A number of people in CLSF have asked me about behavior problems and if there was anything that could be done. I have always taken the position that CLS behavior problems needed to be treated with behavior modification therapy, as you would any other behavior problem. I've been re-thinking that position lately.  
   Davis used to have some minor behavior problems - he was difficult to get up in the morning, kicking and screaming. He would "give up" and act very helpless. My neurologist at the time found an article on fluoxetine (Prozac) that showed it could be helpful for some types of seizures, and on the basis of that article, prescribed Prozac for Davis. This was many years ago and he has been on it ever since.  
   Recently, I decided to stop giving him the Prozac to see if he really still needed it. Over a period of 3 weeks, his behavior progressively worsened. He became very resistant to changes in routine, defiant if made to do something he didn't care for, more aggressive, more easily agitated, and his habit of repeating phrases got much worse. Especially when agitated, he would hang onto a particular phrase which had no immediate meaning for him and just kept repeating it over and over. After about 3 weeks of this, I couldn't take it any more and put him back on Prozac. (The family joke is that either he needs to be on Prozac, or I do.)  
   I started to do some reading on perseverance and echolalia, and found links to articles on autism. Autism shares some characteristics with CLS - most notably language abnormalities and limited development of language, repetitive patterns of unusual behavior, sensory dysfunction, high stress (anxiety), hypersentivitiy, etc.  Autistic children are very resistant to changes, such as new food, toys, furniture arrangement, and clothing. They often become excessively attached to particular inanimate objects. They often repeat certain acts, such as rocking, hand flapping, or spinning objects in a repetitive manner. Some may injure themselves through repetitive behaviors such as head banging or biting themselves. There are some CLS children who also have some of these behaviors.  
   It has been noted that the level of seratonin measured in autistic people is sometimes higher than that in typical people. Seratonin is a neurotransmitter that plays a part in communication within the nervous system.  Some of the drugs that have been tested for use with autistic people have been drugs already known to affect seratonin.   Drug therapy cannot change the underlying disorder. However, the selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine (PROZAC), paroxetine (PAXIL), and fluvoxamine (LUVOX), are often effective in reducing ritualistic behaviors of autistic children. Antipsychotic drugs, such as risperidone (RISPERDAL), may be used to reduce self-injurious behavior, although the risk of side effects (such as movement disorders) must be considered.  
   There is also some evidence that lots of physical activity early in life is beneficial to autistic children and can have a positive effect on the level of seratonin in the system.   I can say from my highly unscientific survey of 1 that Prozac does make a definite difference in Davis's behavior. I think there is only one other CLS kiddo who is taking it, and I recall that mom's comments were that it helps her son get "unstuck" in his behaviors, which is about a good a description as I have heard.   I would encourage anyone who is experiencing behavior problems with their CLS children to ask their neurologist about the seratonin reuptake inhibitors as a possible therapy.  

Missy Bockhahn, Age 19

Hi Mary,
 
   An update on Missy.  She is 19 years old.  Graduated from High School in June, 2004. She is presently working for SASI a work development work shop. 
   She has lost 70 lbs in 2 years not quite sure what that is from.  Her meds for the hyperkeplexia (startle disease) are Topamax and Clonepin.  She was diagnosed with sleep apnea last January.  We currently visit Cleveland Clinic if we have any problems, but it has been two years since we've had to go out there. 
   Recently we had the Coffin-Lowry blood test done.  It was a 2 series test.  Missy's 1st series came back negative, but the 2nd came back positive.  I was next to be tested and I was negative both times.  An idiopathic syndrome. 
   Her startles are daily, for a period of time she wouldn't walk or ambulate because of them.  They subsided for some unknown reason and she was backing walking, x-country skiing and bicycling, her norms.  Right now they come daily 1-2x and this is usually a start of a session of no ambulating again.  Sometimes she overcomes them and sometimes they take control of her life. 
   When we first decided that she had startle disease, her falls were dropping to her butt with her legs underneath and now we've progressed to falling flat on our buttock and back arms and legs stiffened right out shaking and head bent forward and eyes rolling.  So much like a seizure it's scary.  Usually lasting about 30- 55 seconds which seems like a life time.  And then she collapses all the way to the floor for a minute to regain control and then she is dead weight to get back up again.  The whole time frame is about 2-3 minutes start to finish. 
   I still have the people in the stores give me dirty looks for not helping her while this is happening.  We've found that if you talk to her or try to move her it takes a very long time for her to come out of them.  Also, when she falls if her legs are underneath her she doesn't come out of it real easy.  I have to make sure I move the feet.
   Well I guess that is all for now.  I have enjoyed and found very useful every newsletter I have received.   I look forward to them each time. 
   Thanks again,  Kim
   If we can be of any help with other families please let us know.

Robert & Kim Bockhahn
Arcade, NY
 

Please talk to your doctor about Lamictal. We have had much success in treating drop episodes with this drug. Nothing else is as effective and there are very few side effects.—MCH

Ashley Hayden, Age 19

   Mary, I was so interested in your latest Email.  As you may remember, my 19 year old daughter, Ashley had an "episode" - the doctor called it "depressive psychosis" - she was terribly distraught for several days, until a doctor agreed to see us. She cried uncontrollably for several days AND NIGHTS - without sleep...she began to talk about things that she was seeing and hearing that were not real and quite disturbing. 

   After 3 weeks of "in patient", day program help at our cities top Child Psych facility and after being placed on  Seroquel and Risperdol (she was already taking Paxil) , we reached a place where she is stable...not back to her old self - she still believes that someone is talking with her, in fact she has this whole other imaginary life. 
   Risperdol has caused her to gain 80, yes 80 pounds...my beautiful, petite little girl has gained so much weight...and along with the weight gain we have seen a great increase in falls. We have tried Lamictal (along with countless other seizure meds). Her dosage of Lamictal got up to 500mg a day before we gradually took her off of it. 
   Her falls continue to increase at an incredible rate.  She now needs assistance to walk anywhere, including in the house.  It is so sad to see how many startles she has in a day.  She is getting very afraid - even when seated. She obviously feels like she is going to fall.  We have seen her "startle" or jump and flail her arms when seated...I can recall 2x when she actually fell forward out of her chair after a startle...but I am constantly bracing her.  The result is that she is staying home more and more and getting even less exercise - we are hoping she will agree to using a wheel chair to go to church, the mall or to see a movie.  We still do these things but it takes both my husband and myself to walk on each side of her and hold her up...Her gait has also changed, but this began to occur prior to the added medicines. 

   The physical therapist says that her muscles and joints are "loose", but they do not seem to have any suggestions.  She also has scoliosis that has become worse - possibly more noticeable with the weight gain?? Anyway, we continue to look for that miracle that will help Ashley stay mobile. 
   She has refused to use a wheelchair - and boy is she stubborn!  We hope that she will agree to at least use  one when we go out, because I can no longer hold her up when she startles.  We have been to physical therapists for assistance and they seem clueless!  Ashley does water aerobics 3x a week and we have a recumbent bike for her to use to help with her weight.  The falling has caused her to stay seated all day and along with her healthy appetite, the result has been the huge weight gain. We definitely noticed less agitation when we began the Paxil, which actually she was taking before the "episode" to help with her “outbursts". 
   Anyway, I was so glad to hear someone else has found success with the medicine. We are now trying to lower her doses of Risperdol...but when we do we have seen an increase in her hearing the "voices."  The doc. just started us on Topamax this week to see if it might help with the falling.  I am interested to learn more about the possible link between Risperdol and her increased weakness and falling - very interesting! And any link between CLS and Autism. I would like to learn more about that as well.
   Thanks for all you do to keep us abreast of the latest info on CLS.  I will keep you informed as we continue on this journey!  Take care.
 

Respectfully and Sincerely,

Rev. Marc & Julie Hayden
Indianapolis, IN

Chris Michaelsen, Age 17

   Our son Chris used to be on Risperdal. A very low dose though. About a year or so ago he was diagnosed with Intermittant Explosive Disorder, and his psychiatrist put him on this. We didn't really notice much of a change in his aggression and outbursts. However, we did notice other changes. He was sleeping a LOT more, about 14-17 hours a day (if we let him). He was also eating more. This combined with him sleeping more, he gained some weight. Still, we could not figure out what was causing his aggression and outbursts.
   Eventually one of his doctors wanted to test him for seizures. In the past Chris had had 3 episodes that were thought to possibly be grand mals, but they never did enough testing when he went to the ER. And he was starting to have petti mals in class.
   Anyway, his new neurologist asked us to wean him off of the Risperdal and he put him on Depakote. It acts as an anti-seizure medication as well as an anti-depressant. And WOW, what a difference!! Its like we have a new kid. He is happy, can focus more, is more active, dropped some weight. They started him on a low dose and every two weeks he gets his blood drawn to test his levels. He was recently increased, and the Dr. said he is still not at the top dose for one his size. He is now on 1250 mg a day. 500 in the morning, 250 mid day and another 500 at bed or dinner time.
   With this new increase we have seen some of the negative behavior re-surface, so we may need to tweak his meds again. Not sure what is causing the negative behavior again. Meds still too low, or maybe to high. Will update everyone when we know more.

Ron & Laurie Michaelsen
Manteca, CA
 

Michael Malak, Age 10

   To my understanding Depakote was originally used for seizures....and now it is also used as a "mood stabilizer". It is not an anti-depressant (SSRI), to my understanding.  

   My son started on Depakote 2 1/2 yrs. ago. The dosage started at 250mg morn and eve. When we had a visit with the psychiatrist to tell him the Depakote wasn't helping with his explosive outburst ...my son had an outburst in front of the doc and the doc prescribed the Risperdal at .5ml.  I went home that day and something deep down inside of me told me not to give him the .5ml ...so I gave him .2ml instead, and it worked very quickly. He started walking around like he was drunk and as happy as could be. This only happened the 1st time I gave it to him.  So for the first few days I only gave it to him in the evening, a couple hours before he went to bed to see his reaction.  I'm soooo happy I didn't give him the full dose.

   A couple years before this we had tried other meds with him and I could see that they had a quick effect on him. This is why I thought giving him the full .5ml might not be good.   Now 2 1/2 yrs. later (at the age of 11 yrs.) he's taking 375 mg of Depakote in the morning and 500mg in evening.  And Risperdal has gone up to .5ml morn/eve.  
   Right now he still gets testy with back talk. Two weeks ago he got very physical with me...kicking, pushing, and hitting. That I believe had something to do with him not eating lunch at school and coming home starving...and blood sugars low.....new problem for us....plus that’s another story. :)  

Susan Malak
Cudahy, WI
 

Depakote, in both delayed-release tablet and capsule form, is used to treat certain types of seizures and convulsions. It may be prescribed alone or with other epilepsy medications. The delayed-release tablets are also used to control the manic episodes--periods of abnormally high spirits and energy--that occur in bipolar disorder (manic depression). An extended-release form of this drug, Depakote ER, is prescribed to prevent migraine headaches. The delayed-release tablets are also used for this purpose. For more information, see http://www.pdrhealth.com .

Hi there,

   I was reading the emails concerning the behavior issues and noticed some similarities with our daughters.  Missy is also 19, will be 20 in September. We just had the definite diagnosis of Coffin Lowry, for which I've know for 10 years.  At one point Missy weighed 211 lbs. and at present 137.  We are looking for anything to give the reasoning of weight loss. Nothing as of yet.  But I remember her putting the weight on.  It seemed as though every month I was having to buy her clothes that fit.  And at that time she was at her worst  with the startle attacks. Always used the wheelchair, wouldn't go anywhere unless we had it. Never wanted to leave the house. 
   School was the worst.  She would crawl around on her butt or hands and knees.  As of now she is much more mobile only uses the wheelchair for the mall, or where there is a lot of walking.  Missy has been on Topamax for about 5-6 years and it has helped.  But we are looking at switching to the Lamictal.  She is also on Klonepin for the startle attacks.  I have never thought about meds for behavior.  I just have dealt with her moody and grumpiness forever.  There are days she makes everyone around her miserable.  Makes for a long day. It was nice to read about your daughter.  I think they are all pig-headed. Maybe some of this will help you out.

Thanks again,

Robert & Kim Bockhahn
Arcade, NY
 

   Oh my goodness - Kim it was so nice of you to Email!  Ashley started out at 140 pounds 2 years ago and now is at 220...she used to be able to walk with slight assistance at school and around the house. 
She now has begun to crawl to get to the bathroom etc.  Pretty inventive, I thought! 

   The doctor did mention that a side affect of Topamax is decreased appetite - - she just started that medicine this past Monday - we are hopeful!!! It indeed sounds like we have similar daughters!  Ashley has always been "spunky" and we too would gently deal with it. 

   The doctor recommended Paxil 3 or 4 years ago because she began to have these outbursts where she would yell unkind things at us and her brothers!  Also she was not easy to manage if she didn't want to do something.  The Paxil helped that some.  But it wasn't until she had this emotional breakdown 2 years ago next month that the additional medicine was added.  At that time she was getting very involved with the Youth Group at church...going to dances at school and involved with Special Olympics - she talked about dating, getting married, adopting children [really!], getting a job, living on her own - typical things she heard her peers discussing - we attribute part of the breakdown to the fact that she was trying so hard to be like her peers - - and she is moderately mentally handicapped - we think it all got to be too much for her. 
   Anyway, since then, she did complete High School and was working with a job coach for this past fall - but her startles and falling have gotten so bad that she is afraid to go out with anyone except her father and me.  So we put that on hold.  I am an art teacher and I took a new job where I only have to teach 3 days a week.  We believe I will need to give that up this year so that I can devote all of my time to caring for and assisting Ashley - it is not safe for her to be home alone and she needs someone to be with her and plan activities for her during the day...we are on a 7 - 10 year waiting list for support services assistance in Indiana. 
   She does have so many wonderful traits and we love her so dearly and completely that it hurts to see her unhappy.
   Thank you, sincerely, for writing...it was so kind of you to take the time.  It is helpful to know that we are not alone. May God bless and keep you and yours.

Rev. Marc and Julie Hayden
Indianapolis, IN
 

Allen Ellzey, Age 16

   Allen just turned 16 this month, so hard to believe he has made it this long. Still can't chew, talk, dress himself, and is not potty trained, but he is such a delight to be around. He had surgery in October, and is doing just great. Just learned to get up from being on the floor. My daughter Lanette Sessions is doing such a wonderful job with him. Since her husband died 2 years ago, I was afraid it would be too much for her but she has continued with everything. She just started "student teaching" this month and her other 3 kids (17,19 and 25) are doing great.
   Since Allen's 13 year old sister is living with us, they are on the same campus at school and he really enjoys seeing Rachel every day. Just wanted you to see a picture of him. God bless you and thank you for all these years of working for CLS.

Hilda Ellzey
Rusk TX

Anthony Smith, Age 12

   Anthony has been recently diagnosed with PDD Asperger's Syndrome-like mild to moderate autistic tendencies. He is very rigid, doesn't like people in his space, repeats everything, doesn't like to be touched unless he is okay with you touching him, Doesn't deal with change in routine or adding something to the day that was not already planned.
   He has a lot of anxiety about everything - what's going to happen next, school tomorrow, what's for dinner next day. Has a lot of social issues doesn't make friends, talks non stop but only about what he wants needs and things he is worried about. But his word vocabulary is good - he tests out verbal skills 6-7, but what he understands is a lot lower 3-4 years.
   We have tried many ADHD drugs with no success and strange side effects. They finally decided that wasn't what his problem was. He is this way because he also in the autistic range. We have been on Prozac a month and a half. Target dose about a month. He seems to have more anxiety on this and sometimes more irritable but, he does seem more cooperative on this med Was wondering how long before you seen a significant change in Davis. We are going back in April to the neurologist and was considering maybe trying to see what other options they have. Has anyone’s child been on anxiety meds and if so what kind and what were the side effect?

James & Kristina Smith
Hope Mills, NC
 

For more information on PDD Aspberger’s syndrome, see http://info.med.yale.edu/chldstdy/autism/aspergers.html 

New Article Posted

http://clsf.info/Literature/20-Year%20Follow-Up.pdf 

Coffin-Lowry Syndrome: A 20-Year Follow-Up and Review of Long-Term Outcomes, Alasdair G. W. Hunter, American journal of Medical Genetics 111:345-355 (2002)

   I found this article on the internet recently, and wrote to Dr. Hunter who was kind enough to share a PDF copy of the article, which is now posted on the CLSF web site. If anyone else has obtained “soft copy” of articles this way, please send them to me and I will add them to the website. Most of the literature is only available online in abstract form.

   Over 100 CLS cases have been reported on in the literature since CLS was first identified, however, there remains little long-term follow-up information on older patients with which to counsel affected families about prognosis. In 1982, this group of researchers reported on 12 patients from eight families. They were able to obtain follow-up information on six of the affected patients and one of the carrier mothers. They have noted a number of important complications, many of which we in the CLSF have become familiar with through sharing our information with each other.

   It is so important that we continue to share this vital information with each other, as I firmly believe the parents are the ones who are doing the most meaningful research on CLS.—MCH

Nadine Delao
449 Shady Pine Ct.
Minneola, FL 34715
ndelao@cfl.rr.com
Jessica, Age 6

Suzanne & Ivan Lopez-Solorio
417 Sutter St
Petaluma, CA 94954
707-778-6937
lopezsolorio@aol.com
Christian, Age 4
Daniel, Age 1-1/2

Let us rise up and be thankful, for if we didn't learn a lot today, at least we learned a little, and if we didn't learn a little, at least we didn't get sick, and if we got sick, at least we didn't die; so, let us all be thankful.  ~Buddha

Thanks for Caring!

The following families or individuals have recently made generous donations to the Coffin-Lowry Syndrome Foundation:

Maddi and Bob Klein
Olney, MD

In honor of Jennifer Shannon

Hilda Ellzey
Rusk, TX
Allen Ellzey

Send your donations to:  

Coffin-Lowry Syndrome Foundation

c/o Mary Hoffman

3045 255th Ave SE

Sammamish, WA 98075 

(U.S. Funds, please)