Developmental Issues and Tasks Flashcards
(170 cards)
Cause: Extra copy of chromosome 21.
Physical features: Flattened face, almond-shaped eyes, short neck, small ears, single crease across the palm.
Cognitive/developmental: Mild to moderate intellectual disability, delayed speech and motor skills.
Health issues: Heart defects, hearing loss, thyroid problems, risk of leukemia and Alzheimer’s
Down Syndrome (Trisomy 21)
Cause: Male has an extra X chromosome.
Physical features: Taller than average, reduced muscle mass, sparse facial/body hair, small testes.
Cognitive/developmental: Learning difficulties, especially with language; may have social challenges.
Health issues: Infertility, low testosterone, osteoporosis, possible breast development (gynecomastia).
Klinefelter Syndrome (XXY)
Cause: Mutation on the FMR1 gene on the X chromosome.
Physical features: Long face, large ears, prominent jaw/forehead, flat feet.
Cognitive/developmental: Moderate to severe intellectual disability, speech delays, autism-like behaviors.
Behavioral traits: Anxiety, hyperactivity, poor eye contact, repetitive actions.
Fragile X Syndrome
Cause: Female is missing one X chromosome or part of it.
Physical features: Short stature, webbed neck, low hairline at the back of the neck, broad chest.
Cognitive/developmental: Normal intelligence, but may struggle with spatial reasoning or math.
Health issues: Ovarian failure (infertility), heart and kidney problems, delayed puberty.
Turner Syndrome (XO)
Cause: Male has an extra Y chromosome.
Physical features: Taller than average, often normal appearance.
Cognitive/developmental: Usually normal intelligence; may have learning difficulties and delayed speech.
Behavioral traits: Sometimes associated with impulsivity or attention issues.
Jacob’s Syndrome (XYY)
Cause: Extra chromosome 18.
Physical features: Small head and jaw, clenched fists with overlapping fingers, rocker-bottom feet.
Cognitive/developmental: Severe intellectual disability, growth deficiency.
Health issues: Major heart and organ defects; most infants do not survive beyond the first year.
Edward’s Syndrome (Trisomy 18)
Cause: Extra chromosome 13.
Physical features: Cleft lip/palate, small or missing eyes, extra fingers/toes (polydactyly).
Cognitive/developmental: Severe intellectual and physical disabilities.
Health issues: Heart defects, brain abnormalities; very low survival rate (many die within weeks or months).
Patau Syndrome (Trisomy 13)
Overproduction of mucus in the lungs and digestive tract
Cystic Fibrosis
Does not produce enough insulin
Diabetes
Delayed blood clotting
Hemophilia
CNS deteriorates producing problem in muscles and mental decline
Huntington’s
Build up of Phenylalanine in the body
Phenylketonuria
Limits body oxygen supply
Sickle-Cell Anemia
Incompletely closed spinal canal
Spina Bifida
Accumulation of lipids in the NS
Tay-Sachs Disease
Absence of brain tissue
Anencephaly
Enlarged kidneys
Polycystic Kidney Disease
Cirrhosis of the liver in early infancy
Alpha antitrypsin Deficiency
Severe anemia; nearly all die soon after birth
Alpha Thalassemia
Sever Anemia; fatal in adolescence or young adulthood
Beta Thalassemia (Cooley’s Anemia)
Males with muscle weakness, minor mental retardation
Duchenne Muscular Dystrophy
difficulty controlling muscle movements
Cerebral Palsy
weigh less than 5 pounds and 8 ounces at birth
Low Birth Weight Infants
less than 3 pounds 4 ounces
Very Low birth weight