Exam 12: Prenatal Disorders Flashcards
1
Q
what determines a prenatal disorder
A
- chromosomal disorder present at birth
- the problem arose in the womb before birth
- causes occur BEFORE birth or are present at conception
2
Q
neural tube or other embryonic development defects
A
- spina bifida
- anencephaly or microcephaly
- heart/ organ defects
3
Q
Teratogen Exposure
A
- first 12 weeks can be most dangerous
- physical or chemical substance that may cause physical or developmental complications to the fetus
- factors: type of agent, amount of exposure, point at which exposure occurs
4
Q
Types of Teratogens
A
- prescription meds & toxins
alcohol (the most damaging permanently): FAS - drugs: cocaine, heroine, stimulants, marijuana
- infection: toxoplasmosis, chicken pox/ measles, influenza, Zika Virus, etc.
5
Q
chromosomal defects in duplication (present at conception)
A
- down syndrome (trisomy 21, 3 copies of chromosome 21 instead of a pair)
- Fragile X Syndrome (abnormal or “fragile” X chromosome)
- Other Trisomies (13 & 18; typically fatal)
6
Q
genetic inheritable disorders (present at conception)
A
- cystic fibrosis
- sickle cell anemia
- tay sachs
- etc. (some cause intellectual disabilities & some do not)
7
Q
achondroplasia or dwarfism
A
- cartilage does not ossify into bones
- arrested or stunted growth
- physical features
- large, protruding forehead and short, thick arms and legs on a relatively normal trunk
- often have elbow flexion contractures, short fingers
8
Q
genetic disorders
A
- Cri du Chat
- Rhett & Williams Syndromes
- Fragile X
- Prader-Willi Syndrome
- Down Syndrome
9
Q
Cri du Chat Syndrome
A
- rare dx
- caused by absence of part of chromosome 5
- child has weak, mewling cry
- microcephaly
- widely spaced, down slanting eyes
- cardiopulmonary problems
- failure to thrive
- ID
- 1 in 20,000-50,000 babies are affected
10
Q
Rhett Syndrome
A
- no deficits noted at birth
- genetic, often misdiagnosed as Autism, CP
- mostly in females
- children lose acquired skill around 18 months
- motor movement involved
- degenerative
11
Q
Williams Syndrome
A
- facial features noticeable early on
- overly social with poor boundaries
- cognitive impairments and ADHD
- other physical issues with multiple systems
- lower IQ, overly trusting, very social
12
Q
Fragile X Syndrome
A
- boys > girls
- elongated faces, prominent jaws and foreheads, hypermobile joints, flat feet
- may have ID
- impairment can range from learning disabilities to more severe cognitive disabilities
- seizures, visual disorders, can occur with autism diagnosis
- have some intact or higher level skills: imitation, memory, reading & humor
13
Q
Prader-Willi Syndrome (physical)
A
- narrow temple distance and nasal bridge
- almond-shaped eyes
- mild strabismus
- thin upper lip
- downward turned mouth
- overweight
14
Q
Prader-Willi Syndrome
A
- involves chromosome 15
- varying degrees of ID
- overeating
- self mutilating behaviors
- picking at sores, biting fists
- early developmental milestones are delayed
- initially present with difficulty feeding and subsequent failure to thrive in the first year of life (difficulty eating)
- hypotonia, poor sucking reflex, diminished or absent cry
- after first year, there is a transition to hyperphagia
- by school age, food-seeking behavior becomes increasingly difficult to control
- Pica
15
Q
Down Syndrome
A
- 1 of 200 infants born to women under 40 y/o; 1 of 40 infants for to women 40 y/o +
- extra 21st chromosome
- shortened limbs and fingers (clubbed, poor thumb opposition)
- slanted eye fold over nasal corners of the eyes
- small mouth, protruding tongue (difficulty sucking)
- straight line across the palm of hand (simian line)
- ID (mild or moderate)
- increased gag reflex
- at about 40 y/o, experience dementia similar to AD
