The Link Between VCFS and Learning Disabilities, Mental Illness, and More

The association between learning disabilities and a range of behavioral problems and even psychiatric disorders has been established in a number of different genetic syndromes and in some segments of nonsyndromic cases. There is a problem in talking about learning disabilities as a single condition....it is not. Learning disabilities have many causes, ranging from genetic syndromes to prematurity. VCFS presents as a genetically "pure" sample in that essentially everyone who has the syndrome has learning disabilities and there is some consistency in terms of brain findings and neuropsychological findings. In people who don't have VCFS, the process of understanding the links between LD and psychosis will be much more difficult because the root cause of one or both of the problems is not known. In VCFS, we can focus in on the deleted genes and biomarkers for the syndrome to help us understand the relationship.

Robert J. Shprintzen, Ph.D.
Director, Velo-Cardio-Facial Syndrome International Center
Professor of Otolaryngology
Professor of Pediatrics
State University of New York Upstate Medical University
Syracuse, NY, USA

Center web site: www.vcfscenter.org

Hi, I have a 19 year olde son who is currently in college also. Since colleges do not communicate with parents and my son has been trying to hide his grades, I just found out that he is failing most of his classes. At this point, I am not sure what to do. I was wondering how your son is doing?

Cathy Cheng

NY

Always a pleasure. Regards to the family.

Dr. Bob

Laura,

Being tired can have many possible causes, including heart problems, low oxygen saturation, and more. It is obviously important to have it checked out. A number of tests should be done, including a look at his larynx, a serum bicarbonate to see if he is storing carbon dioxide in his blood (called acidosis), and an echocardiogram. It would also be important to determine if he is having any evidence of sleep apnea which might be expected in a child with a history of laryngeal web and tracheotomy. He may have some tracheomalacia. It is important to approach this with an understanding of VCFS and the possible factors involved.

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I must stress that I am addressing issues about VCFS in general because I know nothing about your situation other than what you have written. This cannot be considered to be medical advice about your son specifically. Getting important health care advice from a web based blog is no substitute for direct medical care from qualified professionals.

Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA

Phone: 315-464-6590 or 6597

Center web sight: www.vcfscenter.org

Center email: vcfs@upstate.edu

Laura, My son is now 11 and we experienced the lathargy and weakness as well.  He was also very small.  It appeared as though he was not growing and having malabsorbtion issues.  Once tested he was found to have low T-1 cell counts, low zink and low vitamin D.  After a visit with a growth hormone specialist, he has been on daily injections since about age 4 and his activity, strength and all around mood has improved.  He aspires to be an NBA player and without these injections I believe we would have stayed on a very challenging path.  Check with Dr. Cheryl Hanna Oregon Health Science University for more information on testing to see if this would help your child.  You also did not mention if he had a heart defect.  Brady was 2.5 when the dentist finally diagnosed Q22 and then we discovered the PDA that lead to the enlarged heart.  Has he been to a cardiologist.  We have many specialist in our life.  You have to have a great primary care Dr. who understands Q22 or a genetisist willing to help you keep it all together. Teresa Barnard,

Laurie,

The description of your nephew's situation is not unique. The research issue we have been working on lately is trying to recommend treatments that should counteract the genetic deletion by replacing needed chemicals in the brain. I cannot be more specific than that on the web for a number of reasons, but we have certainly seen some very good results while the use of more "typical" drugs in VCFS has been less effective. I would be happy to go into more detail, but this discussion would have to be with your nephew's guardian (yes, HIPAA needs to be obeyed) and the discussion would need to be private.

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Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA

Center web sight: www.vcfscenter.org

Center email: vcfs@upstate.edu

Hello Dr. Shprintzen,

My name is Linnea, and I am Nates mother, of the above mentioned posting.  Although it has been many many years, we meet at the 1st VCFS conference at Stanford University.  Nate has been a patient at Stanford from the day he was born, and it was through Stanford that Nate was diagnosed with VCFS.  He was also a participant in Dr. Eliez research many years ago as well.  As noted above, Nate is in a continuing struggle to maintain stability.  

I have two additional questions for you:

How can I have his County Doctor here in Santa Cruz contact you for additional information on recommended treatment and can you provide any contact information on who at Stanford Medical might be available for additional appointments to work with in finding the right treatment program for Nate.

Thank you for your time and your dedication to VCFS.

Linnea Edwards

Linnea,

Stanford seems like 100 years ago, but that was actually our third meeting of the Educational Foundation. It was a terrific meeting.

Your doctor can contact me at any time at my office. All of my contact information is shown at the bottom of this reply. As for specialists at Stanford, I'm not really sure who is providing care for people with VCFS now. It also depends on exactly what kind of care your son needs. If it is in relation to the previous emails and psychiatric issues, I don't know if Dr. Carl Feinstein is still involved with patients with VCFS, but he would be a good place to start. Dr. Eliez is obviously back in Switzerland, and Dr. Gothelf who followed him in the research program is in Israel. I can tell you that our program will hopefully be starting some clinical trials of treatments this summer, probably in August. If this might be something that your would be interested in, we can speak about the program to let you know the status of the trial.

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Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Telephone: 315-464-6590 or 6597

Syracuse, NY, USA

Center web sight: www.vcfscenter.org

Center email: vcfs@upstate.edu

Wow, this is the nugget of information I am looking for in relation to my son, 23, who has VCFS and is in a bad way right now. He has recently been withdrawn for Aripiprazole and is now on Quetiapine with Lorazapam at a low dose for anxiety as his psychiatrist thinks he is highly anxious due to Autism. This diagnosis (2nd opinion) is at odds with his last psychiatrist who thought he was psychotic, perhaps schizoaffective. We are confused, but know that he has been in a bad way for the last six weeks. He was in care, but couldnt cope with being seperated from his family, eventually the care home couldnt cope, so he is home with us, and we are struggling. How can I find out this information as I am in the UK? I am reading Quinns book, but jumped to the back for the website, now hope you can help? Please?

Mr. Hicks,

At present, to the best of my knowledge there is a lot of study of VCFS from the psychiatry community in the U.K. There are only a few pockets of research around the world focusing on this aspect of the syndrome. In Europe, the most productive has been at the University of Geneva in Switzerland where Dr. Eliez and his team have done some excellent work. Dr. Kieran Murphy in Ireland (Dublin) is also familiar with VCFS and he might be a good resource for you, as well.

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Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA

Center web sight: www.vcfscenter.org

I think that a part of the issue is addressed already by your recognizing the need to have a coordinated approach. Because VCFS is a more common disorder, the larger number of cases has warranted the establishment of specialty Centers like my own that deals with the disorder the way you would like for SMS. We have also established a Center here for other disorders like SMS and I suspect there may be places near you that are trying to do the same thing. If you will let me know where you are (you can do this to my personal email address) perhaps I can let you know what is available close to you. My contact information is listed below.

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Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA

Center web sight: www.vcfscenter.org

Center email: vcfs@upstate.edu

Kara,

OCD is well-known to be a part of the psychiatric spectrum of VCFS and there are more than a few articles in the scientific literature that have described it. Our group here at Upstate Medical University, groups in Israel and Switzerland, and others here in the U.S. have published on OCD in VCFS. The issue of the lymphoma is new to me, but one needs to keep in mind that white blood cell abnormalities are common in VCFS, as are a number of autoimmune disorders and abnormal responses of the lymphatic system. Is it safe to assume that a biopsy has been done to confirm the diagnosis?

Dr. Shprintzen:

I am having major concerns about my stepson who has VCFS.  He has lived with me along with my two dtrs and two of his siblings for 1 1/2 years, and his dad.  His behaviors regularly consist of thinking people are staring at him to the point where he is screaming and covering his face, I have observed and see no one staring at him. I have secretly observed entire meals where it seems normal, all other kids are eating and he starts accusing them of staring.  He seemed a bit better over this summer, but turns out was doing this at his summer day care.  He was also kicking kids and "flipping them off". One He stabbed his brother in the hand with a plastic fork.  This child told his dad but was brushed aside as "you must have doen something to deserve it"  He responds to any type of correction as retreating to a corner and covering his head, later he will have an outburst to one of the other kids saying it's all their fault he got in trouble, this with hitting and yelling (and may not even be a kid that was anywherenear the initial incident.  The corrections from me is usually just a time out with no anger shown and often the offense is hitting or destructing items.  Lately since school started again he is back to these behaviors full force at home.  Telling my dtr to "shut up" and "knock it off" in church when she was singing.  He is home when I get home with my girls from school he will often greet us with yelling, more recently accusing dtr of stealing his DS, when I asked further questions he said he actually left it at his mom's and smiled.  My older dtr has recently been angry toward him which is completely new, she says he will call her names when she walks past him.  I have addressed this with his dad who states anywhere from it's just how he is to the other kids must have done something prior that we didn't see.  I have closely observed interactions over the past few months and don't see instigating from his siblings and stepsiblings,they actually try to placate him or avoid him.  I have done these observations in hiding.  He will search them out in the house and immediately start fighting with them.  The other children are by no means saints, but there interactions are not as violent and they will respond to correction. I am reluctant to further discuss this with Dad but I don't know how long I can let this go, it is getting worse.  Yesterday he was cutting out things with a large pair of scissors and walked up to two siblings and made small thrusting motions at them with scissors pointing at them and said "I'll get you". Dad doesn't see this as much as he is at work or stays busy outside and son is usually inside, I can't approach his dad on this as he gets extremely defensive.  My stepson also has issues at school and has more recently been caught being the bully.

I would like to see him go to a Psychatrist but not sure if there has any backing from medical advice for this.  He does take a low dose Wellbutrin and if he misses a dose he is much worse in his behavior.  Lately I have been inquiring if he has even gotten his meds due to his increased behaviors,I am assured that he has.  He is 12 years old.  I think he is much more functional then his parents want to see and that he is experiencing some psychiatric issues that need to be addressed. 

Thank you,

Nancy

Cathy,

I remember you and Raymond quite well. I am actually at a meeting in Manhattan through tomorrow and will be back in my office on Thursday. It would probably be best if we spoke by telephone. You can call me on Thursday in the afternoon after 1 P.M.

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Dr. Robert Shprintzen, Director

Professor of Otolaryngology

Professor of Pediatrics

VCFS International Center

Upstate Medical University

Syracuse, NY, USA

Center web sight: www.vcfscenter.org

Center email: vcfs@upstate.edu

Dear Dr. Shprintzen,

My office actually is right in mid-town on Time Square. I am not sure if you have any time today. ( Sorry to ask. I know you are very busy). If I do not hear from you, I will call you tomorrow afternoon. ( my office # is 212-221-3753).

Cathy

Many of your questions, although very important to you, are not those that can be answered without having much more information than can be gleaned by an email. In terms of your general questions, most children with VCFS finish high school with some accommodations, and many have gone on to college. But there is major variation in the expression of the syndrome, so what is true for one person may not be true for another. Predictions about education, mental illness, etc. cannot and should not be made via a web site without personal knowledge of a patient. I hope you can appreciate that this would be a very irresponsible thing for a professional to do. These are the kinds of issues that our Center focuses on when we evaluate patients and follow them longitudinally which is a very important component of care.

Dr. Shprintzen

VCFS International Center

Upstate Medical University

Syracuse, NY

email: vcfs@upstate.edu

web site: www.vcfscenter.org