Genetics for Nurses in Pediatric Disciplines. A guide to recognition and referral of congenital and genetic disorders AUTHORS: Golder N. Wilson MD PhD, 1 Vijay Tonk PhD, 2 REVIEWERS Shirley Karr BSN RN, 3 Joanna K. Spahis BSN CNS, 4 Shirley Myers, 5 RNC, MSN, FNP, and Sherry Letalian RN 6
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A guide to recognition and referral of congenital and genetic disorders
Golder N. Wilson MD PhD,1 Vijay Tonk PhD,2
Shirley Karr BSN RN,3 Joanna K. Spahis BSN CNS,4 Shirley Myers,5 RNC, MSN, FNP, and Sherry Letalian RN6
1Clinical Professor of Pediatrics, Texas Tech University Health Science Center at Lubbock and Private Practitioner, KinderGenome Genetics, Dallas Texas; 2Professor of Pediatrics and Obstetrics-Gynecology; Director, Cytogenetics Laboratory, Texas Tech University Health Science Center at Lubbock;3Genetics Coordinator, Maternal-Fetal Medicine and Genetics, Texas Tech University Health Sciences Center at Amarillo;4Pediatric Clinical Nurse Specialist in Genetics and Coordinator of the Down Syndrome Clinic, Department of Genetics, Children’s Medical Center of Dallas5Women’s Health Nurse Practitioner, Maternal-Fetal Medicine and Genetics, Texas Tech University Health Sciences Center at Amarillo;6Pediatric Clinic Coordinator, Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock
This presentation was designed as part of the GEN-ARM (Genetics Education Network for Nursing Assessment, Recognition, and Management) for the Mountain States Region Genetics Collaborative (MSRGCC); contact www.mostgene.org or Ms. Joyce Hooker at email@example.com
Genetic diseases affect 5-10% of children
Nurses can recognize and refer genetic disorders without need for esoteric genetic knowledge
We will now present cases where your nursing skills and alertness (REYDAR=Recognize, EYDentify, Assess, Refer) can greatly benefit children with genetic diseases.
These cases will introduce you to simple principles of genetics that will give you confidence in recognizing these patients and foster a medical home
These cases and principles are geared to the nursing genetics primer and resources on the GENARM CD
Newborn with large head and deformed bones with fractures by x-ray
The family history indicated that the mother and other relatives had mild features of osteogenesis imperfecta or brittle bone disease (see Chapter 2)
Suspicion of genetic disease underlying this unusual infant led to referral and genetic counseling for this autosomal dominant disease—mother’s guilt about her accident was assuaged and she learned she had a 50% chance each of her future children would have OI
Categories of genetic disease relate to the steps from gene to family (genetic hierarchy)
Sickle cell anemia can be predicted (25% risk for next child) and tested (abnormal S protein or gene)
Other inherited anemias can be related to different abnormal globin alleles (C, D, E, thassemias).
A or S
Mendelian diseases reflect transmission of single genes (abnormal alleles) = DNA diagnosis
Multifactorial diseases reflect multiple abnormal genes plus environment = DNA/HLA markers
Many genes altering development cause isolated birth defects like cleft palate
Many genes altering enzyme pathways cause common metabolic diseases
(e.g., adult-onset diabetes, hyperlipidemia)
Many genes altering organ function(s) produce adult diseases (e.g., schizophrenia)
Chromosomal diseases imbalance multiple genes and cause multiple birth defects = Karyotype
Recognition → Category → Referral ↔ Medical home
(see Chapter 1)
Case 1N. Newborn with feeding problems(see Chapter 1 of primer)A term female infant exhibited slow growth in the last trimester of pregnancy but had normal ultrasound studies. After normal delivery and borderline low birth weight (5 lbs), the mother reported difficulty breast-feeding. Lactation education and reassurance were given and the infant was discharged with mild jaundice and a weight loss of 5% from her birth weight. Was this management appropriate?What additional history might have been helpful?
REYDAR of common pediatric presentations
Recognition to category to referral and management
Case 1N (cont): Important history was that this child was mother’s second--her child was the problem, not her breast-feeding. The child’s low muscle tone and subtle facial changes (down-slanting palpebral fissures, broad nasal bridge, down-turned corners of the mouth) led to evaluation after discharge with chromosome studies that showed deletion of the number 4 short arm (4P- or Wolf-Hirschhorn syndrome. Recognition of H&P signals was the key to REYDAR, not knowledge of a rare disease.
Cloned DNA segment
from target chromosome
13, X, Y
No culture or need for
Now a rapid FISH test is available that does not require stimulation of white blood cell division and gives results within 2-4 hours. Rapid FISH highlights chromosomes commonly involved in disorders—e.g., 13 (Patau syndrome), 18 (Edwards syndrome), or 21 (Down syndrome), showing three versus the normal two FISH signals in each cell nucleus (X and Y probes also show Turner syndrome or document sex in cases of ambiguous genitalia)
A 6-year-old girl is having trouble keeping up in the first grade because of distractibility and poor comprehension. She had some problems breast-feeding and later needed speech therapy. Her school nurse noted a somewhat unusual facial appearance with narrow eyes, long face, and prominent nose; she also had long fingers and a faint heart murmur. The child’s teacher felt she was a discipline problem due to attention deficit or conduct disorder and suggested possible medication therapy. Do you agree?
See Chapter 7 for more information
A pediatric nurse conducts a school physical on a 6-year-old boy who is very tall for his age. He has a height beyond the 97th centile despite average weight and head circumference, and his parents are not tall. The nurse notes other findings including an aged facial appearance, lax joints, heart murmur, and concave chest. The nurse suspects a genetic condition, and documents a family history
The family history shows numerous relatives with heart problems on the father’s side. The father (individual III-2) is not unusually tall (5’ 10”) and has no eye or heart problems. However, the father’s brother (individual III-1) developed aortic dilation and insufficiency at age 39, was 6’ 5” tall, and had a lean build with flat feet and inguinal hernias.
Disorders with extreme tall stature (gigantism), short stature (dwarfism), or failure to thrive are often genetic
Table 4.1. Multifactorial Disorders in the United States
*Ranks first for neonatal causes of death; approximate scale: ++++ (100% of predisposition due
to genetic factors as for Mendelian disorders) to + (20% of predisposition due to genetic factors)
Multifactorial disorders: For some (e.g., coronary artery disease), single genes of major effect (e.g., those regulating cholesterol) are good risk markers)
Recognizing at-risk children or adolescent females provides important opportunities for nursing education and prevention (see chapter 4)