[Exam 4] Chapter 49 – Nursing Care of the Child with an Alteration in Genetics

Question 1

Trisomy 21: What is this caused by

Answer 1

presence of all or part of an extra 21st chromosome

Question 2

Trisomy 21: What is this associated with?

Answer 2

Some intellectual disability, slanted eyss, depressed nasal bridge

Question 3

Trisomy 21: What health problems may they have?

Answer 3

CArdiac defects, visual and hearing impairment, intestinal malformations, and increased susceptibility to infections

Question 4

Trisomy 21 - Patho: When does this occur on patho level?

Answer 4

Caused by nondisjunction or translocation. There are three 21 chromosomes in ALL cels.

Question 5

Trisomy 21 - Patho: How does nondisjunction work?`

Answer 5

Occurs after fertilization and mixture of tell cells seen. Some cells have 47 chromosomes, while some have 46. Referred to as mosaic form of Down Syndrome

Question 6

Trisomy 21 - Patho: How does child with mosaic down syndrome act?

Answer 6

Have milder form of the disorder, but this is not a general finding

Question 7

Trisomy 21 - Patho: How does translocation work?

Answer 7

Part of the number 21 chromosome break off during cell division to another chromosome (14). Cell remains with 46 chromosomes, but extra chromosome results in down syndrome

Question 8

Trisomy 21 - Therapeutic Mx, Managing Complications: What problems may they face?

Answer 8

Cardiac problems from minor to needing surgery. May also have GI problems. Includes celiac and constipation o imperforate anus.

Question 9

Trisomy 21 - Therapeutic Mx, Managing Complications: How is their vision/hearing?

Answer 9

75% have hearing loss. Also have eye disease commonly.

Question 10

Trisomy 21 - Therapeutic Mx, Managing Complications: How is their thyroid?

Answer 10

Most have hypothyroidism, but sometimes hyperthyroidism.

Question 11

Trisomy 21 - Therapeutic Mx, Managing Complications: Increased RF atlantoaxial instability, which is what

Answer 11

increased mobility of the cervical spine at the first and second vertebrae

Question 12

Trisomy 21 - Therapeutic Mx, Managing Complications: What signs would cause there to be immediate attention?

Answer 12

Neck pain, unusual posturing of head, change in gait, loss of upper body strength, abormal reflexes, or changes in bowel

Question 13

Trisomy 21 - Therapeutic Mx, Managing Complications: What hematologic problems are they at increasd risk for?

Answer 13

anemia, transient leukemia, leukemia, polycthemia.

Question 14

Trisomy 21 - Therapeutic Mx, Early Intervention: What healthcare professionals help?

Answer 14

PT, OT, ST, and Social Worokers

Question 15

Trisomy 21 - Therapeutic Mx, Early Intervention: What do specialized programs focus on?

Answer 15

Providing stimulation and encouragement to child with Down Syndrome. Encourage and accelerate development and prevent developmental delays.

Question 16

Trisomy 21 - Therapeutic Mx, Early Intervention: How do they progress through developmental stages?

Answer 16

They will progress through them all, but they will do so on their own time table.

Question 17

Trisomy 21 - Therapeutic Mx, Early Intervention: How will they appear physically?

Answer 17

Hypotonia, ligament laxity, decreased strength, enlarged tongue, and short arms/legs

Question 18

Trisomy 21 - Health Hx: RFs?

Answer 18

Lack of prenatal screening

Abnormal prenatal screening

Older than 35

Question 19

Trisomy 21 - Health Hx: How can down syndrome risk screening be calculated?

Answer 19

By incorporating maternal age prenatally between 11-14 weeks using ultrasound and blood tests

Question 20

Trisomy 21 - Health Hx: Common labs to assess complications include?

Answer 20

Echocardiogram (to detect cardiac effects)

Vision and Hearing Screening (to detect vision)

Thyroid hormone levels (to detect thyroid disease)

Cervical X-Ray ( to assess for atlantoaxial instrability)

Question 21

Trisomy 21 - Promoting Growth and Development: How to they tend to grow?

Answer 21

Grow slowly, learn slowly, and have shorter attention spans. Personality is wamrth and cheerful.

Question 22

Inborn Errors of Metabolism: What is this

Answer 22

Group of hereditary disorders, usually a autosomal recessive inheritence pattern.

Question 23

Inborn Errors of Metabolism: Gene mutations result in abnormalites that cause what

Answer 23

abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats. Cannot convert food how it normally would.

Question 24

Inborn Errors of Metabolism: Most inborn errors caused by what

Answer 24

due to defect in an enzyme or transport protein that results in a block in the metabolic pathway. Allows for accumulation of damanging by-product of impaired metabolic process.

Question 25

Inborn Errors of Metabolism: What is used to detect these before they happen?

Answer 25

Newborn screening

Question 26

Inborn Errors of Metabolism - Phenyketonuria (PKU): What i this?

Answer 26

Deficiency in a liver enzyme leading to inability to procress the essential amino acid phenylalanine. Leads to brain damage.

Question 27

Inborn Errors of Metabolism - Phenyketonuria (PKU): If undiagnosed, what happens?

Answer 27

Developmental delay along with vomiting, irritability, eczema-like rash, mousy odor.

Question 28

Inborn Errors of Metabolism - Phenyketonuria (PKU): Management of this?

Answer 28

Low phenylalanine diet. Found in protein contianing foods.

Question 29

Inborn Errors of Metabolism - Galactosemia: What is this?

Answer 29

Deficiency in the liver enzyme needed to convert galactose, breakdown product of lactose, commonly found in dairy products

Question 30

Inborn Errors of Metabolism - Galactosemia: Galactose accumulations leads to what

Answer 30

damage to vital organs

Question 31

Inborn Errors of Metabolism - Galactosemia: What will happen if undiagnosed?

Answer 31

Jaundice. Will have feeding intolerance, diarrhea, and vomiting and will not gain weight. Can lead to liver disease and blindness

Question 32

Inborn Errors of Metabolism - Galactosemia: Treatment?

Answer 32

Eliminiation of galactose and lactose from diet.

Question 33

Inborn Errors of Metabolism - Maple Sugar Urine Disease: What is this?

Answer 33

Affects metabolism of amino acids. Cannot metabolize leucine, isoleucine, and valine which are products of branch chain for amino aicds. Can damage brain

Question 34

Inborn Errors of Metabolism - Maple Sugar Urine Disease: If untreated, will show what signs

Answer 34

neurologic signs, vomiting, poor feeding, increased reflex action and seizures.

Question 35

Inborn Errors of Metabolism - Maple Sugar Urine Disease: Management?

Answer 35

Special low protein diet. Thiamine supplements may be given

Question 36

Inborn Errors of Metabolism - Biotinidase Defiency: What is this

Answer 36

lack of enzyme biotinidase results in biotin deficiency

Question 37

Inborn Errors of Metabolism - Biotinidase Defiency: Symptoms if untreated?

Answer 37

Hypotonia, uncoordinated movement, seizures, developemtnal delay, and alopecia

Question 38

Inborn Errors of Metabolism - Biotinidase Defiency: Management for this?

Answer 38

Daily oral free biotin

Question 39

Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): What is this

Answer 39

lack of enzyme required to metabolize fatty acids

Question 40

Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): Signs of this?

Answer 40

3-15 months, vomiting and lethargy. Recurrent episodes of metabolic acidosis and hypoglycemia

Question 41

Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): Management?

Answer 41

aVOID fasting, have frequent meals. L-Carnitine supplementation when ill

Question 42

Inborn Errors of Metabolism - Homocystinuria: what is this

Answer 42

deficiency in the enzyme needed to digest a component of food called methionine

Question 43

Inborn Errors of Metabolism - Homocystinuria: Signs of this?

Answer 43

Can lead to intellectual disability, psychiatric disturbances, developemntal d elays and displacement of lens of eyes

Question 44

Inborn Errors of Metabolism - Homocystinuria: Management?

Answer 44

Vitamin B6 and B12 supplements adn others like betaine and folic acid

Question 45

Inborn Errors of Metabolism - Tyrosinemia: What is this

Answer 45

DEficiency in enzyme essential in metabolism of tyrosine. Accumulations results in liver/kidney damage

Question 46

Inborn Errors of Metabolism - Tyrosinemia: Signs of this?

Answer 46

First few months. Fever, failure to thrive, poor weight gain, vomiting, diarrhea, cabbage-like odor, enlarged liver

Question 47

Inborn Errors of Metabolism - Tyrosinemia: Maangement?

Answer 47

Diet low in phenylalanine, methionine, and tyrosine

Question 48

Inborn Errors of Metabolism - Tay-Sachs: What is this

Answer 48

Caused by hexosaminidase A, which is necessary for breakdwon of certain fatty substances in braina dn nerve cells

Question 49

Inborn Errors of Metabolism - Tay-Sachs: Signs of this?

Answer 49

Build in tissues and causes damage, mental and physical deterioration. Can come blind, deaf, and unable to swallow. Muscles begin to atrophy

Question 50

Inborn Errors of Metabolism - Tay-Sachs: Management?

Answer 50

Symptoms an dmaintaing comfort. Anticonvulsants may be given to control seizures. Death by 4-5

Question 51

The nurse is caring for a child with Down syndrome. What should the nurse’s focus be?

Teaching hygiene skills to the child in order to increase self-esteem
Screening for anomalies and teaching about prevention of respiratory infection
Finding opportunities to increase socialization for the child and family
Expecting walking at age 1 year and toilet training completion at age 2 years

Answer 51

Teaching hygiene skills to the child in order to increase self-esteem