Neurology/Developmental Flashcards
What is Down syndrome?
a genetic chromosome 21 disorder causing developmental and intellectual delays
What is Down syndrome?
a genetic chromosome 21 disorder causing developmental and intellectual delays
What is the most common chromosomal disorder and cause of mental retardation?
down syndrome
What are the characteristic of Down syndrome?
characterized by trisomy 21 (most often) or chromosomal translocation
What are the risk factors for Down syndrome?
risk factors include advanced maternal age
- 1:1500 in women under 20
- 1:25 in women over 45
What is Down syndrome associated with?
- acute lymphocytic leukemia
- early-onset Alzheimer’s disease
- atlantoaxial instability
What are the dysmorphic features of Down syndrome?
- microcephaly, flat occiput, flattened face, epicentral folds, flat nasal bridge, upward-slanting palpebral fissures, small nose/mouth, protuberant tongue, low-set/small ears, short neck, excessive nuchal skin, Brushfield spots (small white/grayish spots on periphery of iris), shortened extremities, big gap between first toe (hallux)
- other = single transverse palmer crease, short fifth finger with clinodactyly
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
- an amniotic fluid sample is obtained with a fine needle through the abdomen and uterus
- performed during 15th week of pregnancy or later
- less risk to the child than chorionic villus sampling
- usually indicated for mothers> 35 years old
Chorionic villus sampling (CVS)
- placental tissue sampling is relieved via vagina and cervix
- usually performed between the 10th and 12th week of pregnancy
- more risk to the child, but can be performed earlier
- usually indicated in mothers > 35 years of age
Quadruple screen (normally does some time between the 15th and 22nd): looks for four specific substances: AFP, hCG, estriol, and inhibin-A
- increased serum beta-human chorionic gonadotropin (B-hCG), inhibin A
- decreased unconjuaged estiol (uE3), alpha-fetoprotein (AFP)
Postnatal diagnosis
- fluorescent in situ hybridization (FISH), karyotyping
- postnatal diagnosis = clinical identification of dysmorphic features
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
-an amniotic fluid sample
What is the most common chromosomal disorder and cause of mental retardation?
down syndrome
What are the characteristic of Down syndrome?
characterized by trisomy 21 (most often) or chromosomal translocation
What are the risk factors of febrile seizure?
- elevated fever (>38 C)
- age - potentially due to developing nervous system being vulnerable to fever
- viral infection (HHV-6, influenza virus)
- family history - potential genetic component
- recent immunizations - the absolute risk is small
What is Down syndrome associated with?
- acute lymphocytic leukemia
- early-onset Alzheimer’s disease
- atlantoaxial instability
What is the tx of febrile seizure?
- mostly counseling, reassurance, and education the parent, antipyretics help alleviate symptoms of fever
- further consideration for complex febrile seizures more commonly associated with infection or structure abnormalities
- consider obtaining EEG though not required
- may treat with benzodiazepine if lasts > 5 minutes
- terminate status epileptics with benzo or phenytoin
- initiate status epileptics protocol if continues
- rarely develops into epilepsy
- monitor complex febrile seizures as more likely to recur
What are the most common issues for those affected with Down’s syndrome?
- septal defects between atria
- duodenal atresia
- increased risk for acute lymphoblastic leukemia
- mental retardation and an increased risk for Alzheimer disease
- sterility in males
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
-an amniotic fluid sample
What is the tx of Down syndrome?
prenatal genetic counseling; supportive management of affected body systems
What is a febrile seizure?
convulsion associated with an elevated temperature greater than 38 (100.4 F)
-associated with fever without evidence of CNS infection, afebrile seizure history, or metabolic disturbance
What is the most common seizure in infants and young children?
febrile seizure
-occurs between 6 months and 5 years of age, with a slight male predominance
What are the risk factors of febrile seizure?
- elevated fever (>38 C)
- age - potentially due to developing nervous system being vulnerable to fever
- viral infection (HHV-6, influenza virus)
- family history - potential genetic component
- recent immunizations - the absolute risk is small
How are febrile seizure dx?
clinical diagnosis
- consider lumbar puncture if suspicious of meningitis
- lack of Haemophilus influenza type B or streptococcus pneumonia vaccination
- physical exam suggesting meningitis or some CNS infection
- lab may be used for seizure evaluation in the setting of complex febrile seizure
- do if useful to identify fever source
What is the tx of febrile seizure?
- mostly counseling, reassurance, and education the parent, antipyretics help alleviate symptoms of fever
- further consideration for complex febrile seizures more commonly associated with infection or structure abnormalities
- consider obtaining EEG though not required
- may treat with benzodiazepine if lasts > 5 minutes
- terminate status epileptics with benzo or phenytoin
- initiate status epileptics protocol if continues
- rarely develops into epilepsy
- monitor complex febrile seizures as more likely to recur
What are the CSF finding on lumbar puncture for meningitis?
- bacterial: increase protein, decrease glucose (bacteria love to eat glucose
- viral: no specific characteristics but may have lymphocytes
-make sure the patient does not have increased intracranial pressure prior to LP check for papilledema and get a CT scan if you are unsure if there is swelling in the brain (risks include age >60, immunocompromised, AMS, focal near finding or papilledema)
What is the classical triad of meningitis?
headache, fever, and a stiff neck (nuchal rigidity)
What are most cases of meningitis caused by?
viral infection, but bacterial, parasitic and fungal infections are other causes
- unlike encephalitis no mental status changes
- N. meningitidis (most likely if pt. has a rash) = petechiae
What are the physical exam findings of meningitis?
Kernig sign - knee extension causes pain in the neck
Brudzinski sign - leg raise when bend neck
What are the bacterial etiologies of meningitis?
- neonate: E. coli (gram-negative rods) and S. agalactiae (group B streptococcus)
- most people: S. pneumonia (gram-postive diplococci), n. meningitidis (gram-negative diplococci)
- immunocompromised: cryptococcus neoformans (diagnosis: india ink stain
What are the viral etiologies of meningitis?
- most cases in United States are caused by a group of viruses known as enteroviruses, which are most common in late summer and early fall
- viruses such as herpes simplex virus, HIV, mumps, West Nile virus and other also can cause viral meningitis
What is the fungal etiology of meningitis?
cryptococcal meningitis is a common fungal form of the disease that affects people with immune deficiencies, such as AIDS
How is meningitis dx?
spinal tap: increased opening pressure, decreed glucose, increased WBC (neutrophils), increased protein
What is the tx of meningitis?
dexamethasone + empiric IV antibiotics (cephalosporin, vancomycin, penicillins)
-household contacts: treat with rifampin, Cipro, Levaquin, azithromycin, ceftriaxone
What is aseptic meningitis?
- etiology: enterovirus, HSV, TB, fungus
- spinal tap - normal pressure, increased WBC (lymphocytes)
- treatment: symptomatic of IV acyclovir for HSV
What is a focal seizure with retained awareness (consciousness maintained)?
- this type of focal seizure was previously known as a simple partial seizure
- no alteration in consciousness
- abnormal movements or sensations
What is a focal seizures with a loss of awareness (consciousness impaired)?
- this type of focal seizure may also be called a focal dyscognitive seizure (previously known as complex partial seizures)
- altered consciousness, automatisms (lip-smacking)
- present with a postictal state (confusion and loss of memory) which differentiate them from absence seizures
What is the tx of focal seizure?
phenytoin, and carbamazepine are drugs of choice
When do generalized seizures occur?
when there is widespread seizure activity in the left and right hemispheres of the brain
-start midbrain or brainstem and spread to both cortices
What is an absence seizures?
(firmly known as petit Mal)
- characterized by a brief impairment of consciousness with an abrupt beginning and ending
- at times involuntary movements may occur, buy they are uncommon and the patient has no recollection and witnesses commonly miss them
What are tonic-clonic seizures?
or convulsie seizures (formerly known as grand Mal)
- bilaterally symmetric and without focal onset
- begins with a sudden loss of consciousness - a fall to the ground
- tonic phase: very stiff and rigid 10-60 seconds
- clonic phase: generalized convulsions and limb jerkin g
- postical phase: a confused state
What is an atonic seizures?
also known as drop attacks
-looks like syncope, sudden loss of muscle tone
What is clonic seizure?
- during a clonic seizure, a person may lost control of bodily functions and begin jerking in various parts of the body
- he/she may temporarily lose consciousness, followed by confusion
What is a tonic seizure?
extreme rigidity then immediate LOC, but not followed by a clonic phase
What is a myoclonic seizure?
muscle jerking, but not the tonic phase, occurs in the morning
What is a febrile seizure?
convulsion associated with an elevated temperature greater than 38, >6 months <5 years, absence of central nervous system infection or inflammation
What is an infantile spasms?
type of epilepsy seizure but they do not fit into the category of focal or generalized seizures
What is a psychogenic non-epileptic seizure (PNES)?
not due to epilepsy but may look very similar to an epilepsy seizure
What is status epilepticus?
a single epileptic seizure lasting more than five minutes or two or more seizures within a five-minute period without there person returning to normal between them
-two forms: convulsive and non convulsive
What is convulsive status epileptics?
presents with a regular pattern of contraction and extension of the arms and legs
What is non convulsive status epilepticus?
includes complex partial status epilepticus and absence status epilepticus
What is the tx for seizures?
benzodiazepines (lorazepam) are the preferred initial treatment after which typically phenytoin is given
When does teething generally occur?
between 6 to 24 months of age
What teeth are the first teeth to come in?
the two bottom front teeth (lower central incisors) are usually the first to appear, followed by two top front teeth (upper central incisors)
What are the classic signs and symptoms fo teething?
- excessive drooling
- chewing on objects
- irritability or crankiness
- sore or tender gums
- a slight increase in temperature - but no fever
What is the tx for teething?
the management of teething symptoms is palliative (chewing on a chilled [not frozen] teething ring or other teething devices, systemic analgesia)
- teething rings and other chewing devices should be one piece
- these devices should not be dipped in sugary substances
- teething necklaces, bracelets, or anklets that are made of beads should be avoided
- avoid over-the-counter (including homeopathic remedies) or prescription-strength topical analgesics (lidocaine, benzocaine) for teething pain
- over-the-counter pain medications such as acetaminophen (Tylenol, others) or ibuprofen (advil, Motrin, others) if especially fussy
What is the routine dental care?
- run a soft, clean cloth over baby’s gums twice a day - after the morning feeding and before bed
- the cleansing can keep food debris and bacteria from building up in the baby’s mouth
- when a baby’s first teeth appear, use a small, soft-bristled toothbrush to clean his or her teeth twice a day
- until children learn to spit - at about age 3 - use a smear of fluoride toothpaste no bigger than the size of a grain of rice
- then switch to a pea-sized dollop as children approach 2 to 3 years of age
- the American dental association and the American academy of pediatric dentistry recommended scheduling a child’s first dental visit at or near his or her first birthday
What is Turner syndrome?
a genetic disorder caused by missing X chromosome in females (45XO)
What is the most common cause of primary amenorrhea (uterus present)?
turner syndrome
-most patients are infertile
What are the most common features of Turner syndrome?
features include streak ovaries, short stature, lymphedema, neck webbing, and congenital heart and renal defects
What are the symptoms of turner syndrome?
- amenorrhea
- short stature
- webbed neck
What are the physical exam of turner syndrome?
- amenorrhea with a present uterus
- coarctation of the aorta may be evident on auscultation
- low hairline in back
- low-set ears
- extremity edema
- hypertension
- signs of thyroid dysfunction
- stool guaiac may identify GI bleedng
How is the dx of Turner syndrome made?
based primarily on physical exam and patient history
- labs = low anti-mullerian hormone
- karyotype analysis is the diagnostic test of choice = may identify 45XO, confirming the diagnosis
- fertility testing may identify 45XO, confirming the diagnosis
- endoscopy may identify GI telangiectatic causing lower GI bleeding
What is the tx of Turner syndrome?
growth hormone therapy and sex hormones replacement therapy
What is the injury prevention for birth and/or 3-5 days?
- crib safety
- hot water heaters <120 F
- car safety seats
- smoke detectors
- back to sleep
- crib safety
What is violence prevention for birth and/or 3-5 days?
- assess bonding and attachment
- identify family strife, lack of support, pathology
- educate parents on nurturing
What is nutritional counseling for birth and/or 3-5 days?
- exclusive breastfeeding encouraged (should breastfeed every 2-3 hours)
- formula as the second-best option (every 3-4 hours)
What is the fostering optimal development for birth and/or 3-5 days?
- discuss parenting skills
- refer for parenting education
What is the injury prevention for 2 weeks of 1 month?
- fall back to sleep
- tummy time when awake: 5-10 minutes 2-3 times per day
What is the violence prevention for 2 weeks of 1 month?
- discuss sibling rivalry
- assess if guns in the home
What is the nutritional counseling for 2 weeks of 1 month?
- assess breastfeeding and offer encouragement, problem solving
- should be back to birth weight at 2-weeks
What is fostering optimal development for 2 weeks of 1 month?
- recognize and manage postpartum blues
- child care options
What is the injury prevention for 2 months?
- burns/hot liquids
- back to sleep
What is violence prevention for 2 months?
reassess firearm safety
What is nutritional counseling for 2 months?
after 3 they do not need to eat during the night
What is fostering optimal development for 2 months?
parent getting enough rest and managing returning to work
What is injury prevention for 4 months?
- infant walkers
- choking/suffocation
- back to sleep
What is the violence prevention for 4 months?
reasses
What is the nutritional counseling for 4 months?
introduction of solid foods
What is fostering optimal development for 4 months?
- discuss central to peripheral motor devlopment
- praise good behavior
What is the injury prevention for 6 months?
- burns/hot surfaces
- place on back to sleep, but once infant can roll no need to worry about rolling to tummy
What is the violence prevention for 6 months?
reassess
What is the nutrional counseling for 6 months?
start water and baby food