The Genetics of Child Development

I. GENETIC FOUNDATIONS

A. The Genetic Code

l. Chromosomes: "colored bodies" carrying

genetic material

contained in the nucleus of all cells

except
red blood cells

Humans have 23 pairs (n = 46)

Chimpanzees have 24 pairs
Horses have 32 pairs
Mice have 20 pairs

2. Genes: multiple genes per

chromosome; most genes lead to
production of some protein. Genes
composed of:

1
 3. DNA (deoxyribonucleic acid): genes
differ
in length of the segments of DNA

--Double helix structure (twisted

ladder);
uncoiled set of 23 chromosomes would
be 3 feet long (in each cell)

--Sides of ladder: alternating sugar and

phosphate molecules in two threads
wound around each other.

--Ladder rungs consist of pairs of

nucleotides (nitrogen-based molecules)
attached to the sugar units of the sides:

Adenine (A) paired with Thymine (T)

Cytosine (C) with Guanine (G)

--sequence of pairings determines the

genetic instructions

--chromosome 1 has 263 million bases;

smallest (chrom. 21) has 50 million
2
bases (Human Genome project)

3
 4. Karyotype: depicts homologous pairs
(except for the XY pair in males)--in
humans, 22 of the pairs are known as
autosomes, and l pair are sex
chromosomes.

5. Gametes: sex cells (egg, sperm)

contain only 23 chromosomes each

6. Mitosis: process by which DNA

duplicates
itself

--DNA ladder splits down the middle,

leaving each exposed base free to pick
up
its complementary mate from the cell
cytoplasm

--sister chromatids attached at

centromere then separate during cell
division

e.g., Zygote (fertilized egg) replicates in

4
first 24 hours

5
7. Meiosis: process by which gametes, or
sex cells are formed

--Cell with 46 chromosomes replicates

itself (but doesn't split from sister
chromosome)

--Crossing Over: pairs of chromosomes

exhange corresponding segments to
create new genetic combinations

--Cell then divides, then divides again to

leave 4 cells with 23 chromosomes
each

8. Alleles: the different forms/versions of

each gene (e.g., Brown-eye, blue-eye,
green-eye, etc.)

--occur at the same locus on the

autosomes, one each from mother and
father

6
 9. Genotype: one's genetic inheritance
(e.g., BB or Bb or bb for eye color)

homozygous: having same two alleles

for a trait (e.g., BB or bb)

heterozygous: having two different

alleles
for a trait (e.g., Bb)

10. Phenotype: one's expression of a trait

(e.g., Brown eyes vs. blue eyes)

11. Monozygotic Twins share a genotype

(mono- = one zygote); dizygotic (fraternal)
twins do not

7
II. GENETIC INHERITANCE

A. Autosomes:
1. Dominant Traits: supercede expression
of recessive traits

2. RecessiveTraits: Exhibited only when

inherit two alleles (only one allele makes
one a carrier)

Dominant Recessive
Brown eyes Gray, green, blue
Curly hair Straight hair
Brown hair blond or light hair
Non-red hair (BR,bl) Red hair
thick lips thin lips
dimples no dimples
farsightedness normal vision
Rh-positive blood Rh-negative blood

8
3. Co-dominance: With some traits, a
combination of the alleles is phenotypically
expressed, as with AB blood.

Dominant Recessive
Type A blood Type O
Type B blood Type O

4. Polygenic inheritance: More than one

gene influences expression of a trait, such
as intelligence and height

9
5. Dominant & Recessive disorders:

a. Dominant

--Huntington's chorea: occurs 35-40

years of age, causes brain
deterioration loss of motor
control,
memory, personality, etc.

--Familial Alzheimer's

--Marfan's syndrome

b. Recessive

--Albinism

--Congenital deafness

10
 --PKU, or phenylketonuria (chrom. 12)
1 in l0,000 births

lack the ability for the liver to

produce the enzyme
phenylalanine
hydroxylase, that converts a
amino acid phenylalanine into

tyrosine

toxic excess of phenylalanine

builds up in nervous system,
leading to symptoms by 3-5
months; death by 4 without
dietary restrictions

phenylalanine is amino acid in

protein, and is found in milk
products, eggs, meat, poultry,
legumes, nuts, wheat & oats

11
 --Galactosemia (chr. 9, 17, 1—depends
on enzyme missing)

lack enzyme to convert galactose

(from lactose in milk) into glucose.
Buildup in tissues causes mental
retardation, cataracts, enlarged liver,
& kidney failure

Detection prenatally + newborn

--Cystic Fibrosis (chrom. 7)

most common genetic disease
among Caucasians (1 in 3000;
4-5% of Americans are carriers; caused by
a change in single nucleotide, or one
letter
error)

respiratory tract becomes clogged

with mucus, increases risk of
infection (death by mid-20s)

secretions also obstruct pancreas,

leading to dietary problems; salty
tasting skin
12
 --Tay-Sachs disease (chrom. 15)
highest incidence in Ashkenazic
Jews

mental retardation, blindness,

deafness, and paralysis begin
around 6 months of age; death
normally occurs by 3-4 years

due to absence of an enzyme, Hex-

A
(Hexosamindase-A), which allows a
lipid to accumulate in brain

--Sickle cell anemia (chrom. 11)

incidence highest in
African/Americans

caused a change in a single amino

acid in hemoglobin, which prevents
some blood cells from carrying
oxygen, leading to a crescent shape

Oxygen depletion from exercise,

plane
13
 cabins, etc. leads to painful sickling
of
blood cells. Heterozygotes show
protection from malaria.

14
B. Sex-linked Inheritance

1. Y-linked Inheritance:

--Hairy ears

2. X-linked Inheritance: often recessive

genes on X-chromosome

Males have higher probability of phenotypic

expression than females.
--Red-green color blindness

--Hemophilia (detectable prenatally)

--Duchenne muscular dystrophy

--Lesch-Nylan disease
buildup of uric acid leads to
accumulation of salt crystals in
CNS, joints, kidneysrecurrent
vomiting, cerebral palsy,
mental
retardation, self-mutilation & death

15
 --Fragile X Syndrome: a genetic
disorder
resulting in multiplication of part of
genetic code, resulting in a
“pinched” long leg on the X-
chromosome -on long arm of
X, the triplet CAG
replicated 20-30 times; if replicated
over 50 times (up to 200), leads to
Fragile X-type symptoms (DeSalle
& Lindley, 1997)

incidence in 1 in 1000 births

most common genetic form of

mental retardation

16
 facial deformities (large ears,
prominent jaw, long narrow face),
and
large testes in males

affected females may show reduced

intelligence, though most are normal

possible link to infantile autism

17
Food for thought:

Male fetuses are more likely than female

fetuses to be aborted, stillborn; infant and
childhood mortality is greater for males, as is
the rate of learning disabilities, behavioral
disorders, and mental retardation. This may be
due to genetic disorders (especially X-linked).

However, a greater number of boys are

conceived, and there are l06 male births for
every l00 females.

18
III. CHROMOSOMAL ABNORMALITIES

Risk factors: Advanced Maternal Age

(sometimes advanced Paternal age)

--many caused by a glitch in meiosis

http://gslc.genetics.utah.edu/units/disorders/karyotype/

A. Autosomal Abnormalities

l. Down's Syndrome (Trisomy 2l)

--Incidence: 1/700 live births

19
--Physical features: ipicanthal fold of
eye, flattened facial features, poor
muscle tone, short stature, and short
broad hands with an unusual crease in
palms; excess
skin on back of neck

--Internal traits: congenital heart

defects, cataracts/visual impairments,
deficiencies in immune system leading
to susceptibility to infection and
leukemia

--Shortened life expectancy; those who

live to over 35 typically develop the
same neuro-physiological and
-psychological symptoms as Alzheimer's
patients

20
--Cause: failure of chromosome 2l to
segregate during meiosis. Down's
syndrome children show a mosaicism--
extra chromosomal material appears in
only some cells; degree of impairment
related to number of cells affected.

--Theories: Older Egg vs. “Relaxed

Selection” hypotheses.

21
2. Edward’s Syndrome (Trisomy 18)
--Incidence: 1/5000-6000 live births;
predominantly females

--80-90% mortality rate by age 2

--Severe mental retardation; elfin

facial features (small nose & mouth,
receding chin, abnormal ears);
hearing loss; seizures; hypoglycemia

22
23
3. Patau Syndrome (Trisomy 13)
--Incidence: 1/20,000 live births

--High mortality rate in 1st year

--Cleft lip & palate; congenital

heart defects; polydactyl; severe
mental retardation

24
25
 4. Cri-du-Chat (missing short arm of chr.
5)
--Incidence: 1 in 50,000 births;
Possibly normal life expectancy.

--Catlike cry; microencephaly;

congenital heart disease; severe
mental retardation; may be missing
kidney/s; sensitivity to loud noises;
26
low birth weight, partial webbing of
fingers or toes

--later, protuding teeth (normal sized

teeth in small head); curvature of spine;
developmental & language delays;
possibly self-mutilation & rocking

27
B. Sex Chromosome Disorders

l. Turner Syndrome: X0

--Females in which one X-chromosome

(or part of it) is missing.

Incidence: l in l200-2500 females (90%

are spontaneously aborted).

--May not be detected until puberty,

when secondary sex characteristics
& menstruation do not develop.
28
 --Ovaries do not develop prenatally, the
girls maintain a very immature
appearance: Short stature (57 inches
average), a webbed neck. Increased
risk of fractures, strokes, diabetes &
cardiovascular problems.

--Hormone therapy may increase height

and induce menstruation; occasionally
pregnancy accomplished through in
vitro
fertilization.

--Intelligence is often near average,

although with severe deficits in spatial
ability and directional sense (perhaps
due to smaller amounts of brain tissue—
grey & white--in parietal lobes; Reiss,
1995).

29
 2. Triple X Syndrome: XXX
Incidence: 1 in 500-1200 female (?)

--Normal sexual development

--delays in language development, lack

of
motor coordination, poor academic
performance, and immature behavior.

30
 3. Klinefelter's Syndrome: XXY males

--Incidence: One in every 500-l000

births

--absence of development of male

secondary sex characteristics (facial
hair, deepening voice, increased muscle
structure) at puberty.
31
 --Underdeveloped testes & sterile (may
institute hormone therapy); Female-like
fat
distribution, and potential breast
development at puberty
32
 --Tall, and tend to be overweight.

--Cognitive deficits: expressive

language delays in development, poor
auditory
STM, reading difficulties, about 20%
have
mild to moderate retardation

--self-esteem problems; prefer quieter

pursuits

33
 4. Jacob’s Syndrome: XYY

--Incidence: One in 2000 males.

--Above-average height, large teeth,

and
sometimes severe acne

--Overrepresented in prison populations

(popular defense for a while), but not
necessarily more aggressive
[Representation in prisons possibly
due to decreased intelligence

34
IV. METHODS OF PRENATAL TESTING

A. Non-invasive techniques

1. Genetic Counseling
--Information on a person's family tree is
gathered to ascertain the risk of certain
diseases.

--Genetic screening can be carried out

on
parents to determine their genotype for
given disorders (e.g., Cystic Fibrosis,
Tay
Sachs, sickle cell anemia).

35
 2. Triple Screen Test
(15th-16th medical weeks, up to 18th)

--Maternal blood test measures:

Alpha-feta protein (from fetal liver)

Estriol
hCG (human Chorionic Gonadotropin)
(inhibin A—increases detection of Down’s)

--high levels of Alpha-feta protein may

indicate neural tube defect (or baby is
older
than thought, or (!) twins). 75-85% detection

--high levels of hCG, with low levels of estriol

& AFP, indicate elevated risk for Down’s
Syndrome. 60% detection in women < 35;
75% in women > 35

--low levels of all 3 may indicate higher

risk for trisomy 18 Edward’s syndrome)

--HIGH risk of “false positive” (46% in an

online poll of 23, 470 parents), and some
risk of false negatives

36
 3. Ultrasound (up to delivery)
--High frequency sound waves are
beamed into the uterus, and their
reflection reveals the size, shape, and
position of the fetus.

--a STRUCTURAL measure used to

monitor fetal growth, estimate
gestational
age, detect multiple pregnancies,
depict placement of placenta, and
detect
gross structural abnormalities

--can be done abdominally or

transvaginally

Figure 1 - Fetus with subcutaneous collection of fluid at the back of the

neck (often seen in Down’s Syndrome fetuses & those with other trisomies).

37
Image kindly provided by Dr Eva Pajkrt, University of Amsterdam.

38
--growth abnormalities sometimes
indicative of genetic & chromosomal
abnormalities

--historically, has been claimed that

there are no known risks. However,
several studies in 1990s found:

-increase in left handedness in men,

indicating subtle brain damage (32%
increase with two pregnancy scans;
Swedish study)
39
 --cell damage due to :
-tissue heating (Uhlig, 1999)
-cavitation—sound waves may
cause bubbles to form & expand

--reduced fetal weight, fetal organ

weight, birth rate, decreased
immune system functioning,
problems with blood platelets,
have been noticed in humans & other
species exposed to ultrasound
http://educate-yourself.org/cn/2001/ ultrasoundandbraindamage19dec01.shtml

B. Invasive Techniques
*Usual analysis is for Chromosome
abnormalities; genetics analysis done
only
if risk factors for a disease are present

--95% of fetuses examined are normal

40
1. Chorionic Villa Sampling
(10-13 medical weeks)

--Chorion is the fetal membrane that will

form the fetal side of the placenta

--a tissue sample is removed from

chorion by pushing narrow needle in
15-20 times

--Complications:
-1-2% risk of inducing miscarriage

-may interfere with vascularization

--> limb deformities

-Mosaicism a problem for females

41
2. Amniocentesis
(14-16th medical weeks)

--Fetal cells are extracted from the

amniotic fluid and cultured for
chromosome/genetic analysis

--Complications:
-Risk is .33-.5% (1/300 to 1/200) for
inducing miscarriage [hence
benchmark of age 35, where
risk of any chromosome
abnormality is 1/180]

-Risk is even higher with early

amniocentesis (11-14th weeks)

-Rh- mothers need Rhogam

because of risk of co-mixing
blood of mother & baby

42
3. Fetoscopy
(18-22 medical weeks, or after 16th)

--miniature telescope-like instrument w/

light & lenses inserted into tiny incision
into amniotic sac

--can detect structural deformities

--Blood samples taken from junction of

umbilical cord/placenta, and/or tiny bit of
fetal or placental tissue removed

--Complications:
-up to 12% risk of inducing
miscarriage

-up to 47% risk of rupturing

membranes, necessitating
pre-term delivery

-Rh- mothers need Rhogam

risk of co-mixing
blood of mother & baby

43
V. HEREDITY INFLUENCES on
BEHAVIOR

A. Estimating Hereditability
1. Hereditability refers to the extent
that individual differences within some
population are due to genetics
(e.g., hereditability for having 2 eyes is
0.00—having two eyes is clearly based on
genes, but no individual differences)

2. Concordance Rates & Correlations

--Determine hereditability by measuring
a trait in individuals with shared genes and/or
shared environments:
Biological parents, siblings
Identical twins, raised together or apart
Fraternal twins, raised together or apart
Adoptive parents & adopted child
Biological parents & adopted child

3. What does the Correlation mean?

Correlation of r = 0.70; if squared,
provides amount of variance due to genetics = .
49 (or 49%)

44
 4. Many personality traits (e.g.,
Intro/Extroversion & Empathy) and Intellectual
Traits/skills clearly have an inherited
component.
Average Correlations between IQ scores
(Bouchard & McGue, 1981; *Pederson et al, 1985; **Segal, 2000)

Family Pairs Raised Raised

Together Apart
Identical Twins .86 .72

Fraternal Twins .60 .52*

Biological Siblings .47 .24

Biological Parent & Child .42 .22

Half Siblings .31 --

Adopted Siblings .34 --

Adoptive Parent & Adopted Child .19 --

Unrelated siblings (same age, same home) .26** --

Hereditability of Temperament: Correlations of Angry Emotionality (Plomin

et al., 1988)

Raised Together Raised Apart

Identical Twins .37 .33

Fraternal Twins .17 .09

45
Hereditability of Certain Traits from Minnesota Twin Study
(Bouchard et al., 1990)
0.9
0.8
0.7
0.6
0.5
0.4
0.3
0.2
0.1
0
Heig. Weig. S ys. BP IQ Person. Relig. S oc. Att.

Height Syst. BP Personality Social Attitudes

Weight IQ Religiosity

46
 5. However, environment also impacts
almost all inherited skills or traits.
Gene Environment Interactions: Odds of Depression at age 26
(Caspi et al., 2003)

0.45
0.4
0.35
0.3
2 hi-risk genes
0.25
Heterozygous
0.2
2 protective genes
0.15
0.1
0.05
0
0 1 2 3 4

Number of Stressful Childhood Events

47
B. Interaction of Genes & Environment

l. Canalization (Conrad Waddington): the

degree to which a trait is constrained by
genetics. Some traits (e.g., crawling) more
canalized than others (e.g., playing soccer).

Think of a river (a child's development)

seeking its course over terrain. Deeply
canalized sections will mold the river;
shallower sections will be molded BY the
river.

Some traits may be heavily canalized early

in
development (e.g., language development),
but less so later on (e.g., reading ability).

2. Range-of-Reaction (Gottesman, 1963):

Genes set boundaries & establish a range
of reactions; because of different
genotypes,
individuals will respond differently to the
same environment

48
3. Niche-picking (Scarr & McCartney,
1983): Genotype contributes propensities
toward certain skills and abilities, and we
then seek activities which are compatible
with our genetic endowment.
(Active Genotype/Environment interaction)

4. Correlations between genetics and

environment can also occur:

a. Passively, as when parents set up an

environment consistent with their (and their
child's) predispositions (e.g., sociability); or

b. Evocatively, as when a child’s traits

influence the behavior of those around
him/her (e.g., if a shy child is less engaged)

49