How is Cri Du Chat syndrome diagnosed?
94193
that is true, but definitively this is a genetic disorder and it can be diagnosed with genetic testing of the baby.
208526
Most of the information in here is correct. Please do not self diagnose yourself with this disease however; it will make it hard to get an offical diagnosis. The only way to have it offically diagnosed is via Endoscopy with Duodenal Biopsy to confirm via villi. There are lab titers that can be drawn such as, TTG, IGA, IGG and Serum IGA to determine if you are in danger of having this disease. The TTG is the most common indicator of the disease. The IGG can be falsely positive in up to 3/4 of the population and even higher in other races. Prometheus Labs out of CA does a celiac panel that is pretty popular amongst providers; but can be spendy for the patient. Prometheus will also do a celiac gene test, to see if the pt has the gene present to have the disease. The Gliadin antibodies are the strongest lab markers today for tracing the possibility of having the disease. Also, Celiac Disease is also VERY common in pt's with Down Syndrome.
24677
that depends I assume there is some delay to correct. We would need to know the challange (dislexia, speech?} or the symptoms if the cause is not yet known
875978
AND, WHAT EXACTLY DID THE DOCTOR THAT DIAGNOSED YOU TELL YOU ABOUT THIS?\n\nYour doctor is the one to listen to here not perfect strangers. Even if someone had the similar disease it could very well react differently in everyone. Every case study is not the same.
597238
Sorry, no one can diagnose you based on a description.  Go see a doctor and then, not only can you be diagnosed, you can be treated...properly.
187820
Well..if you're trying to clinically assess someone for this condition, you might need a bit more information.  It could be a "Freudian slip", a form of "Apraxia" or what was stated earlier "foot in mouth."
827797
You will find it here.\nhttp://www.real-knowledge.com/chatacro.htm
644007
I'm getting sick of all the misinformation about this disorder, as seen in the first response to this question!  \n\nVERY FEW TS patients ever display this symptom and it is not a requirement for a diagnosis.\n\n***steps down off soapbox****\n\nNow to address your question.  Throat clearing, sniffing and excessive blinking are all common symptoms.  Tourettes does not impair intelligence or impede learning.  It is not degenerative.  It is life long and there is not a cure.  \n\nDisclaimer: I am not a heath care giver.  I am a mom of a child with TS.  \n\nWhat you will need to do is ask your regular Dr. for a referral to a Neurologist.   Tourettes is diagnosed merely by observation and oral history from you.  Your Doc may take blood to rule out other possibilities.  We were not sure if our sons tics and vocal tremors would present at the exact time of the appointment, so we video taped him.  This was most helpful in the diagnosis. \n\nTourettes is not the worst thing in the world.  Most people who have this disorder can incorporate their tics and vocal remors into their daily movements.  There are mild cases as well as moderate to severe.  If you are only doing the things you mentioned in your question, your case is probably mild.\n\nBest wishes and I hope this helped.\n\nHere is a great book: "Front of the Class: How Tourettes Syndrome Made Me The Teacher I Never Had", by Brad Cohen
207197
Go to a doctor and get a diagnosis stating that your disorder is caused by the chemicals.
1103205
I work with a Medical Assistant whose daughter had bells palsy about ten years ago. Specialists had told her stress had a lot to do with it; the daughter (20) was very frightened too, her speech was slurred and it was almost as though she had a stroke. I'm happy to tell you that her daughter (an RN) is in perfect health, and she never had the condition return. It took about three months for it to go away completely, but never returned. God bless you.
499176
Kartageners syndrome\n\nciliary dyskinesia
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Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. \n\nThe early symptoms of TS are almost always noticed first in childhood, with the average onset between the ages of 7 and 10 years. TS occurs in people from all ethnic groups; males are affected about three to four times more often than females. Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.\n\nTics are classified as either simple or complex. Simple motor tics are sudden, brief, repetitive movements that involve a limited number of muscle groups. Some of the more common simple tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking.  Simple vocalizations might include repetitive throat-clearing, sniffing, or grunting sounds. Complex tics are distinct, coordinated patterns of movements involving several muscle groups. Complex motor tics might include facial grimacing combined with a head twist and a shoulder shrug. Other complex motor tics may actually appear purposeful, including sniffing or touching objects, hopping, jumping, bending, or twisting. Simple vocal tics may include throat-clearing, sniffing/snorting, grunting, or barking. More complex vocal tics include words or phrases.  Perhaps the most dramatic and disabling tics include motor movements that result in self-harm such as punching oneself in the face or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). Some tics are preceded by an urge or sensation in the affected muscle group, commonly called a premonitory urge. Some with TS will describe a need to complete a tic in a certain way or a certain number of times in order to relieve the urge or decrease the sensation.\n\nTics are often worse with excitement or anxiety and better during calm, focused activities. Certain physical experiences can trigger or worsen tics, for example tight collars may trigger neck tics, or hearing another person sniff or throat-clear may trigger similar sounds. Tics do not go away during sleep but are often significantly diminished.
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The one i was receiving is fact. Here is more info:\n\nEmergency Medical Technicians (EMTs) have used a simple test for identifying stroke victims called the Cincinnati Prehospital Stroke Scale (CPSS). It’s fairly simple and is composed of three basic observations.\n\nCincinnati Stroke Scale\n\nFacial Droop\n\n\nNormal:      Both sides of face move equally\nAbnormal:  One side of face does not move at all\n\n\nArm Drift\n\n\nNormal:      Both arms move equally or not at all\nAbnormal:  One arm drifts compared to the other\n\n\nSpeech\n\n\nNormal:      Uses correct words with no slurring\nAbnormal:  Slurred or inappropriate words or mute\n\n\nKeep the CPSS in mind because I think you can see how the stroke test in the e-mail was developed. Researchers tested the CPSS by giving laypeople instructions over the telephone as they observed mock patients (1). With a trained EMT giving them instructions, the accuracy was over 90%, but to implement this system for all 911 personnel would require massive training and is probably not practical.\n\nHowever researchers from the University of North Carolina developed a test that appears to be based on the CPSS and when tested with laypeople, identified stroke victims with over 95% accuracy (2). It takes less than a minute and is very simple.\n\nThe stroke test consists of three simple parts:\n\nFirst, ask the person to smile--a big smile so you can see his teeth. That identifies any muscle weakness in the face, especially on one side--a classic symptom of a stroke.\n\n\nSecond, ask the person to close his eyes and lift his arms out to the side to shoulder level. If he can’t, that identifies muscle weakness associated with strokes--again, primarily on one side.\n\n\nThird, ask the person to repeat a simple statement to check for slurring of speech. Researchers used several familiar phrases such as “Don’t cry over spilled milk.” \nDuring the study, the last two were more easily identified than the smile test with almost 100% identifying the symptom correctly. The reason may be that unless you know the person, you don’t know what his or her smile normally looks like. The comparisons to the CPSS are obvious and the directions are easy to follow.\n\nThe American Stroke Association does not endorse this test because it’s based on a very small subject sample. Here are the warning signs for stroke promoted by the ASA.\n\nSudden numbness or weakness of the face, arm or leg, especially on one side of the body \nSudden confusion, trouble speaking or understanding \nSudden vision problems in one or both eyes \nSudden trouble walking, dizziness, loss of balance or coordination \nSudden, severe headache with no known cause \nThe warning signs are geared to the victims, but if someone is experiencing confusion, he wouldn’t be the best judge of what his body is experiencing. However, if you feel any of those symptoms, get help immediately.\n\nThe stroke test is geared toward laypeople. They’ll make mistakes in their interpretation of symptoms, but it would be an error worth making if the person is indeed having a stroke. Why? Because the faster the person is treated, the less permanent the damage may be. Strokes can be debilitating, leaving a person speechless and paralyzed. Minutes count and this test would appear to help speed things up. There doesn’t seem to be any downside to it.\n\nWhat do you do if you believe the test is positive? Call the emergency service number like 911 or if not near a phone, get to the victim to a hospital immediately. You may not just save his life--you may help him preserve a good quality of life.\n\nReferences:\n\nLiferidge AT, et al. Ability of laypersons to use the Cincinnati Prehospital Stroke Scale. Prehosp Emerg Care. 2004; 8(4):384-7.\n\n\nHurwitz A et al. Untrained Adults Can Identify Symptoms of Stroke by Directed Use of the Cincinnati Prehospital Stroke Scale. Abstract presented at the 2003 International Stroke Conference.
363578
Autism Spectrum Disorder (ASD) and dyspraxia with SID are going to look VERY similar, and I am sure are often misdiagnosed.\nA person with Autism may exhibit one or more of the following, additional signs/symptoms:\n- Poor eye contact\n- Lack of social skills\n- Behavioral issues that may include injurous or self-injurous behaviors.\n- Unusual preoccupation with parts of objects (most often wheels on vehicles, strollers, etc).\n- Innaproprtiate emotional response to his/her environment.\n\nHope this helps.  Best of luck!
672770
When you say "deemed," it makes me wonder who is doing the determination. Autism or any autistic spectrum syndrome, such as Asperger's, has a set of criteria for diagnosis. Only a medical professional can make the diagnosis of autism. \nSecondly, "social autism" doesn't exist in isolation apart from other aspects of the person - cognitive, emotional etc. To learn more about these neurological syndromes, visit the following site:
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you can try to diagnosis yourself by going to http://www.webmd.com/\n\nOr some times your Dr. will ansew quetions threw e-mail. but I think it's best to see a dr. in person no matter what.
453976
Why can't you ask a psychologist to diagnose you... are you under age and your parents don't want to (go see the school counselor)? Is there no insurance or an issue with your insurance company in this regard? Or does the mere thought turn your anxiety up through the roof (this one is a strong indicator for the first condition I mention below)?\n\nAnyway...\n\nLosing concentration in a social situation, and having difficulty conversing with others, could be any number of things.\n\nSocial Anxiety/agoraphobia is the most likely cause, but it takes a clinical psychologist or psychiatrist to do any diagnosis, so don't take what I'm saying as one. Anyway, agoraphobia is treated with medication and therapy. It can also contribute to difficulty concentrating at school and in other stressful situations, and can be a quite serious condition.\nYou might have attention deficit...but that by itself usually does not make someone a "social recluse"...quite the opposite!\nIt probably isn't Asperger's (although like I said before, I'm not diagnosing you, here). In the autistic spectrum, the person does not read social cues from others or learn social rules effectively. They also usually don't show their own emotions with the same set of body language as everyone else. While people with autistic-spectrum disorders, especially the higher-intelligence ones, feel a great deal of anxiety in social situations, it's more a foot-in-mouth problem rather than clamming up, especially for Aspergers. This is a generalization, but I'm trying to summarize this in less than half a page..lol.\n\nAnyway, the ONLY way to really identify your exact issue and needs is to get a diagnosis, and treatment through couselling (and medication if absolutely necessary).