Phenylketonuria (PKU)

Phenylketonuria (PKU)

• PKU is an inherited metabolic disorder
• Newborns lack phenylalanine hydroxylase, leading to phenylalanine accumulation
• Testing must occur before discharge, ideally 48-72 hours post-birth, minimum 24 hours after birth
• It is an autosomal recessive trait
• Cognitive impairment and developmental delays can occur
• Growth failure and a musty odor in urine are associated findings

PKU Labs

• Newborns undergo blood spot analysis within 2 days for early detection
• Expected phenylalanine lab results: 0.5-1 mg/dL
• Guthrie test confirms diagnosis when blood spot analysis is positive (high phenylalanine/accumulation)
• Some states require a repeat newborn metabolic screen at 1-2 weeks

PKU Nursing Care

• Mothers who test positive must adhere to strict dietary guidelines from 3 months before conception and throughout pregnancy
• Initiate dietary restrictions ASAP or within 7-10 days after birth
• A formula low in phenylalanine should be given to newborns
• Intake should be 20-30 mg phenylalanine/kg/day
• Phenylalanine levels should be monitored aiming for less than 8 mg/dL
• Breastfeeding is acceptable in moderation
• Breastmilk contains phenylalanine
• Monitor newborns for PKU findings
• Provide parents with education and support
• Consult with a registered dietician
• Referrals to support groups should be provided
• Limit intake of meat, eggs, and milk
• Encourage intake of foods low in phenylalanine, such as potatoes, lettuce, peas, and bananas
• Sapropterin may be prescribed to decrease phenylalanine, given PO, with frequent monitoring of phenylalanine levels

Diabetic Ketoacidosis (DKA)

• DKA is indicated when glucose is greater than 330 mg/dL
• Diabetics may have too much acid, so the body uses fat for energy to create ketones
• DKA manifests with acetone/fruity breath, Kussmaul's respirations, and confusion

DKA Nursing Care

• DKA must be treated quickly
• Rapid isotonic fluids for dehydration (1.5x maintenance) are priority
• Monitor blood glucose, start regular insulin drip for hyperglycemia
• Once blood glucose approaches 250 mg/dL, add glucose to IV fluids and maintain a 120-240 mg/dL glucose level
• Administer regular insulin continuously via IV infusion at 0.1 unit/kg/hr
• Continue lab draws
• Check glucose every 15-20 minutes until levels lower to 120-150
• Assess blood glucose and ketone levels in urine
• Assess BUN, CBC, electrolytes, and ABG
• Monitor for hypokalemia
• Ensure child is voiding

Hypoglycemia

• Glucose less than 60 mg/dL, treat by eating candy, feeling cold and clammy
• Hunger and lightheadedness
• Shakiness
• Anxiety and irritability
• Pallor and cool skin
• Diaphoresis
• Normal or shallow respirations
• Tachycardia and palpitations
• Strange or unusual feelings
• Decreasing consciousness
• Confusion and difficulty thinking
• Change in emotional behavior
• Slurred speech
• Headache and blurred vision
• Seizures can lead to coma

Hyperglycemia

• Glucose greater than 250 mg/dL, high and dry presentation
• Polyuria early, then oliguria late
• Nausea, vomiting, and abdominal pain
• Warm, dry, flushed skin
• Poor turgor
• Dry mucous membranes
• Confusion
• Weakness and lethargy
• Weak pulse
• Diminished reflexes
• Rapid, deep respirations with acetone/fruity odor (Kussmaul respirations)
• Recurrent vaginal yeast infections indicate early type 2

Hypoglycemia Nursing Care

• Education regarding manifestations
• Check glucose levels
• Follow guidelines from provider/diabetes educator
• Treat with 10-15 g simple carbs (1 tbsp sugar)
• 4 oz orange juice, 8 oz milk, 2-3 glucose tablets, or 4 oz regular soft drink is appropriate
• For mild reactions, use milk or fruit juice
• Monitor blood glucose frequently
• Recheck glucose after 15 minutes, determine if more carbs are required
• Follow with complex carbs, like whole grains, legumes, fruits, nuts, and starchy veggies
• Administer glucagon SC or IM if a patient is unconscious
• Give simple carbs as soon as tolerated
• Watch for vomiting and aspiration

Hyperglycemia Nursing Care

• Education regarding manifestations
• Encourage oral fluid intake
• Administer prescribed insulin
• Test urine for ketones, report if high
• Consult the provider if manifestations persist or progress

Normal Glucose levels

• 8 hr fasting glucose under 100 mg/dL
• Random glucose under 140 mg/dL
• Oral glucose tolerance test under 140 mg/dL after 2 hrs
• HBA1C of 4-6%

Abnormal Glucose Levels: Diabetic

• 8 hr fasting glucose of 120+ mg/dL
• Random glucose of 200+ mg/dL
• Oral glucose tolerance test of 200+ mg/dL
• HBA1C is greater than 6.5%
• May indicate pre-diabetes if in-between healthy/diabetic levels

Growth Hormone Deficiency (Hypopituitarism)

• Diminished secretion of pituitary hormones (mainly GH)
• Present with short stature, proportional build, delayed epiphyseal closure, and increased insulin sensitivity

Growth Hormone Deficiency Labs/Tests

• GH stimulation
• Nothing to eat/drink and limited activity for 10-12 hours before
• Baseline blood sample collected between 0600-0800
• Administer medication that triggers GH release
• Collect blood samples every 15-30 min for 3 hours after medication administration
• Assess skeletal maturity by comparing epiphyseal centers to age-appropriate standards
• General skeletal survey is done in children under 3
• Older children should have radiographs (X-rays) of hands and wrists
• Skull-films can detect structural abnormalities

Growth Hormone Deficiency Nursing Care

• Administer somatropin daily 6x/week subcutaneously
• Administer by subcutaneous injection into the abdomen, thigh, buttock, or back of upper arm
• Use cautiously in children receiving insulin
• Rotate injection sites to prevent tissue atrophy
• Administer at bedtime to promote effectiveness of medication
• A child's height/weight is measured and marked on a growth chart at every visit to the provider
• Height of child is more affected than weight, bone age usually matches height age
• Assess and monitor effectiveness of GH replacement
• Prescribe hormone replacement (thyroid)
• Provide support to the child and family regarding psychosocial concerns (i.e. body image, depression) making sure there are no cognitive deficits or delays
• It is vital to maintain realistic expectations based on the child's age and capabilities

Cast Care

• Assess and monitor neurovascular status
• Elevate cast above heart level for 24-48 hours after application
• Apply ice for first 24 hours
• Turn every 2 hours
• Keep affected extremity supported
• Assess for increased warmth/hot spots
• Monitor for drainage
• Assess skin
• For plaster casts, use palm of hands to avoid denting
• Apply moleskin to prevent friction rub
• Cover areas to prevent soiling stool
• Assist with crutch fitting/usage
• Educate to not put anything in the cast
• If warm and funky smell, a sore is present
• Ensure no compartment syndrome occurs (5 P’s: pain, pallor, paresthesia, pulselessness, paralysis)

Talipes Equinovarus (Club Foot)

• Deformity of ankle and foot occurs through bone deformity, malpositioning, and soft tissue contracture

Club Foot Treatment

• Instruct to use thumb and massage/rotate ankle correctly 5x per day

Club Foot Casting

• Starts when the baby is 1-2 weeks old
• Series of 5-7 casts over weeks to months
• Weekly stretching of muscle in foot

Surgical Repair of Club Foot

• If there is no improvement by 3 months: joint and tendons get cut to restore bones to normal position
• Cast is put on for 2-3 months and then braces

Braces/Denis Browne Bare and Shoes

• Foot must be in its final correct potion
• Fitted with brace walled Denis Browne bar with special shoes
• Keep foot in alignment 23 hrs/day for 3 months and during the night/naps until 4 years old

Pavlik Harness for DDH

• Maintains harness placement
• Check straps every 1-2 weeks for adjustment
• Encourage holding
• Promote growth and development
• Keep white cotton t-shirt under Pavlik to prevent skin issues
• Skin checks
• Encourage caregivers to always keep the harness on except during baths
• Have caregivers do demonstrate application

Trendelenburg Sign

• Assess strength of hip abductor muscles, stand on one leg with the other leg flexed forward
• Positive if pelvis drops on the side opposite of the standing leg
• Seen when a child has developmental dysplasia of the hip

Osteomyelitis

• Infection within the bone stemming from a bacterial infection from an outside source (usually staph)
• Unwillingness to use the affected extremity
• Appearing ill and irritable
• Fever and tachycardia
• Edema and pain
• Site of infection is tender, and pain worsens with movement

Juvenile Idiopathic Arthritis

• Chronic autoimmune inflammatory disease that affects joints/tissue with unknown origin

Juvenile Idiopathic Arthritis Labs

• Elevated C-reactive protein due to inflammation
• Elevated WBCs due to inflammation
• Positive ANA (can be negative) stemming from autoantibodies
• Rheumatoid factor is negative

Juvenile Idiopathic Arthritis Nursing Care

• Warm packs/baths for painful joints
• ROM
• Physical therapy
• Relaxation techniques
• Pain medications
• Education about medications, use NSAIDs with food, monitor liver when taking DMARDs, reserve steroids for severe pain
• Well-balanced diet
• Educate parents on how exacerbations worsen the illness
• Maintain patience and allow self-care
• May develop uveitis, in which case give steroid eye drops

Scoliosis

• Lateral curvature of the spine and spinal rotation causing rib asymmetry

Post-Op Care for Scoliosis

• Monitor pain using pain tools, teach PCA as needed
• Neurovascular checks
• Log rolling
• Skin care (monitor), wound and drain care
• Cough and deep breath
• Monitor for infection
• Monitor bowel sounds
• Monitor labs and administer blood as prescribed
• ROM
• Encouraging age-appropriate activities and development

Scoliosis Braces

• Used for moderate scoliosis (25-45 degrees)
• The Boston brace is most common
• Corrects scoliosis by applying pressure
• Curves the spine and allows it to align
• Wilmington brace is custom-fitted based on patient cast
• Specific corrective forces are added based on the patient's spinal curve

Leukemia

• Cancer of the blood originating in the bone marrow

Leukemia Diagnostics

• Bone marrow aspiration Shows quantities of immature leukemic blast cells and protein
• CSF analysis via lumbar puncture Assesses if CNS is involved
• CBC: Anemia, thrombocytopenia, neutropenia, leukemic blasts
• Blood smear - immature WBCs

Leukemia Early Classic Symptoms

• Low-grade fever
• Pallor
• Increased bruising and petechiae
• Listlessness
• Enlarged liver, lymph nodes, joints
• Abdominal, leg, and joint pain
• Constipation
• Headache
• Vomiting and anorexia
• Unsteady gait

Leukemia Late Classic Symptoms

• Pain
• Hematuria
• Ulcerations in mouth
• Enlarged kidneys and testicles
• ICP manifestations

Leukemia Nursing Care

• Treatment depends on the age of the patient (common Vincristine and Doxorubicin)
• Chemo is done through a central line or port
• Corticosteroids decrease side effects
• Goal is to complete remission with less than 5% Blast cells present
• Intrathecal methotrexate prevents CNS complications
• Induction/remission therapy, intensification therapy, and maintenance therapy
• Control nausea and vomiting, give antiemetics before treatment
• Avoid strong odors and the child's favorite foods during chemo
• Suggest/assist in selecting fluids and meals
• Small frequent meals
• Give antiemetics as prescribed
• Bowel elimination should be watched
• Perform meticulous skin care
• Nutritious diet
• Find out what foods/drinks worsen the child's symptoms
• Monitor I&O and daily weight
• Take care of mucositis and dry mouth
• Use non-hydrogen peroxide soft swabs to clean mouth
• Lubricate the child's lips
• Give soft, non-acidic foods, pureed or liquid diet as needed
• Analgesics may also be needed
• Alopecia
• Discuss with child, maybe cut their hair short
• Disposable surgical cap
• Gentle shampoos, brush hair gently
• Avoid blow dryers and curling irons
• Suggest wearing a cotton hat or scarf

Wilm's Tumor

• Solid tumor of kidney or abdomen
• Abdominal mass is firm, nontender, unilateral
• NEVER PALPATE

Why Prednisone for Leukemia?

• Administered with chemo to destroys abnormal WBCs

Hodgkin's Disease

• Cancer in the lymph system or spleen

Hodgkin's Disease Tests

• Lymph node biopsy for diagnosis
• Look for Reed Sternberg cells (large cells with greater than 1 nucleus)

Hodgkin's Disease Signs and Symptoms

• Swollen lymph nodes
• Fever
• Drenching night sweats
• Weight loss
• Non-productive cough
• Abdominal pain

Osteosarcoma

• Malignant bone tumor
• Peaks at 15 years old
• Occurs in the long bones (shafts of long bones) in arms/legs
• Femur, tibia, humerus
• Tumor grows OUTSIDE of the bones

Ewing's Sarcoma

• Aggressive bone cancer
• Adolescents/young adults
• Begins as growth of cells IN the bones and soft tissue around the bones
• Pelvis, ribs, spine, long bones
• No amputation

Cerebral Palsy

• Non-progressive impairment of motor function
• Impaired motor control, coordination, and posture
• Abnormal perception and sensation
• Hearing, visual, speech abnormalities, seizures, and cognitive disabilities

Cerebral Palsy Medications

• Baclofen
• Centrally acting skeletal muscle relaxant decreases muscle spasm and severe spasticity
• Given by implanted pump, changed every 4-6 weeks
• Botulinum toxic A (Botox)
• IM to reduce spasticity
• Quadriceps are often injected, spasticity only in lower extremities
• Decreases muscle movement by inhibiting release of acetylcholine
• Diazepam
• Skeletal muscle relaxant to decrease spasm

Myelomeningocele (severe spina bifida)

• Spinal cord and its meninges do not close completely during fetal development

Myelomeningocele Signs and Symptoms

• Sac-like structure containing the spinal cord/CSF protruding from the back
• Decreased motor and sensory function
• Risk for bladder issues

Myelomeningocele Complications

• Skin ulcerations
• Increased risk of latex allergy
• Increased ICP
• Shunt malfunction
• Hydrocephalus
• Bladder issues- bladder dysfunction (spasms or flaccidity)
• Orthopedic issues: clubfoot, scoliosis, other malformations of legs/feet
• Bowel control, risk of constipation

Myelomeningocele Nursing Care

• If open at birth cover in sterile wet gauze -> surgery the same day
• Keep baby prone before surgery
• Observe for abnormalities/physical defects, spine, hair or dimples on back
• Apply moist, sterile dressing over sac, as needed
• Assess temp and infection, irritation, redness, swelling, drainage
• Administer medications
• Measure head circumference and help control bladder issues
• Intermittent catheterization - neurogenic bladder
• Monitor neuro signs
• No rectal temps
• Coordinate OT, PT, speech, and family care

Osteogenesis Imperfecta

• Multiple fractures
• Blue sclera

Traction

• Check weights and make sure hangers are free

Cerebral Palsy

• Enhance self-esteem
• Monitor developmental milestones
• Adequate fluid/nutrition intake
• Self-care
• Prevent injury

Diabetes Care

• Snack 30 mins before activity
• Prolonged activities: intake every 45-60 mins
• When sick, monitor glucose and ketone levels
• Take antidiabetic agents
• Call provider for glucose >240

Rapid-Acting Insulin

• Lispro
• Onset: 15-30 minutes
• Peak: 30 min-3 hrs
• Duration: 3-5 hrs

Short-Acting Insulin

• Regular
• Onset: 30 min-1 hr
• Peak: 1-5 hrs
• Duration: 6-10 hrs

Intermediate-Acting Insulin

• NPH
• Onset: 1-2 hrs
• Peak: 4-14 hrs
• Duration: 14-24 hrs

Long-Acting Insulin

• Glargine U-100
• Onset: 1-4 hrs
• Peak: None
• Duration: 24 hours

DKA

• Monitor potassium levels
• Make sure there is adequate urinary output before administering potassium