Adults with Down''s syndrome: the prevalence of complications and health care in the community

BACKGROUND: Individuals with Down's syndrome are predisposed to a variety of medical conditions which can impose an additional, but preventable, burden of secondary disability. Although there are guidelines for health checks and medical management of children with Down's syndrome, the needs of adults are relatively neglected. AIM: To determine the prevalence of common medical problems in adults with Down's syndrome, and to assess current practice regarding medical surveillance of these patients. DESIGN OF STUDY: Detailed notes analysis. SETTING: Data were obtained from the primary care records of adults with Down's syndrome living in the Newcastle upon Tyne and Gateshead areas. METHOD: Case notes were reviewed to obtain details regarding complications and to determine the frequency of medical surveillance of individuals with Down's syndrome. RESULTS: Complications such as hypothyroidism, celiac disease, and obesity occur more frequently in adults with Down's syndrome than previous paediatric prevalence studies suggest. Surveillance of common complications that occur in individuals with Down's syndrome is infrequent. In this study, 48% of adults with Down's syndrome had not seen a doctor in the previous 12 months and 33% had not had a medical assessment in the previous 3 years. CONCLUSION: Many individuals with Down's syndrome do not have access to regular healthcare checks, despite the high frequency of common medical complications in adult life. Debate regarding the practicality and relevance of introducing regular health checks is warranted.     

A survey of Down's syndrome under general practitioner care in Scotland

A survey of all general practitioners in Scotland has revealed details of 1,251 individuals with Down's syndrome being cared for by their family doctor; 1,150 were living at home.

Eighty-two per cent of doctors responded to the questionnaire. High prevalence rates have been noted in the Western Isles and in Shetland. The survey confirms reports of a lowering of maternal and paternal age in Down's syndrome; 72 per cent of the mothers and 56 per cent of the fathers of Down's syndrome children born since 1971 were under 35 years at the time of birth. The survey also revealed an increase in the number of Down's people living with either one parent or relatives with increasing age. It is hoped that further research will be carried out into the problems facing Down's individuals and their families through the medium of general practice.

     

Personal continuity and the care of patients with epilepsy in general practice.

BACKGROUND: So far no study has shown that patients with a chronic illness benefit from seeing the same doctor in general practice although many believe this to be so. AIM: Epilepsy was chosen as an example to test the hypothesis that if patients see the same doctor more often in general practice they are more likely to discuss personally important aspects of their illness. METHODS: In this cross-sectional survey 99 patients aged 15-84 years with active epilepsy were interviewed at home and then their records were reviewed. The patients came from four large Southampton group practices, one with a strict personal list system and three with combined lists. Outcome measures included reported discussion of feelings about stopping medication, stigma and concealment and the patient's relationship with practice doctors. Continuity was assessed from the records. RESULTS: Discussion of epilepsy was not significantly associated with continuity of doctor but was significantly associated with ease of talking to one or more doctors. CONCLUSION: Encouraging patients with epilepsy to see the same doctor may be less important than improving doctors' communication skills and paying specific attention to the psychosocial aspects of epilepsy as well as to seizure control. It is recommended that a simple checklist including these items is used when a patient's care is reviewed.     

Exploratory cluster randomised controlled trial of shared care development for long-term mental illness.

BACKGROUND: Primary care clinicians have a considerable amount of contact with patients suffering from long-term mental illness. The United Kingdom's National Health Service now requires general practices to contribute more systematically to care for this group of patients. AIMS: To determine the effects of Mental Health Link, a facilitation-based quality improvement programme designed to improve communication between the teams and systems of care within general practice. Design of study: Exploratory cluster randomised controlled trial. SETTING: Twenty-three urban general practices and associated community mental health teams. METHOD: Practices were randomised to service development as usual or to the Mental Health Link programme. Questionnaires and an audit of notes assessed 335 patients' satisfaction, unmet need, mental health status, processes of mental and physical care, and general practitioners' satisfaction with services and beliefs about service development. Service use and intervention costs were also measured. RESULTS: There were no significant differences in patients' perception of their unmet need, satisfaction or general health. Intervention patients had fewer psychiatric relapses than control patients (mean = 0.39 versus 0.71, respectively, P = 0.02) but there were no differences in documented processes of care. Intervention practitioners were more satisfied and services improved significantly for intervention practices. There was an additional mean direct cost of pound 63 per patient with long-term mental illness for the intervention compared with the control. CONCLUSION: Significant differences were seen in relapse rates and practitioner satisfaction. Improvements in service development did not translate into documented improvements in care. This could be explained by the intervention working via the improvements in informal shared care developed through better link working. This type of facilitated intervention tailored to context has the potential to improve care and interface working.     

Peripheral blood cell counts in infants with Down's syndrome

The current literature indicates that several abnormalities have been observed in the three hematopoietic cell lines of infants with Down's syndrome. This prospective, longitudinal study was designed to clarify the physiological variation in peripheral blood cell values of children with Down's syndrome by following 25 such infants during their first year of life. Apart from polycythemia in the first week of life, the hemoglobin concentration was, in general, the same as in normal term infants. At 9–12 months of age values for mean corpuscular hemoglobin and mean corpuscular volume tended to be elevated. Serum erythropoietin concentrations were low to normal. White blood cell counts were slightly lower in children with Down's syndrome than in normal children. The study infants had profound thrombocytosis from the age of 6 weeks to the end of follow-up at 1 year. This study, the first longitudinal follow-up of such subjects, indicates that infants with Down's syndrome often have evidence of polycythemia soon after birth and red blood cell macrocytosis and thrombocytosis later in infancy. In conclusion, we carried out peripheral blood cell counts in 25 infants with Down's syndrome, but with no actual hematological disturbance, during their first year of life, and compared them with values for normal term infants.     

Brief report: the relationship between chronic illness and identification and management of psychosocial problems in pediatric primary care

OBJECTIVE: To compare identification, management, and barriers to treatment for psychosocial concerns in children with and without a chronic illness. METHODS: Using data from the Child Behavior Study (CBS), provider rates of identification, treatment, and reports of barriers to treatment were compared in children with and without a chronic illness. Of the 21,065 children ranging in age from 4 to 15 years, 808 children were identified with a chronic illness and were matched on eight demographic variables with 763 healthy children. RESULTS: Providers identified psychosocial concerns in significantly more children with a chronic illness (36.8%) than healthy children (20.2%). Among children with psychosocial concerns, rates of identification, treatment, and barriers to treatment did not differ across the two groups. CONCLUSIONS: Chronic illness did not present more barriers to the management of psychosocial concerns. Increased rates of identification and treatment of psychosocial concerns require attention to general barriers to treatment and screening.     

Terminal care in the home

We report on a 16-week study of the terminal care given to 118 patients who died at home at the end of a chronic illness. We describe the clinical features of the care and how these were managed, we compare the doctors' and relatives' view of the patients' suffering and awareness of death, and we explore the implications of death at home for general practitioner, nursing and other support services and for the relatives who care for the patient.     

Primary care clinician antibiotic prescribing decisions in consultations for children with RTIs: a qualitative interview study

BackgroundRespiratory tract infections (RTIs) are a major primary care challenge in children because they are common and costly, there is uncertainty regarding their diagnosis, prognosis, and management, and the overuse of antibiotics leads to illness medicalisation and bacterial resistance.AimTo investigate healthcare professional (HCP) diagnostic and antibiotic prescribing decisions for children with RTIs.MethodInterviews were audiorecorded, transcribed, imported into NVivo 9, and analysed thematically.ResultsHCPs varied in the symptom and clinical examination findings used to identify children they thought might benefit from antibiotics. Their diagnostic reasoning and assessment of perceived clinical need for antibiotics used a dual process, combining an initial rapid assessment with subsequent detailed deductive reasoning. HCPs reported confidence diagnosing and managing most minor and severe RTIs. However, residual prognostic uncertainty, particularly for the intermediate illness severity group, frequently led to antibiotic prescribing to mitigate the perceived risk of subsequent illness deterioration. Some HCPs perceived a need for more paediatrics training to aid treatment decisions. The study also identified a number of non-clinical factors influencing prescribing.ConclusionPrognostic uncertainty remains an important driver of HCPs’ antibiotic prescribing. Experience and training in recognising severe RTIs, together with more evidence to help HCPs identify the children at risk of future illness deterioration, may support HCPs’ identification of the children most and least likely to benefit from antibiotics.     

A three-year follow-up of psychiatric morbidity in urban and rural primary care

Follow-up by examination of medical and psychiatric records was carried out on 357 patients with conspicuous psychiatric morbidity in two general practices three years after clinical and personality assessment using structured interview schedules. One practice was an inner-city urban one and the other was rural. Full follow-up data over the 3-year period was available for 301 patients (84.3%). After three years patients with personality disorder and those in the urban practice had greater morbidity, more contacts with all levels of the psychiatric service and more psychotropic drugs, particularly benzodiazepines. Despite this increased morbidity, the number of consultations with the general practitioner for psychiatric illness was no higher in the urban group and those for medical illness were significantly higher in the rural one. The implications of the findings are discussed with particular reference to developments in community psychiatric care.     

1318例发育异常和高危胎儿产前诊断及处理的结局分析

目的分析1318例发育异常和高危胎儿产前诊断及处理的结局,总结异常和高危胎儿产前诊断、围产期监护和处理、出生后衔接治疗流程,以探讨适合目前国内医疗水平的胎儿医学模式。方法对在本院和外院转送经常规产检筛查:发现孕期孕母高龄或血清唐氏风险高、TORCH感染、RH(-)、父母双方地贫携带者等孕期胎儿高危因素者1123例和B超影象发现结构异常的胎儿195例进行①介入性产前诊断检查染色体、TORCH等;②预后评估;③围产期监护;④分娩后衔接处理;⑤新生儿期跟踪处理;⑥定期随访与总结。结果产前诊断结果胎儿重型a地贫39/276,重型B地贫18/236;TORCH感染11/229例;母RH(-)5例,1/5例胎儿严重水肿引产,1/5例胎儿黄疸;染色体异常19例,其中7/377例为母高龄或血清筛查唐氏风险高,11/195例为胎儿结构异常;单纯胎儿结构异常62例引产放弃,2/195 TORCH感染,引产;120例期待观察,其中68例手术治疗,7例治疗失败,其余胎儿均获得良好愈后。结论异常和高危胎儿可通过产前诊断、医学评估、宫内监护、出生后治疗处理获得良好和合理结局。     

Communication within low income families and the management of asthma

This study examines the effects of communication between low income urban parents and children about a chronic disease on the extent to which parent and child effectively manage the illness. Four asthma communication factors were identified by principal component analysis. We found that mothers whose preferred language was Spanish, and families who were not receiving public assistance, communicated more frequently about asthma in general. Spanish speaking mothers and their children communicated more about potential home treatments for asthma, and the more adults in the household the less there was communication about the need for emergency services for asthma. Mothers who preferred to speak Spanish had higher levels of management of the most recent asthma attack. Those whose children communicated with them about asthma in general were higher level managers. Children who influenced their parents' decisions about school attendance, and those whose mothers were more highly educated, had higher levels of asthma attack management. More educated mothers, ones whose children were younger at the time of the onset of asthma, and one who received public assistance, were more involved "in general" in their child's asthma care.     

The role of symptoms in the recognition of mental health disorders in primary care

This study investigates the role of patients' complaints and symptoms in the diagnostic process of mood and anxiety disorders in general practice. In 12 primary care practices, 1,211 patients were diagnosed with the aid of the National Institute of Mental Health Diagnostic Interview Schedule, then the diagnoses were compared with those established by the general practitioners. A low rate of concordance was found between these diagnoses. The absence of somatic illnesses and the presence of psychological complaints were the most important factors in the recognition of a mental illness by the general practitioners. The concordance between the general practitioners and the DIS diagnoses was higher if the patients had neither an acute nor a chronic somatic illness.     

Recognising Kawasaki disease in UK primary care: a descriptive study using the Clinical Practice Research Datalink

Background

Kawasaki disease is a rare childhood illness that can present non-specifically, making it a diagnostic challenge. The clinical presentation of Kawasaki disease has not been previously described in primary care.

Aim

To describe how children with an eventual diagnosis of Kawasaki disease initially present to primary care in the UK.

Design and setting

The Clinical Practice Research Datalink was used to find cases coded as Kawasaki disease. Hospital Episode Statistics, hospital admissions, and hospital outpatient attendances were used to identify the children with a convincing diagnosis of Kawasaki disease.

Method

Questionnaires and a request for copies of relevant hospital summaries, discharge letters, and reports were sent to GPs of the 104 children with a diagnosis of Kawasaki disease between 2007 and 2011.

Results

Most children presented with few clinical features typical of Kawasaki disease. Of those with just one feature, a fever or a polymorphous rash were the most common. By the time that most children were admitted to hospital they had a more recognisable syndrome, with three or more clinical features diagnostic of Kawasaki disease. Most GPs did not consider Kawasaki disease among their differential diagnoses, but some GPs did suspect that the child’s illness was unusual.

Conclusion

The study highlighted the difficulty of early diagnosis, with most children having a non-specific presentation to primary care. GPs are encouraged to implement good safety netting, and to keep Kawasaki disease in mind when children present with fever and rashes.     

Features of primary care associated with variations in process and outcome of care of people with diabetes.

BACKGROUND: There is now clear evidence that tight control of blood glucose and blood pressure significantly lowers the risk of complications in both type I and type II diabetes. Although there is evidence that primary care can be as effective as secondary care in delivering care for people with diabetes, standards in primary care are variable. Previous studies have shown that practice, patient or organisational factors may influence the level of care of patients with diabetes. However, these studies have been conducted in single geographical areas and involved only small numbers of practices. AIM: To determine the standard of diabetes care in general practice and to determine which features of practices are associated with delivering good quality care. DESIGN OF STUDY: A questionnaire survey and analysis of multi-practice audit data. SETTING: Three health authorities in England, comprising 169 general practices. METHOD: This study was conducted with a total population of 1,182,872 patients and 18,642 people with diabetes. Linkage analysis was carried out on data collected by a questionnaire, routinely collected health authority data, and multi-practice audit data collected by primary care audit groups. Practice annual compliance was measured with process and outcome measures of care, including the proportion of patients who had an examination of their fundi, feet, blood pressure, urine, glycated haemoglobin, and the proportion who had a normal glycated haemoglobin. RESULTS: Median compliance with process and outcome measures of care varied widely between practices: fundi were checked for 64.6% of patients (interquartile range [IQR] = 45.3-77.8%), urine was checked for 71.4% (IQR = 49.7-84.3%), feet were checked for 70.4% (IQR = 51.0-84.4%), blood pressure for 83.6% (IQR = 66.7-91.5%), and glycated haemoglobin was checked for 83.0% of patients (IQR = 69.4-92.0%). The glycated haemoglobin was normal in 42.9% of patients (IQR = 33.0-51.2%). In multiple regression analysis, compliance with measures of process of care were significantly associated with smaller practices, fundholding practices, and practices with a recall system. Practices with more socioeconomically deprived patients were associated with lower compliance with most process measures. Practices with a greater proportion of patients attending hospital clinics had lower compliance with process and outcome measures. Being a training practice, having a diabetes mini-clinic, having more nurses, personal care, and general practitioner or nurse interest in diabetes were not associated with compliance of process or outcome of care. CONCLUSIONS: Despite recent evidence that complications of diabetes may be delayed or prevented, this study has highlighted a number of deficiencies in the provision of diabetes care and variations in care between general practices. Provision of high quality diabetes care in the United Kingdom will present an organisational challenge to primary care groups and trusts, especially those in deprived areas.     

Provision of obstetric care by general practitioners in the south western region of England.

BACKGROUND. Recent government reports have suggested changes to the organization of maternity care in the United Kingdom which may well affect the contribution of general practitioners. AIM. This study set out to document the range of obstetric care provided by general practitioners, their perceived competence at various obstetric procedures, and their beliefs about their role in maternity care. METHOD. A postal questionnaire was sent to a random one in four sample of general practitioners in the South Western Regional Health Authority of England. RESULTS. Of 424 questionnaires sent out, 333 (79%) were returned. Of 303 respondents, 98% provided both antenatal and postnatal care. Of 294 respondents, 45% provided intrapartum care and 27% booked women for home deliveries. Of 117 respondents providing hospital intrapartum care 47% booked 10 or fewer women each year, and most provided little practical intrapartum care. Compared with those providing only antenatal and postnatal care, those who provided intrapartum care believed themselves to be more competent at various obstetric procedures and their perceived competence was significantly correlated to the number of procedures that they performed. Those general practitioners providing intrapartum care made significantly more postnatal visits than those providing only antenatal/postnatal care and were significantly more likely to believe that general practitioners have an important role in labour. CONCLUSION. Many general practitioners in the south western region of England still provide a choice in maternity care for women, and believe that they have an important role in such care. Further work is required to establish what women and their general practitioners believe the latter contribute to maternity care.     

Distinguishing patients with chronic fatigue from those with chronic fatigue syndrome: a diagnostic study in UK primary care.

BACKGROUND: Chronic fatigue syndrome (CFS) has been defined, but many more patients consult in primary care with chronic fatigue that does not meet the criteria for CFS. General practitioners (GPs) do not generally use the CFS diagnosis, and have some doubt about the validity of CFS as an illness. AIM: To describe the proportion of patients consulting their GP for fatigue that met the criteria for CFS, and to describe the social, psychological, and physical differences between patients with CFS and those with non-CFS chronic fatigue in primary care. DESIGN OF STUDY: Baseline data from a trial of complex interventions for fatigue in primary care. SETTING: Twenty-two general practices located in London and the South Thames region of the United Kingdom recruited patients to the study between 1999 and 2001. METHOD: One hundred and forty-one patients who presented to their GP with unexplained fatigue lasting six months or more as a main symptom were recruited, and the Centers for Disease Control (CDC) case definition was applied to classify CFS. RESULTS: Approximately two-thirds (69%) of patients had chronic fatigue and not CFS. The duration of fatigue (32 months) and perceived control over fatigue were similar between groups; however, fatigue, functioning, associated symptoms, and psychological distress were more severe in the patients in the CFS group, who also consulted their GP significantly more frequently, were twice as likely to be depressed, and more than twice as likely to be unemployed. About half (CFS = 50%; chronic fatigue = 55%) in each group attributed their fatigue to mainly psychological causes. CONCLUSIONS: In primary care, CFS is a more severe illness than chronic fatigue, but non-CFS chronic fatigue is associated with significant fatigue and is reported at least twice as often. That half of patients, irrespective of CFS status, attribute their fatigue to psychological causes, more than is observed in secondary care, indicates an openness to the psychological therapies provided in that setting. More evidence on the natural history of chronic fatigue and CFS in primary care is required, as are trials of complex interventions. The results may help determine the usefulness of differentiating between chronic fatigue and CFS.     

Post-neonatal hospitalization and health care costs among IVF children: a 7-year follow-up study

BACKGROUND: The objective of this study was to evaluate whether the post-neonatal hospitalization and resulting health care costs are increased among in vitro fertilization (IVF) children up to 7 years of age. METHODS: We conducted a population-based cohort study with linkage to a national hospital discharge register including 303 IVF children, born from 1990 to 1995, and 567 control children (1:2) randomly chosen from the Finnish Medical Birth Register and matched for sex, year of birth, area of residence, parity, maternal age and socioeconomic status. The cost calculations were stratified for singleton (n = 152 vs. n = 285) and twin (n = 103 vs. n = 103) status. Main outcome measures were hospitalizations and societal health care costs. RESULTS: The full-sample and singleton analyses showed that IVF children were significantly more frequently admitted to hospital (mean 1.76 vs. 1.07, P < 0.0001; 1.61 vs. 1.07, P = 0.0004, respectively) and spent significantly more days in the hospital (mean 4.31 vs. 2.61, P < 0.0001; 3.47 vs. 2.56, P = 0.0014, respectively) than control children. No differences were detected between IVF and control twins. The costs of post-neonatal hospital care per child were 2.6-fold for IVF singletons, but 0.7-fold for IVF twins when compared with controls. Cost estimation showed 2.6-fold costs for total IVF population in comparison to general population based controls. CONCLUSIONS: The incidence of multiple births increases the utilization of post-neonatal health care services and costs among IVF children in comparison to naturally conceived children. Increased hospitalization and costs were also seen among IVF singletons.     

Resource costs for asthma-related care among pediatric patients in managed care.

BACKGROUND: In 1998, the economic burden of asthma in the United States was estimated to be 12.7 billion dollars. Yet few studies have examined the relationship between the total costs of asthma-related care and measures of asthma morbidity. Understanding the relationship between total costs of asthma-related care and morbidity can assist in designing the most cost-effective asthma care strategies to improve patient outcomes and minimize total costs. OBJECTIVE: To investigate correlates of asthma costs for children with mild-to-moderate persistent asthma and, specifically, to characterize how closely the percentage of predicted forced expiratory volume in 1 second (FEV1) and symptom days were correlated with costs of illness. METHODS: A total of 638 parents and children with mild-to-moderate persistent asthma in 4 managed care delivery systems in 3 different US geographic regions were enrolled. Symptom burden and annual resource utilization were determined from reports of physician visits, hospitalizations, emergency department visits, medication use, and parental missed workdays. Spirometry was conducted on children who were 5 years and older. To characterize the relationship between symptom days and the percentage of predicted FEV1 with costs, we specified a multivariate regression model. RESULTS: The median total annual asthma-related cost for the group was 564 dollars (interquartile range [IQR], 131 dollars-1602 dollars). Indirect costs represented 54.6% of total costs. Medicines accounted for 52.6% of direct costs. The mean percentage of predicted FEV1 was 101.6% (range, 39.3%-183.5%; IQR, 91.6%-111.3%), with 91.4% of patients with a percentage of predicted FEV1 of more than 80%. Based on multivariate modeling, increasing asthma severity, use of peak expiratory flow rate meters, younger age, low-income status and nonwhite race, and longer duration of asthma were significantly associated with increasing cost. Symptom days (P < 0.001) predicted annual costs better than percentage of predicted FEV1 (P < 0.16) in this group of children. CONCLUSIONS: For the large number of children with mild-to-moderate persistent asthma and normal or near-normal lung function, symptom days are predictive of health care costs. For these insured children receiving care from 3 large managed care providers, low-income status and nonwhite race were the strongest correlates for increased asthma-related costs.     

Psychosocial and health belief variables associated with frequent attendance in primary care

BACKGROUND: The reasons for high use of primary care, and in particular the role of psychosocial factors, remain unclear. METHODS: We identified and interviewed 236 frequent attenders and 420 normal users, matched by age and sex, of a public Health Centre in Granada, Spain. Users were questioned about mental health (GHQ-28), social support (Duke-UNC-11), family dysfunction (family APGAR) and health beliefs (health belief model, locus of health control and medical care expectations). We also measured a set of individual, social and illness variables. RESULTS: Multiple logistic regression analyses showed that mental health was the main factor associated with frequent attender status (odds ratio = 3.1; 2.4-3.9). The association was stronger than that between frequent attender status and perceived illness, and between the former and reported chronic illness. Family dysfunction and perceived susceptibility to and severity of disease were also significantly but more weakly associated with frequent attender status. Affective support was more strongly associated with FA status than was confidant support, but both associations disappeared when mental health and family function were controlled for. CONCLUSIONS: Our findings document the association of psychosocial factors and primary health care use. We suggest that the effective management of mental health problems from a family-based approach may reduce primary health care high use.