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Prader-Willi Syndrome and Coenzyme Q10(Ubiquinone, Ubiquinol, CoQ10) (Last updated on January 15, 2007) Note: This article is a work-in-progress and still incomplete. Feedback would be very welcome, so please feel free to e-mail me with any comments you might have. I am particularly interested in the results that others have had with the use of CoQ10 in those with PWS, so if you have experience with that, please consider writing me or posting about it in the guestbook. Introduction Coenzyme Q10 supplementation has noticeable benefits for at least a significant subpopulation of those with PWS (see "Anecdotal Reports," below), including:
CoQ10 is an essential component of the mitochondrial electron transport chain that produces adenosine triphosphate (ATP), which is the main energy source for the majority of cellular functions. CoQ10 is also a potent anti-oxidant due to its ability to regenerate vitamin E (alpha-tocopherol). (Littarru 2005, Somayajulu 2005, Lass 1999) The nature of the improvements caused by CoQ10 supplementation in those with PWS suggests that the benefits come from an improvement in mitochondrial functioning and therefore energy production in both skeletal muscle and the brain due to increased electron transport and/or a reduction in the buildup of oxidative byproducts (free radicals). Abstracts Research abstracts that I've collected about CoQ10 can be found here. Coenzyme Q10 deficiency [to be added] Research overview
Diet and nutritional interactions CoQ10 is both obtained from the diet (primarily from meats) and synthesized endogenously in the liver and kidneys. Endogenous synthesis requires the following precursors (Folkers 1996):
Drug interactions
Safety and side effects
Dosage and administration In anecdotal reports (see below) by parents of infants and young children with PWS, CoQ10 doses have ranged from 30 mg/day to 300 mg/day. In general, I would start at the low end of that range (e.g., 30 mg/day) and wait a few days to judge the response. If there is minimal or no response, then I would consider increasing the dose by 30 mg/day, waiting a few days to judge the response, and so on. You will need to use the advice of your health care providers and your own judgment and intuition in deciding what the maximum dose should be in any trial of CoQ10 in your child.
Anecdotal reports Unfortunately, there have been no clinical studies of the efficacy and safety of CoQ10 for PWS, so aside from the general research literature about CoQ10, we are forced to rely on anecdotal reports by parents who have used it for their children with PWS in terms of judging its effectiveness, doses and safety for PWS. Kathryn McGhee, membership director, Foundation for Prader-Willi Research Hannah, who was breech, was born in Atlanta in June 2001 by emergency c-section at 34-1/2 weeks. She was 19 inches and 4lbs 9ozs. I had a lot of amniotic fluid and at 34-1/2 weeks I was measuring 41 weeks.
Hannah had all the typical symptoms of PWS although the doctors did not think she had "the look". We received her diagnosis at 12 days and after learning how to place the naso-gastric (NG) tube, she was sent home at 17 days old. We were instructed to try and bottle feed her as much as we could and use the NG for the rest. Hannah had never been able to maintain her body temperature, so we were instructed to keep an eye on her temp.
I took her temp almost hourly and on the 4th day she was 95 rectally so we went to our ped. Of course PWS masked all the symptoms that she was ill, but luckily I was taking her temp often. Our ped sent us to the ER. She barely made it through the night and the next day we were told that she had severe aspiration pneumonia and that she would not have lived much longer.
Anyway, she was put on a vent and stayed in the hospital three more weeks as we did swallow studies, ph probes testing for reflux, etc., etc. Two days before she went home, I got Dr. Judy's CoQ10 in the mail. I gave it to her that day via her ng at the hospital. Within 12 hours of taking it, her body temp went to near normal and she NEVER needed the warming lights again. (Up until that point she was being "warmed" at least 4-5 times a day.) Within 24 hours she was "strong enough" to cough. And...... she was awake for about 30 minutes that next day... and the next and the next and she gradually had more and more awake time. I kid you not when I say that she was probably "awake" about 30 minutes the whole first 5 1/2 weeks of her life. It was so neat to finally see her little eyes OPEN. The doctors and nurses watching her were really amazed at what they saw.
Back in 2001, Dr. Judy said that Hannah was the youngest kid that he knew of to ever start taking CoQ10. She started taking it right around her due date. Hannah started HGH at 3-1/2 months. Hannah sat up at 8 months, started pulling up around her first b-day and walked at 15 months. (If you adjust for prematurity, she was around 13-1/2 months.)
Hannah is apraxic and is severely speech delayed, but has made huge progress and is using 4 and 5 word sentences at 5-1/2. She definitely still has articulation problems. She might say "I want go see Ben," who is her friend.
Unfortunately, the hyperphagia kicked in with her right around her 2nd b-day. I feel she is one of the extreme food seekers and we have everything locked up very tight. She definitely has some things she doesn't like to eat, but not very many. Luckily, she does not like dog or cat food or anything like that.
Hannah is tall and thin and beautiful. She can be so sweet and loving and funny with a great sense of humour and a love of babies and animals of all kinds. She is a joy most of the time, but she definitely has her moments (tantrums) and many times it is about wanting to eat.
Debra Robinson (from PWSA of Ohio) "Our only son, Andrew was born [in 2000] with Prader-Willi Syndrome. He was a floppy baby, his cry barely audible. It was a struggle just to keep him awake. For the first five months he was tube fed. At six months he began to slowly make progress. He could lift his head and roll over. At nine months, he was sleeping 20 to 22 hours a day. At 12 months he sat momentarily, but would then fall back. We were thrilled to start Andrew on Growth Hormone (GH) therapy at four months of age, but for us that wasn’t enough.
It was one week past his first birthday when we started Andrew on Co-enzyme Q10 (CoQ10). That morning in September, I squeezed out the CoQ10 on a spoonful of oatmeal and fed it to Andrew. At that age Andrew wasn't crawling yet, he just rolled. A few hours later, I noticed he was rolling a lot faster. I reported this to my husband who could hardly believe me. I then put Andrew in his Johnny jump-up®. For the first time he jumped and he smiled more then I have ever seen him smile. I put him in his walker which he pushed across the floor albeit backwards, but until that day he never moved it more than an inch. My husband was quick to get on the internet and discovered that because of Andrew's young age and the fact that he was already on GH immediate results were possible. That evening I gave Andrew his bath for the first time he sat straight up without leaning over the tub. The physical therapist stated that fact he is now sitting up indicates an increase in strength.
That same week all three of Andrew's therapists, physical, occupational and speech noticed an increase in his awareness. He no longer had the glassy eyed appearance. He was interacting with his environment and with his sisters. He could make eye contact and keep his focus. He cried a little louder and slept a lot less.
Progress came more rapidly. He learned to point and to feed himself. Within eight months he went from sitting to walking. At 20 months he can independently walk a short distance. He can go from a sitting position to a stand without holding on. His metabolism has increased to normal. He can say approximately 6 words, although randomly and sign for two more. He climbs up and down stairs. His sleeping pattern and energy levels are both normal. He can scribble with purpose and has never stopped smiling. Andrew's progress is due in part to his advanced age, early intervention therapy and growth hormone therapy. However, the impact of CoQ10 can not be ignored.
CoQ10 - A Personal History by Kathy Funk (from Prader-Willi Alliance of New York Newsletter, Fall 2002) Here is an accurate history of Emma's response to CoQ10 with some background history to put the information in perspective. I had a normal pregnancy but Emma was breech and was turned externally by the doctor, at seven months.
At birth she had no cry with extremely low muscle tone. She made no movement at all along with a very weak suck. As a result she spent three weeks in the intensive care nursery. During this time, Emma was tube fed through the nose and had two muscle biopsies performed. At six days of age Emma had a gastric tube inserted. These were devastating times.
Finally we were sent home with an incorrect diagnosis of Wherding Hoffman disease and a Do Not Resuscitate order. Emma had no movement at all until three and one half months of age when she began to move her fingers and one arm. She entered the early intervention program and received physical therapy, occupational therapy, speech therapy, nutrition assistance and special education.
By five months Emma could move her arms and legs but could not lift her head. At seven months she was correctly diagnosed with nondegenerative mitochondrial myopathy (nuclear defect) by Dr. Phillip Riback. She was prescribed to take 30 mg of CoQ10 daily. Within days she began to lift her head. At 60 mg she began to crawl around the room on her butt. She never crawled normally because she had no shoulder strength. She would also travel around by rolling. Two months later at eleven months her dosage went to 90 mg. Again within days she began to vocalize more, could sit independently and could pull herself up to a stand. By thirteen months and 180 mg daily she was walking and had a clumsy run.
By age two Emma was hitting most of her developmental milestones, although there were still some physical therapy and occupational therapy delays. She began to gain weight aggressively. At two years and one month she was diagnosed with Prader-Willi Syndrome (UPD) by Dr. Darryl De Vivo. What we thought was her primary diagnosis became secondary to Prader-Willi Syndrome. She is now a patient of Dr. Angulo (a pediatric endocrinologist who pioneered the use of Growth Hormone in the treatment of Prader-Willi Syndrome) and began Growth Hormone treatment at four years of age.
Up until age two Emma had been taking CoQ10 tablets. I had read that CoQ10 was better absorbed in a soft gel lipid form so I began to search for a source. I contacted Dr. Judy. He educated me regarding CoQ10 and I educated him regarding Prader-Willi Syndrome. In May of 1999 Dr. Judy recommended CoQ10 soft Gels with the CoQ10 in rice bran oil.
On 300 mg tablets Emma’s blood level was 4.5x greater than normal. We started 300 mg soft gels and eight weeks later retested her blood level which was now 6.4x greater on the same dosage but now in a soft gel form. I also felt her comprehension skills had become sharper.
Because the absorption level was so much greater we thought it might be possible to reduce the dosage. We reduced the dosage to 200 mg. Within two days her muscle tone was noticeably lower and she began to walk with an unsteady gait. We went back to 300 mg soft gels and her strength returned. She remains on 300 mg CoQ10 today at age five.
Emma has had two cognitive assessments in preschool, the most recent this past March. These cognitive scores are in the low average to average range. Her language and reading readiness are age appropriate. She continues to have some articulation issues. Her gross motor delay is twelve months, her fine motor delay is eighteen months.
This chronicle of the success we have had with CoQ10 should only be used as an example and not as a treatment. PWSA (USA) will soon be publishing more information on CoQ10.
"PWSMom" (from PWSNotes.org) My son went on CoQ10 at 6 weeks and started moving vigorously 2 days after starting it. We have no proof that it was the CoQ10, but it makes for a good story and he has been on it ever since.
Effects of CoQ10 are really poorly documented. Rumor has it that it improves alertness and increases activity. Rumor has it that it doesn't work for all kids. Rumor has it that it is more effective in infants than in toddlers.
[...]
It is not clear to me how or why CoQ10 works or even if it works. There are no real studies on it. That said, rarely are there good studies on nutraceuticals. There just is no financial incentive to invest in a clinical study of something that can't be patented. While there is no proof that it works, it seemed to help my child and I am willing to pay for it ($10/month?) and go through the hassle of administering it. And, most importantly, the physicians I consulted agreed that it can't do any harm.
Update from November 2005. Our son is now 18 months old and we took him off CoQ10. We made the decision because we forgot to give it to him for several days in a row. We noticed no decrease in energy or activity. My son can't yet walk but he is a power crawler and constantly on the go. This didn't change without the Q10. So, who knows? We felt that it made a difference during his first year of life. When we would occasionally forget it, he seemed more sluggish...
"Another Point of View" (from PWSNotes.org) I did not start my son until he was 18 months [old]. I want to say that he would never go a day without it. He is now 27 months old. The benefits I, therapists, teachers, and family members notice are his high energy, alertness, cognitive and speech ability. Also it may help him with his muscle tone. He started it the same day he did [growth hormone - GH]. So we never knew what was doing what, but once over 3 days he missed his CoQ10. And he was floppy again. He was like a noodle when he tried to stand and his facial expression was droopy. His alertness was down and so was his speech. His therapist/preschool teacher asked me what was off about Luke and I said it was definitely the CoQ10. She didn't know he was taking anything other than GH. I told her what it does and she agreed he needed to never skip. Also I have noticed that he may go on sleeping marathons (as I call them) when he doesn't get his dose. He is truly CoQ10 deficient. I do greatly regret not giving it to him when he was in the NICU. I have to be honest - I was afraid to for many reasons.
Update - Feb 5, 2006. Again at the age of 3 years and 5 months we lapsed for 7 days not giving him his regular dose of CoQ10. This had been a conscious decision. We felt all should be fine. Also we asked our endo and he said it was up to us being, that he found the studies to be inconclusive. No one was just on CoQ10 - they were on both it and GH, so the parties weren't sure whether it was a combined effort or either independent of each other. Well, at day 7 my son woke up trembling and saying he was hungry and wanting to eat. He has NEVER had this behavior. He was crying and wanted breakfast and milk. Well, we went back to bed, too early for me and all morning he was asking over and over for different foods specifically by name and lunch and snack. There was no reason. He had a great breakfast with his CoQ10. Well, by lunch I had to chase him back to the table to have lunch. He hasn't mentioned it again and is active and interested in everything else like he normally is when on CoQ10. This has been a lesson for me.
"Yet another viewpoint" (from PWSNotes.org) I'm one of those parents who give my son 180mg of CoQ10 a day (ever since I got his dx 2 yrs. ago). [...] I don't know if it was just coincidence and would have happened anyway, but my son, at 3 yrs 7 mths., from not saying very much but understanding a lot, started speaking in 2-word sentences, then 3-words, then 4 words and now he can say almost anything and use and understand fairly big words - I don't even limit much the use of words when I'm addressing him, as he's shown me he's quite capable of handling their meanings. He also seemed to have lots more energy in walking, running, everything - it could be just that I used to put him in the stroller as I took pity on him having to walk, but threw it away when I got his dx, and so he became stronger and leaner with all the exercise. Then, one day, after a very long, tiring day out on the beach (where he walked and walked and refused to be carried), we came home and I asked my husband to put him to bed as he was probably 'bushed'. My husband accidentally gave him another 180mg of CoQ10 (forgetting that we had changed from night-dosing to morning-dosing). I couldn't understand why that evening he kept on going like an energizer battery, pulling my hand to shoot basketballs, to chase him, etc. He had no trouble getting to sleep when we finally did put him in, but the next morning, my husband confessed to me what he had done. So, that convinced me that the CoQ10 must be giving him energy. I don't know about the other parents, but prior to his dx, my son was really lacking in energy. We haven't stopped since, as he needs every ounce of energy booster to be alert in school. He wasn't on GH then, so I know that something that we were giving him (not the GH) was helping him with the energy. Flax seed oil? Vitamins? It's March break here and I'm trying to hold back the CoQ10 till after noon to see if he shows a lack of energy, but it's too short a time each day to tell, so far.
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