Chapter 18: "Reproductive and Genetic Disorders"

Lakukan tugas rumah & ujian kamu dengan baik sekarang menggunakan Quizwiz!

The nursing student is discussing a client with his instructor. The client is a 13-year-old male who is admitted to the unit for post-op care of an inguinal hernia. Which statement made by the nursing student is correct?

"Conditions that can increase the occurrence of hernias in adolescents include lifting heavy objects, obesity, constipation, and recurrent coughing or sneezing."

The nursing student is discussing male anatomy and physiology with her preceptor. The preceptor recognizes that the nursing student needs more education when she makes which statement?

"The epididymis holds the testicle in the scrotum." spermatic cord suspends the testicle within the scrotum and encloses the vas deferens, blood vessels, and testicular nerves.

Vulvar Ulcers

Also known as Lipschitz ulcers, "virginal" ulcers, or "aphthous" ulcers Generally seen in girls aged 10 to 15 years Present as one or more painful ulcers more than 1 cm in diameter with purulent bases and raised red edges Non sexually transmitted; associated with viral infections such as influenza A, Epstein-Barr virus, or cytomegalovirus, but should also test for herpes simplex virus types 1 and 2 Nursing Interventions May require a Foley catheter to urinate Topical antibiotic if secondary infection Usually heals in 1 to 3 weeks Pain management

Neurofibromatosis, Type 1 (Von Recklinghausen's Disease)

Also known as peripheral neurofibromatosis; the result of a single "non-sense" mutation on the long arm of chromosome 17, Autosomal dominant inheritance pattern—presence of just one copy of the abnormal 17q11.2 mutation plus one normal allele results in the disease syndrome There is a 50% chance with each pregnancy that the newborn will inherit the disease syndrome from an affected parent The name café au last is French for "milky coffee" and refers to their light-brown color Freckling" in the axillary or inguinal regions—minute irregular and sometimes raised areas Optic glioma—enlargements of the optic nerve Litchi nodules characteristically are raised, often pigmented hamartomas of the iris A distinctive bony lesion

Thelarche

Appearance of breast tissue maturation

X-Linked Hydrocephalus

Approximately 50% of affected boys have adducted thumbs (held inward toward the palms), which is helpful in making the diagnosis. Some have other CNS abnormalities: Malformation of the corpus callosum Small brainstem Absence of the pyramidal tract Mutations in L1 also result in other conditions, known as the L1 spectrum, which is characterized by neurological abnormalities and mental retardation. These include MASA spectrum (mental retardation, aphasia, shuffling gait, adducted thumbs), X-linked spastic paraplegia type 1, and X-linked agenesis of the corpus callosum.

The nursing instructor is teaching a class about fragile X syndrome and pediatric care. Which are appropriate nursing actions?

Assess for language delays and autistic behaviors. Assess for feeding issues in infants. Teach caregivers the importance of behavioral therapy to address behavior concerns.

A child is brought to the clinic with complaints of difficulty walking and balance issues. The provider notes a high-arched foot and unilateral hammer toes. Which plan would be best to assist in health promotion?

Encourage stretching exercises to improve flexibility and improve physical function.

phimosis

stenosis or narrowing of foreskin so that it cannot be retracted over the glans penis

Menstruation is

the active shedding of the endometrial lining of the uterus in a cyclic fashion in response to estrogen and progesterone hormone changes often irregular in the first months to up to 3 years after menarche. The average adult menstrual cycle lasts 28 to 35 days with 4 to 6 days of menstrual bleeding

An instructor is teaching a group of nursing students about the female anatomy and reproduction. Which statements related to the female reproductive organs are correct?

Females have two ovaries, which produce the ova. The uterus is positioned above the bladder. It produces the menstrual cycle and carries a fetus. The clitoris is covered by the labia minor. The vagina connects the cervix to the vulva. The endometrium is the layer of cells that lines the uterus

The nurse educator is teaching a group of new nurses about the seven criteria for diagnosing neurofibromatosis type 1. The nurse documents that which assessment findings need further evaluation related to this diagnosis?

Freckles under the arms Café au lait spots Large head circumference

The nurse is teaching a mother with an infant diagnosed with achondroplasia. Which response by the mother indicates that the nurse should provide further teaching?

He should be placed in a swing or Exersaucer to strengthen his neck and back muscles." This is contraindicated due to the excessive head movement and poor trunk support.

The nurse is teaching a mother about the care of her uncircumcised infant. Which response made by the mother indicates that the nurse should provide further education?

I can begin retracting the foreskin to prevent phimosis."

An infant diagnosed with von Williams syndrome presented to the pediatrician's office with extreme irritability, vomiting, and constipation. What is the priority nursing intervention for this infant?

Idiopathic infantile hypercalcemia is a distinctive feature of von Williams syndrome and a calcium level should be obtained.

Straddle Injury

Injury to genitals as the result of a fall over a blunt object in which tissues are compressed between bone and blunt object Common in school-age children Commonly caused from monkey bars or bicycle Avoid surgical drainage to prevent introduction of bacteria and abscess Small (size of a hen's egg): bedrest, intermittent use of ice pack with pressure for 12 to 24 hours Medium (size of an orange): as above, bedrest, ice for first 12 to 24 hours, then warm tub baths or Sitz-type soaking bath in addition Large (size of a grapefruit or larger): must assess for urethral obstruction; may require suprapubic catheter

Achondroplasia

It is a bone growth disorder that causes the most common type of dwarfism. It is the most common form of disproportionate short stature. Occurs once in every 15,000 to 40,000 live births

Vulvovaginitis is inflammation of the vulva and vaginal areas.

It is the most common complaint involving the genital area of prepubescent girls Symptoms may include vaginal itching (pruritus), soreness, redness (erythema), thin vaginal discharge, or painful urination (dysuria). This condition can be caused by an infection or by nonspecific irritants such as tight nylon undergarments, bubble bath, or perfumed bath products.

A nurse is teaching an in-service about Turner syndrome. Which characteristics and assessment findings are indicative of this genetic disorder?

Lack of pubertal development Short in stature Infertility issues

Fragile X Syndrome

Long, narrow face Prominent jaw and forehead Large, protruding ears High, arched palate Loose connective tissue Loose connective tissue can cause: Hyperextensible joints Flat feet Mitral valve dysfunction After puberty, men have remarkably enlarged testicles (macro-orchidist)Issues with communication, generally speech and language delays IQ in mild-to-moderate intellectual disability range Hyperactivity Stereotypic behaviors may also be displayed, such as the following: Hand flapping Lack of eye contact and inattention Aggression and anxiety Higher incidence of meeting criteria of autistic spectrum disorder Females with the full mutation often have the following characteristics: Subtler facial features Less severe degrees of developmental delay and speech and language issues

which phase is the egg released for fertilization?

Luteal phase

is reproductive division, that is, creating four daughter cells, each one containing only 23 single alleles. _______ can only take place in the germ cell to create the reproductive gametes, the egg and sperm.

Meiosis

The nurse is caring for a newborn suspected of having trisomy 21. Which assessment data will require further evaluation related to this possible diagnosis?

Mild heart murmur Head circumference of 32 cm; Chest circumference of 35 cm Poor suck reflex

A mother brings her 3-day-old infant to the clinic for the child's first newborn exam. When the nurse assesses the infant, she notices a purple-red lesion over the right eyelid. Based on this assessment finding, what condition does the nurse suspect the infant has?

Sturge-Weber syndrome (SWS)

Neurofibromatosis, Type 2

Symptoms usually appear in the teens or young adulthood. Tumors frequently occur on the auditory nerve, causing: Hearing loss Ringing in the ears Problems with balance Problems with hearing and balance worsen over time, causing greater disability than children experience with NF-1

A 14-year-old male is being evaluated in the urgent care clinic for scrotal swelling. The nurse recognizes which condition is a medical emergency?

Testicular torsion

The nurse educator is discussing bacterial vaginosis (BV) with a group of nursing students. Which statement about BV is correct?

The cause of bacterial vaginosis is a disruption of normal vaginal flora.

Phenylketonuria

The result is accumulation of phenylalanine in the blood and brain, causing brain damage with progressive intellectual disability. Affected children appear completely asymptomatic at birth, although commonly fair, blonde, and blue-eyed, then progressive intellectual disability occurs.

Pinworms

Tiny worms with fecal-oral spread Adult female worms live in gastrointestinal (GI) tract, are not shed in stool, and come out to lay eggs in warm perineal areas, mostly at night Vulvar and perianal itching usually present "Tape test": use sticky side of tape to lift bean-shaped white eggs from area; may see white 5- to 13-mm adult worms Nursing Interventions Teach proper hand hygiene after using the bathroom and after contact with feces. Administer medications as prescribed by physician. Avoid scratching perianal area.

16-year-old female reports heavy menstrual flow lasting 8 days for the past several months. Which condition would the nurse suspect is the cause of her abnormal menstrual flow?

Von Willebrand disease

A 12-year-old female has started menstruating. The nurse is providing education on the menstruation cycle. The nurse recognizes that the client needs more education when she makes which statement?

"I can expect to have 7 to 10 days of menstrual bleeding." should be only 4-6

The nurse is providing discharge instructions for post-op care of an inguinal hernia repair to a 16-year-old male and his mother. The nurse recognizes the client needs further education when he makes which statement?

"I can return to my weight lifting class now that the hernia is fixed."

A 16-year-old client tested positive for chlamydia and stated she had been with multiple partners. The nurse explained the risk of sexually transmitted infections (STI) to the client and the importance of screening and treatment. Which statement by the client indicates the need for further education?

"I need to have a pregnancy test and also a test to make sure I am cured in 3 weeks."

A 2-year-old child is brought to the clinic for a well-child appointment. The child has been diagnosed with Williams syndrome. The nurse is providing anticipatory guidance for the mother. The nurse recognizes the mother understands the education when she makes which statement?

"I need to monitor my child's calcium and vitamin D intake to prevent the risk of renal stones."

The mother of a 1-year-old boy has brought her son to the clinic for a well-child appointment. The child is being evaluated for phimosis. The nurse recognizes the mother needs more education when she makes which statement?

"I should apply a topical corticosteroid to the area for 6 weeks."

A 4-year-old male has been diagnosed with pinworms. The nursing student has been asked to provide the mother with education on pinworms. The supervising nurse recognizes that the student nurse needs more education on pinworms when she makes which statement?

"Inspect your child's stool for adult worms." Adult female worms live in the gastrointestinal tract and are not shed in stool. They come out to lay eggs in warm perianal areas, mostly at night.

A newborn female has been diagnosed with Prader-Willi syndrome. The nurse providing anticipatory guidance to the family recognizes the mother needs further education when she makes which statement?

"My baby will get all the nutrition he needs from breastfeeding." Feeding support and supplements are indicated in the newborn period. Due to physical limitations, infants with Prader-Willi syndrome can rarely breastfeed.

A 2-week-old infant is brought to the clinic by his mother for a circumcision. The nurse is providing education for care after circumcision. What should the nurse advise?

"Notify the provider immediately for fever." Pain management should be provided The site should be washed with mild soap and water after diaper changes. The provider should be notified for excessive bleeding and oozing, swelling, or draining around the surgical site.

A 17-year-old female has been diagnosed with trichomoniasis. The nurse providing education recognizes that the teen needs further education when she makes which statement?

"After my sexual partner is treated, we can resume sexual contact."

An adolescent girl has been diagnosed with a vulvar ulcer. Her mother asks for more information from the nurse. The nurse should respond with which statement?

"Treatment of vulvar ulcers involves pain management." usually heal in 1 to 3 weeks.

A school nurse is teaching a group of high school students in a health class about the risk factors for sexually transmitted infections (STIs). Which behavioral risk factors play a role in the increased incidence of STIs in adolescence?

A couple that occasionally uses condoms Drinking alcohol at a party Being sexually active with multiple partners Oral sex for the first time with a new partner

Epididymis

A long, coiled duct on the outside of the testis in which sperm mature.

______ is the cause of most frequent gynecological complaints

Abnormal uterine bleeding

Cri Du Chat Syndrome

Cat cry" syndrome—the result of a deletion or loss of a portion of chromosome 5 Assessment Distinctive high-pitched, catlike cry Profound microcephaly, round face with widely spaced eyes, epicanthal folds, and low-set ears; significant intellectual disability Nursing Interventions Supportive care—feeding issues and poor growth All children with this diagnosis need early referral to genetics and neurology

Velocardial Facial Syndrome

Characteristic but subtle facial appearance Increased vertical length Long cylindrical or tubular nose Small posterior jaw (retrognathia) Hooded upper eyelids Mild developmental delays Learning disabilities Social immaturity Hypernasal speech Impulsivity Anxiety or phobias Classic DiGeorge sequence includes absent thymus, hypocalcemia, and immune deficiency with characteristic facial features Cayler syndrome, also known as asymmetric crying face syndrome, with unusual "crying" mouth and face asymmetry with movement, as well as heart defects Nursing Interventions Vascular anomalies and heart defects can be noted in the newborn nursery as murmurs, feeding difficulties, color change, and stridor or breathing difficulty related to vascular rings. Seizures can occur related to hypocalcemia. Aspiration pneumonias may occur in relation to immune dysfunction and cleft palate. Hypotonia can lead to breathing problems. Low gut motility is also seen with constipation. Immune disorders can lead to chronic upper and lower respiratory infections. Sensorineural hearing loss is present in up to 15% of cases Caregiver Education Provide education on prevention of constipation. Provide education on prevention of chronic respiratory infections. Promote good hand hygiene.

Trisomy 18 (Edward's Syndrome)

Characterized by prenatal growth deficiency, craniofacial features, characteristic hand gestures with overriding fingers, nail hypoplasia, and short sternum. Internal anomalies and severe heart defects are common.

Imperforate Hymen

Congenital malformation May be seen at birth with white or mucoid material detained behind the area, but will reabsorb if missed More often presents as a bluish bulge in a teen with reports of amenorrhea Can be associated with chronic pain in abdomen or back from retained blood within the vagina Nursing Interventions Provide anticipatory guidance for the surgical repair Pain management Reassure teen girl if body image issues are present

The father of a 4-month-old male has brought his son to the clinic for a well-child exam. It is determined that the infant has cryptorchidism. The father asks the nurse for more information. How should the nurse respond?

Cryptorchidism is a congenital condition in which the testis remains in the inguinal canal or higher up in the groin."

Angelman Syndrome

Deletion on maternal chromosome 15 Characteristic features: Developmental delay Intellectual disabilities Severe speech and language impairment Problems with movement, coordination, and balance Happy, laughing demeanor Hand-flapping behaviors Hyperactivity with short attention span Short sleep cycles Epilepsy Scoliosis is common

A nurse is performing an assessment on a child after the repair of an incarcerated hernia. Which of the nurse's assessment data requires further evaluation?

Difficulty urinating

A female infant was born at 34 weeks and diagnosed with Turner syndrome after genetic testing. What is the priority nursing intervention for this infant?

Monitor feedings and teach parents techniques to improve suck and coordination.

A toddler was brought in to the emergency department after having a seizure. The nurse notes a port-wine stain birthmark over the right eyelid and forehead. What is the priority nursing intervention?

Prepare for an EEG due to seizure activity.

Williams Syndrome

Result of a microdeletion in the long arm of chromosome 7 Assessment Characteristic pattern of dysmorphic facial features: Broad forehead Bitemporal narrowing Low nasal root Periorbital fullness Stellate/lacy iris pattern Bulbous nasal tip Strabismus (crossed or wandering eyes) Long philtrum, full lips, wide mouth Full cheeks, small jaw Prominent earlobes Malocclusion of the teeth and a long neck in older children Developmental delay IQ scores on standard tests range from severe intellectual delay to low normal Highly verbal and overly sociable, "cocktail personality" Connective tissue abnormalities, including cardiovascular disease Hoarse and deep voice, hernias, soft and loose skin, joint laxity or limitation Supravalvular aortic stenosis

Turner Syndrome

Result of chromosomal loss of entire X chromosome Affects only girls Often webbed, thick, short neck or nuchal folds Short stature Broad "shieldlike" chest with wide-spaced nipples Nonfunctional ovaries Common to have thyroid dysfunction Common to find heart defects Obstruction of the left side of the heart Coarctation or narrowing of the aorta Most affected girls have normal intelligence, but many have visual-perceptual impairments that predispose them to nonverbal learning disabilities. Endocrine disorders result in short stature that can be improved with growth hormone injections. Absence of a single kidney (renal agenesis), horseshoe kidney, duplication of the collecting system, and aberrant renal arteries can occur. Approximately one-fifth to one-third of affected girls are identified at birth because of the presence of lymphedema, a notable swelling or puffiness of the hands and feet

Prader-Willi Syndrome

Result of hypothalamic/pituitary gland dysfunction when the gland itself is structurally normal Infants born with hypotonia often have feeding difficulty and display early failure to thrive Rapid onset of weight gain and large appetite presenting between 1 and 6 years of age (hyperphagia) May consume nonfood items Characteristic facial features: Almond-shaped eyes Narrow nasal bridge Down-turned mouth Thin upper lip Small genitals (hypoplasia) and pubertal deficiency Developmental delay and intellectual disabilities: IQ median range is 60 to low 70s May have mild intellectual delay within normal limits Behavioral profile: Stubbornness Can be manipulative Obsessive-compulsive qualities Great difficulties without routines Physical traits: Hypopigmentation, fair hair and skin compared with family members (Schiemann, 2017) Small hands and feet for height, tapered fingers Overall short stature, genu varum (knock-knees; see Chapter 20) Near-sighted (myopia) and cross-eyed Thick, viscous saliva Speech articulation defects Skin picking High pain threshold Temperature-control problems Scoliosis and kyphosis Osteoporosis

Trisomy 21 (Down Syndrome)

Small head (microcephaly) Flattened, broad head with flat posterior areas Underdeveloped, flattened middle of face (midface hypoplasia) Almond-shaped, up-slanting eyes, with redundant tissue along inside Prominent epicanthal folds, with small, downturned mouth Small oral opening with protruding tongue Small, low-set ears that may be cupped Chest may be broad, with heart murmurs related to defects Short hands that may have a single crease ( Congenital heart defects—very high incidence rate of about 44% Endocardial cushion effect (atrioventricular canal)—connection between the atria, upper chambers, and ventricle, lower chambers, most common Low tone; can be floppy, with breathing and feeding problems at birth

Avoid treatment by suturing superficial injuries with controlled bleeding, and instead

allow to heal by secondary intention if possible.

Tuberous Sclerosis

causes benign growths called "tubers" to form on different body organs, including the brain, eyes, kidneys, heart, skin, and lungs Skin lesions are called ash leaf lesions, which are patches of skin with less color or pigment than other skin. Mild skin abnormalities Lung tumors Heart tumors Tumors in the retina or along the optic nerve Kidney failure Seizures Intellectual disability

Charcot-Marie-Tooth Disease

inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign is generally a high-arched foot or gait disturbances. Symptoms usually manifest in late childhood or adolescence and usually begin with foot drop, in which the child cannot dorsiflex the foot. Some children experience development of hammer toes, where the toes remain curled. Later wasting of the lower leg gives the appearance of an inverted champagne bottle or a stork's leg. The leg exhibits hypertrophy of the proximal muscles. The peroneal muscles show marked atrophy. The distal portion of the extremities is thin due to the atrophied muscles. As the condition progresses, other weaknesses can occur in the pelvis and trunk

Trisomy 13 (Patau Syndrome)

is the least common and most severe of the viable autosomal trisomies. Average survival is fewer than 3 days.

Bacterial Vaginosis

is the most common cause of vaginal discharge in postmenarchal adolescents and women of childbearing age. The absence of inflammation is the basis for the term "vaginosis" rather than "vaginitis" Of affected women, 50% to 75% may have minimal symptoms, including fishy-smelling, thin, whitish-gray discharge . BV results not from one organism, but from a complex change in normal vaginal organisms and increase in other organisms associated with HIV acquisition, as well as increased risk for preterm labor in pregnant women.

Bleeding control is key with

labial or vulvar tears.

Common causes of vulvovaginitis in the pediatric population are

pinworm, vulvar ulcers, and imperforate hymen.

a walnut-shaped organ that lies beneath the bladder and surrounds the urethra. It produces secretions that maintain the vitality of sperm

prostate gland

Sturge-Weber Syndrome

rare condition caused by a spontaneous genetic mutation in the GNAC gene that affects the skin and the brain. This mutation cannot be transmitted from parent to child The symptoms vary widely, and some patients are undiagnosed for many years. The most common symptom is a skin lesion called a port-wine stain that is present at birth This is so named for its distinctive purple-red color that gives the appearance of "spilled wine"; it usually covers at least one eyelid and a portion of the forehead. Blood vessel growths called angiomas can occur on the brain. These lesions can cause seizures, usually occurring before the first birthday. The seizures tend to worsen with age and may be convulsions on the opposite side of the body from the skin discoloration. These angiomas may or may not be surgically repairable, depending on their size and location. Glaucoma is also common, usually in the eye affected by the port-wine stain. The eye may sometimes become enlarged.

Fetal Alcohol Spectrum Disorder

typical facial features at birth: Flat midface Thin upper lip Small chin (micrognathia) Short, upturned nose Short palpebral fissures Prominent epicanthal fold at inner portion of eyes Growth deficiency, starting at infancy and lasting throughout life Brain anomalies/defects can include abnormalities of the corpus callosum, cerebellum, and frank microcephaly. Sensory, motor, and regulatory behaviors are also affected at the cellular level. Communication and language can be affected. Organ damage, including congenital heart defects, can occur.


Set pelajaran terkait

Saylor Academy: Intro to Financial Accounting

View Set

MEGGS History of Graphic Design chapter 9

View Set

Dialogue 1 - English French Anglais Français - Hi What's your name? - Bonjour Comment t'appelles-tu?

View Set

Physics - Chapter 1 :Physical Quantities, Units and Measurement

View Set

Corporal's Course Administration

View Set