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Block 8; Week 3 > Developmental Problems-Hendrickson > Flashcards

Developmental Problems-Hendrickson Flashcards

1
Q

What are some prenatal causes of developmental disorders & their consequences?

A 
genetic/metabolic
congenital malformations
drug exposures
TORCH infections
results: intellectual, speech, motor, growth, social/behavioral
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2
Q

What are some perinatal causes of developmental disorders?

A 
prematurity
HIE
brachial plexus injury
neonatal sepsis
kernicterus
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3
Q

What are some postnatal causes of developmental disorders?

A

abusive head trauma
child neglect
maternal depression

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4
Q

T/F If it affects oxygen, nutrition, stress…any significant health or social crisis in early life can cause a nervous system problem.

A

True.

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5
Q

What’s the deal w/ trisomy 21?

A

most common chromosomal abnormality
1/1000 risk increases w/ maternal age
mild intellectual disability
**includes growth failure, MR, flat back of head, abnormal ears, loops on finger tips, palm crease, broad flat face, slating eyes, epicanthic eye fold, big space b/w first 2 toes

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6
Q

What are trisomy 21 neurologic impairment?

A 
cognitive impairment
low muscle tone
motor & language delay
autistic behavior
alzheimer's disease
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7
Q

What is fragile x syndrome?

A 
most common inherited intellectual disability in boys
1/4000 males
delayed pseech, ADD, autism
X-linked dominant inheritance
FMR1 gene (CGG expansion)
common genetic cause of autism
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8
Q

What are the physical features of fragile x syndrome?

A

broad forehead, elongated face, big ears, strabismus (crossed eyes)
hypotonia
seizures

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9
Q

What is Rett syndrome?

A

only affects females
often misdiagnosed w/ autism or cerebral palsy
normal until 6-18 mo
lose ability speak, walk, use hands purposefully
hand wringing motion

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10
Q

What is the genetic deal w/ Rett syndrome? WHat is the prognosis?

A

MECP2 mutation–disrupts other genes important for brain development
X-linked dominant
girls live until their 40s-50s

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11
Q

What’s the deal with PKU?

A

increased phenyalanine in blood due to lack of phenylalanine hydroxylase
nerve cells in brain vulnerable to this increase
PAH gene mutation
aut recessive
control thru diet

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12
Q

What are the symptoms of PKU if untreated?

A 
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
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13
Q

What is congenital hypothyroidism?

A

when thyroid gland fails to develop properly
multiple gene defects–PAX8, TSHR
treat w/ levothyroxine
see symptoms 3-4 weeks after birth

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14
Q

If congenital hypothyroidism is left untreated…what are the symptoms you see?

A 
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
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15
Q

What is muscular dystrophy?

A

Group of genetic diseases in which a muscle protein is abnormal, susceptible to damage.

Duchenne
Becker
Emery-Dreifuss
Limb-girdle
Fascioscapulohumeral
Oculopharyngeal
Myotonic
Congenital
Distal
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16
Q

What’s the deal with DMD?

A

X-linked recessive
mostly affects boys
defective gene for dystrophin at xp21

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17
Q

What are the symptoms of DMD?

A

pseudo hypertrophy of calf muscle

Frequent falls; trouble running, jumping; waddling gait.
Difficulty rising from sit or lie (Gowers’ sign).
1/3 have intellectual, behavioral, speech, vision problems.
Cardiomyopathy, scoliosis, muscle wasting, contractures.
Lose ability to walk by age 12; respiratory failure/death by age 40.

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18
Q

T/F Creatine kinase is elevated in patients with DMD.

A

True.

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19
Q

What are some examples of congenital malformations?

A

Neural tube defects
Cleft lip/palate
Cyanotic heart lesions

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20
Q

What are some possible causes of congenital malformation?

A

Genetic defect
Teratogen
Physical forces (e.g. “Potter’s facies” in oligohydramnios;; amniotic band syndrome)
Abnormal signaling molecules/cell migration
Nutritional deficiency

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21
Q

What are neural tube defects?

A

Defects in brain, spine, or spinal cord caused by neural tube not closing properly during gastrulation (first trimester).
Ex: anencephaly, encephalocele, hydroencephalocele, spina bifida

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22
Q

What causes NTD?

A

Maternal folate and B12 deficiency clearly a risk factor. Others: maternal obesity, diabetes, hyperthermia, cigarette smoke exposure.

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23
Q

What is a lab sign of NTDs?

A

Elevated maternal serum alpha fetal-protein (MSAFP) screening + prenatal ultrasounds usually detect before birth.

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24
Q

What are the different types of spina bifida?

A

common NTD in the lumbar & sacral region
Occulta: usu asymptomatic, skin defect
Meningocele: get some meninges bulging out too
Myelomeningocele: paralysis & loss of sensation below lesion, brain abnormalities & intellectual deficits, spinal cord bulging out too!

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25
What are some bad drugs to be exposed to during pregnancy?
``` Fetal alcohol syndrome Marijuana (THC) Opiates Stimulants Tobacco ```
26
What is fetal alcohol syndrome?
``` most common cause of ID in US distinctive facial features, poor growth brain damage-microcephaly, migration abnormalities Learning disabilities/low IQ Impulse control ADD/ADHD Memory problems Social skills deficits Executive function deficits ```
27
What are some distinct facial features in children with FAS?
small eye openings smooth philtrum thin upper lip **also may have heart, joint, renal, ocular problems
28
Exposure to marijuana during pregnancy is linked to which abnormalities?
``` ADD/ADHD Cognitive impairment Altered emotional responses Growth retardation Motor delays ```
29
What is neonatal abstinence syndrome?
birth causes sudden withdrawal of opiates for baby | may last up to 10 weeks after birth
30
What are the symptoms of neonatal abstinence syndrome?
``` High muscle tone Inconsolability Irritability Sneezing Nasal stuffiness Excessive sucking but poor sucking ability High-pitched cry Skin excoriations ```
31
Which conditions later on is opiate exposure during pregnancy linked to?
ADD/ADHD, behavioral problems as children.
32
What are examples of opiates?
abuse heroin, methadone, or prescription painkillers (e.g., oxycodone).
33
What are examples of stimulants? What percent of pregnant mothers use this?
1-2% of pregnant mothers | cocaine methamphetamine
34
What are the risks associated with the use of stimulants?
increased risk of placental rupture prematurity SIDS problems w/ arousal, regulation, memory, attention, coordination
35
What percentage of pregnant women use tobacco? What is this use linked to?
16% of pregnant women 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
36
What does TORCH stand for? How are these infections acquired?
Toxoplasmosis Other-syphilis, HIV, VZV, parvovirus B19, enteroviruses Rubella Cytomegalovirus Herpes **infections acquired by mother during pregnancy & passed to infant across the placenta during birth
37
When should you consider the diagnosis of a TORCH infection?
``` IUGR-intrauterine growth restriction Microcephaly Intracranial calcifications Conjunctivitis Hearing loss Maculopapular rash Hepatosplenomegaly Thrombocytopenia ```
38
HIE is a bad perinatal event...what does this stand for?
hypoxic ischemic encephalopathy
39
What is considered a preterm baby? What are the 3 categories?
Preterm: 37 weeks or less Late preterm: 34-37 weeks Very preterm: 25-33 weeks Extremely Preterm: <25 weeks
40
Prematurity-related problems account for ____% of neonatal deaths in the US.
35%
41
What are the risk factors for a premature baby?
``` Low or high maternal age African-American Poverty Infection Hypertension Multiple gestation Prior preterm birth Smoking, EtOH, substance abuse Late prenatal care, stress ```
42
What are the early issues presented by prematurity?
Respiratory issues (RDS-resp distress syndrome, insufficient surfactant, apnea) Feeding difficulties Intraventricular hemorrhage Jaundice Sepsis Necrotizing enterocolitis-bloody diarrhea
43
What are the long term problems of prematurity?
``` Cerebral palsy Developmental delay Chronic lung disease (BPD) ADD/ADHD Vision problems (ROP) Hearing impairment ```
44
What is hypoxic ischemic encephalopathy?
Brain injury caused by impaired cerebral blood flow/lack of oxygen. mortality: 50-75% most survivors have significant disability
45
What is the sequelae of HIE?
``` Seizures (usually shortly after birth) Developmental delay Cerebral palsy/motor impairment Cognitive impairment Sometimes not ambulatory or verbal ```
46
What are the risk factors for HIE?
``` Maternal HTN Cephalopelvic disproportion Prolapsed umbilical cord Tight nuchal or body cord Placental or uterine abruption Fetal stroke ```
47
How does a brachial plexus injury occur during birth?
Common if shoulder dystocia (baby’s shoulder stuck behind mom’s pubic bone). Pattern depends on nerves affected and severity of injury. Weakness, numbness, decreased reflexes. Time, physical therapy, surgery may help.
48
What is Erb's palsy?
Injury to C5-C6 | Paralysis of deltoid, biceps, brachialis muscles
49
What is neonatal sepsis?
Blood infection in first 90 days: Early onset (3 days) can sometimes get meningitis w/ neurologic consequences--cerebral palsy, ID, visual or hearing impairment
50
What are risk factors for neonatal sepsis? What are important organisms to consider?
``` Risk factors (early onset): Chorioamnionitis Maternal Group B strep (GBS) Prematurity or low birth weight Prolonged rupture of membranes >18 hrs ``` Other important organisms (early): Escherichia coli Listeria monocytogenes Herpes virus
51
What is kernicterus?
Injury to basal ganglia and brainstem caused by extreme, untreated hyperbilirubinemia. Initial symptoms: lethargy, poor feeding, irritable, hypotonia, seizures.
52
What are the later symptoms of kernicterus?
Later symptoms: intellectual disability, problems with movement, vision, hearing.
53
Why is hyperbilirubinemia common in the first few days of a child's life?
due to breakdown of fetal RBCs, immature liver.
54
What are risk factors for kernicterus? What is the treatment?
Risk factors for more severe case: RBC antigen incompatibilities (e.g., mom O, baby A or B) Prematurity Treatment: phototherapy, exchange transfusion (if severe).
55
What is the % of times shake baby syndrome results in permanent brain damage? death?
permanent brain damage: 80% | death: 20%
56
Survivors of shake baby syndrome often have which symptoms?
``` Blindness, hearing loss Intellectual disability Behavior issues Seizures Cerebral palsy Spinal injury/paralysis Precocious puberty ```
57
What are the risk factors for shake baby syndrome?
``` 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) ```
58
What are the risk factors for child neglect? What are the consequences?
``` Children severely neglected before age 3 have increased risk of lifelong social, psychological, health problems. Risk factors: Mental health issues Substance abuse Domestic violence Poverty (increases risk 6x) Single parent ```
59
What are the effects of maternal depression on the well being of an infant?
Infants of depressed mothers have less social engagement, more negative emotionality, more trouble regulating emotion, and higher cortisol reactivity vs. controls. HPA axis permanently altered--toxic stress
60
How does poverty relate to maternal depression?
Poverty increases risk of maternal depression 2.5 times.
61
What is cerebral palsy?
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.
62
What are the variants of cerebral palsy? Which conditions does it sometimes co-occur w/?
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.
63
What are the symptoms of cerebral palsy w/ age <6 mo?
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.
64
What are the symptoms of cerebral palsy in age 6-12 mo?
Might not roll over. Might not bring hands together or to mouth. Might reach out with only one hand while keeping the other fisted.
65
What are the symptoms of cerebral palsy in age >12 mo?
Might not crawl. | Might not be able to stand with support.
66
What are the subtypes of difficulties w/ muscles w/ pyramidal damage in cerebral palsy?
hemiplegia, diplegia, quadriplegia | **spastic movements
67
What are the muscle subtypes of extrapyramidal damage in cerebral palsy?
``` athetoid dystonic ataxic **dyskinetic ataxia ```
68
What are the symptoms of autism?
``` Impaired social interactions Communication difficulties Lack of empathy/awareness of others Unusual, repetitive, or narrow and obsessive (“stereotyped”) interests and activities Symptoms must be present before age 3. ```
69
What are some prenatal risk factors for autism? Gender difference? Familial?
Prenatal risk factors: older parent, diabetic mother, certain infections, drugs, other maternal conditions Boys 5x more likely to have ASD than girls Identical twins have 90% concordance rate If one child in family has autism, risk of another is 1 in 5
70
What are some genetic disorders that are known to cause autism?
Fragile X syndrome Tuberous sclerosis Seizure disorders
71
What might make you suspect autism during infancy?
``` No babbling or pointing by age 1 No single words by 16 months or two-word phrases by age 2 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 ```
72
What are some worrisome signs for autism during childhood?
Impaired ability to make friends with peers Impaired ability to initiate or sustain a conversation with others Absence or impairment of imaginative and social play Stereotyped, repetitive, or unusual use of language Restricted patterns of interest that are abnormal in intensity or focus Preoccupation with certain objects or subjects Inflexible adherence to specific routines or rituals
73
What are some assessment tools for general pediatrician?
``` ASQ Ages & Stages Questionnaires **should be taken at 9, 18, 30 mo parent completed **M-CHAT recommended at 18 months, 2 yrs parent completed screens for autism ```
74
What are the 5 categories of Ages & Stages?
``` Communication Gross motor Fine motor Problem solving Personal-social ```
75
When is speech therapy appropriate?
``` Articulation disorders Expressive/receptive language delays Pragmatic disorders (social language use) Fluency/stuttering Auditory processing disorder Oral motor and feeding issues, dysphagia ```
76
When is physical therapy & occupation therapy necessary?
Physical Gross motor skills Gait abnormalities Occupational Fine motor skills Sensory processing disorders Self-help skills
77
When should a child be referred to Nevada Early Intervention Services?
Before age 3 Physical/occupational therapy; speech evaluation/therapy; autism evaluations; genetics evaluations; nutrition counseling; social skills
78
When should a child be referred to child find (school districts)?
After age 3 | Speech/evaluation therapy; autism evaluations/therapy

Block 8; Week 3 (11 decks)

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