Abstract:
OBJECTIVE:Angelman syndrome (AS) is a rare congenital neurodevelopmental disorder with complex genetic aetiology. Diagnosis may be difficult and there is severe life-long disability. An AS clinic was commenced in Sydney, Australia, in 1993 with the aim of gathering information about the natural history of AS, management issues and parental concerns. METHODOLOGY:Patients were referred from metropolitan Sydney, rural New South Wales and interstate. A questionnaire, history, physical examination and diagnostic tests were undertaken. RESULTS:In the first year, 24 patients with AS were assessed. There were 11 males and 13 females, whose ages ranged from 3 to 30 years. The mean age of diagnosis was 12.8 years. The diagnosis was made by neurologists in four cases, by clinical geneticists in three cases, by paediatricians in two cases and 15 cases were diagnosed at the AS clinic. A clear history of epilepsy was obtained in 19 (79%) and in 15 of these patients the age of onset was during the first 4 years of life. An EEG had been performed in 21 patients, and in two the EEG was reported as normal. Fifteen of the patients (62.5%) could walk independently and in this cohort there was a significant sex difference in walking: 10/11 males compared to 5/13 females (P > 0.01). Five patients (21%) were in full-time permanent care. Genetic testing with appropriate DNA probes from chromosome 15 (q11-13), complete in 20 families, showed deletion in 12 patients (60%),uniparental disomy in 1(5%) and no detectable abnormality in 7 (35%). CONCLUSIONS:The diagnosis of AS should be considered in any patient with severe developmental disability particularly if there is a movement disorder and lack of speech. The control of epilepsy is a major management problem. Further research is needed to establish the frequency and type of seizures, the response to anticonvulsants and to determine if improvement can be expected with age. The mobility of patients should be assessed regularly, to determine the most appropriate options for intervention.
journal_name
J Paediatr Child Healthjournal_title
Journal of paediatrics and child healthauthors
Leitner RP,Smith Adoi
10.1111/j.1440-1754.1996.tb00902.xsubject
Has Abstractpub_date
1996-04-01 00:00:00pages
94-8issue
2eissn
1034-4810issn
1440-1754journal_volume
32pub_type
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00187.x
更新日期:2003-08-01 00:00:00
abstract:AIM:Describe breast- and bottle-feeding patterns and the introduction of solid feeds and sugar containing drinks to the dietary intake of a cohort of urban Aboriginal infants in the first year of life. METHODS:Two hundred and seventy-four infants were recruited to a cohort study and information about infant nutrition ...
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pub_type: 杂志文章
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更新日期:2010-07-01 00:00:00
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journal_title:Journal of paediatrics and child health
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doi:10.1046/j.1440-1754.2002.00052.x
更新日期:2002-12-01 00:00:00
abstract::Atopic dermatitis is a disorder with considerable social and financial costs. A recent Australian study indicates that the family stress related to the care of a child with moderate or severe atopic dermatitis is significantly greater than that of care of children with insulin-dependent diabetes mellitus. The factors ...
journal_title:Journal of paediatrics and child health
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doi:10.1046/j.1440-1754.1999.00343.x
更新日期:1999-06-01 00:00:00
abstract:AIM:Viral bronchiolitis is the most common lower respiratory tract infection in children less than 12 months of age. Prematurity is an independent risk factor for disease severity. Many infected infants require hospitalisation and those living in regional centres frequently require transfer to metropolitan hospitals ca...
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doi:10.1111/jpc.12025
更新日期:2013-03-01 00:00:00
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journal_title:Journal of paediatrics and child health
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doi:10.1046/j.1440-1754.2001.00568.x
更新日期:2001-02-01 00:00:00
abstract::We describe three cousins who presented with agitation, dysphasia and/or coma, and developed hemiplegia following initial onset of symptoms. Two cases followed minor head injuries, two were pyrexial and two were associated with neutrophilia. Two cases required ventilatory support on the intensive care unit. Magnetic r...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2009.01465.x
更新日期:2009-03-01 00:00:00
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journal_title:Journal of paediatrics and child health
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更新日期:2010-05-01 00:00:00
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doi:10.1111/jpc.12128
更新日期:2013-03-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.15247
更新日期:2020-11-03 00:00:00
abstract::A baby with ambiguous genitalia and 46XY chromosomes was raised as a female. Sudden and unexpected death at 11 months of age led to a post-mortem diagnosis of Drash syndrome. ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1990.tb02436.x
更新日期:1990-08-01 00:00:00
abstract:AIMS:This article compares the severity of illness scoring systems clinical risk index for babies (CRIB)-II and score for neonatal acute physiology with perinatal extension (SNAPPE)-II for discriminatory ability and goodness of fit in the same cohort of babies of less than 32 weeks gestation and aims to provide validat...
journal_title:Journal of paediatrics and child health
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doi:10.1111/jpc.12742
更新日期:2015-05-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01158.x
更新日期:2007-09-01 00:00:00
abstract::Maternal fetal medicine (MFM) is a subspecialty of obstetrics that focuses on identified risk pregnancies. The role includes obstetric ultrasound for fetal assessment and diagnosis of anomalies, invasive prenatal diagnosis and management of pregnancies complicated by maternal medical disorders, multiple fetuses and th...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.2012.02596.x
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:To examine how changes in the rates of sudden infant death syndrome (SIDS) have varied in different income groups during a 25 year period. METHODOLOGY:Census data were obtained for five census periods (1971, 1976, 1981, 1986 and 1991) on the number of SIDS cases and inevitable deaths. Census area units (CAU)...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1995.tb00848.x
更新日期:1995-10-01 00:00:00
abstract:OBJECTIVES:To evaluate the usefulness of a microelectronic tablet-dispenser for monitoring adherence to preventive therapy for tuberculosis infection in adolescents. METHODOLOGY:Twenty-one patients with positive Mantoux tests were treated with isoniazid (INH), dispensed in a microelectronic tablet-dispenser that recor...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1999.00371.x
更新日期:1999-08-01 00:00:00
abstract::Hand-foot-and-mouth disease is a common, usually mild childhood illness caused by enteroviruses. Over the last five years, coxsackievirus A6 has been identified as a causative agent in outbreaks in Europe, South-East Asia and America. It has an atypical presentation compared with other enteroviruses, with more widespr...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.12708
更新日期:2014-10-01 00:00:00
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doi:10.1111/jpc.13271
更新日期:2016-11-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.1992.tb02675.x
更新日期:1992-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1440-1754.2008.01322.x
更新日期:2008-07-01 00:00:00
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journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.1998.00182.x
更新日期:1998-04-01 00:00:00
abstract::Congenital rubella syndrome can be associated with disgammaglobulinaemia and autoimmune phenomena in adult and paediatric population. The aim of this article is to present the association between a congenital rubella syndrome with hypogammaglobulinaemia and hyper IgM diagnosed at the age of 8 months and autoimmune man...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2007.01144.x
更新日期:2007-10-01 00:00:00
abstract::An 11-year-old Caucasian male with history of abdominal pain, diarrhoea, fatigue, emesis and fever on the previous days presented with dehydratation, shock and acute mesenteric ischaemia. Final diagnosis of Addison's disease was made. ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2012.02556.x
更新日期:2013-06-01 00:00:00
abstract::These guidelines have been developed by the anaphylaxis working party of the Australasian Society of Clinical Immunology and Allergy to provide advice for minimizing the risk of food-induced anaphylaxis in schools, preschools and child-care centres. The guidelines outline four steps for the prevention of food anaphyla...
journal_title:Journal of paediatrics and child health
pub_type: 指南,杂志文章
doi:10.1111/j.1440-1754.2004.00509.x
更新日期:2004-12-01 00:00:00
abstract:OBJECTIVE:To identify barriers to the use of trained interpreters in emergency department (ED) paediatric consultations. METHODS:A cross-sectional survey of non-English-speaking-background (NESB) carers who presented a child aged 14 years or less to the Fairfield Hospital ED during a 3-month period was undertaken usin...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1046/j.1440-1754.2003.00135.x
更新日期:2003-05-01 00:00:00
abstract:AIM:Chest compression depth (CCD) decreases significantly when performing one-handed chest compression (OHCC). We modified OHCC posture to increase CCD as follows: first, the axis of the compression hand was adjusted to the compression area; second, the opposite hand was wrapped around the elbow of the compression arm....
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.14422
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To explore the ways asthma may be defined in childhood and consider the current evidence to support these possible definitions. METHODOLOGY:The relationship of symptoms, atopy, bronchial hyperresponsiveness (BHR) and airway inflammation in defining childhood asthma is reviewed. RESULTS:While none of the fou...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1754.1995.tb00809.x
更新日期:1995-08-01 00:00:00
abstract:AIM:Despite Australia's high vaccination rates, an estimated 3.3% of children are under-vaccinated due to vaccine refusal and the proportion of parents with concerns is unclear. Amongst Australian parents, we aimed to determine the prevalence of vaccine concerns, resources and health-care providers (HCPs) accessed and ...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/jpc.13790
更新日期:2018-05-01 00:00:00
abstract:AIM:Medication adherence is poor in many young people with chronic illness. However, little research has examined medication adherence in clinic samples of young people receiving psychotropic medication, and whether factors such as disorder or drug type influence adherence. This study aimed to examine medication adhere...
journal_title:Journal of paediatrics and child health
pub_type: 杂志文章
doi:10.1111/j.1440-1754.2010.01985.x
更新日期:2011-06-01 00:00:00