Liz Marder - Academia.edu (original) (raw)

Papers by Liz Marder

Paediatrics and child health, Jul 1, 2010

Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause... more Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/ 1000 live births. Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children's progress is not hampered by additional secondary but preventable disability, and so that health problems do not prevent them reaching their potential. In this article we consider the paediatrician's role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These are cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.

Down syndrome medical interest group, british association of community child health and british paediatric respiratory society, 2020

Archives of Disease in Childhood, 2012

Archives of Disease in Childhood, 1990

Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandr... more Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

Down syndrome medical interest group, british association of community child health and british paediatric respiratory society

Aims Down Syndrome (DS) is associated with increased prevalence of coeliac disease (CD). Recent m... more Aims Down Syndrome (DS) is associated with increased prevalence of coeliac disease (CD). Recent meta-analysis estimates prevalence at 5.8%. 1 The DS Medical Interest Group (DSMIG), does not recommend routine screening, despite guidance from the European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). 2 HLA-DQ haplotyping for CD has been offered for the last 3 years. 3 Method Children with DS identified from Support Needs System (SNS). In 2016, families were invited for HLA DQ haplotyping for DQ2.2 2.5& 8 (and coeliac serology). Subsequently, families invited though discussions in clinic. Children with positive typing are offered coeliac serology every 3 years (or sooner if symptomatic). Results 35 (17 female/18 male) DS children were identified. (1 child excluded as already diagnosed). 28 (76%) children have been tested. 12 (39%) had negative haplotypes, excluding them from lifelong screening. 16 (57%), tested positive (table 1). Mean age at testing was 7 years. 5 (31%) had positive coeliac serology. Of these, 3 (60%) had CD, one from each haplotype. 2 had positive serology at initial screening with positive biopsies and 1 diagnosed when rescreened. All were clinically asymptomatic. The other 2 were both DQ2.5: 1 had negative biopsy for CD but had gastritis and 1 refused biopsy. Both are being clinically monitored. Conclusions Prevalence of CD in DS in this area is currently 11% using HLA-DQ haplotyping and 3 yearly screening. All were asymptomatic at diagnosis and all successfully started on to gluten-free diet. DQ typing is effective in excluding DS children from ongoing screening. 1 3 Positive haplotyping is effective in educating parents about potential CD and risk stratification. 4 5 Three yearly coeliac serology will be performed alongside annual thyroid function tests. DQ typing can be performed at the earliest opportunity in any child prior to gluten exposure and should be a standard of care in the UK. It reduces the burden of testing for the child and the financial cost of repeated serology when symptomatic as CD is very unlikely.

Health technology assessment (Winchester, England), 2014

There is clinical uncertainty of the benefits and costs of different treatment options for childr... more There is clinical uncertainty of the benefits and costs of different treatment options for children with Down syndrome who have glue ear. This study was designed to assess the extent of this lack of knowledge and determine if pursuing further information would be practical, beneficial and cost-effective. To assess the level and practical effect of current uncertainty around treatment options for children with Down syndrome and glue ear. To assess the feasibility of studying the options for management of glue ear in children with Down syndrome via a randomised controlled trial (RCT) or multicentre prospective cohort study by evaluating the willingness of (1) parents to agree to randomisation for their children and (2) clinicians to recruit participants to a definitive study. To undertake value of information analyses to demonstrate the potential economic benefit from undertaking further research. A feasibility study exploring the views of parents of children with Down syndrome and pr...

Paediatrics and Child Health, 2014

ABSTRACT Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifia... more ABSTRACT Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000 live births.Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children’s progress is not hampered by additional secondary but preventable disability, and so that health problems do not prevent them reaching their potential.In this article we consider the paediatrician’s role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These are cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.

Archives of Disease in Childhood - Education and Practice, 2010

There is an increased incidence of congenital heart disease among children with Down syndrome. Th... more There is an increased incidence of congenital heart disease among children with Down syndrome. The most common lesion is complete atrioventricular septal defect (cAVSD). Failure to recognise this defect early in life can have very serious consequences. Hence, in this paper, we have chosen to focus more on this lesion than on others. Children with cAVSD and already irreversible pulmonary vascular disease continue to present in paediatric cardiology clinics too late for corrective surgery to be carried out. The child's future health, and indeed survival, may be severely compromised by late diagnosis. This suggests that the importance of diagnosis in the first few weeks of life is not universally recognised. The early recognition of cAVSD and other major shunt lesions is of paramount importance, but despite this, we explain that urgent indiscriminate referral to paediatric cardiologists of all newborns with the syndrome is not necessary. We will outline surveillance principles that should allow child health teams to develop effective screening protocols appropriate to local service provision and level of clinical experience and specialist interest available. In a population not affected by prenatal diagnosis, between 40% and 60% of babies born with Down syndrome have congenital heart defects. Of these, 30%–40% are cAVSDs.1,–,3 Conversely, approximately 80% of all cAVSDs occur in children with Down syndrome.4,–,6 With regard to the prevalence of other cardiac anomalies, we have not found any contemporary studies that describe, in samples of reasonable size, the frequency and range of lesions identified by echocardiography. There are several earlier studies from which we have chosen, as an illustration, two population-based studies.1 2 (table 1). View this table: Table 1 Cardiac lesions in children with Down syndrome In these two studies, because very few lesions were identified by echocardiography, findings from clinical examination, …

Paediatrics and child health, Jul 1, 2010

Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause... more Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/ 1000 live births. Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children's progress is not hampered by additional secondary but preventable disability, and so that health problems do not prevent them reaching their potential. In this article we consider the paediatrician's role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These are cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.

Down syndrome medical interest group, british association of community child health and british paediatric respiratory society, 2020

Archives of Disease in Childhood, 2012

Archives of Disease in Childhood, 1990

Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandr... more Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

Down syndrome medical interest group, british association of community child health and british paediatric respiratory society

Aims Down Syndrome (DS) is associated with increased prevalence of coeliac disease (CD). Recent m... more Aims Down Syndrome (DS) is associated with increased prevalence of coeliac disease (CD). Recent meta-analysis estimates prevalence at 5.8%. 1 The DS Medical Interest Group (DSMIG), does not recommend routine screening, despite guidance from the European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). 2 HLA-DQ haplotyping for CD has been offered for the last 3 years. 3 Method Children with DS identified from Support Needs System (SNS). In 2016, families were invited for HLA DQ haplotyping for DQ2.2 2.5& 8 (and coeliac serology). Subsequently, families invited though discussions in clinic. Children with positive typing are offered coeliac serology every 3 years (or sooner if symptomatic). Results 35 (17 female/18 male) DS children were identified. (1 child excluded as already diagnosed). 28 (76%) children have been tested. 12 (39%) had negative haplotypes, excluding them from lifelong screening. 16 (57%), tested positive (table 1). Mean age at testing was 7 years. 5 (31%) had positive coeliac serology. Of these, 3 (60%) had CD, one from each haplotype. 2 had positive serology at initial screening with positive biopsies and 1 diagnosed when rescreened. All were clinically asymptomatic. The other 2 were both DQ2.5: 1 had negative biopsy for CD but had gastritis and 1 refused biopsy. Both are being clinically monitored. Conclusions Prevalence of CD in DS in this area is currently 11% using HLA-DQ haplotyping and 3 yearly screening. All were asymptomatic at diagnosis and all successfully started on to gluten-free diet. DQ typing is effective in excluding DS children from ongoing screening. 1 3 Positive haplotyping is effective in educating parents about potential CD and risk stratification. 4 5 Three yearly coeliac serology will be performed alongside annual thyroid function tests. DQ typing can be performed at the earliest opportunity in any child prior to gluten exposure and should be a standard of care in the UK. It reduces the burden of testing for the child and the financial cost of repeated serology when symptomatic as CD is very unlikely.

Health technology assessment (Winchester, England), 2014

There is clinical uncertainty of the benefits and costs of different treatment options for childr... more There is clinical uncertainty of the benefits and costs of different treatment options for children with Down syndrome who have glue ear. This study was designed to assess the extent of this lack of knowledge and determine if pursuing further information would be practical, beneficial and cost-effective. To assess the level and practical effect of current uncertainty around treatment options for children with Down syndrome and glue ear. To assess the feasibility of studying the options for management of glue ear in children with Down syndrome via a randomised controlled trial (RCT) or multicentre prospective cohort study by evaluating the willingness of (1) parents to agree to randomisation for their children and (2) clinicians to recruit participants to a definitive study. To undertake value of information analyses to demonstrate the potential economic benefit from undertaking further research. A feasibility study exploring the views of parents of children with Down syndrome and pr...

Paediatrics and Child Health, 2014

ABSTRACT Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifia... more ABSTRACT Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000 live births.Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children’s progress is not hampered by additional secondary but preventable disability, and so that health problems do not prevent them reaching their potential.In this article we consider the paediatrician’s role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These are cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.

Archives of Disease in Childhood - Education and Practice, 2010

There is an increased incidence of congenital heart disease among children with Down syndrome. Th... more There is an increased incidence of congenital heart disease among children with Down syndrome. The most common lesion is complete atrioventricular septal defect (cAVSD). Failure to recognise this defect early in life can have very serious consequences. Hence, in this paper, we have chosen to focus more on this lesion than on others. Children with cAVSD and already irreversible pulmonary vascular disease continue to present in paediatric cardiology clinics too late for corrective surgery to be carried out. The child's future health, and indeed survival, may be severely compromised by late diagnosis. This suggests that the importance of diagnosis in the first few weeks of life is not universally recognised. The early recognition of cAVSD and other major shunt lesions is of paramount importance, but despite this, we explain that urgent indiscriminate referral to paediatric cardiologists of all newborns with the syndrome is not necessary. We will outline surveillance principles that should allow child health teams to develop effective screening protocols appropriate to local service provision and level of clinical experience and specialist interest available. In a population not affected by prenatal diagnosis, between 40% and 60% of babies born with Down syndrome have congenital heart defects. Of these, 30%–40% are cAVSDs.1,–,3 Conversely, approximately 80% of all cAVSDs occur in children with Down syndrome.4,–,6 With regard to the prevalence of other cardiac anomalies, we have not found any contemporary studies that describe, in samples of reasonable size, the frequency and range of lesions identified by echocardiography. There are several earlier studies from which we have chosen, as an illustration, two population-based studies.1 2 (table 1). View this table: Table 1 Cardiac lesions in children with Down syndrome In these two studies, because very few lesions were identified by echocardiography, findings from clinical examination, …