[Exam 4] Chapter 49 – Nursing Care of the Child with an Alteration in Genetics Flashcards
Trisomy 21: What is this caused by
presence of all or part of an extra 21st chromosome
Trisomy 21: What is this associated with?
Some intellectual disability, slanted eyss, depressed nasal bridge
Trisomy 21: What health problems may they have?
CArdiac defects, visual and hearing impairment, intestinal malformations, and increased susceptibility to infections
Trisomy 21 - Patho: When does this occur on patho level?
Caused by nondisjunction or translocation. There are three 21 chromosomes in ALL cels.
Trisomy 21 - Patho: How does nondisjunction work?`
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
Trisomy 21 - Patho: How does child with mosaic down syndrome act?
Have milder form of the disorder, but this is not a general finding
Trisomy 21 - Patho: How does translocation work?
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
Trisomy 21 - Therapeutic Mx, Managing Complications: What problems may they face?
Cardiac problems from minor to needing surgery. May also have GI problems. Includes celiac and constipation o imperforate anus.
Trisomy 21 - Therapeutic Mx, Managing Complications: How is their vision/hearing?
75% have hearing loss. Also have eye disease commonly.
Trisomy 21 - Therapeutic Mx, Managing Complications: How is their thyroid?
Most have hypothyroidism, but sometimes hyperthyroidism.
Trisomy 21 - Therapeutic Mx, Managing Complications: Increased RF atlantoaxial instability, which is what
increased mobility of the cervical spine at the first and second vertebrae
Trisomy 21 - Therapeutic Mx, Managing Complications: What signs would cause there to be immediate attention?
Neck pain, unusual posturing of head, change in gait, loss of upper body strength, abormal reflexes, or changes in bowel
Trisomy 21 - Therapeutic Mx, Managing Complications: What hematologic problems are they at increasd risk for?
anemia, transient leukemia, leukemia, polycthemia.
Trisomy 21 - Therapeutic Mx, Early Intervention: What healthcare professionals help?
PT, OT, ST, and Social Worokers
Trisomy 21 - Therapeutic Mx, Early Intervention: What do specialized programs focus on?
Providing stimulation and encouragement to child with Down Syndrome. Encourage and accelerate development and prevent developmental delays.
Trisomy 21 - Therapeutic Mx, Early Intervention: How do they progress through developmental stages?
They will progress through them all, but they will do so on their own time table.
Trisomy 21 - Therapeutic Mx, Early Intervention: How will they appear physically?
Hypotonia, ligament laxity, decreased strength, enlarged tongue, and short arms/legs
Trisomy 21 - Health Hx: RFs?
Lack of prenatal screening
Abnormal prenatal screening
Older than 35
Trisomy 21 - Health Hx: How can down syndrome risk screening be calculated?
By incorporating maternal age prenatally between 11-14 weeks using ultrasound and blood tests
Trisomy 21 - Health Hx: Common labs to assess complications include?
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)
Trisomy 21 - Promoting Growth and Development: How to they tend to grow?
Grow slowly, learn slowly, and have shorter attention spans. Personality is wamrth and cheerful.
Inborn Errors of Metabolism: What is this
Group of hereditary disorders, usually a autosomal recessive inheritence pattern.
Inborn Errors of Metabolism: Gene mutations result in abnormalites that cause what
abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats. Cannot convert food how it normally would.
Inborn Errors of Metabolism: Most inborn errors caused by what
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.
Inborn Errors of Metabolism: What is used to detect these before they happen?
Newborn screening
Inborn Errors of Metabolism - Phenyketonuria (PKU): What i this?
Deficiency in a liver enzyme leading to inability to procress the essential amino acid phenylalanine. Leads to brain damage.
Inborn Errors of Metabolism - Phenyketonuria (PKU): If undiagnosed, what happens?
Developmental delay along with vomiting, irritability, eczema-like rash, mousy odor.
Inborn Errors of Metabolism - Phenyketonuria (PKU): Management of this?
Low phenylalanine diet. Found in protein contianing foods.
Inborn Errors of Metabolism - Galactosemia: What is this?
Deficiency in the liver enzyme needed to convert galactose, breakdown product of lactose, commonly found in dairy products
Inborn Errors of Metabolism - Galactosemia: Galactose accumulations leads to what
damage to vital organs
Inborn Errors of Metabolism - Galactosemia: What will happen if undiagnosed?
Jaundice. Will have feeding intolerance, diarrhea, and vomiting and will not gain weight. Can lead to liver disease and blindness
Inborn Errors of Metabolism - Galactosemia: Treatment?
Eliminiation of galactose and lactose from diet.
Inborn Errors of Metabolism - Maple Sugar Urine Disease: What is this?
Affects metabolism of amino acids. Cannot metabolize leucine, isoleucine, and valine which are products of branch chain for amino aicds. Can damage brain
Inborn Errors of Metabolism - Maple Sugar Urine Disease: If untreated, will show what signs
neurologic signs, vomiting, poor feeding, increased reflex action and seizures.
Inborn Errors of Metabolism - Maple Sugar Urine Disease: Management?
Special low protein diet. Thiamine supplements may be given
Inborn Errors of Metabolism - Biotinidase Defiency: What is this
lack of enzyme biotinidase results in biotin deficiency
Inborn Errors of Metabolism - Biotinidase Defiency: Symptoms if untreated?
Hypotonia, uncoordinated movement, seizures, developemtnal delay, and alopecia
Inborn Errors of Metabolism - Biotinidase Defiency: Management for this?
Daily oral free biotin
Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): What is this
lack of enzyme required to metabolize fatty acids
Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): Signs of this?
3-15 months, vomiting and lethargy. Recurrent episodes of metabolic acidosis and hypoglycemia
Inborn Errors of Metabolism - Medium-Chain Acyl-CoA Dehydrogenase DEficiency (MCAD): Management?
aVOID fasting, have frequent meals. L-Carnitine supplementation when ill
Inborn Errors of Metabolism - Homocystinuria: what is this
deficiency in the enzyme needed to digest a component of food called methionine
Inborn Errors of Metabolism - Homocystinuria: Signs of this?
Can lead to intellectual disability, psychiatric disturbances, developemntal d elays and displacement of lens of eyes
Inborn Errors of Metabolism - Homocystinuria: Management?
Vitamin B6 and B12 supplements adn others like betaine and folic acid
Inborn Errors of Metabolism - Tyrosinemia: What is this
DEficiency in enzyme essential in metabolism of tyrosine. Accumulations results in liver/kidney damage
Inborn Errors of Metabolism - Tyrosinemia: Signs of this?
First few months. Fever, failure to thrive, poor weight gain, vomiting, diarrhea, cabbage-like odor, enlarged liver
Inborn Errors of Metabolism - Tyrosinemia: Maangement?
Diet low in phenylalanine, methionine, and tyrosine
Inborn Errors of Metabolism - Tay-Sachs: What is this
Caused by hexosaminidase A, which is necessary for breakdwon of certain fatty substances in braina dn nerve cells
Inborn Errors of Metabolism - Tay-Sachs: Signs of this?
Build in tissues and causes damage, mental and physical deterioration. Can come blind, deaf, and unable to swallow. Muscles begin to atrophy
Inborn Errors of Metabolism - Tay-Sachs: Management?
Symptoms an dmaintaing comfort. Anticonvulsants may be given to control seizures. Death by 4-5
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
Teaching hygiene skills to the child in order to increase self-esteem
