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Block 8 week 3 > Neurodevelopmental problems of infancy - Hendrickson > Flashcards

Neurodevelopmental problems of infancy - Hendrickson Flashcards

1
Q

What are the prenatal causes of neurodevelopment problems?

A

Genetic/metabolic
Congenital malformations
Drug exposures
TORCH infections

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2
Q

What are the perinatal causes of neurodevelopment problems?

A 
Prematurity
HIE
Brachial plexus injury
Neonatal sepsis
Kernicterus
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3
Q

What are the postnatal causes of neurodevelopment problems?

A

Abusive head trauma
Child neglect
Maternal depression

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4
Q

Autism and cerebral palsy are neurodevelopment problems that…….?

A

Are caused by multiple pathways and are multifactorial in nature.

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5
Q

Any significant health or social crisis early in life—even if not directly related to the nervous system does what?

A

Increases risk of developmental delay, disability, and behavioral problems if it affects oxygen, nutrition, or causes prolonged stress. Example - 40-50% of children who survive congenital cyanotic heart lesions have ADHD.

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6
Q

What are some genetic and metabolic disorders?

A 
Trisomy 21
Fragile X syndrome
Rett syndrome
Phenylketonuria (PKU)
Congenital hypothyroidism
Duchenne muscular dystrophy
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7
Q

What is the most common chromosomal abnormality?

A

Trisomy 21 - risk increases with maternal age.

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8
Q

What are some common characteristics of those who have Trisomy 21?

A
  1. Mild (IQ 50-70) to moderate (IQ 35-50) intellectual disability.
  2. congenital heart disease
  3. facies - broad, flat face, epicanthic folds, slanting eyes
  4. palmar crease
  5. big toes, widely spaced
  6. big tongue
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9
Q

What types of cardiac diseases are associated with Trisomy 21?

A

Congenital heart disease (usually VSD and AV canal)

Mitral valve prolapse and aortic regurgitation

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10
Q

What are the neurological complications associated with Trisomy 21?

A 
Cognitive impairment (mild to severe)
Low muscle tone
Motor and language delay
Autistic behavior
Alzheimer disease
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11
Q

What is the most common form of inherited intellectual disability in boys?

A

Fragile X syndrome. Is an X-linked dominant condition.

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12
Q

What are some characteristics of Fragile X syndrome?

A
  1. delayed speech
  2. ADD
  3. autism - boys born with this are often tested for fragile X
  4. tremors, ataxia, memory loss, peripheral neuropathy later in life
  5. hypotonia
  6. seizures
  7. facies - broad forehead, elongated face, prominent ears, crossed eyes
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13
Q

Fragile x syndrome is caused by a mutation in what?

A

The FMR1 gene - is a CGG triplet repeat.

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14
Q

Describe Rett syndrome.

A
  1. Affects only girls; 1:10,000-15,000.
  2. Often misdiagnosed as autism and/or cerebral palsy.
  3. Normal until 6-18 months, then deteriorate. Very disabled by age 3.
  4. Lose ability to speak, walk normally, use hands in purposeful way.
  5. Classic “hand wringing” motion.
  6. girls live to at least 40s-50s - no cure just supportive care
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15
Q

What is the genetic basis of Rett syndrome?

A
  1. MECP2 mutation disrupts normal function of many other genes important for brain development.
  2. Almost always a new mutation, not inherited.- 95% of cases
  3. X-linked dominant; boys don’t survive.
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16
Q

What is PKU?

A
  1. PKU = increased phenylalanine in blood due to lack of phenylalanine hydroxylase.
  2. PKU is an amino acid found in all proteins, and aspartame
  3. autosomal recessive
  4. affects nerve cells - especially in brain
  5. controlled primarily via diet
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17
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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18
Q

What is congenital hypothyroidism?

A

Occurs when thyroid gland fails to develop properly (80-85% of cases) or function normally (genetic, or mom’s diet low in iodine). Symptoms appear at 3-4 weeks of life. Newborns are usually screened.

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19
Q

What causes congenital hypothyroidism?

A
  1. Can be caused by multiple gene defects; defects in PAX8 (2q13) and some defects in TSHR (14q31.1) affect gland formation.
  2. 80-85% cases sporadic; 15-20% inherited (most autosomal recessive).
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20
Q

How is congenital hypothyroidism treated?

A

Levothyroxine therapy.

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21
Q

If untreated, congenital hypothyroidism causes what?

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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22
Q

What is muscular dystrophy?

A

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

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23
Q

What are the types of muscular dystrophy?

A 
9 major types:
Duchenne
Becker
Emery-Dreifuss
Limb-girdle
Fascioscapulohumeral
Oculopharyngeal
Myotonic
Congenital
Distal
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24
Q

Describe some characteristics of Duchenne MD.

A
  1. 50% of all muscular dystrophy cases.
  2. X-linked recessive inheritance, so affects mostly boys; sons of women carriers have 50% chance of disease.
  3. Caused by defective gene for dystrophin (a muscle protein) at Xp21. Check creatine kinase.
  4. Symptoms begin before age 6; rapid progression.
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25
Q

What are some typical symptoms of Duchennes?

A
  1. enlarged calves
  2. Frequent falls; trouble running, jumping; waddling gait.
  3. Difficulty rising from sit or lie (Gowers’ sign).
  4. 1/3 have intellectual, behavioral, speech, vision problems.
  5. Cardiomyopathy, scoliosis, muscle wasting, contractures.
  6. Lose ability to walk by age 12; respiratory failure/death by age 40.
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26
Q

What are congenital malformations?

A

Physical defect present at birth. Examples are:

  1. NTD’s
  2. cleft lip/palate
  3. cyanotic heart lesions
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27
Q

What are possible causes of congenital malformations?

A

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

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28
Q

What are Neural tube defects (NTD’s)?

A

Defects in brain, spine, or spinal cord caused by neural tube not closing properly during gastrulation (first trimester). Is the second most common major congenital defect worldwide - after cardiac.

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29
Q

What are the risk factors for NTD’s?

A

Maternal folate and B12 deficiency clearly a risk factor. Others: maternal obesity, diabetes, hyperthermia, cigarette smoke exposure. Incidence decreased up to 70% if mom takes folate.

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30
Q

How are NTD’s diagnosed?

A

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

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31
Q

What are some NTD’s?

A
  1. anencephaly - no brain develops
  2. encephalocele
  3. hydroencephalocele
  4. spina bifida
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32
Q

What are the types of Spina bifida?

A
  1. Most common neural tube defect (1:2800); usually in lumbar/sacral region.
  2. Occulta:
    10-20% of population
    Usually asymptomatic, found incidentally or due to skin defect
  3. Meningocele:
    Least common form
    Treated surgically, often no sequelae
  4. Myelomeningocele:
    Paralysis and loss of sensation below lesion; bowel/bladder issues
    Brain abnormalities and intellectual deficits common
    Physical and other therapies throughout childhood
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33
Q

What are some common drug exposures during pregnancy?

A 
Fetal alcohol syndrome
Marijuana (THC)
Opiates
Stimulants
Tobacco
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34
Q

Describe Fetal alcohol syndrome.

A
  1. Most common cause of intellectual disability in U.S. ; 8% of pregnant mothers drink.
  2. Highest risk in heavy/binge drinkers; exact toxicity level unknown.
  3. causes poor growth, facies and brain damage as well as possible heart, joint, renal, ocular and other anomalies.
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35
Q

What are the distinctive facial features associated with FAS?

A
  1. small eye openings
  2. smooth filtrum
  3. thin upper lip
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36
Q

What are some of the CNS affects of FAS?

A

Brain damage (microcephaly, migration abnormalities, etc.) is main feature:

Learning disabilities/low IQ
Impulse control
ADD/ADHD
Memory problems
Social skills deficits
Executive function deficits
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37
Q

Describe marijauna exposure in pregnancy.

A
  1. Most commonly used illicit drug in pregnancy (3-4% in U.S.).
  2. Tetrahydrocannaboid (THC) is significant neuroteratogen in both pregnancy and lactation.
  3. Effects are dose-dependent.
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38
Q

What is prenatal marijauna exposure linked to:

A 
ADD/ADHD
Cognitive impairment
Altered emotional responses
Growth retardation
Motor delays
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39
Q

Describe prenatal opiate exposure?

A
  1. 2-3% of pregnant mothers abuse heroin, methadone, or prescription painkillers (e.g., oxycodone).
  2. Neonatal Abstinence Syndrome: birth causes sudden withdrawal of opiates for baby.
  3. NAS severity depends on mother’s dose.
  4. May last up to 10 weeks after birth; treated with opiates for baby, slowly weaned.
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40
Q

What are the symptoms of neonatal abstinence syndrome?

A 
High muscle tone
Inconsolability
Irritability
Sneezing
Nasal stuffiness
Excessive sucking but poor sucking ability
High-pitched cry
Skin excoriations
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41
Q

Opiate exposure in the womb is linked to what?

A

ADD/ADHD, behavioral problems as children.

42
Q

Describe prenatal stimulant exopsure.

A

Cocaine, methamphetamine:

  1. 1-2% of pregnant mothers
  2. Cocaine more extensively studied
  3. Increased risk placental rupture (cocaine), SGA, prematurity, SIDS
  4. No infant withdrawal, no known birth defects
  5. Problems with arousal regulation, memory, attention, coordination
43
Q

What is the something that is highly associated with parental stimulant use?

A

Neglect and abuse by the parent is the biggest risk for infants.

44
Q

What are some other stimulants that unborn babies may be exposed to?

A
  1. ecstasy

2. meth

45
Q

16% of pregnant women smoke. What is associated with exposure to tobacco?

A 
Prenatal smoking 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
46
Q

What are the TORCH infections?

A
  1. Toxoplasmosis
  2. Other - HIV, VZV,parvovirus B19 and enteroviruses
  3. Rubella
  4. Cytomegalovirus
  5. Herpesvirus
47
Q

Infections acquired by moms during pregnancy can be what?

A

Passed to the infant across the placenta or during birth.

48
Q

Infections in newborns should be considered when?

A

Should be considered if newborn has:

IUGR - intrauterine growth restriction
Microcephaly
Intracranial calcifications
Conjunctivitis
Hearing loss
Maculopapular rash 
Hepatosplenomegaly
Thrombocytopenia
49
Q

What are some perinatal events/injuries that can cause neurodevelopment problems?

A 
Prematurity
Hypoxic ischemic encephalopathy (HIE)
Brachial plexus injury
Neonatal sepsis
Kernicterus
50
Q

Describe the parameters of prematurity.

A

Preterm = 37 weeks or less gestation:

Late preterm: 34-37 weeks
Very preterm: 25-33 weeks
Extremely preterm: <25 weeks

51
Q

How common is premature birth?

A

1 out of 9 births in the US.

52
Q

Prematurity causes many issues and accounts for what?

A
  1. 35% of neonatal deaths in the US

2. costs of over 26 billion a year

53
Q

What are the risk factors for premature birth?

A 
Risk factors:
Low or high maternal age
African-American
Poverty
Infection
Hypertension
Multiple gestation
Prior preterm birth
Smoking, EtOH, substance abuse
Late prenatal care, stress
54
Q

What are some early problems seen with premature babies?

A 
Respiratory issues (RDS - respiratory distress syndrome, apnea)
Feeding difficulties
Intraventricular hemorrhage
Jaundice
Sepsis 
Necrotizing enterocolitis
55
Q

What are some long term problems seen with premature baby?

A

Cerebral palsy
Developmental delay
Chronic lung disease (BPD) - bronchopulmonary dysplasia
ADD/ADHD
Vision problems (ROP) - retinopathy of prematurity
Hearing impairment

56
Q

Even late (34-37 weeks) premies can have what?

A

Higher rates of school problems, behavioral/attention problems.

57
Q

What is hypoxic ischemic encephalopathy (HIE)?

A

Brain injury caused by impaired cerebral blood flow/lack of oxygen. Almost all survivors have significant disability.

58
Q

What group is HIE most common in?

A

Full-term infants.

59
Q

What areas of the brain are affected by HIE determines what?

A

Symptoms

60
Q

What are the sequelae of HIE?

A 
Seizures (usually shortly after birth)
Developmental delay
Cerebral palsy/motor impairment
Cognitive impairment 
Sometimes not ambulatory or verbal
61
Q

What are the risk factors for HIE?

A 
Maternal HTN
Cephalopelvic disproportion
Prolapsed umbilical cord 
Tight nuchal or body cord
Placental or uterine abruption
Fetal stroke
62
Q

Describe some characteristics of brachial plexus injury?

A
  1. Occurs in <1% births.
  2. Common if shoulder dystocia (baby’s shoulder stuck behind mom’s pubic bone).
  3. Pattern depends on nerves affected and severity of injury.
  4. Weakness, numbness, decreased reflexes.
  5. Time, physical therapy, surgery may help.
63
Q

What is Erb’s palsy?

A
  1. Injury to C5-C6

2. Paralysis of deltoid, biceps, brachialis muscles

64
Q

What is neonatal sepsis?

A 
Blood infection in first 90 days:
Early onset (3 days)
65
Q

What are the risk factors for early onset neonatal sepsis?

A

Chorioamnionitis
Maternal Group B strep (GBS)
Prematurity or low birth weight
Prolonged rupture of membranes >18 hrs

66
Q

What are some of the important organisms associated with early onset neonatal sepsis?

A
  1. Group B strep
  2. E. coli
  3. Listeria
  4. Herpes virus
67
Q

What is the mortality rate of early onset neonatal sepsis?

A
  1. Mortality up to 50% (early>late); sepsis accounts for 16% of neonatal deaths.
  2. GBS incidence/mortality has dropped dramatically with maternal screening, intrapartum antibiotics.
  3. Incidence of meningitis in bacteremic neonates is 23%.
68
Q

Describe the neurological sequelae of early onset meningitis?

A

Profound neurologic sequelae if meningitis present:
Cerebral palsy
Intellectual disability
Visual/hearing impairment

69
Q

What is Kernicterus?

A

Injury to basal ganglia and brainstem caused by extreme, untreated hyperbilirubinemia. Has initial and late symptoms. Bilirubin is neurotoxic, easily passes through newborn blood-brain barrier.

70
Q

What are the initial and later symptoms of Kernicterus?

A
  1. Initial symptoms: lethargy, poor feeding, irritable, hypotonia, seizures.
  2. Later symptoms: intellectual disability, problems with movement, vision, hearing.
71
Q

Is hyperbilirubinemia common in the first few days of life?

A

Yes, due to breakdown of fetal RBC’s in the immature liver.

72
Q

What are risk factors for more severe cases of neonatal hyperbilirubinemia?

A
  1. RBC antigen incompatibilities such as ABO blood group

2. prematurity

73
Q

What is the treatment for neonatal hyperbilirubinemia/kernicterus?

A

Treatment: phototherapy, exchange transfusion (if severe).

74
Q

What are some postnatal events/injuries that can affect neurodevelopment?

A
  1. Shaken baby syndrome
  2. child neglect/abuse - the risk for this is much higher among families living in poverty
  3. maternal depression
75
Q

What is shaken baby syndrome?

A
  1. Serious brain injury resulting from forcefully shaking infant or toddler.
  2. Results in permanent brain damage (80%) or death (20%).
76
Q

If a baby survives shaken baby syndrome, what are some possible consequences?

A 
Blindness, hearing loss
Intellectual disability 
Behavior issues
Seizures
Cerebral palsy
Spinal injury/paralysis
Precocious puberty
77
Q

What are some risk factors that make shaken baby syndrome more likely to occur?

A 
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 birth father)
78
Q

What is the pathophysiology of shaken baby syndrome?

A

When babies are shaken, the bridging veins in the brain may be sheared and broken and also this often co-occurs with an a traumatic head injury. Hematomas can result.

79
Q

What is child neglect?

A
  1. Form of maltreatment in which child’s basic needs unmet.
  2. Most frequent type of mistreatment.
  3. May be physical, emotional, medical, educational, nutritional, or lack of supervision.
80
Q

Children severely neglected before age 3 have increased life long risk of what?

A

Social, psychological, health problems.

81
Q

What are some risk factors of child neglect?

A 
Mental health issues
Substance abuse
Domestic violence
Poverty (increases risk 6x)
Single parent
82
Q

What is the associated between maternal depression and infant stress?

A
  1. Infants of depressed mothers have less social engagement, more negative emotionality, more trouble regulating emotion, and higher cortisol reactivity vs. controls.
  2. The infant’s stress response system (HPA axis) is permanently altered by maternal depression or other situations that expose infant to “toxic stress.”
  3. Poverty increases risk of maternal depression 2.5 times
83
Q

What is cerebral palsy and what causes it?

A
  1. Group of disorders affecting movement, balance and posture, diagnosed by age 2 to 3.
  2. Caused by abnormal brain development or brain damage before, during, or after birth, is nonprogressive.
  3. Specific cause of most cases of is unknown; infection, trauma, and hypoxia are common factors.
  4. Affects ability to control muscles - mostly spastic or tight muscles. 58% can walk independently.
  5. 1 in 323 U.S. children.
  6. More common in boys, African-Americans, premies.
84
Q

What are some co-occurring conditions of cerebral palsy?

A

Many have co-occurring conditions: epilepsy (41%), autism (7%); about half have seizures and intellectual disability.

85
Q

What are some symptoms of cerebral palsy occurring before age 6 months?

A
  1. may be stiff or floppy
  2. when held, might arch back and neck as if pushing away
  3. when picked up from supine, head might fall backward
  4. legs might get stiff, cross or scissor
86
Q

What are some symptoms of cerebral palsy occurring between the ages 6-12 months?

A
  1. Might not roll over.
  2. Might not bring hands together or to mouth.
  3. Might reach out with only one hand while keeping the other fisted.
87
Q

What are some symptoms of cerebral palsy occurring after the age of 12 months?

A
  1. Might not crawl.

2. Might not be able to stand with support.

88
Q

Describe the Dyskinetic cerebral palsies such as Dystonic and Athetoid cerebral palsies.

A

Dyskinetic Cerebral palsies -People with dyskinetic CP have problems controlling the movement of their hands, arms, feet, and legs, making it difficult to sit and walk. The movements are uncontrollable and can be slow and writhing or rapid and jerky. Sometimes the face and tongue are affected and the person has a hard time sucking, swallowing, and talking. A person with dyskinetic CP has muscle tone that can change (varying from too tight to too loose) not only from day to day, but even during a single day. These are global - affecting the total body and involve the basal ganglia.

89
Q

Describe the Spastic (stiff muscle type) cerebral palsies such as - Hemiplegia, Diplegia, Quadriplegia.

A

Spastic diplegia/diparesis―In this type of CP, muscle stiffness is mainly in the legs, with the arms less affected or not affected at all. People with spastic diplegia might have difficulty walking because tight hip and leg muscles cause their legs to pull together, turn inward, and cross at the knees (also known as scissoring).

Spastic hemiplegia/hemiparesis―This type of CP affects only one side of a person’s body; usually the arm is more affected than the leg.

Spastic quadriplegia/quadriparesis―Spastic quadriplegia is the most severe form of spastic CP and affects all four limbs, the trunk, and the face. People with spastic quadriparesis usually cannot walk and often have other developmental disabilities such as intellectual disability; seizures; or problems with vision, hearing, or speech.
These involve the motor cortex.

90
Q

Describe Ataxic cerebral palsy.

A

People with ataxic CP have problems with balance and coordination. They might be unsteady when they walk. They might have a hard time with quick movements or movements that need a lot of control, like writing. They might have a hard time controlling their hands or arms when they reach for something. This type involves the cerebellum.

91
Q

What are the symptoms of autism?

A
  1. Impaired social interactions
  2. Communication difficulties
  3. Lack of empathy/awareness of others
  4. Unusual, repetitive, or narrow and obsessive (“stereotyped”) interests and activities
  5. Symptoms must be present before age 3.
92
Q

Discuss the causes of autism.

A
  1. Growing evidence of genetic + environmental factors:
    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
  2. NOT caused by vaccines.
  3. Known genetic disorders/diseases that are highly correlated with autism:
    Fragile X syndrome
    Tuberous sclerosis
    Seizure disorders
93
Q

What are some signs in infancy that may point to autism?

A
  1. No babbling or pointing by age 1
  2. No single words by 16 months or two-word phrases by age 2
  3. No response to name
  4. Loss of language or social skills
    Poor eye contact
  5. Excessive lining up of toys or objects
  6. No smiling or social responsiveness
94
Q

What are some signs in childhood that may point to autism?

A
  1. Impaired ability to make friends with peers
  2. Impaired ability to initiate or sustain a conversation with others
  3. Absence or impairment of imaginative and social play
  4. Stereotyped, repetitive, or unusual use of language
  5. Restricted patterns of interest that are abnormal in intensity or focus
  6. Preoccupation with certain objects or subjects
  7. Inflexible adherence to specific routines or rituals
95
Q

What a some assessment tools for general pediatrics/family practice?

A
  1. ASQ - ages and stages questionnaires. This is a parent completed questionnaire recommended for all children 9, 18 and 30 months.
  2. M-CHAT - This is a parent completed questionnaire used to screen for ASD. Recommended for all children at 18 months and repeat at age 2 if equivocal.
96
Q

What does the ASQ assess?

A 
1. Questions address 5 categories:
Communication
Gross motor
Fine motor
Problem solving
Personal-social
  1. Easy to score and interpret, detects subtle delay well.
97
Q

Why is it so important to diagnose autism early and what can screening tool help?

A
  1. Early recognition and treatment can significantly improve functioning.
  2. Treatment consists mainly of intensive behavioral therapy.
  3. Screening tool: Modified Checklist for Autism in Toddlers (M-CHAT).
  4. M-CHAT should be performed on all 18 month olds.
98
Q

What are some therapies for children with neurodevelopmental disorders?

A
  1. speech therapy
  2. physical therapy
  3. occupational therapy
  4. behavioral/psychological therapies
99
Q

Speech therapy helps with what kinds of deficits?

A 
Articulation disorders
Expressive/receptive language delays
Pragmatic disorders (social language use)
Fluency/stuttering
Auditory processing disorder
Oral motor and feeding issues, dysphagia
100
Q

Physical therapy helps with what?

A
  1. gross motor skills

2. gait abnormalities

101
Q

Occupational therapy helps with what?

A
  1. fine motor skills
  2. sensory processing disorders
  3. self-help skills
102
Q

What resources for referral do we have here in Nevada for children with neurodevelopment disorders?

A
  1. Nevada Early Intervention Services
    Before age 3
    Physical/occupational therapy; speech evaluation/therapy; autism evaluations; genetics evaluations; nutrition counseling; social skills
  2. Child Find (School Districts)
    After age 3
    Speech/evaluation therapy; autism evaluations/therapy

Block 8 week 3 (9 decks)

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