Abstract:
OBJECTIVE:To evaluate genetic disease among children referred to a community paediatric clinic. DESIGN:Retrospective cohort study. SETTING:Community paediatric clinic, Tower Hamlets, London. PATIENTS:All patients seen for first time in the Child Development Team (CDT) clinic between 1999 and 2013. INTERVENTIONS:Clinical notes were reviewed. Genetic test results were obtained. Exploratory Excel analysis was performed. Patients without an identified genetic disorder were labelled 'more likely genetic cause' if they had at least two out of three risk factors: developmental delay, congenital abnormality or parental consanguinity, and 'unlikely genetic cause' if they had one or no risk factors, or an obvious alternative cause. MAIN OUTCOME MEASURES:Prevalence of genetic diagnoses and parental consanguinity, undertaking of genetic tests, predicted likelihood of a genetic cause among unsolved patients. RESULTS:749 patients were included. 404 (53.9%) had undergone genetic testing and 158 of those tested (39.1%) had a confirmed genetic diagnosis. Parental relatedness was documented in 461 patients, of which 128 (27.8%) had first-cousin parents. The number of patients undergoing genetic testing increased over time. Aneuploidies and syndromic/Mendelian disorders were most common. Of the 591 patients without a genetic diagnosis, 29.9% were classified 'more likely genetic cause'. Patients with consanguineous parents were significantly more likely to have a diagnosed genetic disorder than those with non-consanguineous parents (43/128 vs 72/333), particularly an autosomal recessive condition (27/43 vs 6/72). CONCLUSIONS:Genetic disease was common and genetic testing is important in evaluating children in this clinic. Consanguinity increases the likelihood of autosomal recessive disease.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Best S,Rosser E,Bajaj Mdoi
10.1136/archdischild-2017-312739subject
Has Abstractpub_date
2017-11-01 00:00:00pages
1014-1018issue
11eissn
0003-9888issn
1468-2044pii
archdischild-2017-312739journal_volume
102pub_type
杂志文章abstract::Maternal transmission of hepatitis B virus infection in relation to the hepatitis B e antigen/antibody system and serum hepatitis B virus-DNA were evaluated. Results indicate that hepatitis B virus-DNA analysis can identify hepatitis B serum antigen positive mothers who may transmit infection to their offspring. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.1.56
更新日期:1985-01-01 00:00:00
abstract:OBJECTIVE:To examine the risk of disability from unintentional injury in teenagers and young adults. METHODS:Analyses of data from the National Child Development Study, a follow up study of 98% of all children born in England, Scotland, and Wales in one week in March, 1958. In 1981, 12,537 study participants, 76% of t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.75.2.156
更新日期:1996-08-01 00:00:00
abstract::Ketamine hydrochloride 2 mg/kg, together with atropine 0.2 mg, has been given intravenously on 100 occasions on a general paediatric ward. No serious side effects occurred. Dreams followed in 4 children but did not reduce acceptability of the drug. In our hands it has greatly reduced the pain and distress of children ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.1.56
更新日期:1976-01-01 00:00:00
abstract::The relationship between the insulin-breakfast interval, postprandial increase in blood glucose, and glycaemic control was studied in 58 children with diabetes. Patients recorded insulin-breakfast intervals in a home diary over a seven day period, and during a 24 hour period at the weekend provided eight serial capill...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.3.248
更新日期:1994-09-01 00:00:00
abstract::An infant with lactose intolerance is described. A breast-fed infant developed vomiting at 3 weeks, and became dehydrated. Lactosuria, aminoaciduria, and liver damage were preesent. A milk-free diet led to rapid recovery. At 6 months a normal diet was well tolerated. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.55.4.304
更新日期:1980-04-01 00:00:00
abstract::Four children, including three infants, who died suddenly and unexpectedly are described. In three of the cases group A beta haemolytic streptococcus was cultured and in the fourth Streptococcus pneumoniae. The organism was grown from multiple sites including blood in two of them. Without microbiological investigation...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.69.3.381
更新日期:1993-09-01 00:00:00
abstract::The introduction of chemoprophylaxis with rifampicin and isoniazid in 1981 significantly reduced the incidence of tuberculosis. Between 1978 and 1981 children accounted for 136 of 642 notified cases, and this was reduced to 55 of 418 between 1982 and 1986. This effect was most obvious among children from the Indian su...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.10.1005
更新日期:1987-10-01 00:00:00
abstract::To study maternal and fetal influences on blood pressure in childhood 405 children aged 4 years who were born and still resident in the Salisbury health district were visited at home for blood pressure and growth measurements. Information on the pregnancy, delivery, and baby was abstracted from the routine obstetric n...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.66.11.1291
更新日期:1991-11-01 00:00:00
abstract::Information is presented about 19 children, under age 7 years, from 17 families, whose mothers consistently gave fraudulent clinical histories and fabricated signs so causing them needless harmful medical investigations, hospital admissions, and treatment over periods of time ranging from a few months to 4 years. Epis...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.57.2.92
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVES:To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potential benefit of newborn screening for late-presenting CAH. DESIGN:Active...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2012-303070
更新日期:2014-01-01 00:00:00
abstract::In this review, we survey some significant advances in the medical care of babies <1000 g and we highlight the development of care pathways that ensure optimal antenatal care, which is a prerequisite for good neonatal outcomes. We also suggest that the long overdue development of family integrated care will in the end...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2015-309583
更新日期:2016-11-01 00:00:00
abstract:AIMS:To determine whether delayed capillary refill time (>3 seconds) is a useful prognostic indicator in Kenyan children admitted to hospital. METHODS:A total of 4160 children admitted to Kilifi District Hospital with malaria, malarial anaemia, acute respiratory tract infection (ARI), severe anaemia (haemoglobin <50 g...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.032516
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:To explore the effect of research ethics, governance and consent requirements and recent reforms on UK-wide follow-up of children with congenital heart defects (CHD). DESIGN:Prospective cohort study. SETTING:UK National Health Service. PATIENTS:3897 children with CHD requiring intervention, or resulting in...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,多中心研究
doi:10.1136/adc.2008.152975
更新日期:2011-01-01 00:00:00
abstract::Diseases causing high mortality in children under 5 years of age in resource limited settings (RLS) could be treated if children in these countries had access to existing medicines. It took 30 years before the WHO Essential Medicines List (EML) considered the issue of medicines for children, with the first EML for chi...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.2009.180000
更新日期:2011-08-01 00:00:00
abstract::The foot length, occipito-frontal head circumference (OFC), crown-rump, and crown-heel length (CHL) of 123 neonates of gestational ages 26-42 weeks, were measured between 12 hours and 5 days. A gauge, designed and constructed at St Mary's Hospital, Manchester, was used to measure foot length. In term babies (37-42 wee...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.54.3.226
更新日期:1979-03-01 00:00:00
abstract::Ten intubated neonates (weights 0.90 to 2.58 kg) recovering from respiratory disease had lung mechanics, respiratory patterns, and functional residual capacity measured at 0 cmH2O continuous positive airways pressure and then after application of serially increasing levels of external expiratory resistance. At an exte...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.11.869
更新日期:1981-11-01 00:00:00
abstract::Sixteen children who had had congenital diaphragmatic herniae repaired either in the neonatal period (11), or in early childhood (5), were reviewed at between 7 and 19 years of age. Only minor abnormalities were shown in their chest x-rays and in a variety of lung function tests. This suggests that the long-term progn...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.11.902
更新日期:1977-11-01 00:00:00
abstract::The cases are described of eight children, five of them girls, who had epilepsy with myoclonic absences. The mean age of onset was 4.9 years. Brief episodes of loss of awareness with bilateral clonic jerking of the upper limbs were associated with rhythmic 3 cycles/second spike-wave discharges on electroencephalogram....
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.4.288
更新日期:1994-04-01 00:00:00
abstract::Adrenal cortical carcinoma in a 4 1/4-month-old girl was treated by surgery in combination with actinomycin D, cyclophosphamide, and 5-fluorouracil given daily for 5 days every third week for 13 1/2 months. Postoperative hypertension and raised 24-hour 17-hydroxy- and 21-oxosteroids suggested residual microscopical tu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.4.342
更新日期:1978-04-01 00:00:00
abstract:BACKGROUND:Studies have shown a correlation between increased accident rates and levels of deprivation in the community. School accident reporting is one area where an association might be expected. AIMS:To investigate differences in primary school accident rates in deprived and more affluent wards, in an area managed...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.2.91
更新日期:2002-02-01 00:00:00
abstract:BACKGROUND:Children with type 1 diabetes should be encouraged to participate in physical activity because exercise can benefit insulin sensitivity and improve known risk factors for atherosclerosis. METHODS:Physical activity patterns of 127 children and adolescents with stable type 1 diabetes were investigated by 24 h...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2005.075283
更新日期:2005-12-01 00:00:00
abstract::Patient triggered ventilation was assessed in 14 neonates (gestational age 24-40 weeks). Inspiratory changes in airflow, monitored by a pneumotachograph, were used to trigger the ventilator and this was not associated with complications. Patient triggered ventilation was maintained for up to eight hours (mean duration...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.4.394
更新日期:1988-04-01 00:00:00
abstract::Analysis of the response to corticosteroid therapy in a personal series of 8 consecutive cases of dermatomyositis in childhood shows that there are advantages in a moderate dosage, short-term treatment schedule, with gradual tapering of the dosage as soon as there is clinical improvement without waiting for full remis...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.7.494
更新日期:1976-07-01 00:00:00
abstract::The age at which retinopathy of prematurity was first seen was determined in 143 infants. In all, the initial ophthalmological examination was normal. Birth weights varied from 630 to 2700 g and gestational ages from 24.5 to 40.0 weeks. The median postnatal age at which acute retinopathy of prematurity was first seen ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.8.774
更新日期:1986-08-01 00:00:00
abstract::Malaria, as a key disease of poverty, was singled out for special attention in the Millennium Project of 2000. Recent data suggest that malaria incidence and mortality are now declining all over the world. While these figures are cause for celebration, they must be interpreted carefully and with caution, particularly ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2013-305441
更新日期:2015-02-01 00:00:00
abstract::Female genital mutilation (FGM) is almost always performed on children and consequently paediatricians should have a central role in the detection and prevention of FGM. FGM has no health benefits and can cause lifelong damage to physical and psychological health. Extensive migration of FGM practising communities mean...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/archdischild-2014-307234
更新日期:2016-03-01 00:00:00
abstract:AIMS:To study how respiratory symptoms reported by children, with or without spirometry, could help to discriminate those with asthma from those without. METHODS:Respiratory symptoms (frequent cough, frequent phlegm, and wheezing) reported by 1646 schoolchildren (aged 8-12 years) in a respiratory questionnaire and the...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.2003.033688
更新日期:2004-06-01 00:00:00
abstract::Serial small intestinal biopsies related to withdrawal and challenge with cows' milk are described in 5 infants with cows' milk protein intolerenace. On the basis of these serial observations the existence of a cows' milk-sensitive enteropathy in infancy is clearly established. The cows' milk-sensitive mucosal lesion ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.5.375
更新日期:1978-05-01 00:00:00
abstract:OBJECTIVE:To investigate the relationship between ethnicity and health outcomes among fetuses and infants with congenital left heart obstruction (LHO). DESIGN:A retrospective population-based review was conducted of fetuses and infants with LHO including all terminations, stillbirths and live births from 20 weeks' ges...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2018-315887
更新日期:2019-09-01 00:00:00
abstract::Three neonates with rectal perforations probably caused by the use of the rectal thermometer, are reported. The dangers of this condition and the difficulty of diagnosis even at laporatomy are emphasised. It is suggested that since the axillary temperature in the neonate is an adequate reflection of the core temperatu...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.10.824
更新日期:1978-10-01 00:00:00