Podcast
Questions and Answers
An Apgar score assesses an infant's condition using which criteria?
An Apgar score assesses an infant's condition using which criteria?
- Blood pressure, temperature, and oxygen saturation
- Weight, length, and head circumference
- Reflexes, motor skills, and cognitive abilities
- Heart rate, respiration, color, muscle tone, and response to stimuli (correct)
The parachute reflex, which appears around 9 months, disappears by 24 months.
The parachute reflex, which appears around 9 months, disappears by 24 months.
False (B)
What is the primary cause of Infant Respiratory Distress Syndrome (IRDS) in premature infants?
What is the primary cause of Infant Respiratory Distress Syndrome (IRDS) in premature infants?
Insufficient surfactant
The Moro reflex, also known as the ______ reflex, typically disappears by 3 months of age.
The Moro reflex, also known as the ______ reflex, typically disappears by 3 months of age.
Match the following reflexes with their typical disappearance timeframes:
Match the following reflexes with their typical disappearance timeframes:
Which of the following conditions is characterized by abnormal retinal vessel growth due to high oxygen exposure in premature infants?
Which of the following conditions is characterized by abnormal retinal vessel growth due to high oxygen exposure in premature infants?
The crawling reflex (symmetric tonic neck reflex) causes infants to extend arms and bend knees when the head/neck is flexed.
The crawling reflex (symmetric tonic neck reflex) causes infants to extend arms and bend knees when the head/neck is flexed.
What is a common treatment for Retinopathy of Prematurity (ROP)?
What is a common treatment for Retinopathy of Prematurity (ROP)?
Which of the following conditions involves the absence of ganglion cells in the intestines, leading to blockage?
Which of the following conditions involves the absence of ganglion cells in the intestines, leading to blockage?
Spina Bifida Occulta always requires immediate surgical intervention to correct the incomplete closure of the vertebrae.
Spina Bifida Occulta always requires immediate surgical intervention to correct the incomplete closure of the vertebrae.
What is the primary purpose of performing an umbilical cord blood analysis immediately after birth?
What is the primary purpose of performing an umbilical cord blood analysis immediately after birth?
A Coombs test is used to detect Rh antibodies in maternal blood and diagnose __________ __________ of the newborn.
A Coombs test is used to detect Rh antibodies in maternal blood and diagnose __________ __________ of the newborn.
Match the following conditions with their primary treatments or management strategies:
Match the following conditions with their primary treatments or management strategies:
Which of the following conditions is characterized by an excess of cerebrospinal fluid in the brain ventricles?
Which of the following conditions is characterized by an excess of cerebrospinal fluid in the brain ventricles?
Phimosis, a condition where the foreskin cannot be retracted, can only be treated with immediate circumcision.
Phimosis, a condition where the foreskin cannot be retracted, can only be treated with immediate circumcision.
What genetic defect causes Phenylketonuria (PKU)?
What genetic defect causes Phenylketonuria (PKU)?
In the Apgar scoring system, 'G' stands for __________, which refers to the baby's response to stimuli.
In the Apgar scoring system, 'G' stands for __________, which refers to the baby's response to stimuli.
What is the most common genetic cause of Duchenne Muscular Dystrophy?
What is the most common genetic cause of Duchenne Muscular Dystrophy?
Clubfoot (Talipes equinovarus) has a definitive, known single cause.
Clubfoot (Talipes equinovarus) has a definitive, known single cause.
What is a common treatment method to correct Clubfoot (Talipes equinovarus)?
What is a common treatment method to correct Clubfoot (Talipes equinovarus)?
__________ is a genetic condition in males where there is an extra X chromosome (XXY).
__________ is a genetic condition in males where there is an extra X chromosome (XXY).
What is the primary cause of metabolic acidosis in newborns?
What is the primary cause of metabolic acidosis in newborns?
Why are newborns tested for certain conditions even if symptoms are not immediately present?
Why are newborns tested for certain conditions even if symptoms are not immediately present?
The presence of the Moro reflex beyond three months of age is considered a normal developmental milestone.
The presence of the Moro reflex beyond three months of age is considered a normal developmental milestone.
What is the expected response in a newborn exhibiting the rooting reflex when their cheek is stroked?
What is the expected response in a newborn exhibiting the rooting reflex when their cheek is stroked?
The plantar grasp reflex, characterized by flexion of the toes, typically disappears by the age of ______.
The plantar grasp reflex, characterized by flexion of the toes, typically disappears by the age of ______.
Match each reflex with its corresponding description:
Match each reflex with its corresponding description:
Which of the following reflexes emerges later in infancy rather than being present at birth?
Which of the following reflexes emerges later in infancy rather than being present at birth?
A newborn is assessed using the Apgar score. What does the 'G' in the Apgar acronym stand for?
A newborn is assessed using the Apgar score. What does the 'G' in the Apgar acronym stand for?
The crawling reflex is characterized by asymmetrical movements of the limbs.
The crawling reflex is characterized by asymmetrical movements of the limbs.
The crawling reflex is present in newborns and disappears after the neonatal period.
The crawling reflex is present in newborns and disappears after the neonatal period.
Infant Respiratory Distress Syndrome (IRDS) is associated with a deficiency of which substance in the lungs?
Infant Respiratory Distress Syndrome (IRDS) is associated with a deficiency of which substance in the lungs?
Describe the expected response in an infant demonstrating the tonic neck reflex when the head is turned to one side.
Describe the expected response in an infant demonstrating the tonic neck reflex when the head is turned to one side.
The neck righting reflex appears between ______ months of age and should no longer be obtainable at 24 months of age.
The neck righting reflex appears between ______ months of age and should no longer be obtainable at 24 months of age.
Bronchopulmonary Dysplasia (BPD) is often a sequela of IRDS and mechanical ______.
Bronchopulmonary Dysplasia (BPD) is often a sequela of IRDS and mechanical ______.
What condition is characterized by abnormal blood vessel growth in the retinas of premature infants?
What condition is characterized by abnormal blood vessel growth in the retinas of premature infants?
What is the expected response of an infant demonstrating the parachute reaction (reflex)?
What is the expected response of an infant demonstrating the parachute reaction (reflex)?
Surgery for necrotizing enterocolitis (NEC) is indicated when peritonitis or perforation occurs.
Surgery for necrotizing enterocolitis (NEC) is indicated when peritonitis or perforation occurs.
The parachute reflex typically disappears by the age of 12 months.
The parachute reflex typically disappears by the age of 12 months.
Define the term 'perinatal mortality'.
Define the term 'perinatal mortality'.
Robinow syndrome is sometimes misdiagnosed as what condition related to growth?
Robinow syndrome is sometimes misdiagnosed as what condition related to growth?
An infant whose birth weight falls above the 90th percentile on intrauterine growth curve charts is classified as:
An infant whose birth weight falls above the 90th percentile on intrauterine growth curve charts is classified as:
Hypertrophic cardiomyopathy is characterized by:
Hypertrophic cardiomyopathy is characterized by:
Match the following reflexes with their descriptions:
Match the following reflexes with their descriptions:
Death of the fetus after 20 weeks of gestation and before delivery is termed ______.
Death of the fetus after 20 weeks of gestation and before delivery is termed ______.
Which of the following congenital heart defects is classified as acyanotic?
Which of the following congenital heart defects is classified as acyanotic?
Down Syndrome is also know as:
Down Syndrome is also know as:
Match the term to it's definition:
Match the term to it's definition:
A small ventricular septal defect (VSD) is always diagnosed immediately at birth due to the severity of symptoms.
A small ventricular septal defect (VSD) is always diagnosed immediately at birth due to the severity of symptoms.
Congenital cardiac ______ are defects can be associated with Down syndrome and may require surgical correction.
Congenital cardiac ______ are defects can be associated with Down syndrome and may require surgical correction.
What is one possible cause of cerebral palsy (CP)?
What is one possible cause of cerebral palsy (CP)?
Patent ductus arteriosus (PDA) is often accompanied by what other acyanotic congenital cardiac defect?
Patent ductus arteriosus (PDA) is often accompanied by what other acyanotic congenital cardiac defect?
Coarctation of the aorta can lead to left ventricular failure and subsequent __________ __________.
Coarctation of the aorta can lead to left ventricular failure and subsequent __________ __________.
Muscular dystrophy (MD) primarily affects females due to its X-linked genetic inheritance.
Muscular dystrophy (MD) primarily affects females due to its X-linked genetic inheritance.
Which type of spina bifida involves a meningeal sac protruding through the vertebral opening, containing cerebrospinal fluid (CSF)?
Which type of spina bifida involves a meningeal sac protruding through the vertebral opening, containing cerebrospinal fluid (CSF)?
Match each component with its presence in Tetralogy of Fallot:
Match each component with its presence in Tetralogy of Fallot:
In cases of hydrocephalus, CSF shunts are typically placed to drain excessive fluid into which two anatomical sites?
In cases of hydrocephalus, CSF shunts are typically placed to drain excessive fluid into which two anatomical sites?
What is the primary consequence of transposition of the great arteries?
What is the primary consequence of transposition of the great arteries?
In 'true' clubfoot, the foot can be easily manipulated into the correct anatomical position with manual pressure.
In 'true' clubfoot, the foot can be easily manipulated into the correct anatomical position with manual pressure.
Which of the following maneuvers are used at birth to diagnose developmental dysplasia of the hip (DDH)?
Which of the following maneuvers are used at birth to diagnose developmental dysplasia of the hip (DDH)?
What surgical treatment is typically performed to correct cryptorchidism?
What surgical treatment is typically performed to correct cryptorchidism?
The primary symptom of congenital pyloric stenosis is __________ __________.
The primary symptom of congenital pyloric stenosis is __________ __________.
What is the primary treatment for Hirschsprung disease?
What is the primary treatment for Hirschsprung disease?
The sweat test, used to diagnose Cystic Fibrosis (CF), primarily assesses the sodium and chloride levels in the patient's sweat.
The sweat test, used to diagnose Cystic Fibrosis (CF), primarily assesses the sodium and chloride levels in the patient's sweat.
What dietary modification is essential for managing phenylketonuria (PKU)?
What dietary modification is essential for managing phenylketonuria (PKU)?
What is the genetic basis of Klinefelter syndrome in males?
What is the genetic basis of Klinefelter syndrome in males?
Turner syndrome in females is characterized by the absence of one __________ chromosome.
Turner syndrome in females is characterized by the absence of one __________ chromosome.
What does a low Apgar score typically indicate?
What does a low Apgar score typically indicate?
An Apgar score of 10 indicates that the baby needs immediate medical intervention.
An Apgar score of 10 indicates that the baby needs immediate medical intervention.
Define asphyxia in the context of umbilical cord analysis.
Define asphyxia in the context of umbilical cord analysis.
A pH of less than 7.20 in umbilical cord blood indicates a condition called ______.
A pH of less than 7.20 in umbilical cord blood indicates a condition called ______.
Match the following conditions with their respective characteristics:
Match the following conditions with their respective characteristics:
An infant is born with an incomplete closure of the vertebrae. Which condition is the infant most likely to be diagnosed with?
An infant is born with an incomplete closure of the vertebrae. Which condition is the infant most likely to be diagnosed with?
Surgical repair is typically not needed for meningocele.
Surgical repair is typically not needed for meningocele.
What is the primary treatment for congenital pyloric stenosis?
What is the primary treatment for congenital pyloric stenosis?
A child diagnosed with cystic fibrosis has a genetic mutation affecting the ______ gene.
A child diagnosed with cystic fibrosis has a genetic mutation affecting the ______ gene.
Match the following genetic conditions with their respective chromosomal abnormality:
Match the following genetic conditions with their respective chromosomal abnormality:
Which condition results from the absence of ganglion cells in the intestines, causing blockage?
Which condition results from the absence of ganglion cells in the intestines, causing blockage?
In phenylketonuria (PKU), the body is unable to metabolize tyrosine.
In phenylketonuria (PKU), the body is unable to metabolize tyrosine.
Briefly describe the genetic cause of Duchenne Muscular Dystrophy (DMD).
Briefly describe the genetic cause of Duchenne Muscular Dystrophy (DMD).
Excess cerebrospinal fluid in the brain ventricles is characteristic of a condition called ______.
Excess cerebrospinal fluid in the brain ventricles is characteristic of a condition called ______.
Which newborn condition is often treated with a Pavlik harness?
Which newborn condition is often treated with a Pavlik harness?
Flashcards
Apgar Score
Apgar Score
Evaluates newborns at 1 & 5 minutes after birth, scoring heart rate, respiration, muscle tone, reflexes, and color.
Moro Reflex (Startle reflex)
Moro Reflex (Startle reflex)
Sudden extension and abduction of extremities in response to a loud noise/jarring, followed by flexion and adduction.
Dance Reflex (Stepping reflex)
Dance Reflex (Stepping reflex)
Legs flex and extend in a walking motion when held upright and tilted forward.
Sucking Reflex
Sucking Reflex
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Rooting Reflex
Rooting Reflex
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Prematurity
Prematurity
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Infant Respiratory Distress Syndrome (IRDS)
Infant Respiratory Distress Syndrome (IRDS)
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Retinopathy of Prematurity (ROP)
Retinopathy of Prematurity (ROP)
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Cystic Fibrosis (CF)
Cystic Fibrosis (CF)
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Phenylketonuria (PKU)
Phenylketonuria (PKU)
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Klinefelter Syndrome
Klinefelter Syndrome
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Turner Syndrome
Turner Syndrome
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Umbilical Cord Analysis
Umbilical Cord Analysis
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Acidosis
Acidosis
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Asphyxia
Asphyxia
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Hypercapnia
Hypercapnia
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Coombs Test
Coombs Test
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Neural Tube Defect
Neural Tube Defect
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Robinow Syndrome
Robinow Syndrome
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Phenylketonuria (PKU)
Phenylketonuria (PKU)
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Pyloric Stenosis
Pyloric Stenosis
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Down Syndrome
Down Syndrome
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Moro Reflex (Startle)
Moro Reflex (Startle)
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Dance (Stepping) Reflex
Dance (Stepping) Reflex
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Palmar Grasp Reflex
Palmar Grasp Reflex
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Plantar Grasp Reflex
Plantar Grasp Reflex
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Crossed Extension Reflex
Crossed Extension Reflex
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Crawling (Symmetric Tonic Neck) Reflex
Crawling (Symmetric Tonic Neck) Reflex
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Tonic Neck (Asymmetric Tonic Neck) Reflex
Tonic Neck (Asymmetric Tonic Neck) Reflex
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Neck Righting Reflex
Neck Righting Reflex
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Landau Reflex
Landau Reflex
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Parachute Reflex
Parachute Reflex
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Appropriate for Gestational Age (AGA)
Appropriate for Gestational Age (AGA)
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Fetal Death
Fetal Death
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Large for Gestational Age (LGA)
Large for Gestational Age (LGA)
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Small for Date (SFD) Infant
Small for Date (SFD) Infant
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Neonatal Reflexes
Neonatal Reflexes
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Bronchopulmonary Dysplasia (BPD)
Bronchopulmonary Dysplasia (BPD)
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Necrotizing Enterocolitis (NEC)
Necrotizing Enterocolitis (NEC)
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Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
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Cerebral Palsy (CP)
Cerebral Palsy (CP)
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Muscular Dystrophy (MD)
Muscular Dystrophy (MD)
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Spina Bifida
Spina Bifida
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Meningocele
Meningocele
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Hydrocephalus
Hydrocephalus
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Congenital Heart Disease (CHD)
Congenital Heart Disease (CHD)
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Ventricular Septal Defect (VSD)
Ventricular Septal Defect (VSD)
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Patent Ductus Arteriosus (PDA)
Patent Ductus Arteriosus (PDA)
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Coarctation of the Aorta
Coarctation of the Aorta
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Atrial Septal Defect (ASD)
Atrial Septal Defect (ASD)
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Tetralogy of Fallot
Tetralogy of Fallot
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Transposition of the Great Arteries
Transposition of the Great Arteries
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Clubfoot
Clubfoot
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Developmental Dysplasia of the Hip (DDH)
Developmental Dysplasia of the Hip (DDH)
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Cleft Lip/Palate
Cleft Lip/Palate
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Cryptorchidism
Cryptorchidism
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Wilms Tumor
Wilms Tumor
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Congenital Pyloric Stenosis
Congenital Pyloric Stenosis
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Study Notes
- The Apgar score measures an infant's condition at 1 and 5 minutes after birth.
- Heart rate, respiration, color, muscle tone, and response to stimuli are scored from 0-10.
- The acronym Apgar: "A" is for appearance (color), "P" is for pulse (heart rate), "G" is for grimace (response to stimuli), the second "A" is for activity (muscle tone) and the "R" is for respiration (respiration rate).
- Immediate intervention is required to babies with low Apgar scores.
- Umbilical cord blood analysis investigates acid-base status.
- Arterial blood gas measurements and maternal-fetal blood compatibility are carried out through umbilical cord blood analysis .
- Life-threatening disorders require immediate treatment like acidosis and asphyxia.
- Acidosis means an abnormal accumulation of acid indicated by a pH less than 7.20.
- Acidosis is caused by increased hydrogen ion concentration.
- Asphyxia is a condition of oxygen deficiency, also called hypoxia.
- Hypercapnia is the condition of increased carbon dioxide in the blood.
- The Coombs test detects Rh antibodies in maternal blood.
- The Coombs test helps diagnose hemolytic disease in newborns.
- The Coombs test determines blood type compatibility.
- Phenylketonuria (PKU) is an inborn error of metabolism.
- An enzyme deficiency prevents the change of phenylalanine into tyrosine.
- Untreated PKU can cause brain damage and mental development delay.
- Newborns are tested for PKU because symptoms may not appear until four months old.
- Treatment for PKU begins at birth with a protein-restrictive diet
- Many reflex patterns mediated by the brain stem and spinal cord are present at birth.
- Absence or persistence of reflexes may indicate central nervous system damage.
Reflexes
- The Moro reflex, also called the startle reflex, involves extremity extension/abduction and finger fanning followed by flexion/adduction.
- The Moro reflex typically disappears around three months.
- The Dance reflex, also called the stepping reflex, simulates walking when held erect and inclined forward.
- The Dance reflex disappears between three to six weeks old.
- The Sucking reflex occurs when anything touches the lips.
- The Sucking reflex disappears between four and seven months old.
- The Rooting reflex involves head turning and sucking when the cheek is touched.
- The Rooting reflex disappears between three and seven months old.
- The Palmar Grasp reflex is finger flexion caused by palm stimulation.
- The Palmar Grasp reflex disappears by six months old.
- The Plantar Grasp reflex involves toe flexion when the sole is stroked.
- The Plantar Grasp reflex disappears by six weeks old.
- The Crossed Extension reflex, present in the first two months, involves adduction and extension of one leg when the other is stimulated.
- The Crawling reflex, also called the symmetric tonic neck reflex, involves assuming a crawl position by extending arms and bending knees when the head and neck are extended.
- The Crawling reflex disappears with neurologic/muscular development.
- The Tonic Neck reflex, also called the asymmetric tonic neck reflex, appears at two months and disappears at five months.
- The Tonic Neck reflex involves extending the arm/leg on the side where the head turns and flexing the opposite side.
- The Neck Righting reflex appears between four and six months and should no longer be seen at 24 months.
- The Neck Righting reflex involves shoulders and trunk rotation in the direction of head turning, enabling rolling over from the supine to the prone position.
- The Landau reflex appears at three months and disappears at 24 months.
- The Landau reflex involves maintaining a convex arc with the head raised and legs flexed when held prone.
- The reflex is poor in those with floppy infant syndrome.
- The reflex is exaggerated in hypertonic and opisthotonic infants.
- The Parachute reaction or reflex appears at nine months and persists for life.
- The Parachute reflex involves extending arms, hands, and fingers in a protective movement when dropped.
Glossary of Terms
- Appropriate for Gestational Age (AGA): Infant with normal intrauterine growth at birth.
- Fetal Death: Death of the fetus after 20 weeks of gestation and before delivery.
- Intrauterine Growth Retardation/Restriction (IUGR): Infant with slower than expected intrauterine growth.
- Low Birth Weight (LBW): Infant with a birth weight less than 2500 grams.
- Large for Gestational Age (LGA): Infant with a birth weight above the 90th percentile.
- Neonatal Death: Death in the first 28 days of life.
- Perinatal Mortality: Number of fetal and early neonatal deaths per 1,000 total births.
- Small for Date (SFD): Infant with slowed intrauterine growth delivered at term or post-term.
Conditions and Diseases
- Prematurity: Birth before 37 weeks of gestation due to immature organ development.
- Treatment: supportive care such as NICU, ventilation, and temperature regulation.
- Infant Respiratory Distress Syndrome (IRDS): Insufficient surfactant causes difficulty breathing.
- Premature lungs lack surfactant causing IRDS.
- Treatment: Surfactant replacement therapy, oxygen, and mechanical ventilation.
- Bronchopulmonary Dysplasia: Chronic lung disease in premature infants.
- Prolonged mechanical ventilation and oxygen use causes Bronchopulmonary Dysplasia.
- Treatment: Oxygen therapy, medications (steroids, diuretics), and nutritional support.
- Retinopathy of Prematurity (ROP): Abnormal retinal vessel growth causing blindness.
- High oxygen exposure in premature infants causes ROP.
- Treatment: Laser therapy, anti-VEGF injections, or surgery.
- Necrotizing Enterocolitis: Inflammatory intestinal disease.
- Prematurity, bacterial infection, and formula feeding cause Necrotizing Enterocolitis.
- Treatment: Bowel rest, antibiotics, surgery for perforation or necrosis.
- Robinow Syndrome: Genetic disorder causing facial and skeletal abnormalities.
- Genetic mutation (autosomal dominant/recessive) causes Robinow Syndrome.
- Treatment: Supportive care, orthodontic, and orthopedic treatments.
- Hypertrophic Cardiomyopathy: Thickened heart muscle impairs function.
- Genetic mutation causes Hypertrophic Cardiomyopathy.
- Treatment: Medications, lifestyle adjustments, surgery, or implantable devices.
- Down Syndrome: Chromosomal disorder (trisomy 21) causing intellectual disability and physical traits.
- Trisomy 21 causes Down Syndrome.
- Treatment: Supportive therapies, surgery for heart defects, and educational interventions.
- Cerebral Palsy (CP): Group of disorders affecting movement and posture.
- Brain injury during or after birth causes Cerebral Palsy CP.
- Treatment: Physical therapy, medications (spasticity control), surgery, and assistive devices.
- Muscular Dystrophy (MD): Progressive muscle degeneration; Duchenne MD is most common.
- Genetic mutation in the dystrophin gene causes Muscular Dystrophy.
- Treatment: Physical therapy, corticosteroids, mobility aids, and experimental gene therapies
- Spina Bifida Occulta: Mildest form of spina bifida, with incomplete closure of the vertebrae.
- Neural tube defect causes Spina Bifida Occulta.
- Often requires no treatment; monitor for complications
- Meningocele: Sac-like protrusion of meninges through the spine.
- Neural tube defect causes meningocele.
- Treatment is surgical repair.
- Myelomeningocele: Severe form of spina bifida with spinal cord involvement.
- Neural tube defect causes Myelomeningocele.
- Treatment: Surgery, physiotherapy, and management of associated conditions (e.g., hydrocephalus).
- Hydrocephalus: Excess cerebrospinal fluid in the brain ventricles.
- Blocked CSF flow, overproduction, or poor absorption causes Hydrocephalus.
- Treatment: Shunting to drain fluid, medications, and treatment of the underlying cause.
- Anencephaly: Missing parts of the brain and skull.
- Neural tube defect causes Anencephaly.
- There is no cure for Anencephaly
- Treatment: Supportive care or palliative management.
- Clubfoot (Talipes equinovarus): Abnormal foot positioning, inward rotation.
- Unknown, possibly genetic/environmental causes of Clubfoot.
- Treatment: Casting, bracing, or surgery (Ponseti method).
- Developmental Dysplasia of the Hip (DDH): Hip joint instability or dislocation.
- Unknown, possibly genetic/environmental causes of Developmental Dysplasia of the Hip.
- Treatment: Pavlik harness, bracing, or surgery.
- Cleft Lip and Palate: Openings in the lip and/or roof of the mouth.
- Genetic and environmental factors cause Cleft Lip and Palate.
- Treatment: Surgical repair, speech therapy, and dental care.
- Cryptorchidism: Undescended testes.
- Unknown, possibly hormonal or anatomical causes of Cryptorchidism
- Treatment: Hormonal therapy and surgical orchiopexy.
- Wilms Tumor (Nephroblastoma): Kidney cancer in children.
- Genetic mutations cause Wilms Tumor.
- Treatment: Surgery, chemotherapy, and radiation therapy.
- Phimosis: Inability to retract foreskin over the glans.
- Natural adhesion or scarring cause phimosis.
- Treatment: Topical steroids, manual stretching, and Circumcision.
- Congenital Pyloric Stenosis: Hypertrophy of pyloric sphincter causes gastric obstruction.
- Unknown, possibly genetic predisposition causes Congenital Pyloric Stenosis.
- Treatment: Surgical pyloromyotomy.
- Hirschsprung Disease: Absence of ganglion cells in intestines causes blockage.
- Genetic mutation causes Hirschsprung Disease.
- Treatment: Surgical removal of the affected bowel.
- Cystic Fibrosis (CF): Genetic disorder causing thick mucus in lungs and digestive system.
- Mutations in the CFTR gene cause Cystic Fibrosis.
- Treatment: Chest physiotherapy, enzyme supplements, and CFTR modulators.
- Phenylketonuria (PKU): Metabolic disorder, cannot metabolize phenylalanine.
- Genetic enzyme deficiency causes Phenylketonuria.
- Treatment: Protein-restrictive diet and low-phenylalanine foods.
- Klinefelter Syndrome: Male genetic condition with an extra X chromosome (XXY).
- Extra X chromosome (nondisjunction) causes Klinefelter Syndrome.
- Treatment: Testosterone therapy, speech and occupational therapies, and educational support.
- Turner Syndrome: Female genetic condition missing one X chromosome.
- A Missing or incomplete X chromosome causes Turner Syndrome.
- Treatment: Growth hormone therapy, estrogen replacement, and supportive care.
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