J Med Genet 1999;36:615–620 615 Carrier testing of children for two X linked J Med Genet: first published as 10.1136/jmg.36.8.615 on 1 August 1999. Downloaded from diseases in a family based setting: a retrospective long term psychosocial evaluation Outi Järvinen, Anna-Mari Aalto, Anna-Elina Lehesjoki, Mikael Lindlöf, Ismo Söderling, Antti Uutela, Helena Kääriäinen Abstract ing children. Advantages include creating The question of whether genetic carrier opportunities for children to adjust to their testing should be performed on children situations, fostering of openness within fami- has been the subject of much debate. lies, relief of parental uncertainty, and compre- However, one important element has been hensiveness of family testing. Disadvantages lacking from this debate. There has been include possible harm to a child’s self-esteem, practically no knowledge of how those distortion of family perception of a child, and tested in childhood have experienced car- deprivation of choice in adulthood of deciding rier testing. Twenty three subjects in whether to be tested.2 No data have been avail- families aVected by Duchenne muscular able about how those tested in childhood have dystrophy and 23 in families aVected by reacted to the experience. haemophilia A, all of whom had been There have been several studies of the tested during childhood for carriership in psychosocial consequences of carrier testing of the Department of Medical Genetics, Uni- adult family members, and of population versity of Helsinki, from 1984 to 1988, par- screening for carriers of recessive diseases, such The Family Federation ticipated in our study. We investigated as cystic fibrosis,3–7 Tay-Sachs disease,89 â of Finland, long term psychosocial consequences of thalassaemia,10 and sickle cell trait.11 No serious Department of carrier testing in childhood. A question- adverse eVects have been found in the studies Medical Genetics, PO naire relating to sociodemographic back- Box 849, FIN-00101 cited, but various degrees of anxiety have been Helsinki, Finland ground and life situation was used, found to be associated initially with detection O Järvinen together with assessment of health related of carriership. Anxiety mostly seems to decline H Kääriäinen quality of life (HRQOL) using the RAND with time.347Some carriers have been found to 36 item Health Survey 1.0 (RAND). RAND have less positive feelings about themselves,5 or STAKES, Health results showed that the emotional, social, their current health,6 and less optimistic views Services Research 9 Unit, Helsinki, Finland and physical well being of the young about future health than non-carriers. In a http://jmg.bmj.com/ A-M Aalto female subjects was not statistically diVer- study of experience of carrier testing for X ent from those of control female subjects linked disorders in adulthood, non-carriers Department of at a similar age. We also found no statisti- were found to feel emotional relief, but carriers Medical Genetics, cally significant diVerences in means in felt sadness and loss of reproductive University of Helsinki, any RAND dimension (p<0.146) between 12 Helsinki, Finland expectations. A-E Lehesjoki carriers, non-carriers, and a group in There have been very few studies of the psy- which carrier status was uncertain. How- chosocial consequences of carrier testing or Folkhälsan Institute of ever, two out of seven carriers reported screening during adolescence.13 16 In two, carri- on September 23, 2021 by guest. Protected copyright. Genetics, Helsinki, that they were worried and three that they ers were initially found to experience anxiety, Finland were slightly worried about the test result. 13 16 A-E Lehesjoki which declined with time. However, pro- Four out of 22 young female subjects in the longed worry about carrier status and regret at Helsinki University uncertain group reported being worried having been tested have also been reported.14 Central Hospital, and 11 reported being slightly worried. Only one report of the psychosocial conse- HD-Laboratories, (J Med Genet 1999;36:615–620) quences of genetic carrier testing in childhood Division of Medical has been published. It concerns retrospective Genetics, Helsinki, Keywords: carrier testing in childhood; health related Finland quality of life; psychosocial consequences; RAND evaluation of testing of carriers of balanced M Lindlöf chromosomal rearrangements through inter- view of members of 10 nuclear families. Learn- The Population When a child is diagnosed as suVering from a ing about carrier status had caused transient Research Institute, hereditary disease, its parents usually want to psychological disruption, accompanied by feel- Helsinki, Finland 1 17 I Söderling know about the carrier status of healthy sibs. It ings of unjustified stigmatisation. The results has been, and probably still is, common of this study and of studies in which carrier National Public Health practice to test sibs for possible carriership.2 testing was evaluated during adolescence Institute Finland, The British Working Party of the Clinical suggest that testing causes no serious distress Helsinki, Finland Genetics Society has suggested that the carrier or clinically important levels of anxiety. A Uutela status of children should not be determined More information about the consequences Correspondence to: solely in relation to possible future of genetic testing in childhood is obviously Dr Järvinen. reproduction.2 This suggestion has been fol- needed. The aim of our study was to determine lowed in Finland and, presumably, adopted in whether there had been any long term psycho- Received 27 August 1998 Revised version accepted for most western countries. However, justifications social consequences of carrier testing per- publication 22 March 1999 can be advanced for both testing and not test- formed eight to 12 years previously in female 616 Järvinen, Aalto, Lehesjoki, et al Table 1 Numbers and age at testing of children in families the case of HB. The young female subjects aVected by Duchenne muscular dystrophy and haemophilia tested were sisters or cousins of aVected males. J Med Genet: first published as 10.1136/jmg.36.8.615 on 1 August 1999. Downloaded from A who responded Age at the time of testing ranged from 1 to 17 Age at testing (y) DMD Haemophilia Total years. Of the 66 young females who were over 15 years old at the time of our study, 46 5–6 3 2 5 7–8 5 2 7 participated in the questionnaire study. Ages of 9–10 3 2 5 respondents to our questionnaire at the time of 11–12 3 4 7 carrier testing are shown in table 1. 13–14 1 6 7 15–16 4 3 7 17 4 4 8 CONTROLS Total 23 23 46 The Finnish female population of the same age was used for control purposes since infor- children and teenagers in families with X mation concerning sociodemographic charac- linked recessive diseases (Duchenne muscular teristics and health related quality of life as dystrophy (DMD) or Becker muscular dystro- measured by RAND (see Methods) from 1996 phy (BMD) and haemophilia A (HA) or B was available.24 Carriers, non-carriers, and (HB)). The main variables studied were those in whom test results had been uncertain emotional well being, social and physical func- were also compared. tioning, general health, marital status, and reproductive behaviour. METHODS Contacting families Subjects and methods The parents of families were approached by DISEASES mail by the doctor who had counselled them at DMD and BMD are X linked recessive the time of testing. They were asked to inform muscular dystrophies. DMD occurs in boys their daughters about the study and ask under 5 years of age and causes progressive whether they would be willing to participate. muscle weakness, usually leading to the death The subjects tested (mostly adult at the time of of subjects in their 20s from respiratory our study) were therefore contacted only via complications. Age of onset of BMD is later their parents. A questionnaire with a reply paid and life spans are longer. Both progressive dis- return envelope was sent to daughters who eases are usually considered diYcult and consented, provided that they were at least 15 depressive for families.19 years old. If no reply had been received within HA and HB are X linked recessive bleeding six weeks, a reminder was sent. Letters and disorders. AVected subjects bruise easily and questionnaires were mailed and received back suVer joint and muscle haemorrhages, pro- between October 1996 and February 1997. longed bleeding from wounds, and excessive, Families who did not reply were subsequently sometimes fatal, haemorrhages after trauma. contacted by telephone. Improvements in the treatment of haemophilia over the past 20 years have considerably http://jmg.bmj.com/ changed the prognosis. Nevertheless, haemo- The questionnaire philia remains a chronic, often serious, The questionnaire contained some 100 ques- disease,18 and life long replacement therapy for tions, mostly multiple choice, the rest open the deficient coagulation factor is needed. ended. The first part of the questionnaire con- With X linked recessive inheritance, only sisted of items relating to sociodemographic males are aVected but female relatives can be background, life situation, and testing of health related quality of life (HRQOL) by means of carriers. Any sons of symptom-free female car- on September 23, 2021 by guest. Protected copyright. riers have a 50% chance of being aVected. It is the RAND 36 item Health Survey 1.0 25 often possible to perform genetic tests on (RAND). The multi-item RAND scale relates healthy female family members, even in child- to eight aspects of quality of life: (1) physical hood, to determinate carrier status. There are functioning, (2) role limitations related to two basic methods of studying carriership, physical health, (3) role limitations related to direct mutation testing and linkage studies. emotional problems, (4) energy/fatigue, (5) The former confirms or excludes carriership emotional well being, (6) social functioning, with certainty.