthis expectation is still present. For instance, Panzer and Tandon (1991) suggested that bipolar disorder may be quite prevalent among girls with Turner syndrome. Also, some attention was given to the idea that Turner syndrome is connected with higher levels of neurosis and psychosis. Isolated cases of mental illness among girls and women with Turner syndrome have appeared in the literature. For instance, Bamrah and Mackay (1989) described a case of chronic psychosis in a 59 year old woman with Turner syndrome. Research in this area is certainly not conclusive; further research may clarify the true rates of mental disorders among this group and may indicate the factors that are implicated in the development of such disorders. It now appears, following the limited research that has been conducted to date, that there are no higher levels of mental illness among Turner girls than in the population in general. Indeed, some research suggests that, on some dimensions of mental health, Turner girls/women score more favourably than would be expected from general population parameters. Downey et al. (1987) found that Turner women, as compared to


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women with constitutional short stature and siblings of the Turner women, showed a lower level of mental disorder and only comparable rates of psychiatric symptoms. The Turner women, however, showed lower overall psychological health and a higher level of impairment in social functioning. It seems from the findings of these studies that short stature interacts with other factors in influencing problems in psychological and psychosocial development rather than itself determining these in isolation. Though research has not indicated that mental illness is more prevalent among Turner girls than in the normal population, there is some evidence for elevated levels of behaviour problems among these girls at sensitive points in their development. For instance, Holl et al. (1994) found that girls with Turner syndrome, in the child and adolescent periods of development, have significantly more behaviour problems than matched short stature girls. The evidence available from this study does not however indicate the kinds of factors that may effect such behaviour problems in this group. There is some level of disagreement within the literature as to whether girls with Turner syndrome have an increased likelihood of experiencing high levels of stress and anxiety. Though there was some early evidence of elevated levels of stress in this popUlation, more recent findings do not support this conclusion. It is possible that Turner girls may have a facility for dealing with stress because of adaptation to the multiple stressors that have appeared so early in life. Chronic response to stress may also be less of a problem for this group because external levels of expectation and demand may be small; this is likely to be the case, particularly when there are very high levels of protection (or the kind of familial 'overprotection' so frequently mentioned in the literature). This overprotection is associated with lowered expectations in some instances and can have profound consequences for the cognitive and social development of these girls. When one is not expected to perform at a high level cognitively, little demand is placed on the person to strive beyond their current understanding. Because levels of expectation may have been low from the early years, it is less likely that a Turner girl will experience the other factor which occasions stress, namely internal demand. It may also be the case that this kind of hypothesised dynamic involving low expectation on levels of arousal, stress and activity may be case specific rather than pervasive among this popUlation. Psychosocial functioning in general Few studies have specifically examined psycho-social factors among Turner girls. Most of these have indicated that girls with Turner syndrome have a range of psychosocial difficulties. Among these, the most important



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and influential has been that of McCauley et al. (1987) who examined psycho-social functioning in girls with Turner syndrome and short stature between the ages of 9 to 17 years. Basing their findings on the reports of parents, teachers and the girls themselves, McCauley et al. highlighted difficulties arising in the domains of peer relationships, number of friends, and responsiveness to social cues. The authors suggested that disturbances in social relations in Turner girls is a result primarily of delayed sexual maturation, physical anomalies and cortical functioning. Following a study carried out some years later, Swillen et al. (1993) noted that the Turner subjects had shown problems in social development from the primary school years. Not all studies, however, have indicated that Turner girls are less adequate socially and emotionally because of their condition. In their very extensive survey of North American Turner girls, Orten and Orten (1992) found that about ten percent of the adult subjects surveyed reported feeling unhappy often. Almost eighty five percent of the women reported positive affect usually or nearly always. These researchers suggested that the findings ofMcCauley et al. did not reflect the actual state of affairs, that the findings were influenced by the kinds of instruments they used. This criticism does not seem justified and it may well be that Orten and Orten's study lacked the kind of rigorous questioning that the earlier study had employed. It is also notable that no control group was used. It may well be that the manner in which questions were stated were such as to influence the character of responses given. But this could not be determined without the use of a control population. The literature provides some hints as to why psychosocial difficulties arise for girls with Turner syndrome. The suggestion that psychosocial deficits may be secondary to cognitive deficits has received very little attention. However, there is a small amount of evidence to suggest that Turner girls are not as skilled in discriminating non-verbal language cues and differentiating between them compared to normal girls. For instance, McCauley et al. (1987) found that Turner subjects were "less accurate at inferring facial affect". This may well be due to the fact that Turner girls generally have less social contact, and thus have fewer opportunities to become fluent, as it were, in the language of social engagement. It is arguable that certain aspects of the experience of these girls may contribute to such deficits. For instance, it may be argued that interpersonal difficulties and weaknesses in social processing seen among Turner's girls are indicative of aspects of their socialistion process. It would seem, however, that this variation in socialisation would not provide sufficient grounds for expecting such basic deficits in functioning. Much remains to be clarified with regard to this question; in particular, we need to clarify the exact nature of these deficits, how general they are as a feature of the profile of Turner

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girls, and the specific impact which family and school systems have on this developmental process. Of course, we must also establish the extent to which these kinds of difficulties are secondary to primary processing deficits, that have a cognitive, and ultimately neurological basis.


Short stature, body self-concept and eating disorders Short stature is certainly the most obvious, and among the most important, physical features of Turner syndrome. Skuse (1987) discussed the effects of being small on the development of the child. He drew attention to how size is connected with perceived age - being smaller determined being thought to be, and thus treated as, younger. The problem with being small is a problem of adaptation in a world where others are predominantly larger, and where this latter group stigmatises short stature and naively correlates it with retardation in cognitive, social, interpersonal and sexual domains. It is a problem of adapting to the awareness of difference, of being misunderstood, of having to come to terms with the disadvantaged social situation that may emerge as a result of the perceptions and reactions of others. Without intervention, there is no growth spurt in the adolescent development of Turner girls. Growth spurt in adolescence is a marker of more general change: it signals to adults that other changes are occurring which occasion a changing orientation to the person concerned. As Erik Erikson (1968) pointed out in his landmark studies of adolescence, it is the physical changes of adolescence that act as a spur to the distinctive and important developments of this time in the area of psychosocial development. Changes in body shape, including the growth spurt, brings the person to the experience of being neither a child nor an adult. The growth spurt heightens the sense of this period being a moratorium in development, in which there is a level of uncertainty, as well as a challenge. There is a good deal of evidence in the literature that short stature impacts on the psychological and psychosocial development of groups other than Turner girls. (Csapo, 1991; Holmes et al., 1985; Moneymaker, 1989; Peri et al., 1984) These studies have indicated that short stature is generally associated with elevated levels of psychosocial difficulties. Among children with hormone deficiencies, research suggests that difficulties arise for these young people due to short stature more so than to other factors (e.g. Abbott, Rothem, Genel & Cohen, 1982; AlIen, Warzak, Gregor & BernoIas, 1993; Sartorio, Peri, Molinari and Grugoi, 1986). Great attention has been given in the literature on Turner syndrome to its association with eating disorders, and predominantly anorexia nervosa (Brinch & Manthorpe, 1987; Darby et al., 1981; Dougherty et al., 1983; Larocca, 1985; Taipale, Niitymacki & Nevelainen, 1982; Muhs & Lieberz, 1993). Researchers have speculated as to why anorexia appears as



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it does among these girls. In their review of 14 cases with concurrent Turner syndrome and anorexia nervosa, Muhs and Lieberz (1993) drew attention to the links between the onset of anorexia and the commencement of hormonal treatment. They indicated, however, that there is also strong evidence that the overall home environment played an important role in the development of anorexia nervosa in a high proportion of the cases reviewed. It is arguable that a connection exists between the prevalence of the condition in this group and specific chromosomal factors; this has not been addressed in the literature to date. However, the alternative hypothesis namely, that lower bodily self-esteem, resulting from the real physical indices associated with the syndrome, centrally influences high rates of eating disorders - also appears valid. In recent years, there has been great awareness of the connection between emotional states and self-concept; attention, in particular, has been given to the area of physical self-concept. There is evidence from work with other groups to support the hypothesis that short stature is associated with increased likelihood of developing anorexia nervosa (Brinch & Manthorpe, 1987). A number of case studies have appeared in the literature supporting this link (Larocca, 1985). The concurrence of Turner syndrome and anorexia nervosa has also been interpreted as relating to the difficulties in accepting feelings associated with maturation (Taipale et al., 1982).

Life cycle variations in psycho-social functioning It is important to note that Turner syndrome does not necessarily lead to a shortening oflife; women with the 45,XO, and other constituentkaryotypes may have a normal life span. As with many conditions, there is evidence to suggest that Turner syndrome impacts on the social behaviour of the person in different ways at different stages in the life cycle. For example, Rolmes, Karlsson and Thomson (1985) in a longitudinal study found that parentestimated social competence varied from childhood, through early adolescence to late adolescence and underwent an interesting development. While in childhood and late adolescence, parents reported age-appropriate functioning. the intermediate period (between 12 and 14 years) was reported to be marked with poorer adjustment. "Evaluation of social competence scores suggested that large organized group activities were avoided. although Ss had close friends with whom they interacted regularly" (p. 263). It is difficult to estimate the extent to which these difficulties reflect the normal state of adolescent turbulence or abnonnal development in this area. Difficulties in social development may evolve over the lifetime of the person; the particular stresses that attend the different stages in development place pressures which are likely to impact on development in very


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different ways at different times. Orten and Orten (1992) conducted an extensive study in the US of 242 adult women with Turner syndrome. examining the broad areas of educational achievement, occupational status, and personal happiness. These authors concluded that Turner women live extremely normal lives in the main and generally overcome the difficulties that arise from having Turner syndrome. They argued, on the basis of their findings, that the received view, deriving from earlier research, that the psychosocial functioning of women with Turner syndrome is disturbed, represents an exaggeration. Orten (1990), herself a social worker with Turner syndrome, discussed the tasks of social work interventions with Turner syndrome girls as "including dealing with patients' feelings, helping patients to understand the cognitive implications, and helping families to adjust" (p. 100). Because of the fact that these women can expect to live into old age, they are also subject to the kinds of developments that occur during the different stages of psychosocial development. With these different stages, different aspects of Turner syndrome are likely to assume particular significance in the consciousness of these women. Some research has directed itself toward the changes in identity and experience that occur over time among Turner women. For instance, and interestingly, Sylven, Magnusson, Gagenfe\dt and Von Scoultz (1993) found, following interviews with 2 I middle aged women with Turner syndrome, that during adolescence they experienced strong feelings of inferiority and grief. Adolescence, of course, is a time when particular pressures arise, and when new priorities take centre-stage. It is a time when the body becomes an important focus of attention and relationships, and the lack of relationships, become very real issues. Libido and sex-role identity In a study comparing the gender role development of women with Turner syndrome and constitutional short stature, Downey, Ehrhardt, Morishima and Ben (1987) found that Turner women tended to show higher levels of stereotypic feminine behaviour from childhood through to adulthood. The authors suggested that this may be due to a range of factors including endocrine, psycho-social and cortical. A number of authors and researchers have noted the tendency of Turner girls to adopt a passive position in relation to others. This is reflected in a number of recent reports. Loughlin (1993) noted that particular difficulties for teenage Turner girls appeared in the domain of assertiveness (as well as decision making) within a group dance task. There is some evidence to suggest that dependency may persist more consistently among Turner women than among other women. Calo et al.



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(1993) investigating social integration among adults with Turner syndrome found that 90% of the subjects were unmarried, the majority of these, over 80%, living with their parents. "In the light of these findings, it is apparent that efficacious medical and psychological strategies should be developed to enable a greater realization of interpersonal relations in the familial and social fields" (p. 247). There is no real data concerning the aspect of dependence among a childhood population of Turner girls. It seems adult dependence must have its origins in an earlier dependence on the environment - a dependence that reflects the reliance on parental figures to a great extent.

Interpersonal and sexual relations There has been a suggestion that girls with Turner syndrome differ from normal girls in their libido investment. Raboch et al. (1987) in a study carried out in the former Czechoslovakia found that Turner syndrome women (as well as women with pure gonadal dysgenesis) reported "a lower sexual desire, a reduced orgastic capacity, and a weaker sexual activity" when compared to fertile persons. Authors have viewed Turner syndrome with interest because of the data it may provide with regard to the determination of sexual orientation. (Goodman, 1983) It is difficult to determine the extent to which research on Turner syndrome has to date contributed to understanding in this area, and the extent to which expectations have impacted on what has been recorded. The early authors on Turner syndrome tended to view those effected as 'genetically male' . For instance, Garron and Vander Stoep (1969) wrote: ''The inference that persons with Turner syndrome are "genetic males" came about when Barr and Bertram noted that cells from normal female mammals has a mass at the edge ofthe nucleus (chromatin positive), while cells from normal males do not (chromatin negative). It was then found that some persons with Turner syndrome are chromatin negative, as are normal males" (p. 340). Some early studies seemed to point to definite differences between the gender identities of Turner girls and normal matched controls. The difficulty in tracing the meaning of these differences is one that has proved more difficult. Cohen (1962) found that Turner girls failed to place feminine contours on figure drawings. Most of the early research on the gender identity of Turner girls was stimulated in part by the belief that the absence of a second X chromosome would lead to a gender neutering or to the reduction in the frequency of feminine behaviours - that the identity of these girls would be neither male nor female in their behavioural phenotype. However, research has indicated that feminine gender identity and gender specific behaviours are not influenced by the absence of the second X chromosome (Downey et al., 1987).


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Disturbances existing in peer relationships were highlighted by a study carried out in Canada, Denmark and Hungary by Nielsen and Stradiot (1987). These researchers found that in a sample of III Turner girls, aged between 17 and 30 years, 20% did not answer questions relating to peer relationships, while 16% reported having no friends. The literature on interpersonal relationships among persons with Turner syndrome clearly indicates the tendency of these to occur later than in the population as a whole - they begin to date later, they have their first sexual experience later, and have an overall lower rate of sexual activity than their peers in general (e.g. Calo et al., 1993). It seems reasonable to conclude that the prolonged dependence on their families is implicated in the inability of these girls to develop interpersonal relationships and establish family lives outside of home. Future research: Some ongoing areas of inquiry It is clear that a number of trajectories of research on Turner syndrome have been established and that research in the future will see progressive developments along each of these paths. A number of areas remain to be examined in detail; it may well be that these areas are quite difficult to pursue within the ethical guidelines that rightly apply to such research. i. Impact of infertility: Surprisingly little research has been conducted into the impact of infertility on the psychological development of girls with Turner syndrome. In a sense, it is widely accepted that this is a particularly important issue for women with Turner syndrome because it places a limit on their abilities in a very important area. ii. Impact of medical interventions: It seems likely, based on research in other areas, that the fact of being treated in a hospital on an intermittent and ongoing basis has an impact on the manner in which these girls understand themselves. In recent years, advances in the area of growth hormone treatment have offered a great deal to these girls in terms of normalising or adjusting physical stature toward the normal range. However, since these treatments are very new indeed. it has been difficult to assess the impact of growth hormone treatment on psychosocial development beyond its immediate influences. The examination of some of the initial literature in this area appears to indicate that growth hormone treatments may play a positive role in enhancing psychosocial development; the evidence suggests that it does so by increasing the level of physical self regard, and in turn the wider domains of self-esteem and self-concept. When the data available are examined, the picture created is not entirely clear. Rovet and Ireland (1994) found a positive correlation between growth rate among girls with Turner syndrome following treatment with human growth hormone and subjects' self-perceptions in the areas of intelligence. personal attractiveness and



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social involvement. However, in another study carried out the same year examining the effect of hormone treatment with the same popUlation, Huisman et al. (1993) found no changes in self-concept, social anxiety and behavioural problems. Taken together, these findings may be viewed as contradicting each other if we assume that the indices of psychosocial functioning are similar or are correlated; if, on the other hand, we recognise these as separate and separable aspects of this domain, we may view these findings as contributing something about the specificity of impact which growth hormone treatment has on psychosocial functioning. In relation to the effects of hormone treatment on cognitive indices, Swillen et al. (1993) found that this form of treatment had a positive influence on visuospatial functioning. iii. Family relations: Within a systems understanding of personal development, it is not possible to view the person without taking into account the kinds of developments that are occurring in the family. The findings of international studies do not appear to point to any particular set of effects, though very little research has oriented itself specifically to this issue. In quite a general way, there is some evidence to suggest that having a sibling with a disability impacts very strongly on siblings and thus on the whole family atmosphere. Future research may examine the manner in which families process a diagnosis of Turner syndrome and how this influences the family's response to its member with the chromosomal anomaly.

Conclusion The literature to date throws some light on the functioning of Turner girls in the domains of social interaction, cognitive abilities and development, as well as in the physical domain. The most striking finding, as this paper has underlined, is the great variability in the phenotype of these girls. The anomalies in the various domains of psychological functioning are not consistent across the group as a whole. This general finding suggests that the social functioning of these girls is not dictated solely by their chromosomal complement, but is rather impacted on by environmental factors. It appears likely that the more positive the experience the child has, the more likely she is to avoid the features that disturb her psychosocial functioning. At the level of clinical intervention, the research provides useful guides to the practitioner. Firstly, and most importantly, it confirms that psychological difficulties do not necessarily attend the syndrome. Secondly, it indicates those domains in which difficulties may arise which may help the clinician to develop appropriate hypotheses in order to inform intervention.


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