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S7- Special Populations > Week 5- Genetic Disorders > Flashcards

Week 5- Genetic Disorders Flashcards

1
Q

PART 1

A

PART 1

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2
Q

All disease s either ________, __________, or a combination of the two. Give examples of each.

A

Genetic
-cystic fibrosis, sickle cell disease, down syndrome

Environmental
-mercury poisoning

Combination
-DMII, HTN

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3
Q
  • National endeavor seeking to identify all human genes and their function.
  • Revolution in diagnosis and categorization of genetic disorders, confirmation of new syndromes, reclassification of many congenital malformations.
A

Human Genome Project (HGP)

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4
Q

Core Competencies for Health Professionals:

  • PT practice as ________ and skilled practitioners.
  • Need to know when and how to make a _______ (based on S/Sx, taking appropriate family Hx).
  • Understand disease etiology and pathogenesis, prognostic indicators, treatment ramifications, neurological outcomes, and lifespan issues.
A
  • independent

- referral

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5
Q

Three Minimum Competencies:

  • Appreciate one’s _________ in genetics and expertise.
  • Understand the _________ and __________ implications of genetic service.
  • Know when and how to make ________.
A
  • limitations
  • psychosocial and ethical
  • referral
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6
Q

When to Make a Referral:

  • History of dysmorphology, brain malformations, epilepsy, abn CT, EEG. abnormal tone, weakness, motor control, dyscoordination, delayed development, sensory disturbances.
  • Children with _______ ____, even in absence of __________, should be referred.
A

-global DD, dysmorphisms

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7
Q

What are the (3) basic types of purely genetic disease?

A
  1. ) Monogenic- Mendelian inheritance, a single gene is involved.
  2. ) Polygenic- Complex inheritance pattern, many genes are involved.
  3. ) Cytogenetic: Involves large-scale changes in chromosomes.
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8
Q

Molecular Chromosome Studies:

  • __________ = Study of chromosomes and their abnormalities.
  • __________ = Chromosomes are displayed according to their length. (usually obtained from lymphocytes in blood)
  • __________ = Uses chemically tagged chromosome specific DNA probe to label a chromosome sequence and visualize it under a flourescent microscope.
A
  • Cytogenetics
  • Karyotype
  • FISH
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9
Q

What has revolutionized cytogenetic testing and has high diagnostic yield of genomic abnormalities? This technique is replacing FISH and compares child’s DNA with a control DNA to identify microdeletions/microduplications.

A

Array Comparative Genomic Hybridization (array CGH)

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10
Q

What are the (4) categories of genetic disorders?

A
  • Chromosomal
  • Single gene
  • Multifactorial
  • Mitochondrial
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11
Q

Chromosomal Disorders:

  • Altered structure or number (deletions, inversions, duplications, translocations)
  • ___-___% of human conceptions
  • 1/160 live births
  • Leading cause of _________
  • In GENERAL – are not ________
A
  • 10-15%
  • miscarriage
  • hereditary
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12
Q

Chromosomal Alteration in Number:

  • _______ – complete extra set – all are lethal
  • __________ – absence (monosomy) or duplication (trisomy) of a chromosome in a cell – usually only one chromosome is affected
  • _________ ________– rarely survive
  • ________ – most are due to a full trisomy conception followed by loss of extra chromosomes in some cells during mitosis in the embryo – milder clinical manifestation
A
  • Polyploidy
  • Aneuploidy
  • Autosomal monosomy
  • Mosaicism
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13
Q

Chromosomal Alteration in Structure:

  • ________- caused by chromosome break.
  • ____________ – interchange of genetic material between nonhomologous chromosomes.
  • __________ _________– two breaks in different chromosomes with an equal exchange of genetic material, carriers are usually normal but not offspring.
A
  • Deletion
  • Translocation
  • Reciprocal translocation
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14
Q

General Characteristics of Chromosomal Abnormalities:

  • Most are associated with ________ delay and ________ impairment.
  • Large number of genes are involved with CNS development.
  • Characteristic ________ features.
  • Delayed growth, congenital malformations.
A
  • developmental delay and cognitive impairment

- craniofacial

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15
Q
  • What are (3) common autosomal trisomies?

- Nearly all associated with advanced _________ _____.

A
  • Down’s Syndrome (trisomy 21), Edwards Syndrome (trisomy 18), Patau Syndrome (trisomy 13)
  • advanced maternal age
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16
Q

Name some common genetic disorders. (9)

A
  • Down’s Syndrome
  • Turner Syndrome
  • Marfan’s Syndrome
  • Cri du Chat
  • Prader Willi
  • Angelman
  • Fragile X
  • Rett
  • Neurofibromatosis
17
Q

Down Syndrome:

  • What is the most common form?
  • What are (2) other forms? Describe each.
A

-Trisomy 21

  • Translocation = Extra chromosome 21 is attached to another chromosome, usually 14, 21, or 22.
  • Mosaicism = Some cells have 47 and some have 46 (least frequent form)
18
Q

Down Syndrome:

  • What is the most common phenotypic feature of individuals with Down’s?
  • Other craniofacial features include Inner epicanthal folds, upward slanting palpebral fissures, flat facial profile, aplasia/hypoplasia of ________ ______, anomalous ears, low nasal bridge, shortened palate, maxillary and ________ hypoplasia, irregular tooth placement.
A
  • Hypoplasia (underdevelopment)

- frontal sinuses, dental

19
Q

Down Syndrome MSK/CT:

  • Most of note is patient joint _______mobility.
  • Linear growth deficits, greatest between ___ and ___ months, mostly due to leg length disruption.
  • Delayed skeletal maturation rate.
  • __/__ overweight by age 3.
A
  • hypermobility
  • 6 and 24 months
  • 1/3
20
Q

What are some other systems Down’s affects and which one is the most common health problem?

A
  • Vision/Hearing
  • Cardiovascular*** (40%)
  • GI
  • Neurologic
  • Immunologic
21
Q

With Down Syndrome, how does Neurologic deficits present?

A

-mild microcephaly, hypotonia, intellectual deficits, DD, EARLY ONSET of Alzheimer’s

22
Q

Down Syndrome Aging:

  • Life expectancy has been _________.
  • Changes in body function and structure secondary to aging can lead to ________ restrictions.
  • ______ dysfunction (hyper or hypo) a huge problem in adults with DS and can mimic cognitive decline (Alzheimer’s misdiagnosis). What are some symptoms?
  • _________ disorders (mitral prolapse in 46-57%) can lead to increased risk of endocarditis, CVA, and HF. Can even occur without prior cardiac findings. What are some symptoms?
  • ________
  • ________ disorder likely due to premature aging.
  • _____/______/_____ and sleep disorders.
  • __________ disease affects almost all adults with DS >___yo.
A
  • increasing (9 to 55)
  • activity
  • Thyroid dysfunction. Symptoms include decreased energy/motivation, weight gain, constipation, bradycardia, and dry skin.
  • Cardiac disorders. Symptoms include fatigue, irritability, weight gain, dyspnea, bilateral crackles, 3rd heart sound.
  • Obesity
  • MSK disorders
  • Hearing/vision/skin
  • Alzheimer’s Disease, 40yo
23
Q

Turner Syndrome:

  • ____ ________ disorder
  • What are the (3) characteristic impairments?
  • Other characteristics include dorsal hand/feet edema, hypertelorism, epicanthal folds, ptosis of upper eyelids, elongated ears, shortening of hand bones.
  • NUMEROUS ________ anomalies
A

-sex chromosome disorder

  1. ) Sexual infantilism
  2. ) Congenital webbed neck
  3. ) Cubital valgus

-skeletal

24
Q

Marfan’s Syndrome:

  • Monogenic disorder of _______ ______.
  • Is it autosomal dominant or recessive?
  • Gene coding for fibrillin protein is FBN1 located on chromosome 15. Mutation of this gene leads to disruption of CT in ________, _____, and ____ system particularly.
A
  • structural proteins
  • autosomal dominant
  • skeleton, eyes, and CV system
25
Q

Marfan’s Syndrome:

  • Symptoms of skeletal involvement?
  • Symptoms of eyes involvement?
  • Symptoms of CV system involvement?
A

Skeletal: long limbs, fingers, toes; hyperextensible joints; deformed chest

Eyes: dislocated lenses due to lax suspensory ligaments in eye

Cardiovascular: aortic dilation with valve regurgitation and aneurysm (dissecting)

26
Q

What are some common Partial Deletion Disorders?

A
  • Cri-du-Chat
  • Prader Willi
  • Angelman
  • Williams
27
Q

Cri-du-Chat:

  • Partial _______ disorder.
  • ___-like cry as infants.
  • LBW, hypotonia, feeding difficulties, microcephaly, micrognathia, clumsiness, hyperactivity, mod-sev cognitive impairments.
A
  • partial deletion disorder

- cat-like cry

28
Q

Prader Willi and Angelman Syndrome:

  • PW and AS are examples of differential activation of genes depending on parent from whom they are inherited.
  • Both are a deletion of 3-4mb of chromosome ____.
  • Inherited from mother = ____________
  • Inherited from father = ___________
A
  • chromosome 15
  • mother = Angelman Syndrome
  • father = Prader Willi
29
Q

Prader Willi:

  • In fetus = ________
  • Infancy = Failure to thrive, ________ and _______ difficulties, severe hypotonia
  • By 2 = ________ eating may start (_______ becomes a concern), tone usually improves and walking typically achieved by 2
  • _______ Issues = temper tantrums, stubbornness, obsessive-compulsiveness
  • Wide range of ___________
A
  • decreased activity
  • respiratory and feeding
  • excessive eating (obesity of concern)
  • Behavioral issues
  • cognition
30
Q

Angelman Syndrome:

  • ______ ______ Syndrome (no longer used in literature)
  • ______ like gait, subtle dysmorphic facial features, frequent and inappropriate laughter
  • Ataxia, seizure disorder, sleep disorder
A
  • Happy Puppet Syndrome

- Puppet like gait

31
Q

What are the (3) types of single gene disorders?

A
  • Autosomal Dominant (Neurofibromatosis)
  • Autosomal Recessive
  • Sex-linked (Fragile X, Rett)
32
Q

Fragile X Syndrome:

  • Leading hereditary cause of developmental learning disorders.
  • More common in ______.
A

-boys

33
Q

Rett Syndrome:

  • Progressive, almost exclusively in ________. (______ tend to not survive)
  • Typical prenatal and perinatal period with normal development up to __-__ months.
  • May see mild hypotonia, placid personality and a weak suck and cry.
  • Head circumference ______ at birth, decelerates anywhere from __-__ months.
A
  • females (males tend to not survive)
  • 6-18 months
  • normal, 3-48 months
34
Q

Rett Syndrome:

  • Short period of developmental _________ followed by rapid ________ in motor, language, and psychosocial functions.
  • Loss of purposeful _____ motions.
  • Gait and truncal ataxia, tremors, apraxia, autistic like behavior, bruxism, breathing irregularities (hyperventilation or episodic apnea), GERD, impaired bowel mobility, LE vasomotor changes.
A
  • stagnation, regression

- hand motions

35
Q

Rett Syndrome:

  • Fits of screaming and crying common by __-__ months.
  • Severely impaired _______ skills and cognition, seizures.
  • After rapid deterioration, the disease becomes somewhat ______.
  • Dystonia results in hand/foot deformities and kyphoscoliosis.
  • _______ occurs early.
A
  • 18-24 months
  • language skills
  • stable
  • osteoporosis
36
Q

Metabolic disorders include those involving what? (4)

A
  • amino acid metabolism
  • carbohydrate metabolism
  • lysosomal storage
  • urea cycle disorders
37
Q

Phenylketonuria (PKU):

  • ______ _______ of the monogenic amino acid disorders.
  • Autosomal ________ disease.
  • Caused by a deficiency of phenylalanine hydroxylase.
  • Phenylalanine and phenylpyruvate accumulate in blood and appear in urine.
  • Symptoms include severe ________ _________.
A
  • most common
  • autosomal recessive disorder
  • severe mental retardation
38
Q

___________ is the most common monogenic disorder of carbohydrate metabolism.

A

-Galactosemia

39
Q

Neurofibromatosis:
-Point mutation in _____ gene leads to loss of cell differentiation and uncontrolled cell growth. Therefore, the NF1 gene is considered a tumor suppressor gene.

A

-NF1 gene

S7- Special Populations (18 decks)

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