scholarly journals Ethical Issues Surrounding Newborn Screening

2021 ◽  
Vol 7 (1) ◽  
pp. 3
Author(s):  
R. Rodney Howell
Keyword(s):  
Newborn Screening ◽  
Developmental Delay ◽  
Ethical Issues ◽  
Rare Disorders ◽  
Young Physician ◽  
Children's Hospital ◽  
Children’S Hospital ◽  
Physician Scientist

It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children’s profound developmental delay—i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children’s Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early—so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin.

scholarly journals The First Treatment for PKU: The Pioneers—Birmingham 1951

2021 ◽  
Vol 7 (1) ◽  
pp. 19
Author(s):  
Anne Green
Keyword(s):  
Newborn Screening ◽  
Children's Hospital ◽  
The World ◽  
Children’S Hospital ◽  
History Of ◽  
Modified Diet

Prior to the introduction of newborn screening, Phenylketonuria (PKU) was a devastating disorder with affected individuals usually committed to a life in care in large institutions (asylums). Newborn screening only began after it was shown that those with PKU could be treated with a modified diet and could subsequently lead normal lives. The first production of a diet and the demonstration of its effectiveness was thus a key milestone in the history of both PKU and newborn screening, and took place in Birmingham, UK, in 1951. The pioneers were a two-year-old girl called Sheila Jones, her mother Mary, and three dedicated professionals at Birmingham Children’s Hospital: Evelyn Hickmans, John Gerrard and Horst Bickel. Together, they changed the course of PKU for those across the world. This review summarises the history and achievements of this team who opened the door to PKU treatment and the introduction of newborn screening.

scholarly journals Neurodevelopmental status in children with congenital hypothyroidism at the children’s hospital and the institute of the child health Multan.

2020 ◽  
Vol 27 (11) ◽  
pp. 2335-2338
Author(s):  
Erum Afzal ◽  
Waqas Imran Khan ◽  
Sajjad Hussain
Keyword(s):  
Child Health ◽  
Developmental Delay ◽  
Motor Skills ◽  
Congenital Hypothyroidism ◽  
Fine Motor ◽  
Gross Motor ◽  
Gross Motor Skills ◽  
Children's Hospital ◽  
Children’S Hospital ◽  
Socioeconomical Status

Objectives: To determine the neurodevelopmental status in children with congenital hypothyroidism. Study Design: Cross Sectional Study. Setting: Department of Pediatric Endocrine and Developmental Pediatrics Outpatient at The Children’s Hospital and The Institute of the Child Health (CHICH) Multan. Period: January to December 2019. Material & Methods: A total of 119 children, 1-5years of age having congenital hypothyroidism were included. Their socioeconomical status, age at which the diagnosis was made, duration of thyroxine intake was noted. Development in domains of personal-social, fine motor-adaptive, language and gross motor skills was assessed by using The Denver developmental screening test (DDST). Developmental quotient of each domain was measured and less than 70% was considered significant delayed. SPSS-20 was used for statistical analysis. Results: Out of 119 patients, 47.8% were male, 61.3% were among the age group of 1-3 years and the mean age was 1.40 ± 0.489 years. Forty-five percent (45.4%) belonged to low and 47.1% to middle socioeconomical status. Only 46.2% children started taking thyroxine within 2 months of life. Significant delay in personal-social domain was detected in 73.9% (n=88) children while 80.7% (n=96), 80.7% (n=96) and 86.6% (n=103) patients had significant developmental delay in fine motor-adaptive, language and gross motor skills respectively. Developmental delay was significantly low in children started on thyroxine therapy within 2-months of age (p-value ≤ 0.05 for all domains of development. Conclusion: Children with congenital hypothyroidism suffer from delayed development, so these patients must be referred for developmental therapy along with medical therapy.

Nursing Perspective

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 901-902
Author(s):  
Ann Earles
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Genetic Counselor ◽  
Cell Disease ◽  
Children's Hospital ◽  
Nurse Coordinator ◽  
The Family ◽  
Children’S Hospital

Newborn screening may be the single most important recent advance in the treatment of sickle cell disease. However, the efficacy of newborn screening depends on adequate patient education, counseling, and follow-up medical care. In large part, it is the nurse's responsibility to ensure that these follow-up services are provided. The Northern California Comprehensive Sickle Cell Center at Children's Hospital, Oakland, has a regional newborn hemoglobinopathy screening program that identifies approximately 15 newborns with sickle cell disease annually. Obstetrical nurses collect an umbilical cord blood sample from all babies born at the ten participating institutions. Samples are sent to the reference hemoglobinopathy laboratory at Children's Hospital, and diagnostic results are available within 1 week of birth. When a diagnosis of sickle cell disease is made, the genetic counselor discusses the case with the sickle cell nurse coordinator and physician. The responsible private physician and obstetrician are personally notified. In most cases, the family receives a telephone call from the genetic counselor approximately 1 week after the birth. An appointment is then made in the next week for laboratory confirmation of diagnosis and initiation of counseling. At the confirmation appointment, the family and patient are introduced to the sickle cell nurse coordinator, and a comprehensive sickle cell clinic appointment is made for the following week. At this appointment, a "new family letter" introducing the rest of the sickle cell staff is reviewed with the family by the nurse, and a copy is given to the family. This letter outlines the comprehensive services available to patients and contains information to familiarize them with our particular clinical services and policies.

scholarly journals Etiological Yield of Global Developmental Delay in Kanti Children’s Hospital

2018 ◽  
Vol 56 (213) ◽  
pp. 875-878
Author(s):  
Anshu Jha
Keyword(s):  
Developmental Delay ◽  
Perinatal Asphyxia ◽  
Global Developmental Delay ◽  
Diagnostic Study ◽  
Cross Sectional ◽  
Genetic Syndrome ◽  
Etiological Diagnosis ◽  
Children's Hospital ◽  
Children’S Hospital ◽  
Post Infectious

  Introduction: Global developmental delay is the common pediatric problem having spectrum of underlying causes. Etiological diagnosis is very vital for providing information regarding pathogenesis, prognosis, recurrence, risk and treatment options. The aim of this study was to determine etiological yield of global developmental delay. Methods: This descriptive cross-sectional study included children of 6 months to 5 year of age with global developmental delay referred to pediatric outpatient Neurology clinic of Kanti Children’s Hospital. Diagnostic study included detailed history, examination followed by required investigations neuroimaging, electroencephalogram, hearing and visual assessment. Thyroid function test, karyotyping and enzyme essay were done in selected patients depending on the condition. Results: In this study, 110 patients were evaluated out of which 70 were male and 40 were female. An etiological diagnosis was determined in 86 (78%) of the patients classified under following categories perinatal asphyxia 49 (44.5%), post infectious sequelae 11 (10%), cerebral dysgenesis 6 (5.45%), genetic syndrome 6 (5.45%), metabolic causes 5 (4.54%), neurocutaneous syndrome 4 (3.63%) and non-specific leucodystrophy changes . Etiology was unknown in 24 (21 %) of the patients. Conclusions: A specific etiology can be determined in majority of cases of global developmental delay after comprehensive evaluation. The most common etiologies were perinatal asphyxia and post infectious sequelae.

scholarly journals Law and regulation of retained organs: the ethical issues

Legal Studies ◽  
2002 ◽  
Vol 22 (4) ◽  
pp. 527-549 ◽  
Author(s):  
John Harris
Keyword(s):  
Informed Consent ◽  
Genetic Information ◽  
Ethical Issues ◽  
Genetic Privacy ◽  
Children's Hospital ◽  
Moral Importance ◽  
The World ◽  
Children’S Hospital ◽  
The Subject ◽  
Alder Hey

Organ retention has been with us for millennia. Walk into virtually any cathedral and many a church in Europe and you will find an array of retained organs or tissue, allegedly originally the property of assorted saints, or even of God, and almost certainly collected without proper informed consent and retained in less than secure conditions. In our own time the complexities of organ collection, retention and use have proliferated. The events at Alder Hey Children's Hospital and the debates about the ethics of biobanking all over the world have dramatically highlighted the complexity, the difficulty and the moral importance of these issues. Some of these issues have to do with the question of who can give permission for or consent to such removal and retention. Other issues involve consideration of whose rights or interests are engaged when cadaver organs and tissue are removed and retained, just what in particular is the nature, extent and force of those rights or interests, and how they are to be balanced against other moral considerations. These questions are the subject of this paper. We will not, however, here be concerned with the issues of genetic privacy, the security of genetic information.

Passy-Muir Speaking Valve Use in a Children's Hospital: An Interdisciplinary Approach

2008 ◽  
Vol 18 (2) ◽  
pp. 76-86 ◽  
Author(s):  
Lauren Hofmann ◽  
Joseph Bolton ◽  
Susan Ferry
Keyword(s):  
Tracheostomy Tube ◽  
Pediatric Population ◽  
Interdisciplinary Approach ◽  
Extended Period ◽  
Speech Development ◽  
Tube Placement ◽  
Background Information ◽  
Speaking Valve ◽  
Children's Hospital ◽  
Children’S Hospital

Abstract At The Children's Hospital of Philadelphia (CHOP) we treat many children requiring tracheostomy tube placement. With potential for a tracheostomy tube to be in place for an extended period of time, these children may be at risk for long-term disruption to normal speech development. As such, speaking valves that restore more normal phonation are often key tools in the effort to restore speech and promote more typical language development in this population. However, successful use of speaking valves is frequently more challenging with infant and pediatric patients than with adult patients. The purpose of this article is to review background information related to speaking valves, the indications for one-way valve use, criteria for candidacy, and the benefits of using speaking valves in the pediatric population. This review will emphasize the importance of interdisciplinary collaboration from the perspectives of speech-language pathology and respiratory therapy. Along with the background information, we will present current practices and a case study to illustrate a safe and systematic approach to speaking valve implementation based upon our experiences.

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