Neurodevelopment disorders of Infancy-Hendrickson Flashcards
1
Q
In the prenatal stage what are common causes of neurodevelopment disorders?
A
- genetic/metabolic
- congential malformations
- drug exposures
- TORCH infections
2
Q
What are some genetic and metabolic disorders?
A
- trisomy 21
- fragile x
- rett syndrome
- PKU
- congenital hypothyroidism
- DMD
3
Q
What is the most common chromosomal abnormality?
What increases the risk of getting it
What is the disability like?
A
trisomy 21
increases with maternal age
mild to moderal intellectual disability
4
Q
What are some of the physical features of trisomy 21?
A
palmar crease hypotonic broad flat face epicanthal folds on the eyelid short nose slanting eyes large tongue CONGENITAL HEART DISEASE Wide spaced toes
5
Q
What are common neuro complications of people with trisomy 21?
A
- cognitive impairment
- low muscle tone
- motor and language delay
- autistic behavior (rare)
- alzheimer disease
6
Q
What is thsi:
most common form of intellectual disability in boys.
What does it result in?
How do you inherit it?
A
Fragile X
delayed speech, ADD, Autism
X-linked dominant inheritance
7
Q
What causes fragile x syndrome?
What is it the most common cause of in males?
A
caused by mutation in FMR1 gene (expansion of CGG triplet sequence)
autism
8
Q
What are common neuro complications of people with fragile x?
A
hypotonia seizures ataxia memory loss peripheral neuropathy ID delayed speech ADD autism
9
Q
Fragile x usual presents in boys (can occur in girls) where (blank) ONLY presents in girls. Why?
A
Rett syndrome
boys will die
10
Q
In Rett syndrome, girls are normal until (blank) months then deteriorate. Very disabled by (Blank)
A
6-18 months
3
11
Q
What is the classic sign of retts?
What causes Rett syndrome?
How do you get it?
What is the treatment?
A
hand wringing motion
- MECP2 mutation (imporant for brain development)
- spontaneous mutation
- isnt one
12
Q
(blank) is an amino acid found in all proteins, some artificial sweeteners (aspartame).
A
phenylalanine
13
Q
(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?
A
PKU damages nerves in brain controlled diet Mutation in PAH gene autosomal recessive inheritance
14
Q
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
A
PKU (if untreated)
15
Q
(blank) occurs when thyroid gland fails to develop properly (80-85%) or it doesnt function normally (15%) (genetic or moms diet low in iodine)
A
Congenital hypothyroidism
16
Q
What is congenital hypothyroidism caused by?
How do you get it?
How do you treat it?
When do symptoms appear?
A
- gene defects in PAX8 and TSHR
- sporadic
- levothyroxine
- 3-4 weeks of life
17
Q
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
A
Congential hypothyroidism (if untreated)
18
Q
What is this:
Group of genetic diseases in which a muscle protein is abnormal, susceptible to damage.
A
Muscle dystrophy
19
Q
What are the 9 major types of MD?
A
Duchenne Becker Emery-Dreifuss Limb-girdle Fascioscapulohumeral Oculopharyngeal Myotonic Congenital Distal
20
Q
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?
A
50% X-linked recessive defective dystrophin at Xp21 before age 6 with rapid progression look at creatine kinase
21
Q
What is the progression of DMD?
A
-trouble walking, gowers sign, ID, cardiomyopathy, scoliosis, muscle wasting, contractures, lose ability to walk by 12 and respiratory failure/death by 40
22
Q
What is a congenital malformation?
A
a physical defect present at birth
23
Q
What is a possible cause for congenital malformations?
A
- Genetic defect
- Teratogen
- Physical forces (e.g. “Potter’s facies” in oligohydramnios;; amniotic band syndrome)
- Abnormal signaling molecules/cell migration
- Nutritional deficiency
24
Q
What are these:
neural tube defects
cleft lip/palate
cyanotic heart lesions
A
Congenital malformations
25
What are neural tube defects?
Defects in brain, spine, or spinal cord caused by neural tube not closing properly during gastrulation (first trimester).
26
What are risk factors for neural tube defects?
folate and B12 deficiency
- maternal obesity
- diabetes
- hyperthermia
- cigarette smoke exposure
27
How can you check for neura tube defects?
maternal serum fetal-protein (MSAFP) and prenatal UA
28
What is the most common neural tube defect and where is it usually located?
spina bifida
| lumbar/sacral region
29
What is the least common spina bifida?
meningocele
30
What is this:
10-20% of pop
usually asymptomatic, found incidentally or due to skin defect
occulta
31
What is this:
| least common form of spina bifida, treated surgically, often no sequelae
meningocele
32
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
33
What is the most common cause of intellectual disability in US?
fetal alcohol syndrome (8% of pregnant mothers drink)
34
What are the distinct facial features of FAS?
- small eye openings
- smooth philtrum
- thin upper lip
35
ALcohol is (blank) and will cause brain damage
neurotoxic
36
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
```
37
What is the most commonly used illicit drug in pregnancy?
marijuana (THC) exposure (3-4% in US)
38
THC is a signif (blank) in both pregnancy and lactation. The effects are (blank) dependent/
neuroteratogen
| dose
39
What is marijuana exposure to fetuses linked to?
```
ADD/ADHD
Cognitive impairment
Altered emotional responses
Growth retardation
Motor delays
```
40
2-3% of pregnant mothers abuse ....?
heroin, methadone, or prescription painkillers (e.g oxycodone)
41
What is this:
| birth causes sudden withdrawal of opiates for baby and it depends on mothers dose.
Neonatal abstinence syndrome (NAS)
42
How long does NAS last?
| How do you treat these babies?
up to 10 weeks after birth
| -treated w/ opiates for baby, slowly weaned
43
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
```
44
Babies with NAS often have what kind of problems as children?
ADD/ADHD, behavioral problems as children.
45
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
46
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
47
What is the biggest risk of babies with cocaine addict moms?
neglect and abuse :(
48
(blank) percent of pregnant women smoke
16%
49
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
50
What does TORCH stand for?
```
Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpes
```
51
How are torch infections acquired by baby?
| What can they cause?
passed to infant across placent or during birth
| morbidity/mortality in neonates
52
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
53
What is the definition of preterm labor?
37 weeks or less gestation
54
What is late preterm?
What is very preterm?
What is extremely preterm?
34-37 weeks
25-33 weeks
<25 weeks
55
How common in prematurity?
| What does it result in?
1 in 9 births in US
| 35% of neonatal deaths
56
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
```
57
What are early problems associated with prematurity?
```
Respiratory issues (Respiratory Distress Syndrome, apnea)
Feeding difficulties
Intraventricular hemorrhage
Jaundice
Sepsis
Necrotizing enterocolitis
```
58
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
59
Even late premies (34-37 weeks) have higher rates of (blank)
school problems, behavior/attention problems
60
```
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%
61
Almost all survivors of HIE have significant (blank)
signif disability
62
What are the sequelae of HIE?
- Seizures (usually shortly after birth)
- Developmental delay
- Cerebral palsy/motor impairment
- Cognitive impairment
- Sometimes not ambulatory or verbal
63
What are HIE risk factors?
- Maternal HTN
- Cephalopelvic disproportion
- Prolapsed umbilical cord
- Tight nuchal or body cord
- Placental or uterine abruption
- Fetal stroke
64
(blank) occurs in s shoulder is behind moms pelvis)
brachial plexus injury
65
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
66
What is Erb's palsy?
a brachial plexus injury to C5-C6
| -> results in paralysis of deltoid, biceps, brachialis muscles
67
What is neonatal sepsis?
| What is the morntality
blood infection in first 90 days
-early onset (3 days)
accounts for 16% of neonatal deaths
68
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
69
What are important organisms for neonatal sepsis?
Group B strep
E. coli
L. monocytogenes
Herpes virus
70
What usually causes late sepsis?
environment
71
GBS incidence/mortaity has dropped dramatically with (blank, blank)
maternal antibiotics and intrapartum antibiotics
72
Incidence of in (blank) bactermic neonates is 23%
meningitis
73
What is the profound neurologic sequelae of neonatal sepsis if meningitis is preset?
Cerebral palsy
ID
Visual/hearing impairment
74
What is this:
| injury to basal ganglia and brainstem caused by extreme untreated hyperbilirubinemia
Kernicterus
75
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.
76
(blank) is neurotoxic, easily passes through newborn blood-brain barrier.
Bilirubin
77
T or F
| Hyperbilirubinemia common in first days of life due to breakdown of fetal RBCs, immature liver.
T
78
What are risk factors for severe cases of hyperbilirubinemia (kernicterus)?
- RBC antigen incompatibilities (e.g., mom O, baby A or B)
| - Prematurity
79
What is the tx for kernicterus?
phototherapy, exchange transfusion (if severe).
80
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%)
81
What do survivors of abusive head trauma demonstrate?
```
Blindness, hearing loss
Intellectual disability
Behavior issues
Seizures
Cerebral palsy
Spinal injury/paralysis
Precocious puberty
```
82
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)
```
83
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
84
Children severely neglected before age 3 have increased risk of lifelong (blank, blank and blank).
social, psychological, health problems
85
What are risk factors for child neglect?
```
Mental health issues
Substance abuse
Domestic violence
Poverty (increases risk 6x)
Single parent
```
86
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
87
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
88
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.
89
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.
90
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.
91
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
92
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)
93
```
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
94
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)
95
What are risk factors of autism?
-old parent, diabetic mother, infections, drugs, BEING A BOY (5x more likely), familial
96
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
```
97
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
98
What is recommended for all children at 9, 18, and 30 months and it is a parent-completed questionnaire?
Ages and stages questionnaire (ASQ)
99
What is recommended for all children at 18 months, repeat at age 2 if equivocal, parent completed and used for autism
M-CHAT
100
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.
101
(blank) should be perfomred on all 18 month olds. How do you treat autism?
M-CHAT
| -behavioral therapy
102
What do you need occupational therapy for?
Fine motor skills
Sensory processing disorders
Self-help skills
103
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
104
Where do you refer kids after age 3, with speech/eval therapy, autism evaluations/ therapy?
Child Find (school districts)
