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

NRSG 206: OB > [Exam 4] Chapter 49 – Nursing Care of the Child with an Alteration in Genetics > Flashcards

Flashcards in [Exam 4] Chapter 49 – Nursing Care of the Child with an Alteration in Genetics Deck (51)
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1
Q

Trisomy 21: What is this caused by

A

presence of all or part of an extra 21st chromosome

2
Q

Trisomy 21: What is this associated with?

A

Some intellectual disability, slanted eyss, depressed nasal bridge

3
Q

Trisomy 21: What health problems may they have?

A

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

4
Q

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

A

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

5
Q

Trisomy 21 - Patho: How does nondisjunction work?`

A

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

6
Q

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

A

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

7
Q

Trisomy 21 - Patho: How does translocation work?

A

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

8
Q

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

A

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

9
Q

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

A

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

10
Q

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

A

Most have hypothyroidism, but sometimes hyperthyroidism.

11
Q

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

A

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

12
Q

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

A

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

13
Q

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

A

anemia, transient leukemia, leukemia, polycthemia.

14
Q

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

A

PT, OT, ST, and Social Worokers

15
Q

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

A

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

16
Q

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

A

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

17
Q

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

A

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

18
Q

Trisomy 21 - Health Hx: RFs?

A

Lack of prenatal screening

Abnormal prenatal screening

Older than 35

19
Q

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

A

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

20
Q

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

A

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)

21
Q

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

A

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

22
Q

Inborn Errors of Metabolism: What is this

A

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

23
Q

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

A

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

24
Q

Inborn Errors of Metabolism: Most inborn errors caused by what

A

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.

25
Q

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

A

Newborn screening

26
Q

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

A

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

27
Q

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

A

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

28
Q

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

A

Low phenylalanine diet. Found in protein contianing foods.

29
Q

Inborn Errors of Metabolism - Galactosemia: What is this?

A

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

30
Q

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

A

damage to vital organs

31
Q

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

A

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

32
Q

Inborn Errors of Metabolism - Galactosemia: Treatment?

A

Eliminiation of galactose and lactose from diet.

33
Q

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

A

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

34
Q

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

A

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

35
Q

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

A

Special low protein diet. Thiamine supplements may be given

36
Q

Inborn Errors of Metabolism - Biotinidase Defiency: What is this

A

lack of enzyme biotinidase results in biotin deficiency

37
Q

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

A

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

38
Q

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

A

Daily oral free biotin

39
Q

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

A

lack of enzyme required to metabolize fatty acids

40
Q

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

A

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

41
Q

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

A

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

42
Q

Inborn Errors of Metabolism - Homocystinuria: what is this

A

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

43
Q

Inborn Errors of Metabolism - Homocystinuria: Signs of this?

A

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

44
Q

Inborn Errors of Metabolism - Homocystinuria: Management?

A

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

45
Q

Inborn Errors of Metabolism - Tyrosinemia: What is this

A

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

46
Q

Inborn Errors of Metabolism - Tyrosinemia: Signs of this?

A

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

47
Q

Inborn Errors of Metabolism - Tyrosinemia: Maangement?

A

Diet low in phenylalanine, methionine, and tyrosine

48
Q

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

A

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

49
Q

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

A

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

50
Q

Inborn Errors of Metabolism - Tay-Sachs: Management?

A

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

51
Q

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
A

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

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