Abstract:
OBJECTIVE:To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN:Retrospective case note review. SETTING:Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS:Children referred to determine the aetiology of EDI where a cause was not evident on history and examination. Participants were divided into two groups: EDI and no additional features (EDI-) and EDI with additional features (EDI+). MAIN OUTCOME MEASURES:The frequency a cause was found for the child's EDI and which tests contributed to a diagnosis. RESULTS:699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI- were less likely to be investigated (χ2=12.5, p<0.05). A diagnosis was made in 166 children (23.7%) and was more frequent in EDI+ (EDI- 9.9%, EDI+ 27.3%, χ2=19.0; p<0.05). Full blood count, zinc protoporphyrin, renal or liver function, bone profile, biotinidase, creatine kinase or lead level revealed no diagnoses. The following investigations found causes for EDI: MRI (23.1%), microarray (11.5%), Fragile X (0.9%), plasma amino acids (1.2%), urine organic acids (0.9%) and thyroid function tests (0.5%). CONCLUSIONS:The majority of 'screening' investigations for EDI do not contribute to a diagnosis, highlighting an area of cost saving for the NHS and reduced burden for patients and families. We propose a streamlined guideline for the investigation of EDI based on our data.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Hart AR,Sharma R,Atherton M,Alabed S,Simpson S,Barfield S,Cohen J,McGlashan N,Ravi A,Parker MJ,Connolly DJdoi
10.1136/archdischild-2017-312843subject
Has Abstractpub_date
2017-11-01 00:00:00pages
1004-1013issue
11eissn
0003-9888issn
1468-2044pii
archdischild-2017-312843journal_volume
102pub_type
杂志文章abstract::Cryptosporidium spp are a cause of diarrhoea in toddlers. Symptoms and routes of transmission were investigated in a prospective case-control study in the city and surroundings of Basel, Switzerland. Twenty one (4.6%) out of 455 children with diarrhoea who attended paediatric and general practices from June to Septemb...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.4.445
更新日期:1990-04-01 00:00:00
abstract::Glucocorticoid suppressible hyperaldosteronism (GSH) is an uncommon form of dominantly inherited hypertension. Presentation with hypertension and complications such as stroke in early life are well recognised. The use of a simple genetic test carried out on blood or placenta facilitates the detection of infants and ch...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.71.1.40
更新日期:1994-07-01 00:00:00
abstract:AIMS:To evaluate the performance of the Paediatric Risk of Mortality (PRISM) score in a population of UK children and to use this score to examine severity of illness adjusted mortality of critically ill children <16 years old in a defined geographical region. METHODS:Observational study of a defined population of cri...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.86.3.194
更新日期:2002-03-01 00:00:00
abstract:OBJECTIVE:To evaluate whether dual energy x-ray absorptiometry (DXA) and quantitative ultrasound (QUS) classify the same children as 'abnormal' (SD (z) score (SDS) ≤-2). METHODS:Speed of sound (SOS) was measured at the radius and tibia using QUS and lumbar spine bone mineral density (BMD) using DXA in 621 subjects age...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-301326
更新日期:2012-09-01 00:00:00
abstract::Diabetic control in 88 children attending three general paediatric clinics was compared prospectively over one year with that of 89 children attending a specialist paediatric diabetic clinic. Glycated haemoglobin (HbA1) concentration and days admitted were significantly lower in the group attending the specialist clin...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.1.139
更新日期:1990-01-01 00:00:00
abstract::Six newborn infants with intrauterine supraventricular tachyarrhythmias (five cases of atrial flutter and one of supraventricular tachycardia) are described. Transplacental digitalisation was attempted in three cases. Supraventricular tachycardia associated with hydrops fetalis, detected in a fetus at a gestation of 3...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.61.10.996
更新日期:1986-10-01 00:00:00
abstract:OBJECTIVE:To study the effect of modified polyunsaturated fatty acid (PUFA) profiles of complementary food on long-chain (LC) PUFA composition in healthy infants. DESIGN:Double blinded, randomised, controlled intervention trial. SETTING:Dortmund, Germany. PATIENTS:Free-living sample of healthy term infants. METHODS...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,随机对照试验
doi:10.1136/adc.2008.146027
更新日期:2009-11-01 00:00:00
abstract:AIM:To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome. METHODS:21 boys under 17 years of age with a confirmed clinical diagnosis of Aarskog syndrome were assessed using the Griffiths mental development scales and the British ability scales. RESULTS:IQ ranged...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.79.4.359
更新日期:1998-10-01 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:BACKGROUND:Neonatal autosomal-recessive polycystic kidney disease (ARPKD) is associated with pulmonary hypoplasia and severe respiratory distress. There is no published information on long-term lung function in ARPKD survivors. METHODS:Pulmonary function tests, including spirometry and diffusion capacity, were perform...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2015-308451
更新日期:2015-10-01 00:00:00
abstract::Pethidine or an epidural injection of bupivacaine are common forms of obstetric analgesia in Britain. Bupivacaine has been thought to have little effect on the fetus, but neurobehavioural studies have cast doubt on this. We therefore investigated the elimination of these drugs by babies in similar population groups. B...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.8.638
更新日期:1977-08-01 00:00:00
abstract::Eighteen children suffering from hay fever were treated with intra-nasal beclomethasone dipropionate (400 mug/day) and an identical placebo aerosol in a double-blind cross-over trial. 17 of the children preferred the intranasal beclomethasone dipropionate, one had no preference, none preferred the placebo. The effect ...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.50.11.875
更新日期:1975-11-01 00:00:00
abstract::An outbreak of adenovirus type 8 conjunctivitis occurred in seven premature infants who had undergone ophthalmological examination four to seven days previously. Three of the affected infants, treated with steroids because of bronchopulmonary dysplasia, showed systemic manifestations and deterioration of their respira...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.68.5_spec_no.610
更新日期:1993-05-01 00:00:00
abstract::Published reports on the treatment of large strawberry naevi have been reviewed. It is suggested that they should normally be left untreated, and that corticosteroids, given for a short period only, should be reserved for massive naevi close to the eye, or interfering with respiration or suckling, or associated with t...
journal_title:Archives of disease in childhood
pub_type: 杂志文章,评审
doi:10.1136/adc.51.2.138
更新日期:1976-02-01 00:00:00
abstract::Thirty-two children with a past diagnosis of coeliac disease were reinvestigated by means of gluten challenge. They had received a gluten-free diet for a mean period of 6-5 years (range 0-25-11-0) before gluten challenge, and had a mean age of 9-9 years (range 3-0-15-3) at the onset of challenge. Small intestinal biop...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.6.449
更新日期:1978-06-01 00:00:00
abstract::A problem-orientated case record was used for the investigation and management of neonatal jaundice. Investigation of babies requiring phototherapy rarely showed any abnormality but we consider that such routine investigations are worth retaining. There were problems in the interpretation of moderately low plasma conc...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.12.949
更新日期:1981-12-01 00:00:00
abstract::Clinical trials in children in resource-poor environments are essential for local health policy and practice to be relevant and evidence based. Research must be ethical, appropriate, relevant and of good quality. It should, where possible, benefit the subjects studied,the clinical, scientific and support staff involve...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/archdischild-2011-301476
更新日期:2012-09-01 00:00:00
abstract::A review of 105 children with urinary tract infection showed an increasing prevalence of grades II-III vesicoureteric reflux with diminishing age. During infancy reflux was almost always severe, and affected boys as often as girls. Radiologically scarred kidneys were drained by refluxing ureters in 98% of cases. The p...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.3.210
更新日期:1978-03-01 00:00:00
abstract::We describe the results of a prospective study in which 120 women who developed hypertension in the last trimester of pregnancy were randomly allocated in double blind manner to atenolol or placebo. The mean duration of treatment was five weeks. The only difference between groups during the neonatal period was in resp...
journal_title:Archives of disease in childhood
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1136/adc.59.11.1061
更新日期:1984-11-01 00:00:00
abstract::All 212 neonates undergoing cardiac surgery at this hospital during the 5-year period from 1976 to 1980 inclusive were reviewed. Forty required open heart surgery with 23 (57%) deaths. One hundred and seventy-four neonates underwent non-bypass procedures and could be divided into three groups: group 1 (82 patients) ha...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.58.2.137
更新日期:1983-02-01 00:00:00
abstract::Fulminant endocarditis affecting the mitral valve in an 11-year-old boy was caused by a nontoxogenic strain of Corynebacterium diphtheriae. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.51.3.227
更新日期:1976-03-01 00:00:00
abstract::Serum IgG antibodies to teichoic acid and alpha toxin from Staphylococcus aureus were measured in 62 patients with cystic fibrosis by enzyme linked immunosorbent assays. The patients were followed up for 12-24 months in a prospective study. Raised titres were found exclusively in patients chronically colonised with S ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.62.9.905
更新日期:1987-09-01 00:00:00
abstract::Of 80 children with proved coeliac disease, 2 presented with an associated disease of the distal portion of the large intestine. In one child the family history and the extension, localisation, and characteristics of intestinal lesions made us suspect ulcerative colitis; in the other we made a diagnosis of milk-induce...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.53.8.645
更新日期:1978-08-01 00:00:00
abstract::Thyroid function was studied in 54 low birthweight infants during a 3-week period. Each infant was placed in one of three groups. Group 1 (n = 21), infants who were well and appropriately grown fro gestational age; group 2 (n = 23), infants who were appropriately grown but who had hyaline membrane disease; group 3 (n ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.56.3.214
更新日期:1981-03-01 00:00:00
abstract::Among 40 hospitalized infants and children with cytomegalovirus infection, 14 (35%) had interstitial pneumonitis, 4 (10%) had wheezing or tachypnoea but without x-ray evidence of classical interstitial pneumonia, the remaining 22 (55%) were free of pulmonary involvement. Most patients had tachypnoea and nonproductive ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.52.6.441
更新日期:1977-06-01 00:00:00
abstract::A method for securing umbilical catheters is described. It has been used successfully in over 350 babies. It is a simple and rapid method that allows for easy repositioning and, unlike some established techniques, has no potential for damage to the preterm baby's skin. ...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.63.7_spec_no.750
更新日期:1988-07-01 00:00:00
abstract::A register has been compiled of the 421 children with congenital cerebral palsy born between 1960 and 1975 from a defined geographical area of North East England (population 770 000). There was a fall in the rate of cerebral palsy among very low birthweight babies between 1964 and 1975 and also in the small group with...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.12.1113
更新日期:1985-12-01 00:00:00
abstract::The association between measurements of lateral ventricle area (determined by serial ultrasound scans) and outcome was studied in 70 preterm neonates of 33 weeks' gestation or less. The study group was subdivided into four groups according to cranial ultrasonographic findings at 2 weeks postnatal age: group A (n = 15)...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.65.10_spec_no.1033
更新日期:1990-10-01 00:00:00
abstract::A 9 year old girl presented with clinical manifestations of Henoch-Schönlein syndrome and macroscopic haematuria. Laboratory investigations showed selective IgA deficiency and renal biopsy showed mesangial proliferative glomerulonephritis with diffuse granular deposits of C3 on immunofluorescence. IgA deposits were ab...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.60.2.160
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVE:To determine the prevalence of subclinical deficits in cognitive and motor function in low birthweight infants. DESIGN:Children of birth weight < or = 2000 g born to mothers resident in Merseyside in 1980-1 assessed using the Wechsler Intelligence Scale for Children (WISC), the Neale analysis of reading abil...
journal_title:Archives of disease in childhood
pub_type: 杂志文章
doi:10.1136/adc.70.4.264
更新日期:1994-04-01 00:00:00