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
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2
Q

Teratogens

A
  • agent that disrupts normal development of embryo and fetus
  • drugs, lead exposure
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3
Q

Phenylketoneuria (PKU)

A
  • error in metabolism inherited from 12th gene
  • cannot metabolize phenylalanine
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4
Q

Symptoms of PKU

A
  • mental disability
  • convulsions
  • behavior problems
  • skin rash
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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
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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
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7
Q

TX of Sickle Cell Anemia

A
  • blood thinners to help prevent clogging of vessels
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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
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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
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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)
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10
Q

TX of Tuner’s Syndrome

A
  • estrogen therapy
  • growth hormone therapy
  • therapy/counseling
  • specialized education may be necessary
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11
Q

William’s Syndrome (WS) cause

A
  • mutation on chromosome 7 causes a deletion
  • size of deletion determines severity of symptoms
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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
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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
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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
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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