Med-Surg: Chapter 19: DiGeorge's Syndrome

Question 1

What is DiGeorge’s Syndrome

Answer 1

primary immune dysfunction: T-cell deficiency

• autosomal-dominant (presence of one altered gene) genetic condition that arises from the 22-nd chromosome
• arises spontaneously, present at birth

Question 2

Autosomal-dominant

Answer 2

means that the presence of only one altered gene is required for the disease to be present
-the child who receives the altered gene from an affected parent will manifest symptoms of the disease

Question 3

Pathophysiology

Answer 3

arises from a disturbance of the normal embryological development of the pharyngeal pouches occurring between the 6th and 10th weeks of gestation
-Pharyngeal pouches are the embryonic precursors to specific organ systems in the head, neck, and chest (ex: the third and fourth pharyngeal pouches develop into thymus, parathyroid gland and aorta; pulmonary arteries arise from the 6th pharyngeal pouch)

Question 4

The effects of DiGeorge’s Syndrome Depend on what?

Answer 4

dependent on which pharyngeal pouch is affected but typically involve dysfunction of the thymus gland and parathyroid, facial deformities such as cleft palate, and heart anomalies

Question 5

Thymus Gland

Answer 5

responsible for T-cell production and differentiation

-thymus dysfunction= T-cell deficiencies

Question 6

DiGeorge’s Syndrome Easily explained

Answer 6

it is a deficiency in the T-cell

• it is genetic
• depletion of parts of 22nd chromosome
• it happens when there is a disturbance in embryonic development
• the pharyngeal pouch that creates the thymus is disturbed leading to a decrease in T-cell production (the thymus produces T-cells)
• disturbance of the development of the pouches that lead to eventual development of the thymus and parathyroid gland, facial structures, and cardiac structures

Question 7

T-Cell deficiency Infections

Answer 7

yeast, fungal, protozoan, and viral, such as chickenpox, measles, and rubella

• candida albicans is almost always seen with T-cell deficiencies
• frequent colds or ear infections

Question 8

General Manifestations

Answer 8

• weakness or tiring easily
• failure to thrive
• failure to gain weight
• difficulty feeding

Question 9

Respiratory Manifestations

Answer 9

• frequent infections
• SOB
• bluish skin due to low oxygen-rich blood

Question 10

Other Manifestations

Answer 10

• twitching or spasms around the mouth, hands, arms, or throat
• poor muscle tone
• delayed development of infant milestones
• delayed speech development
• learning delays or difficulties, emotional and behavior problems
• cleft palate or other problems with the palate
• facial features: low-set ears, wide-set eyes, or a narrow groove in the upper lip

Question 11

Acronym: CATCH 22

Answer 11

• Cardiac abnormality (especially tetralogy of Fallot)
• Abnormal faces
• Thymic aplasia
• Cleft palate
• Hypocalcemia- hypoparathyroidism

Question 12

Diagnosis

Answer 12

done by genetic testing
-determined with a finding of submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization
>fluorescence in situ hybridization uses fluorescence microscopy to find specific features in DNA

Question 13

Treatment

Answer 13

• calcium supplements to prevent tetany and seizures (can be caused by hypocalcemia from hypoparathyroidism if the parathyroid gland is affected)
• may require treatment of infections
• IVIG to provide short-term passive immunity

Question 14

Surgical Management: Thymus Tissue Transplantation

Answer 14

• if thymus is absent
• performed within 3 to 6 months of birth, prior to onset of multiple infections
• the tissue is obtained from infants having cardiac surgery; with parents consent tissue is saved from cardiac surgery to use for thymus transplantation
• surgery may also be an option to correct the cardiac defects of the disease (tetralogy of Fallot)

Question 15

Complications

Answer 15

• may cause problems with the development and function of the brain, resulting in learning, social, developmental, or behavioral problems
• delays in speech development and learning difficulties
• some develop ADHD, autism, or autism-related disorders
• in later life, at risk for depression, anxiety disorders, schizophrenia, and other psychiatric disorders
• due to small thymus, have an increased risk of autoimmune disorders such as rheumatoid arthritis and Grave’s disease
• at risk for graft-versus-host disease; when T-cells in grafted tissue such as transfuse blood attack and destroy the host’s tissues

Question 16

The Clinical Manifestations are due to what?

Answer 16

the disturbance of normal embryonic development of the pharyngeal pouches that leads to eventual development of the thymus and parathyroid gland, facial structures, and cardiac structures

Question 17

Nursing Diagnoses

Answer 17

• Risk for complications of opportunistic infections
• Risk for infection r/t compromised host defenses secondary to T-cell immunodeficiency (inadequate function of B cells secondary to T-cell deficiencies)
• High risk for ineffective airway clearance r/t laryngospasm secondary to hypocalcemia

Question 18

Nursing Interventions: Assessment of Vital Signs

Answer 18

• increased temperature = infection

- respiratory rate may increase with respiratory infections in an effort to increase oxygenation

Question 19

Nursing Interventions: Lung Sounds

Answer 19

-decreased or adventitious breath sounds may be present with a respiratory infection

Question 20

Nursing Interventions: Calcium Levels

Answer 20

calcium levels may be decreased b/c of hypoparathyroidism

Question 21

Nursing Interventions: Assess for Tetany

Answer 21

lack of plasma calcium due to hypoparathyroidism leads to increased neuromuscular activity such as sustained contractions

Question 22

Nursing Interventions: Monitor WBCs

Answer 22

an increased WBC count = infection

-these values help determine presence of infection and evaluate response to treatment

Question 23

Nursing Actions

Answer 23

> Administer Calcium Supplements;
-low serum calcium concentration requires calcium supplementation to prevent complications like tetany and bronchospasm
Infection control precautions and standard precautions; hand hygiene:
-prevent infection: hygiene practices is best infection-prevention measure
Strategies for addressing feeding difficulties include modification of spoon placement when eating; treatment of gastroesophageal reflux with acid blockade, prokinetic agents, and postural therapy; and medication to treat GI dysmotility and facilitate bowel evacuation
Coordinate care for cardiac, infectious disease specialists, and speech pathologists

Question 24

Teachings

Answer 24

> Overview of the disease process
Growth and Developmental Milestones, need for early assessment for learning disabilities, need for ongoing medical care and evaluation
Information and emotional support from networking with other parents of children with similar problems

Question 25

Evaluating Care Outcomes

Answer 25

well managed child has limited infections, no seizures, and growth and development within normal limits
-accomplished through appropriate treatment with an interprofessional team, adequate monitoring for complications, and support for the caregivers of the child

Question 26

Assessment Data: Recurrent Infections

Answer 26

-immunodeficiency occurs as a result of thymic hypoplasia, resulting in impaired T-cell production

Question 27

Assessment Data: Cardiac Abnormality

Answer 27

(especially Tetralogy of Fallot)

• causes cyanosis, heart murmur, difficulty in feeding, failure to gain weight, retarted growth and physical development, dyspnea on exertion, clubbing of the fingers and toes, and polycythemia
• cardiac anomalies are a result of a disturbance of normal embryological development of the pharyngeal pouches–embryonic precursors to specific organ systems in the head, neck, and chest

Question 28

Assessment Data: Abnormal Faces and Craniofacial Findings

Answer 28

• auricular abnormalities, nasal abnormalities, “hooded eyelids”, increased distance between the eyes (ocular hypertelorism), cleft lip and palate, asymmetric crying faces, and premature fusing of the cranial sutures
• deletion of the portion of chromosome 22 leads to abnormal development of the structures of the face

Question 29

Assessment Data: Cleft Palate

Answer 29

• may be a structural problem, functional problem, or combination
• b/c of the chromosome deletion, development of the palate is affected in utero

Question 30

Assessment Data: Hypocalcemia

Answer 30

due to decreased functioning of the parathyroid gland, hypocalcemia is present

Question 31

Assessment Data: Assessment of Possible feeding problems

Answer 31

-such as gastroesophageal reflux; difficulty sucking/swallowing, advancing feeds, addition of textured foods; and vomiting and constipation
may need NG tube feedings or gastrostomy tube placement