Teaching Strategies Guide for Educators

Spring marks the beginning of many annual IEP meetings including my own Katie's transition to Kindergarten!  This time of year can be stressful for many families, so to prepare, I've created an infographic you can print out and share with your IEP team to help identify research-based best practices and appropriate accommodations for kids with WS.  Feel free to download or save this and print as many as you'd like.  I hope it can help facilitate positive conversations about your child's needs... and remember, every child is an individual so some of these strategies will be effective and others will not.  You, as the parent, know your child the best so be an advocate and vocalize what you know works!  All the information on the infographic is compiled from the educator guides at www.williams-syndrome.org.  Best of luck!

Understanding Elastin

Elastin.  It's a term many families affected by WS recognize immediately, yet in regards to what it really is, many may not fully understand.  Elastin is a famous term used in the WS world because it is used to obtain a diagnosis using a FISH test.  So what is elastin and how does it cause some of the more famous symptoms of WS?  In this blog post- and on my webcast through the Williams Syndrome Association- we'll explore the ELN gene, how it is used by the body and its role in many WS symptoms.  This blog post will give you an overall idea of its role and links to posts on symptoms affected by the absence of ELN.  The webcast has more details and a Q&A at the end that you may be interested in.

So what is ELN?

ELN is one of the genes affected by the microdeletion on chromosome 7 that causes WS.   I often hear many refer to it as a chromosomal deletion which is not the case at all.  In fact, it's a gene deletion called a microdeletion because very few genes are missing- only about 25 on average.  Your body has 46 different chromosomes.  23 came from your mother and 23 came from your father.  Together, they make you a whole person.  Inside those chromosomes sit a series of genes that code for various proteins.  On chromosome 7, the one affected in WS, there sits between 1,000-1,300 genes.  If you had a chromosomal deletion, you'd be missing all 1,000+ because one entire chromosome would be missing.  WS, in contrast is missing roughly 25 genes that sit on one of the lower arms of the chromosome.  This is called a microdeletion.  It's just a small section of the gene sequence was left behind during a phase of meiosis when the body jumbles the genes to create diverse offspring.  (See the genetics page of this blog for more info on crossing over).

Out of those 25 genes, one of them is called ELN.  ELN is deleted in such a high majority of WS individuals, it creates a very reliable gene to "look for" in genetic testing.  Before we knew so much about ELN, we focused most of our research about WS on symptoms such as narrow arteries.  The presence of narrow arteries is the number one reason individuals with WS have life-threatening issues.  Because of this, it is considered a high priority area to study in the WS research world.  At the time, they took a backwards approach to genetics.  Researchers would study the disorder, identify how the tissues were arranged or functioned differently and then tried to pinpoint the protein that caused that change.  From there they would look for the gene that coded for that protein.  In SVAS, they determined that gene was ELN.   Now that we know the region where the genes are missing, we can use a much more efficient molecular genetics to identify proteins and explore WS.  The discovery of ELN not only helped better diagnose the disorder, it opened many doors in genetic research to better understand that portion of the genome.

Genetic testing used to diagnose WS is a relatively "new" method.  Prior to this diagnostic test WS facial characteristics and common symptoms had to be recognized by a medical doctor.  In the 1990's the FISH test (Fluorescence in situ hybridization) for ELN was created.  The use of this diagnostic tool increased the means to diagnose and better understand WS.  (learn more about FISH testing here).   As our knowledge of the genetic world increases, we learn more and more about ELN, increase information available to doctors and families by new diagnostic testing, such as in microarrays and increase the potential to lessen the effects of the missing genes using gene therapy.

How does the absence of ELN become a problem such as a heart defect?

Your chromosomes are made up of so many genes, each like a book in a library or a chapter in an instruction manual.  Each gene codes for a specific protein.  Proteins are the workers of your body.  Their functions span many areas such as building materials, enzymes that make important reactions happen, tunnels that transport materials across membranes, even tubes that transport materials around the cell.  Some of your genes are only active during specific events in your life such as embryonic development or puberty and others are active all the time- maintaining cell structures or aiding in reactions that help you digest food. 

ELN is the type of gene that is expressed or "read" during fetal development and during the first few years of life and then continually through adolescence until your body completes its growth.  After puberty, the ELN gene essentially sits dormant for the remainder of your life.  Because of its relatively long lifespan- lasting up to 70 years, the body's need for making new elastin decreases greatly as we age. 

When geneticists talk about a gene being expressed, they are referring to the process that occurs in the cell where the DNA is transcribed to RNA and RNA is used to create a protein.  During fetal development, the baby's body is building many new structures.  The organs in your body are made up of many different combinations of materials and tissues.  The gene sequences such as ELN are very active during this stage of life in order to build functional organs and structures.  It all starts inside the nucleus during transcription.  The section of chromosome 7 that contains ELN unwinds.  An enzyme named RNA polymerase unzips the section of DNA and matches the base pairs with RNA bases, essentially copying it.  When it reaches the end of the segment, the new RNA strand (called messenger RNA or mRNA) leaves the nucleus to deliver the sequence to the protein maker- the ribosome. 

When it reaches the ribosome, the mRNA feeds through this structure and is translated.  During translation, the ribosome matches codons- or groups of 3 base pairs to an anticodon on a transfer RNA.  The transfer RNA are aptly called this because they transfer the amino acid or protein building block to the ribosome.  This match allows the cell to build or connect each amino acid into a strand in the proper order needed to make the desired protein. 

When ELN is translated, it creates the protein called tropoelastin.  When translation finishes the assembly of the amino acid strand the endoplasmic reticulum or ER takes the protein and coaxes it into a properly folded formation.  Protein amino acids vary in their chemical composition.  Many of them have polar or charged portions that attract to oppositely charge areas on other amino acids.  This allows the protein to fold twist and connect to areas creating a unique shape.  This shape is very functional.  It gives the protein functional active sites that are designed to attract or repel molecules and "make things happen" within the cell. 

The shape of tropoelastin is that of three parts or regions.  The head of the molecule (labeled NC in the figure) is the portion that gives elastin its spring.  It can stretch up to 8 times its relaxed state and then spring right back to its original structure unharmed.  This becomes very important to its function in the tissues, which we'll get to in a bit.  The second region just under the head is called the bridge.  The bridge is an area that acts like a shock absorber.  It absorbs energy from the coiled portion in order to prevent its base from becoming dislodged.  The base functions to connect tropoelastin to an area of the tissue called the extracellular matrix.  It is essentially an anchor to hold the tropoelastin in place. 

So, is tropoelastin the same as elastin? 

No!  Tropoelastin is the main building block to a fiber called elastin.  Once tropoelastin is created and packaged into its unique shape by the ER, it then is used as a building material to make elastin.  Elastin is a fiber made of tropoelastin, microfibrils and is assembled by a group of five enzymes- called lysyl oxidases.  As tropoelastin is created, it is shipped an area outside of the cell membrane where they accumulate.  As they accumulate, one of the enzymes facilitates a chemical reaction on the tropoelastin to create cross-links or areas where they can soon connect.  Essentially, it's like nailing brackets onto the structural material so you can connect them into a sheet.   The cross-linked tropoelastin are then attached and woven to a series of microfibrils or tiny protein fibers that make up the extracellular matrix of connective tissue.  This is basically a net that creates the foundation of a tissue and contains fibers, cells and is surrounded by nutrient rich fluids.  The result is the fiber elastin.

So, in an individual with WS, this assembly line of elastin production has a decrease output because one set of the ELN is absent.  ELN is still transcribed and tropoelastin is still assembled but only in half the output as a typical person.  Think about a factory that assembles a product.  If you cut your workforce and materials by half, you'll only get half the product.  That is what occurs in WS.  They still make the tissues and build the organs but because less tropoelastin accumulates outside the cell, the resulting elastin fibers are smaller and less springy.

How does this cause symptoms of WS?

Elastin is a major component of many connective tissues.  There are several different types of connective tissue that have many different functions- the most important being support.  Most connective tissue acts to do just that- connect organs in the body.  They, for example, provide a net of support for epithelial (skin) layers in the body, they connect muscle to various organs to provide that organ movement.  They might connect vessels and fat to the organ to provide important nutrients.  They can store water, fat and salts needed for the organ's function.  They also provide support to maintain the organ's shape- a key function of elastin. 

Within all connective tissue are many different structures- there are the cells, often called fibroblasts which make the fibers, like tropoelastin.  There are fibers such as elastin and collagen that provide elastic properties or collagen which is strong and structural.  There are several proteins such as microfibrils that provide a framework or net and the extracellular matrix is often filled with fluids.  So, as you can see, the structure of an organ often requires elastin as a major structural component needed for the connective tissue to function properly. 

Elastin is essentially needed in any organ that requires some sort of stretch in order to work properly.  These organs include the heart and vessels, the skin, the lungs, and the joints.  As those organs stretch or widen, elastin stretches, (much like a rubber band but so much better!) and then springs back to an unaffected relaxed state.  This molecule is so good at this stretching job that most people's elastin can function properly for 70 plus years... pretty amazing material! 

Much of the symptoms related to elastin have been discussed elsewhere in this blog.  Below is some additional information about the disorders related to elastin and then you'll find a link to the blog page that gives more information. 

Elastin and Arteries

Until the early 1990's, little was known about the link between elastin and one of the most common vessel issues in WS- Supra-valvular aortic stenosis (SVAS) refers to the narrowing of the major vessel that leaves the heart- the aorta.  The narrowing occurs just above a valve or doorway that prevents the blood from falling backwards into the heart.  Typically in WS there can be overall narrowing in all the major arteries of the body- four of primary concern are the aorta, pulmonary arteries (going to the lungs), the coronaries (delivering blood directly to the heart tissue) and renal arteries (those that deliver blood to the kidneys). 

When the body builds an artery, it assembles the structure using four main tissues- inside, the endothelial layer is built of epithelial tissue.  This is like a skin-like lining that comes into contact with the blood.  Outside the inner layer is the media tunic.  This is composed of connective tissue and smooth muscle.  In a typical artery, the media layer is made up of very organized parallel bundles of smooth tissue and elastin.  This layer functions to control the size of the artery and regulate blood pressure.  In WS, the elastin, like discussed early, is much smaller in size due to the lack of tropoelastin present in the tissue.  Studies of the media tissue layer suggest that the pattern of elastin and smooth muscle becomes very disorganized and due to the lack of elastin, excess smooth muscle is layed down in an effort to compensate causing the vessel to loose it's stretchy quality and a much narrower formation is created. 

Diagram shows WS elastin on the left (notice the lack of tropoelastin) and a typical elastin on the right.

Considering that SVAS is the most life-threatening condition for those with WS, there is a large amount of research being conducted to better understand the mechanism or ways the vessel becomes narrow.  Unlike pulmonary stenosis, SVAS can worsen as a person ages.  As scientists isolate exactly how this occurs, there is hope that they can develop medications that might decrease the inflammation and decrease the degradation of elastin to control the worsening of the disorder.

Learn more about SVAS and it's affect on the body on the cardiovascular page of this blog.

ELN and its task force

While scientists have identified that the lack of one ELN gene is the cause of SVAS, they are suspect that ELN in combination with other genes that regulate its expression are involved in many other symptoms of WS including soft skin, premature aging, and facial features such as puffiness above the eyes.  Studies of ELN began with SVAS because it was so prevalent in individuals with WS.  As many parents are aware, WS has a spectrum of symptoms.  Even though 99% of individuals are missing one ELN then why doesn't everyone have the same symptoms at the same level of severity?  The answer is in the enzymes.  The expression of a gene takes an entire task force to copy the gene, create the protein, organize the protein, and build it into its final structure.  Even then when the fiber is damaged, there is a task force to either repair or replace it.  This is all orchestrated by proteins and that is probably where the spectrum effect lies.

Scientists have been busy at work trying to identify the genes and enzymes that have a hand in causing the more severe cases of WS.  As the amount of research improves and these genes and enzymes are identified, we may find better ways of predicting issues and treating them. 

For a great example of this, visit the section on scoliosis in this blog.

ELN and the skin

Elastin is an important component of the skin.  It's found in a layer called the dermis which sits under a thin protective layer called the epidermis.  The dermis has many different functions and is the working portion of the skin.  In the layer closest to the epidermis is called areolar tissue.  It's loosely woven with collagen (for strength), elastin (for stretch), cells called fibroblasts (for building more fibers), and a salty water environment.  You use this portion to store water and salts and create sweat.  It has many blood vessels, nerves and hair follicles that live here, too.  Under the areolar tissue is a layer called dense irregular.  This is densely packed with collagen and elastin fibers in bundles that twist and turn in many different directions. 

This is the portion that creates structure to your skin.  Imagine a pregnant belly.  As it grows and grows the skin must stretch and adapt.  Then after pregnancy it (ideally!) returns back to normal.  Now I can't speak from experience with this (ha ha) but if you can maintain the integrity of the elastin and collagen fibers, the tissue can remain in tact.  If you can't, there are enzymes that gobble up the damaged skin and quickly lay down a repaired section- leaving you with stretch marks (which is essentially scar tissue). 

Now, your probably thinking "how does this all have to do with WS?"  I use the pregnancy example because its easy to visualize the damage that can occur.  Damage also occurs with everyday life.  Aging is definitely something that everyone has to deal with.  Overtime, the lifespan of elastin can break down and lose its integrity.  As we become exposed to sun, smoke and other carcinogens the damage can accelerate.  Individuals with WS tend to have early onset of aging and it all has to do with damaged elastin.  As damaged elastin is discovered, the body disassembles it with an enzyme called elastase. You also have another enzyme called alpha 1 antitrypsin (AAT) that slows down or inhibits elastase.  It's basically a control so the enzyme doesn't go crazy and gobble up all the elastin in site.  Scientists have been studying AAT trying to identify its role in WS.  There is some evidence that some variations of AAT may contribute to more severe issues related to elastin.  There are still many questions unanswered but many clues to the complicated role to how genes and proteins influence one another.

So, in conclusion, everyone has a degree of elastin damage as we age.  In WS, where they are beginning with less elastin present in the dermis, the aging process will become more transparent over time. 

ELN and the vocal cords

Another area of the body that is affected by missing elastin is the vocal cords.  Almost universally those with WS have a hoarse voice.  The root of this lies in the flexibility of the vocal cords.  Vocal cords sit in the larynx or voice box of the wind pipe.  Men with prominent Adams apples make it easy to identify the location.  The Adams apple or larynx is composed of tough cartilage that creates a somewhat stiff box.  The cartilage is supported by many muscles and ligaments that attach to a bone called the hyoid. 

As we speak, we manipulate the pressure within the larynx which moves and vibrates a portion called the vocal folds.  The histology or layers within the vocal folds are mainly made of elastin. There is one jelly-like layer that is primarily elastic and another layer called the lamina propria that is thicker with elastin. This provides the flexibility of the folds to move with the pressure difference of the larynx during speech.  Another, leaf shaped flap called the epiglottis sits over the vocal folds. This flap is responsible for closing off the windpipe when you swallow food. It can also vibrate as well, contributing to the sound of your voice.  The vocal folds are primarily composed of elastin layers so in WS they do not vibrate and move as easily causing a hoarse tone of sound. 

ELN and the digestive system

The last place in the body that is most affected by the absence of elastin is the digestive system.  The abdomen is a relatively open area, not containing any bones to shelter the organs.  Because of this it relies on a combination of muscle and connective tissue for support.  There is a layer of integument or skin that creates the internal lining of the abdomen, called the peritoneum.  The peritoneum, like the skin, has a layer composed of elastin netting that allows it to stretch.  This lining is important in pulling in the abdomen and supporting the core. 

When elastin is weak here there, the internal organs, mainly the intestines, can bulge through the netting and get caught up in the abdominal wall.  This is called a hernia and can be pretty common in WS.  The problem with hernias is that they can be uncomfortable but they can also get infected if feces or bacteria get stuck in them.  This can cause inflammation.  Hernias are typically noticeable on the outside of the skin because a pocket or bulge will form under the skin.  Hernias need to be repaired surgically.

The most common type of hernia is the inguinal hernia.  This occurs during infancy and is most common in males but can still occur in females.  In males, as the reproductive system develops, there is a canal, called the inguinal canal, that the testes descend or move down through.  This canal then closes up, typically.  In inguinal hernias the intestines slip down through the canal as well and a hernia develops in the groin.  This can be attributed to missing elastin because the wall of the abdomen and the canal itself is looser than typical.

Another issue that can occur as people age is diverticulitis.  This is similar to hernias but instead of the intestine getting caught in weak spots of the abdominal wall, weak spots on the intestine, itself create loose pockets.  This too can get infected.  This disorder is usually found in the elderly population but because of the nature of the elastin in WS, it can happen much sooner.  There are records of people as young as 17 who have developed diverticulitis in the WS population. 

ELN in the joints

The final area of the body that is affected by elastin is the joints.  Most notably the intervertebral discs of the spine.  I have a lengthy post on posture that discusses this topic.  Go here for more info.

In sum...

As you can see, not all symptoms or complications of WS are attributed to ELN but its discovery was infinitely important in today's understanding of WS.  It opened doors in genetics to help diagnose and better understand the region where WS occurs.  It opened doors in cardiology to help understand and treat the #1 cause of fatal complications.  It's discovery has completely changed the care and open avenues for research in the WS world.

Sources:

• Sigmoid divertculitis in patients with Williams Van-Beurun syndrome
• Elastin gene point mutation in patients with inguinal hernia
• An investigation of voice quality in individuals with inherited elastin deficiencies
• Williams-Van Beuren Syndrome Genes and Mechanisms
• Medical Process:  Williams syndrome New England Journal of Medicine by Pober
• A Human Vascular disorder, supravalvular disorder, maps to chromosome 7 by Ewart et al.
• Genetic approaches to cardiovascular disease: supra-valvular aortic stenosis, Williams syndrome and Long-QT syndrome by Keating
• The extracellular matrix
• The science of elastin
• Genetics Home reference: US National reference of genetics
• Tropoelastin bridge region positions the cell-interactive C terminus and contributes to elastic fiber assembly by Yeo et. all
• Elastin Based Constructs; Lisa Nivison-Smith and Anthony Weiss

Webcast- Understanding Elastin

I'm excited to announce that I'll be hosting a webcast for the Williams syndrome Association on Tuesday February 18th and 7 p.m. central time.  Join me by clicking here and registering!  The webcast will be archived on the same webpage after it airs so if you miss it, you can hear it at anytime. 

Music, brain studies and its link to emotional learning

Ask any parent whose child has Williams syndrome and they will tell you they are musical.  My daughter has been drawn to music since infancy and shows high emotional ties to it.  Sad songs get tears.  Happy songs get squeals of joy.  She's like a musical sponge.  When Katy Perry's "Roar" hit the airwaves, Katie knew the lyrics after listening to it about 3 times.  She's four.  Since before she even started school, music has been a way for us to teach her things.  I've invented more songs than Paul McCartney.  In all seriousness, though, there is not an overabounding amount of research that explains the underlying connection to WS and music.  We know there is something there but science hasn't had the chance to explore it in depth, yet.

There are several brain studies that show that individuals with WS have more active brain patterns when music is used in learning than the typical person.  A recent study published in summer of 2013, looked into the link between this musical affiliation to the social and empathetic personalities of a person with WS.

Although the study used a relatively small sample size (a total of 55 individuals including a control group of typically developing adults) it resulted in significant data that suggests music therapy can positively affect individuals in learning environments and can help them cope with difficult social behaviors such as anxiety and heightened emotional response.  The study began with a goal to find a connection between verbal comprehension and use of music.  They also wanted to discover if those with WS had a greater emotional response to music than someone who is typically developing.

Previous studies suggest that the brain of a WS individual functions differently than most people.  Particularly, the amygdala's function is overly active during music.  There is also an activated visual cortex during music which is unusual.  This study suggests that there is a connection between music emotion and learning activities.

The amygdala is found inside of the brain towards the base and it is understood to correlate with emotion, emotional behavior and has strong links to learning.  It receives information from all major sensory organs especially those of sight, smell, and internal stimuli.  It is strongly linked with pathways to the hypothalamus which is the area of the brain that controls internal regulators.  The hypothalamus controls portions of the pituitary, the master endocrine gland that controls various hormones.  It also controls important vital functions such as heart rate, digestion, breathing rate and temperature regulation.  The pathway that connects the amygdala and hypothalamus are primarily involved in motivation and drive concerning emotional interest and response to rewards and consequences. (Wright, Neuroscience online).   This is a major motivator in this study.  If this area of the brain is more active during music there is a strong suggestion that there is a correlation between emotional response to music and learning.  The activity of this region is associated with empathy.  The ability to read other's faces and recognize their emotion is primarily controlled by this area, explaining a strong state of empathy in those with WS.

This study focused on three aspects of music:

• Interest in music- Specifically the amount of time spent in music related activities 
• Creation of music- The ability to remember songs.   This portion of the study also considers the level of complex music they participate in relation to instruments, rhythm and lyrics. 
• Emotional response to music- How frequently they express emotion during musical activities.  It particularly measures empathic and sensitivity responses to others emotions.  This portion also considered verbal comprehension when music is present. 

Findings of the study show that individuals with WS don't necessarily have a talent or ability to create music compared to the typical person but they have a stronger emotional response and chose music over other activities at a higher frequency.They develop an interest in music at an earlier age despite any additional influence of their parents or caregivers and spend more time throughout the day playing instruments or participating in music related activities.  They found a strong connection between music and emotional response.  They also found that those with WS will learn their language more successfully if emotional and social use of music is incorporated in the introduction of new vocabulary.  Important to note, there are also related studies that show music can increase mathematical comprehension as well.

This study and others related to social dysfunctions such as anxiety find that music can act as a learning strategy as well as a therapeutic activity.  It is shown to reduce anxiety and depression in individuals with WS.

On a personal note, my daughter is an active participant in music therapy and she shows remarkable gains in her IEP goals when music is involved in the activity.  Although she is only one child, her data suggests and increase in up to 30% comprehension of vocabulary than without music!  We are very thankful that our school district offers this therapy as a part of her education.

This blog post is a summary of the findings from the scholarly article:

Musicality Correlates With Sociability and Emotionality in Williams Syndrome.

Ng R, Lai P, Levitin DJ, Bellugi U.; Laboratory for Cognitive Neuroscience, Salk Institute for Biological Studies, La Jolla, California.J Ment Health Res Intellect Disabil. 2013;6(4):268-279.

 

Additional sources used to enhance understanding of this article from:

 

Chapter 6: Limbic System: Amygdala; Anthony Wright, Ph.D., Department of Neurobiology and Anatomy, The UT Medical School at Houston

Teaching math to children with WS

One of the most fascinating aspects of studying the WS brain is that they exhibit both strengths and weaknesses when it comes to brain function.  Very few disabilities have this combination of traits which makes WS a potential goldmine for learning how parts of the brain work together to complete tasks.  Scientists find the WS mind an amazing tool to unlocking some mysterious aspects of psychology.  The WS brain has amazing verbal and musical abilities paired with many educational difficulties in spatial learning and ability to focus.  These deficits can affect many aspects of the educational development of a child, including those in mathematics. 

The difficulties associated with math are complex in nature.  You will meet some students with WS who perform very poorly, others perform at grade level and still others only struggle with some areas such as time and money.  This unpredictability of math skills is something that psychologists find interesting.  It may lead to clues as to what areas of the brain are used for certain types of problem solving.  It may also open doors to understanding new teaching methods that could help many students who struggle with math- whether they have WS or not.  Due to the unique nature of the WS brain, much can be learned by our little ones.  Their unique abilities give psychologists clues to how humans learn. 

When compared to other intellectually challenged groups of students - such as those with Downs Syndrome, Turners syndrome and children diagnosed with math learning disabilities, those with WS have unique deficits.  The other groups tend to score low in all aspects of mathematics versus WS who have a mixture of high and low scores based on the skills required for each type of math skill assessed.

Brain science- why is math hard for my child?

There are two theories as to why those with WS struggle in math. One theory is that the grey matter in the parietal lobe of those with WS is known to exist in low amounts.  Grey matter is a collection of neurons (or nerve cells) that specialize in thinking and problem solving.  In general, the more grey matter in an area of the brain, the greater talent that person has to do those tasks.  The brain is covered in ridges called gyri.  Each gyri, built from grey matter, has its own job or function in one aspect of thinking.  For example, the precentral gyrus (also known as the motor cortex) is used to control when muscles contract in all parts of your body.  The post central gyrus (also known as the primary somatosensory cortex) is designed to identify touch and other sensory ques.  In between the gyri are narrow dips or grooves called sulci (sulcus).  These also contain grey matter and divide the functional regions of the cerebrum.  WS brain studies suggest that the intraparietal sulcus of the parietal lobe contains low amounts of grey matter.  This affects the intellectual ability of a person with WS to understand some parts of math, especially those that are related to spatial cues.  There is a well known link between the amount of grey matter and a person's IQ.  Lower IQ and intellectual disability which could explain a lower overall understanding of mathematics.

Another theory that explains math disability in those with WS is that their brain just works differently than most. In addition to low amounts of grey matter, there are impairments to the pathways that lead to the parietal lobe.  Some psychologists feel that difficulties related to math in kids with WS are more due to the flow of information within the brain rather than the amount of grey matter in the parietal lobe.  These pathways are made of white matter, which are made of neurons coated in fat.  The fat makes the messages move quickly from one area to another.  These pathways are used to link different gyri and sulci together to coordinate a more complex task.  There are some pathways that are used more often- like highways of the brain.  The dorsal stream pathway runs from the visual area of the brain up to the parietal area.  This stream is known to be impaired in WS and may be one reason why mathematics is difficult for kids with WS.  You can see in the picture, below, that the dorsal stream is used to figure out where things are in space.   

The other stream of information is called the ventral stream.  This flow of information is used to identify what things are in your environment.  This stream of information is actually used more in the WS brain and has links to short term memories and language.   Therefore the cognitive profile of someone with WS involves rich short term memories and language gifts yet they have a high amount of difficulty navigating spatially.  Based on these brain studies, there are theories that the spatial tasks involved in mathematics is weak yet verbal aspects of math are strong, giving them a lopsided ability to fully understand mathematics. Due to the quizzical nature of the WS mind there are several research studies that test these two theories. While no definitive answers exist, there are definite findings that the WS mind can learn math, though it must be addressed differently than a typical child would learn.

(Visit this post on my blog to learn more about the brain science associated with WS.)

Verbal vs. Spatial

When learning mathematics, there are two categories of problems- verbal math and spatial math.  Considering the dorsal stream being spatial and ventral stream being language based, anyone with some knowledge of WS could probably predict that kids with WS will score strong in verbal math and perform poorly on the spatial math.

Examples of verbal math are language centered- such as naming and identifying numbers and counting including counting by 5 and 10s.  These skills use the verbal stream of information and tend to be a relative strength for most kids with WS. 

Examples of spatial math would be recognizing relationships between numbers such as using number lines, greater-than versus less-than and estimating amounts.  For example, on one test students were given a triangle with two numbers (such as 5 and 9) at the base and one number (such as 6) at the point.  The student was asked to choose the base number that is closest in size to the 6.  Children with WS performed poorly on this task, most likely due to the spatial disability that is so strong in WS.  In addition, if children or adults are given numbers and were asked to estimate which of them are closest together on a mental number line, those with WS had a much harder time identifying the correct answer.  They also had increased difficulty the closer those base numbers become.  If the outlying numbers are very different, they can usually figure out the answer..  the smaller the numerical gap, the more difficult the task becomes.  This ability does not tend to improve with age.  Many children with WS struggle with these same spatial tasks as they age and will need to learn how to compensate them with verbal memorization. 

Developing math skills

Studies that focus on WS mathematical disabilities vary greatly in their results.  Overall testing tends to show that young children with WS tend to score comparably to those who are typically developing.  As they mature and mathematics becomes more conceptual rather than concrete, some students begin to fall behind.  Also, as a young child, math tends to focus more on verbal ability- counting, naming numbers and memorizing basic math facts.  Children tend to excel in these task that require the ventral nerve stream.  As they age, the spatial concepts are introduced such as greater than/less than, money and telling time.  This is when parents often find their child struggling to understand mathematics.

In some of the mathematics studies, adults with WS performed math facts as expected for a typical adult.  Psychologists who studied the active areas of the brain in those participants have found that those with WS use different parts of their brains to solve those math tasks in contrast to the average person, thus suggesting that they are "wired differently".  This suggests that mathematics can be learned by those with WS but different methods of learning should be explored.  The path to success is different for those with WS because they think differently than the other children in their classroom.

Another theory of why mathematics becomes more difficult for a person with WS is due to developmental aspects of mathematics.  As a young learner, children use their frontal lobe to learn and recall mathematics facts and processes.  The frontal lobe is used when you have to think about difficult and more complex thoughts.  As students practice these mathematics principles they become rote and easy.  The task then in stored in areas of the parietal lobe, particularly in the back portion of the brain along that dorsal stream.  Therefore, adults can complete simple math that once challenged them mentally but now are more like reflexes.  Because the area where those reflexes are stored is atypical in WS, some psychologists think that maybe adults with WS do not store those principles in their parietal lobe but always use their frontal lobes to figure out those types of problems.

Strategies to help teach math

Because memorization is a strong skill for those with WS, the approach to learning mathematics should be language centered. Also, if a child with WS never really understands spatial math such as cardinality, number lines, etc. they should just move on to other skills that are more attainable. The mathematics instruction should be modified because some kids will never grow to understand those concepts despite the practice. They need to learn how to solve mathematics in other ways that focus on their verbal strengths rather than using spatial skills.

The Williams Syndrome association also provides a list of strategies, compiled by Dr. Karen Levine, that can be used to modify a child's curriculum.  These suggestions are based on the spatial difficulties that most individuals with WS may never really develop even into adulthood- such as telling time with a analog clock and counting money.

Karen Levine, Ph.D. suggests the following modifications:

• "Digital clocks and watches
• Calculator use
• Teach time concepts by personalizing
• Use wall calendars for daily, weekly and monthly schedules with events sketched or written in
• Encourage the elementary school aged child to have a date book
• Be flexible in curriculum, avoiding a rigid 'prerequisite' curriculum design
• Some children may never learn coin values but should move on to the next curriculum phase which they may be able to more readily understand" (WSA)

There is also extensive evidence that the use of music therapy can help improve a child's ability to learn difficult, spatial concepts such as money, time telling, measurements and fractions. There is so much out there in regards to using music to help kids with WS, I decided it was too much for just one post... Look for future posts on the use of music therapy to help improve math success!

Sources:

• Mathematical skill in individuals with Williams Syndrome: Evidence from a standardized mathematics battery
• Mathematical skills in Williams syndrome: insight into the importance of underlying representations; O'Hearn K
• Williams Syndrome Information for Teachers  by: Karen Levine, Ph.D.
• Music therapy resources related to academics

Posture issues associated with WS

Anyone familiar with someone with williams syndrome knows that the majority of individuals have an unusual posture.  Their backs may sway and their bellies stick out in front.  They may also walk with a stagger or in an uncoordinated fashion.  Part of this has to do with spatial awareness and muscle coordination (see other blog posts on these topics).  As an individual ages, these muscle abnormalities can take a toll on their posture.  This is the main cause to some of the spinal issues that can develop in someone with WS.

Williams syndrome can be associated with various issues related to the spine- lordosis and kyphosis being the most common; scoliosis being the least.  Lordosis and kyphosis typically develop during adolescence and/or adulthood and are preventable.  Scoliosis may develop late in childhood.  Research on WS individuals with scoliosis indicates that it may be coupled with other inheritable mutations outside the WS area and are linked to familial inheritance.

Bends in the spine due to muscle tone

Lordosis is commonly called swayback.  It is when the spine has a pronounced curve in the lower back, called the lumbar region which can cause a belly that sticks out further than normal.  It is the most common postural issue in WS, found in 38% of individuals.



Kyphosis is also known as humpback.  This is when the spine typically curves outwards towards the back of a person.  This condition is most common in the upper back just below the shoulder blades and behind the chest.  It is found in 20% of individuals with WS.





The causes of kyphosis and lordosis in WS are rooted in two issues- the missing elastin (ELN) gene and the muscle tone of the lower extremities.  Elastin deletion is the underlying genetic mutation used to diagnose WS.  Elastin is a protein found in many connective tissues of the body that give the tissue both strength and flexibility.  It can work much like a spring, allowing the tissue to lengthen but bounce back and retain its original structure.  It is found in virtually every organ in the body and arranged in a way to improve the function of the structure.  For example, it is found in rings around the arteries, in strips down a ligament or in net like sheets within the skin. 



Most notably in kyphosis and lordosis, the lack of elastin can cause ligaments that support the vertebrae to loose their strength.  There are several sets of ligaments that cradle the vertebrae.  The anterior longitudinal ligaments run long ways down the body of the vertebrae.  This is the section of the vertebrae most central to the body, or towards the front.  The posterior longitudinal ligaments run beneath the spinal process or points of the spine on the back side of the vertebrae.  This is the area that you would touch if you ran your hand down your back.  Both of these sets of ligaments are arranged with a connective tissue called dense regular tissue.  This tissue has long sections of collagen and elastin that are packed tightly together and all run in the same direction.  This allows some give to the ligament but due to the direction of the fibers, gives strength in the direction of the primary force (supporting the weight of the body on the pelvis).  When there is less elastin, the ligaments become looser and strength is reduced.  This can cause the vertebrae to slip out of alignment and compress the intervertebral discs in an abnormal fashion.



The second issue with kyphosis and lordosis is muscle contractures or high tone in the lower extremities.  Contractures are tightening of muscles due to increased tone.  The contraction of the muscle pulls with extra force on tendons.  This in turn can pull on bones and create an uneven posture, affecting bone alignment and the development of kyphosis or lordosis.  It is important for individuals with WS to monitor their muscle tightness, especially in the legs and hips and to stretch them so that contractures do not get severe and cause further debilitating symptoms.  (See my blog post on muscles for more information on this.)  The prevalence of lordosis and kyphosis in WS is attributed to the muscle contractures that often occur in the lower body, particularly the hips, and lax joints due to the missing elastin in the ligaments of the spine.

The tightening of the muscles are much more common in adults with WS than in children and postural issues tend to be very mild. These conditions are preventable through physical therapy. Typically children with williams syndrome receive physical therapy at an early age but as they reach adolescence that service often ceases. It is suggested that adults with WS get physical therapy evaluations occasionally to determine if kyphosis or lordosis is occurring due to tight muscles in the lower body.  Stretching the tight muscles is the easiest and best preventive treatment you can take to avoid these issues.  If muscles become very tight, it is important to get further treatment from a physical therapist and to see orthopedics.  Some individuals will be fitted with orthodics that are designed to sustain a long stretch, sometimes overnight to treat the muscle.  Nurturing muscle health is the primary way to treat kyphosis and lordosis related to WS.

Scoliosis

Unlike kyphosis and lordosis being the prevalent postural issues in WS adults, some individuals are born with or develop scolisis at a young age.  Scoliosis is a curvature to the side.  These can often be in a C shape or S shape.  It is found in 12% of individuals with WS, which is considered a low incidence and typically presents itself by the 8th birthday. 



Scoliosis is known in the general population to be caused by a mutation on the fibrillin 1 (FBN1) gene, which is NOT in the WS region.  It is found on chromosome 15.  In all individuals with scoliosis in the general population, research indicates that this mutation accounts for 60% of cases.  FBN1 is known to affect the ability for the body to properly create strong elastin.  This is similar to the WS deletion which affects elastin's ability to bounce back under stress.  The difference between the two causes of scoliosis is that those with the FBN1 mutation are more likely to develop scoliosis than those with WS, showing that the FBN1 gene more negatively affects elastin's strength in terms of spinal development.      . 

In Williams syndrome, scoliosis can be linked to a specific gene mutation in conjuction with the classic deletion in the WS region.  The mutation is on a gene called SERPINA1.  SERPINA1 is a gene that is responsible for creating a protein called α-1-antitrypsin (AAT for short).  An AAT mutation is relatively common in the general population.  If a person inherits the mutation on both of their genes it can cause serious health issues such as emphysema and liver disorder, although, a double mutation is rare.  Carriers of one mutated gene can also have adverse health issues, such as scoliosis.  Since many people carry this mutation on the SERPINA1 gene, it is possible that some individuals with WS would also be carriers.  Researchers believe that this is the connection between a low incidence of scoliosis with WS. 

AAT is a protein that is an inhibitor of an enzyme.  Enzymes are proteins that help speed up reactions within the body.  Without them our body would not be able to survive.  The functioning of the body is basically a collection of complicated chemical reactions.  Most of these chemical reactions wouldn't take place fast enough for us to survive so we have proteins called enzymes that reduce the amount of energy needed for those reactions to take place.  We have thousands of enzymes in the body, each made to help speed up one particular reaction that we rely on for survival. 



The AAT protein affects an enyme called elastase.  Elastase is used by the body to reorganize elastin in the connective tissues.   When the body is laying down elastin in large amounts, usually during rapid growth at the end of pregnancy and throughout the first year of life, the body undergoes large amounts of physical stress.  This stress can create some inflammation within tissues, such as connective tissue.  The body's response to this is to repair the tissue by breaking down the damaged elastin fibers and replacing them with new.  The enzyme used to break down the elastin is elastase. 

With every enzyme it is important for the body to have a counteractive protein to control its reactions.  Enzymes are renewable meaning after they perform their desired reaction, they can disconnect from the substrate (or molecule they are breaking) and work on another.  In the case with elastase, it would break down a portion of elastin and then disconnect and work on another.  Therefore, the body makes a second protein, called an inhibitor, that slows down or stops the action of an enzyme within the body.  This is the body's way of preventing too much degradation of the elastin proteins.  When an individual has a mutation on the SERPINA1 gene, they fail to make enough of the AAT protein which is elastase's inhibitor.  This means that their body can not slow down elastase from destroying elastin, causing an absence of elastin in areas of the body such as the joints.



The destruction of elastin by AAT coupled with the inability to make elastin by the WS deletion is thought to be the main reason why some individuals (about 12%) with WS have scoliosis.  The lack of the elastin compromises the structure of the discs that are in between the vertebral bones that function to cushion the vertebrae.  An intervetebral disc is structured with a ball-shaped section of cartilage that is in the center, called the nucleus pulposis.  This area of the intervertebral disc is very dense with elastic fibers that are designed to compress and absorb stress from the weight of your body on the vertebrae.  In fact, over the course of a day the discs are said to actually be thinner than when you first wake up.  This is the nature of the elastin, absorbing the force and then springing back to it's original shape.  Circling around the nucleus pulposis are rings of connective tissue called the anulus.  The anulus has connective tissues thick with collagen (fibers designed for strength) that alternate with rings of elastic fibers for flexibility.  As you get closer to the center of the rings, the elastic fibers increase in number and are organized in a way where they sit against each other in different angles than its neighboring rings.  The structure of these layers reflect the function of the disc (giving it strength from pressure in various directions). 



Knowing the structure of intervertebral discs, it's not surprising to find that the lack of elastin can devastate the integrity of the structure.  When a child goes through stages of rapid growth, the intervertebral disc, the bone in the spine and the ligaments that support those structures undergo a drastic change in force placed on them by the body.  This can cause stress on the tissues and minor injuries.  The distressed tissue will release chemicals indicating that it is injured, activating elastase, the enzyme designed to destroy elastin.  If a individual has the AAT mutation, it is difficult for their body to reduce or stop this enzyme action resulting in lower levels of elastin in the body.  Coupled with the inability for the body to make adequate amounts of elastin (due to the WS ELN deletion), the intervetebral discs and ligaments can lose their strength and fall out of alignment, resulting in curvature of the spine- scoliosis.

The spine or vertebrae are normally positioned in a way that they sit directly over the pelvis.  Their primary function is to protect the spinal cord but they also contain a large base that absorbs much of the body's weight and allows us to stand erect and walk on two legs.  When the spine is displaced such as in these issues, it can cause back pain, putting additional stress on the muscles of the back, and awkward gait when walking since the body is not positioned properly in line with the pelvis.

Other rarer conditions related to the spine

Some WS individuals may develop kyphoscoliosis which is a combination of kyphosis in the upper back and scoliosis.  This condition is often due to having hypertonic (high tone in the legs and hips) coupled with hypotonia in the core of the body (low tone of the muscles).  In addition to the unbalanced tone in the muscles, the muscles have a lax nature due to elastin deficiencey in the tendons that attach them to the spine and in the ligaments that connect each vertebrae to one another.  Rarely if this occurs there can be a large curvature inwards that puts pressure on the heart and lungs and could create a need for surgery.  Incidences of this occurring are all recorded in children.

Treatments of scoliosis

Doctors and schools typically check for scoliosis between the ages of 8 to 10.  They will often look at the curvature of the spine by having the child bend and touch their toes.  If scoliosis is suspected, x rays will follow to determine if there is a degree of curvature.  Anything less than 25 degrees is typically not treated, just followed to be sure it doesn't progress.  If the curvature is 25-30 degrees, a back brace may be fitted.  Curves greater than 30 degrees will often lead to surgical repair where they fuse the vertebrae or insert metal rods to support it.  Surgery and treatment is always determined based on the patient, their needs and how much growth they still have in their future.

Sources used:

• Understanding Williams Syndrome: Behavioral Patterns and Interventions By Eleanor Messing Semel, Sue R. Rosner
• Neurogenetic Developmental Disorders: Variation Of Manifestation in Childhood By Michele M. M. Mazzocco, Ph.D., Judith L. Ross
• Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome; Colleen A. Morris, Ariel M. Pani, Carolyn B. Mervis, Cecilia M. Rios, Doris J. Kistler, and Ronald G. Gregg.
• http://www.emedicinehealth.com/scoliosis/article_em.htm
   

Williams syndrome behavior profile- ADHD

Many people are familiar with the symptoms of attention deficit/hyperactivity disorder.  You envision a child who can't sit still nor concentrate on anything for very long.  In the Williams syndrome community, it is not unlikely to find many of the individuals diagnosed with ADHD.  Many individuals with WS have a very hard time paying attention to a task for a prolonged period of time.  In my own experience we noticed inattentive issues from a very early age of one.  Katie has trouble paying attention to a task during therapy for longer than only a few minutes, especially if it's a task that she doesn't enjoy.  We have since used strategies to help her remain focused, such as centering activities around highly motivating topics, using music, sometimes eliminating objects that are too interesting to the point she won't do anything else and reducing environmental distractions.  Considering she is only three, I foresee us needing to explore the ADHD topic in her future, but for now we use these strategies.  Many families find that help from a psychologist is necessary for their child to be successful at home and school.  This blog post is dedicated to them.

ADHD is tricky to treat...

In today's age, ADHD is so mainstream the acronym has become a term used in every day language.  Its diagnosis in children has increased so much over the past 10-20 years that many believe students today are over diagnosed.  With over diagnosis, many feel that kids are also over medicated. In the clinical world, however, psychologists see patients improving with the treatments and argue that ADHD is diagnosed more today than in the past because we are becoming more educated about the symptoms.  Parents and educators can identify kids who need help better now than in the past.  Psychologists don't see patients as unmotivated, lazy or free spirits.  They see them as a person with a brain that functions differently and one that can be treated when they work closely with a physician.  The increase in awareness has lead to more people receiving diagnoses and getting the treatment that they need to become more focused and successful.

ADHD is becoming more and more understood over time and as new research has answered baffling questions, the medical and psychological treatments offered have improved.  Despite the improvements, ADHD is a very frustrating condition for parents, doctors and educators to address because the basis of the condition is centered around brain chemistry which can be very complicated.  The variety of medications and the differences between how people's brains react to them can make treatment a long endeavor.  You often have to start with what works for most and modify it with different combinations of medications and/or change medication schedules. 

Another reason ADHD is so hard to treat is because it is often found paired with another disorder.   Those with ADHD also tend to display other psychiatric disorders such as anxiety, learning or behavioral disorders or mood disorders.  This rings true in WS, especially with anxiety, making the combinations of treatments very tricky to find the right balance.  When treating ADHD, the treatment has to mesh with all the psychiatric disorders and often symptoms of one will mask symptoms of another, complicating treatment.  This is why a child will often be put on one type of medication and will have to be carefully monitored to insure there aren't any adverse symptoms.

Research has also furthered our understanding of the variety of symptoms of ADHD.  It was once thought that ADHD was more prevalent in boys than in girls and the symptoms of hyperactivity.  Today we know that there are various forms of ADHD that affect both genders.  Research also indicates that 50% of children with ADHD don't actually grow out of it, the symptoms just change and the person often adapts.  The condition, though, will still affect them throughout life.  They have found that kids who are hyperactive and impulsive will shift as they age from the hyperactive classification towards a more inattentive classification.  Their outward behavior may change indicating that they have "grown out of ADHD" but in reality the inattentive state is easier to mask or is often misunderstood.  It is seen as a chosen behavior rather than a psychological disability.

Diagnosing ADHD

The classification system for ADHD has frequently changed in the past.  Today psychiatrists diagnose patients as Attention deficit-hyperactivity disorder followed by three types- inattentive type, hyperactive-impulsive type or a combination type. 

All of us have experienced periods of inattentiveness or hyperactivity throughout times in our lives. The difference between an energetic kid and one with ADHD is that they have to have 6 out of the 9 behaviors outlined as ADHD and it must interfere with their normal functioning at TWO aspects of life: at school, work, social settings and/or at home for a period of 6 months or more. Here is a list of the behaviors associated with this condition (from the National Resource center of ADIHD):

"Criteria for the three primary subtypes are: ADHD - Predominantly Inattentive Type

• Fails to give close attention to details or makes careless mistakes.
• Has difficulty sustaining attention.
• Does not appear to listen.
• Struggles to follow through on instructions.
• Has difficulty with organization.
• Avoids or dislikes tasks requiring sustained mental effort.
• Loses things.
• Is easily distracted.
• Is forgetful in daily activities.

ADHD - Predominantly Hyperactive/Impulsive Type

• Fidgets with hands or feet or squirms in chair.
• Has difficulty remaining seated.
• Runs about or climbs excessively.
• Difficulty engaging in activities quietly.
• Acts as if driven by a motor.
• Talks excessively.
• Blurts out answers before questions have been completed.
• Difficulty waiting or taking turns.
• Interrupts or intrudes upon others.

ADHD - Combined Type

• Individual meets both sets of inattention and hyperactive/impulsive criteria."

The science behind ADHD

There is still a lot to learn about the cause of ADHD. Scientists know that it has to do with the brain chemistry and neural connections. There is some evidence that certain environmental factors contribute to this condition but the current belief is that it is genetic and a child's environment can contribute to the severity of the symptoms (such as aggravating the condition due to food allergies or environmental toxins)

ADHD has been identified as a disorder of the brain's ability to coordinate its executive functions. In an average person, the brain has neural pathways that coordinate your working memory, your ability to organize a task and your use of internal language where you think through and "talk to yourself" in order to make sense and coordinate a task. All of these tasks are difficult for someone with ADHD because those neural pathways do not work as efficiently as they should.

Brown et al. explains this impairment of executive function as being synonymous to a type of leadership role. Think of a conductor of an orchestra who has to coordinate several types of musicians to play at the right time and tempo in order to produce beautiful harmony. Your brain works in much of the same way. You are receiving information from your environment and you need to choose what to act on, pull from memory on how to act on it, coordinate muscles and glands to produce the right combinations of actions, etc. It takes quite a bit of organization for your brain to maintain this task. This executive function of coordinating all the thoughts, memories, actions and interpreting the information your getting is coordinated by the executive function of the brain. The very place where ADHD has deficits.

Furthermore, as a person ages, they are called upon to use this executive function more and more. As a youngster, kids are hyper, they don't have big responsibilities and as they age they will be challenged more and more to use that executive function. This is why the inattentiveness becomes more apparent as a child ages. Often if a child doesn't have the hyperactive part of ADHD, they aren't even diagnosed as having inattentiveness until they reach middle-high school where they are called upon to take on more responsibility.

In addition to executive functions, those with ADHD have deficits in their working memory. Your working memory is a portion of your brain that takes information from the long term storage of memory and puts it into action. Basically its like opening a file cabinet of things you know and reading a folder you need to use at the moment. It is linked to acting on what you know, making connections between what you are learning to what you have learned and it is essential for understanding and initiating tasks. Deficits in this area will lead to students who don't finish tasks or have trouble starting them. 

There are emotional ties to those with ADHD as well. They often become hyper focused on something interesting and although they know they should be engaged in another activity and that if they don't it will cause them "trouble" down the road, they physically cannot find attention for the less interesting stimulus. This type of ADHD is often coupled with other psychological disorders such as mood disorders.

Research is unclear on the actual brain science that causes ADHD. Much of the early research has pointed to the neural pathways in the pre-frontal cortex (the portion of your brain behind your forehead). This area of the brain is what creates your personality, your ability to problem solve and think through academics. It essentially is the part of the brain that makes you, well, you. Later research indicates that, yes, this area of the brain is affected, but so are neural pathways or highways between memory in the thalamus, deep in the center of the brain and the parietal lobe where sensory information is processed in the top back of your brain. All these areas must coordinate efforts to produce a behavior and this is the essential workings of that executive function of the brain.

There is also evidence that brain chemistry has a lot to do with ADHD, particularly, dopamine. Dopamine is a neurotransmitter, a tiny chemical that is made by cells in the brain that allow one neuron to communicate with another. It is thought that ADHD has a deficit of dopamine and
catecholamines. There is a lot left to understand about this chemistry but it is widely known that medication that focuses on the increase of dopamine is effective in preventing inattentiveness in those with ADHD.


Treating ADHD in someone with WS is extra tricky...

More than 50% of individuals with Williams syndrome are diagnosed with ADD or ADHD. In studies, children with WS were compared to those with ADHD with comparable verbal abilities versus a control group of typical children. The children with WS were most like those diagnosed with ADHD and scored abnormally on the Conners ADHD rating scale. One Williams syndrome study showed that 43% of their study participants had ADHD and most of them were due to inattentiveness, not hyperactivity nor impulsiveness. 

There are only a handful of researchers who have studied ADHD and WS together.  This means that your WS child will most likely baffle a psychologist.  As mentioned before, ADHD as a whole is difficult to treat in anyone because most with ADHD have another condition in conjunction with it.  Most individuals with WS will have learning difficulties, anxiety, ADHD and their unique hyper-social personalities that will make identifying a treatment very difficult for most.

Most kids with WS don't meet every criteria of inattentiveness.  For example, a child with WS that is highly interested in something, such as a tv show, learning about their favorite item or are participating in highly motivating activities, such as music, will stay on task whereas the classic ADHD child will not be able to sit still regardless of the activity.  Also, kids with WS tend to become distracted by specific environmental triggers, such as noise, music, peer conversations, shiny objects and unexpected or novel items introduced to their environment.  Kids with WS tend to have selective attentiveness.  They have trouble maintaining their focus with external distractions that are interesting to them and as a result retain partial information.  Typically kids with ADHD will be inattentive for longer periods of time.  Other differences stem from the WS profile.  While kids with ADHD are often found to have trouble reading people socially, are less able to become empathetic with others.  WS is the exact opposite of this. 

In addition to a slightly different inattentive profile, individuals with WS display different behaviors than other children with ADHD inattentive type.  There are some researchers that argue against labeling WS with ADHD because kids with WS lack aggression that is oppositional to adults.  Kids with WS that act out are often due to anxiety or frustration due to their verbal ability rather than due to hyperactivity. This is just another example of how ADHD is not black and white as far as treatment goes. The combination of inattentiveness, anxiety and the WS behavior profile make diagnosing and treating ADHD very difficult for psychologists.

ADHD treatment for those with WS

There are only 3 studies as of date that studied the effectiveness of medications for ADHD in children with WS, making the treatment difficult for doctors and the families.  The studies also have small sample sizes so further studies are really needed before anyone should suggest one treatment over another.  Treating ADHD has always been very difficult and often require various trials from psychologists.  One study focused on the effectiveness to treat individuals with WS using methylphenidate (MPH), the medication found in Ritalin.  In the study, of 30 children treated, 60% of them improved (3 highly improved and another showed moderate improvement).  This improvement rate is the same as the effectiveness in the general population of ADHD children.  The main side effect was sadness, quiet, and withdrawn behaviors which was shown in 61% of the children taking MPH, so any children showing signs of depression should not be given this medication.  This side effect is much higher in those with WS than in individuals with ADHD alone (8%-22%).

To conclude:

So, in conclusion, there is a lot to learn about WS and the treatment of inattentiveness.  It is important for doctors and educators to work with the children.  Treatment will take time and will require parents to communicate effectively with psychologists so that the proper medications and timing is discovered for your child.  It is also important that schools include modifications and strategies for classroom teachers to use that will help your child maintain better focus in school.  Patience and open communication are essential for treating children with WS and ADHD.

Sources:

• http://www.ncbi.nlm.nih.gov/pubmed/20700845 Abstract of a study that shows the prevalence of ADHD in individuals with WS.
• http://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1003&context=jeffjpsychiatry small psychiatric study that attempted to show that ADHD and anxiety in WS is due to the genetic deletion rather than family inheritance.
• http://books.google.com/books?id=9E9q5112WBgC&pg=PA286&lpg=PA286&dq=adhd+williams+syndrome&source=bl&ots=LdcJeiR7v0&sig=1iiN2afkh91X4siWCceAmkkXO-4&hl=en&sa=X&ei=0M_AT8-mDrKBsgLU9PTzCQ&ved=0CH0Q6AEwBA#v=onepage&q=adhd%20williams%20syndrome&f=false "Understanding williams syndrome behavioral patterns and interventions"
• http://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.31247/full Study about the use of MPH treatments in individuals with WS.
• http://www.ncbi.nlm.nih.gov/pubmed/9203066 Second study about MPH and WS
• http://www.drthomasebrown.com/pdfs/comChapter.pdf A book that summarizes studies on ADHD and explains what trends in research say about the condition.