Fifteen years of genetic testing from a London developmental clinic.

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 Child

authors

Best S,Rosser E,Bajaj M

doi

10.1136/archdischild-2017-312739

subject

Has Abstract

pub_date

2017-11-01 00:00:00

pages

1014-1018

issue

11

eissn

0003-9888

issn

1468-2044

pii

archdischild-2017-312739

journal_volume

102

pub_type

杂志文章
  • Perinatal hepatitis B virus detection by hepatitis B virus-DNA analysis.

    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

    authors: De Virgiliis S,Frau F,Sanna G,Turco MP,Figus AL,Cornacchia G,Cao A

    更新日期:1985-01-01 00:00:00

  • Injuries and the risk of disability in teenagers and young adults.

    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

    authors: Barker M,Power C,Roberts I

    更新日期:1996-08-01 00:00:00

  • Ketamine anaesthesia for medical procedures in children.

    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

    authors: Elliott E,Hanid TK,Arthur LJ,Kay B

    更新日期:1976-01-01 00:00:00

  • Interval between insulin injection and breakfast in diabetes.

    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

    authors: Sackey AH,Jefferson IG

    更新日期:1994-09-01 00:00:00

  • Severe lactose intolerance with lactosuria and vomiting.

    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

    authors: Hosková A,Sabacký J,Mrskos A,Pospísil R

    更新日期:1980-04-01 00:00:00

  • Overwhelming sepsis presenting as sudden unexpected death.

    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

    authors: Sharief N,Khan K,Conlan P

    更新日期:1993-09-01 00:00:00

  • Reduced incidence of tuberculosis by prophylactic chemotherapy in subjects showing strong reactions to tuberculin testing.

    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

    authors: Ormerod LP

    更新日期:1987-10-01 00:00:00

  • Maternal and fetal influences on blood pressure.

    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

    authors: Law CM,Barker DJ,Bull AR,Osmond C

    更新日期:1991-11-01 00:00:00

  • Munchausen syndrome by proxy.

    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

    authors: Meadow R

    更新日期:1982-02-01 00:00:00

  • Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.

    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

    authors: Knowles RL,Khalid JM,Oerton JM,Hindmarsh PC,Kelnar CJ,Dezateux C

    更新日期:2014-01-01 00:00:00

  • Recent advances in the management of infants born

    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

    authors: Berrington J,Ward Platt M

    更新日期:2016-11-01 00:00:00

  • Capillary refill: prognostic value in Kenyan children.

    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

    authors: Pamba A,Maitland K

    更新日期:2004-10-01 00:00:00

  • Ethics, governance and consent in the UK: implications for research into the longer-term outcomes of congenital heart defects.

    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

    authors: Knowles RL,Bull C,Wren C,Dezateux C

    更新日期:2011-01-01 00:00:00

  • Realities of paediatric pharmacotherapy in the developing world.

    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

    authors: Hoppu K,Sri Ranganathan S,Dodoo AN

    更新日期:2011-08-01 00:00:00

  • Foot length--a new and potentially useful measurement in the neonate.

    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

    authors: James DK,Dryburgh EH,Chiswick ML

    更新日期:1979-03-01 00:00:00

  • Use of external expiratory resistance in intubated neonates to increase lung volume.

    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

    authors: Moomjian AS,Schwartz JG,Shutack JG,Rooklin AR,Shaffer TH,Fox WW

    更新日期:1981-11-01 00:00:00

  • Lung function in children after repair of congenital diaphragmatic hernia.

    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

    authors: Kerr AA

    更新日期:1977-11-01 00:00:00

  • Epilepsy with myoclonic absences.

    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

    authors: Manonmani V,Wallace SJ

    更新日期:1994-04-01 00:00:00

  • Unusual case of adrenal cortical carcinoma in a female infant.

    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

    authors: Visconti EB,Peters RW,Cangir A,Zorn GL Jr,Fisher S

    更新日期:1978-04-01 00:00:00

  • Primary school accident reporting in one education authority.

    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

    authors: Latif AH,Williams WR,Sibert J

    更新日期:2002-02-01 00:00:00

  • Patterns of physical activity determined by heart rate monitoring among diabetic children.

    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

    authors: Massin MM,Lebrethon MC,Rocour D,Gérard P,Bourguignon JP

    更新日期:2005-12-01 00:00:00

  • Neonatal patient triggered ventilation.

    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

    authors: Greenough A,Pool J

    更新日期:1988-04-01 00:00:00

  • Treatment of dermatomyositis in childhood.

    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

    authors: Dubowitz V

    更新日期:1976-07-01 00:00:00

  • Retinopathy of prematurity: age at onset.

    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

    authors: Fielder AR,Ng YK,Levene MI

    更新日期:1986-08-01 00:00:00

  • Malaria and the Millennium Development Goals.

    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

    authors: Owens S

    更新日期:2015-02-01 00:00:00

  • Female genital mutilation: what every paediatrician should know.

    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

    authors: Creighton SM,Hodes D

    更新日期:2016-03-01 00:00:00

  • Using child reported respiratory symptoms to diagnose asthma in the community.

    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

    authors: Yu IT,Wong TW,Li W

    更新日期:2004-06-01 00:00:00

  • Cows' milk-sensitive enteropathy.

    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

    authors: Walker-Smith J,Harrison M,Kilby A,Phillips A,France N

    更新日期:1978-05-01 00:00:00

  • Congenital left heart obstruction: ethnic variation in incidence and infant survival.

    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

    authors: Cloete E,Sadler L,Bloomfield FH,Crengle S,Percival T,Gentles TL

    更新日期:2019-09-01 00:00:00

  • Thermometers and rectal perforations in the neonate.

    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

    authors: Frank JD,Brown S

    更新日期:1978-10-01 00:00:00