This document discusses a proposed study on the effect of infant congenital heart disease (CHD) on motor and cognitive development. The study aims to determine if infants with CHD have motor deficits and if motor deficits are associated with cognitive deficits. The hypothesis is that infants with more severe CHD will have more severe motor delays and those with motor delays will show cognitive delays. The proposed study would assess 900 infants with no CHD, mild CHD, or severe CHD at 6, 12, and 15 months using the Bayley Scales of Infant Development to measure motor and cognitive development. The results are predicted to show delayed motor development in infants with mild and severe CHD and cognitive deficits associated with motor deficits.
Percepcao dos pais diag pre e pos natal de ccgisa_legal
Parents' experiences receiving an antenatal versus postnatal diagnosis of complex congenital heart disease were explored. Key findings include:
1) Parents who received an antenatal diagnosis had more time to prepare but still experienced significant emotional distress, similar to those receiving a postnatal diagnosis.
2) Factors like who delivers the diagnosis and how well it is explained can impact parents' understanding and emotional status, regardless of diagnosis timing.
3) Support needs vary between families and should be individually assessed to ensure parents receive sensitive and well-timed support.
This document discusses attention and working memory in pediatric epilepsy. It provides a brief history of ADHD and reviews the diagnostic criteria. Attention problems are common in epilepsy and may account for academic underachievement. While rates of ADHD in epilepsy vary, studies find prevalence is higher than the general population. Methylphenidate may be safely used to treat comorbid ADHD and epilepsy. Executive dysfunction, including problems with working memory, are seen in many children with epilepsy and can impact academic performance.
Perinatal and long-term outcomes in fetuses diagnosed with isolated unilateral ventriculomegaly: systemic review and meta-analysis
C. Scala, A. Familiari, A. Pinas, A.T. Papageorghiou, A. Bhide, B. Thilaganathan, A. Khalil
Volume 49, Issue 4, Date: April (pages 450–459)
Slides prepared by Dr Yael Raz (UOG Editor-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.15943/full
This document discusses the socioeconomic impact of pediatric sleep disorders. It finds that pediatric sleep disorders can increase direct health care costs, with one study in Australia finding an additional $27.5 million in annual health care costs. Pediatric sleep disorders are also linked to increased rates of attention deficit hyperactivity disorder, behavioral issues, and car accidents in teenage drivers due to sleep deprivation. Delaying school start times by even 30 minutes resulted in decreased car crashes, improved moods, and less daytime sleepiness in students. Overall, the document suggests that pediatric sleep disorders present significant socioeconomic costs but that early diagnosis and treatment can help offset these costs.
Increased nuchal translucency thickness and risk of neurodevelopmental disorders
S. G. Hellmuth, L. H. Pedersen, C. B. Miltoft, O. B. Petersen, S. Kjærgaard, C. Ekelund, A. Tabor
Volume 49, Issue 5; Date: May (pages 592–598)
Slides prepared by Dr Maddalena Morlando (UOG Editors-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.15961/full
1) The DIAN-TU trial aims to assess the safety and efficacy of two monoclonal antibody treatments, solanezumab and gantenerumab, in reducing amyloid plaques in individuals at risk for familial Alzheimer's disease.
2) Eligible participants must be between 15 years before and 10 years after their predicted symptom onset age. They can be asymptomatic or mildly affected.
3) The trial involves annual clinical assessments, cognitive testing, MRI, PET scans, blood tests, and lumbar punctures over two years. Participants will receive monthly intravenous infusions or subcutaneous injections of either the study drug or placebo.
Percepcao dos pais diag pre e pos natal de ccgisa_legal
Parents' experiences receiving an antenatal versus postnatal diagnosis of complex congenital heart disease were explored. Key findings include:
1) Parents who received an antenatal diagnosis had more time to prepare but still experienced significant emotional distress, similar to those receiving a postnatal diagnosis.
2) Factors like who delivers the diagnosis and how well it is explained can impact parents' understanding and emotional status, regardless of diagnosis timing.
3) Support needs vary between families and should be individually assessed to ensure parents receive sensitive and well-timed support.
This document discusses attention and working memory in pediatric epilepsy. It provides a brief history of ADHD and reviews the diagnostic criteria. Attention problems are common in epilepsy and may account for academic underachievement. While rates of ADHD in epilepsy vary, studies find prevalence is higher than the general population. Methylphenidate may be safely used to treat comorbid ADHD and epilepsy. Executive dysfunction, including problems with working memory, are seen in many children with epilepsy and can impact academic performance.
Perinatal and long-term outcomes in fetuses diagnosed with isolated unilateral ventriculomegaly: systemic review and meta-analysis
C. Scala, A. Familiari, A. Pinas, A.T. Papageorghiou, A. Bhide, B. Thilaganathan, A. Khalil
Volume 49, Issue 4, Date: April (pages 450–459)
Slides prepared by Dr Yael Raz (UOG Editor-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.15943/full
This document discusses the socioeconomic impact of pediatric sleep disorders. It finds that pediatric sleep disorders can increase direct health care costs, with one study in Australia finding an additional $27.5 million in annual health care costs. Pediatric sleep disorders are also linked to increased rates of attention deficit hyperactivity disorder, behavioral issues, and car accidents in teenage drivers due to sleep deprivation. Delaying school start times by even 30 minutes resulted in decreased car crashes, improved moods, and less daytime sleepiness in students. Overall, the document suggests that pediatric sleep disorders present significant socioeconomic costs but that early diagnosis and treatment can help offset these costs.
Increased nuchal translucency thickness and risk of neurodevelopmental disorders
S. G. Hellmuth, L. H. Pedersen, C. B. Miltoft, O. B. Petersen, S. Kjærgaard, C. Ekelund, A. Tabor
Volume 49, Issue 5; Date: May (pages 592–598)
Slides prepared by Dr Maddalena Morlando (UOG Editors-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.15961/full
1) The DIAN-TU trial aims to assess the safety and efficacy of two monoclonal antibody treatments, solanezumab and gantenerumab, in reducing amyloid plaques in individuals at risk for familial Alzheimer's disease.
2) Eligible participants must be between 15 years before and 10 years after their predicted symptom onset age. They can be asymptomatic or mildly affected.
3) The trial involves annual clinical assessments, cognitive testing, MRI, PET scans, blood tests, and lumbar punctures over two years. Participants will receive monthly intravenous infusions or subcutaneous injections of either the study drug or placebo.
Cervical length screening for prevention of preterm birth in singleton pregnancy with threatened preterm labor: systematic review and meta-analysis of randomized controlled trials using individual patient-level data
V. Berghella, M. Palacio, A. Ness, Z. Alfirevic, K. H. Nicolaides and G. Saccone
Volume 49, Issue 3, Date: March (pages 322–329)
Slides prepared by Dr Shireen Meher (UOG Editors-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17388/full
The American Academy of Sleep Medicine developed consensus recommendations for the amount of sleep needed for optimal health in children and adolescents. An expert panel reviewed over 800 scientific articles and recommended: infants 4-12 months sleep 12-16 hours, children 1-2 years sleep 11-14 hours, children 3-5 years sleep 10-13 hours, children 6-12 years sleep 9-12 hours, and teenagers 13-18 years sleep 8-10 hours. Sleeping within these recommended ranges is associated with benefits like improved learning and health, while sleeping less is linked to problems like behavioral issues and chronic diseases.
Pre-Implantation Genetic Diagnosis - Nick MeadeFADsupport
Genetic Alliance UK is a national charity that represents over 160 patient organizations supporting those affected by genetic conditions. The document discusses pre-implantation genetic diagnosis (PGD), which enables couples at risk of passing on inherited conditions to have children without the condition. PGD works by fertilizing eggs in vitro, testing the embryos, and implanting unaffected embryos. Access to PGD requires clinical eligibility, funding approval, and the condition being deemed serious by regulators. The document outlines the PGD process and discusses areas of policy related to its use and regulation.
Elikemi Cisco is conducting an internship at Robert Wood Johnson Hospital to improve care for transgender adolescents by informing them of fertility options before hormonal therapy. Many transgender individuals pursue medical interventions like hormones or surgery to alleviate gender dysphoria, but these treatments can impact fertility. While some countries require sterilization for legal gender changes, the US does not always discuss fertility preservation. Hormone therapy can cause issues like teratospermia and oligozoospermia. The internship involves researching transgender healthcare, fertility preservation, and hormones to develop supplemental materials on fertility options for patients. Over 2,600 articles were found and 45 fully reviewed, with 25 selected for a research paper providing background on transgender topics and medical interventions as
This document provides summaries of several health-related articles and studies from May 2015 issues of various publications. It also includes contact information for a chiropractor and recommends seeking medical advice from a health professional.
UOG Journal Club: December 2013
Relationship of isolated single umbilical artery to fetal growth, aneuploidy and perinatal mortality: systematic review with meta-analysis
B.J. Voskamp, H. Fleurke-Rozema, K.O. Rengerink, R.J.M. Snijders, C.M. Bilardo, B.W.J. Mol and E. Pajkrt
Link to free access article:
http://onlinelibrary.wiley.com/doi/10.1002/uog.12541/abstract
Multicenter screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks' gestation: comparison with NICE guidelines and ACOG recommendations
N. O'Gorman, D. Wright, L. C. Poon, D. L. Rolnik, A. Syngelaki, M. de Alvarado, I. F. Carbone, V. Dutemeyer, M. Fiolna, A. Frick, N. Karagiotis, S. Mastrodima, C. de Paco Matallana, G. Papaioannou, A. Pazos, W. Plasencia, K. H. Nicolaides
Volume 49, Issue 6, Pages 756–760
Slides prepared by Dr Fiona Brownfoot (UOG Editor-for-Trainees)
Read the free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17455/full
Sex dimorphic effects of prenatal treatment withHiya Boro
1) The study assessed the long-term cognitive functions and scholastic performance of 34 children aged 7-17 years who were treated with dexamethasone in the first trimester of pregnancy for risk of congenital adrenal hyperplasia, compared to 66 healthy controls.
2) Neuropsychological tests assessed intelligence, executive functions, processing speed, memory, and scholastic competence. No significant differences were found between the dexamethasone-treated and control groups on any measures.
3) This study suggests that short-term prenatal dexamethasone treatment in the first trimester does not adversely impact long-term cognitive functions or scholastic performance during childhood and adolescence.
Fetal screening and selection medical dogma or parental preferenceKatharine Perry
This document discusses fetal screening and selection, and whether women's decisions to terminate pregnancies based on fetal abnormalities are truly autonomous. It notes that medical practitioners have significantly more positive views of terminating pregnancies for disabilities compared to patients. This difference in views threatens patients' autonomy during genetic counseling. The document examines discrepancies between medical and patient attitudes, how prenatal testing has advanced, and abortion rates after diagnoses. It argues that the medical community's tendency to over-medicalize and view disabilities as defining traits influences their support for fetal screening and selection in a way that can undermine patient consent.
Ann pediatrcard eco fetal no diag precocegisa_legal
This study examined the impact of prenatal diagnosis via fetal echocardiography on neonatal outcomes for critical congenital heart defects. The study compared outcomes for 29 neonates diagnosed prenatally via fetal echocardiography to 71 diagnosed postnatally. Prenatal diagnosis resulted in planned deliveries at tertiary care centers for 10/29 babies and allowed for prompt postnatal stabilization. Prenatal diagnosis was associated with shorter time to presentation, better preoperative stabilization including use of prostaglandin, and improved pH and mortality rates compared to postnatal diagnosis. Fetal echocardiography facilitated improved counseling and management planning, leading to reduced morbidity and mortality.
Psychosocial & Ethical Dilemma Surrounding Fertility Preservation in Young Ca...Kaberi Banerjee
Dr. Kaberi Banerjee is a renowned fertility specialist in India. She has over 8000 IVF and fertility cases and has received several national and international awards for her work. The document discusses the psychosocial and ethical issues surrounding fertility preservation in young cancer patients. It emphasizes the importance of counseling patients on their fertility options upon cancer diagnosis and coordinating care between oncologists and fertility specialists. Key considerations include obtaining proper consent for fertility preservation procedures in minor patients and addressing the ethical issues around experimental procedures, posthumous use of stored reproductive tissues, and risks to potential offspring.
A 6-year-old girl presented with right middle cerebral artery infarct due to moyamoya disease. She underwent bilateral encephaloduroarteriosynangiosis surgeries. Post-operatively, she developed seizures and new onset right hemiplegia. Her condition rapidly deteriorated with symptoms of fever, tachycardia, hypertension, tachypnea, hyperhidrosis, and posturing. This constellation of autonomic symptoms was diagnosed as paroxysmal sympathetic hyperactivity (PSH). PSH has been reported after traumatic brain injury and stroke in adults, but rarely in children after stroke. The multiple strokes from moyamoya disease in this child likely caused diffuse brain damage leading to
This document discusses different approaches to treating craniopharyngiomas, which are brain tumors that evoke strong emotions. It summarizes various studies that have looked at conservative treatment versus surgery, as well as radical surgery versus hypothalamus-sparing surgery. The findings are mixed, with some studies finding similar outcomes between radical and conservative approaches, while others found higher complication rates with radical surgery. Overall, the document suggests balancing different treatment approaches rather than being dogmatic, as craniopharyngiomas are complex tumors with variability in how they present and respond to treatment.
Genetic counseling is a process that involves assessing individual or family risk for a genetic disorder, explaining options, and providing support. A genetic counselor reviews family history, medical records, determines disease risk, explains hereditary concepts, arranges for genetic testing, and provides guidance and referrals. They assist with informed decision making regarding pregnancy, screening, and management options. Areas of practice include cancer, pediatric care, prenatal testing, and screening for inherited metabolic disorders. New technologies allow for expanded multi-gene panel testing to efficiently screen for multiple conditions.
This document discusses genetic testing, including its definition, various types, reasons for testing, results, risks and limitations. It provides information on several genetic testing methods like newborn screening, diagnostic testing, carrier testing, prenatal testing, and preimplantation testing. The document outlines the role of nurses in ensuring informed consent, counseling, confidentiality, and addressing psychological impacts of genetic testing. In summary, the document provides a comprehensive overview of genetic testing, its various applications and the ethical considerations involved.
Prevalence and Services in Countries outside of Europe and North AmericaBronwyn Orsatti
This document discusses autism prevalence and services outside of Europe and North America. It begins by explaining why studying worldwide prevalence is important given the imbalance in knowledge from wealthier countries. It then discusses challenges in international prevalence studies, such as differences in cultures and diagnostic criteria. The document reviews prevalence findings from studies conducted in Africa, the Middle East, Latin America, Southeast Asia, and other regions. It shifts to discussing service provision for autism in developing countries and provides an example of a personal experience assessing services in Cambodia.
This study analyzed risk factors for delivering low birth weight neonates in pregnancies complicated by congenital valvular heart disease. The study collected data from 142 pregnancies with congenital heart disease over one year. Preterm birth was found to be a significant risk factor for low birth weight, with an adjusted odds ratio of 0.052. While multiparity showed a non-significant increased risk of low birth weight. The study concluded that preterm birth in women with congenital valvular heart disease is a risk factor for delivering low birth weight neonates.
Prospective study of infertility in humans due to life style changesAsma Afreen
This study assessed infertility treatment in humans in Kerala, India. It compared infertility prevalence in northern and southern Kerala and examined the impact of environmental factors. The study reviewed charts and interviewed patients aged 20-50 at three hospitals over three months. It found infertility was more common in males, increased with age and urban living, and was influenced by alcohol consumption and smoking. Long term treatment and patient education can improve infertility treatment outcomes.
Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis
G. Pagani, B. Thilaganathan and F. Prefumo
Volume 44, Issue 3, Date: September 2014, Pages 254-260
http://onlinelibrary.wiley.com/doi/10.1002/uog.13364/abstract
1) The study examined the quality of life of 11 pediatric heart transplant recipients between ages 6-12 through qualitative interviews.
2) The children described their quality of life as "mostly good" but reported life was "easy and not easy."
3) Three key themes emerged that affected the children's quality of life: 1) Doing what kids do like activities and school, 2) Being with friends and family, and 3) Managing life as a heart transplant recipient with its medical responsibilities and challenges.
Never Fall Behind: Early Action for Babies + Young Children with Delays: Febr...Vicky Sarmiento (She/Her)
In our first of a series of webinars curated for the provider community by fellow child healthcare professionals, Dr. Emily and Dr. Jin Lee talk about the importance of early action and intervention, how to recognize delays, and best practices in neuropsychological testing and evaluation.
This presentation can be supplemented with our video recording on BabyNoggin's Youtube. The video webinar recording will be available 3/2/18. Thank you!
Cervical length screening for prevention of preterm birth in singleton pregnancy with threatened preterm labor: systematic review and meta-analysis of randomized controlled trials using individual patient-level data
V. Berghella, M. Palacio, A. Ness, Z. Alfirevic, K. H. Nicolaides and G. Saccone
Volume 49, Issue 3, Date: March (pages 322–329)
Slides prepared by Dr Shireen Meher (UOG Editors-for-Trainees)
Link to free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17388/full
The American Academy of Sleep Medicine developed consensus recommendations for the amount of sleep needed for optimal health in children and adolescents. An expert panel reviewed over 800 scientific articles and recommended: infants 4-12 months sleep 12-16 hours, children 1-2 years sleep 11-14 hours, children 3-5 years sleep 10-13 hours, children 6-12 years sleep 9-12 hours, and teenagers 13-18 years sleep 8-10 hours. Sleeping within these recommended ranges is associated with benefits like improved learning and health, while sleeping less is linked to problems like behavioral issues and chronic diseases.
Pre-Implantation Genetic Diagnosis - Nick MeadeFADsupport
Genetic Alliance UK is a national charity that represents over 160 patient organizations supporting those affected by genetic conditions. The document discusses pre-implantation genetic diagnosis (PGD), which enables couples at risk of passing on inherited conditions to have children without the condition. PGD works by fertilizing eggs in vitro, testing the embryos, and implanting unaffected embryos. Access to PGD requires clinical eligibility, funding approval, and the condition being deemed serious by regulators. The document outlines the PGD process and discusses areas of policy related to its use and regulation.
Elikemi Cisco is conducting an internship at Robert Wood Johnson Hospital to improve care for transgender adolescents by informing them of fertility options before hormonal therapy. Many transgender individuals pursue medical interventions like hormones or surgery to alleviate gender dysphoria, but these treatments can impact fertility. While some countries require sterilization for legal gender changes, the US does not always discuss fertility preservation. Hormone therapy can cause issues like teratospermia and oligozoospermia. The internship involves researching transgender healthcare, fertility preservation, and hormones to develop supplemental materials on fertility options for patients. Over 2,600 articles were found and 45 fully reviewed, with 25 selected for a research paper providing background on transgender topics and medical interventions as
This document provides summaries of several health-related articles and studies from May 2015 issues of various publications. It also includes contact information for a chiropractor and recommends seeking medical advice from a health professional.
UOG Journal Club: December 2013
Relationship of isolated single umbilical artery to fetal growth, aneuploidy and perinatal mortality: systematic review with meta-analysis
B.J. Voskamp, H. Fleurke-Rozema, K.O. Rengerink, R.J.M. Snijders, C.M. Bilardo, B.W.J. Mol and E. Pajkrt
Link to free access article:
http://onlinelibrary.wiley.com/doi/10.1002/uog.12541/abstract
Multicenter screening for pre-eclampsia by maternal factors and biomarkers at 11–13 weeks' gestation: comparison with NICE guidelines and ACOG recommendations
N. O'Gorman, D. Wright, L. C. Poon, D. L. Rolnik, A. Syngelaki, M. de Alvarado, I. F. Carbone, V. Dutemeyer, M. Fiolna, A. Frick, N. Karagiotis, S. Mastrodima, C. de Paco Matallana, G. Papaioannou, A. Pazos, W. Plasencia, K. H. Nicolaides
Volume 49, Issue 6, Pages 756–760
Slides prepared by Dr Fiona Brownfoot (UOG Editor-for-Trainees)
Read the free-access article: http://onlinelibrary.wiley.com/doi/10.1002/uog.17455/full
Sex dimorphic effects of prenatal treatment withHiya Boro
1) The study assessed the long-term cognitive functions and scholastic performance of 34 children aged 7-17 years who were treated with dexamethasone in the first trimester of pregnancy for risk of congenital adrenal hyperplasia, compared to 66 healthy controls.
2) Neuropsychological tests assessed intelligence, executive functions, processing speed, memory, and scholastic competence. No significant differences were found between the dexamethasone-treated and control groups on any measures.
3) This study suggests that short-term prenatal dexamethasone treatment in the first trimester does not adversely impact long-term cognitive functions or scholastic performance during childhood and adolescence.
Fetal screening and selection medical dogma or parental preferenceKatharine Perry
This document discusses fetal screening and selection, and whether women's decisions to terminate pregnancies based on fetal abnormalities are truly autonomous. It notes that medical practitioners have significantly more positive views of terminating pregnancies for disabilities compared to patients. This difference in views threatens patients' autonomy during genetic counseling. The document examines discrepancies between medical and patient attitudes, how prenatal testing has advanced, and abortion rates after diagnoses. It argues that the medical community's tendency to over-medicalize and view disabilities as defining traits influences their support for fetal screening and selection in a way that can undermine patient consent.
Ann pediatrcard eco fetal no diag precocegisa_legal
This study examined the impact of prenatal diagnosis via fetal echocardiography on neonatal outcomes for critical congenital heart defects. The study compared outcomes for 29 neonates diagnosed prenatally via fetal echocardiography to 71 diagnosed postnatally. Prenatal diagnosis resulted in planned deliveries at tertiary care centers for 10/29 babies and allowed for prompt postnatal stabilization. Prenatal diagnosis was associated with shorter time to presentation, better preoperative stabilization including use of prostaglandin, and improved pH and mortality rates compared to postnatal diagnosis. Fetal echocardiography facilitated improved counseling and management planning, leading to reduced morbidity and mortality.
Psychosocial & Ethical Dilemma Surrounding Fertility Preservation in Young Ca...Kaberi Banerjee
Dr. Kaberi Banerjee is a renowned fertility specialist in India. She has over 8000 IVF and fertility cases and has received several national and international awards for her work. The document discusses the psychosocial and ethical issues surrounding fertility preservation in young cancer patients. It emphasizes the importance of counseling patients on their fertility options upon cancer diagnosis and coordinating care between oncologists and fertility specialists. Key considerations include obtaining proper consent for fertility preservation procedures in minor patients and addressing the ethical issues around experimental procedures, posthumous use of stored reproductive tissues, and risks to potential offspring.
A 6-year-old girl presented with right middle cerebral artery infarct due to moyamoya disease. She underwent bilateral encephaloduroarteriosynangiosis surgeries. Post-operatively, she developed seizures and new onset right hemiplegia. Her condition rapidly deteriorated with symptoms of fever, tachycardia, hypertension, tachypnea, hyperhidrosis, and posturing. This constellation of autonomic symptoms was diagnosed as paroxysmal sympathetic hyperactivity (PSH). PSH has been reported after traumatic brain injury and stroke in adults, but rarely in children after stroke. The multiple strokes from moyamoya disease in this child likely caused diffuse brain damage leading to
This document discusses different approaches to treating craniopharyngiomas, which are brain tumors that evoke strong emotions. It summarizes various studies that have looked at conservative treatment versus surgery, as well as radical surgery versus hypothalamus-sparing surgery. The findings are mixed, with some studies finding similar outcomes between radical and conservative approaches, while others found higher complication rates with radical surgery. Overall, the document suggests balancing different treatment approaches rather than being dogmatic, as craniopharyngiomas are complex tumors with variability in how they present and respond to treatment.
Genetic counseling is a process that involves assessing individual or family risk for a genetic disorder, explaining options, and providing support. A genetic counselor reviews family history, medical records, determines disease risk, explains hereditary concepts, arranges for genetic testing, and provides guidance and referrals. They assist with informed decision making regarding pregnancy, screening, and management options. Areas of practice include cancer, pediatric care, prenatal testing, and screening for inherited metabolic disorders. New technologies allow for expanded multi-gene panel testing to efficiently screen for multiple conditions.
This document discusses genetic testing, including its definition, various types, reasons for testing, results, risks and limitations. It provides information on several genetic testing methods like newborn screening, diagnostic testing, carrier testing, prenatal testing, and preimplantation testing. The document outlines the role of nurses in ensuring informed consent, counseling, confidentiality, and addressing psychological impacts of genetic testing. In summary, the document provides a comprehensive overview of genetic testing, its various applications and the ethical considerations involved.
Prevalence and Services in Countries outside of Europe and North AmericaBronwyn Orsatti
This document discusses autism prevalence and services outside of Europe and North America. It begins by explaining why studying worldwide prevalence is important given the imbalance in knowledge from wealthier countries. It then discusses challenges in international prevalence studies, such as differences in cultures and diagnostic criteria. The document reviews prevalence findings from studies conducted in Africa, the Middle East, Latin America, Southeast Asia, and other regions. It shifts to discussing service provision for autism in developing countries and provides an example of a personal experience assessing services in Cambodia.
This study analyzed risk factors for delivering low birth weight neonates in pregnancies complicated by congenital valvular heart disease. The study collected data from 142 pregnancies with congenital heart disease over one year. Preterm birth was found to be a significant risk factor for low birth weight, with an adjusted odds ratio of 0.052. While multiparity showed a non-significant increased risk of low birth weight. The study concluded that preterm birth in women with congenital valvular heart disease is a risk factor for delivering low birth weight neonates.
Prospective study of infertility in humans due to life style changesAsma Afreen
This study assessed infertility treatment in humans in Kerala, India. It compared infertility prevalence in northern and southern Kerala and examined the impact of environmental factors. The study reviewed charts and interviewed patients aged 20-50 at three hospitals over three months. It found infertility was more common in males, increased with age and urban living, and was influenced by alcohol consumption and smoking. Long term treatment and patient education can improve infertility treatment outcomes.
Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis
G. Pagani, B. Thilaganathan and F. Prefumo
Volume 44, Issue 3, Date: September 2014, Pages 254-260
http://onlinelibrary.wiley.com/doi/10.1002/uog.13364/abstract
1) The study examined the quality of life of 11 pediatric heart transplant recipients between ages 6-12 through qualitative interviews.
2) The children described their quality of life as "mostly good" but reported life was "easy and not easy."
3) Three key themes emerged that affected the children's quality of life: 1) Doing what kids do like activities and school, 2) Being with friends and family, and 3) Managing life as a heart transplant recipient with its medical responsibilities and challenges.
Never Fall Behind: Early Action for Babies + Young Children with Delays: Febr...Vicky Sarmiento (She/Her)
In our first of a series of webinars curated for the provider community by fellow child healthcare professionals, Dr. Emily and Dr. Jin Lee talk about the importance of early action and intervention, how to recognize delays, and best practices in neuropsychological testing and evaluation.
This presentation can be supplemented with our video recording on BabyNoggin's Youtube. The video webinar recording will be available 3/2/18. Thank you!
Shorter corpus callosum length and smaller cross-sectional area correlated with more severe developmental delay and higher serum 7-dehydrocholesterol levels in individuals with Smith-Lemli-Opitz syndrome. A study of 36 individuals with SLOS found that callosal length and area negatively correlated with developmental quotients in gross motor and language domains. Callosal measurements also negatively correlated with serum 7-dehydrocholesterol levels and positively correlated with total cholesterol levels. The findings suggest callosal development is associated with biochemical abnormalities in SLOS and imaging biomarkers may help evaluate disease severity and outcomes.
1) The document discusses the importance of health literacy and patient-centered care in audiology. Many patients have low health literacy due to hearing loss and other factors.
2) A study found that counseling dialogs between audiologists and patients had a reading level below a 4th grade level, significantly lower than the language used by audiologists. Patient materials like hearing aid instructions were also too advanced.
3) Low health literacy is common and associated with poorer health outcomes. Audiologists must find ways to improve communication through simpler language and formats responsive to patient needs and abilities.
The document compares functional outcomes between pediatric and adult patients with traumatic brain injury (TBI) who underwent inpatient rehabilitation. It finds:
1) Increasing age was associated with improved outcomes in children but poorer outcomes in adults, as measured by Functional Independence Measure (FIM) scores.
2) Several factors like gender, Glasgow Coma Scale scores, and presence of midline shift differed between pediatric and adult groups and impacted functional outcomes.
3) The relationship between age and functional outcome after TBI differs between pediatric and adult populations, with moderating variables also having different effects between the two age groups.
Summary of activities related to FASD at the Ron Joyce Children's Health Centre, Hamilton, ON, Canada presented at: FASD - Achieving New Heights Together in Burlington, ON, Canada on March 22, 2019.
This study presents growth charts for Wolf-Hirschhorn syndrome (WHS) from birth to 4 years of age based on data from 101 children with WHS. The growth charts show severe growth retardation in WHS, with heights, weights, and head circumferences consistently below -3 to -4.5 standard deviations from normal growth charts. No catch-up growth was observed. The study recommends using these WHS-specific growth charts rather than standard charts to monitor growth and health in children with this rare genetic syndrome.
Screening Tool for Developmental Disorders in ChildrenApollo Hospitals
Developmental problems are a diverse group of conditions that affect and limit children and their life-chances. A ready reference for a Paediatrician would be the first six chapters of the latest edition (18th) of the Nelson Textbook of Pediatrics (The Field of Pediatrics, Growth & Development, Psychological Disorders, Social Issues, Children with Special Health Needs and Nutrition and Human Genetics and Metabolic Diseases).
NSF's sleep time duration reccomendationsTaylor Nelson
The National Sleep Foundation convened an expert panel to update recommendations for sufficient sleep durations across the lifespan. The panel reviewed over 300 scientific studies and used a modified Delphi method to determine appropriate sleep times based on age. The panel's recommendations are: newborns 14-17 hours, infants 12-15 hours, toddlers 11-14 hours, preschoolers 10-13 hours, school-aged 9-11 hours, teenagers 8-10 hours, young adults 7-9 hours, adults 7-9 hours, and older adults 7-8 hours. The panel emphasized that individual needs may vary, and times outside these ranges are not necessarily inappropriate.
The National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Centers for Disease Control and Prevention (CDC) was established in 2001 to promote health and enhance lives of those with disabilities. It conducts research and surveillance on conditions like autism and intellectual disabilities through programs such as the Autism and Developmental Disabilities Monitoring Network. The NCBDDD aims to understand risk factors and improve early identification and intervention to help individuals live fulfilling lives.
Presentation from December 18, 2013 Chicago Board of Health Meeting by Carl C. Bell, M.D on Neurodevelopmental Disorders Associated with Prenatal Exposure to Alcohol.
Perioperative Management of the Pediatric Organ Donorasclepiuspdfs
Introduction: For bereaved families, organ donation does not take away from the pain and loss of death, but it does give some meaning at the time and a great deal of comfort later. Each and every family whose child has suffered brain stem death should be offered the chance to donate. When a diagnosis of brain death has been made in a child, it may be possible for organ donation to occur, but it requires optimization of the donor and meticulous planning. There are a number of medical, nursing, ethical, psychological, and administrative issues which must be addressed in the perioperative period to facilitate the procurement of organs in good condition. Aim: This review aims to provide up to date information and provides the clinical pathway used in our tertiary level, university-affiliated children’s hospital for the management of the child in the critical care unit before organ donation, and intraoperative anaesthetic management. Method: This review was prepared using literature and clinical guidelines which were obtained from Medline and EMBASE databases, using the following search terms: Organ donation; intensive care management of organ donor; paediatric; neonatal; transplant outcome; and graft outcome. The focused literature search was carried out in 2017 by the five authors involved in the project. Results: The Society of Critical Care Medicine published consensus based guidelines for donor management in adult patients in 2015. Many of the core critical care principles in this document are similar in infants and children; although there are different considerations with respect to the diagnosis of brain death, consent, and pharmacological management. Full-text papers were employed by the project group to update our clinical pathway for the perioperative management of the infant or child who is a potential organ donor. Providing critical care medical and nursing staff with a pathway may improve communication, confidence, and delivery of care to the deceased child, their family and the graft recipients in this challenging situation.
This study aimed to identify phenotypic predictors of quality of life (QOL) in youth with fragile X syndrome (FXS) by analyzing data from 27 individuals with FXS. The study found that social and school QOL were areas of reduced QOL compared to physical and emotional domains. High levels of irritability negatively correlated with family QOL. Significant social impairment also negatively correlated with individual QOL. Scores on measures of behaviors and abilities may help identify targets for clinical treatment to improve QOL. Larger and longitudinal studies are needed to generalize findings and track developmental trajectories of QOL over time.
An Epidemiologic Study of Gilles de la Tourette's Syndrome in IsraelAlfred Cohen
This study aimed to estimate the lifetime prevalence of Gilles de la Tourette's syndrome (GTS) in adolescents aged 16-17 in Israel. Over 28,000 adolescents were screened using a 4-item questionnaire followed by examination by a psychiatrist. 12 individuals met diagnostic criteria for GTS, yielding a point prevalence of 4.3 per 10,000. Rates of obsessive-compulsive disorder (OCD) were higher in those with GTS (41.7%) compared to the general population (3.4%), but rates of attention deficit hyperactivity disorder were similar. This study provides prevalence estimates for GTS in line with previous studies and highlights the high comorbidity between GTS and OCD.
Conferencia de la Dra. Joanne Wolfe sobre Cuidados Paliativos Pediátricos, en...PrincipitoJuanPi
This document summarizes a presentation on pediatric palliative care given by Dr. Joanne Wolfe. It discusses the scope of pediatric palliative care needs, including common diagnoses, symptoms, and technologies used to treat children with life-threatening illnesses. It also describes the suffering experienced by patients and their families from physical, psychological, social, and existential distress. Additionally, it outlines the Boston Pediatric Palliative Care experience, including the interdisciplinary team approach, strategies used, and outcomes demonstrating improved symptom management, family satisfaction, and reduced healthcare utilization. Finally, it discusses adapting the pediatric palliative care model to low and middle income countries by assessing available resources and integration with local care providers.
This document discusses guidelines for follow up care of high risk newborns after discharge from the NICU. It outlines the importance of follow up to monitor for growth, development, and health deviations. Criteria for discharge planning are described, including being hemodynamically stable, maintaining temperature, full enteral feeds, parental confidence, and vaccinations. Improving compliance is discussed through informing parents, multi-disciplinary teams, integrating with routine visits, communication, and continuity of care. Risk factors for neurodevelopmental disabilities are outlined. Screenings and assessments recommended before discharge and during follow up include medical exams, neuroimaging, ROP screening, hearing screening, and metabolic screening. Levels of follow up care are assigned based
This document discusses attention deficit hyperactivity disorder (ADHD) from a chiropractic perspective. It notes increasing rates of ADHD and other disorders in children and outlines chiropractic theories regarding how spinal issues may contribute to neurological dysfunction. Specifically, it proposes that birth trauma and other injuries can cause spinal subluxations leading to abnormal nervous system function impacting behaviors. Research showing chiropractic care may help address ADHD symptoms through reducing subluxations and improving brain function is referenced.
This document summarizes a study on psychiatric symptoms among children with congenital heart disease. The study aimed to examine depressive and anxiety symptoms as well as neurocognitive deficits in children with congenital heart disease compared to controls. It found that children with congenital heart disease performed significantly worse on tests of cognitive functioning and had higher levels of depressive and anxiety symptoms than controls. Common psychiatric diagnoses among the children with heart disease included adjustment disorder and depression. The results suggest children with congenital heart disease are at increased risk for psychological and cognitive issues.
This document discusses developmental assessment and causes of developmental delay in children. Developmental assessment aims to detect delays by quantifying a child's development compared to their age. It helps identify delays so children can receive early treatment. Developmental delays can be caused by genetic and medical factors like brain malformations, infections, or environmental factors such as malnutrition or lack of stimulation. A thorough history, examination, and testing can help determine the underlying cause so the child's needs can be addressed through a multidisciplinary approach involving therapies, education support, and genetic counseling of parents.
1. What is the Effect of Infant
Congenital Heart Disease
on Motor Development?
Merna Haridi
Barnard College
Infant Development
Professor Fifer
2. Specific Aims
• To determine whether infant congenital heart disease
(CHD) has an affect on motor development.
• To determine if motor deficits, because of CHD, affect
potential cognitive deficits.
3. Hypothesis
• Infants with more severe cases of CHD will
have more severe motor deficits in motor
development.
• Infants with motor deficits will show
cognitive deficits
4. Background and Significance
Statistics
CHD affects nearly 1% of births per year in the United States
(40,000 infants)
Overall, 85-90% of infants born with CHD are expected to survive to age
18; Nearly half 48% of the deaths due to CHD occurred during infancy
Database: 20,636 people with CHD underwent the cardiovascular
surgery in 2012, where 55% of them were newborns or infants and the
remaining were children between the ages of 1 and 18 years (Hoffman).
5. Background and Significance
Research in relation to Motor Development
• Children with severe cases of CHD displayed motor deficits.
• One research focused on risk factors associated with motor
delays and musculoskeletal impairments in infants with CHD
2 Clinical Cases
• Early intervention teams followed hospital course and parents’
concerns.
• One case: Karim (2 month old infant); motor assessment showed
that he performed below the normal percentile and had an overall
low muscle tone (Long, Eldridge, Galea, & Hariss, 2011).
6. Background and Significance
Research in relation to Cognition
• Study looked into Neurodevelopmental Outcomes in children
with specific types of CHD.
• 133 infants who had a Fontan Surgery were evaluated
(between years 1973-1991). 128 of them underwent
cognitive testing and the mean full scale IQ of 96 was
lower than the population mean. Mental retardation was
found in 8% of the population (Wernovsky et al., 2000).
7. Research Design and Methods
3 Groups: No CHD, Mild CHD, Severe CHD
Sample Size: 900 infants (300 each group)
Target Population: random sample
Method: Echocardiography on fetus (18-41 weeks)
After birth: Tracking infants at 6, 12, & 15 months (Bayley Scales
of Infant Development); Growth measurements.
Analysis: How motor and cognition, using Bayley Scales, is affected
through age groups. Done by looking for correlations across the
measures using Multiple Regression.
Exclusions: children with syndromes/ chromosomal defects;
mothers who smoke/ drug abuse; mothers diagnosed with
anxiety/depression
8. Predicted Results
• Infants with mild & severe cases of CHD will have
delayed motor development at 6,12, and 15 months.
• Those with motor deficits will show cognitive
deficits. The more severe cases will show more
severe cognitive deficits
9. Future Directions
• Findings from this research could put us in a position to
prolong the lives of children with congenital heart disease,
due to improvements in therapeutic standards.
• Improving the quality of life of these infants for when they
encounter challenges in everyday life in adulthood.
10. References
1. Jacobs JP, Jacobs ML, Mavroudis C, Lacour-Gayet FG, Tchervenkov CI. Executive
Summary: The Society of Thoracic Suregeons Congenital Heart Surgery Database
- Fourteenth Harvest—(January 1, 2007-December 31, 2010). Durham, North
Carolina: The Society of Thoracic Surgeons (STS) and Duke Clinical Research
Institute (DCRI), Duke University Medical Center, Spring 2011. stats third bullet
point
2. Long, S., Eldridge, B., Galea, M., & Harris, S. (2011). Risk Factors for Gross
Motor Dysfunction in Infants With Congenital Heart Disease. Infants & Young
Children, 24, 246-258. Retrieved November 26, 2014.
3. Wernovsky, G., Stiles, K., Gauvreau, K., Gentles, T., Duplessis, A., Bellinger, D.,
... Newburger, J. (2000). Cognitive Development After the Fontan Operation.
Circulation, 883-889. Retrieved November 26, 2014,
http://www.hindawi.com/journals/ijpedi/2010/359390/
4. Hoffman, J. (n.d.). Incidence of congenital heart disease: I. Postnatal incidence.
Pediatric Cardiology, 103-113. Retrieved November 27, 2014, from
http://www.cdc.gov/ncbddd/heartdefects/data.html
Congenital Heart disease: includes abnormalities in cardiovascular structures that occur before birth; defects occur while fetus is developing in the uterus. They are the most common types of birth defects.
Milestones of motor development; does this lag in motor development have something to do with how poorly they may be at cognitive skills that motor development is tied to this decreased cognitive abilities. Is there something there really affecting how it is that they are learning about their world. Maybe they have 1 and not the other : do have some motor problems but their cognition was just fine OR some may have some have some chd babies with no problem in motor but yet cognition is off. This helps me disassociate the effect of one on the other. Control for their growth too.
- Another important aim of this research idea is to see if motor deficits are related to other problems, and in this case I will be looking into cognitive measurements at the same ages. Maybe these infants with CHD have a motor deficit, but their cognition is just fine OR possibly others with no problem, yet there may be something off about their cognition, based off of the measurements taken.
2nd bullet- survival of infants with CHDs depends on how severe the defect is when it is diagnosed, and how it is treated.
3rd bullet- database from 96 North American surgical congenital heart centers that represent 90% of all congenital heart surgeries
-there are several types of Congenital heart diseases, some more extreme than others. Research has been done with severe cases of congeneital heart defects and it was found that children with more extreme cases of CHD in fact have delayed motor function.
They embedded these concerns into 2 clinical cases of infants with CHD who required surgery.
With each case, they followed a description of their hospital stay and described roles of an early intervention team that followed up with the infant and the family. Along with the parents priorities and concerns. When motor assessments were conducted, results led to the development of individualized therapy plans. 1 case Karim: motor development assessment results showed that he performed below a specific percentile for his age and overall low muscle tone. This concludes that infants with CHD are at risk for developmental motor delays and muscle impairments, especially if it’s associated with a genetic disorder.
Studies have shown that although the vast majority of children with CHD have normal outcomes, as a group they generally show high rates of neurodevelopmental problems which include mild deficits in cognition attention and neuromotor functions.
http://www.cdc.gov/ncbddd/heartdefects/features/heartdefects-keyfindings2010.html
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860894/
Wernovsky evaluated 133 patients who had a Fontan operation ( which is surgery for those with complex CHD) between the years 1973–91 For 128 patients who underwent cognitive testing, the mean full scale IQ of 96 was lower than the population mean. Mental retardation was found in 8%. ((Children with a single functioning ventricle who underwent surgery found significantly lower performance IQ and lower scores on memory and learning domains.
function
Evaluate the cerebral blood flow in fetus with CHD- that can be documented by Doppler Ultrasound
Related to the cerebral oxygen content and oxygen delivery to the brain, both of which are dependent on cardiac function.
Studies have shown that although the vast majority of children with CHD have normal outcomes, as a group they generally show high rates of neurodevelopmental problems which include mild deficits in cognition attention and neuromotor functions.
Will be following mothers and their children from early pregnancy with repeated assessments
Sample size: 900 babies (300 each group)
Target Population: random sample
3 Groups: Mild CHD, Severe CHD, No CHD
Method: For most women, a basic ultrasound will show that all four chambers of the baby’s heart have developed. However, an OB/GYN may recommend an echocardiogram if previous ultrasounds or tests detected an abnormal heartbeat or other potential heart problems in the unborn baby. (abdominal echocardiography or transvaginal echocardiography on a fetus during gestation period 18-41 weeks).
Measurements:
Developmental history (comparison of infant’s developmental history to appropriate milestones) Looking at developmental milestones for fine motor skills between ages 0-4 months, 4-8 months, 8-12 months. Observing any “red flags” for fine motor development is the focus. Will use the Test of Infant Motor Performance (TIMP) to assess posture and movement for infants under 4 months of age
Neuromotor examination: evaluating active and passive muscle tone, reflexes, gross motor skills
Growth Measurement: Height weight, BMI, head circumference.
-Using Bayley Scales of Infant Development in order to see if they show any cognitive delay and for assessing motor areas (until how many years of age, 1 right? Since my motor measurements are going to be until 12 months.)
-Another cognitive test I DON’T THINK YOU NEED TO DO ANOTHER COG TEST UNLESS YOU WANT TO DO LIKE AN EEG/VPC/DI
Analysis:
-1 way anova- to see significant differences between the 3 groups (control, mild, severe) with motor development
2 way anova- to see an interaction between infants with congenital heart disease and motor deficits on cognition (done after separating infants with motor deficits from those without).
To test whether motor deficits have an impact on cognitive abilities ( will use the group with motor deficits from both mild and severe)
Exclusions: children with syndromes/ chromosomal defects; mothers who smoke/drug abuse; mothers diagnosed with anxiety/depression
-There is a clear connection in the circuitry of the brain between areas controlling fine motor skills and areas controlling cognition.
Infants with CHD will have delayed motor development and delays in cognitive abilities.
Infants with more severe cases of the disease will show a greater delay in motor development, and a greater impact on their cognition, when compared to those with mild cases.
Infants with the disease and delayed in motor development will show a lag in cognitive skills.
Psychological problems may arise during adulthood, which is why detecting any cognitive problems earlier allows for earlier therapy.