Behavior and Learning

In school-aged Students with chromosome 22q11.2 deletion Syndrome

Conference held at U.C. Davis M.I.N.D. Institute

March 2009

Synopsis by Kelly Calcaterra

 

 This conference was organized and funded by Elwyn Genetic Services, a nonprofit corporation for  people with special needs in Pennsylvania. 

 

www.elwyngenetics.org

 

The Sacramento meeting was the latest in a series of similar conferences on 22q Elwyn has been organizing at sites across the country since 2005.  Their goal is to bring practical information about behavior and learning in children with the deletion to families throughout the US.

 

The location of the meeting was held at the U.C. Davis M.I.N.D. Institute.  A research organization specific to the ‘medical investigation of Neurodevelopmental Disorders’.  Dr. Tony Simon, PhD runs the Cognitive Analysis and Brain Imaging Lab (CABIL) at the M.I.N.D. institute.  Specifically, Tony is researching the explanations of the cognitive impairments manifested by children with 22q11.2, fragile x, and turner syndrome and to create/design interventions to reduce or eradicate those impairments. 

 

Frankly, this group is the only ‘west’ based research group focused on VCFS.  Of course they have a particular focus (the brain) which is just one of the many organs and systems VCFS can affect our children.  However, they hope to establish a ‘tele-medicine’ service like the Syracuse and CHOP teams with kids enrolled in their research.  They offer a full neuro developmental screening of 22q kids ages 7-14.   The also have planned for late 09, two versions (both a doctor and a parent version) of a Medical and Educational DVD.  This DVD will enable parents when given the 22q diagnosis a ‘plan of action’ for their children and a ‘what to expect’ whether it is for medical or behavior issues. 

 

Conference:

A. The first half day of the conference was to provide you with basic knowledge of the syndrome.  It started with a brief history and definition of what 22q11.2 Deletion Syndrome is.  They explained chromosomes and why names like DiGeorge, VCFS, Spritzen Syndrome are used and how they are all the same syndrome, 22q11.2. 

 

The many Behavioral/Psychiatric/Educational Diagnosis that each of our VCFS kids receive.  An explanation of each diagnosis:  ADHD, PDD, Autism, Bipolar, OCD, Anxiety, NLD etc and how it all relates to one another and how services can be provided.

 

B. The cognitive profile and academic achievement in 22q were explained.  Which areas of the brain are affected and how it relates to their performance.  NLD – Non Verbal Learning Disorder was explained in depth as 22q kids fit the NLD profile. 

 

Tony Simon explained the impairments with space, time and numbers.  Bottom line - the circuits in their brains are woven and connected differently and it causes these deficits.  22q kids go slower and make more mistakes or undercount when attempting to count larger and larger group of numbers.  Grouping things together to count items in space takes more executive function.  A good frame of reference is looking at two digital cameras – one is a 1 megapixal camera and the other is 10 megapixal.  Our kids require larger (& thus fewer) elements to represent space and time.  Since their resolution is lower it impacts mental computations.  With the MRI brain scans they have been able to determine exactly where in the brain these computations occur and the connections between. 

 

 

 

 

 

C. The elephant in the Room!  The Psychiatric Risk Factors of 22q

Schizophrenia – 25x greater risk than the general population

ADHD – 35-55%

Bipolar Disorder – 30%

OCD – 33%

Autism – 14-50%

 

They provided specific early warning themes and signs so parents know what to look for and what to do if early symptoms manifest.  They provided information on a study being held at UCLA on cognitive function and brain structure. 

 

Joel Stoddard gave the initial results (has not been published anywhere yet) of his study with 20 adolescents with 22q to see if there were sign of the development of Schizophrenia.  Half (50%) of the kids in the study did end up having significant attenuated (mild or subclinical) symptoms.  Measuring the change in intensity of these attenuated symptoms is the most common way of trying to predict schizophrenia.  Resulting implications were:

1. schizophrenia is not likely to develop in 22q kids without warning
2. current research in the early detection and preventative treatment will help
3. Attenuated symptoms of schizophrenia may be more common in 22q people than previously thought (originally thought up to ¼ of adolescents)
4. The occurrence of symptoms does not necessarily mean 22q kids will develop schizophrenia – it can be managed, controlled or possibly prevented. 

 

D. Behavior Intervention – practical approaches.

This presentation gave the ‘abc’s of behavior (Antecedents, Behavior, Consequences)

Antecedents – what happened before the behavior, what triggered the behavior?

Behavior – the observable, recordable action

Consequences – what happens after, corrective feedback, time out

 

They provided successful strategies and resources for challenging or problem behavior.  For example - rein forcers, structure/routine, avoiding information overload, timers, and experiential approaches. 

 

Evidence based – research of techniques, programs and interventions that can be applied in the school and home setting. 

1. Speech and Language Interventions
2. Reading Interventions
3. Mathematics Interventions
4. Executive Functions / Attention
5. Memory Devices
6. Written Language Interventions
7. Anxiety and Depression Interventions
8. Cognitive Behavior Therapy
9. Family Interventions/ mental health services

 

 

 

 

 

E. Education

Math Instruction for Students with 22q – the presenter was a local northern California math teacher who has a daughter with 22q.  She spoke about specific interventions in the math classroom.  What was interesting is she has chosen a school for her daughter with mostly Spanish speaking/2^nd language learners!  This requires the teaching method to be more hands on/experiential learning with simple language!

 

The next presentation was by Donna Cutler-Landsman.  Basically, read her book and if you don’t have a copy for your therapists, teachers, etc you should! 

Educating Children with Velo-Cardio-Facial Syndrome

 

Strategies to Enhance Social Skills – the challenges 22q kids face and more tools and resources to address them.  Social Stories, written ‘rules’, video modeling, role play, etc.

 

 

 

 

Each conference presentation has detailed information on specific books, websites, curriculums, strategies and resources.  The M.I.N.D. Institute website will have them all posted in a couple of weeks.  http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/index.html#Meetings

I also have a extra copy of the binder we can make copies from and use. 

 

On this same web page you will find a couple links under ‘Video Resources for Families and Practitioners’ – check out the 2^nd video called The first 16 years with a child with 22q11.2DS - Heran Family Interview 

The mom, Carrie, on this video was the N. California family support group organizer at this conference and her daughter Kelley was also there! 

 

 

 

The last presentation was by a fashion photographer, Rick Guidotti, who runs a not-for-profit organization called POSITIVE EXPOSURE.  He takes pictures of kids living with genetic conditions by providing an alternative view than what medical textbooks will show (scary/ demoralizing).  He took pictures of the kids at the conference and posted them during his presentation –parents were in tears over the pictures of the kids.  www.positiveexposure.org