Early Influences on Development - Prenatal Development Flashcards
Which 3 disorders are due to a chromosomal deletion?
- Prader-Willi Syndrome
- Angelman Syndrome
- Cri-Du-Chat Syndrome
Prader-Willi syndrome is most often caused by ________. Its symptoms vary but often include:
- a deletion on the paternal chromosome 15
- hypotonia (poor muscle tone)
- global developmental delays
- hyperphagia (chronic overeating)
- hypogonadism
- intellectual disabilities
- skin-picking and other self-injurious behavior
- physical characteristics (a narrow forehead, almond-shaped eyes, short stature, and small hands and feet)
Angelman syndrome is usually due to ________. Its symptoms also vary and may include:
- a deletion on the maternal chromosome 15
- microcephaly (small head and brain),
- a wide jaw and pointed chin
- severe developmental delays
- communication and intellectual disabilities
- hyperactivity
- a tendency to be unnaturally happy
- ataxia
- seizures
- hand-flapping
Cri-du-chat syndrome is caused by ________. Its symptoms range from mild to severe depending on the extent and location of the deletion and include:
- a deletion on chromosome 5
- a high-pitched (cat-like) cry
- intellectual disability
- developmental delays
- microcephaly
- low birth weight
- weak muscle tone
- characteristic facial features (e.g., widely set eyes, low-set ears, round face)
Which 3 disorders are due to sex chromosome abnormalities?
- Klinefelter Syndrome
- Turner Syndrome
- Rett Syndrome
Klinefelter syndrome affects ________and is due to the presence of ________ X chromosomes in addition to ________ Y chromosome.
- males
- two or more
- a single
Males with Klinefelter syndrome develop a ________ identity but have ________, ________, and ________.
- normal male
- incomplete development of secondary sex characteristics
- gynecomastia (breast enlargement)
- a low testosterone level
Symptoms of Klinefelter syndrome include:
- disproportionately long arms and legs
- taller than normal
- delays in language development
- learning disabilities
- impaired problem-solving and social skills
- incomplete development of secondary sex characteristics (w/ gynecomastia, low testosterone)
Turner syndrome affects ________ and occurs when ________.
- females
- all or part of an X chromosome is missing
Females with Turner syndrome:
- don’t develop secondary sex characteristics and are infertile
- have a short stature, stubby fingers, drooping eyelids, a receding or small lower jaw, and a web-like neck.
- have learning disabilities
- vision and hearing problems
- skeletal abnormalities
- heart defects
- kidney and urinary tract abnormalities
Rett syndrome (RTT) is an ________ disorder that is usually caused by ________ and almost exclusively affects ________.
- X-linked dominant
- mutations in the MECP2 gene
- females
Infants with Rett syndrome (RTT) appear to develop normally during the first ________ months of life but then develop characteristic symptoms that include:
- 6 to 18
- slowed head and brain growth
- loss of speech and motor skills
- abnormal hand movements
- sleep disturbances
- breathing abnormalities
- seizures
Children with Rett syndrome may also have ________ during the early stages of the disorder.
autistic-like symptoms (e.g., deficits in social interactions)
Down syndrome is an ________ disorder, which means it’s caused by ________.
- autosomal
- an abnormality on a chromosome that’s not a sex chromosome
What are are the three types of Down syndrome?
1) Trisomy 21 (95% of cases) - occurs when there is an extra 21 chromosome in all cells of the body
2) Mosaic trisomy 21 (1% of cases) - occurs when only some cells in the body contain an extra 21 chromosome
3) Translocation trisomy 21 (4% of cases) - occurs when some cells have a full or partial chromosome 21 attached (translocated) to another chromosome, most often chromosome 14.
The symptoms of Down syndrome include:
- intellectual disability (usually mild to moderate)
- hypotonia (decreased muscle tone)
- a short stocky build; a wide face, thick tongue, and almond-shaped eyes
- developmental delays
- elevated risk for vision and hearing problems, heart defects, hypothyroidism, and Alzheimer’s disease.
With regard to etiology, trisomy 21 and mosaic trisomy 21 are both caused by ________.
an error during cell division
Older maternal age increases the risk of having a baby with trisomy 21 and possibly mosaic trisomy 21, with the risk increasing sharply after ________.
30 years of age
The risk for translocation trisomy 21 is ________ by maternal age, and it can be due to ________ or ________.
- not affected
- an error during cell division
- can be inherited from a parent carrier
Huntington’s disease is ________ disorder, which means it is caused by ________. When one parent has Huntington’s disease, a biological child of that parent has a ____ chance of inheriting the disease; when both parents have Huntington’s disease, their biological child has a ____ chance of inheriting the disease
Genetic disorders
- an autosomal dominant
- a single autosomal dominant gene
- 50%
- 75%
Phenylketonuria (PKU) is ________, which means it is caused by ________. In other words, it occurs when a biological child inherits the PKU gene from both parents and, consequently, is ________ with regard to that gene.
- an autosomal recessive disorder
- two autosomal recessive genes
- homozygous
A person with PKU is unable to adequately metabolize the amino acid ________. Consequently, treatment is ________ that begins soon after birth and is maintained through the lifespan (e.g., no milk, cheese, meat, fish, or eggs). Without treatment, the build-up of ________ causes:
- phenylalanine
- a diet low in phenylalanine
- phenylalanine
- intellectual disability
- hyperactivity
- seizures
- eczema
- a musty body odor
- hypopigmentation
- stunted growth.
Prenatal exposure to alcohol can cause ________ which encompasses four disorders that involve abnormalities that are largely ________.
- fetal alcohol spectrum disorder (FASD)
- irreversible
What are the 4 disorders of FASD?
1) Fetal alcohol syndrome (FAS) - most severe, facial annormalities, retarded physical growth, CNS dysfuntion, organ and vision/hearing problems
2) Partial fetal alcohol syndrome (pFAS) - CNS dysfunction, less severe facial anomalies
3) Alcohol-related neurodevelopmental disorder (ARND) - CNS dysfunction without facial anomalies or retarded physical growth
4) Alcohol-related birth defects (ARBD) - heart, kidney, vision, and other physical defects without other prominent symptoms
Although exposure to alcohol during any trimester can have harmful effects, exposure during the ________ causes the greatest harm because many of the body’s structures and organs are forming most rapidly during this period.
second half of the first trimester
Prenatal exposure to cocaine can cause ________, ________, and ________.
- spontaneous abortion during the first trimester
- premature birth
- low birth weight
Cocaine-exposed infants tend to be ________ and ________, often have a ________, and are difficult to calm and feed.
- irritable
- overly reactive to environmental stimuli
- shrill piercing cry
In school, cocaine-exposed children may have ________; in adolescence, they may have difficulty with ________ and are at ________.
- motor, attention, memory, and behavior problems
- problem-solving and abstract reasoning tasks
- increased risk for delinquency
The consequences of prenatal exposure to cocaine vary from individual to individual, and there’s evidence that the consequences are mediated by:
- the amount and potency of the cocaine used by the pregnant mother
- exposure following birth to poverty, insensitive caregiving, and other risk factors that are associated with having a substance-abusing parent
Low birthweight infants are those who weigh less than ________ at birth.
5-1/2 pounds
Preterm infants are born before the ________. The consequences of preterm birth depend on when birth occurs, the adequacy of perinatal care, and other factors and may include:
- 37th week of gestation
- respiratory distress
- comprised immune system
- a cardiovascular disorder
- cognitive impairment
- visual and hearing problems.
Small-for-date infants are also referred to as small-for-gestational age infants and have a birthweight that’s ________ of the expected weight for the length of gestation.
below the 10th percentile
Small-for-date infants are at ________ for problems than preterm infants who are at the expected weight for their gestational age: They’re…
- greater risk
- more likely to die during the 12 months after birth, to have brain damage, and to be at increased risk for infections
- more likely to remain short in stature throughout childhood and to have learning and behavior problems at school
The earliest age at which a baby can survive outside the womb is referred to as the ________. The age reported by different experts varies somewhat, but most agree that it’s between ________ weeks after conception.
- age of viability
- 22 and 26
