Other Pediatric Disorders Flashcards
1
Q
Rett Syndrome
A
- Rett Syndrome is a brain disorder that occurs almost exclusively in girls
- also known as RTT or RS
- this condition affects 1 in 9,000-10,000 females
- most common form is known as classic Rett syndrome
2
Q
What causes Rett syndrome
A
- a genetic mutation which occurs at the time of conception
- name of mutated gene is MECP2
- found at the long arm of X chromosome
- responsible for telling downstream genes when to shut off
- this gene mutation is involved in autism, mental retardation, learning disorders, schizophrenia and bipolar
- most prevalent in the brain
3
Q
What are the main problems caused by the mutation in Rett syndrome
A
- brain function
- cognition
- sensation
- emotion
- motor/movement
- autonomic function
- learning
- speech
- mood
- cardiac function
- breathing
- chewing/swallowing/digestion issues
4
Q
When do signs of Rett syndrome typically appear
A
- have 6-18 months of apparently normal development
- then develop severe problems with language and communcation, learning, coordination and other brain functions
5
Q
What is the greatest handicap of Rett syndrome
A
- apraxia/dyspraxia
- interferes with movement, eye gaze, and speach
- the cannot do what they want
- difficulty to make an intellectual assessment due to the lack of langauge and lack of hand use
6
Q
What are some of the main complications of Rett syndrome
A
- lose purposeful use of hands and begin to make wringing, washing or clapping motions
- tend to grow more slowly than others and about 3/4 have microcephaly
- unusual eye movements such as intense staring, excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures and scoliosis
7
Q
How is Rett syndrome Diagnosed
A
- blood test
- genetic testing alone is not enough due to involvement in other disorders
- requires either presence of mutation or fulfillment of the diagnoistic criteria = clinical diagnosis based on signs nad symptoms or both
8
Q
What are the stages of Rett Syndrome
A
- stage 1: 6-18 months
- stage 2: 1-4 years
- stage 3: 2-10 years
- stage 4: after 10 years
- each stages gets progressively worse
9
Q
Williams syndrome
A
- most cases of williams syndrome appear to occur spontaneously for unknown reasons
- Distinctive facial features typically become more pronouced with age
- Features: round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares).
10
Q
Williams syndrome: stellate
A
- a star-like pattern in the iris of the eye may be apparent in about 50% of children with this disorder
11
Q
Williams syndrome: signs or symptoms
A
- sitting and walking delay
- gross and fine motor skills are delayed
- precocious puberty in children
- congential heart defects occur in approximately 75% of WS
12
Q
Fragile X
A
- genetic disorder
- FXS is caused by changes in the fragile X mental retardation 1 gene
- the FMR1 gene usually makes a protein called fragile X mental retardation protein that is needed for normal brain development
- it is a spectrum disorder
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13
Q
What are some signs of fragile X
A
- most common identified cause of inherited intellectual disability
- most common known cause of ASD
- developmental delays: not sitting, walking, or talking
- learning disabilities
- social and behavior problems: not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking and being very active
14
Q
How to diagnosis fragile X
A
- testing DNA from a blood test
- testing to find chnages in FMR1 gene that can lead to fragile X associated disorderrs
- any child with unexplained developmental delay, intellectual disability and or ASD should receive genetic testing for FXS
15
Q
Pediatric MS
A
- relapse-remitting seem to happen more often in children and teens
- this group appears to recover from the neurological disability more quickly but are at increrased risk of cognitive difficulties that can affect school work
- 3-5% of MS patients are diagnosed in childhood < 18 years
- about 98% have relapsing-remitting MS verse 84% of adults with MS
condition may also be called pediatric onset MS, early onset MS, or juvenile MS
16
Q
Causes of pediatric MS
A
- being exposed to toxins, like secondhand smoke and pesticides
- having low levels of vitamin B
- being overweight
- genetic issues especially with immune system
- being infected with epstein barr virus
17
Q
Pediatric MS issues/prognosis
A
- optic neuritis
- sensory
- brainstem-cerebellar
- motor symptoms
- clinical phenotype differrs from that of the adult patients in that pediatric MS populations generally experience a more agressive disease onset with diabling clinical symptoms
- polyfocal presentation at disease onset
- higher relpase rate early in the disease course
- child tend to have more favorable outcomes after clinical interventions
- have slower disease progression over time
- relatively slow development
18
Q
Symptoms of pediatric MS
A
- fatigue
- MS hug
- gait deviations
- numbness or tingling
- weakness
- vertigo
- bladder and bowel problems
- sensitivity to heat
19
Q
diagnosis of MS
A
- the onset of MS during childhood affects established neural networks and connections that are actively maturing
- MRI measures provide a window into these processes through quantification of the development of structure pathways
- and potential loss of such pathways or their cortical or subcortical connections
20
Q
Treatments of Pediatric MS
A
- begin treatments as needed
- services to treat specific needs PT, OT, and SLP, and teacher
- parent support and education support
21
Q
medical treatment of pediatric MS
A
- one tx fingolimod is also approved for use in children ages 10 and older with relapsing remitting
- many of the tx approved for adults with relapsing forms of MS are also used off label for children with MS
- work closely with school
- corticospteriod medications
- methyloprednisolone through IVE once a day for 3-5 days
- sometimes doctors prescribe prenisone for shorter time after IV meds
22
Q
Prognosis for pediatric MS
A
- some people with relapsing remitting go onto develop secondarry progressive MS
- pediatric form has few instances of relapses but slowely gets worse
- people who have had pediatric MS tend to physicall progress more slowly than people who develop MS as adults
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23
Q
Epidermolysis bullosa
A
- EB Simplex is the most common type of EB, with most mild cases remaining underdiagnosed.
- EBS is defined by skin blistering due to cleavage within the basal layer of keratinocytes
- no treatment or cure
24
Q
Epidermolysis bullosa: types
A
- EB simplex (EBS)
- junctional EB (JEB)
- dystrophic EB
- kindler
25
Symptoms of EB
- Skin that blisters easily
- Blisters inside the mouth
- Blisters on the hands and soles of the feet
- Scarred skin, sometimes with small white spots called milia
- Thickened skin and nails
- Blistering is due to breakdown of the internal
cellular structure of basal keratinocytes of the
epidermis and does not extend into deeper layers of the skin
26
How can genetics be involved with EBS
| Epidermolysis bullosa simplex
- in some cases its possible to test an unborn baby for EB at about 11 weeks
- EB is caused by a faulty gene that makes skin fragile
- usually a child with EB will have inherited the faulty gene from a parent who also has EB
- it's also possibel for a child with EB to have inhertied the faulty gene from both parents who are just carries
27
Assoicated co-morbidites of EB
- contractures
- anemia
- GI issues
- cardiopulmonary
- gentiourinary
- psychological
- pain
- cancer
28
treatment for EB
- skin care
- need to keep moving
- development care
- peer interaction
- dietary
- medications for pain
- amitriptyline for more sever pain, older children and adults
- In more severe cases where patients do not respond to traditional pain medication, treatment may involve use of antiseizure drugs such as gabapentin and pregabalin.
29
Outcomes/prognosis for EB
- certain variants of Epidermolysis Bullosa Simplex (EBS) are more severe,
- Early infant death is a risk
- In rare cases, a child with EBS may develop muscular dystrophy as they grow.
- Most children with Dystrophic Epidermolysis Bullosa (DEB() have anormal life expectancy,
- DEB tends to cause more long-term problems than EBS
- Blistering tends to continue into adulthood, leaving behind scarring and can
cause disfigurement.
- Some rare forms of DEB, called generalized DEB, may lead to chronic kidney failure
and skin cancer.
- The life expectancy of children with Junctional Epidermolysis Bullosa (JEB) is poor
- About half do not survive past the first year of life, and many die before they are 5 years old.
- Few children with JEB live into adulthood.
