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NN-Exam 3

Floppy infant, Newborn screening & Genetic diseases, Infections, Trauma, Drugs

What should be assessed during a Floppy Infant exam? Tone
What tone would a floppy infant have? Resistant to stretch, Hypotonia, Frog leg posture (w/wide hips)
Are Chromosome Disorders (ex: Prader-Willi) an example of Central or Peripheral Hypotonia? Central
Are Metabolic Diseases an example of Central or Peripheral Hypotonia? Central
Are Spinal Cord injuries an example of Central or Peripheral Hypotonia? Central
Is Cerebral Dysgenesis an example of Central or Peripheral Hypotonia? Central
Are HIEs an example of Central or Peripheral Hypotonia? Central
Spinal Muscular Atrophies, Central or Peripheral Hypotonia? Peripheral
Congenital Hypomyelinating Neuropathy, Central or Peripheral Hypotonia? Peripheral
Familial Dysautonomia, Central or Peripheral Hypotonia? Peripheral
Infantile Neuroaxonal Degeneration, Central or Peripheral hypotonia? Peripheral
Congenital Myasthenia Gravis, Central or Peripheral Hypotonia? Peripheral
Transient Myasthenia Gravis, Central or Peripheral Hypotonia? Peripheral
Infantile Botulism, Central or Peripheral Hypotonia? Peripheral
Muscular Dystrophies, Central or Peripheral Hypotonia? Peripheral
Metabolic Myopathies, Central or Peripheral Hypotonia? Peripheral
Central Core Disease/Fibre Myopathies, Central or Peripheral Hypotonia? Peripheral
Congenital Myopathies, Central or Peripheral Hypotonia? Peripheral
Chromosome Disorders, Metabolic Diseases, Spinal Cord Injuries, Cerebral Dysgenesis, and Hypoxic-Ischemic injuries are what kind of signs that could point towards Central hypotonia? CNS
What Motor Neuron disorder could be the reason for Peripheral hypotonia? Spinal Muscular Atrophies
What NMJ disorders could the reason for Peripheral hypotonia? Congenital & Transient Myasthenia Gravis, and Infantile Botulism
Congenital Hypomyelinating Neuropathy, Familial Dysautonomia , and Infantile Neuroaxonal Degeneration are ______ diseases and disorders that are factors of Peripheral Hypotonia? Nerve diseases and disorders
Muscular Dystrophies, Metabolic Myopathies, Central Core disease/fibre Myopathies, and Congenital Myopathies are examples of _______ diseases & disorders that could be the reason of Peripheral Hypotonia? Muscle diseases and disorders
ALS is a _______ disease that can cause what kind of Hypotonia? Motor Neuron Disease, Peripheral Hypotonia
How is Central or Peripheral hypotonia determined? ONLY through exam
What is Clonus? involuntary and rhythmic muscular contractions and relaxations (Hyperreflexia)
What are the 5 signs that point towards Central Hypotonia? Normal/Mild weakness Normal bulk Normal or Increases Reflexes Dysmorphisms Encephalopathy
What are the 5 signs that point towards Peripheral Hypotonia? Marked Weakness Decreased Bulk Decreased Reflexes No Dysmorphisms Awake & Alert
about what percent of the time would central hypotonia be due to brain diseases/disorders or malformations? 95
During a tone exam, if the baby does not respond what is the most likely localization of hypotonia? Central
During a tone exam, if the baby responds what is the most likely localization of hypotonia? Peripheral
Maternal narcotic use could lead to what kind of Hypotonia? Central
Hypothyroidism could lead to what kind of Hypotonia? Central
IEMs would point towards what kind of Hypotonia? Central
Where would hypotonia be localized in a baby with sepsis? Central
What is SMA ? Spinal Muscular Atrophy
How would someone get Hypermagnesemia? only way to get it is through increased Mg2+ consumption (supplements)
Where would hypotonia be localized in an infant with hypermagnesemia? Peripheral
An infant with curved joints (L-shape, 90+ degree bend) would likely have? Arthrogryposis Multiplex Congenita
What would be the likely cause of an infant with one curved joint (ankle)? Bicornuate Uterus
Contractures resulting form fetal immobility of any cause is the definition of what disease/condition? Arthrogryposis
What SMA type could Arthrogryposis be considered? Type 0
What Treatment options are there for someone with Arthrogryposis? PT, Passive enhancement, Surgery
Amyoplasia could cause what kind of Hypotonia? Peripheral
What is Amyoplasia? lack of muscle development
Surgery to treat Arthrogryposis entails... lengthening of tendon
What is a Bicornuate uterus? Uterus caves in like a heart (infants foot can get caught, causing curved joint)
What is Passive Enhancement with respect to Arthrogryposis treatment? assistive devices that enable muscle movement and exercise
What can help prevent muscle atrophy and improve joint function? PT
What are surgery options for someone with Arthrogryposis? Tendon transfer, soft tissue release, or skin flaps(?)
What is Polyhydramnios? too much water in the amniotic fluid due to baby not swallowing for wks or months
How and when is Polyhydramnios diagnosed? ultrasound and measuring belly during prenatal care
Where does amniotic fluid come from? pee (sterile in womb)
What would high Serum Creatine PK be the result of? muscle cells dying
What is useful info to know to determine central or peripheral hypotonia? Mothers medical history, Prenatal care (pregnancy rating), Delivery details, Family history
What details about a floppy infants delivery would be important? complications, prolonged trauma, Apgar scores
What details about a floppy infants Mother medical history would be important ? illness or fever
What details about a floppy infants pregnancy would be important? polyhydramnios, fetal movement, abnormal lie (like bicornuate uterus)
What details about a floppy infants family history would be important? delayed milestones or weakness (like using only one arm for actions/task and going out of the way to use the "strogner" arm)
Ankle Clonus, Microcephaly, Seizures, Not alert, and Dysmorphic are all signs/symptoms of.... floppy strong (central hypotonia)
no DTRs, Normal head size and shape, Alert (smiles), Tongue fasciculations are all signs/symptoms of.... floppy weak (peripheral hypotonia)
What test should be ordered/run to determine Floppy strong? Brain MRI, Karyotype, Metabolic Screen, and Gene Panel, Electrolytes, glucose, and Serum thyroid test
What test should be ordered/run to determine Floppy weak? Serum creatine PK, Electro Myogram (EMG) or Nerve Stimulation (NCS), and Gene panel
What is a sign of RSTS? Wide thumbs
What is RSTS? Rubinstein-Taybi syndrome, rare genetic condition that can lead to distinctive facial features, wide thumbs, and moderate-severe intellectual disability
Is SMA Autosomal Recessive or Dominant? Recessive
What defines SMA type 1? onset before 6 months, missed milestone (no sitting)
What defines SMA type 2? onset around 6-18 months, misses milestones (sitting but not walking)
What defines SMA type 3? onset during childhood after 12 months, can walk/move until onset
What defines SMA type 4? onset after 30+ years, can walk/move until onset
What are signs of SMA? Symmetric weakness, Tongue fasciculations, Absent Deep Tendon Reflex (DTR), normal intellectual capacity, atrophy of muscles
What gene mutation causes SMA? Survival Motor Neuron Protein (SMN) 1
What is SMN1? proteins that keeps neuron(s) alive and functioning
When must SMA treatment be administered? before the neuron dies
How is SMA treated? Nusinersen
How does Nusinersen work? induces alternative splicing of SMN2 mRNA which functionally converts it into SMN1 mRNA (allowing the expression of SMN1)
What is Myopathy? Primary genetic disease of muscle
What are signs and symptoms of Myopathy? Proximal weakness, Elevated serum creatine kinase, diagnosis via muscle biopsy or gene test
Infants with Myopathy clinically have? hypotonia, mild proximal weakness, facial weakness, nonprogressive weakness
What is Myasthenia Gravis body attacks own catecholamine receptors
What is described by the following; autoimmune disorder, transplacental transfer AChR antibodies with good response to AChE inhibitors Transient neonatal Myasthenia Gravis
What is described by the following; autoimmune disease, genetic disorders of NMJ, rarely respond to AChE inhibitors Congenital Myasthenia Gravis
If a pregnant mother has Myasthenia Gravis would her unborn child also have it? yes, once born the antibodies will be flushed out of the system and prognosis is good
What is the Tensilon Test? Tensilon drug used to diagnose Myasthenia Gravis, prevents breakdown ACh thus countering affects of Myasthenia Gravis (last less than a min)
When is the first newborn screening collected? within the first 24-48 hours
When is the second newborn screen collected? during the 1st and 2nd week of life
What does Texas mandate for all newborns, collected once within 24-48hours and again during the 1st-2nd week of life? Newborn screening
How often does the Texas Newborn Screening change? yearly
Why is there a single lab that test Newborn Screenings? QA
When was SMA added to the Newborn Screening? 2022
Why are Newborn screenings collected twice? false negatives and false positives, also dysfunctional protein digestion disorders could cause an increase in ammonia (unable to be determined in first days of life)
What are the downsides to Newborn clinical screening? False (-) & (+), takes too long to process, normal screening result while baby is clinically symptomatic
What does state of Texas screen for in newborn screenings? 1) Amino Acid Disorders 2) Fatty acid disorders 3) Organic acid disorders 4) Endocrine disorders 5) Hemoglobin disorders 6) Other disorders
What are the following disorders considered as in newborn screenings; Argininosuccinic Acidemia (ASA), Citrullinemia (CIT), Homocystinuria (HCY), Maple Syrup urine Disease (MSUD), Phenylketonuria (PKU) Amino acid disorders
The following are signs and symptoms of what newborn screening disorder group; Acute intoxication, Lethargy (failure to thrive), Coma, Seizures, Liver dysfunction, Cognitive/Dev delay Amino Acid disorders
What are the signs and symptoms of Amino acid disorders? Acute intoxication Lethargy (failure to thrive) Coma, Seizures Liver dysfunction Cognitive or Developmental Dysfunction
What are the signs and symptoms of fatty acid disorders? Recurrent hypoglycemia Failure to thrive Dev delay Persistent vomiting Cardiomyopathy Hypotonia Hepatomegaly
What is hepatomegaly? Enlarged liver
What are the signs and symptoms of Organic acid disorders? Emesis Dehydration Metabolic Acidosis Hypoglycemia Dystonia Dysphagia Encephalopathy
The following are part of what group of disorders screened for during newborn screening; CUD LCHAD MCAD TFP VCALD Fatty acid disorders
What is VCLAD? Very long-chain acyl-CoA dehydrogenase deficiency
What is TFP? Trifunctional Protein deficiency
What is MCAD? Medium chain acyl-CoA dehydrogenase deficiency
What is LCHAD? Long chain 3-hydroxylacyl-CoA dehydrogenase deficiency
What is CUD? Carnitine uptake Deficiency
The following are part of what group of disorders screened for during newborn screening; 3-MCC HMG BKT GA1 IVA Organic acid disorders
What is IVA? Isovaleric acidemia
What is GA1? Glutaric acidemia type 1
What is BKT? Beta-Ketothiolase deficiency
What is HMG? 3-hydroxy-3-methylglutaric aciduria
What is 3-MCC? 3-methylcrotonyl-CoA carboxylase deficiency
What is cystic fibrosis? lungs fill up with fluid, eventually fatal
What is the delivery mechanism for Gene replacement therapy? genetic material is transferred into target cell using viral vector which carries engineered genes
Why are human genes not suitable for gene replacement therapy? too long
What are the gene therapy strategies? in vivo (viral vectors) vs. ex vivo (CAR-T)
How long does ex vivo gene therapy last? life long, few side effects
What are viral vectors used for gene therapy vehicles? Retroviruses, Adenoviruses, and Adeno-associated viruses
What are non-viral vectors used for gene therapy vehicles? Liposomes and "Naked" DNA
Why are liposomes used as gene therapy vehicles? can be injected starlight into the blood steam and pass BBB
Out of Adeno, Retro, and Adeno-associated viruses, rank from most to least # of clinical trails? Adeno>Adeno-associated>Retro
What is Huntington's Chorea? Inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain (if cured, all descendants cured unless reintroduced)
As of Jan 2022, how many gene therapies are globally approved? 19
As of Jan 2022, how many RNA therapies are globally approved? 15
As of Jan 2022, how many Cell therapies are globally approved? 55
As of Jan 2022, how many in-vivo Adeno-associated virus gene therapies are globally approved? 3
Why are there more gene therapies in development than those that are approved? if one person dies during a clinical trial its gutted with a near 0 chance of starting up again cost uncertain of long-term effects limited sample sizes
What are 3 ways gene therapy occurs? 1) protein coding transgenes 2) Non-coding RNAs 3) tissue specific promoters
What is protein coding gene therapy used for? replacement and addition therapy
What is non-coding RNA gene therapy used for? knockout and gene editing
What is tissue-specific gene therapy used for? tissue specificity (general gene therapy?)
Other than nusinersen, what is another gene therapy for SMA? Zolgensma
How is meningitis diagnosed? CSF WBC count, Glucose levels, Proteins levels, Gram stain, and Culture
How can neonatal infections be obtained? In utero, Intrapartum, Postpartum
How is an in utero infection obtained? transplacentally or through ruptured membranes
What kind of infection can be obtained in utero? Viral
How is an intrapartum infection obtained? (from) birth canal during vaginal delivery
What kind of infection can be obtained intrapartum? Viral or bacterial
How is a postpartum infection obtained? external sources post birth
What type of infections can be obtained postpartum? viral and bacterial
What are the signs/symptoms that an infection was obtained before birth? Growth restriction Deafness Microcephaly
What non-specific signs do infections obtained during or after birth poor feeding, lethargy, fever, hypothermia, tachypnea, rash, diarrhea, etc
What type of infection(s) are fulminant? (sudden onset and severe) Bacterial
What type of infections are gradual and can become chronic? Viral
If a baby "just is not acting right", what do they most likely have? Bacterial infection
Immunoglobulin M (IgM) is your _____ line of defense? First
What immunoglobin antibody rises after reinfection long term? IgG
What stage is an infection if a baby has low IgG levels? beginning stages
What are the types of perinatal and neonatal infections? Bacterial, Viral, and Fungal
What is hepatosplenomegaly? simultaneous enlargement of the liver and spleen
What meningitis classification (usually) has a worse prognosis? Bacterial
What is Toxoplasmosis caused by? parasite (Toxoplasma gondii)
How is toxoplasmosis obtained? Ingestion of infected food or water from the environment cat feces
What is the classic toxoplasmosis triad? Chorioretinitis, Intracranial Calcifications, and Microcephaly
How is toxoplasmosis diagnosed during pregnancy? specific antibody detection in mother
What are toxoplasmosis antibodies? IgG and IgM
How is toxoplasmosis diagnosed prenatally? US and PCR of amniotic fluid
How is toxoplasmosis diagnosed Postnatal? Serological test
What is the most common intrauterine infection? CMV
What is CMV? Cytomegalovirus
What is necessary and mandatory for neonatal bacterial infection? early diagnosis and therapy
How can an infant get a neonatal bacterial infection? Hematogenous spread of bacteria or extension of infected skin
How/when would an infant get early onset sepsis? exposed during birth
How would an infant get late onset sepsis? umbilical artery catheter, hospital, or acquired pathogen
What is UAC? Umbilical Artery Catheter
An infant that gets sepsis after the 4th DOL Late onset sepsis
An infant that gets sepsis before the 4th DOL Early onset sepsis (usually sick by day 2 or 3)
What are the risk factors for neonatal sepsis? Maternal group B Strep cervix culture Premature rupture of membranes Prematurity Indwelling lines
Where do most infantile infections come from? birth canal
What is Chorioamnionitis? premature rupturing of membranes
how can weak contractions prolonging labor cause or lead to Chorioamnionitis? amniotic sac already ruptured and the baby is exposed
How can a meningitis diagnosis be made? Spinal tap (only way)
In a CSF analysis, what would be a WBC that indicates meningitis? >1000
In a CSF analysis, what would be a glucose level that indicates meningitis? <40
In a CSF analysis, what protein level would indicate bacterial meningitis? >250
Why are protein levels high in an infant with bacterial meningitis? excess antibodies
Why are glucose levels high in an infant with bacterial meningitis? GluT 1 failure
Why does bacterial meningitis cause hydrocephalus? antibodies block drainage
What is the definitive way to diagnosis bacterial meningitis? (+) CSF/blood culture with a PCR analysis
How long does it take for PCR results? 2-4 horus
What percent of infant survivors with group B strep meningitis end up normal? 50%
Why do neurons die in infants with group b strep meningitis even though it is not neurotoxic? cytokines and inflammatory response so intense it become harmful to body
What is the mortality rate of group B strep meningitis? 25%
What is the prognosis of an infant with seizures during an acute illness? poor
Why is a CMV infection life long? virus reactivates from time to time
How is CMV transmitted? infected bodily fluids; breast milk, saliva, blood, reproductive
What does primigravida mean? first baby
What is extramedullary hematopoiesis? red bumps/spots due to hematopoiesis occurring in places other than bone marrow
Why does extramedullary hematopoiesis occur? bone marrow deficiency
Why or how can an infant get cataracts? infection causes conformation change of protein in lens (ex: rubella)
What percent of all live births are affected by CMV? 0.5%
What is SNHL? Sensorineural Hearing Loss, progressive disease due to damage of hair cells in cochlea
How prevalent is SNHL with CMV infections? 35% of cases
A primary CMV infection is ______ asymptomatic
What percent of fetuses will become infected with a primary CMV infection? 40%
What percent of congenitally CMV infected babies with develop a sequelae? 10%
What is Valganciclovir? drug for congenitally infected neonates with symptomatic CMV
Is neonatal Herpes Simplex Virus more common is the USA or UK? USA
How can an infant get HSV? through birth canal or from someone with an oral lesion (cold sore) kissing the baby
What lope is most often affected in an infant with HSV? Temporal
If a mother has active genital herpes, how can we prevent the baby from contracting it? C-section (avoiding birth canal entirely)
Why is prognosis poor if the brain of a baby with HSV is affected? Encephalitis so severe liquefies brain (possibility)
What can/do intrauterine viral infections cause? Microcephaly (due to neurogenesis impairment)
What is the treatment for HSV? immediately start Acyclovir in any suspected cases
What is the subgaleal space? space between periosteum and scalp. Extends from orbital ridges to the nape of the neck and laterally to the ears.
Subgaleal Hemorrhage is associated with what type of delivery askance device/technique? Vacuum extraction
How much of the baby's blood volume can accumulate in the Subgaleal space? ~20%
Although a subgaleal hemorrhage is not a neurological problem, what can it lead to that is? HIE
What is Caput Succedaneum? accumulation of blood/fluid/serum between the periosteum and scalp that crosses suture lines
What is the most likely cause of indistinguishable white and grey matter in a scan? Edema (which is caused by HIE)
What is the most frequent cranial birth injury? Cephalohematoma
What is Cephalohematoma? slow subperiosteal bleed from disruption of superficial communicating veins under the periosteum
T/F: Blood crosses suture lines in a Cephalohematoma? False
What is the etiology of a benign Cephalohematoma? injury to periosteum during labor
What is the etiology of a serious Cephalohematoma? (suggests) defective fetal hemostasis
T/F: a cephalohematoma usually resolves by itself True
What skull facture are common newborns with cephalohematomas? linear skull fractures
In an infant with a linear skull fracture, why would no therapy be needed? infant is stable
How often do linear skull fractures cause intracranial complications? its rare
What fractures occur in obstetric trauma and extreme molding of fetal skull on maternal pelvis floor during labor? Depressed fractures
When would a depressed skull fracture impinge on the cortex and impair local blood supply? when the bone is displaced greater than 5mm
bone fragments in the brain parenchyma, increased ICP, neurologic deficits, or CSF under the galea aponeurotica after a skull fracture call for ______ surgical evaluation
What is a Ping-pong ball skull deformation? infants skull is dented like a ping pong ball
Ping-pong ball skull deformation calls for what treatment? (if necessary) elevate depression with suction or surgery
T/F: some ping-pong ball deformations can heal or resolve on their own True
Most linear fractures are __-______ and ________? non-depressed and asymptomatic
What bone is most often involved in a linear skull fracture? Parietal bone
What can a depressed parietal skull fracture cause? increased ICP and/or ICH
How long does it take for linear skull fractures to heal? 2-6 months
How many forceps assisted birth traumas occur per 10000 births? 45.4
What kind of ICH occurs often with Vacuum/Suction assisted delivery? Infratentorial Hemorrhage
What is the most common vein that is torn in an tentorial hemorrhage? Vein of Galen
What would point towards tentorial hemorrhage in a vacuum assisted delivery? Neurological abnormalities from time of birth
What is the prognosis for an infant with a tentorial hemorrhage? good or death, depending on the bleed
After you determine an infant might have a tentorial hemorrhage, what are the next steps? serial scans and monitoring
What is star gazing ? hyperextension of the fetal head while in breach position
What is breech position? fetus legs and arms crossed, butt first
How can a breeched fetus be altered for a viable delivery? rotate to head first, (pull out by a leg?), c-section
When do spinal cord injuries occur during delivery? fetal malposition (usually forced assisted delivery which leads to excess trauma)
What happens to the spinal cord when the fetus is mispositioned? longitudinal stretching and torsion
What is the mechanism of injury in most breech deliveries? traction (spinal cord)
In breech deliveries, where does traction usually occur? lower cervical or upper thoracic spinal cord
What is Horner's Syndrome? loss of sympathetic innervation to eye on one side of the body
What can an infant with a lower cervical injury have? Hypotonia, Horner's syndrome, and may lose diaphragmatic breathing
What kind of spinal cord lesions can paralyze legs and cause bladder and/or bowel dysfuntion? lower thoracic
C4 and C6 injury causes what kind of paralysis Tetraplegia
Injury to what spinal nerve would cause Tetraplegia? C4 or C6
What is the difference between a C4 and C6 spinal lesion? C6 paralysis is below clavicle/shoulder, C4 is below neck paralysis
Injury to what spinal nerve would cause Paraplegia? T6, below chest paralysis (except arms)
Below waist paraplegia could be due to injury of what spinal nerve? L1
How can level of spinal injury be localized? lack of pain response
What is shoulder dystocia? impaction of anterior fetal shoulder against the maternal pubic bone after delivery of fetal head (shoulder gets stuck)
How can vaginal delivery be assisted? Forceps and Vacuum extraction
What assistance device can cause facial palsy? Forceps
What is facial palsy? facial paralysis due to facial nerve injury
How can facial palsy be on the opposite side of forceps marks? caused by pressure from mothers pelvis (during prolonged delivery)
What is the prognosis for an infant with facial palsy? good, most fully recover
What is the incidence of facial paralysis? 5/1000 term births
What causes facial paralysis? compression where facial nerve exits stylomastoid foramen
in an infant with facial paralysis, what happens to the eye on the affected side? eye fails to close due to nerve injury
in an infant with facial paralysis, what happens to the mouth on the affected side when the infant cries? doesn't droop (mouth normally droops when infants cries)
What is Moebius Syndrome? congenital condition that results from underdevelopment of CN 6 (eye mvmnt), CN 7 (facial expressions), and sometimes CN responsible for speech, chewing, and swallowing
What is the normal position for preterm infants? extended arms and legs
what is the normal position for term infants? boxer position
What are the risk factors for Shoulder Dystocia? Big baby, Fetal macrosomia. Maternal diabetes, Maternal obesity, Post-term pregnancy
What are the types of spinal cord injuries? stretching, rupture, avulsion
What is spinal nerve Avulsion? spinal nerve root is ripped off spinal cord
What is a spinal nerve rupture? nerve is ripped before nerve root
What is spinal nerve stretching? nerve is stretched before nerve root
What is Brachial Plexopathy? all brachial plexus nerve roots between neck and shoulders are stretched, compressed, or torn during birth
What is the etiology of brachial plexopathy? shoulder dystocia
What is Erb's Palsy? arm paralysis caused by injury to upper brachial plexus (C5-C6 severing)
What is the prognosis for an infant with Erb's Palsy? 90+% make a complete recovery
What is the most likely diagnosis of the following; absent bicep reflex, spared triceps reflex, preserved hand and wrist movements, "waiters tip" hand. Erb's Palsy
How common is Erb's palsy? 90% (of all brachial plexus injuries?)
What is the normal hand position of a term infant? closed
What is the prognosis for an infant with Brachial plexopathy? poor, unable to recover without nerve repair
What usually occurs before lower brachial nerves are injured? breaking of clavicle
In an infant with brachial plexopathy, what most likely occurs to the spinal nerve root? Avulsion
What are the signs of Brachial Plexopathy? flaccid arm & hand, Horner's syndrome on affected side, open fist due to arm paralysis
How would a ripped nerve affect the prognosis of a spinal injury? decreases15-20%
Brachial plexus injury of C5 or C6 would affect Biceps
Brachial plexus injury lower than C5 would affect hand movements
What is neonatal phrenic nerve palsy? paralysis of diaphragm due to injury of C4 spinal nerve, can be unilateral or bilateral
How should unilateral phrenic nerve palsy be treated? it wont be (?)
How would a bilateral phrenic nerve palsy be treated? ventilator (or nerve transplant?)
What is Amniotic band syndrome/sequence? fetus becomes entangled in fibrous amniotic bands in the womb that result in restriction of blood flow that affects body development
How would an infant with Amniotic band syndrome be treated? indirect treatment= prothesis
What are the possible causes of Amniotic band syndrome? localized germ plasma failure, or early rupture of amnion
What is the difference between Deformation and Malformation? Malformation: doesn't dev properly, Deformation: body not allowed to dev properly
What is the etiology of birth defects? 65-75% idiopathic (we don't know/ multifactorial), 20-25% genetic, rest is dur to environment factors
How do minor anomalies in an infant affect major anomalies? increases likelihood of major anomaly occurring
What kind of anomalies can be seen in 14% of newborns? minor
Define minor anomaly? "no big deal", usually cosmetic malformations
What is clinodactyly? minor bone malformation that causes finger to curve at joint closest to joint (minor anomaly)
What is polydactyly? extra finger(s) (minor anomaly)
What is syndactyly? 2 or more fingers failure to separate, classified as simple or complex, usually runs in the family
What is the difference between simple and complex syndactyly? fusion of tissues=simple, fusion of bones=complex
What is a syndrome? group of anomalies that occur together due to some identifiable underlying cause
What is Dysplasia? abnormal organization of cells in tissue
What is the most common skeletal dysplasia? Achondroplasia Neurocutaneous Melanosis
What are people with Achondroplasia Neurocutaneous Melanosis at higher risk for? Melanoma
What is Achondroplasia Neurocutaneous Melanosis? congenital disorder characterized by the presence of raised hypermelanotic patches on the skin and melanocytic tumors in the leptomeninges of the central nervous system.
Why is Achondroplasia Neurocutaneous Melanosis skin thicker? more skin cells and melanin takes up more space within the skin cells
How can Achondroplasia Neurocutaneous Melanosis be treated? (surgery every x wks/mnths/yrs, until they die)
What is Achondroplasia? "dwarfism", congenital skeletal dysplasia due to GOF mutation in fibroblast growth factor receptor-3 gene
What are teratogens? substances that cause malformations in a developing embryo or fetus
When is the embryo most susceptible to teratogenic agents? during periods of rapid differentiation
When does structural teratogenesis occur during a pregnancy? 1st trimester
When would adverse neonatal events occur during a pregnancy? 3rd trimester
When would Neuro-behavioral teratogenesis occur? Perinatal (after birth)
How are substances determined to be teratogenic? 1) anecdotal data in humans 2) Data from animal studies
Why is it recommended to avoid all medications (if possible) during early pregnancy? b/c we don't have definitive data for most drugs so they may or may not be teratogenic
How is a class C drug defined by the FDA? no adequate human trials, evidence from animal studies suggest adverse effects on fetus, benefits may outweigh risk
How is a class A drug defined by the FDA? failed to show risk to fetus in human trials and safe to take during pregnancy
How is a class B drug defined by the FDA? no adequate human trials, evidence failed to show risk in animal studies, (no risk/benefits stated)
How is a class D drug defined by the FDA? Adequate human trials show evidence of adverse effect on fetus, benefits may outweigh risk
How is a class X drug defined by the FDA? Adequate human trials show evidence of adverse effect on fetus, Contraindicated in pregnancy.
What are other factors that can cause adverse effects on fetal development? Malnutrition, Exposure to violence, Mental illness, Infection, Premature labor, Lack of access to healthcare
What is Fetal Valproate Syndrome? rare condition, caused by exposure of fetus to valproic acid or sodium valproate during the first trimester
What is Valproic acid used to treat? Bipolar (mood stabilizer), and Epilepsy treatment
What is Craniosynostosis? premature closure of sutures of skull
What is atrial septal defect? hole in heart (failure of hole connecting ventricles to close)
What is Retinoic acid? (Accutane) used to treat acne, requires iPLEDGE contract to be signed and a (-) pregnancy test
If used during pregnancy, what can Retinoic acid cause? Craniofacial dysmorphisms
What percent of children who's mother took Accutane during the first trimester end up with major malformations? 35%
What percent of children who's mother took Accutane during the first trimester end up with mental retardation but no malformations? 25%
How does vitamin A affect neurodevelopment? inhibits growth of head structures and expression of anterior Hox genes, extent depends on concentration
How would Maternal Hyperglycemia affect a fetus? Congenital heart diseases, Renal/GI/CNS malformations, and Caudal regression
Like Fetal Alcohol Syndrome, why doesn't Maternal Hyperglycemia always affect the fetus? luck of draw, maybe it will maybe it wont. (why take the chance)
What is the multiple marker test? Noninvasive blood test to determine risk for down syndrome or spina bifida
What test are included in the multiple marker test? Maternal Serum alpha-fetoprotein (MSAFP), Unconjugated Estriol (uE3), Human chorionic gonadotropin (hCG)
What multiple marker test results indicate fetal spina bifida or down syndrome? low MSAFP, low uE3, high hCG
What are invasive diagnostic test used to look directly at fetal karyotype? Amniocentesis, Chronic Villus Sampling (CVS), Percutaneous Umbilical Blood Sampling (PUBS)
What is Amniocentesis? long needle used to take sample of amniotic fluid with US assist
What is the chance that the fetus face or an important body part is poked during an Amniocentesis? <1% (?)
What is the biggest risk of Amniocentesis? inducing premature labor
What is prenatal cfDNA? noninvasive prenatal testing, small fragments of fetal DNA circulates in maternal blood (sample is taken from that)
What are some reasons that black people are sicker and die earlier? poverty, quality of care, possibly education, Implicit Biases
What are implicit biases? Automatic and unconscious learned stereotypes & prejudices that are difficult to change
What are explicit biases? Conscious self-reported opinions that decline in incidence overtime
Define bias prejudice in favor or against one person, or group in a way that is usually considered unfair
What is system 1 thinking? Fast automatic pattern recognition
What is system 2 thinking? slow, requires concentration and is deliberated
How can a physicians implicit biases contribute to excess morbidity and morality among POC? prescribing pain med to a white patient but not a black patient with the same level of pain or prescribing outdated treatment for POC patients
Rank, least to most, the groups of new mothers (Black, White, Asian, Latino) who breastfeed for 6 months after birth? Asian, White, Latino, Black
What is one reason for the disparity in % of new mothers who breastfeed for at least 6 months among Latino, Black, Asian, and White mothers? Location (state), Education levels, Socioeconomic status, Access to healthcare, Quality healthcare, Etc...
What was one example of inequity among premature black babies covered in class? higher IVH risk/rates in segregated neighborhoods
What percent of pregnant people tested (+) for drugs? 17%
What is Laudanum? Tincture of opium
What drug was developed Nazi Germany as an opiate that doesn't cause a high? Methadone
When was Morphine widely used as a treatment in the US? Civil war
Poor people are _____x more likely to develop drug addiction than rich people? 3.5
What are drugs that have direct teratogenic effects during the first trimester of pregnancy? Embryonic
What type of drugs influence fetal growth or development in the 2nd or 3rd trimesters? Fetal
What king of drugs have adverse effects in the neonatal period, causing sedation, seizures, or withdrawal? Perinatal
Embryonic and Fetal drugs have _____ effects? Remote
What are examples of perinatal drugs that cause adverse effects like sedation, seizures, or withdrawal? BDZs or Opioids
What are examples of drugs that influence fetal growth/development in 2nd and 3rd trimesters? Alcohol, Barbiturates, THC
What are examples of drugs that have direct teratogenic effects during the 1st trimester? Cocaine and THC
What adverse effects does Nicotine have on a fetus? Hypoxia, Undernourishment, and Vasoconstriction of placental and umbilical cords
Why does nicotine have a broad mech of action? Affects brain development in various ways like altering metabolism and adversely affects on various NT systems
What is the most common cause of SGA births? Nicotine
What does SGA mean? Small for Gestational Age
Maternal smoking can cause spontaneous abortion due to.... Uterine bleeding, Placenta Previa, or Abruptio Placentae
What is Abruptio Placentae? occurs when placenta partly or completely separates from the inner wall of the uterus before delivery
What is Placenta Previa? occurs when placenta completely or partially covers the opening of the uterus
What is SIDS? Sudden Infant Death Syndrome
How much does one cigarette/day increase risk of SIDS? doubles risk
How does maternal smoking (nicotine) impair the arousal system? decreases 125I-epibatidine in 5 medullary sites
How does alcohol affect/interact with the placenta? readily crosses placenta and obstructs amino acid transport
How does the obstruction of AA transport in the placenta by alcohol affect the fetus? causes problems with protein synthesis (protein pathway) which causes issues with growth
What effects does alcohol have on fetal brain? decreases brain weight, abnormal neuron size and morphology, and can impair several NT systems
What long term effects can alcohol have on a fetus? range from morphologic and CNS malformations to small cognitive or behavioral deficits
What is Organogenesis? phase of embryonic development that starts at the end of gastrulation and continues until birth.
How are teratogens and time of pregnancy (trimester) related? The closer to birth the less severe adverse effects (usually) ex: early effects causing malformations rather than late effects resulting in ADD
What are common facial dysmorphisms of FAS? Thin upper lip, big ears, microcephaly, short nose bridge, smooth philtrum (cupid's bow), shorter width of eyes
What are the long terms effects of FAS? Cognitive and behavioral issues and facial dysmorphisms
What is one behavioral issue that is characteristic of FAS? Unable to remember, apply, or feel the need to follow rules
What are some behavioral issues associated with FAS? ADD/ADHD symptoms, emotional immaturity, unable to follow or apply rules, socially inept
What are some cognitive issues associated with FAS? Difficulty storing and retrieving information, wide range of intelligence, struggle with abstract concepts, difficulty generalizing knowledge and experiences
Agenesis of what brain structure is common in people with FAS? Corpus callosum (severity ranges from smaller to non existent)
Tetralogy of Fallot is developed during what trimester? 1st trimester, organogenesis problem
What trimester does organogenesis occur? 1st
How does cannabis affect endocannabinoid signals? hijacks to evoke molecular rearrangements which lead to erroneous wiring of neuronal networks
What is 2nd trimester Marijuana exposure associated with? lower intelligence
What is 1st trimester Marijuana exposure associated with? lower reading and composite scores( on WIA test in 14 yr olds?)
What is NAS? Neonatal Abstinence Syndrome (Neonatal Withdrawal)
How common is NAS in infants exposed to opiates, specifically heroin? 60-80%
When does NAS become noticeable in infants? 48-72 hours after birth
How does NAS effect neonate CNS? Hypertonia, Hyperreflexia, Irritability, Abnormal suck, poor feeding, and seizures
What percent of infants with NAS have seizures? 1-3%
How does NAS effect the GI tract? Diarrhea
What are the 4 main signs of NAS? Sneezing, Yawning, Sweating, and Crying (when not supposed to, ex: crying even after being fed)
T/F: Maternal drug use rate during labor per 1000 stays has increased steadily from 2000 to 2017? T (Opiate use increased 6.5x and substance use increased more than 2.5x)
What adverse affects does maternal opiate withdrawal have on the fetus? increases chance of seizures which can cause HIE which can start the neurotoxicity cascade & lead to Placental Abruption
What is the recommendation for a pregnant mothers who use opiates? avoid withdrawal during pregnancy, risk of adverse affects on fetus are greater than NAS treatment
What perinatal effects can opiate usage cause? sedation, respiratory depression (significant depression is rare), low birth weight, SGA, and increased incidence of prematurity
How is Excoriation related to NAS? Babies born with long fingernails scratch their face due to NAS (and can cause minor facial anomalies?)
What is Excoriation of the face characteristic of? NAS
How is NAS treated? infants with severe NAS are treated (with opiates) so they can sleep, feed, gain weight, and interact with caregivers
What is the developmental prognosis of infants with mothers who are addicted to heroin? Poor general processing of perception and cognition, Lower concentration, shorter short-term memory, uncontrollable temper, increased aggression and compulsivity, ADD/ADHD
What adverse effects does Methadone addiction have on infants? 90% have NAS, symptoms similar to heroin but more intense
When do signs of late NAS show up in infants addicted to methadone? 2-4 wks of age
How does late withdrawal affects methadone addicted infants? eat a lot but don't gain weight
What is the treatment for methadone addiction in infants? same as heroin but takes longer to complete
What is the amnion? Membrane that cover embryo after being formed
Would diaphragm paralysis due to unilateral phrenic palsy be ipsilateral or contralateral? ipsilateral
Your next patient is a term newborn who is referred for evaluation of profound weakness of her limbs as well as diffuse hypotonia. You should suspect Peripheral nerve disorder like SMA
You are asked to see a term newborn baby because she is floppy. On exam she can barely move her arms and legs. DTRs are absent. She cries weakly when you pinch her toe. Most likely, she has motor neuron disease like SMA
make diagnosis; 1 month old, SGA, normal pregnancy, progressive floppiness developed, frog legs, tongue fasciculations, absent DTRs, bell shaped chest wall spinal motor neuron disease (SMA)
In Type 2 SMA the infant is expected to never walk
Which test has the highest yield (most likely to reveal a diagnosis) in an infant with peripheral hypotonia? genetic screening
Seizures, Fever, Bulging fontanelle, Lethargy, Skin rash--Signs of bacterial meningitis include all these EXCEPT skin rash
The most common cause of neonatal bacterial meningitis, implicated in about 50% of cases, is group B streptococcus (GBS)
What are viral agents with activity against varicella and other herpes viruses? Acyclovir and Valacyclovir
Approximately 1% of all live born infants are infected with __ and shed virus at birth, making this the most common congenital viral infection. CMV
Which type of bleed in newborns is common but typically benign? subarachnoid
The most frequent cranial birth injury, a slow subperiosteal bleed from disruption of superficial communicating veins between diploic space and periosteum, is called Cephalohematoma
Usually unilateral, bleed within the subperiosteal space, usually not sole cause of neurological sequalae; describe what? Cephalohematoma
A large newborn boy (4200 g) is noted on initial exam to have bilateral cephalohematomas. The infant is otherwise alert and feeds well. Mother asks you what you should do about the cephalohematoma. keep an eye on them (should resolve by itself)
The most common problem caused by opiate intoxication in a newborn is respiratory depression, seizures, bacterial sepsis, or none of the above? none of those are common
Created by: trejonathan93
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