Chapter 15 - Neurodevelopmental Disorders Flashcards
1
Q
Brain may fail to develop structurally and functionally due to:
A
- genetic and chromosomal abnormalities
- environmental insults such as teratogens
2
Q
Teratogens
A
- agent that disrupts normal development of embryo and fetus
- drugs, lead exposure
3
Q
Phenylketoneuria (PKU)
A
- error in metabolism inherited from 12th gene
- cannot metabolize phenylalanine
4
Q
Symptoms of PKU
A
- mental disability
- convulsions
- behavior problems
- skin rash
5
Q
Treatment of PKU
A
- tested via pinprick to foot
- significant reduction of phenylalanine in diet (beans, nuts, dairy and some meat products), only in children as the brain is still developing
6
Q
Sickle Cell Anemia
A
- production of sickle shaped RBCs due to mutation on 11th chromosome
- can cause strokes due to clogging of vessels and fatigue
7
Q
TX of Sickle Cell Anemia
A
- blood thinners to help prevent clogging of vessels
8
Q
Turner’s Syndrome cause
A
- missing or structurally altered X on the 45th chromosome results in a lack of production of estrogen
- only found in females
9
Q
Physical symptoms of Turner’s syndrome
A
- short stature
- webbed neck
- low hairline at back of neck
- congenital swelling of hands and feet
- do not develop secondary sex characteristics
9
Q
Developmental symptoms of Turner’s syndrome
A
- low-average to average intelligence
- higher verbal abilities, nonverbal learning impacted
- visuospatial abilities impacted
- hyperactve in childhood
- hypoactive in adolescence (highschool)
10
Q
TX of Tuner’s Syndrome
A
- estrogen therapy
- growth hormone therapy
- therapy/counseling
- specialized education may be necessary
11
Q
William’s Syndrome (WS) cause
A
- mutation on chromosome 7 causes a deletion
- size of deletion determines severity of symptoms
12
Q
Physical symptoms of WS
A
- “elf-like” features - brow brow, puffy eyes, small upturned nose, wide mouth, widely spaced teeth, narrow face
- hypersensitive to sound
13
Q
Psychosocial symptoms of WS
A
- high interest in music
- highly sociable
- usually happy
- below avg intellect
- very empathetic
- struggle with math, writing, and telling time
- difficulties in higher order conceptual reasoning and problem solving
14
Q
What brain areas are affected in WS?
A
- occipital and parietal
- explains trouble w/ conceptual reasoning and problem solving
- struggle with visuospatial tasks
15
Q
Fetal Alcohol Syndrome cause
A
caused by alcohol ingestion by mother during pregnancy
- results in distinct craniofacial features and learning disabilities
16
Q
FAS craniofacial features
A
- droopy eyelids/small eye openings
- microcephaly
- widely spaced eyes
- thin upper lip
- short and flattened nose
17
Q
Psychosocial behaviors in FAS
A
- profound mental disability
- difficulty adapting and holding attention
- learning disabilities
- sleeping and eating disorders
- wetting the bed
- poor organization
- behavioral outbursts
- antisocial behavior (criminal behavior, substance abuse
18
Q
Down syndrome cause
A
- partial or extra copy of chromosome 21
19
Q
DS physical symptoms
A
- protruding tongue
- hypotonic muscles
- short, stubby fingers
- simian crease
- small head
- flat face
- small ears and nose
- broad, short neck
- protruding stomach
20
Q
Psychosocial symptoms of DS
A
- mild to moderate mental disability
- more likely to develop AZ later in life
21
Q
Klinefelter’s syndrome
A
- male receives XXY chromosomes
- more feminine features and stature
- does not affect sexual orientation
- no cog. deficits’
- could affect fertility
22
Q
Fragile X syndrome
A
- males: intellectual disability, symptoms of autism, attentional deficits
- females: social anxiety, some don’t present symptoms
23
Q
XYY syndrome
A
- males receive XYY chromosomes
- more aggressive, larger stature
- no cognitive disability
