Lissencephaly Network Get-Together 2001
Reports from 'Scoop Merritt'
Polymicrogyria (1) breakout session by Virginia
Polymicrogyria (2) breakout session by Ken
Pictures by Jennifer
Hover your mouse pointer over each picture to find out who it is.
Introduction
Hi everyone! Sandy Merritt here,
reporting from ...um...um....Somerset
Pennsylvania at a hotel, approximately halfway home from the Get-Together. I
was able to use some time in the car today to type up some notes, which will
follow in separate emails. This first message is an intro! And I'm actually
going to start at the end, then go back to the beginning.
Firstly let me say the Get-Together was a blast and we are really really glad
we went again (I'm speaking for Bob and Julia also with that statement). We
met SO many terrific people...loopers and non loopers and Fort Wayne
residents and other sight-seers. Everyone was terrific! We stayed until
today (Tuesday morning) hoping to have more time to visit but most everyone
left Sunday afternoon or Monday morning, so we hung out alone on Monday. I'm
glad we stayed though because it was quite relaxing and Julia really enjoyed
the jungle. I mean the Botanical Gardens. We went out to dinner last night
(Monday) at a Japanese steak house, the kind where everything is cut up and
cooked on your table. Guess who we ran into? Dianna, with the Ehrsmans and
the O'Neals--the two families who are hosting the next Get-Together! So I
guess they were already in planning mode for 2003!!! Also at dinner we sat
with a nice family from Fort Wayne who asked us lots of good questions about
Julia. Their daughter was about the same age and they compared beanie babies
and we talked about the zoo because they go there every weekend and we had
just been. We talked all through dinner to these nice strangers and they all
touched Julia's hands and told her goodbye when they left.
The Downer family was also there with Dianna's crew and they came over to say
hello to Julia, since they are the official MDS reps for the Network and
hadn't met Julia yet. After they went back to their table, we asked the
waitress for our bill and it turns out the Fort Wayne family had paid it!
WOW! Everyone we met was really nice, and asked the "right" questions if
you
know what I mean. I doubt Fort Wayne had ever seen that many kids in
wheelchairs at one time before!
I learned many great things this weekend...most will be included in the
technical emails to come, but one of the fun things that happened was at the
zoo on Sunday afternoon. We heard that several families were going to the
zoo, so we weren't surprised to see other Liss kids there. We were watching
the pony rides and a little girl with cute pigtails and a trach was lifted up
on a pony by a woman, who I assumed was her mother. A younger woman took
pictures of her all the way around the pony ride ring, and I took a picture
too--wanting a picture of one of the Liss kids doing the pony ride for my
photo album since Julia was asleep and couldn't do it. I didn't recognize
the little girl, but we didn't manage to talk to everyone at the Get-Together
so that didn't surprise me too much. After she got off the pony I asked her
"mom" if they were there for the Lissencephaly Get-Together and she looked at
me blankly. Turns out the little girl is a Fort Wayne resident, who was out
with her homecare nurse for a day at the zoo. It was a lesson for me--there
are OTHER kids with disabilities! LOL But she really had a lot of the
mannerisms of a Liss kid.
The two main medical things I learned are kind of unusual things and may not
be as important to you as they are to me. But I thought they were
interesting.
The first is that the doctors have a new term for infantile spasms! When
they occur in older children, they are now calling them "epileptic spasms".
It was kind of a running joke all weekend...parents would ask a question
saying "My daughter has infantile spasms....I mean EPILEPTIC spasms..." and
everyone would chuckle. I think it is a good thing to have a new term
because most of the info on infantile spasms says only in kids under a year
old have them, and many many of our kids have them much older than that. So
this is a little more accurate.
The second thing I learned is kind of complicated. Frequently strangers or
well-meaning friends mention to me "I saw on TV where this girl was having
100 seizures a day and they removed half her brain and the seizures stopped!"
Has anyone ever mentioned that to you? They always mean well, butI have
never known exactly what to say in response to that, except that it isn't
really an option for Julia. But now I know exactly WHY it will not stop
seizures in a child with Lissencephaly, so I can respond to that much better.
You can read why in the "scoop" report containing notes from Dr.
Guerrini's
talk on seizures.
Okay, enough rambling about that for now. Stay tuned for Scoop Merritt
Report Part 1, containing notes from Dr. Dobyn's talk about the
"Neurogenetics of Lissencephaly". His talk was first, then Dr. Guerrini's
(I'm probably not spelling his name right).
I took really good notes through both of their talks and then my hand got
tired so my notes are pretty sparse the rest of the weekend. I'm not used to
writing. By "writing" I mean scratching on a piece of paper with a pen (a
cylindrical object filled with a gooey substance called "ink"). The
scratches are sometimes legible as english words but mostly look like random
lines and circles. Typing is much more efficient but I thought people would
look at me strangely if I opened up my laptop and typed through the talks!
Besides, my battery wouldn't last long enough. I cheat in the car and plug
it into the cigarette lighter.
On to part 1...
Respectfully submitted by "Scoop" Merritt, official Loop note-taker and
Julia's mom
Report 1
These notes were various things I wrote
down as he went. I didn't write down
everything because I know a little more than I did two years ago. If you
have questions about specific things or if something is WRONG or doesn't make
sense, please write me privately and I'll try to figure it out.
Dr. William Dobyns-- The Neurogenetics of Lissencephaly
Lissencephaly sometimes happens in the late 1st or early 2nd trimester, which
is later than a lot of birth defects.
There are three major groups that we use to categorize Lissencephaly.
1) Congenital Microcephaly, Microlissencephaly
2) Lissencephaly (ILS, MDS) and Heterotopias (Nerve cells in the wrong place)
3) Polymicrogyria, Schizencephaly (cleft brain)
What do you need to know about your child?
1) Diagnosis
Diagnosis can be very broad, like "Cerebral Palsy" or
very specific like
"ILS Grade 3a"
There are four levels of diagnosis
1) broad (CP)
2) Description from MRI
3) Specific Syndrome (MDS, etc)
4) The cause
2) What is going to happen to my child?
A) mentally
B) motor function (sit, crawl, walk, see, hear?)
C) life span
D) medical problems (pneumonia, etc)
Factors that determine prognosis
1) Head size (too large? Too small?)
2) Type of malformation…micro, liss, PMG, etc.
3) What is the extent of the malformation? 10% affected will
obviously
have a better prognosis than 100%.
4) What is the motor disability? Normal tone, floppy, spastic?
5) Seizures…few? Many?
6) History of complications…does the child get sick a lot?
3) What should I do for my child? How can I care best about my child?
Set Realistic Goals
Treat aggressively to keep healthy, or make the decision to keep the
child comfortable? (an example would be choosing not to treat certain
seizures because the drugs will make the child less responsive or perhaps
have undesired side effects. In some cases the child may be better off having
a few seizures than they would be having the drugs.)
Feeding (g tube?)
Infections (colds, etc)
Pneumonias
Seizures
The following is various things that came up in the Question and Answer
portion, and are in no particular order...
SBH--Subcortical Band Heterotopia is a mild form of Lissencephaly. It
doesn’t look like Liss but involves the same genes. It is classified as
"Grade 6".
Tests can determine the underlying cause of Lissencephaly for about 80% of
the kids now!
Miller Dieker Syndrome is missing a piece of Chromosome 17
LIS1 gene missing = ILS
LIS1 gene plus 100 other genes = MDS
LCH--a gene has recently been found for this by one of the collaborators
(14.33e?)
Grade 1, 2, 3 more affected
Grade 4, 5, 6 less so. Dr. Dobyns knows of some SBH people living into their
60’s. And a grade 4 in their 50’s.
PMG can be anywhere from 10% to 100% of the brain affected. All of these
genes can affect PMG
1p, 1q, 2p, 6q, 11q, 21q, 22q, Xq
Dr. Dobyns and Dr. Ledbetter expect the information and understanding of PMG
to explode in the next year or so.
Life span for PMG--less than half of ones with 100% of brain affected live to
age 20. If only 10% TO 50% of brain is affected then they live much longer
and the rules don’t apply!!!
Ketogenic Diet--Dr. Dobyns calls it "Biblical Therapy for Seizures." It
definitely works for some people but nobody seems to understand why putting
the body in this state stops seizure activity. It was discovered by accident
with hospitalized kids whose seizures stopped.
The Ketogenic Diet is good for mixed seizure types which have proven hard to
control in other ways. In Dr. Dobyns' experience, 1/3 of patients will
respond dramatically to the diet, 1/3 will be helped some by it, and 1/3 will
have no effect at all from it.
-- does not cause sedation
-- doesn’t taste good and must be measured precisely
-- easier by g-tube
He also pointed out that a higher functioning kid who enjoys eating will find
ways to cheat at school or whatever, which is why it sometimes might not work
for them…they are sneaking food that you don’t know about.
Walker-Warburg--a doctor in the Netherlands is working on mapping this and
they expect it to be mapped in the next two years.
MEB--Muscle Eye Brain
MSG--Microcephaly with Simplified Gyria
Type 1 -- relatively mild, no epilepsy, no CP
Type 2 -- Mild to moderate epilepsy
Type 3 to 4 -- Microcephaly associated with other problems elsewhere
Mapping by Human Genome Project
Dr. Dobyns expects all forms of Lissencephaly, PMG, etc to be mapped in
the next 10 years, with MOST being mapped in the next 5!! Microcephaly and
PMG in the next 2 years.
Sorry these notes are kind of disjointed...but it is better than nothing!
Respectfully submitted by Scoop Merritt, Julia's mom
Report 2
Okay, here comes report number 2,
containing info obtained in the ILS and MDS
breakout session. I would be really interested in hearing what was discussed
at the other breakout sessions if any other loopers went to those...
The classification system listed below is a lot less complicated and easier
to understand than the one that Klaus posted earlier!
Here goes...
Breakout session for ILS (Isolated Lissencephaly Sequence or Classic
Lissencephaly) and MDS (Miller Dieker Syndrome)
Moderated by Dr. Clark, Dr. Pilz, Dr ? (they never introduced themselves!)
There are 6 grades in the classification system for Lissencephaly, with Grade
1 being the most severely affected, and Grade 6 being the most mildly
affected.
Grade 1 -- Complete Agyria (lack of gyri)
Grade 2 -- Mostly Agyria with a small amount of Pachygyria (larger gyri)
Grade 3 -- About 50% Agyria and 50% Pachygyria
Grade 4 -- Pachygyria only
Grade 5 -- Pachygyria in some areas and Subcortical Band in others
Grade 6 -- Only Subcortical Band Heterotopia (also called Double Cortex)
There is also sometimes an "a" or "b" following the grade your child
is
given.
The "a" indicates being caused by a change in the LIS1 gene.
The "b" indicated being caused by a change in the DCX gene.
A designation of "a" or "b" does not necessarily mean that the change
in the
gene has been found using genetic testing--it is also often given based on
how the brain looks in an MRI scan.
For example, in ILS Grade 3a, the abnormalities in the brain are more severe
in the back of the brain, and in ILS Grade 3b the abnormalities are more
severe in the front of the brain.
There are (so far) two genes that we know cause the various forms of Classic
Lissencephaly
1) LIS1 on Chromosome 17
2) DCX gene
There are two ways that the LIS1 gene on Chromosome 17 can be affected.
1) missing entirely (deletion)
2) small change within gene itself
So far, they haven’t found instances of the DCX gene being absent (deletion),
only changed.
60% of SBH (Subcortical Band Heterotopia) girls will have a change in the DCX
gene
MDS is always a result of a change or deletion in the LIS1 gene.
What makes MDS different from ILS is that in MDS the portion affected or
missing is larger. There are often also more distinct facial features.
Other interesting things that came up in response to questions asked….
Undescended testicles in boys should be taken care of before puberty because
there is some problem that can happen if the testicles are not in the right
place when puberty sets in. (I didn't write down the name of this problem but
maybe someone else did)
Dehydration can increase seizure activity in some cases, so being sure your
child is well hydrated is doubly important.
I asked a question about sleep deprivation for moms, since many of our
children awake multiple times in the night or do not sleep regular schedules.
Dr. Clark agreed that long term sleep deprivation can cause forgetfulness,
irritability, etc. Unfortunately other than "get more sleep" the docs didn't
have any sage advice.
Also I asked Dr. Pilz, whose background is genetics, a personal question
after the breakout. I carry a balanced translocation between chromosomes 8
and 17, which is what caused Julia to get the 17 deletion and Miller-Dieker
Syndrome. I was born with one of my hands about 2/3 the right size, and the
fingers fused. Each finger has only two joints instead of three. Julia's own
geneticist seems to think it is unrelated, but I was curious if another
geneticist would disagree. Dr. Pilz agreed to hook me up with someone she
knows who sort of specializes in hand stuff to see if any genes on 17 are
involved with hand deformities. She thinks there may be a possibility it
could be related, which could mean if I have other children who are carriers
like me, they might have the same deformity. I am curious if there are any
other people out there that any of you know about who have a translocation
involving chromosome 17, and have minor birth defects such as fused fingers
or toes... Thanks in advance for any info you can provide!
Submitted by "Scoop" Merritt, Julia's mom who can still type something like
80 words a minute even if it isn't always with the right fingers!!
Report 3
Dr. Renzo Guerrini--Seizures
Dr. Guerrini gave a pretty technical talk. I did my best but a lot was
beyond me. Here goes!!
Infantile Spasms in older children are now being called "Epileptic Spasms".
Movement of Neurons is very complicated, and disruption of connections is the
problem that causes seizures.
Factors influencing epileptogenicity of cortical malformation
- Genetic Factors
- Extent of the lesion
- abnormal neuronal or glial morphology
- circuitry--connectivity
- intrinsic properties of the tissue
- age-related influences
Epileptic Encephalopathy
Frequent disabling seizures +
Severe epileptiform EEG abnormalities + or -
Detectible brain lesion +
Appropriate temporal relationship =
Impaired cognitive and neurologic development or reduction in
developmental potential.
Epileptic Encephalopathy’s in infancy
- West Syndrome and infantile spasms (there is a distinction between
them)
- Early onset Lennox-Gastaut Syndrome
- Specific Chromosomal Abnormalities
- Tuberous Sclerosis
- Focal Cortical Dysplasia
- Hemimegalencephaly--only affects one side of brain. Neurons are large
in appearance, causes more seizures. This is someone who can benefit from
the surgery to remove a portion of the brain to stop seizures.
Many people have seen cases of this surgery where a portion of the brain is
removed, sometimes almost half of the brain…and the other half of the brain
takes over regular functions and seizures are stopped. In
Hemimegalencephaly, only half of the brain is causing the seizures
(concentrated), and the other normal portion of the brain will not generally
take over seizure production.
In Lissencephaly the seizures are triggered from all over the brain
(diffuse). Even if we COULD identify a specific part of the brain that is
causing seizures and we removed it, another portion would likely begin to
create seizures anyway.
In a study of epilepsy in lissencephaly, 77.4% of the patients had infantile
spasms which were resistant to treatment
(There were a couple of other statistics about this study that I wasn’t quick
enough to write down--if anyone got them I would love to have them).
West Syndrome and Infantile Spasms
- Infantile Spasms (flexor, extensor, lightning, nods, mixed)
- Arrest of psychomotor development
- Hypsarrhythmia pattern shown on EEG
- One of the above may be missing
- Onset appears between 4 to 7 months (always before 1 year)
- poor prognosis
- Symptomatic or cryptogenic
"Epileptic Spasms" is a new term the doctors were using to describe infantile
spasms in older children.
Antiepileptic Drugs
Carbamazepine
Primary indication--first line or adjunctive therapy
in partial and
generalized seizures (excluding absence and myclonus). Also in LSG
(Lennox-Gastaut) and benign childhood epilepsy syndromes.
**A drug of first choice for tonic-clonic and partial seizures for adults and
children.
--can make absence seizures worse
Phenobarbital
Widely used, inexpensive. Primary
indication--adjunctive or first
line therapy for partial of generalized seizures (excluding absence). Also
for status epilepticus, LGS, benign partial epilepsy and neonatal seizures
**Highly effective AED (ant epileptic drug) with potential neurological
toxicity, especially in children
Phenytoin (Dilantin)
Primary indication--first line or adjunctive therapy
for partial or
generalized seizures (excluding cyclones and absence). Also for status
epilepticus, LGS, benign partial epilepsy (in the USA)
**Well established first line therapy. Use may be limited by side-effects,
especially in children.
Should be very carefully monitored…small inconsistencies in dose can make
the drug less effective, or can make it toxic.
Valproic Acid (Depakote, Depekene, Valproate)
Primary indication--first line or adjunctive therapy
for generalized
seizures (including cyclones and absence) and also partial, LGS.
**Drug of choice in idiopathic generalized epilepsies. Useful in a wide
spectrum of other epilepsies
Ethosuximide
Primary indication--first line or adjunctive in
generalized absence.
**Drug of first choice for absence seizures.
Vigabatrin (Sabril)
Primary indication--adjunctive therapy in partial and
secondary
generalized seizures. Also infantile spasms (firstline) and LGS
**Effective AED carrying a high risk for visual field restriction and
potential neuropsychiatric side effects
Do not be afraid to use this drug though, especially in children who already
have compromised vision, or where the effects of the seizures would be worse
than the slight loss of field of vision
(NOTE from Sandy--I asked in our breakout session if the doctors thought that
the drug would ever be approved for use in the U.S now, because of this side
effect being discovered. Dr. Clark said that it was really our own FDA’s
studies that began to show this effect. He seemed to think it was unlikely it
would ever get FDA approval for widespread use, but the docs are working on
creating an Orphan drug program especially for kids with disabilities to be
allowed to use this. This is sometimes also called "compassionate use".
He
said it would be helpful for families to write the FDA with success stories,
and with the fact that we are willing to take on the risk for the excellent
benefits. I will try to find an address and a particular person we should
write to...and I will pass that along.)
Lamotrigine (Lamictal)
Primary indication--adjunctive therapy in partial and
generalized
epilepsy, also LGS.
**Useful in a wide variety of epilepsies, with no cognitive side effects.
Must be introduced gradually (for example an increase of 25 mg every two
weeks)
Gabapentin (Neurontin)
Primary indication--adjunctive therapy in partial and
generalized
seizures
Topirimate (Topamax)
Primary indication--adjunctive therapy in partial and
generalized
seizures
Levetir acetam
Primary indication--adjunctive therapy in partial and
generalized
seizures
AED-induced seizure worsening mechanistic and predisposing conditions
- overdose or intoxication
- inappropriate choice in the first place
- paradoxical reaction
- encephalopathy
Criteria for drug induced worsening
- clean-cut increase in seizure frequency or appearance of new
seizure
type
- reversibility upon the drug’s discontinuation or reduction
- Respected evidence of an adverse effect on a given syndrome or
seizure
type
- recognition of EEG patterns that may predict seizure aggravation.
Why is it difficult to make sure that seizure worsening has occurred due to
the drug?
- fluctuations in severity of seizures may be frequent anyway
- Tapering of one AED and introducing another…which caused the
increase?
- 10% of patients had a >50% seizure increase following addition of
a
placebo (containing no medicine)
- unequivocal demonstration may be unethical
Worsening of seizures/paroxysmal EEG activity in imprecate choice (?) in
children
- Carbamazepine
- Phenobarbital
- Phenytoin
- Vigabatrin (may worsen myoclonics)
Things that came up due to question and answer session….
Some seizures may be better off not treated because the effects of the drugs
may be worse than the seizures themselves
Focal seizures only involve part of the brain
PET Scan--functional scan which explores metabolism. Can not be done during
a seizure. These are not very useful in children with diffuse abnormalities
such as Lissencephaly.
Submitted by Sandy "Scoop" Merritt, Julia's mom who got her pictures back
today!!!!!! Yeah!!!!!!!!!
Okay, it is kind of weird to mix these two subjects but I didn't
have many
notes on the genetics talk so I thought I'd combine them.
Dr. David Ledbetter--Genetics
Dr. Ledbetter gave an interesting talk about the Human Genome project and how
it works, how it is progressing, and the political feuds that are involved.
I didn’t take many notes because my hand was sore by this point, and because
while it was very interesting, not a lot of it applied directly to
Lissencephaly.
Ledbetter estimates that it cost the researchers approximately $1,000,000 to
isolate LIS1 gene.
The Human Genome Project is funded by the NIH (National Institute of Health)
and the DOE (Department of Energy).
Congress appropriated $3 Billion to be spent on the Human Genome Project over
the 15 years from 1990-2005.
Pretty pitiful notes, eh???? It really WAS an interesting talk though.
Honest! I enjoyed it a lot, I just didn't take good notes. lol
_________________________________
Are you Listening--Jillian Baliunas
Jillian is Brian Rehder’s sister. She gave an interesting talk about how
siblings are affected by many aspects of having a disabled brother or sister.
I didn’t take a lot of notes because she gave out a lot of handouts. A
few
points she made are….
Your children probably have fears and questions about their Lissencephaly
sibling that they are afraid to ask because they don’t want to upset you.
They are worried about the seizures, about the life expectancy. They can
sense when you are stressed about it and it is better to try to talk to them
than just to assume because they don’t ask you that they are okay.
When asked what the biggest concern was, many siblings said that they were
afraid their brother or sister would die and they didn’t know how to let you
help them deal with that fear without upsetting you.
One other thing that comes up frequently is that they don’t understand why a
certain behavior is punished if THEY do it but ignored if the disabled child
does it. Talk about how the Liss child does not understand that they
shouldn’t do certain things, and the sibling KNOWS it is bad but does it
anyway. And also, if the Liss child does something that IS punishable, punish
them! Try to be consistant.
Siblings born after the Liss child can also have guilt for being able to do
things that their brother or sister can’t do, at a younger age.
She also stressed the importance of equal time...try to spend time alone with
the sibling away from the Liss child occasionally.
She handed out a paper with "dear Aunt Blabby" letters from kids who had
disabled siblings. You can use things like this to start a discussion. A
good example is this one…
Dear Aunt Blabby-- When I get angry at my brother, who has autism, my parents
yell at me and tell me I shouldn’t get mad at him because he has autism.
Then I feel bad. It doesn’t seem fair. I thought we were supposed to
treat
him like everyone else? Signed--I just don’t get it.
This is a good example of mixed messages getting through to the kids.
Jillian gave out a resource guide with some good books on this topic. They
are listed below. She also gave out a handout called "Listen To Me" which
was just terrific. I hope she doesn't mind if I send it to you all because I
know you will love it. I will give her full credit!!! It will follow in a
separate email. Here are the sibling resources...
1. Brothers and Sisters: A special Part of Exceptional Families Edition II
By Tom Powell and Peg Ogle
Paul H. Brooks, Publ 1985. Baltimore
To order: 1-800-638-3775
2. Brothers and Sisters and Special Needs: Information and Activities for
Helping Young Siblings of Children with Chronic Illness and Developmental
Disabilities
By Debra Labato
1990
To order: 1-800-638-3775
3. Living with a Brother or Sister with Special Needs
A Book for Sibs
By Donald J. Meyer, Patricia F. Vadasy, and Rebecca R. Fewell
1985, 1987. 128 pp, illus., bibliog.
962720 Paperback $12.95
University of Washington Press. PO Box 50096, Seattle WA 98145-5096
4. It Isn’t Fair! Siblings of Children with Disabilities
Edited by Stanley D. Klein, Ph.D. and Maxwell J. Schleifer, Ph.D. (written
by the children)
5. What about me? Growing up with a Developmentally Delayed sibling
By Drs. Bryna Siegel and Stuart C. Silverstein
April 1994, 245 pages, $24.95
Plenum Publishing Corporation/Insight books
New York 212-620-8000
Submitted by Sandy "Scoop" Merritt, Julia's mom. Julia doesn't have any
siblings but I still enjoyed this talk a lot, because I imagine a lot of it
applies to her cousins and even our friends' kids... Speaking of which, we
have a good friend we spend lots of time with who has a daughter who is 8 and
twins who are 6 (a boy and a girl). Recently the 8 yr old had a friend over
while we were there, and he asked what was the deal with Julia. Elizabeth's
answer was..."She's just exactly like us, only her brain is smooth". What
a
great answer!!! And just this week we met some friends of the 6 yr old
twins, another set of twins who are 5. The little girl asked what that tube
coming from under Julia's shirt was, and Hannah, who is 6, said, "That is how
she eats. She can't eat like us, so they feed her right into her tummy".
Boy, they really listen when we tell them stuff!
My Brother Has…Listen To Me
--by Jillian Baliunas (Brian Rehder's sister)
Hi. My brother has something called "Listen To Me". My brother has a
special stroller called a wheelchair. My brother goes to a special class in
his school. I am in a regular class in his school.
My brother has lots of neat toys that he can turn on with one big switch. It
doesn’t go up and down like a light switch. You just have to put your hand
on it.
I like to play ball. I don’t think my brother likes to play ball, but I know
he likes to eat them. He once ate one and now he had a beach ball in his
belly. I can see the valve when I lift up his shirt. My mom won’t let me
blow it up anymore. I guess it is already just the right size.
I like to eat pizza. My brother can’t eat pizza because it clogs his belly
button. I don’t think it’s fair that I couldn’t watch cartoons for a
week,
I just wanted to give him a little piece of pizza. It’s not MY fault that the
doctor didn’t put a pizza adapter on his belly button.
I’ve never heard him say anything. He must be telling secrets behind my back
because everyone keeps saying something about listening. I once saw a movie
about aliens and monsters. They brainwashed everyone. I think he keeps
brainwashing my family by saying listen to me, listen to me.
My brother once had to go to the hospital. He had hiccups so bad that they
wouldn’t go down. I learned in school that what goes up must come down.
Hmm. My teacher told a lie.
My brother gives sloppy wet kisses, but really good hugs. Sometimes he
squeezes me so tight that I’m afraid I will POP like a balloon. I hope not
because he doesn’t like loud noises, they make him seize like pirates. My
Dad said stealing is a no no.
All the kids like to come to my house because I have a roller coaster. It
hangs from the ceiling and goes through the whole house. Sometimes we go real
fast and it’s just like Space Mountain. They say the only difference is they
don’t have to wait in the long lines. I don’t know what Space Mountain
their family goes to. I’ve never had to wait in line when I go with my
brother. Hey, maybe he brainwashed the people at Disney too…Listen to me,
listen to me.
This summer we get to go in our supped up van to a convention like for
trekkies only with wheelchairs instead of space ships. There I get to see
lots of kids who can’t eat pizza, but love those beach balls. I can’t wait.
Maybe their’s need more air and if I’m really nice, I can blow em up. I
also get to meet their syllables.
Maybe I can find one who will Listen to Me.
Abbreviations
Hi there! As I was typing up my notes I ran across a LOT of abbreviations,
so I thought I'd try to list them here with what they stand for...because you
will likely see lots of these in different places in my other reports.
SE--Status Epilepticus
LGS--Lennox-Gastaut Syndrome
PMG--Polymicrogyria
IS--Infantile Spasms
SBH--Subcortical Band Heterotopia
LCH--Lissencephaly with Cerebellar (or Cerebral?) Hypoplasia
WWS--Walker-Warburg Syndrome
MEB--Muscle Eye Brain Disease
AED--Anti-Epileptic Drug
MSG--Microcephaly with Simplified Gyri
CP--Cerebral Palsy
ILS--Isolated Lissencephaly Sequence (sometimes also called Classic
Lissencephaly)
MDS--Miller-Dieker Syndrome
LIS1--The name given to the gene on the 17th chromosome which when missing or
changed causes Lissencephaly
DCX--the name given to the other gene (I am embarassed to admit, I can't
remember where it is)
NIH--National Institute of Health
DOE--Department of Energy
Polymicrogyria (1)
Bear with me on this.
Alicia decided she wanted to impress everyone
during the talk and stand so I had to help her. She was the oldest PMG
kiddo there.
The most common form of PMG involves the Sylvian Fissure and is called
Persylvian PMG. The severity depends on whether it only involves the
area in the Sylvian Fissure or goes beyond the fissure
Bilateral Medial PMG -the polymicrogyra goes just beyond the fissure
Bilateral Frontal PMG- goes up the fissure to the front of the brain
Bilateral Occipital PMG -goes to the occipital area of the brain
Bilateral Diffuse PMG- much of the brain is affected.
Sylvian region is the first fold to form and most PMG is in this fold.
There are adults that are just like you and I walking around and living
normal lives who are unaware they have PMG. These people are very mild
and not diagnosed unless they have seizures or and accident requiring an
MRI.
80% of diagnosed PMG are persylvian PMG. Severity ranges form mild to
severe.
The sylvian region is responsible for :
1. Feeding sucking and oralmotor coordination
2. Speech- expressive greater than receptive speech. The receptive
speech is much stronger and the person can understand and not be able to
form the words or speek clearly, much like a person who has had a
stroke. Can have normal intelligence.
Clinical problems with PMG
1. Seizures 90%
2. Intellectual problems
3. Problems with movement
Seizures
Many have Lenox Gestaut Syndrome
Intellectual
Involving expressive language and talking . Many with mental
retardation
Problems with Movement
Spasticity
The spasticity increases as the child gets older until reaching adulthood and
then it stabalizes.
Grading system
1.- Involves the sylvian fissure and diffuse brain
2.- Involves the Sylvian fissure and part of the brain
3.-Just the entire Sylvian Fissure
4. -Only part of the Sylvian Fissure
The study is 1 - 2 years from discovering a specific chromosome for PMG.
they think it is possibly linked to the x chromosome because boys that
are affected with PMG seem to be more severely affected than girls.
Remember boys have an X & Y chromosome and girls a Y & Y.
It could also be due to a viral infection early in pregnancy in
particularly the CMV virus.
I am sorry . This is all I have as it was at this point that Alicia
decided it was time to show off. It was at this point we went to
questions and answers. These seemed to center on seizures and meds. I
do have some good notes on seizure meds and will share them tomorrow
night as I still have tons to do. Hope this helps all of you.
Humbly, Virginia
7-14-2001
Break out session discussing PMG with Dr. Rick Leventer
Rick has reviewed greater than 200 cases of PMG. PMG is the most common
form of 'Lissencephaly'. PMG encases a large group of diseases and Rick
feels that this is a most exciting time for anyone doing research in this
area. (well exciting for him!)
Dr. Leventer indicated that many persons with PMG have very subtle or no
symptoms at all. If they do not have noticeable symptoms, they typically
are never examined. With the more sophisticated equipment that is available
today, PMG can be more easily investigated.
Definitions:
Poly - too many
Micro - small
Gyria - folds
Many cases of Liss were misdiagnosed in the past. With the better equipment
available today, it is easier to determine what is actually the disease.
PMG is milder than Liss, but has a much wider spectrum.
At the mild end of PMG, there may be some seizures and some slight
developmental delay. Several affected individuals may not even know that
the have it!
Basically the cortex has an over folding and it may involve part or all of
the brain. This directly correlates with the severity of the condition. A
small amount of individuals with PMG are related to epilepsy.
Out of the 220 patients the following figures appear.
PMG is more common in boys than in girls by a 2:1 ratio.
PMG may present itself from birth clear up to age 30.
PMG is recognized in many images, but not in all.
The Sylvian Fissure forms early and is very important. Other folds in the
brain come later. This is typically the first area where problems occur
with PMG.
If the entire brain is involved, it is called Bilaterial Diffuse PMG.
There is a scientific paper coming out which will discuss PMG more in depth.
PMG on one side only is much rarer.
Exact Causes of PMG
1) Not known
2) Could be genetic in families
3) Could be traced to chromosomes
4) Something happening during pregnancy if the brain is at a critical stage
of development and infection occurs.
5) CMV(virus) can cause the diffuse form of PMG.
6) Major illness during pregnancy
There have been twins with one affected and one not.
Most causes of PMG are believed to be genetically based.
Typically boys are worse than girls because of the "X" "Y" chromosome
thing.
There are rarer causes of chromosomes being deformed in Chromosomes1, 2, 6, 21 and 22.
The most common cause of problem during pregnancy is CMV (common virus)
A test from the baby just after birth can determine this by looking for
anti-bodies.
Early problems in the pregnancy are the worst while all organs are
developing. CMV is a very subtle infection wherein the symptoms are
sometimes not apparent. Antibodies can be checked to see if there was an
infection on the new born.
Types of PMG related to chromosomes will have the same form of disease but
the severity may be very different.
Girls have a much better chance of less symptoms even in later years older
than 20.
Two patients with the same brain scan showing PMG may have totally different
symptoms.
The neuronal migration that results in PMG starts out in the ventricles and
moves out to form the cortex. The cells are born and then migrate to the
surface and organize themselves. The organization stage is where the
process starts and happens within the first 16 weeks or so.
Someone raised a question about pre-natal testing. - There is always a
chance of risk during any prenatal test and any manipulation of the placenta
or amniotic fluid is a risk.
Questions on the chromosomes - Translocation - bits in the chromosome have
swapped position and this can cause unbalanced problems resulting in PMG,
but not always.
There are a wide range of problems with clinical PMG.
Common problems
1) Seizures
2) Intellectual problems from very mild to severe retardation
3) Movement or spasticity with limbs or trunk - this increases with age as
the body is maturing.
Specific Problems with PMG
Feeding - coordination with the tongue and mouth resulting from motor
control problems.
Speech problems - related to feeding because of motor control. Typically
children who are affected in this way have much higher comprehension than
they can convey.
Signing is one option recommended as are communication devices.
Therapy for mouth / motor skills. A good speech pathologist should know how
to do this. Nipple types, food tests and swallowing studies are goo for
determining if there is a problem.
There were some discussions on drooling. Ther are medications available to
reduce drooling. Additionally some children have had their ducts
re-directed to aid in reducing drool. This is typically done to improve
public acceptance.
Botox is a paralyzing drug that can be used to treat spacisity.
Hyperbaric Oxygen therapy is a very controversial procedure which increases
the Oxygen pressure in side the brain and possibly aids in repairing the
brain. Rick was not very impressed with this.
Life Span
There are no specific PMG related causes for reduction of life span.
However, the things to watch for are:
Infections
Poor Nutrition
Pneumonia
Uncontrolled seizures
Epilepsy
SUD - Sudden unexplained death
Mild PMG cases typically live longer with only a learning disability.
Serious PMG cases have a reduced life span. The mild form individuals do not
always show up at these conferences.
Seizure discussion
Rick recommends only using medications for 2 years because in that amount of
time, they effectiveness decreases. If you can get off of the meds
completely, do it!
Seizures come from the cortex near the outer layer from neurons. Seizures
are unwanted electrical impulses.
A group of cells communicate from neurons in the cortex and move the
information from there. The corpus collosum is only wires in the brain and
is not really needed. The location of the malformation in the cortex is
related to seizure problems.
Stomach seizures were discussed and are not related.
Infantile spasms can come from any area even a tiny area.
Another controversial issue
- Treating Seizures - should you treat both the clinical (visible) seizures
and the EEG seizures or not.
The thought process is currently to not treat the EEG. Development may be
slightly reduce by EEG seizures but the medication to reduce these may also
slow development.
This being said, if the EEG seizure activity is increased from before, it
may need attention.
Remember, the brain is continually maturing even with regard to seizures so
the patterns may not always be the same.
On meds for seizure control
PMG does not reduce the drug effectiveness.
Using the same meds for a long time can cause the body to build up a
resistance to the drug.
Sedation drugs have a different effect.
Dosage and recommended dosages are not cut and dried. Give the drugs a good
trial. Stay on the drug until reaching maximum dosage or if side effects
appear. Some drugs take weeks to reach the effective saturation where they
are clinically effective.
Be aware that not all seizures can be controlled and are incurable.
Terms relating to size of the head
encephaly - head
Macro - large
Micro - small
Normo - normal
Schizencephaly is a result from a cleft in the grain communication with the
ventricle.
Rick's group now has over 220 good MRI scans and will be reviewing them.
The grading scale they are going to use is 1-4 with 1 being the most severe
and 4 being the least severe. This is for the Perisylvian form of PMG
only.
To the Lissencephaly Launch Pad
Disclaimer: This collection of pages are purely a bunch of memories of the conference and do not necessarily reflect the policies or opinions of the The Lissencephaly Network. The accuracy of the content of this page is not guaranteed, always consult your doctor/geneticist/pediatrician.