Neurodevelopment disorders of Infancy-Hendrickson Flashcards
In the prenatal stage what are common causes of neurodevelopment disorders?
- genetic/metabolic
- congential malformations
- drug exposures
- TORCH infections
What are some genetic and metabolic disorders?
- trisomy 21
- fragile x
- rett syndrome
- PKU
- congenital hypothyroidism
- DMD
What is the most common chromosomal abnormality?
What increases the risk of getting it
What is the disability like?
trisomy 21
increases with maternal age
mild to moderal intellectual disability
What are some of the physical features of trisomy 21?
palmar crease hypotonic broad flat face epicanthal folds on the eyelid short nose slanting eyes large tongue CONGENITAL HEART DISEASE Wide spaced toes
What are common neuro complications of people with trisomy 21?
- cognitive impairment
- low muscle tone
- motor and language delay
- autistic behavior (rare)
- alzheimer disease
What is thsi:
most common form of intellectual disability in boys.
What does it result in?
How do you inherit it?
Fragile X
delayed speech, ADD, Autism
X-linked dominant inheritance
What causes fragile x syndrome?
What is it the most common cause of in males?
caused by mutation in FMR1 gene (expansion of CGG triplet sequence)
autism
What are common neuro complications of people with fragile x?
hypotonia seizures ataxia memory loss peripheral neuropathy ID delayed speech ADD autism
Fragile x usual presents in boys (can occur in girls) where (blank) ONLY presents in girls. Why?
Rett syndrome
boys will die
In Rett syndrome, girls are normal until (blank) months then deteriorate. Very disabled by (Blank)
6-18 months
3
What is the classic sign of retts?
What causes Rett syndrome?
How do you get it?
What is the treatment?
hand wringing motion
- MECP2 mutation (imporant for brain development)
- spontaneous mutation
- isnt one
(blank) is an amino acid found in all proteins, some artificial sweeteners (aspartame).
phenylalanine
(blank) is increased phenylalanine in blood due to lack of phenylalanine hydroxylase. Why is this bad? How do you fix it? Whats it caused by? How do you get it?
PKU damages nerves in brain controlled diet Mutation in PAH gene autosomal recessive inheritance
What is this: Intellectual disability Seizures Tremors or jerky movements Hyperactivity Stunted growth Atopic dermatitis Musty odor in breath, skin, or urine Lighter skin, hair, and eye color than their family members
PKU (if untreated)
(blank) occurs when thyroid gland fails to develop properly (80-85%) or it doesnt function normally (15%) (genetic or moms diet low in iodine)
Congenital hypothyroidism
What is congenital hypothyroidism caused by?
How do you get it?
How do you treat it?
When do symptoms appear?
- gene defects in PAX8 and TSHR
- sporadic
- levothyroxine
- 3-4 weeks of life
What is this: Intellectual disability Poor feeding “Failure to thrive” Coarse facial features, swollen tongue, persistent large fontanels Myxedema Wide, short hands Constipation Hearing loss Jaundice Fatigue Hypotonia Bradycardia
Congential hypothyroidism (if untreated)
What is this:
Group of genetic diseases in which a muscle protein is abnormal, susceptible to damage.
Muscle dystrophy
What are the 9 major types of MD?
Duchenne Becker Emery-Dreifuss Limb-girdle Fascioscapulohumeral Oculopharyngeal Myotonic Congenital Distal
DMD is the cause of (blank) percent of all MD cases. How do you inherit it? What causes it?
When do symptoms begin? How can you check for this?
50% X-linked recessive defective dystrophin at Xp21 before age 6 with rapid progression look at creatine kinase
What is the progression of DMD?
-trouble walking, gowers sign, ID, cardiomyopathy, scoliosis, muscle wasting, contractures, lose ability to walk by 12 and respiratory failure/death by 40
What is a congenital malformation?
a physical defect present at birth
What is a possible cause for congenital malformations?
- Genetic defect
- Teratogen
- Physical forces (e.g. “Potter’s facies” in oligohydramnios;; amniotic band syndrome)
- Abnormal signaling molecules/cell migration
- Nutritional deficiency
What are these:
neural tube defects
cleft lip/palate
cyanotic heart lesions
Congenital malformations
What are neural tube defects?
Defects in brain, spine, or spinal cord caused by neural tube not closing properly during gastrulation (first trimester).
What are risk factors for neural tube defects?
folate and B12 deficiency
- maternal obesity
- diabetes
- hyperthermia
- cigarette smoke exposure
How can you check for neura tube defects?
maternal serum fetal-protein (MSAFP) and prenatal UA
What is the most common neural tube defect and where is it usually located?
spina bifida
lumbar/sacral region
What is the least common spina bifida?
meningocele
What is this:
10-20% of pop
usually asymptomatic, found incidentally or due to skin defect
occulta
What is this:
least common form of spina bifida, treated surgically, often no sequelae
meningocele
What is this:
- paralysis and loss of sensation below lesion, bowel/bladder issues
- brain abnormalities and intellectual deficits common
- physical and other therapies throughout childhood
Myelomeningocele
What is the most common cause of intellectual disability in US?
fetal alcohol syndrome (8% of pregnant mothers drink)
What are the distinct facial features of FAS?
- small eye openings
- smooth philtrum
- thin upper lip
ALcohol is (blank) and will cause brain damage
neurotoxic
The main feature of FAS is brain damage (microcephaly)….what does this manifest itself as?
Learning disabilities/low IQ Impulse control ADD/ADHD Memory problems Social skills deficits Executive function deficits
What is the most commonly used illicit drug in pregnancy?
marijuana (THC) exposure (3-4% in US)
THC is a signif (blank) in both pregnancy and lactation. The effects are (blank) dependent/
neuroteratogen
dose
What is marijuana exposure to fetuses linked to?
ADD/ADHD Cognitive impairment Altered emotional responses Growth retardation Motor delays
2-3% of pregnant mothers abuse ….?
heroin, methadone, or prescription painkillers (e.g oxycodone)
What is this:
birth causes sudden withdrawal of opiates for baby and it depends on mothers dose.
Neonatal abstinence syndrome (NAS)
How long does NAS last?
How do you treat these babies?
up to 10 weeks after birth
-treated w/ opiates for baby, slowly weaned
What are the symptoms of NAS?
High muscle tone Inconsolability Irritability Sneezing Nasal stuffiness Excessive sucking but poor sucking ability High-pitched cry Skin excoriations
Babies with NAS often have what kind of problems as children?
ADD/ADHD, behavioral problems as children.
Babies can be exposed to stimulants such as (blank or blank) which can effect birth how?
cocaine, methamphetamine
Increased risk of placental rupture (cocain), SGA, prematurity, SIDS
How are the infants after birth from a cocaine addict?
-no infant withdrawals, no known birth defects, BUT have probelms with arousal regulation, memory, attention and coordination
What is the biggest risk of babies with cocaine addict moms?
neglect and abuse :(
(blank) percent of pregnant women smoke
16%
Prenatal smoking is linked to…?
Low birth weight
Decreased brain size/IQ
Prematurity
Intrauterine death
SIDS (2-5x risk)
Babies hard to soothe, have increased muscle tension
ADD/ADHD, conduct disorder, depression/anxiety
What does TORCH stand for?
Toxoplasmosis Other Rubella Cytomegalovirus Herpes
How are torch infections acquired by baby?
What can they cause?
passed to infant across placent or during birth
morbidity/mortality in neonates
What should trigger you to think of TORCH infections?
if newborn has:
- Intrauterine Growth Restriction
- Microcephaly
- Intracranial calcifications
- Conjunctivitis
- Hearing loss
- Maculopapular rash
- Hepatosplenomegaly
- Thrombocytopenia
What is the definition of preterm labor?
37 weeks or less gestation
What is late preterm?
What is very preterm?
What is extremely preterm?
34-37 weeks
25-33 weeks
<25 weeks
How common in prematurity?
What does it result in?
1 in 9 births in US
35% of neonatal deaths
What are risk factors for prematurity?
Low or high maternal age African-American Poverty Infection Hypertension Multiple gestation Prior preterm birth Smoking, EtOH, substance abuse Late prenatal care, stress
What are early problems associated with prematurity?
Respiratory issues (Respiratory Distress Syndrome, apnea) Feeding difficulties Intraventricular hemorrhage Jaundice Sepsis Necrotizing enterocolitis
What are long term problems associated with prematurity?
Cerebral palsy Developmental delay Chronic lung disease (BPD) ADD/ADHD Vision problems (ROP) Hearing impairment
ROP-retinopathy of prematurity
BPD-bronchopulmonary dysplasia
Even late premies (34-37 weeks) have higher rates of (blank)
school problems, behavior/attention problems
What is this: Brain injury caused by impaired cerebral blood flow/lack of oxygen. Who does it happen mostly in? What determines the severity/symptoms? What is the mortality?
- Hypoxic Ischemic Encephalopathy (HIE)
- full-term infants
- what part of the brain is affected
- 50-70%
Almost all survivors of HIE have significant (blank)
signif disability
What are the sequelae of HIE?
- Seizures (usually shortly after birth)
- Developmental delay
- Cerebral palsy/motor impairment
- Cognitive impairment
- Sometimes not ambulatory or verbal
What are HIE risk factors?
- Maternal HTN
- Cephalopelvic disproportion
- Prolapsed umbilical cord
- Tight nuchal or body cord
- Placental or uterine abruption
- Fetal stroke
(blank) occurs in s shoulder is behind moms pelvis)
brachial plexus injury
What are the symptoms of brachial plexus injury and what determines the severity?
How do you treat?
- depends on nevres affected
- weakness, numbness, decreased reflexes
- time, physical therapy, surgery
What is Erb’s palsy?
a brachial plexus injury to C5-C6
-> results in paralysis of deltoid, biceps, brachialis muscles
What is neonatal sepsis?
What is the morntality
blood infection in first 90 days
-early onset (3 days)
accounts for 16% of neonatal deaths
What are the risk factors of early onset neonatal sepsis?
Chorioamnionitis
Maternal Group B strep (GBS)
Prematurity or low birth weight
Prolonged rupture of membranes >18 hrs
What are important organisms for neonatal sepsis?
Group B strep
E. coli
L. monocytogenes
Herpes virus
What usually causes late sepsis?
environment
GBS incidence/mortaity has dropped dramatically with (blank, blank)
maternal antibiotics and intrapartum antibiotics
Incidence of in (blank) bactermic neonates is 23%
meningitis
What is the profound neurologic sequelae of neonatal sepsis if meningitis is preset?
Cerebral palsy
ID
Visual/hearing impairment
What is this:
injury to basal ganglia and brainstem caused by extreme untreated hyperbilirubinemia
Kernicterus
What are the initial symptoms of kernicterus?
What are the late symptoms of kernicterus?
Initial sx: lethargy, poor feeding, irritable, hypotonia, seizures.
Late sx: intellectual disability, problems with movement, vision, hearing.
(blank) is neurotoxic, easily passes through newborn blood-brain barrier.
Bilirubin
T or F
Hyperbilirubinemia common in first days of life due to breakdown of fetal RBCs, immature liver.
T
What are risk factors for severe cases of hyperbilirubinemia (kernicterus)?
- RBC antigen incompatibilities (e.g., mom O, baby A or B)
- Prematurity
What is the tx for kernicterus?
phototherapy, exchange transfusion (if severe).
What is this:
Serious brain injury resulting from forcefully shaking infant or toddler.
What does this result in?
Abusive head trauma (“shaken baby syndrome”)
-permanent brain damage (80%) or death (20%)
What do survivors of abusive head trauma demonstrate?
Blindness, hearing loss Intellectual disability Behavior issues Seizures Cerebral palsy Spinal injury/paralysis Precocious puberty
What are risk factors for abusive head trauma?
Unrealistic expectations of babies Young or single parenthood Poverty (increases risk 4x) Domestic violence or parental conflict Alcohol or substance abuse Depression A history of mistreatment as a child Men more likely (especially if not FOB)
What is this:
Form of maltreatment in which child’s basic needs unmet.
Most frequent type of mistreatment.
May be physical, emotional, medical, educational, nutritional, or lack of supervision.
Child neglect
Children severely neglected before age 3 have increased risk of lifelong (blank, blank and blank).
social, psychological, health problems
What are risk factors for child neglect?
Mental health issues Substance abuse Domestic violence Poverty (increases risk 6x) Single parent
Infants of (blank) mothers have less social engagement, more negative emotionality, more trouble regulating emotion, and higher cortisol reactivity vs. controls.
The infants will forever have their (blank) altered .
What increases the risk of maternal depression?
depressed HPA axis (stress response)
Poverty by 2.5 X
What is this:
Group of disorders affecting movement, balance and posture.
Caused by abnormal brain development or brain damage before, during, or after birth.
Specific cause of most cases of is unknown; infection, trauma, and hypoxia are common factors.
Affects ability to control muscles.
1 in 323 U.S. children.
Who is it most common in?
When is it usually diagnosed?
Cerebral palsy
AA boys
age 2-3
Is cerebral palsy progressive?
Can they walk?
What do their muscles feel like?
What are co-occuring conditions?
Is nonprogressive.
77% are “spastic”- have tight muscles.
58% can walk independently.
Many have co-occurring conditions: epilepsy (41%), autism (7%); about half have seizures and intellectual disability.
What are the symptoms of cerebral palsy patients less than 6 months of age?
Might be stiff or floppy.
When held, might arch neck and back as if pushing away.
When picked up from supine, head might fall backward.
Legs might get stiff, cross or scissor.
What are the symptoms of cerebral palsy patients 6 months-12 months of age?
Might not roll over.
Might not bring hands together or to mouth.
Might reach out with only one hand while keeping the other fisted.
What are the symptoms of cerebral palsy patients greater than 12 months of age?
- might not crawl
- might not be able to stand w/ support
What are the spastic types of cerebral palsy?
What are the dyskinetic types of CP?
What is the ataxia type of CP?
- hemiplegia, diplegia, quadriplegia (pyramidal)
- athetoid, dystonic (extrapyramidal)
- ataxic (extrapyramidal)
What is this: Impaired social interactions Communication difficulties Lack of empathy/awareness of others Unusual, repetitive, or narrow and obsessive (“stereotyped”) interests and activities When do symptoms present?
Autism
-before age 3
What is the prevalence of autism?
What causes it?
What are known genetic disorders/diseases associated with it?
1 in 88
genetic and environment (hereditary)
-fragile x, tuberous sclerosis, seizure disorders)
What are risk factors of autism?
-old parent, diabetic mother, infections, drugs, BEING A BOY (5x more likely), familial
What are some worrisome signs of infancy indicative of autism?No babbling or pointing by age (blank)
No single words by (blank) months or two-word phrases by age (blank).
AND……..?
1 year 16 months; 2 year No response to name Loss of language or social skills Poor eye contact Excessive lining up of toys or objects No smiling or social responsiveness
What are some worrisome signs of childhood indicative of autism?
- friend issues
- conversation issues
- playing issues
- Stereotyped, repetitive, or unusual use of language
- Restricted and intense interests
- Preoccupation with certain objects or subjects
- Rituals
What is recommended for all children at 9, 18, and 30 months and it is a parent-completed questionnaire?
Ages and stages questionnaire (ASQ)
What is recommended for all children at 18 months, repeat at age 2 if equivocal, parent completed and used for autism
M-CHAT
What does the ages and stages aaddress?
Whats easy about it and what does it detect well?
Communication Gross motor Fine motor Problem solving Personal-social
-Easy to score and interpret, detects subtle delay well.
(blank) should be perfomred on all 18 month olds. How do you treat autism?
M-CHAT
-behavioral therapy
What do you need occupational therapy for?
Fine motor skills
Sensory processing disorders
Self-help skills
Where do you refer kids younger than 3 with physical/occupational therapy; speech evaluation/therapy; autism evaluations; genetics evaluations; nutrition counseling; social skills?
Nevada early intervention services
Where do you refer kids after age 3, with speech/eval therapy, autism evaluations/ therapy?
Child Find (school districts)
