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Topics in Peds > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Knowledge About Genetic Disorders Enables the Physical Therapist to:

A
  • Participate in the diagnostic process
  • Discuss the disorder with the family
  • Provide appropriate intervention
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2
Q

4 Types of Genetic Disorders

A
  • Chromosome Disorders
  • Single-Gene Disorders
  • Multifactorial Disorders
  • Mitochondrial Disorders
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3
Q

2 different types of chromosome disorders

A
  1. Numerical Abnormalities
  2. Structural Abnormalities
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4
Q

Numerical abnormalities

A
  • Entire chromosome is missing or extra chromosome is present
  • Examples: Down syndrome, Klinefelter syndrome, Turner syndrome
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5
Q

Structural Abnormalities

A
  • Involve deletion, translocation, inversion, duplication, or other rearrangement of chromosomes
  • Ex: Prader- WIlli, Cri-Du-Chat, Wolf-Hirschhorn
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6
Q

Single Gene Disorders

A
  • Autosomal dominant – single gene mutated or abnormal
  • Autosomal recessive – result when the same abnormal
    allele is inherited from each parent
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7
Q

X linked recessive inheritance

A

males are affected
females are carriers

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8
Q

Multifactorial disorders/ complex disease

A

-result from a combination of genetic and environmental factors
- Cleft Palate, spina bifida, heart disease, diabetes

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9
Q

Mitochondrial Disorders

A

result due to alterations of small mitochondrial DNA fragments that are typically inherited from the mother

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10
Q

Newborn Genetic Screenings

A
  • States in the US routinely screen newborns for
    certain genetic, metabolic, hormonal, and functional disorders
  • Each state regulates which screening tests are given to babies
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11
Q

Some examples of conditions that IL screens for

A

PKU
Thyroid disease
Hearing loss
Congenital Heart Disease

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12
Q

Is genetic screening done as a child or an adult?

A

either!

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13
Q

when is genetic screening used?

A
  • Has no signs or symptoms
  • Has no clinically significant family history
  • Belongs to a certain population (such as a racial or ethnic group) that may be at greater risk for certain disorders or traits
  • Does not provide diagnosis
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14
Q

When is genetic testing done?

A
  • Clinically significant signs and/or symptoms
  • A clinically significant family history
  • Positive genetic screen results
  • Provides a diagnosis or prediction of a genetic condition
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15
Q

Role of PT in diagnostic process

A
  • Exam and Eval (medical history and red flags)
  • Genetic Counseling
  • Resource for information, referrals, education
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16
Q

Red Flags for the infant/child (its a lot!)

A
  • Down Syndrome or other chromosome abnormality.
  • Birth defects
  • Blindness/vision loss
  • Deafness/hearing loss
  • Chronic or sig. skin prob.
  • Bleeding disorders
  • Extremely tall or short stature
  • An excess of broken bones
  • Muscle weakness or inability to walk
  • MR, DD, LD
  • Speech problems
  • Attention deficit/hyperactivity
  • Seizures
  • Miscarriages/infertility
  • Consanguinity
  • Specific genetic cond.
  • Dysmorphic features
  • Loss of milestones
  • Unexplained hypotonia or hypertonia
  • Ataxia or other mvt. Disorder
  • Ethnicity
  • Failure to thrive
  • Recurrent infections
  • Sleep disorders
  • Allergies
  • Obesity
17
Q

Life Expectancy of Down syndrome

A

60 years old

18
Q

Progression issues of Down syndrome

A
  • Impact of hypotonia and underlying weakness
  • Impact of growth on the developing MSK system
  • Impact of cognitive impairment on development
  • Impact of additional conditions such as fluid in ears; thyroid disease; Alzheimer’s Disease
19
Q

Down syndrome

A
  • Large tongue
  • hypotonia
  • cognitive delay
  • epicanthal fold in eyes/characteristic eyes
  • congenital heart disease
  • intestinal defect
  • simian crease
  • shortened 5th finger
  • wide gap between first and second toes
20
Q

Prader-Willi

A
  • Almond shaped eyes and poor eye sight
  • R sided heart failure
  • High blood pressure
  • Speech deficit - SLP
  • hypotonic
  • Life expectancy: into adulthood
  • Obesity - cannot control their appetite
    ◦ At risk for DMII
21
Q

Cri-du-Chat

A
  • Early on: microcephaly (very significant) and low birth weight
  • Limiting lifespan: heart condition; lifespan is improving can live to > 50yo
  • Hypotonia
  • ADHD
  • Loud high pitched cry
  • developmental delays limiting independence
  • Present similar to CP; GMFCS IV or V
  • Pretty much need all referral systems
22
Q

PKU- Metabolic Disorder

A
  • Can’t break down foods
    ◦ Need dietician
  • Microcephaly
  • Delayed development
  • Musky odor in breath and urine
    ◦ Hard time going to school
    ◦ Part of education on how to manage this
  • Can be in regular ed but also might need special ed… large variability
23
Q

Neurofibromatosis

A
  • NF1: found below 18 yo
    ◦ Integument changes
  • NF2: found between 18-20 something
    ◦ Vestibular component
  • Cognitively intact
    ◦ maybe learning disorder or ADHD
  • Noncancerous tumor
    ◦ spots on the skin - can look like abuse
  • Don’t see this at birth
  • Treat what you see
  • Biggest referral: neurologist
24
Q

Fragile X

A
  • More common
  • Age of diagnosis: 3 years for males, 42 mo for females
    ◦ start to see symptoms at 12 mo
  • not typically progressive
  • long ears, face, jaw
  • microcephaly
  • sensitive to bright light and loud noises –> plan your environment
  • susceptible to MVP
  • Hypotonia and lack of joint stability
  • sometimes misdiagnosed as FAS
25
Q

Mitochondrial Disease

A
  • Take a good health screen
  • This is “diseases” because it is dealing more with the medical components of what is going on in the body
    ◦ organ failure, changes in medical status, etc
26
Q

Achondroplasia

A
  • Autosomal Dominant: Don’t need both parents to have it; only need a single gene
  • Very Rare
  • Large Head, Frontal bossing, decreased growth in midface
  • Abnormal bone growth, short, short UEs and LEs
  • Frequent ear infections
  • Obesity
  • Hypotonia in infancy
  • Risk for airway obstruction
  • No cognitive delay
  • Large head will make it very difficult for them to develop head righting and neck extension
    ◦ Head can pull them down and disturb COM –> at risk for TBI due to balance problems
  • Environmental Considerations
    ◦ school bus step taller than them

Topics in Peds (15 decks)

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