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Williams Syndrome: Diagnosis and Treatment

Medically reviewed by Sandeep Dhanyamraju
Medically reviewed by Sandeep Dhanyamraju

Williams syndrome is a pathological condition. It results from genetic defects in the human body. Symptoms of this condition include a specific appearance, muscle hypotonia, severe mental retardation, and an increased frequency of cardiovascular disorders. It is what diagnoses this disease. To accurately establish the Williams syndrome diagnosis, doctors conduct:

  • Fluorescent hybridization;
  • DNA microchip that shows the absence of a specific part of the chromosome.

Using modern genetic methods, researchers proved the hereditary nature of Williams syndrome. This disease is often the result of a spontaneous mutation. But it can be transmitted by an autosomal dominant mechanism. There is no specific Williams syndrome treatment. Doctors have not yet devised medicines or 100% prevention for this. But people can use symptomatic therapy to reduce this syndrome. If the disease provokes heart defects, then specialists perform a surgical intervention. And to make it easier for a person to adapt socially and improve their quality of life, doctors prescribe psychological therapy.

 

Williams Syndrome Diagnosis

Diagnosing such a disease is not a difficult task. Because specific facial features that are easy to spot can state Williams syndrome. These include plump lips, a flat bridge of the nose with a rounded nose, a pointed chin, and set ears. But this disease has many other signs. So, to make a final decision about the diagnosis of the syndrome, it is necessary to undergo a comprehensive examination of the patient. For William syndrome diagnosis, doctors prescribe the following:

 

  • Biochemical blood test to detect high calcium levels;
  • Electrocardiogram (ECG) to diagnose valve insufficiency and stenoses. It helps to detect the presence of pathologies and vices. These include aortic or mitral valve insufficiency and lung problems;
  • Fluorescence hybridization. A laboratory test with a chemical that glows under ultraviolet light. It allows scientists to see whether this gene is present in the body or not;
  • Molecular genetic analysis. It makes it possible to determine what is causing the child’s health disorders. For this, specialists use the technique of DNA microchip or FISH method. It detects whether there is a violation in the formation of the 7th chromosome. As a result, the absence of its area becomes clear.

 

Besides, doctors can determine Williams syndrome diagnosis by the child’s emotional and physical development. Usually, kids with this syndrome are too sociable. But, at the same time, they have mental disabilities. If the syndrome is difficult to establish, doctors prescribe other tests. These may include a kidney ultrasound, blood pressure check, and an echocardiogram. Tests can also show high blood pressure, stiff joints, and unusual tests in the iris.

 

Williams Syndrome Treatment

williams syndrome treatment

Unfortunately, doctors do not have a cure for this disease because it is genetic. So, doctors can not cure it entirely, but they can ease symptoms. The goal of any Williams syndrome treatment is to maximize the patient’s quality of life:

  • Doctors try to improve the ventilation function of the respiratory tract. Also, they try to prevent and cut infectious processes. 
  • Specialists restore airway patency with beta-agonists and cholinolytics. The medication regimen is supplemented with inhaled corticosteroids, mucolytics, and expectorants.
  • If Williams syndrome becomes more severe, doctors prescribe antibacterial drugs.
  • To end severe hypoxemia, doctors perform non-invasive oxygen therapy. According to indications, surgical intervention is possible.
  • Besides, specialists prescribe breathing exercises, massage, and postural drainage for the patients.

The only Williams syndrome cure is adherence to therapies. With their regular course, the disorder does not progress. Although partial social adaptation is possible with this syndrome, most patients need careful supervision by relatives. Thus, doctors say not to leave people with this disease alone. Also, it is better to keep them from hard physical work. Compliance with these rules will help improve the patient’s quality of life.

 

Complications of Williams Syndrome

williams syndrome in molecules

Like any other disease, Williams syndrome can have complications. For example:

  • A person may have a high calcium level in the blood. If you don’t lower it, it starts to progress. As a result, arterial hypertension develops with chronic heart failure.
  • Moreover, Williams syndrome complicates pulmonary heart disease. It leads to early disability and death of the patient.
  • One more, less frequent, and dangerous complication is secondary amyloidosis. It develops against the background of a chronic purulent process.
  • Williams syndrome can cause dystonias at an early age.
  • Spontaneous pneumothorax occurs in some cases due to air bubbles in lung tissue. Sometimes it forms single or many lung abscesses.
  • In 75% of patients with Williams syndrome, the aorta narrows directly above the heart. If it progresses and causes bad symptoms, people need surgery. 
  • Lung abscesses and spontaneous pneumothorax are also complications of the disease.

So, it is essential to follow Williams syndrome treatment to prevent such consequences.

 

A Word From Lone Star

William syndrome has many symptoms and characteristics, making it easy to detect this disease. But unfortunately, William syndrome has no specific cure that can help people get rid of this. So, if you need specialist support, Lone Star Neurologists can help you. We are professionals in the medical field, so we know how to deal with certain diseases. We can provide the right therapy and preventive measures for you.

 

FAQs 

  • Is there a cure for Williams syndrome?

There is no medicine for Williams syndrome that can completely cure the disease. Doctors focus treatment on specific symptoms. But if the condition becomes complicated, people need surgery or additional therapy.

  • How long do children with Williams syndrome live?

Children with Williams syndrome live just like all people. But if the disease causes complications to specific organs, it can shorten life expectancy. After all, the manifestation of symptoms can progress.

  • What do children with Williams syndrome look like?

Children with Williams syndrome have specific facial differences from other people. They have plump lips, rounded noses, broad foreheads, and small chins. Besides, they have problematic teeth that are widely spaced or crooked.

  • Who is at risk for Williams syndrome?

Williams syndrome affects an estimated 1 in 7,500 to 18,000 people. That is, the risk of getting this disease is not significant. But if one of your parents has this syndrome in your family, the chance of getting it is high.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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