VCFS 22q11 Awareness Week

Hi everyone,

I have been very busy lately and I haven't blogged for a while. So now is the perfect time. This week is the VCFS 22q11 Awareness week in Australia and in many other states across the USA. I feel its is very important for us to share information about this condition.

VCFS affects approx. 1 in 2000 - 3000 persons making it the second most prevalent genetic syndrome after Down syndrome

VCFS is the most common genetic syndrome associated with cleft palates

VCFS is the second most common genetic syndrome associated with congenital heart defects

99% of the VCFS population will have a learning difficulty or disability

30% of the VCFS population will develop a mental illness

VCFS has more than 180 anomalies associated with it

I read an article the other day where a man was not diagnosed until he was 43 after 30 years of seizures!!!! Why oh why does this have to happen. If VCFS 22q11 affects 1 in 2000 why on earth do most professionals in the medical industry not know about it?? LETS CHANGE THAT

It doesn't take a lot to spread the word. I urge all of you to share information about VCFS 22q11 on Facebook, Twitter and all other social media avenues. Email friends and family world wide. Share a link to our website.

I am dedicated to making this disorder a household name. Some might say its a bit of an obsession with me. Well they may be right. I just feel that I cannot sit back and let people go untreated, mis diagnosed or not diagnosed at all .

Please help me on my mission!!!

Maria Kamper
President
VCFS 22q11 Foundation
http://www.vcfsfa.org.au/

VCFS 22q11 Foundation Conference Sydney 2011

2011 Conference & AGM

28th August 2011 , 9.00am

The Children’s Hospital Westmead

Lorimar Dodds Auditorium

                              

AGENDA

8.30am                Registration / Morning Tea

9.00am                Maria Kamper - President Welcome

9.10am                Laurie Taylor – AGSA , What does AGSA do & Sibling workshop

9.30am                Tony J. Simon, Ph.D , UC Davis M.I.N.D Institute  -Integrating Cognition, Emotion & Psychiatry for Treatment in 22q11.2DS Via Video

10.00am              Dr Linda Campbell – Centre for Brain and Mental Health Research University of Newcastle

10.30am              Madeleine Randell (Hons student) - "Attitudes to sexuality, relationships and parenting

10.40am              Emma Gallagher (Prof Doc Clin Psych student)- Depressive symptoms in adolescents with velocardiofacial syndrome as they transition into emerging adulthood"

10.50am              Lisa Phillips (M Clin Psych student) -"How do young women with Velo-cardio-facial syndrome view their personal relationships, sexuality and parenthood?"

11.00am              Brooke Sinderberry - (PhD candidate) "Resilience in children with chronic illness"

11.30am              Neil Nicoll – Behavioural Psychologist -  Social Skills

12.00                             AGM

12.15 pm              Lunch with the Experts

Meredith Wilson – Clinical Genetics Westmead Childrens Hospital

Neil Nicoll – Behavioural Psychologist

3.00pm                Kathy Angkustsiri, M.D., Behavioral Pediatrician, UC Davis M.I.N.D Institute -  Anxiety in Children with 22q11.2DS and its Effect on Functioning Via Video

3.30pm                Maria Kamper – VCFSEF 18^th Scientific conference review

4.00pm                Afternoon Tea

Workshops

9.30am – 3.00pm        Sibling Workshop (children to join craft at conclusion of their workshop)

9.00am – 4.00pm        Craft/Activities Workshop

Treadmill for 22q

On the 25th August 2011 a very special person will be taking to the treadmill in her local gym to raise awareness of VCFS/22q11.2 Deletion Syndrome. @carolinedwyer found out her daughter had 22q only recently. Her daughter is 13 years old.

Our website http://www.vcfsfa.org.au/ will soon have details of how you can sponsor or donate to Carolines treadmill walk. All money will go towards the VCFS 22q11 Foundation.

We will also soon have wrist bands to support this cause as well.

If you have any prizes you could offer as a donation towards the raffles Caroline will be holding during this walk please contact the foundation.

It is so great to see so many people taking the challenge to raise awareness of 22q and VCFS.

It is the 2nd most common genetic syndrome in teh world but still so many  parents are waiting so long to get a diagnosis. We need to bring this syndrome to the pulic arena and help others who have not been diagnosed

22q at the Zoo 65 Cities

If you are a part of the VCFS/22q11 community it would have been hard for you to miss out on all the hype that has surrounded the last 24 hours across the world in relation to VCFS/22q11.2 deletion/DiGeorge/Shprintzen Syndrome etc..

In 65 Cities and in more than 13 countries spanning 3 continents thousands of people joined in the campaign to raise awarenss of 22q11.2 Deletion Syndrome. The second most common genetic syndrome in the world!!!

This initiative began as a local awareness campaign organised by the International 22q Foundation, the 22q and You Center and The Dempster foundation, however with social media it has become a phenomenom for all those affected by 22q11.2 Deletion

It really doesn't matter what organisation you are a part of, support, rely on etc...  This day has proven that we are a community. A community of medical professionals, patients, celebrities,  families, educators, not for profit groups and support groups.

Our qualifications, prestige, celebrity, income and demographics were pushed aside for the first time and we were all equal and joined in our reasons for being a part of this day. That is to RAISE AWARENESS OF 22q 11.2 DELETION SYDNROME.

Lets keep this rolling, lets continue to be united as one, lets forget the arguments about what it should be called, lets put our egos aside, lets learn from each other!!!!!!!

We are all in this together that is for sure. Lets remember the saying

"UNITED WE STAND DIVIDED WE FALL"

Congratulations to each and every member of the VCFS/DiGeorge/Shprintzen and 22q community.

Maria

VCFS 22q11 Foundation: 1/2 Marathon for kids with VCFS

VCFS 22q11 Foundation: 1/2 Marathon for kids with VCFS: "This year we not having a fundraising dinner for VCFS, however we do have a fantastic guy/ parent of a VCFS child who in the past 3 ye..."

1/2 Marathon for kids with VCFS

This year we not having a fundraising dinner for VCFS,  however we do have a fantastic guy/ parent of a VCFS child who in the past 3 years has turned his life around from fat couch potato to Iron Man.

He is 3 weeks away from participating in the Port Macquarie ½ Iron Man Marathon. He is running for VCFS and raising funds to  help send the kids on a much needed retreat/camp. This would be the first camp of its kind in Australia for VCFS Kids.

I urge you to read his blog and if you are able donate to the cause,  so all the kids get this fabulous opportunity.

Also remember to send Scott a word of encouragement.

Sometimes it takes special people to go out of their comfort zone to help raise awareness and money. I know there are many people in our communities that do this, but obviously this is one close to our heart. It is people like Scott that make me feel like all my work on the VCFS 22q11 Foundation is worthwhile.

http://slongden.wordpress.com/

You can also visit the VCFS site for details  www.vcfsfa.org.au

Scott in action wearing his VCFS hat.

PS: We are having a VCFS 22q at the Zoo day on May 22 . Just $14 pp  A fun day at the zoo that’s it! see our website for details http://www.vcfsfa.org.au/

WHO'S WHO OF VCFS / 22Q

As we know VCFS has many names and here is a list of the most common

• Velo Cardio Facial Syndrome
• 22q11.2 Deletion Syndrome
• DiGeorge Syndrome (DGS)
• Shprintzen Syndrome
• CATCH 22
• Conotruncal anomaly face syndrome
• Cayler cardiofacial syndrome

Whatever the name we are all in the same position; looking for information and support.

I have been chatting a lot lately to many different people and organizations from around the world and I must say it can be confusing trying to figure out who is who and which organizations are support groups or for research,  which are treatment programs and which ones are information/education organizations.
Well I have decided to group some of the main organisations so we know who is who of VCFS and 22q. There may be many more, however these are the ones I know. The information about each organisation has been taken directly from their websites and are not necessarily the views of the VCFS 22q11 Foundation or myself. I am not connected to any of these organisations except the VCFS 22q11 Foundation Australia of which I am president. I am a mother with a child who has VCFS/22q11.2 Deletion Syndrome.
I felt it important to separate the organisations to help us as parents understand what each organisation is for and what each can offer us as parents.


What I as a parent and President of the VCFS 22q11 Foundation would love to see in the future is all these groups coming together to form a collaborative or alliance to share information and treatments for the betterment of those affected and to assist in raising awareness of VCFS/22q across the international community.


Education Organizations


VCFS Education Foundation – http://www.vcfsef.org/ 
The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of -- and not affiliated with -- any particular institution. The foundation is run by volunteers and the head of the foundation is currently Executive Director,  Karen J. Golding-Kushner, Ph.D.


The VCFSEF is the only group I can find that is absolutely for education and information of VCFS/22q11.2 Deletion Syndrome. They are Not for Profit. They have an international conference every year and everyone in the VCFS/22q community internationally is invited to present and attend the conference. They are NOT a support group; they are NOT a research or treatment group. Their mission is to increase awareness and disseminate information to educate those with an interest in the syndrome. They provide clinical and research information for professionals and for those affected, and provide educational, clinical, and scientific information to the professional and lay communities. They do not recommend any treatment program over another, they do not recommend any support group over another, they do not provide funding for research, and they do not offer financial assistance for any person or organisation.


It is important to understand that the VCFSEF is purely to provide Education and Information about VCFS/22q to the international community. They do this through their website, conferences and newsletters. 
To me this is one of the most important organisations in the world. They provide unbiased information to aid in the education of the community about VCFS/22q11.2 deletion Syndrome.  I personally would urge all people in the international VCFS community pay the USD$40 membership so the conferences can continue in the future.


Treatments/ Research Centers (in no particular order)


M.I.N.D Institute (UC Davis CA) http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/


The MIND Institute's Cognitive Analysis and Brain Imaging Laboratory (CABIL, pronounced "cable") is directed by Dr. Tony J. Simon and funded by the National Institutes of Health. CABIL's mission is to investigate, explain and eventually treat the impairments in cognitive function experienced by children with neurodevelopmental disorders.


Upstate University Hospital NY http://www.upstate.edu/uh/ent/vcf/ 
VCFS Center


In 1997, Dr. Shprintzen established the most comprehensive program designed to assess the needs of people with VCFS and to develop the most effective treatments.  The Center has a faculty of over 30 professionals from more than 20 medical and ancillary disciplines who are devoted to the special needs of children and adults with this common genetic condition. The Center is a full time program with the most comprehensive care available anywhere and a large and active, full time research program devoted to this single disorder.

Children’s Hospital of Philadelphia 22q and You Center 

www.chop.edu/service/22q-and-you-center/home.html 


At the "22q and You" Center — established in 1996 — The goal is to provide the finest diagnosis, treatment and follow-up services to these children and their families. They also continue to lead the way in researching the 22q11.2 deletion, hoping to find out more about what causes it, how it affects children and how we can make their lives even better.
The national and international medical community recognizes our Center as the premiere site for the diagnosis and multidisciplinary management of children with a chromosome 22q11.2 deletion. Our staff includes geneticists, genetic counselors and other medical personnel specializing in the disorder.


The VCFS Clinic at Mater – Brisbane Australia
http://www.mater.org.au/Home/Services/Velo-Cardio-Facial-Syndrome-Clinic


The VCFS clinic at Mater has been developed to support children and young people to the age of 18 and their families. The clinic is co-ordinated through Kids in Mind and involves professionals from other parts of Mater Children’s Hospital.
The children and young people who attend the clinic may already be supported by other teams within Mater Children’s Hospital, other hospitals and other health professionals. The VCFS Clinic has been established to assist families coordinate their child’s care between a number of health practitioners while also helping to reduce gaps in services where they exist.
The clinic has two primary aims:
to provide coordination, clinical, and support services for children and their families

to have a significant research role in Australia and with international experts.

Chromosome 22q11.2 Deletion Syndrome Specialty Clinic - Colorado http://www.thechildrenshospital.org/conditions/genetics/22q.aspx


The Chromosome 22q11.2 Deletion Syndrome Specialty Clinic at The Children’s Hospital evaluates children with 22q11.2 Deletion Syndrome and provides comprehensive management and ongoing multi-disciplinary care for children and families affected by the syndrome. Our specially trained clinicians, who work with specialists at National Jewish Health, provide patients and families with the resources necessary to understand the diagnosis, determine the appropriate treatments and therapies and cope with the challenges involved with the syndrome.


I am sure there are other clinics across the international community. I have listed the most commonly known about clinics.


Support Groups
There are many groups around the world for the support of VCFS/22q11.


The VCFSEF has Regional Directors that can put you in contact with a support group in your area. http://www.vcfsef.org/international_network/about_international_network.html Visit the web site for information.


The VCFSEF United States Support groups Link http://www.vcfsef.org/support_groups/us_groups.html


The VCFSEF International Support Groups Link
http://www.vcfsef.org/support_groups/international_groups.html

As well as this here is a very short list of sites I know;

• VCFS 22q11 Foundation Australia http://www.vcfsfa.org.au/
• 22q Central http://www.22qcentral.org/index.html
• International 22q http://www.22q.org/
• The Dempster Foundation http://www.dempsterfamilyfoundation.org/about_foundation/
• 22q Ireland http://www.22q11ireland.org/
• Max Appeal UK http://www.maxappeal.org.uk/

There are many Social Networking Groups and Chat rooms. I will not list them here; however some of the sites listed do have links to them.


Research
There is much research being conducted across the world. Most of the websites listed above have links to the research projects.  To list them all here would be too difficult. The VCFSEF through the International Scientific Conference has speakers who provide information about the current research and outcomes. The smaller conferences around the world also provide information, results and outcomes as well. Keep yourself updated by regularly visiting the websites listed above.


Remember, support groups are NOT medical advisory groups or services; they are there to offer support and provide information. All medical treatment and related services should be referred through your medical practitioner and your medical care team.


I hope that the information I have given here is helpful and takes out confusion of the Who’s Who for VCFS and 22q.


Cheers
Maria Kamper

  

22q at the Zoo

E  News from the President

VCFS 22q11 Foundation

International 22q at the Zoo day is now in more than 43 countries. Come along for a day of fun whilst raising awareness of VCFS/22q11.2 deletion Syndrome.

International 22q at the zoo 

Contact person e-mail: Maria Kamper

VCFS 22q at the Zoo

Featherdale Wildlife Park

More Information

Time: 10.00

Date: 22/5/2011

Parenting - Its a hard Job - Looking after yourself is harder!!

As parents we all know that looking after our kids is the hardest job we have ever had to do. However, in saying this I realise that whilst it is on the top of our list of the most challenging things we have ever done, the one thing we are not considering is the number one priority and no. 1 job that we should be considering. That is looking after ourselves.

As a mother of 3 kids, I find myself working 24hrs a day to make sure that they have all their needs met. I make sure clothes are washed, food is available on request, sports games are attended, homework is done, toys can be found and fixed and the list goes on.

Well what I am learning as I get older is that if I don't look after myself and give myself ME TIME or US TIME for my husband and I then no matter how much I do for my children, I may end up resenting the life I have worked so hard to create.

The lesson here is that make sure you look after yourself as a Number 1 priority.  I often hear the phrase by many husbands "Happy Wife, Happy Life" well I think they are 100% correct. If I am happy with my life and I am getting enough ME time to look after myself then I am happy to do all the things for my children that they need. The children will also feel much more relaxed and happy within their life.

World Rare Disease Day

World Rare Disease Day

28th Feb 2011

Vivo Cafe

388 George Street

Sydney NSW 2000

6.30pm to 8.30pm

$35pp includes cocktail food and drinks

contact: president@vcfsfa.org.au

or book online www.vcfsfa.org.au

Tolerance!

Today I am writing about tolerance in the world. I read an article which spurred on a number of rants and arguements in facebook. The article was about whether children should be taken out to resturants or cafes with their parents. It went on to say that children disrupt others and that people with children should stay home or have coffee and meals at others homes. One comment was that Children should be seen and not heard!

I think the world needs to be more tolerant of others and understand that everyone has a right to go out. Not all children disrupt things. There are so many other things in this world to be concerned about.

I am a believer in discipline for children and that we should all learn to respect others as we grow up. What bothers me about this situation is that parents are being forced to hide from the public because they have children.

The sound of laughter and chatter of young children is a wonderful and innocent beauty. I am not saying that all kids are angels or that some don't need repremanding when they disturb others in cafes etc... What I am saying is that never judge a parent when a child acts out. Never judge until you have walked a mile in someone elses shoes.

More often than not when parents meet up at cafes with children in tow, it is usually one of the only times they get to go out and socialise and have some adult stimulation. In a world of so much pressure is it really necessary to condem parents who take their children out.

To all those selfish people who want to live in a world without children, maybe you should choose to stay home!

Supporting those who support us

Today my blog is about supporting others who support the VCFS 22q11 Foundation. We are very fortunate to have a number of people and companies that support us. Each and everyone of them is a wonderful and giving person or organisation. We have been affiliated with many of them for more than 5 years.

So I say to you, in a world full of take take take, its time to give! Give back to those who have given to us. Just a share or like on Facebook, or a small tweet on Twitter, a Digg on DIGG or book mark on stumble upon whatever your choice of social media one little word may help one of our wonderful supporters.

Here are some links to our supporters, if any of them can assist you in anyway I would personally recommend all of them!

Beautiful Soles

Boyd Design

Israel Smith Photographers

Tex Whitney Productions

Storage King

Mrs A in The Cove

If you want to know more about our foundation visit www.vcfsfa.org.au

Have a wonderful giving day!!

Maria

VCFS Supports World Rare Disease Day

VCFS 22q11 Foundation 

Proudly presents

World Rare Disease Day 

28th February 2011

Cafe Vivo

388 George Street, Sydney NSW 

6.30pm to 8.30pm
$35 pp

(only 70 tickets available)

Contact: president@vcfsfa.org.au 

World Rare Disease Day Tickets click here

Individual Education Plans (IEP)

This morning my daughter’s school called me to a meeting about her IEP for next year. Given that we are moving to a new school as we are moving away from our hometown, I was very grateful to the special ed teacher and class teacher for this. 

Every child with special requirements should be given an IEP and should be entitled to one, no matter where you live, what school you go to or how much money you have. 

So What is an IEP ??

The Individual Education  Plan (IEP) is a written plan developed by the parents and the schools special education team that specifies the students academic goals and the method to obtain these goals. There should also be a section relating to social skill and objectives.

IEP writing is one of the most important responsibilities of a special education teacher.

Understanding the sections will help you write with more confidence.

General Information

The first part of the IEP is general information. You need to be sure that phone numbers and addresses are correct. Also prepare the signature page which should include the student if the student is 16 or older.   When a student turns 16, they need to be part of transition planning, which will be part of the IEP.

Special Consideration 

This section should discuss the specific challenges the child faces eg: communication, behaviour etc..Any special requirements the child has should be noted in this section. 

Present Achievement Levels

Present levels are one of the most important parts of the IEP, and should be attended to first. This includes some standardised evaluations and tests to determine the child’s current achievement levels.

This section ends with strengths and needs. These can be taken directly from the Evaluation Report , but each need must be addressed either in the educational goals or the specially designed instruction.

The next section is for special services a child will receive, such as speech therapy, occupational therapy or adaptive physical education and includes the frequency and duration of services.

The last section includes supports the teacher will get, which may include training, consultations with the psychologist or behavior specialist, or in the case of the general Ed teacher, regular meetings with the special education teacher. 

Stress worse than ever!!

Article from Childhood Development Institute!!

By Dave Paltin, PhD

Does it feel like your “stress temperature” has gone up around ten degrees the last few years?  According to the American Psychological Association’s Stress in America survey, your kids are feeling it too.  The new survey details the impact of different types of stress on the family, and the news raises some serious concerns about how children are coping with it.  According to the survey, 17 percent of children who say their parent is always stressed are likely to feel high levels of stress themselves compared to two percent of kids who report their parents are never stressed.  This means that children are not only aware of the family stress, it is increasing their levels of stress as well.  The ill-effects of stress on children’s health is a serious problem, and we know from research that experiencing family stress creates unhealthier kids.  The APA survey provides further data that suggests children and teens likely often turn to unhealthy eating or passive, inactive behavior to cope with stress.  TV watching and listening to music are higher in stressed tweens and kids, perhaps contributing to the higher levels of pediatric obesity measured over the past five years.

Far from being “character building” for children, stress places children in a situation in which they are worried but have little or no power to correct the situation.  Children are perceptive, and quickly pick up on parents’ frustration, more frequent family arguments, and negative changes in the emotional tone of the family.  What happens when they feel this tension but can’t do anything about it?  Children translate these feelings into bad habits and behaviors.  The APA survey found that parents typically underestimate the amount of impact their levels of stress have on children in the family, which is easy to justify when parents are worried about a job or financial situation. 

Given the fact that parents have real worries and that they can’t just make their own stress disappear because of the kids, what can be done to help kids with the situation?

• Watch those negative offhand comments – Its natural to express the stress through comments like “We’re stuck” and “why does it always happen just when we are getting back on our feet,” but kids take these comments literally.  Try to replace these comments with suggestions for action instead, like “we’ve really got to figure out a plan to deal with our bills.”
• Take a walk instead of turning on the electronics – Role model good stress management by asking the kids to take a walk around the block or playing catch in the backyard.  Even a small amount of physical activity can help reduce stress.
• Teach the kids to be solution-focused instead of worry-paralyzed – Ask kids about their own levels of stress and worry, and help them understand how having a plan can make the situation better. 
• Make ‘em laugh – Laughter goes a long way in busting through tension and worry.  Try a family joke night or funny mime competition to keep things funny and active at the same time.

Cards on the table

See the article below about the Christmas cards that portion of sales go to charity. 

I wanted to point out that 100% of profits from the sales of the VCFS 22q11 Christmas cards goes directly to the VCFS 22q11 Foundation.  I would encourage you all to buy our cards and know that 100% goes to us!!!!! www.vcfsfa.org.au 

CHOICE looked into Christmas cards that give a portion of the sales to charity, and found even savvy consumers can misunderstand how much of their dollar goes to charity. Almost half the respondents in our online charity Christmas card survey expected that between 20-50% of the cost of a card would be donated to charity, and almost a third put that figure at 51-70%. With those figures in mind, it may surprise you to learn the actual percentage donated by many card providers.

 

Contents:

• 01Cards on the table
• 02Alternative charity gift giving

 

We found several charity Christmas card providers donating as little as 10% of the wholesale price of a card – which really amounts to small change. On the upside, charity cards are still a way to make a small contribution with an item you are likely to purchase at some point anyway.

• Flaming Rhino Design , one of the smaller greeting card providers we surveyed, donates 10% of the wholesale price. It has raised in excess of $410,000 for its chosen charity, The Salvation Army, since 1997 when the program began.
• Hallmark , Australia’s largest greeting card provider, contributes 10% of the wholesale cost of nominated card box sets to its chosen charity, the National Breast Cancer Foundation (NBCF) at both Christmas time and Mother's Day. This has resulted in donations totalling over $1 million since the program began in 2002.
• Of course, there are examples of card providers donating more than 10% too. Charity Connections is a small outfit based in Adelaide’s CBD that donates a whopping 79% of all proceeds to the 45 different charities it supports. The different charities and cards associated with them are listed on the website so you can choose who your money goes to.

However, probably the easiest way to ensure the highest amount of your money goes to the cause is to buy direct from the charity. Most now have websites where you can order online. One great example we found was the Cards4Kids program, which is run purely to assist Barnardos, a charity dedicated to helping children facing abuse or neglect. You can buy Christmas cards and other festive items online at Oxfam and Unicef. In these cases, all profits are delivered to the charity organisations. At Oxfam's website you can actually custom design your own printable cards or e-card, a personalised touch which is also a bonus for the environment.
While not strictly a charity, Mouth and Foot Painting Artists has been operating since 1956, allowing its members to completely support themselves through sales of their paintings, reproduced as cards and other items. Through illness, accident or birth defect, members have been deprived of the use of their hands, but taught themselves to paint with their feet or mouth. As the group is at pains to emphasise in its literature, "AMFPA is run by mouth and foot painting artists who want - not pity - but a chance to earn a living".

Other reasons to buy charity cards

Of course, buying a charity Christmas card provides more than just the sum of your donation. While the fundraising is an important element to charity Christmas cards, many organisations also see it as a way to raise awareness of a cause and a charity’s brand.

“Offering cards is just one way to engage people in our work at Christmas and spread brand awareness and goodwill,” says Barnardos Marketing Director, Jill Atherton. "The most effective way to help the children we care for is still to give a direct donation. That said, Cards4Kids, the social enterprise that produces and sells our cards, provides a valuable income stream and we are very glad to provide our supporters with the opportunity to involve us in their Christmas celebrations.” 

Missed diagnosis: 22q11.2 deletion syndrome

July 1, 2010

(PhysOrg.com) -- An article published in the June issue of the journalNature Reviews: Neuroscience provides one of the first comprehensive overviews of the genetic, neural and cognitive bases of a frequently undiagnosed congenital disorder with an array of complex genetic, medical, neurological, behavioral and psychiatric features: the often baffling chromosome 22q11.2 deletion syndrome (22q11.2DS).

Those with 22q11.2DS can display a panoply of congenital heart and oral/palatal/facial defects, other medical problems, intellectual disabilities and psychiatric disorders, so it often is mistaken for other conditions, said Tony Simon, a professor of psychiatry and behavioral sciences at the UC Davis MIND Institute and an author of the article.

"There is such a huge variation in the manifestation of 22q11.2DS that few physicians recognize it for what it is," Simon said. "But it's important that doctors be more aware of it so children can receive early identification services and management for each of the problems that may develop."

The condition's name describes a location on the 22nd chromosome, where a tiny bit of genetic information is missing: a microdeletion. The submicroscopic loss of DNA affects expression of some 35 to 60 genes. While it can be inherited, the mutation usually arises spontaneously. It is diagnosed using a test called fluorescence in situ hybridization.

Among the first to encounter children with 22q11.2DS may be pediatric cardiologists, because many children with the disorder are born with serious heart defects that require surgery at birth. Among these is tetralogy of Fallot, which occurs in nearly one quarter of people with 22q11.2DS. The defect, a complex of four heart malformations, is the most common cause of "blue baby" syndrome.

Abnormalities in the development of the palate and surrounding throat structures also are common in the disorder, as are facial abnormalities, learning disabilities, low calcium, thyroid and parathyroid levels, low muscle-tone and short stature. Immune-system abnormalities can make it dangerous for many affected children to receive certain live vaccinations.