Infantile Colic Overview
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Questions and Answers

What is one of the key features of infantile colic?

  • Difficulty in breathing
  • Persistent vomiting
  • Sudden weight loss
  • Inconsolable crying for 3 hours or more (correct)

In which period of life does infantile colic typically occur?

  • After six months
  • During teething
  • First week of life
  • Second or third week of life (correct)

Which factor is NOT attributed as a possible cause of infantile colic?

  • Gases from milk fermentation
  • Incorrect feeding techniques
  • Maternal diets with cow's milk
  • Consistent feeding routines (correct)

Which of the following is a recommended soothing technique for infants with colic?

<p>Taking a ride in a car (D)</p> Signup and view all the answers

What method is advised for feeding a bottle-fed baby to alleviate colic symptoms?

<p>Feeding in a vertical position (B)</p> Signup and view all the answers

What percentage of pediatric provider visits does infantile colic account for during the first few weeks of life?

<p>10% - 20% (A)</p> Signup and view all the answers

Which of the following is essential for diagnosing infantile colic?

<p>Physical examination and history (A)</p> Signup and view all the answers

Which of the following symptoms is NOT commonly observed in infants with colic?

<p>Excessive sleeping (D)</p> Signup and view all the answers

What is the primary etiology of gastric distension in infants?

<p>Overfeeding (A)</p> Signup and view all the answers

Which treatment is recommended for a child experiencing simple functional vomiting?

<p>Providing warm food (C)</p> Signup and view all the answers

Which of the following factors is NOT a common cause of constipation in infants?

<p>High activity levels (D)</p> Signup and view all the answers

What is a known treatment approach for infantile diarrhea?

<p>Using electrolyte-rich formulas (A)</p> Signup and view all the answers

Which of the following statements about cleft lip and palate is true?

<p>Cleft palate involves an opening into the nose. (D)</p> Signup and view all the answers

What is the recommended management for constipation in infants?

<p>Increasing water and fiber intake (A)</p> Signup and view all the answers

What consequence can result from untreated infantile diarrhea?

<p>Dehydration (C)</p> Signup and view all the answers

Which is a known factor contributing to infantile diarrhea?

<p>Bacterial infection (A)</p> Signup and view all the answers

What is a common symptom associated with cleft lip and palate?

<p>Difficulty latching during breastfeeding (A)</p> Signup and view all the answers

What is a significant goal of nonsurgical treatment for cleft lip and palate?

<p>Optimize growth and nutrition (C)</p> Signup and view all the answers

Which of the following is NOT a major nutrient involved in inborn errors of metabolism?

<p>Fiber (C)</p> Signup and view all the answers

What is a vital strategy in managing inborn errors of metabolism?

<p>Dietary reduction of substrates (A)</p> Signup and view all the answers

Why is early initiation of dietary therapy important in inborn errors of metabolism?

<p>To prevent the accumulation of toxic substrates (C)</p> Signup and view all the answers

What can frequent respiratory infections in infants with cleft lip and palate indicate?

<p>Possible aspiration due to swallowing difficulties (B)</p> Signup and view all the answers

In dietary management of inborn errors of metabolism, which of these is crucial for monitoring?

<p>Regular plasma amino acid measurements (D)</p> Signup and view all the answers

What effect might inadequate oral intake have on infants with cleft lip and palate?

<p>Increased susceptibility to infections (C)</p> Signup and view all the answers

What is the primary cause of phenylketonuria (PKU)?

<p>Deficiency of phenylalanine hydroxylase (B)</p> Signup and view all the answers

Which co-factor therapy approach is employed for inborn errors of metabolism?

<p>Pharmacological doses of vitamins (B)</p> Signup and view all the answers

What is the recommended time frame for diagnosing PKU in infants?

<p>As early as possible, preferably within two years (A)</p> Signup and view all the answers

What is the normal blood concentration range for phenylalanine?

<p>1 – 3 mg/dl (C)</p> Signup and view all the answers

How does a deficiency of phenylalanine hydroxylase affect the metabolism of phenylalanine?

<p>It allows phenylalanine to accumulate (C)</p> Signup and view all the answers

What is a consequence of untreated PKU?

<p>Severe learning disabilities (D)</p> Signup and view all the answers

What are hyperphenylalaninemias associated with?

<p>Deficiencies of specific enzymes (B)</p> Signup and view all the answers

Why is tyrosine important in relation to phenylalanine metabolism?

<p>It serves as a precursor for several neurotransmitters (D)</p> Signup and view all the answers

What indicates a positive result in the Dinitrophenyl hydrazine test (DNPH) for PKU?

<p>Bright yellow color (A)</p> Signup and view all the answers

What is the normal blood phenylalanine (Phe) concentration range for detecting PKU?

<p>1 – 3 mg/dl (D)</p> Signup and view all the answers

Which symptom is NOT commonly associated with Phenylketonuria (PKU)?

<p>Muscle atrophy (C)</p> Signup and view all the answers

What is the main dietary treatment for individuals with PKU?

<p>Restriction of phenylalanine and supplementation with tyrosine (A)</p> Signup and view all the answers

What may indicate a need to change the diet in a child with PKU?

<p>Blood Phe concentration above 6 mg/dl (C)</p> Signup and view all the answers

What is the primary source of protein in the formula for children with PKU?

<p>L-amino acids with phenylalanine omitted (D)</p> Signup and view all the answers

Which of the following is a characteristic odor associated with PKU?

<p>Musty odor (B)</p> Signup and view all the answers

What kind of monitoring is essential for children diagnosed with PKU?

<p>Monitoring blood phenylalanine concentration (B)</p> Signup and view all the answers

What genetic pattern is associated with Maple Syrup Disease (MSUD)?

<p>Autosomal recessive (A)</p> Signup and view all the answers

Which of the following symptoms is most characteristic of Maple Syrup Disease?

<p>Urine that smells like maple syrup (D)</p> Signup and view all the answers

What is the primary goal of Medical Nutrition Intervention (MNI) for patients with MSUD?

<p>To maintain plasma leucine concentrations of 100–200 μmol/L (D)</p> Signup and view all the answers

Which branched-chain amino acid (BCAA) is primarily problematic in MSUD?

<p>Leucine (A)</p> Signup and view all the answers

What potential complication could arise from Maple Syrup Disease if left untreated?

<p>Neurological damage (C)</p> Signup and view all the answers

Flashcards

Infantile Colic

A condition in infants characterized by inconsolable crying, irritability, and screaming for 3+ hours without a clear cause, typically occurring in the second or third week of life.

Symptoms of Colic

Crying, irritability, screaming, red face, abdominal tension, typically in the evening.

Colic's Possible Causes

Feeding issues (overfeeding, underfeeding, insufficient burping, formula changes), maternal cow's milk diet, milk fermentation gases.

Diagnosis of Colic

Established by ruling out other medical causes after a detailed history and physical examination.

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Colic Treatment

There are no universal guidelines, but recommendations include vertical feeding, frequent burping, and reducing swallowed air.

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Soothing Methods

Techniques like rides in a car, pacifiers, rocking, swings, massages, soft noise, reduced stimulation, baths, and swaddling.

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Simple Functional Vomiting

Spit-up or regurgitation that is common in the first few months of a baby's life.

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Pediatric Provider Visits

Infantile colic leads to a significant portion of pediatric provider visits (10-20%) in the first few weeks of a baby's life.

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Gastric Distension in Infants

Overfeeding, use of hot formula, lack of burping, and air swallowing during feeding can cause a baby's stomach to swell.

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Infantile Constipation Cause

Infantile constipation might be due to factors like diet (low fiber) or lack of activity. Psychological reasons can also play a role.

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Infantile Diarrhea

Infants may experience diarrhea, which involves loose stools, with possible dehydration and electrolyte loss.

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Infantile Diarrhea Treatment

Treatment for infantile diarrhea often includes antibiotics (if bacterial), electrolyte-rich formulas, and oral dehydration solutions to replenish fluids and minerals.

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Cleft Lip/Palate Etiology

Cleft lip and palate are birth defects caused by incomplete closure of the lip and/or roof of the mouth during development.

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Cleft Palate Definition

A cleft palate is an opening in the roof of the mouth, allowing communication between the mouth and nose.

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Infantile Constipation Treatment

Treating infantile constipation often involves increasing fluid and fiber intake in the diet, avoiding strict laxatives unless prescribed.

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Cleft Lip

An opening in the upper lip, potentially extending into the nose, on one or both sides, or in the middle.

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Cleft Lip and Palate

A combination of a cleft in the lip and the roof of the mouth (palate).

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Swallowing Difficulty (Cleft Lip/Palate)

Challenges with the act of swallowing, often resulting in food going into the lungs (aspiration).

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Dietary Management (IEM)

Adjusting the diet to manage inborn errors of metabolism (IEM) by reducing specific nutrients that may create harmful byproducts.

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Protein Metabolism Issues (IEM)

Problems with the body processing protein, including amino acids and organic acids.

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Carbohydrate Metabolism Issues (IEM)

Issues with how the body processes sugars (glucose, galactose, and fructose).

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Fat Metabolism Issues (IEM)

Disruptions in the body's processing of fats, including fatty acids and the electron transport chain.

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Surgical Treatment (Cleft Lip/Palate)

Surgical repair of the cleft lip and/or palate for improved appearance and function.

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Maple Syrup Urine Disease (MSUD)

A rare genetic disorder where the body can't break down certain amino acids, causing a build-up in the blood. The urine of affected individuals smells sweet, like maple syrup.

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What amino acids are affected by MSUD?

Leucine, isoleucine, and valine, which are called branched-chain amino acids (BCAAs).

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MSUD Symptoms

These include avoiding food, vomiting, lethargy, seizures, and urine that smells like maple syrup.

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Why is leucine problematic in MSUD?

Leucine metabolism is significantly more abnormal than that of the other two BCAAs, even though the exact reason is still unknown.

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MSUD Treatment Goal

To keep plasma leucine concentrations at 100-200 μmol/L in infants and children by managing their diet.

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Inborn Errors of Metabolism (IEM)

Genetic conditions where a specific enzyme is missing or defective, leading to a buildup of harmful substances in the body.

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Co-factor therapy

Using pharmacological doses of vitamins to activate non-functional enzymes in IEMs.

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Phenylketonuria (PKU)

A common IEM where the body can't break down the amino acid phenylalanine.

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Phenylalanine Hydroxylase (PAH)

The enzyme responsible for converting phenylalanine to tyrosine. In PKU, it's deficient or inactive.

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Hyperphenylalaninemia

Elevated levels of phenylalanine in the blood, a hallmark of PKU.

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Diagnosis of PKU

Performed early in life using a blood sample taken from the baby's heel.

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PKU Management

Involves dietary restrictions to limit phenylalanine intake.

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Tyrosine Replacement

Supplementing tyrosine, which is deficient in PKU due to the lack of PAH activity.

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What is PKU?

Phenylketonuria (PKU) is a rare inherited disorder that causes a buildup of phenylalanine in the blood. It's caused by a missing or defective enzyme needed to break down phenylalanine.

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PKU Test

A simple blood test from the heel of a baby is done shortly after birth to check for PKU. Normal levels are 1-3 mg/dL, while levels above 8 mg/dL indicate PKU. A urine test using dinitrophenylhydrazine (DNPH) can also be used.

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Phenylalanine (Phe) in PKU

Phenylalanine (Phe) is an amino acid that cannot be broken down properly in PKU. It builds up in the body, causing serious health problems.

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PKU Treatment

Treatment involves a special diet that restricts Phe intake. The goal is to keep blood Phe levels within the safe range, typically 2-6 mg/dL.

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Dietary Therapy for PKU

Dietary therapy involves a special formula/medical food that provides essential nutrients but lacks Phe. It includes L-amino acids, excluding Phe, plus carbohydrates and fats from sources like corn syrup solids, tapioca starch, sucrose, and oils.

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Monitoring PKU

Regular blood Phe levels monitoring is crucial for individuals with PKU, especially in children, to ensure proper treatment and prevent complications.

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Outcome of PKU Treatment

With proper dietary management, individuals with PKU can lead healthy and fulfilling lives. Long-term monitoring and adherence to the special diet are crucial for preventing lifelong health challenges.

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Study Notes

Infantile Colic

  • A condition that occurs in the second or third week of life.
  • Key features include inconsolable crying, irritability, and screaming lasting for 3+ hours with no apparent cause.
  • This condition accounts for 10%-20% of pediatric provider visits in the first few weeks of a baby's life.
  • Symptoms often occur in the evening, with red-faced appearances and abdominal tension.
  • Traditional soothing methods are often ineffective.
  • Diagnosis is made through history and physical examination after ruling out other causes.
  • Etiology is unknown but may be related to feeding techniques (overfeeding, underfeeding, insufficient burping, formula changes), maternal diet (especially cow's milk in breastfed infants), or gas from milk fermentation.
  • No universal treatment guidelines exist.
  • Healthcare providers may recommend a trial of feeding bottle-fed babies vertically, frequent burping, and using a bottle with a collapsible bag to reduce swallowed air.
  • Soothing techniques include rides in car/stroller, pacifiers, rocking, swings, abdominal massage, white noise, warm baths, and swaddling.

Vomiting (Simple Functional Vomiting)

  • Spitting up or regurgitation, common in the first few months.
  • Possible causes include gastric distension from overfeeding, giving a hot formula, or not burping the child.
  • Air swallowing during feeding or crying can also cause vomiting, especially in bottle-fed infants.
  • Infants should be given the formula without overfeeding.
  • Warm food and burping are recommended.

Constipation

  • Typically occurs at the end of the first year.
  • Possible causes include psychological reasons, diet (fiber-free or high in solid additives), or lack of physical activity.
  • Treatment involves sufficient fluids and enough fiber, alongside increased fruit and vegetable consumption.
  • Laxatives are not recommended unless prescribed by a physician.

Infantile Diarrhea

  • Loose, watery stools leading to dehydration, loss of body fluids and electrolytes, and mineral depletion.
  • Potential causes include bacterial infection, requiring treatment as it can be dangerous, or nutritional issues (e.g., too much fiber).
  • Treatment is using antibiotics, if bacterial, and electrolyte replacement solutions (oral rehydration solutions containing NaCl, KCl, acetate, lactate, and bicarbonate).
  • Other treatments may include use of certain gels or pectins to solidify feces, and a low-fiber diet.

Cleft Lip and Palate

  • A birth defect where the lip and/or the roof of the mouth does not properly form or close.
  • It's one of the most common birth defects.
  • Causes are unknown, possibly genetic and/or environmental.
  • Cleft palate involves an opening into the nose, while a cleft lip may extend into the nose and can be on one or both sides or in the middle.
  • Signs include swallowing difficulties, breastfeeding challenges, underweight, and frequent respiratory infections.
  • Treatment involves surgical repair for improved cosmetic and functional results — sometimes accompanied by nonsurgical approaches to optimize feeding, growth, and successful surgical outcomes.
  • Feeding and nutrition goals for children with cleft lips/palates include effective feeding methods, expected growth patterns, introduction of complementary foods, and maximizing healing.

Inborn Errors of Metabolism (IEM)

  • Genetic conditions affecting the metabolism of protein, carbohydrates, or fats.
  • Dietary management is crucial, starting as early as possible to prevent brain damage.
  • Strategies to manage IEM include dietary restrictions of certain substrates (e.g., amino acids in phenylketonuria) and replacement of essential nutrients when deficient.
  • In some IEMs, co-factor therapy with high doses of vitamins may be necessary to stimulate enzyme activity, or to enhance excretion of toxic metabolites.

Phenylketonuria (PKU)

  • The most common IEM.
  • A genetic defect prevents the conversion of phenylalanine to tyrosine.
  • This leads to phenylalanine accumulation in the blood and urine, causing potential issues for development.
  • Diagnosis involves newborn screening (blood sample).
  • Treatment is a strict, lifelong dietary management restricting phenylalanine and supplementing tyrosine.
  • Symptoms of mental retardation, behavioral issues, seizures, tremors, hyperactivity, stunted growth, skin rashes (eczema), and small head size (microcephaly) can appear.
  • There is a specific musty odor in the child's breath, skin, and urine.
  • A crucial part of the treatment is a medical formula or food to satisfy nutritional needs and restrict the phenylalanine-containing foods.
  • Maternal PKU requires strict blood level management during pregnancy to prevent fetal issues.

Maple Syrup Urine Disease (MSUD)

  • A rare inherited metabolic disease affecting branched-chain amino acid (BCAA) metabolism.
  • Untreated, it can lead to coma and death.
  • Diagnosis may manifest with lethargy, vomiting, poor feeding, and hypertonia in the first days to weeks of life, and a distinctive maple syrup odor in the urine and sweat.
  • Treatment focuses on maintaining appropriate blood amino acid levels (leucine) through dietary restrictions of BCAAs (leucine, isoleucine, and valine) and using a medical formula product.

Galactosemia

  • A genetic disorder in galactose metabolism.
  • It's characterized by the accumulation of galactose and its toxic by-products in blood and tissues.
  • Diagnosis is done using routine blood tests.
  • Infants can be diagnosed in the first weeks-months of life.
  • Symptoms can include galactosemia in the urine, mental retardation, liver damage/enlargement, cataracts, and hypoglycemia.
  • The treatment is to completely avoid all sources of galactose in infant's diet (breast milk, cow's milk and other dairy).

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