Metabolism and Metabolic Disorders

• Metabolism is the chemical reaction occurring via metabolic pathways, sustaining life through biochemical processes.

Importance of Substances

• Protein is imperative for growth, tissue healing, and organ function through gluconeogenesis.

• Lipids play a role in lipogenesis and acetyl-CoA production; without them, ketone bodies form, leading to toxicity.

• Carbs, stored as glycogen, are crucial for providing an immediate energy source for cellular functions.

• Hormone imbalances are caused by irregularities in fluid and electrolytes, growth, energy production, or consumption.

• Metabolic disorders are rare, affecting fewer than 1 in 6-60 thousand individuals.

Newborn Screening

• Screens for 26 metabolic disorders.
• Is required in most states.
• Most metabolic disorders are inherited by autosomal recessive genes.
• Diagnosis delays can lead to toxic effects and cellular damage.

Types of Metabolic Disorders

• Inborn errors of metabolism are present at birth.
• Early diagnosis and immediate treatment are essential.
• This includes education on diet modifications, drugs, and possible complications plus follow-up appointments.
• Examples of inborn errors of metabolism include phenylketonuria and galactosemia.
• Inherited defects of metabolism have a genetic predisposition, and may or may not be present at birth, example: familial diabetes insipidus.

Acquired Errors of Metabolism

• Caused by trauma, tumors, or autoimmune disorders, not during the neonatal period.
• Early treatment based on S/S.
• Example: type 1 diabetes, growth hormone deficiency.
• Symptoms of a metabolic disorder include poor sucking, lethargy, respiratory distress, hypotonia, GI distress (diarrhea, vomiting, dehydration, seizures).

Phenylketonuria (PKU)

• PKU is when the body cannot properly break down phenylalanine due to a deficiency of phenylalanine hydroxylase, responsible for converting phenylalanine into tyrosine.
• Accumulation of toxic metabolites called phenyl-ketones lead to brain tissue damage and cognitive impairment.
• First clinical sign is excessive vomiting, seizures, musty odor in breath, skin, or urine.
• Early identification and dietary removal of foods containing phenylalanine is necessary, including most meats, dairy, nuts, legumes, and starches like potatoes, corn, and bread .
• Avoid sugar-free or low-carb processed foods with aspartame.
• Diagnosed via newborn screening using a heel prick after protein feeding.
• Nursing care prioritizes family education because PKU is managed through diet alone.

Galactosemia

• The body is unable to properly process galactose due to a deficiency in an enzyme needed for galactose metabolism, leading to a buildup of toxic substances in the blood. Clinical manifestations include vomiting, diarrhea, jaundice, hypoglycemia, liver dysfunction, cataract formation, abnormal clotting, failure to thrive, and cognitive impairment.
• Treatment involves eliminating galactose and feeding infants soy-based formula.
• Liver and kidney function tests aid in early detection.

Metabolic Endocrine Gland Dysfunction

• Occurs when the endocrine system experiences a dysfunction.
• Disrupts the child's entire metabolism.

Gigantism

• Caused by over-secretion of growth hormone (GH).
• Leads to excessive linear bone growth in children.
• Treatment involves removing or shrinking the tumor, and may need medications.

Dwarfism

• Pituitary or the secretion of growth hormone
• Results in proportional height and weight, underdeveloped jaw, large forehead and delayed skeletal maturation and *Not to be confused with chromosomal dwarfism.
• Treatment includes biosynthetic GH (Somatropin) or removing/shrinking the tumor with routes to mix, a multi-dose pen, SQ injection pushing 1 mL.
• Most effective when given at night. Rotate sites, watch volume

Potential AEs

• Headache, quick weight gain, knee/hip point

Type 1 Diabetes Mellitus

• Is a glucose transport disorder.

• Insulin is unable to transport glucose because the body doesn't produce enough insulin or the cell membranes have fewer receptors.

• It is an autoimmune-generated destruction of the beta cells of the pancreas, causing inadequate production of insulin

• A child with T1DM typically presents with weight loss, polyuria, polydipsia, nocturia, polyphagia, irritability, and dehydration.

• Requires a healthy lifestyle & medical supervision.

• If left untreated can progress into complications.

Medical Management Team

• Include a pediatric endocrinologist, child-life specialist, social worker, nutritionist, child psychologist, pharmacist, primary care provider, and diabetes educator.
• Educate families on the symptoms of hyperglycemia vs. hypoglycemia and how to administer medications.
• Start by stabilizing a child presenting with DKA.
• Assist children in managing diabetes to prevent later complications such as heart disease, blindness, stroke, kidney failure, and non-traumatic amputations, and DKA.
• Hypoglycemia is typically worse than hyperglycemia.

Hypoglycemia Symptoms

• Mild tremors, shakiness, headaches, palpitations, blurred vision, confusion, poor coordination, seizures, coma, and death.
• Considered a blood glucose level under 70 mg/dL.
• Fluctuating blood glucose can be managed with a snack.

Insulin

• Administering is via daily doses of rapid-acting insulin in combination with extended-release or long-acting insulin.
• Insulin pumps can deliver a constant rate of rapid-acting insulin over 24 hours.
• Injection sites include the back of the arms, tummy, and outer thighs.
• Encourage a healthy diet with 20% protein.
• Encourage them to have a balance diet so they don't have to have as much insulin
• Every 3-6 months, Hb A1C should be checked to reassess insulin administration

Diabetic Ketoacidosis

• Blood glucose values exceeding 330mg/dL. -Clinical manifestations include confusion, fruity smelling breath, ketones in the urine, and Kussmaul's breathing.
• Start IV hydration with isotonic solution (normal saline).
• Titrate insulin IV infusion frequently.
• Goal: decrease blood glucose 50mg/dL per hour to avoid too fast dropping which could cause brain swelling.
• Once blood glucose drops to 200-300 mg/dL, fluids switch to 5% glucose in normal saline (D5NS)

Diabetes Related Terms

• Acanthosis Nigricans presents as abnormal pigmentation along the neck of a child with persistent hyperglycemia and is associated with the risk of T2DM.

• Dawn Phenomenon occurs with an elevation of blood glucose between 5-6 am due to release of GH at night.

• Honeymoon Phase is a short period of time after diagnosis where beta cells can produce a small amount of insulin before they shut down but could create false hope for families.

• Kussmaul respirations are an abnormal pattern of breathing associated with DKA.

• Somogyi Effect a phenomenon of hyperglycemia in the morning in response to the child having hypoglycemia at night; fix with a bedtime snack with appropriate insulin administration

• Neurologic development begins at the 5th week of fetal development

• The CNS includes the brain and spinal cord.

• Fontanels allow for brain growth; the posterior closes by 2 months and the anterior by 12-18 months.

• CSF is produced in the ventricles and absorbed by the choroid plexus lining.

• PNS includes 31 pairs of spinal nerves, 12 cranial nerves, and both somatic and autonomic functions.

• Somatic regulates higher brain processing, reflexes, shivering, and all conscious thought.

• Autonomic is either parasympathetic (rest and digest) or sympathetic (fight or slight).

Head Circumference

• Measure each well check until 2 years
• Newborn/at birth, 34-35 cm
• Head circumference increases by 12 cm in the first year, which then slows to 1-3 cm per year between age 1-3 years.
• By age 3, the average head circumference is 48.5 cm
• Over 50% of brain growth occurs during the first year
• Measure from eyebrows around to the biggest part of the head

CSF

• Cerebrospinal fluid provides a protective cushion for mechanical injury, maintains ICP homeostasis within the CNS, distributes hormones and nutrients, and reduces the brains weight by providing buoyancy
• Congenital and acquired disorders can lead to dysregulation

ICP

• Monro-Kellie Doctrine dictates that the contents of the cranium must be in a state of constant volume, maintaining tissue, blood, and CSF for protection and homeostasis
• Mechanisms to regulate intracranial space through decreases production, increasing reabsorption of CSF, vasoconstricting blood vessels, and secreting aldosterone to reduce fluid in cells and tissues
• Causes of increased ICP include TBIs, hematoma in the brain, infection, falls, concussions, sports-related injuries, and non-accidental trauma
• Increased ICP can be caused by a rise in pressure of the ventricles where CSF is produced from the presence of a lesion such as a tumor, bleed, or clot that leads to decreased brain tissue perfusion and brain tissue anoxia.
• Normal ICP is 1.5-6 mmHg in infants, 3-7 mmHg in young children, and 10-15 mmHg in older children.

Assessment

• Clinical manifestations of altered LOC, separation of cranium sutures, non-pulsating and bulging fontanels, projectile vomiting, irritability, shrill, high-pitched cry can be found.
• In older children, vomiting, HA, leathery, weakness, diplopia, and seizures.
• Macewen sign is an obvious enlarged venous system on the top of the head
• Diagnostics include lumbar puncture, MRI, CT scan, and intracranial catheter.

Treatment

• Rapid intubation if ICP is very high.

• Invasive procedures to drain the fluid (craniectomy).

• Elevate the head (30 degrees, neutral position).

• Hyperventilate to reduce CO2.

• Administer osmotherapy, such as mannitol, pentobarbital, osmitrol 5%, and hypertonic saline, to pull fluids from the child's body.

• Surgical shunt.

• Maintain a calm environment and use the FLACC scale to not induce more pain or anxiety.

• Limit coughing and straining, and encourage a stool softener.

• Ventricular-Peritoneal Shunts (VP Shunt)

• Surgically implant a drainage system from the inner cavity of one of the larger brain ventricles down to the child's abdominal cavity which its re-absorbed.

• Pressure builds up, triggering the valve in the shunt to open, where once opens, the excess CSF flows into the abdominal cavity.

• Provides for gravity-induced drainage of excessive CSF

• Daily Nursing Care, measurement of head circumference, protection from a post-op infection, and early identification of shunt failure via the monitoring of increased ICP.

• Infection be signified by a biofilm forming on the surface of the implanted device.

• Coiled at first because the kid will grow. Will need to be replaced because they will grow a lot

• Shunts can be programmable and have anti-siphon devices to prevent over-drainage.

• Can be drained into the atrium of the heart

External Ventricular Drain (EVD)

• Shunt must be taken out because it could be displaced, clogged, or infected.
• Have this until they are fully healed when it drains into a collection container where we can measure it.
• If they stand up to fast, the CSF can drain out where if they sit down to fast, then the CSF can rush and keep until the infection is cleared.

Neurologic Assessment Tools

• Valve behind the ear measures the pressure and the volume

• Used if there is an infection with an internal shunt

• Neuro tools includes mental status exam as well the assessment of motor function, sensory function, cranial nerve function, and reflexes where vitals can be alerted.

• Assess head, face, and neck’s size, shape and symmetry

• Pediatric Glasgow Coma Scale tests the child's response to motor movement, verbal response, and eye opening, but doesnt require the child to speak.

• If score is 8 or less, the child will need rapid transport to a higher level of care and intubation while a score 7 indicates coma

• Primitive reflexes with newborns appear in the first several months of life but most vanish around 6-8 months such as: Babinski when the back of the foot is stroked, the infant dorsiflexes the big toe and then fans out the toes should disappear by 1 year

• Moro when the head falls back, the infant's hands will open, extend their arms, and then bring them back together should disappear by 6 months.

• Tonic neck/fencer’s stance if the infant's head turns to one side, the arm and leg on that side extend, disappearing around 6-7 months.

• Dancing place supportive hands around infant's chest, and then place feet just barely on a table, and the child will display small dancing movements

• Crawling when placed prone, the infant will make slight crawling movements.

• Startle when they hear a sudden sound, they will display the same signs as the Moro reflex

• Sucking assess cranial nerves V, IX, VII, IX, and XII should disappear by 1 year

• Deep tendon reflexes are present in older children and persist through the lifespan, but are not used on their own, following a 0-4 scale where 0 an absence and 4 is a clonus type with a level 2 reaction being a normal score with distraction being important when testing

• Motor Function Tests gait, motor strength tests done by getting them to play with someone or something, ability to assess, presence of ataxia and abilities on both sides of the body

• Level of Consciousness (LOC) Alert, Drowsiness, Confusion, Stupror, Obtunded, Coma

• Neurologic Diagnostic Exams Electroencephalogram (EEG) which measures electrical activity in the brain

• Lumbar puncture involves a sterile placement of a needle into the subarachnoid space of L3-4 or L4-5 to obtain specimens, assess pressure, and administer medications

• Need to be positioned correctly and should receive maximum protection from injury with correct position and support from a licensed health practitioner

• Head MRI scan of the brain to evaluate brain, CNS, bones, to look for masses, tumors, and lesions

• The electro radiation and radioactive chemical imaging is performed on lesions, tumors trauma

• Nerve conduction uses electrical waves to diagnose nerve movement

• Needle is placed into infant for ventricular tap and into excessive head movement

• Severe for the baby*

Abusive Head Trauma (Shaken Baby Syndrome)

• Causes a change of brain cells and accidents by severe shaking and impact

• 50% death and multifactorial external

• Eye tests can be done but its difficult

• History tests and neurological exam Diagnosis

• Retina ophthalmology finding of flames or swelling

• Subdural hematoma scan using imaging

• Breathing test and risk factors

• Mental health or high history or teens/drugs use

• No colic or crying for longer term

• Supportive care test to keep it monitored

• Preventative treatment and educate families

• Look older or younger than 4 year old age ranges

• Physical assessment can be very important to tell

• Meningitis is the inflammation of layers on connective tissue, such as bacteria, virus or infection.

• Precautions: droplet and contact use precaution, hand washing or mask

• Risk Factor: long term use of meds

• Bacterial infection will be done by culture results

• Can get done with more fluids being done

• Lab and cultures ( done meds) given tests more cultures

Clinical Manifestation

• Irritability, high fever, headache, leathery feeling and changes in eating patterns change in LOC, photosensitivity, seizures, vomiting

Antibiotics/ steroids

If it’s viral they can’t do anything

Brain Tumors- cancer

• Causes deficits behavior cognation function High Death risk factor

Tests show N/V headaches, visions problems Radiation tests Imaging - CT tests Surgical to go and reduce area

• Radiation if not needed
• chemo also if it’s viral

Nursing Care

• Assist with ambulators and protect patient by watching for side effects and giving needed pain medicine limit stimulus help maintain, placed on seizure orders Post-op level and degrees: 10-20 DO NOT increased ICP and keep low

Seizures- electrical activity from the brain with changes seizure happens in behavior and the way they are in awareness Epilepsy can be recurrent

• Most occurs from first year of life
• 2/3 outgrow it by adolececents
• Rapid heat pressure
• Space increase lesions and drugs
• Imaging of the Brain
• EEG done a day before or after
• 24-hour video recording Classifications of seizures are used Complex and partial or simple

Generalized:

• The test on whether they are paying attention or present in a normal convo
• Are they Atonic (lost muscle tone) ?
• Is there Jerk moves

Tonic

• Clondic jerks

• There is also grand mal

• Febrile has fever and no heat or seizure test

• The brain is in the head

• Tylenol uses and give fever reducers

• Meds help calm down

• Can have long short term effects :

• dizzy nauseas, increased hair growth

Make sure to give meds same day

• Have to document every factor and seizure

 Other Neurologic Disorders

-Muscle dystrophy and problems moving

• Wide feet and gowers sign

• Ducheene - effects mostly males Can’t cure but there support

• Cerbal Palsy

• Poor movements non progressive

• hypoxia and long movements

• Thin legs slow movement

• Poor movements -Feed poor to do the CP Causes influence Treatment and cure

Invasive and rom exercises Nueral test

• spine defect
• Meningitis can be opened on a sac Motor movements - decrease of the bladder

Headaches, vomiting dizziness Test used for chiaria Subdural- slow injury epidural- fast injury Concussions with high level testing and high test ranges Emotional anger problems with the head feeling slow.

• Mild short time
• Mod with lost of consciousness
• Sevee lost for long periods of time