Hendrickson: Developmental Problems of Early Childhood Flashcards
Neurodevelopmental disorders can be divided into these three major categories
prenatal
perinatal
postnatal
T/F: Any significant health or social crisis early in life—even if not directly related to the nervous system—increases risk of developmental delay, disability, and behavioral problems if it affects oxygen, nutrition, or causes prolonged stress.
True
What are these associated with?
Genetic and metabolic disorders
Congenital malformations
Drug exposures
TORCH infections
prenatal events/injuries
Most common chromosomal abnormality; 1:1000 newborns, risk increases w maternal age; mild to moderate intellectual disability
Trisomy 21 - Down Syndrome
Major physical features notable in a child with Down Syndrome?
palmar crease
broad, flat face
slanting eyes, short nose
Particularly important complication of Trisomy 21
congenital heart disease
**diagnose via ECHO
Most common form of inherited intellectual disability in BOYS; 1:4000 males, 1:8000 females; delayed speech, intellectual disability, delayed speech, ADD, autism; X-linked dominant inheritence
Fragile X syndrome
What causes Fragile X syndrome on a genetic level?
mutation in FMR1 gene (expansion of CGG triplet repeat) which silences the gene and disrupts nervous system function
Two important factors to keep in mind with children with Fragile X syndrome?
hypotonia - low muscle tone
seizures - in about 10% of pts
Affects only girls; 1:10,000; often misdiagnosed as autism or cerebral palsy
Rett syndrome
Describe the course/progression of Rett syndrome
child is normal until ~6-18 months, then deteriorate;
very disabled by age 3;
lose ability to speak, walk normally and use hands in purposeful way
What is one classic motion seen in girls with Rett syndrome?
hand wringing
What is wrong genetically in Rett syndrome?
MECP2 mutation (disrupts normal function of many genes important for brain development)
What happens to boys with Rett syndrome? How long do girls live?
they don’t survive :(
girls live to their 40’s or 50’s
Caused by mutation in PAH gene; autosomal recessive inheritance; Increased phenylalanine in blood due to lack of phenylalanine hydroxylase; nerve cells in brain particularly vulnerable; controlled primarily thru diet
PKU
Symptoms of untreated PKU?
intellectual disability musty odor seizures tremors or jerky movements hyperactivity lighter skin, hair, eye color than their family members
Occurs when thyroid gland fails to develop properly (80-85% of cases) or function normally (genetic, or mom’s diet low in iodine).
1:3000-4000 newborns
80-85% cases sporadic; 15-20% inherited (most autosomal recessive).
congenital hypothyroidism
What causes congenital hypothyroidism on a genetic level?
can be caused by multiple gene defects;
defects in PAX8 or TSHR
How to treat congenital hypothyroidism?
levothyroxine
When do symptoms of congenital hypothyroidism appear? What do newborn screens check for in terms of thyroid function?
3-4 weeks; TSH/T4
What are some features of untreated congenital hypothyroidism?
intellectual disability poor feeding FTT coarse facial features, swollen tongue wide, short hands constipation hearing loss jaundice fatigue hypotonia bradycardia
50% of all muscular dystrophy cases.
X-linked recessive inheritance, so affects mostly boys; sons of women carriers have 50% chance of disease.
Caused by defective gene for dystrophin (a muscle protein) at Xp21. Check creatine kinase.
1:3500 boys.
Symptoms begin before age 6; rapid progression.
DMD
Signs/symptoms of Duchenne muscular dystrophy?
frequent falls
waddling gait
difficulty rising from sit (Gower’s sign)
intellectual, behavioral, speech, vision probs
DMD patients usu lose their ability to walk by age (blank) and undergo respiratory failure/death by age (blank)
12; 40
Defects in brain, spine, or spinal cord caused by neural tube not closing properly during gastrulation (first trimester).
neural tube defects
Risk factors for neural tube defects?
maternal folate and B12 deficiency
maternal obesity/diabetes, hyperthermia (going in the hot tub during 1st trimester)
cigarette smoking
2 ways to diagnose neural tube defects?
serum alpha-fetal protein in mother
prenatal ultrasound
Most common neural tube defect (1:2800); usually in lumbar/sacral region
spina bifida
Identify these forms of spina bifida:
- 10-20% of population
Usually asymptomatic, found incidentally or due to skin defect - Least common form
Treated surgically, often no sequelae - Paralysis and loss of sensation below lesion; bowel/bladder issues
Brain abnormalities and intellectual deficits common
Physical and
- occulta
- meningocele
- myelomeningocele
Most common cause of intellectual disability in U.S.
fetal alcohol syndrome
What happens to babies with fetal alcohol syndrome? How do they look?
brain damage :( including learning disabilities, low IQ, impulse control, ADHD, memory problems;
distinct facial features - smooth philtrum, thin upper lip, small eye openings
Most commonly used illicit drug in pregnancy; significant neuroteratogen in pregnancy and lactation; effects are dose-dependent
marijuana
Marijuana exposure in utero is linked to the following conditions
ADHD cognitive impairment altered emotional responses growth retardation motor delays
What happens to babies of mothers who abuse opiates (heroin, methadone, rx painkillers)? How do you treat it?
when they are born they have a sudden withdrawal (depends on the mother’s dose); treat with opiates for baby and then wean them off of it
What is the biggest risk for babies of mothers who abuse cocaine/methamphetamine? Are there any infant withdrawal symptoms or known birth defects?
neglect and abuse by parents; no
Tobacco use can cause the following problems in utero…
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’s a TORCH infection?
infection acquired by mother during pregnancy and passed to infant across the placenta during birth
List the TORCH infections
Toxoplasmosis Other *syphillis, HIV, VZV, parvo B19 Rubella CMV Herpes
Prematurity is defined as delivery before (blank) weeks
37
Risk factors for premature birth
low or high maternal age African Americans poverty infection HTN multiple gestation smoking, EtOH stress, late prenatal care
Early problems with premies?
respiratory issues (RDS and apnea) feeding difficulties jaundice sepsis necrotizing enterocolitis
Long term problems in premies?
cerebral palsy developmental delay chronic lung disease ADHD vision probs hearing probs
T/F: Even late premies (34-37 weeks) have higher rates of school problems, behavior/attention problems
True
Brain injury caused by impaired cerebral blood flow/lack of oxygen.
Most common in full-term infants.
Area of the brain affected determines symptoms.
Mortality 50-75%.
Almost all survivors have significant disability.
hypoxic ischemic encephalopathy
Risk factors for hypoxic ischemic encephalopathy?
maternal HTN cephalopelvic disproportion prolapsed umbilical cord tight nuchal cord placental or uterine abruption fetal stroke
Occurs in
Brachial plexus injury
Injury to C5-C6
Paralysis of deltoid, biceps, brachialis muscles
Erb’s palsy
Blood infection in first 90 days: Early onset (3 days) 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
Neonatal sepsis
(blank) incidence/mortality has dropped dramatically with maternal screening, intrapartum antibiotics.
Group B strep
T/F: Incidence of meningitis in bacteremic neonates is 23%.
True
Injury to basal ganglia and brainstem caused by extreme, untreated hyperbilirubinemia.
Initial symptoms: lethargy, poor feeding, irritable, hypotonia, seizures.
Later symptoms: intellectual disability, problems with movement, vision, hearing.
Bilirubin is neurotoxic, easily passes through newborn blood-brain barrier.
kernicterus
What are some risk factors for more severe jaundice in babies? How to treat it?
RBC antigen incompatibilities and prematurity; phototherapy or exchange transfusion …just put the baby in some sun!
Serious brain injury resulting from forcefully shaking infant or toddler.
Results in permanent brain damage (80%) or death (20%)
abusive head trauma “shaken baby syndrome”
The risk of child abuse and neglect is much higher
among families living in (blank).
poverty
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 (blank) have increased risk of lifelong social, psychological, health problems.
3
Infants of (blank) mothers have less social engagement, more negative emotionality, more trouble regulating emotion, and higher cortisol reactivity vs. controls. The infant’s stress response system (HPA axis) is permanently altered by maternal (blank) or other situations that expose infant to “toxic stress.”
depressed; depression
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.
More common in boys, African-Americans, premies.
Usually diagnosed by age 2-3.
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.
Cerebral palsy
Most kids with cerebral palsy are (blank) - they have tight muscles
spastic
What are some signs of cerebral palsy prior to 6mos? Between 6-12 mos? >12mos?
stiff or floppy when held, legs scissor over each other;
might not roll over or bring hands to mouth, fisted hands;
might not crawl, can’t stand w/o support
Worrisome signs for autism?
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
Recommended for all children at 9, 18, and 30 months; parent-completed questionnaire
Ages & Stages Questionnaires
Recommended for all children at 18 months; repeat at age 2; parent-completed questionnaire
M-CHAT
What are 5 categories addressed by the Ages and Stages Questionnaire?
communication gross motor fine motor problem solving personal-social
