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
