Edna Roche - Academia.edu (original) (raw)
Papers by Edna Roche
BMC Immunology, Nov 3, 2018
Abstracts, Jun 1, 2019
Throughout the following year the number of children not suffering from severe respiratory infect... more Throughout the following year the number of children not suffering from severe respiratory infection was 1.5 times higher, than in the control group (p = 0.0002). In a year's time in the core group the number of severe bronchitis cases reduced by 85.7% and no non-invasive pneumonias were recorded. In the control group the cases of diseases mentioned above reduced by 32.5% and 50% correspondently. Significantly less rarelyby 82% and 44.3% did acute otitis media occur. In 12 months' time symptoms of chronical tonsillitis definitely reduced by 89.2% и 41.6%, relapses of chronical adenoiditis were only recorded in 22.9% и 37.6% of research participants. It is stated that the frequency of severe bronchitis (p = 0.0186), severe otitis (p = 0.0128), tonsillitis relapses (p = 0.0189) and adenoiditis (p = 0.0423), definitely differed in groups of children only vaccinated with PCV13 and prepared for vaccination using a2b-interferon. Conclusions The usage of recombinant a2b-interferon for prevaccination preparation allows us to conduct PCV13 vaccination in children suffering from recurrent respiratory infections more efficiently thus providing non-specific and specific protection of children's organisms. The data obtained clearly demonstrate that the usage of a2b-interferon as a non-specific remedy for severe respiratory infections proves safe and efficient.
Journal of Pediatric Endocrinology and Metabolism, 2012
Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a consi... more Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be over diagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according to consensus guidelines.
Archives of Disease in Childhood, May 30, 2013
The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general po... more The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general population1 and screening has been recommended in asymptomatic individuals known to have an increased risk of developing the disease.2 In light of this recommendation, we set out to determine the prevalence of CD in Irish girls with TS. The presence of CD was assessed by measuring serum immunoglobulin (Ig)A and IgA antitissue transglutaminase (IgA-tTG) values. IgG-tTG values were not measured because all participants proved to have …
Journal of Pediatric Endocrinology and Metabolism, 2014
To evaluate health-related quality of life (HRQoL) in a group of girls with Turner syndrome (TS) ... more To evaluate health-related quality of life (HRQoL) in a group of girls with Turner syndrome (TS) and determine its relation to key features of the condition. HRQoL was assessed with the short-form health survey (SF-36). Of the 35 girls, 32 [mean (SD) age: 16.7 (2.61) years], of whom 28 (87.6%) received growth hormone therapy, agreed to participitate. Compared with the general population, girls with TS have lower scores in the physical functioning domain of HRQoL. However, they have similar HRQoL as their peers in other dimensions. There was a negative and significant association between the postmenarchal status and the social functioning domain of HRQoL. Age at growth hormone treatment initiation has a negative impact on the general health domain. Age at growth hormone initiation, bone mineral apparent density (BMAD) and the prevalence of skeletal anomalies negatively influence the vitality domain. HRQoL scores in the physical function domain were negatively associated with BMAD and positively associated with height. Compared with the general population, Irish girls with TS have similar HRQoL in most of domains as their peers. Postmenarchal status, height, age at growth hormone initiation, BMAD and skeletal anomalies showed significant association with at least one domain of HRQOL.
Clinical Endocrinology, Aug 4, 2016
Objective Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, ce... more Objective Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSHbased congenital hypothyroidism (CH) screening programmes in the UK and Ireland. Accordingly, genetic diagnosis, enabling ascertainment of affected relatives in families, is critical for prompt diagnosis and treatment of the disorder. Design, Patients and Measurements Four cases of isolated TSH deficiency from three unrelated families in the UK and Ireland were investigated for mutations or deletions in TSHB. Haplotype analysis, to investigate a founder effect, was undertaken in cases with identical mutations (c.373delT). Results Two siblings in kindred 1 were homozygous for a previously described TSHB mutation (c.373delT). In kindreds 2 and 3, the affected individuals were compound heterozygous for TSHB c.373delT and either a 5Á4-kB TSHB deletion (kindred 2, c.1-4389_417*195delinsCTCA) or a novel TSHB missense mutation (kindred 3, c.2T>C, p.Met1?). Neurodevelopmental retardation, following delayed diagnosis and treatment, was present in 3 cases. In contrast, the younger sibling in kindred 1 developed normally following genetic diagnosis and treatment from birth. Conclusions This study, including the identification of a second, novel, TSHB deletion, expands the molecular spectrum of TSHB defects and suggests that allele loss may be a commoner basis for TSH deficiency than previously suspected. Delayed diagnosis and treatment of profound central hypothyroidism in such cases result in neurodevelopmental retardation. Inclusion of thyroxine (T4) plus thyroxine-binding globulin (TBG), or free thyroxine (FT4) in CH screening, together with genetic case ascertainment enabling earlier therapeutic intervention, could prevent such adverse sequelae.
European Journal of Pediatrics, Sep 22, 2016
The Irish Childhood Diabetes National Register (ICDNR) was established in 2008 to define accurate... more The Irish Childhood Diabetes National Register (ICDNR) was established in 2008 to define accurately the incidence and monitor the epidemiology of type 1 diabetes (T1D) in the Irish population. Here, we report data from the first 6 years of the National Register and compare with previous national data. Prospective national incident data regarding T1D in those under 15 years resident in Ireland were collected from 2008 to 2013 and national incidence rates (IRs) calculated. Ascertainment completeness was assessed using capture-recapture methodology. The period identified 1566 new cases of T1D, ascertainment reached 96.8 % in 2013. The standardised incidence rate was 27.5 in 2008 stabilising at 28.7 and 28.8 cases /100,000/year in 2012 and 2013. There was no evidence that the incidence changed significantly in the 6-year period either overall or for each age group and gender. There was evidence of a difference in the incidence of T1D across the age groups with the overall incidence highest in the 10-14 year age category. A strong seasonal association was demonstrated. Conclusions: This study confirms Ireland as a highincidence country for type 1 diabetes whilst demonstrating that the previous marked increase in IR from 16.3 cases/ 100,000/year in 1997 has not continued. Ongoing monitoring through the robust mechanism of the ICDNR is required to clarify whether this is a fluctuation or if the incidence of T1D diabetes has stopped rising in our population. Alternatively, this apparent stabilisation may reflect a shift to a later age at diagnosis.
European Journal of Pediatrics
International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent da... more International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent data from Ireland and other high incidence countries suggested a stabilisation in IRs of T1D in children aged under 15 years. Our primary objective was to report the IR of T1D in children in Ireland from 2019 to 2021 and evaluate if age, sex and season of diagnosis had changed. Incident cases of T1D in those aged under 15 years were identified prospectively by clinicians nationally and reported to the Irish Childhood Diabetes National Register (ICDNR). Following case verification, capture-recapture methodology was applied, and IRs calculated. Numbers of children including age, sex and season of diagnosis per year were evaluated. There were 1027 cases, 542 males (53%). The direct standardised incidence rates (SIRs) increased by 21% overall and were 31.1, 32.2 and 37.6/100,000/year, respectively, with no significant sex difference. The highest IRs were in the 10–14-year category until 2021, ...
The Journal of Clinical Endocrinology & Metabolism
Diabetes Research and Clinical Practice
To investigate adolescents' communication with healthcare providers (HCPs) and co-design ... more To investigate adolescents' communication with healthcare providers (HCPs) and co-design a question prompt list as one part of an intervention to increase patient participation and communication at diabetes clinic visits. Methods: Using an adolescent-led co-design approach we conducted interviews and focus groups with adolescents, parents, and healthcare providers (HCPs) and held workshops with both a Youth Advisory Group (YAG) and a Parent Advisory Group (PAG). Results: Adolescents and parents identified challenges categorised into four themes: negative experience communicating with HCPs, lacking patient education leading to disinterest, low self-confidence out of fear of being wrong and forgetting to ask question(s). Adolescents identified that a Question Prompt List (QPL) could help them to ask questions, be more confident and participate more. The design process was an iterative development that engaged all stakeholders. Parents and HCPs assumed adolescents had greater knowledge about diabetes than they had in reality. Conclusions: Divergence in perceptions between adults and adolescents regarding patient knowledge of diabetes care demonstrates the importance of encouraging adolescents to ask the questions that matter to them. The QPL could be a useful means of supporting adolescents to actively participate in clinic encounters with healthcare providers.
The Journal of Clinical Endocrinology & Metabolism
Context Growth hormone (GH) is used to treat short children born small for gestational age (SGA);... more Context Growth hormone (GH) is used to treat short children born small for gestational age (SGA); however, the effects of treatment on pubertal timing and adult height are rarely studied. Objective To evaluate adult height and peak height velocity in short GH-treated SGA children. Methods Prospective longitudinal multicenter study. Participants were short children born SGA treated with GH therapy (n = 102). Adult height was reported in 47 children. A reference cohort of Danish children was used. Main outcome measures were adult height, peak height velocity, age at peak height, and pubertal onset. Pubertal onset was converted to SD score (SDS) using Danish reference data. Results Gain in height SDS from start of treatment until adult height was significant in both girls (0.94 [0.75; 1.53] SDS, P = .02) and boys (1.57 [1.13; 2.15] SDS, P < .001). No difference in adult height between GH dosage groups was observed. Peak height velocity was lower than a reference cohort for girls (6....
Archives of Disease in Childhood, 2022
SEARCH STRATEGY PubMed and MEDLINE were searched in October 2020 for eligible articles regarding ... more SEARCH STRATEGY PubMed and MEDLINE were searched in October 2020 for eligible articles regarding Down syndrome using the following search terms: ((Down(s) syndrome OR Trisomy 21 OR partial Trisomy 21 OR mosaicism) AND (neonate OR newborn OR infant OR baby) AND (parent(s) OR family OR families OR mother(s) OR father(s) AND (diagnosis OR perception OR experience OR acceptance)). Titles and abstracts were reviewed, and duplicates were removed. Three hundred thirtythree abstracts were screened, three extracted and one included. Literature was included if it provided recommendations for disclosure of a postnatal diagnosis of DS. Literature was excluded if it was not written in English, or only provided information regarding the disclosure of a prenatal diagnosis of DS. A hand search of the references was also performed, contributing six additional papers. This resulted in the total inclusion of seven papers from both avenues (table 1).
Journal of Pediatric Endocrinology, 2021
Introduction: Patients with Type 1 Diabetes (T1D) are at high risk of developing vascular complic... more Introduction: Patients with Type 1 Diabetes (T1D) are at high risk of developing vascular complications. Endothelial Dysfunction (ED) is the early reversible stage of vascular disease. Aim: Poor Diabetic control is associated with ED. Based on a hypothesis we aimed to determine the relationship between metabolic control and endothelial function in a cohort of adolescents with T1D. Methods: 42 adolescents with T1D were recruited. Weights, heights and BMI were recorded. Blood pressure was measured, followed by assessment of Reactive hyperaemia index (RHI) by Endo-PAT. Fasting blood samples were taken for evaluation of HbA1c, liver, renal function, lipid profile. Inflammatory markers (adiponectin, leptin, thrombomodulin, serum Intravascular Adhesion Molecules (sICAM), E-Selectin and p-Selectin) were measured in 20 patients. Urinary microalbumin to creatinine ratio measured. Participants completed a physical activity questionnaire. Baseline data included the date of diagnosis, duration ...
Frontiers in Pediatrics, 2021
Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or mov... more Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or movement, causing activity limitation, due to a lesion in the developing brain. CP is an umbrella term for a heterogenous condition and is, therefore, descriptive rather than a diagnosis. Each case requires detailed consideration of etiology. Our understanding of the underlying cause of CP has developed significantly, with areas such as inflammation, epigenetics and genetic susceptibility to subsequent insults providing new insights. Alongside this, there has been increasing recognition of the multi-organ dysfunction (MOD) associated with CP, in particular in children with higher levels of motor impairment. Therefore, CP should not be seen as an unchanging disorder caused by a solitary insult but rather, as a condition which evolves over time. Assessment of multi-organ function may help to prevent complications in later childhood or adulthood. It may also contribute to an improved understan...
Diabetologia, 2018
Aims/hypothesis Against a background of a near-universally increasing incidence of childhood type... more Aims/hypothesis Against a background of a near-universally increasing incidence of childhood type 1 diabetes, recent reports from some countries suggest a slowing in this increase. Occasional reports also describe cyclical variations in incidence, with periodicities of between 4 and 6 years. Methods Age/sex-standardised incidence rates for the 0-to 14-year-old age group are reported for 26 European centres (representing 22 countries) that have registered newly diagnosed individuals in geographically defined regions for up to 25 years during the period 1989-2013. Poisson regression was used to estimate rates of increase and test for cyclical patterns. Joinpoint regression software was used to fit segmented log-linear relationships to incidence trends. Results Significant increases in incidence were noted in all but two small centres, with a maximum rate of increase of 6.6% per annum in a Polish centre. Several centres in high-incidence countries showed reducing rates of increase in more recent years. Despite this, a pooled analysis across all centres revealed a 3.4% (95% CI 2.8%, 3.9%) per annum increase in incidence rate, although there was some suggestion of a reduced rate of increase in the 2004-2008 period. Rates of increase were similar in boys and girls in the 0-to 4-year-old age group (3.7% and 3.7% per annum, respectively) and in the 5-to 9-year-old age group (3.4% and 3.7% per annum, respectively), but were higher in boys than girls in the 10-to 14-year-old age group (3.3% and 2.6% per annum, respectively). Significant 4 year periodicity was detected in four centres, with three centres showing that the most recent peak in fitted rates occurred in 2012. Conclusions/interpretation Despite reductions in the rate of increase in some high-risk countries, the pooled estimate across centres continues to show a 3.4% increase per annum in incidence rate, suggesting a doubling in incidence rate within approximately 20 years in Europe. Although four centres showed support for a cyclical pattern of incidence with a 4 year periodicity, no plausible explanation for this can be given.
Irish medical journal, 2005
BMC Immunology, Nov 3, 2018
Abstracts, Jun 1, 2019
Throughout the following year the number of children not suffering from severe respiratory infect... more Throughout the following year the number of children not suffering from severe respiratory infection was 1.5 times higher, than in the control group (p = 0.0002). In a year's time in the core group the number of severe bronchitis cases reduced by 85.7% and no non-invasive pneumonias were recorded. In the control group the cases of diseases mentioned above reduced by 32.5% and 50% correspondently. Significantly less rarelyby 82% and 44.3% did acute otitis media occur. In 12 months' time symptoms of chronical tonsillitis definitely reduced by 89.2% и 41.6%, relapses of chronical adenoiditis were only recorded in 22.9% и 37.6% of research participants. It is stated that the frequency of severe bronchitis (p = 0.0186), severe otitis (p = 0.0128), tonsillitis relapses (p = 0.0189) and adenoiditis (p = 0.0423), definitely differed in groups of children only vaccinated with PCV13 and prepared for vaccination using a2b-interferon. Conclusions The usage of recombinant a2b-interferon for prevaccination preparation allows us to conduct PCV13 vaccination in children suffering from recurrent respiratory infections more efficiently thus providing non-specific and specific protection of children's organisms. The data obtained clearly demonstrate that the usage of a2b-interferon as a non-specific remedy for severe respiratory infections proves safe and efficient.
Journal of Pediatric Endocrinology and Metabolism, 2012
Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a consi... more Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be over diagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according to consensus guidelines.
Archives of Disease in Childhood, May 30, 2013
The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general po... more The risk of developing coeliac disease (CD) is higher in Turner syndrome (TS) than the general population1 and screening has been recommended in asymptomatic individuals known to have an increased risk of developing the disease.2 In light of this recommendation, we set out to determine the prevalence of CD in Irish girls with TS. The presence of CD was assessed by measuring serum immunoglobulin (Ig)A and IgA antitissue transglutaminase (IgA-tTG) values. IgG-tTG values were not measured because all participants proved to have …
Journal of Pediatric Endocrinology and Metabolism, 2014
To evaluate health-related quality of life (HRQoL) in a group of girls with Turner syndrome (TS) ... more To evaluate health-related quality of life (HRQoL) in a group of girls with Turner syndrome (TS) and determine its relation to key features of the condition. HRQoL was assessed with the short-form health survey (SF-36). Of the 35 girls, 32 [mean (SD) age: 16.7 (2.61) years], of whom 28 (87.6%) received growth hormone therapy, agreed to participitate. Compared with the general population, girls with TS have lower scores in the physical functioning domain of HRQoL. However, they have similar HRQoL as their peers in other dimensions. There was a negative and significant association between the postmenarchal status and the social functioning domain of HRQoL. Age at growth hormone treatment initiation has a negative impact on the general health domain. Age at growth hormone initiation, bone mineral apparent density (BMAD) and the prevalence of skeletal anomalies negatively influence the vitality domain. HRQoL scores in the physical function domain were negatively associated with BMAD and positively associated with height. Compared with the general population, Irish girls with TS have similar HRQoL in most of domains as their peers. Postmenarchal status, height, age at growth hormone initiation, BMAD and skeletal anomalies showed significant association with at least one domain of HRQOL.
Clinical Endocrinology, Aug 4, 2016
Objective Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, ce... more Objective Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSHbased congenital hypothyroidism (CH) screening programmes in the UK and Ireland. Accordingly, genetic diagnosis, enabling ascertainment of affected relatives in families, is critical for prompt diagnosis and treatment of the disorder. Design, Patients and Measurements Four cases of isolated TSH deficiency from three unrelated families in the UK and Ireland were investigated for mutations or deletions in TSHB. Haplotype analysis, to investigate a founder effect, was undertaken in cases with identical mutations (c.373delT). Results Two siblings in kindred 1 were homozygous for a previously described TSHB mutation (c.373delT). In kindreds 2 and 3, the affected individuals were compound heterozygous for TSHB c.373delT and either a 5Á4-kB TSHB deletion (kindred 2, c.1-4389_417*195delinsCTCA) or a novel TSHB missense mutation (kindred 3, c.2T>C, p.Met1?). Neurodevelopmental retardation, following delayed diagnosis and treatment, was present in 3 cases. In contrast, the younger sibling in kindred 1 developed normally following genetic diagnosis and treatment from birth. Conclusions This study, including the identification of a second, novel, TSHB deletion, expands the molecular spectrum of TSHB defects and suggests that allele loss may be a commoner basis for TSH deficiency than previously suspected. Delayed diagnosis and treatment of profound central hypothyroidism in such cases result in neurodevelopmental retardation. Inclusion of thyroxine (T4) plus thyroxine-binding globulin (TBG), or free thyroxine (FT4) in CH screening, together with genetic case ascertainment enabling earlier therapeutic intervention, could prevent such adverse sequelae.
European Journal of Pediatrics, Sep 22, 2016
The Irish Childhood Diabetes National Register (ICDNR) was established in 2008 to define accurate... more The Irish Childhood Diabetes National Register (ICDNR) was established in 2008 to define accurately the incidence and monitor the epidemiology of type 1 diabetes (T1D) in the Irish population. Here, we report data from the first 6 years of the National Register and compare with previous national data. Prospective national incident data regarding T1D in those under 15 years resident in Ireland were collected from 2008 to 2013 and national incidence rates (IRs) calculated. Ascertainment completeness was assessed using capture-recapture methodology. The period identified 1566 new cases of T1D, ascertainment reached 96.8 % in 2013. The standardised incidence rate was 27.5 in 2008 stabilising at 28.7 and 28.8 cases /100,000/year in 2012 and 2013. There was no evidence that the incidence changed significantly in the 6-year period either overall or for each age group and gender. There was evidence of a difference in the incidence of T1D across the age groups with the overall incidence highest in the 10-14 year age category. A strong seasonal association was demonstrated. Conclusions: This study confirms Ireland as a highincidence country for type 1 diabetes whilst demonstrating that the previous marked increase in IR from 16.3 cases/ 100,000/year in 1997 has not continued. Ongoing monitoring through the robust mechanism of the ICDNR is required to clarify whether this is a fluctuation or if the incidence of T1D diabetes has stopped rising in our population. Alternatively, this apparent stabilisation may reflect a shift to a later age at diagnosis.
European Journal of Pediatrics
International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent da... more International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent data from Ireland and other high incidence countries suggested a stabilisation in IRs of T1D in children aged under 15 years. Our primary objective was to report the IR of T1D in children in Ireland from 2019 to 2021 and evaluate if age, sex and season of diagnosis had changed. Incident cases of T1D in those aged under 15 years were identified prospectively by clinicians nationally and reported to the Irish Childhood Diabetes National Register (ICDNR). Following case verification, capture-recapture methodology was applied, and IRs calculated. Numbers of children including age, sex and season of diagnosis per year were evaluated. There were 1027 cases, 542 males (53%). The direct standardised incidence rates (SIRs) increased by 21% overall and were 31.1, 32.2 and 37.6/100,000/year, respectively, with no significant sex difference. The highest IRs were in the 10–14-year category until 2021, ...
The Journal of Clinical Endocrinology & Metabolism
Diabetes Research and Clinical Practice
To investigate adolescents' communication with healthcare providers (HCPs) and co-design ... more To investigate adolescents' communication with healthcare providers (HCPs) and co-design a question prompt list as one part of an intervention to increase patient participation and communication at diabetes clinic visits. Methods: Using an adolescent-led co-design approach we conducted interviews and focus groups with adolescents, parents, and healthcare providers (HCPs) and held workshops with both a Youth Advisory Group (YAG) and a Parent Advisory Group (PAG). Results: Adolescents and parents identified challenges categorised into four themes: negative experience communicating with HCPs, lacking patient education leading to disinterest, low self-confidence out of fear of being wrong and forgetting to ask question(s). Adolescents identified that a Question Prompt List (QPL) could help them to ask questions, be more confident and participate more. The design process was an iterative development that engaged all stakeholders. Parents and HCPs assumed adolescents had greater knowledge about diabetes than they had in reality. Conclusions: Divergence in perceptions between adults and adolescents regarding patient knowledge of diabetes care demonstrates the importance of encouraging adolescents to ask the questions that matter to them. The QPL could be a useful means of supporting adolescents to actively participate in clinic encounters with healthcare providers.
The Journal of Clinical Endocrinology & Metabolism
Context Growth hormone (GH) is used to treat short children born small for gestational age (SGA);... more Context Growth hormone (GH) is used to treat short children born small for gestational age (SGA); however, the effects of treatment on pubertal timing and adult height are rarely studied. Objective To evaluate adult height and peak height velocity in short GH-treated SGA children. Methods Prospective longitudinal multicenter study. Participants were short children born SGA treated with GH therapy (n = 102). Adult height was reported in 47 children. A reference cohort of Danish children was used. Main outcome measures were adult height, peak height velocity, age at peak height, and pubertal onset. Pubertal onset was converted to SD score (SDS) using Danish reference data. Results Gain in height SDS from start of treatment until adult height was significant in both girls (0.94 [0.75; 1.53] SDS, P = .02) and boys (1.57 [1.13; 2.15] SDS, P < .001). No difference in adult height between GH dosage groups was observed. Peak height velocity was lower than a reference cohort for girls (6....
Archives of Disease in Childhood, 2022
SEARCH STRATEGY PubMed and MEDLINE were searched in October 2020 for eligible articles regarding ... more SEARCH STRATEGY PubMed and MEDLINE were searched in October 2020 for eligible articles regarding Down syndrome using the following search terms: ((Down(s) syndrome OR Trisomy 21 OR partial Trisomy 21 OR mosaicism) AND (neonate OR newborn OR infant OR baby) AND (parent(s) OR family OR families OR mother(s) OR father(s) AND (diagnosis OR perception OR experience OR acceptance)). Titles and abstracts were reviewed, and duplicates were removed. Three hundred thirtythree abstracts were screened, three extracted and one included. Literature was included if it provided recommendations for disclosure of a postnatal diagnosis of DS. Literature was excluded if it was not written in English, or only provided information regarding the disclosure of a prenatal diagnosis of DS. A hand search of the references was also performed, contributing six additional papers. This resulted in the total inclusion of seven papers from both avenues (table 1).
Journal of Pediatric Endocrinology, 2021
Introduction: Patients with Type 1 Diabetes (T1D) are at high risk of developing vascular complic... more Introduction: Patients with Type 1 Diabetes (T1D) are at high risk of developing vascular complications. Endothelial Dysfunction (ED) is the early reversible stage of vascular disease. Aim: Poor Diabetic control is associated with ED. Based on a hypothesis we aimed to determine the relationship between metabolic control and endothelial function in a cohort of adolescents with T1D. Methods: 42 adolescents with T1D were recruited. Weights, heights and BMI were recorded. Blood pressure was measured, followed by assessment of Reactive hyperaemia index (RHI) by Endo-PAT. Fasting blood samples were taken for evaluation of HbA1c, liver, renal function, lipid profile. Inflammatory markers (adiponectin, leptin, thrombomodulin, serum Intravascular Adhesion Molecules (sICAM), E-Selectin and p-Selectin) were measured in 20 patients. Urinary microalbumin to creatinine ratio measured. Participants completed a physical activity questionnaire. Baseline data included the date of diagnosis, duration ...
Frontiers in Pediatrics, 2021
Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or mov... more Cerebral Palsy (CP) describes a heterogenous group of non-progressive disorders of posture or movement, causing activity limitation, due to a lesion in the developing brain. CP is an umbrella term for a heterogenous condition and is, therefore, descriptive rather than a diagnosis. Each case requires detailed consideration of etiology. Our understanding of the underlying cause of CP has developed significantly, with areas such as inflammation, epigenetics and genetic susceptibility to subsequent insults providing new insights. Alongside this, there has been increasing recognition of the multi-organ dysfunction (MOD) associated with CP, in particular in children with higher levels of motor impairment. Therefore, CP should not be seen as an unchanging disorder caused by a solitary insult but rather, as a condition which evolves over time. Assessment of multi-organ function may help to prevent complications in later childhood or adulthood. It may also contribute to an improved understan...
Diabetologia, 2018
Aims/hypothesis Against a background of a near-universally increasing incidence of childhood type... more Aims/hypothesis Against a background of a near-universally increasing incidence of childhood type 1 diabetes, recent reports from some countries suggest a slowing in this increase. Occasional reports also describe cyclical variations in incidence, with periodicities of between 4 and 6 years. Methods Age/sex-standardised incidence rates for the 0-to 14-year-old age group are reported for 26 European centres (representing 22 countries) that have registered newly diagnosed individuals in geographically defined regions for up to 25 years during the period 1989-2013. Poisson regression was used to estimate rates of increase and test for cyclical patterns. Joinpoint regression software was used to fit segmented log-linear relationships to incidence trends. Results Significant increases in incidence were noted in all but two small centres, with a maximum rate of increase of 6.6% per annum in a Polish centre. Several centres in high-incidence countries showed reducing rates of increase in more recent years. Despite this, a pooled analysis across all centres revealed a 3.4% (95% CI 2.8%, 3.9%) per annum increase in incidence rate, although there was some suggestion of a reduced rate of increase in the 2004-2008 period. Rates of increase were similar in boys and girls in the 0-to 4-year-old age group (3.7% and 3.7% per annum, respectively) and in the 5-to 9-year-old age group (3.4% and 3.7% per annum, respectively), but were higher in boys than girls in the 10-to 14-year-old age group (3.3% and 2.6% per annum, respectively). Significant 4 year periodicity was detected in four centres, with three centres showing that the most recent peak in fitted rates occurred in 2012. Conclusions/interpretation Despite reductions in the rate of increase in some high-risk countries, the pooled estimate across centres continues to show a 3.4% increase per annum in incidence rate, suggesting a doubling in incidence rate within approximately 20 years in Europe. Although four centres showed support for a cyclical pattern of incidence with a 4 year periodicity, no plausible explanation for this can be given.
Irish medical journal, 2005