Showing posts from November, 2018

Epidemiology Overview - WILLIAM SYNDROME

Described by “William an Beuren” in 1961Rare genetic ConditionThe clinical manifestations include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hyper calcemia and a characteristic developmental and behavioral profile.Path physiology:- Haploinsufficiency due to a deletion at chromosome band 7q11.23 that involves the elastin gene (ELN) is implicated. ·William syndrome is not solely caused by elastin haploinsufficiency; the deletion involves a region that spans more than 28 genes – Contiguous gene deletion syndrome. ·Copy number variants in the 7q11.23 region have been found to be associated with autism in a study of over 4000 individuals who did not have William syndrome.
Epidemiology:- ·US – 1/7500 -20,000 birth ·Mortality – Cardiovascular disease ·Sudden Death – SVAS, Severe pulmonary stenosis and myocardial  ischemia secondary to either coronary insufficiency or biventricular outflow tract obstruction with ventri…


Williams Syndrome is a genetic condition characterized by unique facial features, delayed development, learning problems and certain personality traits. People with William Syndrome tend to have cardiovascular disease, connective tissue changes and endocrine abnormalities. Growth abnormalities are also common: - William Syndrome may cause poor growth in childhood and most adults with the condition are shorter than average. William Syndrome occurs in about one per 7500 births. It may also be known as William – Beuren Syndrome
Causes:- ·William Syndrome is caused by a deletion or missing piece of a region on chromosome 7. ·We have 46 chromosomes total arranged in to 23 pairs of 2. We inherit one copy of each chromosome in each pair from our mother and the other copy in each pair comes from our father. ·Within our chromosomes are segments of DNA (Genetic information) known as genes. Our genes are like instructions that tell our body how to form and function properly. We have over 20,000 genes…

How Do You Know What Therapy Is Right For Your Child With ASD?

If you have a child who is newly diagnosed with ASD (Autism Spectrum Disorder), or thinking of starting a new therapy program for a child with Autism then, I would highly recommend reading this article will helps you, What Kinds of Therapies Actually Helps to an Autistic Kids? By Dr. P. Sumitha Hemavathy. The learning curve about what therapy is right for your child with ASD can be daunting. Not every therapy works for every child, and it can take some time to find the right fit for you and your family. Parents often feel pressured into certain kinds of therapies to their child by well meaning friends and family or by what is being featured in the media.
Four tips to evaluate how therapy is helping your ASD child:
1) Enjoyment level. While this can be difficult to quantify, there are certain obvious signs for every autism child. In my experience, every child did much better learning when their therapy included favorite subjects, objects or activities. While not everything in life can be …

Could My Child Have Autism?

No individual symptom is a sign of autism, and no two children with autism have an identical symptom. There are no medical tests that can determine whether a child is an autistic, and there are no hard and fast rules how autism should be diagnosed. In fact, in some cases, it can be tough for even a professional to diagnose a child has an autism spectrum disorder. But if your child has the following symptoms and they can't be recognized to any other disorder it might be a good idea to consider an autism screening or autism evaluation.
Speech and Communication Delays and Differences Child with autism spectrum disorders (ASD) will almost have the challenges with speech and language, but unless the challenges are obvious (For Example, a five-year-old child with no spoken language), they can be hard to spot. That's because children with autism may use plenty of words, and may even use more words than their typical peers. Here are some tips for determining if your child is facing diff…