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Genetics Disorders: A Comprehensive Overview for Maternal & Child Health Nursing, Summaries of Nursing

Arellano University (AU)Nursing

pedia notes and summaries and sheets

Typology: Summaries

2020/2021

Uploaded on 02/08/2023

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Maternal & Child Health Nursing
NCM - 109
Judith Manuel
NCM 109
1
Genetics Disorders
FACTS
1 in 20 newborns has an inherited genetic disorder
Over 30% of pediatric admissions are for genetic-influenced
disorders
Inherited or genetic disorders
disorders that can be passed from one generation to the
next
Genetics
Study of why disorders occur
Nature of Inheritance
In humans, each cell, with the exception of the sperm & ovum,
contains 46 chromosomes (44 autosomes and 2 sex
chromosomes) in the nucleus
Each chromosome contains thousands of genes
Sex chromosomes
46 XX: female
46 XY: male
Normal Female Karyotype
Genes
Basic units of heredity; structures responsible for hereditary
characteristics
May or may not expressed or passed to the next generation
According to Mendel’s Law, one gene for each h ereditary
property is received from each parent; one is dominant
(expressed); one is recessive
Karyotype
Chromosomal pattern of a cell including genotype, number of
chromosomes & normality or abnormality of the
chromosomes
Genotype
Actual gene composition
Sequence & combination of genes on a chromosome
Phenotype
Outward appearance or observable expression of genes(hair
color, eye color, body build, allergies)
Alleles
Pairs of genes located on the same site on paired chromosomes
Homozygous alleles (DD or dd)
Heterozygous alleles are two different alleles for the same trait
(Dd)
Congenital and Genetic are not synonymous
Congenital – present at birth because of abnormal
development in utero ( teratology)
Genetic – pertains to genes or chromosomes; some genetic
disorders may be noticeable at birth & others may not appear
for decades
Dominant and Recessive Patterns
Homozygous – a person who has 2 like genes for a trait (eg,
blue eyes: 1 from the mother & 1 from the father)
Heterozygous – if the genes differ (eg,1 gene for blue eyes
from the mother & 1 gene from brown eyes from the father)
Dominant genes – genes which are expressed in preference for
others
Recessive genes – genes that are not dominant
Homozygous dominant – an individual with 2 homozygous
genes for a dominant trait
Homozygous recessive – an individual with 2 homozygous
genes for a recessive trait
Their children have a 100% chance of being heterozygous for the
trait.
Phenotype – brown eyed (phenotype); but they will carry a
recessive gene for blue eyes in their genotype
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NCM - 109

Judith Manuel Genetics Disorders FACTS  (^1) in 20 newborns has an inherited genetic disorder  (^) Over 30% of pediatric admissions are for genetic-influenced disorders  (^) Inherited or genetic disorders  disorders that can be passed from one generation to the next  (^) Genetics  Study of why disorders occur Nature of Inheritance  In humans, each cell, with the exception of the sperm & ovum, contains 46 chromosomes (44 autosomes and 2 sex chromosomes) in the nucleus  Each chromosome contains thousands of genes  Sex^ chromosomes  46 XX: female46 XY: male Normal Female Karyotype Genes  (^) Basic units of heredity; structures responsible for hereditary characteristics  (^) May or may not expressed or passed to the next generation  (^) According to Mendel’s Law, one gene for each hereditary property is received from each parent; one is dominant (expressed); one is recessive Karyotype  Chromosomal^ pattern^ of^ a^ cell^ including^ genotype,^ number^ of chromosomes & normality or abnormality of the chromosomes Genotype  Actual gene composition  Sequence^ &^ combination^ of^ genes^ on^ a^ chromosome Phenotype  Outward appearance or observable expression of genes(hair color, eye color, body build, allergies) Alleles  (^) Pairs of genes located on the same site on paired chromosomes  (^) Homozygous alleles (DD or dd)  (^) Heterozygous alleles are two different alleles for the same trait (Dd) Congenital and Genetic are not synonymous  (^) Congenital – present at birth because of abnormal development in utero ( teratology)  (^) Genetic – pertains to genes or chromosomes; some genetic disorders may be noticeable at birth & others may not appear for decades Dominant and Recessive Patterns  (^) Homozygous – a person who has 2 like genes for a trait (eg, blue eyes: 1 from the mother & 1 from the father)  (^) Heterozygous – if the genes differ (eg,1 gene for blue eyes from the mother & 1 gene from brown eyes from the father)  (^) Dominant genes – genes which are expressed in preference for others  (^) Recessive genes – genes that are not dominant  (^) Homozygous dominant – an individual with 2 homozygous genes for a dominant trait  (^) Homozygous recessive – an individual with 2 homozygous genes for a recessive trait Their children have a 100% chance of being heterozygous for the trait.  (^) Phenotype – brown eyed (phenotype); but they will carry a recessive gene for blue eyes in their genotype

NCM - 109

Judith Manuel Inheritance of Disease  (^) Mendelian or Single gene disorder A. Autosomal disorders

  1. Autosomal dominant disorders
  2. Autosomal recessive disorders B. Sex-linked disorders
  3. X-linked dominant inheritance
  4. X-linked recessive inheritance  Multifactoral^ inheritanceChromosomal aberrations or abnormalities Autosomal Disorders  Occur^ in^ any^ chromosome^ pair^ other^ than^ the^ sex^ chromosomes  Result^ from^ a^ single^ altered^ gene^ or^ a^ pair^ of^ altered^ genes^ on one of the first 22 pairs of autosomes  Autosomal^ dominant^ or^ Autosomal^ recessive Autosomal dominant traits  Those^ in^ which^ the^ abnormal^ gene^ dominates^ the^ normal^ gene; thus, the condition is always demonstrated when the abnormal gene is present.  The affected parent has a 50% CHANCE OF PASSING ON THE ABNORMAL GENE IN EACH PREGNANCY Autosomal dominantOsteogenesis^ imperfecta^ (bones^ are^ exceedingly^ brittle)  Marfan^ Syndrome^ (disorder^ of^ connective^ tissue;^ child^ is thinner & taller than normal; heart defects)  Huntington’s^ diseaseNeurofibromatosisAchondroplasia^ ( dwarfism) Family pedigrees findings (Autosomal dominant)  1 of^ the^ parents^ of^ the^ child^ with^ the^ disorder^ also^ has^ the disorder  The sex of the effected individual in unimportant in terms of inheritance  History^ of^ the^ disorder^ in^ other^ familym^ members Autosomal recessive traits  Require transmission of the abnormal gene from both parents for the demonstration of the defect in the child  Each^ child^ has^ a^ 50%^ CHANCE^ OF^ BEING^ A^ CARRIER^ OF THE DISORDER  Almost^ all^ carriers^ are^ free^ from^ symptoms Autosomal recessiveAlbanismSickle^ cell^ anemia^ (chronic^ intensely^ painful^ episodes^ caused by obstruction of blood vessels by odd shaped RBC’s; precipitated by dehydration, infection, exposure to cold, trauma, fatigue, lack of oxygen, strenuous physical activity)  The primary nursing action in caring for an adolescent in sickle crisis is directed at maintaining adequate hydration  The spleen usually enlarged due to congestion and engorgement with sickled cells  Cystic^ fibrosis^ (multiple^ organ^ disease;^ the^ primary pathophysiologic mechanism in cystic fibrosis mucus build up in the lungs and pancreas; steatorrhea; azotorrhea)  (^) Inborn errors of metabolism (disorders caused bymthe absence of or defect in enzymes that metabolize proteins, fats or carbohydrates)  Phenylketonuria or PKU (phenylalanine hydroxylase)- brain damage and mental reterdation  Tay Sach’s disease (hexosaminidase)- child is attentive, passive and regresses in motor & social development Family pedigrees findings  (^) Both parents of a child with the disorder are clinically free of the disorder  (^) The sex of the affected individual in unimportant in terms of inheritance  (^) History of the disorder in the family is negative  (^) A known common ancestor between the parents sometimes exists. This is how both male and female have come to possess a like gene for the disorder X – linked disorders  (^) Result from an altered gene on the X chromosome  (^) Maybe dominant or recessive; recessive is more common Family pedigrees findings (X-Linked dominant)  (^) All individuals with the gene are affected  (^) Female children of affected men are all affected; male children of affected men are unaffected  (^) It appears in every generation  (^) All children of homozygous affected women are affected  (^) Example: Hypophosphatemia

NCM - 109

Judith Manuel Percutaneous umbilical blood sampling  removal^ of^ blood^ from^ the^ umbilical^ cord^ using^ an amniocentesis technique  more^ rapid^ karyotyping Sonography/Fetal imaging  assess^ fetus^ for^ general^ size^ and^ structural^ disorders^ of^ the internal organs, spine and limbs  maybe^ used^ concurrently^ with^ amniocentesis Fetoscopy  insertion^ of^ fiberoptic^ fetoscope^ through^ a^ small^ incision^ in the mother’s abdomen into the uterus and membranes to inspect the fetus for gross abnormalities  can^ be^ used^ to^ confirm^ sonography^ finding,^ remove^ skin cells for DNA analysis or perform surgery for a congenital defect Preimplantation diagnosis  maybe^ possible^ in^ the^ future^ to^ remove^ the^ fertilized^ ovum from the uterus before implantation for biopsy or cell analysis Legal and Ethical aspects  participation must be elective  informed^ consent  results^ must^ be^ interpreted^ correctly  confidentiality must be maintained  participation^ must^ be^ a^ free^ and^ individual^ decision Common Chromosomal Disorders  detected^ at^ birth^ on^ physical^ examination  most common are nondisjunction syndromes  many^ of^ these^ disorders^ leave^ children^ cognitively challenged

  1. Trisomy13 Syndrome (Patau syndrome)  (^) children have extra chromosome 13  (^) severely cognitively challenged  (^) incidence is low, .45 per 1,000 live births  (^) midline body disorders present, microcephaly, with abnormalities of the forebrain & forehead  (^) cleft lip & palate  (^) low set ears  (^) heart defects, VSD  (^) abnormal genitalia  (^) most do not survive beyond early childhood 2. Trisomy 18 syndrome  (^3) number 18 chromosomes  (^) severely cognitively challenged  (^) incidence .23 per 1000 live births  (^) small for gestational age (SGA)  (^) low set ears, small jaw, congenital heart defects, misshapen fingers& toes  (^) soles of the feet are rounded not flat (rocker-bottom feet)  (^) don’t survive beyond early infancy 3. Cri-Du-Chat Syndrome  (^) result of a missing portion of chromosome 5  (^) abnormal cry – like a sound of a cat  (^) small head, wide-set ears, downward slant to the palpebral fissure of the eyes  (^) severely cognitively challenged 4. Turner syndrome  (^) gonadal gysnesis, 45 XO  (^) has only 1 functional X chromosome  (^) short in stature  (^) hairline at the nape is low set  (^) neck may appear webbed and short  (^) may have edema of the hands and feet  (^) congenital anomalies eg, coarctationof the aorta; kidney disorders  (^) streak(small & nonfunctional gonads);may have pubic hair in puberty; no other secondary characteristics  (^) incidence is 1 per 10000 live births  (^) on karyotyping, 1 X chromosome only (no Barr body present)  (^) lack of fertility; learning abilities; socioemotional problem  (^) growth hormone may help achieve additional height; estrogen may induce withdrawal bleeding