Aims To establish the incidence and clinical associations of acute pancreatitis (AP) in children ... more Aims To establish the incidence and clinical associations of acute pancreatitis (AP) in children aged 0-14 years in the UK. Methods Monthly surveillance of new cases of AP in children under 15 years of age through the British Paediatric Surveillance Unit. Results A total of 94 cases (48 boys and 46 girls) of AP, clinician-diagnosed from April 2013 to April 2014, fulfilled the diagnostic criteria. The median age of diagnosis was 11.2 years (range 1.30-14.89 years). White children accounted for 60% of cases compared to 40% from ethnic minorities (71% Asian and 13% Black). Pakistani children alone made up 19% of the cohort. The reported incidence of AP in children under age 15 in the UK was 0.78 per 100,000 (95% CI 0.62-0.96). Of the 94 cases: 36 (38%) were idiopathic, drugs 18 (19%), gallstones 12 (13%), hereditary 7 (7.5%), organic acidaemia 7 (7.5%), anatomical anomalies 4 (4%), viral infections 3 (3%), vasculitis 3 (3%), trauma 1 (1%) and others 3 (3%). The most common drug associations were asparaginase (28%), azathioprine (17%) and sodium valproate (17%). Of the 12 gallstone-associated cases, 5 were boys; body weight of 5 cases were above the 91st centile (4 were above the 98th centile). Overall, 6 of 7 organic acidaemia cases (86%) and 3 of 5 asparaginase-associated cases (60%) were of Pakistani ethnicity. Conclusion This is the first estimate of incidence of AP in children in the UK. In children, AP is associated with a wide variety of potential aetiologies and more than one third of cases have no cause identified. The associations of AP have changed significantly since the 1970/80s. Drug therapy and gallstones are now the commonest associations, whilst trauma and mumps have become uncommon. Children from some ethnic minorities are greatly over-represented, which possibly reflect the greater frequency of inborn errors of metabolism in some ethnicities. However the over-representation of asparaginase associated AP in Pakistani children merits further investigation.
Aims The study aims were to 1) assess the feasibility, acceptability and effectiveness of a new m... more Aims The study aims were to 1) assess the feasibility, acceptability and effectiveness of a new model of centralized health service provision (the CSAservice) for children under 13 years disclosing recent child sexual abuse (CSA) and 2) evaluate non-offending carer’s views of how effectively multi-agency services address the needs of these children and their carers. The CSAservice was developed according to Childhouse principles after a review of regional CSA health pathways showed they were poorly understood with unacceptably variable provision of physical and mental health follow-up. The new model provides increased access to initial holistic medical assessment, medical follow-up and bridging mental health assessment and treatment. Family advocacy support is provided throughout. Method A prospective mixed methods cohort study of under 13 year olds attending the CSAservice within 3 weeks of sexual assault. Routinely collected quantitative data include demographic, health and abuse-related information and service evaluation forms for both carers and children. Participating carers underwent a telephone interview 6–12 months after attending and a subgroup also participated in qualitative interviews about their experience of services. All interviews were carried out by the study researcher. Results 164 cases were seen during a 15 month period. The median age of children seen was 6 years (range: 1–12 years) and 75.6% were female. To date, 26 carers have completed telephone interviews and 13 qualitative interviews. Qualitative findings suggested a strong satisfaction with initial care provided by the CSAservice. Carers reported ongoing difficulties in navigating support services and managing their own and their child’s emotional responses several months after the CSA disclosure. Analysis highlighted key themes and potential areas for intervention: prolonged demand for mental health services that are child–friendly, immediate and available for a prolonged period, lack of ‘justice’ experienced by carers – both for cases not recommended and recommended to the Crown Prosecution Service, isolation from friends and family in certain cases due to the familial nature of the abuse. Conclusion Carers of children under 13 years attending a CSA service reported high levels of satisfaction with the initial assessment but raised concerns about longer term support, coordination of services and perceived failings in bringing perpetrators to justice.
YOUNG PERSONS HEALTH SPECIAL INTERESTS GROUP AND PAEDIATRIC EDUCATORS’ SPECIAL INTERESTS GROUP, 2019
Aims To describe medium-term health and social outcomes in young people 13–15 months post-sexual ... more Aims To describe medium-term health and social outcomes in young people 13–15 months post-sexual assault. Method Longitudinal mixed methods study examining the trajectories of adolescents presenting to the Sexual Assault Referral Centres (SARCs) serving a large, diverse city soon after assault. Data were collected within 6 weeks (T0), 4–5 months (T1) and 13–15 months (T2) of assault regarding young people’s health, education status and service use. Results 141 (29%) of 491 eligible young people were recruited (95% female, mean age [SD] 15.6 [1.3] years). 106 (75%) were reviewed at T1 and 75 (53%) at T2, when 19 took part in a semi-structured interview. 92% of participants had been raped. Nearly half were non-white; two-thirds from low-income backgrounds and half lived with only one parent. Participants had high levels of special educational needs; half had accessed mental health support in the 12 months prior to assault; half had been involved with social services and 20% had been in care. One in 3 had experienced a previous sexual assault. Mental health symptom levels were exceedingly high at T0. Despite many accessing support services, 54%, 59% and 72% of participants remained at risk for depression, anxiety disorder and post-traumatic stress disorder 13–15 months post-assault. Persistent (>30 days) absence from school doubled between T0 and T2 from 22% to 47% and was associated with baseline psychosocial risk factors. Qualitative data suggested a bi-directional relationship between mental health problems and disengagement from school, as well as poor understanding on the part of schools how to support young people post-assault. Baseline levels of smoking, alcohol use and drug use were high and increased during the study period but with no significant change by T2. Conclusion Adolescents who presented after sexual assault had high levels of deprivation and pre-existing vulnerability. Many remained at risk for disorders 13–15 months post-assault, highlighting the need for specialist intervention and ongoing support. A key area of concern for young people was disruption to their education. Multidisciplinary interventions are needed to prevent social exclusion and further widening of health inequalities in this population, and to support young people in their recovery and to lead full lives.
A 7-year-old child developed BK virus-induced hemorrhagic cystitis on day 16 after an allogeneic ... more A 7-year-old child developed BK virus-induced hemorrhagic cystitis on day 16 after an allogeneic bone marrow transplant. Contrary to previous reports, intravesical instillation of prostaglandin E2 was associated with considerable discomfort and failed to alleviate symptoms. Supportive treatment thereafter consisted of adequate hydration until the spontaneous resolution of symptoms on day 52.
Background-Delay in diagnosis of retinoblastoma causes considerable parental distress; however, t... more Background-Delay in diagnosis of retinoblastoma causes considerable parental distress; however, the primary healthcare professional (PHP) may have diYculty detecting the most common presenting symptom-leucocoria. Alternatively, the PHP may not appreciate that retinoblastoma is the pathology underlying more common ocular symptoms in infants and young children. Method-The parents of 100 recently diagnosed patients with retinoblastoma were interviewed to establish the extent of diagnostic delay, ascertain any associated risk factors, and to determine whether or not delay influenced treatment outcome. Results-Although nearly 50% of patients were referred to an ophthalmologist within 1 week of first consulting a PHP, one quarter waited more than 8 weeks. There was a significantly increased risk of diagnostic delay in younger patients, those presenting with squint rather than leucocoria, and those first presenting to a health visitor rather than to a general practitioner. The risk of local tumour invasion was significantly increased by diagnostic delay. Treatment with primary enucleation was not increased by diagnostic delay. There were no deaths during the study period. Conclusion-Primary healthcare professionals require education about the importance of ocular symptoms, especially squint, in paediatric patients.
Health professionals have a responsibility to safeguard children and adolescents up to the age of... more Health professionals have a responsibility to safeguard children and adolescents up to the age of 18 years, that is, to recognise and respond to maltreatment.1 The terms ‘child abuse’ and ‘child maltreatment’ often evoke the image of an infant or young child. Yet up to a third of all children subject to a Child Protection Plan in the UK are adolescents.2 Twenty-seven per cent of serious case reviews conducted between 2009 and 2010 involved young people aged 11–17 years (figure 1).3 Many more vulnerable adolescents (eg, homeless youth or victims of gang violence) are not widely acknowledged by health and social care professionals or the media to be ‘abused’ or ‘maltreated’ in the conventional sense, limiting the application of usual safeguarding mechanisms. Maltreatment in adolescence is likely to grow over the coming decades, as the burden of morbidity and mortality shifts from children to adolescents across the high-, middle- and low-income worlds.4 The rates of violent death in infants and young children in England and Wales have fallen over the last 30 years, whereas rates in adolescents have remained static or risen over the same period.5 Figure 1 Number of child deaths and other serious incidents by age group, April 2009 to March 2010 (England).3 In this article, we propose that adolescent maltreatment needs to be viewed through a wider lens and explore reasons for failure of professionals to respond to young people's needs. We suggest a safeguarding approach better suited to adolescent social models: one that recognises that the nature and presentation of maltreatment in adolescents often differ from those seen in younger children. There are two basic patterns of maltreatment in adolescence: continuation of an abusive pattern that began in early childhood and maltreatment beginning in …
Purpose To describe medium-term physical and mental health and social outcomes following adolesce... more Purpose To describe medium-term physical and mental health and social outcomes following adolescent sexual assault, and examine users’ perceived needs and experiences. Method Longitudinal, mixed methods cohort study of adolescents aged 13–17 years recruited within 6 weeks of sexual assault (study entry) and followed to study end, 13–15 months post-assault. Results 75/141 participants were followed to study end (53% retention; 71 females) and 19 completed an in-depth qualitative interview. Despite many participants accessing support services, 54%, 59% and 72% remained at risk for depressive, anxiety and post-traumatic stress disorders 13–15 months post-assault. Physical symptoms were reported more frequently. Persistent (> 30 days) absence from school doubled between study entry and end, from 22 to 47%. Enduring mental ill-health and disengagement from education/employment were associated with psychosocial risk factors rather than assault characteristics. Qualitative data suggeste...
Background: Sexual assault of adolescents is associated with negative mental health outcomes, inc... more Background: Sexual assault of adolescents is associated with negative mental health outcomes, including self-harm. Little is known about correlates and predictors of self-harm after sexual assault. We hypothesized that pre-assault vulnerabilities and post-assault psychological distress would be associated with self-harm after experiencing a recent sexual assault. Methods: The sample was recruited from adolescents aged 13 to 17 years accessing sexual assault centers and it included 98 females. Longitudinal data were collected at T0 (3.9 weeks on average post-assault) and T1 (21.8 weeks on average post-assault). Bivariate analysis and hierarchical binary logistic regressions were performed. Results: The rate of self-harm was 38.1% before the assault and 37.8% after the assault ( T1). History of family dysfunction ( OR 3.60 (1.30, 10.01)), depressive symptoms at T0 ( OR 5.83 (2.35, 14.43)) or T1 ( OR 2.79 (1.20, 6.50), and posttraumatic stress symptoms at T1 ( OR 3.21 (1.36, 7.58)) pre...
Contributors: Author contributions are detailed above. All authors were responsible for revision ... more Contributors: Author contributions are detailed above. All authors were responsible for revision and final approval of the manuscript. All authors had full access to all of the data (including statistical reports and tables) in the study and can take responsibility for the integrity of the data and the accuracy of the data analysis. SK is the guarantor for the study. Acknowledgments: We thank all the participants and staff at the three London Havens Sexual Assault Referral Centres, Dr Alice Armitage (data collection, abstracts), Dr Kirsten MacGregor (systematic review, abstracts, data collection), Mental Health Research Network (MHRN) Clinical Research Officers (recruitment), Dr Marta Casanovas (scoring of mental health instruments), Fatima Valencia-Agudo (scoring of mental health instruments), Prof Tamsin Ford (second opinion regarding the Development and Wellbeing Assessment diagnoses), Dr Greta Forster (co-applicant, now retired), and Abacus Ltd (double data entry). Drs Laia Villalta, Marta Casanovas and Fatima Valencia Agudo were funded by the Alicia Koplowitz Foundation while working on this research project.
A screening programme to detect fragile X syndrome has been operating in New South Wales, Austral... more A screening programme to detect fragile X syndrome has been operating in New South Wales, Australia, since 1984. The aim of this programme is to find previously unidentified individuals with the syndrome so that their extended families can be properly informed of the risks before making decisions about childbearing. 14,225 individuals attending adult and child facilities for the intellectually handicapped have been screened, of whom 8172 have been offered testing for the fragile X syndrome with a 79% uptake of the service. 253 probands were found, and in the extended families 818 females at 25-100% risk of being carriers were interviewed and counselled. Continuing contact was maintained and prenatal diagnosis was offered. The effect of the programme was assessed in a subgroup of 90 individuals, most of whom were appreciative of the service and felt that they had been adequately informed. The influence of knowing the diagnosis and its genetic implications were also assessed, the main consequences being a 26% reduction in births and a 61% uptake of prenatal diagnosis. Improved techniques for diagnosis of fragile X have benefited the families identified and counselled, suggesting that systematic screening for fragile X should be an essential component of community genetic services.
Aims To establish the incidence and clinical associations of acute pancreatitis (AP) in children ... more Aims To establish the incidence and clinical associations of acute pancreatitis (AP) in children aged 0-14 years in the UK. Methods Monthly surveillance of new cases of AP in children under 15 years of age through the British Paediatric Surveillance Unit. Results A total of 94 cases (48 boys and 46 girls) of AP, clinician-diagnosed from April 2013 to April 2014, fulfilled the diagnostic criteria. The median age of diagnosis was 11.2 years (range 1.30-14.89 years). White children accounted for 60% of cases compared to 40% from ethnic minorities (71% Asian and 13% Black). Pakistani children alone made up 19% of the cohort. The reported incidence of AP in children under age 15 in the UK was 0.78 per 100,000 (95% CI 0.62-0.96). Of the 94 cases: 36 (38%) were idiopathic, drugs 18 (19%), gallstones 12 (13%), hereditary 7 (7.5%), organic acidaemia 7 (7.5%), anatomical anomalies 4 (4%), viral infections 3 (3%), vasculitis 3 (3%), trauma 1 (1%) and others 3 (3%). The most common drug associations were asparaginase (28%), azathioprine (17%) and sodium valproate (17%). Of the 12 gallstone-associated cases, 5 were boys; body weight of 5 cases were above the 91st centile (4 were above the 98th centile). Overall, 6 of 7 organic acidaemia cases (86%) and 3 of 5 asparaginase-associated cases (60%) were of Pakistani ethnicity. Conclusion This is the first estimate of incidence of AP in children in the UK. In children, AP is associated with a wide variety of potential aetiologies and more than one third of cases have no cause identified. The associations of AP have changed significantly since the 1970/80s. Drug therapy and gallstones are now the commonest associations, whilst trauma and mumps have become uncommon. Children from some ethnic minorities are greatly over-represented, which possibly reflect the greater frequency of inborn errors of metabolism in some ethnicities. However the over-representation of asparaginase associated AP in Pakistani children merits further investigation.
Aims The study aims were to 1) assess the feasibility, acceptability and effectiveness of a new m... more Aims The study aims were to 1) assess the feasibility, acceptability and effectiveness of a new model of centralized health service provision (the CSAservice) for children under 13 years disclosing recent child sexual abuse (CSA) and 2) evaluate non-offending carer’s views of how effectively multi-agency services address the needs of these children and their carers. The CSAservice was developed according to Childhouse principles after a review of regional CSA health pathways showed they were poorly understood with unacceptably variable provision of physical and mental health follow-up. The new model provides increased access to initial holistic medical assessment, medical follow-up and bridging mental health assessment and treatment. Family advocacy support is provided throughout. Method A prospective mixed methods cohort study of under 13 year olds attending the CSAservice within 3 weeks of sexual assault. Routinely collected quantitative data include demographic, health and abuse-related information and service evaluation forms for both carers and children. Participating carers underwent a telephone interview 6–12 months after attending and a subgroup also participated in qualitative interviews about their experience of services. All interviews were carried out by the study researcher. Results 164 cases were seen during a 15 month period. The median age of children seen was 6 years (range: 1–12 years) and 75.6% were female. To date, 26 carers have completed telephone interviews and 13 qualitative interviews. Qualitative findings suggested a strong satisfaction with initial care provided by the CSAservice. Carers reported ongoing difficulties in navigating support services and managing their own and their child’s emotional responses several months after the CSA disclosure. Analysis highlighted key themes and potential areas for intervention: prolonged demand for mental health services that are child–friendly, immediate and available for a prolonged period, lack of ‘justice’ experienced by carers – both for cases not recommended and recommended to the Crown Prosecution Service, isolation from friends and family in certain cases due to the familial nature of the abuse. Conclusion Carers of children under 13 years attending a CSA service reported high levels of satisfaction with the initial assessment but raised concerns about longer term support, coordination of services and perceived failings in bringing perpetrators to justice.
YOUNG PERSONS HEALTH SPECIAL INTERESTS GROUP AND PAEDIATRIC EDUCATORS’ SPECIAL INTERESTS GROUP, 2019
Aims To describe medium-term health and social outcomes in young people 13–15 months post-sexual ... more Aims To describe medium-term health and social outcomes in young people 13–15 months post-sexual assault. Method Longitudinal mixed methods study examining the trajectories of adolescents presenting to the Sexual Assault Referral Centres (SARCs) serving a large, diverse city soon after assault. Data were collected within 6 weeks (T0), 4–5 months (T1) and 13–15 months (T2) of assault regarding young people’s health, education status and service use. Results 141 (29%) of 491 eligible young people were recruited (95% female, mean age [SD] 15.6 [1.3] years). 106 (75%) were reviewed at T1 and 75 (53%) at T2, when 19 took part in a semi-structured interview. 92% of participants had been raped. Nearly half were non-white; two-thirds from low-income backgrounds and half lived with only one parent. Participants had high levels of special educational needs; half had accessed mental health support in the 12 months prior to assault; half had been involved with social services and 20% had been in care. One in 3 had experienced a previous sexual assault. Mental health symptom levels were exceedingly high at T0. Despite many accessing support services, 54%, 59% and 72% of participants remained at risk for depression, anxiety disorder and post-traumatic stress disorder 13–15 months post-assault. Persistent (>30 days) absence from school doubled between T0 and T2 from 22% to 47% and was associated with baseline psychosocial risk factors. Qualitative data suggested a bi-directional relationship between mental health problems and disengagement from school, as well as poor understanding on the part of schools how to support young people post-assault. Baseline levels of smoking, alcohol use and drug use were high and increased during the study period but with no significant change by T2. Conclusion Adolescents who presented after sexual assault had high levels of deprivation and pre-existing vulnerability. Many remained at risk for disorders 13–15 months post-assault, highlighting the need for specialist intervention and ongoing support. A key area of concern for young people was disruption to their education. Multidisciplinary interventions are needed to prevent social exclusion and further widening of health inequalities in this population, and to support young people in their recovery and to lead full lives.
A 7-year-old child developed BK virus-induced hemorrhagic cystitis on day 16 after an allogeneic ... more A 7-year-old child developed BK virus-induced hemorrhagic cystitis on day 16 after an allogeneic bone marrow transplant. Contrary to previous reports, intravesical instillation of prostaglandin E2 was associated with considerable discomfort and failed to alleviate symptoms. Supportive treatment thereafter consisted of adequate hydration until the spontaneous resolution of symptoms on day 52.
Background-Delay in diagnosis of retinoblastoma causes considerable parental distress; however, t... more Background-Delay in diagnosis of retinoblastoma causes considerable parental distress; however, the primary healthcare professional (PHP) may have diYculty detecting the most common presenting symptom-leucocoria. Alternatively, the PHP may not appreciate that retinoblastoma is the pathology underlying more common ocular symptoms in infants and young children. Method-The parents of 100 recently diagnosed patients with retinoblastoma were interviewed to establish the extent of diagnostic delay, ascertain any associated risk factors, and to determine whether or not delay influenced treatment outcome. Results-Although nearly 50% of patients were referred to an ophthalmologist within 1 week of first consulting a PHP, one quarter waited more than 8 weeks. There was a significantly increased risk of diagnostic delay in younger patients, those presenting with squint rather than leucocoria, and those first presenting to a health visitor rather than to a general practitioner. The risk of local tumour invasion was significantly increased by diagnostic delay. Treatment with primary enucleation was not increased by diagnostic delay. There were no deaths during the study period. Conclusion-Primary healthcare professionals require education about the importance of ocular symptoms, especially squint, in paediatric patients.
Health professionals have a responsibility to safeguard children and adolescents up to the age of... more Health professionals have a responsibility to safeguard children and adolescents up to the age of 18 years, that is, to recognise and respond to maltreatment.1 The terms ‘child abuse’ and ‘child maltreatment’ often evoke the image of an infant or young child. Yet up to a third of all children subject to a Child Protection Plan in the UK are adolescents.2 Twenty-seven per cent of serious case reviews conducted between 2009 and 2010 involved young people aged 11–17 years (figure 1).3 Many more vulnerable adolescents (eg, homeless youth or victims of gang violence) are not widely acknowledged by health and social care professionals or the media to be ‘abused’ or ‘maltreated’ in the conventional sense, limiting the application of usual safeguarding mechanisms. Maltreatment in adolescence is likely to grow over the coming decades, as the burden of morbidity and mortality shifts from children to adolescents across the high-, middle- and low-income worlds.4 The rates of violent death in infants and young children in England and Wales have fallen over the last 30 years, whereas rates in adolescents have remained static or risen over the same period.5 Figure 1 Number of child deaths and other serious incidents by age group, April 2009 to March 2010 (England).3 In this article, we propose that adolescent maltreatment needs to be viewed through a wider lens and explore reasons for failure of professionals to respond to young people's needs. We suggest a safeguarding approach better suited to adolescent social models: one that recognises that the nature and presentation of maltreatment in adolescents often differ from those seen in younger children. There are two basic patterns of maltreatment in adolescence: continuation of an abusive pattern that began in early childhood and maltreatment beginning in …
Purpose To describe medium-term physical and mental health and social outcomes following adolesce... more Purpose To describe medium-term physical and mental health and social outcomes following adolescent sexual assault, and examine users’ perceived needs and experiences. Method Longitudinal, mixed methods cohort study of adolescents aged 13–17 years recruited within 6 weeks of sexual assault (study entry) and followed to study end, 13–15 months post-assault. Results 75/141 participants were followed to study end (53% retention; 71 females) and 19 completed an in-depth qualitative interview. Despite many participants accessing support services, 54%, 59% and 72% remained at risk for depressive, anxiety and post-traumatic stress disorders 13–15 months post-assault. Physical symptoms were reported more frequently. Persistent (> 30 days) absence from school doubled between study entry and end, from 22 to 47%. Enduring mental ill-health and disengagement from education/employment were associated with psychosocial risk factors rather than assault characteristics. Qualitative data suggeste...
Background: Sexual assault of adolescents is associated with negative mental health outcomes, inc... more Background: Sexual assault of adolescents is associated with negative mental health outcomes, including self-harm. Little is known about correlates and predictors of self-harm after sexual assault. We hypothesized that pre-assault vulnerabilities and post-assault psychological distress would be associated with self-harm after experiencing a recent sexual assault. Methods: The sample was recruited from adolescents aged 13 to 17 years accessing sexual assault centers and it included 98 females. Longitudinal data were collected at T0 (3.9 weeks on average post-assault) and T1 (21.8 weeks on average post-assault). Bivariate analysis and hierarchical binary logistic regressions were performed. Results: The rate of self-harm was 38.1% before the assault and 37.8% after the assault ( T1). History of family dysfunction ( OR 3.60 (1.30, 10.01)), depressive symptoms at T0 ( OR 5.83 (2.35, 14.43)) or T1 ( OR 2.79 (1.20, 6.50), and posttraumatic stress symptoms at T1 ( OR 3.21 (1.36, 7.58)) pre...
Contributors: Author contributions are detailed above. All authors were responsible for revision ... more Contributors: Author contributions are detailed above. All authors were responsible for revision and final approval of the manuscript. All authors had full access to all of the data (including statistical reports and tables) in the study and can take responsibility for the integrity of the data and the accuracy of the data analysis. SK is the guarantor for the study. Acknowledgments: We thank all the participants and staff at the three London Havens Sexual Assault Referral Centres, Dr Alice Armitage (data collection, abstracts), Dr Kirsten MacGregor (systematic review, abstracts, data collection), Mental Health Research Network (MHRN) Clinical Research Officers (recruitment), Dr Marta Casanovas (scoring of mental health instruments), Fatima Valencia-Agudo (scoring of mental health instruments), Prof Tamsin Ford (second opinion regarding the Development and Wellbeing Assessment diagnoses), Dr Greta Forster (co-applicant, now retired), and Abacus Ltd (double data entry). Drs Laia Villalta, Marta Casanovas and Fatima Valencia Agudo were funded by the Alicia Koplowitz Foundation while working on this research project.
A screening programme to detect fragile X syndrome has been operating in New South Wales, Austral... more A screening programme to detect fragile X syndrome has been operating in New South Wales, Australia, since 1984. The aim of this programme is to find previously unidentified individuals with the syndrome so that their extended families can be properly informed of the risks before making decisions about childbearing. 14,225 individuals attending adult and child facilities for the intellectually handicapped have been screened, of whom 8172 have been offered testing for the fragile X syndrome with a 79% uptake of the service. 253 probands were found, and in the extended families 818 females at 25-100% risk of being carriers were interviewed and counselled. Continuing contact was maintained and prenatal diagnosis was offered. The effect of the programme was assessed in a subgroup of 90 individuals, most of whom were appreciative of the service and felt that they had been adequately informed. The influence of knowing the diagnosis and its genetic implications were also assessed, the main consequences being a 26% reduction in births and a 61% uptake of prenatal diagnosis. Improved techniques for diagnosis of fragile X have benefited the families identified and counselled, suggesting that systematic screening for fragile X should be an essential component of community genetic services.
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Papers by Andrea Goddard