Discover the full list and cds of the most fun, popular and old fashioned sing along songs and lyrics for seniors from the 1950's to 1970's. Enjoy!

When my daughter was first diagnosed, one of the characteristics of Williams syndrome (WS) that I found most facinating was their language and communication skills. Individuals with WS are known to be vocal- gifted with gab; often described as having the "cocktail party" personality. They have rich vocabularies and can talk your ear off so to speak about anything and everything. I had the pleasure of experiencing this gift when I attended the St. Louis WSA convention in summer of 2010. Kate was mearly one and we had never meet an adult with WS, as of yet. When we entered that hotel and was greated by the WSA gang (a group of WS adolescents and young adults), I was in for a treat. They congregated in the lobby and escorted guests up and down the elevators (which made it tricky to catch an open place to stand in one but it was comical all the same). Eventhough we were strangers, several individuals shook our hands as we entered the door, within minutes we had made friends. It was quite an amazing experience. My husband and I laughed on the last night of the convention when we learned that some poor soul was having a wedding in the same building. I expected they had quite the party along with some very happy crashers! As a parent of a newborn, the diagnosis can be very overwhelming. It's devestating in the beginning and only natural to latch on to any and all hope that comes your way. One of those hopeful peices is the language factor. You hear or read that your child will have a mental disability, low IQ, may never live on their own and at times it's almost too much to take. But then you read about their beautiful language and you get a little seed of hope. In early childhood that little seed takes longer than you expect to sprout. If you talk to any WS parent, most will admit that one of their first concerns was- when will that bubbly language appear?... preschool comes and your child is still doing baby talk. It can make a parent a little on edge. Good thing is that speech delay is typical for a child with WS. Delayed speech occurs across the board and there are mountains of research out there explaining why. In this section of the blog, I reached out of my comfort zone of basic anatomy and tackled the world of speech and language. It's not my strong point, so you'll have to bear with me. I write this section in homage to my daughter's lovely speech therapist who inspired me to learn more about the development of speech. Early speech delay Although many parents anticipate that first ma-ma or da-da around 6-10 months, parents of children with WS collectively have to wait much longer. Studies of young children with WS show that they all demonstrate a delay in speech. Researchers have linked this to a delay in two skills: delay in the ability to produce a rhythmic pattern, a motor skill called rhythmic development and the ability to pick specific words out of a string of speech. Motor skills come first In all children, language development typically follows development of major motor skills. Most children start to acquire a rich vocabulary and pick up more words after mastering crawling or walking. This is the pattern for normal development. In a young child, the brain has to train its neurons, or nerve cells, to communicate with muscles in order to get the desired effect- walking without falling, picking up food and putting it in the mouth and moving the tongue and lips to produce a sound. It's all something the brain has to learn to coordinate. It's no surprise then that if motor skills are delayed and/or a child has problems with low tone in their muscles (see the muscle section of this blog), they are going to have trouble producing language. This picture shows a reflex arc. It's the nervous system pathway used to control the muscle. In simplified terms- Information comes from a sensory receptor (such as hearing speech) and it travels to the brain or spinal cord where it is interpreted. The central nervous system then sends information to the muscle to create speech. In order to speak there are many muscles in the mouth that the brain must learn to control. In order to accomplish the task of language, the body must first figure out: How the nervous system will communcate properly with the muscles to create a muscle tone that allows it to produce the desired motion. Remember from the muscle section of this blog, tone is related to a constant state of contraction that a muscle is in that allows it to monitor the space that the body occupies and adjust contraction based on need for balance, coordination and general awareness of which way is up. The muscle itself must also have the proper strength so it doesn't get tired. This can also include the range of motion needed to produce a sound, the speed of the tongue or lips to develop a word or phrase, coordination of several muscles in the oral cavity and something called dissociation or the ability to move all the muscles independent of one another. Not a small task for a baby. On top of all this language is a complicated process of receiving sensory information- seeing your environment, hearing your parents say something and having to process that information, figure out what it means and how you want to respond and then eliciting the proper movements to speak coherently. All of this takes time to develop and for a child with WS it all starts in learning to move and coordinate the muscles. Muscles of the head and neck used for speech and swallowing. Several speech studies looked at the child's development of motor skills and tried to find a relationship between an acquired motor skill and the onset of language. The first language skill that most parents and researchers note is the ability to babble. In the speech and language world this is called canonical babbling. Canonical babbling is the repeatition of sounds such as ma ma, da da, ga ga, etc. It is considered a major speech milestone which usually occurs in typical children around 6-10 months of age but much later in those with WS. What the study found was that children with WS had to develop a gross motor skill related to rhythm before they began to babble. When they began to rhythmically nod their head (called head banging) or circle their arms (called occilated movements) their language development quickly followed. Once this skill was acquired (on average around 16 months old in children with WS) canonical babbling followed on average about 2 weeks later. Followed by canonical babbling, babies with WS will usually say their first word around 20-21 months old. In all children in this study, the first word came 18 weeks following the canonical babbling (versus a typically developing child whose canonical babbling begins at 6-10 months and first word typically said 2-3 months later). The conclusion of this study stated that the delay of speech in williams syndrome is actually linked to a delay in motor development since babbling requires motor skills. Therefore, the delay of rhythmic hand banging results in the delay of the babbling which in turn delays their first words. The complexity of babbling in WS has shown to be more variable than typically developing children and it also shows to be less complex. Young children with WS tend to babble by repeating one consonant versus using a variety of sounds like a typically developing child would. Studies also show that the more typical the babbling is for the children (meaning those WS children who make more complex sounds when they babble) tend to have better language skills when they age. Babbling is therefore a good indicator of language skills down the road. It also has to do with interpretation... Another delay in early speech in WS is the ability to pick words out of a conversation. When you converse with a child, they have to form meaning around all the words. Parents can easily see when a child understands sentences as they learn to follow directions- such as "Get the ball". As children develop their understanding of language, they typically learn words that start with a strong syllables and end with a weak one (such as ball) first. These words stand out in a sentence better than words that that have weak to strong syllables in the words (such as balloon). In williams syndrome, it is shown that they can pick up the strong to weak words when spoken to in sentences, but couldn't duplicate or pick out words with the weak to strong syllables. Additionally, if a weak to strong word is offered to them individually (not within a sentence) they can duplicate them. The research team found that many of the children with WS had a language delay in this area not because they couldn't learn these types of words but because of the method the words were presented to them (in a conversation rather than isolated). Therefore it's important when teaching your child vocabulary, that they learn what objects are in isolation of a conversation about them. Instead of telling the child "That is a balloon. The balloon floats." You should instead touch the object and simply say "balloon". This removes the "noise" from the label and the child will better understand. How a young child with WS learns In language, speechologists studied when the average child with WS was able to speak 100 words; which is a skill typical children develop around 18 months of age. This came at about 40 months on average for children with WS (ranging from 24 to 68 months), which is in the bottom 5% when compared to children overall. In the same study, the children were followed to see the rate of vocabulary development. The researchers found that some of the children's language development occured in spurts of new skills followed by times where little to no growth was noticed, similar to what a typical child would do when developing a new skill. These children tended to have more advanced language at 4 years old than those children in the study who slowly developed by progressively gaining skills with no lags in learning. The study didn't indicate which of these groups were "typical for WS". It just indicated that both types of growth were observed and resulted in different levels of vocabulary as they aged. Studies of how young children with WS learn expressive language showed that it is highly linked to play based learning. If a child is shown something and told its name, they do not aquire the language as well as if they learn it through play, for example rolling a ball and learning it's a ball during the kinesthetic activity. In otherwords, they learn by doing. Other skills that were studied were the ability to sort objects into categories and the ability to call objects by name, called fast mapping. These two skills are linked cognitively and in WS, as in typical children, these skills are developed in sync (within less than 2 weeks of each other). "Hey Mom, what's that?"- Pointing Gestures are considered an early communication skill that often help children acquire a richer vocabulary. Typically children acquire the ability to point to an object by the age of one. Pointing is a child's way of learning labels. They point at something that is interesting to them and the parent follows the gesture and responds with a label. Children with WS, interestingly enough, don't develop the pointing skill until after language has began to develop. This is atypical in the developmental order for most children including those with Downs syndrome, autism, etc. The inability to point can further delay the development of their language. They also the have the inability to follow a point. Studies show that children with WS do much fewer gestures overall, than typical children and fewer than kids with Downs syndrome. Although, children with WS generally will test as having a larger vocabulary than children with Downs syndrome. At preschool age, many children with WS will have acquired a large expressive language but lack skills in referential language. They'll have difficulty learning because they haven't developed the pointing skill. This skill cognitively shows that the child can pay attention to an object at the same time as they pay attention to the adult naming and communicating with them (i.e. listen to the teacher read a book while following their finger when they point to the objects or words in a story). When comparing non-verbal language of those with WS to typical children, children with WS have a strong non-verbal ability to express need and want but not to request names of objects for further learning or use pointing gestures. The ability for a WS child to refer to an object to show want or need by pointing is significantly delayed in WS by 6 months up to a year. Children with WS will learn to request an object first but won't learn to point to it until much later. Few children in the study developed pointing before they were able to label objects using words. This skill is a milestone that many parents of those with WS celebrate because it is so noticably delayed. Researchers link some language delay to the delay in pointing because WS children will not point to objects they are interested in as a request to learn its name. This can further delay the acquision of new language. There are three methods parents can use to compensate for this. First, the parent should follow the gaze of the child if they are focused on an object and then name it for them. The parent can move an object in the direction of the gaze and then label it or the parent can tap on a object they are trying to label to gain their attention and then label it. It is important for parents to share the names of many objects since their child will not be able to communicate their curiosity of what objects are called. Children with WS are often compared to those on the autism spectrum because of the absence of this skill, pointing. They can also have difficulty following a point when a person is trying to communicate something from across a room (another similar autism trait). At times they also demonstrate the inability to use eye contact in proper situations such as when a teacher is requesting attention in a classroom discussion or during conversation. They are delayed in skills such as giving and showing. Although the lack of these skills are found in children with autism, those with WS should not be labelled as autistic unless they display other autistic tendencies in addition to these (which can happen). These delays in communicative skills is considered a normal quality of WS, not a secondary diagnosis of autism. Social Gaze Another characteristic of children with WS is their fixation on faces. Studies have shown that a child with WS will place more attention on the face of the person working or playing with them, such as their teacher than the task at hand. This can make language acquision harder for them because they don't use joint fixation on the object that is being discussed. The fixation on the face can be even worse when it's a stranger. For example, if a teacher is working with a child with WS and trying to show them a ball, the child may fixate more on the teacher than the ball and miss the label. School age Although gestures are delayed in early childhood, when children with WS were reevaluated at a school age and compared to children with Downs syndrome and to typically developing children of the same age, gesture development becomes evident. In the early years, gestures are almost non-existant. When young children were compared to DS, they were found to have less gestures but more vocabulary words. But later in elementary ages, the gestures become a strength. Older children with WS are very expressive in both their vocabulary and gestures. This suggests that children with WS develop speech first and then develop gestures unlike what would be expected in the general population. When children begin to vocalize concepts such as counting forward and backwards and putting together longer phrases and sentences, scientists have found that a child with WS tends to learn these skills in a different way than a typically developing child. Normally a child would learn a new word and relate it's context to something they already know. The brain is designed to work this way, building connections between something new with something old. This process is called association. This is why it's easier to learn something in depth when you are familiar with the background than if it's totally new and you can't relate. In WS, researchers have found that language development appears to take a somewhat different route. In WS, kids don't make as many associations, instead they rely more on their working verbal memory. They memorize the new information by hearing it (they are auditory learners). Theories as to why this happens stem from the development of the brain. Many think that in a child with WS, the language pathways are not only delayed but they develop in a different manner than a typical child's would. Therefore, they are going to approach learning in a different way as well. In fact, many studies that have tested working memory strength has found that adolescents with WS have a better verbal memory than thier typical peers. Meaning, if a person with WS listens to a sentence or paragraph they can repeat back the words more accurately than their typical peers can. Measuring IQ Belugi studied WS in the 1980's and made an observation that although those with WS couldn't show their knowledge on paper; for example through a drawing that depicts an object; they could describe it in detail using a complex vocabulary and dialogue. Her study showed that there is a definite disconnect between language abilities and intellectual cognitive ablities. Many other studies followed this one as it peeked interest in those outside of the WS research world. Research followed testing that the ability to speak fluently is independent of the ability to think intelligably. The research and data taken over the next 10 years was poor at most; having only small sample sizes and testing children who did not demonstrate classic WS deletions. Most described the children used in the sample study as having almost immeasurable IQ which we know today that this is an inaccurate portrayl of WS considering most have IQ that is midly below average. In 2007, Dr. Mervis and Dr. Morris, in a joint study researched individuals with WS using a larger sample size than ever before and included only those with classic deletions who showed no signs of autistic tendencies. Dr. Mervis and Dr. Morris used a test called the Kaufman Brief intelligence test (KBIT) and determined that intelligence in WS lies on a spectrum. Just as the general population has a variety of IQ's; so does the population of those with Williams syndrome. The mean or middle IQ in their study was 69 which is considered at the high end of the mild mental disability range. However, there were people who scored in the 40's which is considered moderate intellectually disabled and those who scored around 112 which is considered average. More remarkable, when this study was matched up with the IQ ranges seen in the general population; the intelligence quotients are distributed in the same pattern just two standard deviations lower than for the general public (more in the middle; less on the outer scores) showing that in WS overall, the cognitive ability is what you'd expect to see in a typical person, just approximately 30 IQ points lower on the scale. When your child's intelligence is evaluated by a school district it is important to ask them to use the KBIT test as mentioned above instead of the Differential ability scales test GBA. The later test looks at visual spatial abilities which are widely known to be a disability for those with WS. Therefore, using this test to evaluate IQ will inevidably show lower IQ levels than the KBIT test and it skews results. Adolescence In cognitive studies for adolescents, researchers test IQ and cognitive ability using a variety of measures. One of which is the person's ability to name objects that belong to a common category, such as "animal". In those with WS, they found that they will name more unique organisms when compared to typical adolescents. This skill first becomes evident between the ages of 11 to 19 and as the person ages within this range, the variety and uniqueness of the organisms they name only grows in magnitude. After the age of 19, this levels off. When compared to typical children of equal mental ability, those with WS scored equivalent to their peers in this area of semantics and in some categories scored equal with teens who had more advance mental abilities. The most notable difficulty adolescents with WS have is their ability to describe an object in its space. When compared to teens with similar mental abilities, individuals with WS had a much harder time describing how an object is built or organized in relation to all of its parts. Theories are that those with WS have a disability in spatial language. Other researchers believe that they have trouble comprehending sequence in a sentence. This skill, called spatial memory, is demonstrated in a study where they showed adolescents with WS videos of motion, such as a box falling off a wall. Adolescents with WS could describe the action such as the box fell off, but couldn't describe where the box fell from (the wall). This shows that when they have to remember a series of events (two different places) their memory fails them. Grammar Traditionally, researchers have thought that individuals with WS tend to understand and use grammar better than would be expected. Much of this research is based on studies that compare individuals with WS to those with Downs syndrome. They show that those with WS consistently outperform their peers with Downs syndrome and often only score slightly below those individuals considered typical. Subsequent studies, however highlight that individuals with Downs syndrome tend to have a specific disability with grammatical speech and that the study was erroneous to compare those two groups. How can you have a disability and a gift in the same area? In brain studies, students with WS who have normal IQ's still show difficulites in spatial language in addition to quantitative language (like long vs short; over vs under, etc). The brain studies indicate that spatial language disabilities can be due to a structural abnormality in the intraparietal sulcus of the brain. The interparietal sulcus is a shallow dip that is formed by grey matter- the neural cells of the parietal lobe that are used to process or figure out sensory information . Scientists have identified that this area is used by people to understand numbers, particullary number order and comparing small numerical size to large. It is also used for some visual processing and eye movements used to judge visual- spatial information, maintaining visual attention span and interpreting social intent of others during a conversation, all obvious difficulties for individuals with WS. The intraparietal sulcus is highlighted in red in this drawing. The brain studies have also shown that this structural abnormality of the intraparietal sulcus obstructs a nervous pathway to the later dorsal stream region. The dorsal stream region is a section of the brain in which a flow of sensory, particulary visual information sweeps down neural pathways and develops an overall awareness of spatial identity. It is found in the lower portion of the parietial lobe (which overall's function is to process and interpret sensory information) and sweeps across the occipital lobe (which interprets visual information) and across into the temporal lobe (which functions in many areas including memory). These brain scans show overall volume of the brain. The WS brain is considered smaller by volume, by 15%, but some areas (indicated in light blue) are larger by comparison. So, why do those with WS have relative strengths in language as well? By contrast, brain studies show that indivuals with WS have some regions of the brain, including the frontal lobes, the amygdala, and the cingulate gyrus that are of typical size or even enlarged in portions. Brain studies to investigate the social nature of WS indicate that there are enlarged areas in the temporal lobe, associated with memory and language centers, along with increased blood flow to the hippocampus region of the brain related to memory retrieval. In a psychiatry study, they found that there is a large amount of grey matter (cortex) in the WS brain, overall, especially in the Heschl's gyrus which is in the primary auditory area, explaining why those with WS are such great auditory learners. In this study, they could not explain why this thick cortex occurs but theories are that either the missing genes cause an issue with the regulation of the cell growth here, or that the neural pathways are overused in a WS brain compared to those of a typical indivdual. This picture shows grey matter thickness in WS (on the left) compared to a typical adolescent (on the right). The red areas show the thickest areas of the grey matter. Although, there are several studies that show there are enlarged areas in a WS brain, they cannot conclusively say that there are the same enlarged in all of those with WS because there has never been a sample size large enough to do so. Scientists have long attributed IQ to the amount of grey matter in the brain, which is used for critical thinking and white matter, which is used to transmit information quickly across the brain. Both of these are needed to analyze and interpret ones surroundings. Therefore, many feel that generally enlarged areas of the brain will positively correlate to a higher IQ and smaller areas lead to lower IQ's. Considering those with WS have both makes for a very interesting conflict. This is one of the many reasons why WS is such a fascinating disability for neuroscientists to study. (Look for a future blog post on more about brain studies.) In sum... individuals with WS need speech therapy Overall, studies have shown that individuals with WS do not have a verbal ability higher than what would be expected of their cognitive ability. But, they tend to have areas of speech that appear more typical (such as grammar, ability to repeat what they hear, and concrete vocabulary). Those language strengths often disguise their weaknesses (such as spatial vocabulary and their ability to explain sequence). Therefore, as an individual with WS reaches adolescence, they often lose therapy related to speech. Speech therapy is very important for a child with WS since their language in all areas will be delayed. As they age, therapy can be adjusted to the child's needs but it should not be denied in full because there are areas that will put the student at a disadvantage in school. Sources: Children with Williams syndrome: Language, Cognitive and Behavioral Characteristics and their implications for Intervention by Dr. Mervis et al. Vocabulary Abilities of Children with Williams Sydrome by Mervis Information in the early childhood speech section was summarized mainly by the article above, by Dr. Mervis and partially by the following Masters thesis by Brittany Myatt: http://sdsu-dspace.calstate.edu/xmlui/bitstream/handle/10211.10/322/Myatt_Brittany.pdf?sequence=1 Sources on brain studies: http://www.ncbi.nlm.nih.gov/pubmed/18722146 http://www.ncbi.nlm.nih.gov/pubmed/17512756 http://www.annualreviews.org/doi/abs/10.1146/annurev.ne.12.030189.002113 http://www.sciencedirect.com/science/article/pii/0166223692903448 http://focus.psychiatryonline.org/article.aspx?articleid=50697

8 Surprising Ways Music Benefits Your Brain. Did you know, Our music choices can predict our personality or influence driving performance?

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

You’ve used binaural beats on yourself and seemed to notice some positive effects. You’re less stressed, much more creative, and able to sleep better at night. And then your dog waltzes into the room and you begin to wonder: Would binaural beats work on him? So, do binaural beats work on animals? Only considering the science behind binaural beats, … Do Binaural Beats Work on Animals? Read More »

Embrace the healing power of melodies with this elegant digital print titled 'Music Therapist'. Perfect for adorning the walls of therapy centers, music rooms, or as an inspirational piece in your home, this artwork resonates with anyone who understands the transformative effect of music. It features a beautifully scripted 'Music Therapist' at the top, followed by an inspiring message about the connection between music and the soul. The clean and minimalistic design ensures it blends seamlessly with any existing decor, providing a sophisticated and thoughtful touch. ✦ Instant Download: This listing is for a high-resolution digital file, available for instant download. No physical item or frame will be shipped to you, allowing for immediate access and convenience. We're excited to share our artwork with you for non-commercial use. These pieces are intended to enrich your personal spaces and experiences. Please note that they are not intended for commercial purposes. If you have any inquiries or require further assistance, feel free to contact us. Your understanding is greatly appreciated. WHAT YOU WILL RECEIVE: One high-resolution Poster in .jpg format at 300 DPI in five different ratios. 2:3 - 4”x6”, 8”x12”, 12”x18”, 16”x24”, 20”x30” 3:4 - 6”x8”, 9”x12”, 12”x16”, 15”x20”, 18”x24” 4:5 - 4”x5”, 8”x10”, 12”x15”, 16”x20” 5:7 - 5”x7”, ISO A2, A3, A4, A5 11:14 - 11”x14” prints 11” x 14" PRINTING OPTIONS There are several options available to print your files. You can choose to print them at home or take them to a local printer or photo printing service. Simply save your files on a USB thumb drive and bring them to the desired location. Alternatively, you can upload your files to an online printing service and have them delivered directly to your doorstep. To find suitable printing locations in your country, we recommend conducting an internet search with keywords such as 'Giclee Art Printing', 'Poster Printing', 'Photo Printing', or 'Online Digital Printing'. Additionally, you may explore canvas printing if you'd like. CHOOSING PAPER TYPE To bring out the best in our prints, we suggest using white satin or matt paper stock. However, the choice ultimately depends on your personal preference, and you may opt for gloss paper stock if desired. THANK YOU ! We wanted to let you know how much joy it brings us to imagine our artwork finding a special place in your home. Your support not only empowers us as artists but also fuels our creativity, inspiring us to craft even more unique and captivating pieces. We believe in the power of feedback and would be incredibly grateful if you could spare a few moments to leave a review of your experience with our small business. Your insights and opinions matter to us, and they help us improve our products and services.We're excited to share our artwork with you for non-commercial use. These pieces are intended to enrich your personal spaces and experiences. Please note that they are not intended for commercial purposes. If you have any inquiries or require further assistance, feel free to contact us. Your understanding is greatly appreciated.

It’s finally here! The tinnitus treatment ends the suffering of millions and has brought thousands into tears after seeing its incredible...

When it comes to developing a new habit, there’s always a concern about the dangers associated with it. Along with the many positive effects you might experience, there are also negatives that may occur, though usually rarely. Because binaural beats affect the functioning of the brain, some people are concerned that they may cause extreme … Will Listening to Binaural Beats Make You Hallucinate? Read More »

The brain’s somatosensory cortex may help enrich our emotional experiences and improve our mental health. Mindfulness and dance movement therapy may be effective ways to activate it.

Learn how music therapy can help improve quality of life and boost brain activity in those with Alzhheimer's disease or other memory loss conditions.