I found this article and found it a bit interesting

Researchers believe they have identified a molecule that could be targeted to treat mental impairment in people with Down’s syndrome.

A team at the Institute of Psychiatry at King’s College London found people with Down’s syndrome have higher levels of myo-inositol in their brains.

They also found increased levels of this molecule are associated with reduced intellectual ability.

The study is published in Archives of General Psychiatry.

The researchers also suspect that high levels of myo-inositol could play a role in predisposing people with Down syndrome to early-onset Alzheimer’s disease.

The molecule is known to promote the formation of amyloid plaques – a hallmark of Alzheimer’s.

Once they reach the age of 40, almost all people with Down’s syndrome show the brain characteristics of Alzheimer’s disease – though they do not all go on to develop dementia.

The combination of pre-existing mental retardation with an increasing overlying dementia is difficult to treat, and expensive to manage.

Reducing concentration

Lead researcher Professor Declan Murphy said: “We have shown in this study that adults with Down’s syndrome have a significantly higher concentration of myo-inositol in the hippocampal region of their brains, and this increase is associated with a reduced cognitive ability.

“We are now carrying out more studies to see if we can reduce the concentration of myo-inositol in the brains of people with Down’s.

“We hope that if we can do this, it will be a new way of treating this (devastating disorder.)”

Down’s syndrome is the most common genetic cause of mental impairment.( And this it’s not always a mental impairment. Every situation is different.

It is caused when a child has three copies of chromosome 21, rather than the usual two.

The latest research has shown that one of the genes on chromosome 21 controls production of a protein that pumps the molecule myo-inositol into the brain.

The increased levels of myo-inositol in the brains of people with Down’s syndrome could be explained by the fact that these people have an extra copy of the gene that makes this pump.

Not a cure

The Down’s Syndrome Association said it welcomed any research that may have a beneficial effect on the lives of people with the condition.

In a statement, the charity said: “We are very pleased that scientists are producing results that help us to understand the reasons behind Down’s syndrome’s associated learning disability.

“However, the Institute of Psychiatry’s research does not herald a ‘cure’ for the condition, and any treatment available is still a long way in the future.”

The researchers used sophisticated scan technology to measure the concentrations of myo-inositol in the brains of 38 adults with Down’s syndrome and 42 healthy controls.

I recently read a post by a good friend of mine that has a son also about the same age as Lucian with down syndrome. The things that he stated in his Blog are so very true. It was so delighting to read a blog that some one else has written that came from there heart that knows exactly what I mean and how i feel as a parent to a child that has been diagnosed with Down Syndrome. (Yes Nick I am speaking of you.)
In his blog he says…. That his son so long ago became “normal”. I can relate to that. I saw nothing un normal about Lucian except for the fact that he was born with esophageal atresia. The down syndrome when he first got diagnosed I was wondering what we were in for because I didn’t know to much about it. But seriously what is there to learn? Exactly nothing. Nick states that his son learns things more slowly than they did but already he’s shaping up to be every bit as much a pain in the backside as they are, and it cheers him up no end. He’s going to get shouted at, and that is fine. He’ll make us furious at times, and that is great. He’ll wreck the place and we’ll put our faces in our hands or – more likely – have a shouty fight with each other about something apparently entirely unconnected. There will be strife, despair and a sense that somebody, somewhere, pressed the pause button on our two lives when we weren’t minding the shop. Same as our Lucian. Another thing he put in words very well is that….If you have a kid with Downs who has health issues, then of course these issues can bring hardship and suffering, but they are not Ds. Your child is not Ds. Your child may have it, but that does not define them, any more than being blond, Asiatic, left-handed, good with science or fond of natural fibres defines them. It’s an aspect of their lives, one that most people do not experience up close and therefore fear, or are made uncomfortable by. How Godforsaken would the world be exactly if we were to strip away every aspect of our otherness, each and every one of us? What ‘common’ traits would be left? I couldn’t have said it better myself. I mean seriously. What is so Normal about the people who don have the diagnosis d.s? Nothing. We are truly the ones that are not normal. I notice everyday something that Lucian learns that is new and he amazes us everyday as well. He picks up on things so quickly and mimics his older brother and sister all the time it is quite scary. So for those of you out there that are so terrified of having a child with down syndrome maybe you should sit back and think about how blessed those of us who do have a child with that diagnosis are so blessed. The people that are so scared should no that there is nothing to be scared of it. Us parents out there have these children for a reason and it is because we are strong enough to handle whatever is thrown are way and not everyone can handle things like this. Why I ask myself it is no different. Lucian having esophageal atresia was far more frighting then some diagnosis from a geneticist that was trying to tell me how my sons life was going to be when he had no clue at all.

Autism is a sensory disability in which everything your child sees, hears, feels, tastes and smells is distorted.
They may see every strand of hair on your head individually with more detail than a Dandruff commercial, hence the need to push your hair off your face.
They may taste food in individual components that make the slightest change to the recipe seem like an entirely different food.
Touch can be too light to feel or too intense to bear, or both!
And sound most unfortunately can be very distorted, either because they hear everything and cannot tune in to what’s important, ie. your voice, or because they only hear the higher sounds or the lower sounds that are in their environment.

There are a myriad of variations on these “Unders and Overs” and no two children are alike. (Believe me I have a sample of two!)
So, imagine if you like, that having autism is a bit like being in a very busy foreign capital city where you don’t speak the language and everyone is too busy to give you directions.

You can’t read the street signs and you cannot understand what people are saying to you, or even pick up on any kind of pattern in the words they are using, as everyone talks too fast. The traffic is loud, it is really hot and you want a drink; but you don’t know how to ask for it and nobody can understand you.
Eventually you are going to recognize which shops are likely to have drinks for sale, but you will probably going to feel more comfortable going into a place where you can get it yourself.

That is how your child feels.

That is why they do not learn to imitate speech and ask for things, but instead lead you to what they want or build complex towers of chairs and climb up to get the things they need, rather than just ask for them.

That is why they often learn to read and count and do puzzles, because those things have a recognisable and consistent order; before they learn to say Mama or Dadda.

When I travel I quickly learn the written word for supermarket (Alimentari, Supermarche, Supermercado) and Toilet (Servisos) but it takes me a long time to pick up on what people are saying as they speak so fast, often with an accent or variable dialect.

When a child with autism looks at you out of the crib, they are being bombarded by such a range of sights, sounds and sensations that they are not going to pick up on your reactions. They may appear to have picked up a few words, which they use randomly, but will not necessarily, notice your reaction to the words.

A typically developing child will realize that you react and praise the first time they chance on that sound, and do it again. The autistic child will be distracted by the fantastic prism the light is making through the window, or pins and needles sensation they get every time you touch them or any one of a number of sensory over and under loads. So they have a lot of distraction when it comes to imitation and learning.

And that’s where the structured breakdown of the skills they need comes in.

I am still alive but I am tired and I have a terrible cold or something. Probably got it from Lexi and Lucian I know I feel terrible. I am exhausted from working. I have had probably 8 hours of sleep in the last couple days between everything. Lucian is still sick but he has not been vomiting like he was. He is so stuffy though.But he was in a great mood before I left for work yesterday. I hope I feel better soon I do like like feeling like this and it is even harder pregnant. I have a head ache which I am sure is from lack of sleep. I swear I am going to get off work and one of these days I am going to sleep sleep sleep, I hope. I fell asleep yesterday before I had to got to work for an hour and not on purpose either, I am so thankful to have Travis especially when I get wore down like this because he helps me out quite a bit. Some men don’t help at all. I over slept yesterday anyways by like 15 minutes its alot when you have to value each minute of your time to get things accomplished. I am thinking of picking up a second job. We could use the extra money and if I can just hang in there for a while longer. I want to try and save up money so that I can take a little extra time off after I have the baby, But one day at a time. I am just glad this week is almost over. I am going to have lots of appointments coming up here soon. Storms have been super bad here lately. High winds rain tornado’s boy o boy. After I got to work on Wednesday I felt kind of bad because I found out that on that night they were stripping the wax off the floors and then rewaxing and there was no way i could of stayed and helped one the smell and me being pregnant two they didn’t leave until 6:45 am and I would have gotten to work at 4 and had to stay that long. Even if I would have stayed until 2 I wouldn’t have got home home until 2:30 ,2:45 and then it takes me an hour to wind down and I have to shower and so I wouldn’t have got to bed until probably 3:30 and honestly with Lucian being sick and me having to pee and having heartburn. I only got about 3 hours of sleep anyways. I probably wouldn’t have even gone to sleep and then last night I was up all night couldn’t breathe , had heartburn and to pee and Lucian is all stuffy so he keeps loosing his bink, it has been a time but I know it will get better and that is what keeps me going. Anyways after we closed last night we and to put an extra coat of wax on the floor so it involved moving all the displays and it really didn’t take that long I was home by 12:15 but the smell of that stuff o my god. I will say I was quite pissed when he called and said we had to do that. Technically the other kid that was working did the wax because I have never done it before,and apparently there is a special way you have to put it on. I just don’t like breathing in all of that being pregnant.
Lexi is doing better her cold is pretty much gone. Jordan never really has gotten it praise the lord and little Lucian and I well I guess I shouldn’t have been kissing him in the face and maybe I wouldn’t be sick right now but I love giving him kisses and he loves it to. The smile on his face. My little bubbers, I am hoping I can drink enough coffee and not get sick this morning to atleast get me through the day.A couple cups. It is bright and sunny today. I clicked on nancy grace last night and there are so many precious missing little children and I just don’t get it. There are so many nasty sick people out there. I mean how is someone going to abduct a child from there own yard to get a 4 year old and when the older 12 year old sister tried to help her he knocked her in the head. I pray they find this little girl and I m wondering what happened to Haleigh Cummings no news on that so is she just gone they give up and that is it but caylee is dead and found and she still gets all the coverage. don’t get me wrong that story I fallowed from the beginning and it touched me and they can still cover the trail but every kid deserves the same chance as another to be found. It makes me mad. Anyways I have to get off of here because I have to leave for work soon and before that I have to get Lexi dressed Lucian dressed fed and diapered and myself situated in a short amount of time. I hope you all have a great day.

I recently read an article and I really found it disturbing. With you I will share the article an you can tell me in your own words how you take the article. Article By Amanda Cable
Sue, 45, lives near Bristol with her second husband, Simon, and two of her children, Leanne, 24, and Jake, 18. She says:

A photograph of Nathan and myself is kept by my bed. It was taken last summer, when I took him to Disneyworld to celebrate his 18th birthday. I’ve always kept in contact with my son and seen him on his birthdays, but this was extra special – the holiday of a lifetime.

In this snapshot – my favourite picture – we are both looking horrified and thrilled as we plunge on the rollercoaster together.Nathan with birth mum Sue, who gave him away for adoption 20 years ago
Those two weeks that I spent with my son were the happiest days of my life.

It was as if I had been taken to heaven – to be able to hold him, smell him and enjoy my boy again.

But at the end of each day, Nathan would walk to a window, look out wistfully and say: ‘Can we ring Mum today? Can I speak to Mum?’

And, of course, he meant Alex – the woman who adopted him after I gave him away.

Since Nathan was born, so many knives have twisted into my heart.

But, strangely enough, I didn’t feel jealous that he loves Alex more – or that she is ‘Mum’ to my son – because I was the one who handed Nathan over as a baby. I handed over the right to that intense love.

All I wanted was for him to be happy – and I’m happy that he has found someone he truly loves to raise him.

Perhaps the real sadness of my situation is that my decision to give Nathan up for adoption was made at the loneliest and most terrifying point of my life.
‘The thought made me shudder’

I honestly believe that if just one person had said to me: ‘Sue, you can cope. You can manage with this baby’, then I would happily have kept him and both our lives might have been so different.

When Nathan was born, I was 25 years old – I had no life experience whatsoever. I had grown up in a small town outside Bristol, left school to work in a factory and at the age of 20 married my childhood sweetheart, Trevor – my first and only boyfriend at that time.

A year later, our daughter Leanne was born. All our friends were having babies at the same time, and soon I was pregnant again. When I was six months gone, I went to a shopping precinct.

There, walking towards me, was a woman in her 60s, with a tight perm, looking exhausted and haunted.

She wore a cheap elasticated skirt, had sandals on over swollen ankles and her shoulders were slumped. She looked despairing. Holding her hand was her son – a man of about 30, with the distinctive Down’s syndrome features.

It was the first time I had seen anyone with Down’s syndrome, and I couldn’t get the image of this boy-man and his mother out of my mind.

I just remember thinking: ‘He’s never going to leave home.’ The thought made me shudder.
Nathan was born on March 9, 1988. They wrapped him in a blanket, put him in my arms, and my husband took a photograph. I remember thinking: ‘We’ve got a little boy – lovely’.

Then, suddenly, the midwife took him from my arms and walked out. For three hours, I kept asking for my baby whenever a doctor or nurse came into the room, but no one would tell me what was going on. I could only see the pity in their eyes. I felt terrified.

Finally, we were taken to a special care baby unit, where Nathan lay in an incubator.

A nurse took my hand; the doctor said: ‘Nathan isn’t going to die, but he’s a Mongol – he has Down’s syndrome.’

With that, he handed me three leaflets – with awful old-fashioned images of children with their tongues hanging out. All I could think of was the woman in the shopping precinct with her grown son stumbling beside her. I thought: ‘Was that an image of me in the future?’

I was in shock. I couldn’t bring myself to ring my mum. I didn’t even know what to say to Trevor, and he couldn’t find any way of comforting me. I actually thought: ‘I’ll tell people he has died, then we can walk away from the hospital and pretend this has never happened – but I realised I couldn’t live a lie.’

I couldn’t bring myself to hold my baby either, though. I was terrified of falling in love with him – and I knew that there would be no choice. Already, someone had mentioned adoption.

The next day, my mother and family came in to see the baby, and someone took a photo of us all together. I remember looking around and thinking: ‘You are never going to be part of this family.’
Deep depression

We left hospital 24 hours after Nathan’s birth – and left him there. He was still in special care, where he remained for a week. It was almost accepted that I should just leave without him.

At the end of the week, someone rang me and said: ‘We can’t keep him at hospital, he’s fit now. If you want him to go to foster care, we will arrange it.’

So it just all happened, while I sat in shock. Not one person – the medical staff, my husband or friends – even hinted I should bring Nathan home.

Leaving hospital without a healthy child was perhaps the most miserable experience of my life.

Going home to the nursery we’d prepared was so hard. My next-door neighbour had just had a baby.

At night, I heard a baby crying and I would run into the empty nursery, looking for my son. Then I would remember that he wasn’t perfect, and he wasn’t here – and it would hit me like a physical pain.

My arms ached to hold Nathan again. But I knew nothing about children with Down’s syndrome, and it terrified me.

It only would have taken one person to say: ‘Come on Sue, let’s love him, you can do it’ – but no one did. My friends melted away from me, and my husband wouldn’t say those words that I needed to hear.

Nathan was taken to a foster home after a week, and I was allowed to visit. Even so, by then I’d made my mind to have him adopted. I tried to cram all my motherhood into those few hours – bathing him, feeding him and smelling his beautiful baby smell.

One minute I thought I would keep him, the next I swung, like a pendulum, into a deep depression.
I was still in shock, and was left to make the biggest decision of my life with no support. I went to see children at a local special school, and one boy with Down’s syndrome ran over and gave me a huge bear hug. It terrified me. At that moment, I realised I couldn’t keep Nathan.

I can’t remember the moment I told the social workers I wanted to put my baby up for adoption. But the decision had been made when I first heard of Alex Bell.

I was doing my ironing, crying – I wept constantly – and watching daytime TV. There was a feature about this amazing mum from Manchester who had adopted three boys with Down’s syndrome and was looking to adopt one more.

She said: ‘Somewhere out there is a baby which has been born and is destined to be mine.’

I started to shake, and I taped the rest of the programme. I watched it over and over again. Six weeks later, the social worker arrived to update me on Nathan’s adoption. They had put his picture in an adoption magazine, and 200 people had applied to take him.

There was a shortlist of three, and the social worker read me brief details. When he came to the last one, he said: ‘There’s a single mother who has adopted three boys with Down’s syndrome.’

I ran to the video tape, put on the programme and pointed to Alex. I was shaking, and I said: ‘It’s her, isn’t it.’
‘I was a nervous wreck’

The social worker just threw his papers in the air and smiled.

The thought that Nathan would be loved by this incredible woman made such a difference.

Weeks later, when the adoption had been approved, I was told that Alex wanted to meet me. I was utterly terrified. I thought she’d walk into my immaculate house and see all my nice things and think: ‘She has a lovely home. Why is she giving away her baby?’

I was a nervous wreck. But Alex walked in through the door and said: ‘Put the kettle on and make me a tea.’

It was the first time, since Nathan had been born three months earlier, that anyone had said anything normal to me – the first time I felt I could breathe.

Looking back, at the time, I was falling apart. Alex saved me. She mentioned open adoption – giving me the chance to stay in contact with Nathan – and although the social workers weren’t keen, we both insisted that this was what we wanted.

Nathan went to Alex when he was eight months old, having remained in foster care up to that point. Even up until the final hour, I kept having panic attacks.
Marriage split

I can’t remember the time I saw him last before handing him over – I was too grief-stricken. By now, I was pregnant again. I didn’t want to replace Nathan, but I felt that without another baby to hold, I would just fall apart.

Alex sent me a postcard after a few weeks, and said Nathan had settled down. On Christmas Day, she rang to thank me for a gift I’d sent to Nathan.

On Nathan’s first birthday, she caught the train from Manchester and we met for three hours.

I hardly recognised my own son. He was so happy and healthy, and was lying on his front and lifting his head. I was buzzing with happiness just to see him again.

Over the years, I continued to see Nathan on his birthdays, just before Christmas, and once for a summer party at Alex’s house. It was wonderful to see him growing up so happily – but each time I said goodbye, I would fall into an awful, catatonic depression.

My marriage split up within two years of Nathan’s adoption and I know it was largely because of my husband’s failure to support me over our baby. I resented the fact that I had been so alone and so vulnerable.

I still live with the guilt that I gave Nathan away. I think of him every morning when I wake, and every night as I go to bed.

When we are with him now, we have such fun together as a family – myself, my second husband Simon, Leanne and my son Jake. I often think: ‘This is what life would have been like for us. We could have been a proper family.’

THE ADOPTER

Alex Bell, 53, has adopted eight children with Down’s syndrome, and cares for her family in a ten-bedroom home outside Manchester. Nathan was the fourth child she adopted.

I first saw Nathan beaming up at me from a photo in an adoption magazine.

Here was this beautiful happy little baby, and just three lines written underneath, saying: ‘Three-month-old baby boy needs a new home. Down’s syndrome. No complications.’It was as if the photograph had jumped up and grabbed my heart – I just knew that he had to be mine.

I had already adopted three older boys, all with Down’s syndrome, but I was longing to hold a baby in my arms for the first time. I had already been approved to adopt again when I happened by chance to see Nathan’s photograph. I immediately rang up.

I don’t judge people who hand over their babies for adoption. How can anyone say how they would feel in that situation, if their hopes and dreams for a perfect child had fallen apart.

Often, they have their marriages and other children to consider. Not everyone has the support that they need to raise a child who may have challenges.

But I really wanted to meet Nathan’s mother before he became mine. I wanted to know who she was, what she was like – and get some sense of why she had come to the decision.

My chance came when I met Nathan for the first time. The adoption had been approved, and the social workers arranged for me to come and see Nathan at his foster home.

He was the most beautiful baby I had ever seen – with enormous dark eyes. He was friendly, happy and well cared for.

I thought of the mother who was giving him up and realised she must be going through hell. I thought: ‘She deserves to meet me, to see where her boy is going.’

So I asked the social worker to arrange a meeting. He rang Sue, and she agreed to meet me straightaway.
We went to her house, and when she opened the door I saw the definition of hell. Sue was in utter torment. The agony was there in her face.

This was not someone who was handing over a baby because she could not be bothered or because she wanted a perfect child. This was a mother who loved her baby dearly, and who was in an appalling physical and mental state.

We had a cup of tea together, and I told her about my life with the boys. Sue seemed to relax – I liked her enormously, and I had a strong feeling that if she had more support around her, she would be raising her son herself.

We both agreed that Sue should remain in contact with Nathan. I am always honest with my children. They know where they came from, that they had other birth mothers.

I wanted Nathan to grow up secure in the knowledge that his birth mum had loved him, too.

A month later, I picked Nathan up and drove him home as my own son. Sue had handed over all his baby clothes, and all the teddies and toys she had bought during her pregnancy.

At first, our contact was sporadic. But as Nathan settled, I started to write, or telephone, just to let her know how happy he was.

We were all so happy. For me, the joy of holding a baby in my arms and giving him his bottle meant so much. I had never known so much contentment.

I decided I wanted to adopt children when I was 22 and working as a teacher in a special school. I was single – I had boyfriends, but the rush of love in my life came from the children I worked with, not men that I dated.

I never felt the desire to marry, but I did want to care for a child who needed me.

It took four years to be approved as an adopter, because in those days it was almost unheard of for a single woman to adopt, and then another 12 months before they found me a child.
‘I fell in love’

Finally, in the spring of 1984 the social worker called at my home, and said ‘This is your child.’

She handed me a snapshot of Matthew, a little boy with Down’s syndrome who was almost two years old. He was absolutely gorgeous, with light brown hair and blue eyes.

A week later, I was taken to see him at his foster home in Watford and I fell in love. The first six months were tough – Matthew cried a lot – but once he settled, I knew that I wanted him to have a brother or sister.

My next son was Simon, another boy with Down’s syndrome. He also had a heart condition though, and a life expectancy of just five. I then applied for a third time and was given Adrian, who was nine; he has Down’s syndrome, too, and autism.

I loved being a mother of three, but I really wanted to experience the whole baby thing – changing nappies, holding a little warm body in my arms.

That’s when Nathan came into my life. It has been such an honour to be his Mum. I love him just as much as I could ever love a biological child.

Perhaps my only regret is the amount of pain that Sue went through after he was born. We both went on to have more children. Sue had another baby boy, and I adopted another four children with Down’s syndrome.

Nathan is now a happy and much-loved brother and son. When I see Sue and him together, I see the pain washed away from her eyes. I never feel jealous about the time he spends with her – I want my children to feel as loved as possible. In the end, Sue and I just both want the same for Nathan. After all, we are both his mothers.

Why I don’t understand what is so differently about him. Why he wasn’t loved from the time he was inside her how can that love of a mother change.? He didn’t ask to be here no child does none of us ask to be here actually we all just are. Everyone is different no on is the same if it were that way it would be a very boring world. Everyone being different is what makes people grow and get stronger. I don’t understand how those thoughts can even enter someones mind about there child.

Alzheimer’s disease – a type of progressive dementia in which individuals exhibit severe memory loss and abnormal behaviors. Alzheimer’s disease is more common in people with Down syndrome than in the general population.

Anal Atresia – incomplete development of the end of the intestinal tract (anus). Also called imperforate anus. Anal atresia is more common in Down syndrome population than in the general population.

Anal Stenosis – a narrowing of the anal opening, which makes it difficult for stool contents to pass through easily. Similar to imperforate anus. An anal stenosis is a malformation more common in Down syndrome population than the general population.

Annular Pancreas – a ring of pancreatic tissue encircling the small intestine resulting in intestinal blockage. Annular pancreas is more common in people with Down syndrome than in the general population.

Apnea – literally means “without breath”, and is the term used when someone stops breathing for very short periods of time, usually 10 to 20 seconds. “Obstructive Apnea” is the term used when respiratory efforts continue, such as movements of the chest. Apnea causes decreased oxygenation of the blood. Symptoms of Obstructive Sleep Apnea (OSA) are: snoring, restless/disturbed sleep, frequent partial or total awakenings and daytime mouth breathing. Some children with OSA have odd sleep positions, often with their neck bent backwards, or even in a sitting position. Some children with OSA sweat profusely during sleep. In adults, there is an association of obesity, but that’s not a common association in children. People with Down syndrome have a higher risk for apnea, between 45 and 57% of people with Down syndrome suffer from apnea.

Atresia – absence of a normal opening.

Atrial Septal Defect (ASD) – an opening between the two atria, the upper chambers of the heart.
There are several types of ASD. The main types of ASD are:

1. Ostium primum, (ASD1°), opening between the two atria in the lower part of the septum often involving mitral valve abnormalities. This endocardial cushion type of ASD is a partial form of AVSD.
2. Ostium secundum (ASD2°). This is often difficult to distinguish from a PFO.
3. Other types of ASDs (e.g.,single atrium).

Atrioventricular Septal Defect (AVSD) – a variety of defects (or malformations) of the muscular septa that separate the two atria and the two ventricles of the heart and the adjacent parts of the mitral and triscupid valves. Can be partial or complete. May also be called AV Canal (AVC), complete AV canal (CAVC), partial AV canal, endocardial cushion defect (ECD), common atrioventricular opening, common AV valve.

Complete AVSD has both an ostium primum-type atrial septal defect (ASD1°) and a particular type of ventricular septal defect or VSD (inlet, inflow VSD).
Partial AVSD can be either:

1. an ostium primum-type atrial septal defect (ASD1°) without a VSD. The ASD1° is often accompanied by a cleft mitral valve (aka bicuspid valve, the valve between the left atrium and left ventricle. Common atrium is also an ASD1°.
– OR -
2. a VSD of the AVSD type.

AV Canal – see Atrioventricular Septal Defect
Behavioral Audiogram – A special hearing test that should be given at 1 year of age. Children with Down syndrome have a 50% to 70% risk for developing ear problems, a health professional should regularly inspect his or her ears for signs of fluid behind the ear drum (otitis media with effusion).

Chromosomal Trisomy – having three copies of a particular chromosome instead of the normal two copies.

Chromosome – a grouping of coiled strands of DNA, containing many genes. Most multicellular organisms have several chromosomes, which together comprise the genome. Sexually reproducing organisms (humans, most animals and plants) have two copies of each chromosome, one from the each parent. Every chromosome contains specific genes that carry hereditary information.

Chromosome Number – the usually constant number of chromosomes characteristic of a particular kind of animal or plant.

Common Atrioventricular Opening – see Atrioventricular Septal Defect

Common AV Canal – see Atrioventricular Septal Defect

Common AV Valve – see Atrioventricular Septal Defect

Complete AV Canal – see Atrioventricular Septal Defect

Congenital – present at birth.

Congenital Cataracts – cataracts present at birth. Cataracts are more common in people with Down syndrome than in the general population.
Diagnosis – the act of identifying a disease from its signs and symptoms, or investigation or analysis of the cause or nature of a condition or medical problem.

Disease – an impairment of health or a condition of irregular functioning; abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person.

DNA (Deoxyribonucleic Acid) – The long, spiraling molecule that orchestrates the cell’s daily operations and provides the genetic blueprint for the physical characteristics of all living organisms. When made up of two strands, the strands intertwine like a spiral staircase to form a structure called a double helix. Subunits, called bases (A,C,G,T), are the rungs of the staircase. In most organisms, DNA is organized on chromosomes located in the nucleus of the cell.

Double-Outlet Right Ventricle (DORV) – both the pulmonary artery and the aorta arise from the right ventricle. Often accompanied by VSD and other defects.

Down syndrome (DS) – Down syndrome is caused by an extra chromosome 21 in the majority of cells of an individual, sometimes called trisomy 21. The extra chromosome is present from before or shortly after conception. Individuals with Down syndrome have mental retardation, characteristic facial features, low muscle tone, and, in some cases, birth defects including heart abnormalities. 95% of Down syndrome is due to an extra, free-standing chromosome 21. This type of trisomy 21 is not “inherited”. It is due to a spontaneous error that occurs during the formation of either the egg or the sperm, or, in rare cases, during the first cell divisions after fertilization {see Mosaic Down syndrome}. In the other 5% of Down syndrome, the extra chromosome 21 is present because it is attached to another chromosome. This is called a translocation and it can be inherited.

Duodenal Atresia – a condition in which the duodenum (the first part of the small intestine) has not developed properly. It is completely blocked and cannot allow the passage of stomach contents. Duodenal atresia is more common in people with Down syndrome than in the general population.

Duodenal Stenosis – a block of the first part of the small intestine (the duodenum). Stenosis refers to a partial block. Duodenal stenosis is more common in people with Down syndrome than in the general population.

Endocardial Cushion Defect – see Atrioventricular Septal Defect

Esophageal Atresia – incomplete development of the esophagus, where the esophagus usually ends in a blind pouch before reaching the stomach. In over 85% of esophageal Atresia, there is an accompanying tracheoesophageal fistula. The disorder is usually detected shortly after birth when feeding is attempted and the baby coughs, chokes, and turns blue. Immediate surgical repair of this disorder is required so that the lungs are not damaged and the baby can be fed. Babies with Down syndrome have increased risk of Esophageal Atresia.

Esophagus – the tube that connects the mouth to the stomach.
Fistula – abnormal passage from a body organ to the body surface or between two internal body organs.
Gastrointestinal Defects – structural defects that can occur at any point along the gastrointestinal tract, which is made up of the esophagus, stomach, small and large intestines, rectum, and anus. The incomplete or abnormal development of any of these organs can cause obstructions or blockages that can lead to swallowing difficulties, vomiting, and problems with bowel movements.

Gastroschisis – A birth defect in which there is a separation in the abdominal wall. Through this opening protrudes part of the intestines which are not covered by peritoneum (the membrane that normally lines the inside of the abdomen). Babies with Down syndrome appear to have a reduced risk for gastroschisis.

Genes – units of heredity passed from one generation to the next. Genes are segments of DNA on a chromosome containing instructions essential for the physical development and behavior of an organism. Often one gene may determine one physical characteristic such as eye color. Sometimes multiple genes may be involved, such as in height determination.

Genetics – a branch of biology that deals with the heredity and variation of organisms.

Genome – an organism’s total genetic information contained in the full DNA sequence of one set of chromosomes. The normal human genome consists of 3 billion base pairs of DNA in each set of 23 chromosomes inherited from each parent.
Hematological Neoplasms – - types of cancer that affect blood, bone marrow and lymph nodes. Cancers in this classification include leukemias, lymphomas, and myelomas.

Hirschsprung’s Disease (Congenital Aganglionic Megacolon) – Disorder of the large intestine caused by the absence of certain nerve cells in the bowel wall. A section of the large intestine is missing the nerves that control its contractions, resulting in severe constipation and sometimes bowel obstruction. Hirschsprung�s Disease is more common in people with Down syndrome than in the general population.

Hypothyroidism – - the thyroid gland does not make enough thyroid hormone. It is the most common thyroid problem associated with Down syndrome. Also known as an under-active thyroid, hypothyroidism may cause a variety of symptoms and may affect all body functions. Hypothyroidism can be a serious problem if left untreated so it is important that children with Down syndrome be tested at birth and then each year to insure that the thyroid is working correctly. Untreated, hypothyroidism can lead to slow growth, skin disorders, blood disorders, sleep problems, lethargy, learning problems, and feeding problems.

Hypotonia – lack of muscle tone. Hypotonia is a common clinical feature of Down syndrome.
Imperforate Anus – see anal atresia.

Inferior Vena Cava – the inferior vena cava is one of the two main veins bringing de-oxygenated blood from the body to the heart. Veins from the legs and lower torso feed into the inferior vena cava, which empties into the right atrium of the heart.
Karyotypes – an organized profile of a person’s chromosomes. In a karyotype, chromosomes are arranged and numbered by size, from largest to smallest. This arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder. The normal karyotype of the human female contains 23 pairs of homologous chromosomes: 22 pairs of autosomes and 1 pair of X chromosomes. The normal karyotype of the human male contains the same 22 pairs of autosomes, plus one X chromosome and one Y chromosome.
Left Atrium – one of four chambers (two atria and two ventricles) in the human heart. The left atrium receives oxygenated blood from the lungs through the pulmonary vein. As the contraction triggered by the sinoatrial node progresses through the atria, the blood passes through the mitral valve into the left ventricle.

Left Ventricle – one of four chambers (two atria and two ventricles) in the human heart. The left ventricle receives oxygenated blood as the left atrium contracts. When the left ventricle contracts, blood is pumped to the body.

Leukemia – a cancer of the blood or bone marrow characterized by an abnormal proliferation of blood cells, usually white blood cells (leukocytes). It is part of the broad group of diseases called hematological neoplasms. Leukemia is more common in people with Down syndrome than in the general population
Mitral Valve – the mitral valve separates the left atrium from the left ventricle. It opens to allow the oxygenated blood collected in the left atrium to flow into the left ventricle. It closes as the left ventricle contracts, preventing blood from returning to the left atrium; thereby, forcing it to exit to the body.

Mosaicism – a condition where an individual has two or more cell populations that differ in genetic makeup. This situation can affect any type of cell, including blood cells, gametes (egg and sperm cells), and skin.

Mosaic Down syndrome – an individual is said to have mosaic Down syndrome when their body is composed of a mixture of cells with and without an extra chromosome 21 (see mosaicism). Mosaic Down syndrome occurs when the initial zygote had three copies of chromosome 21, which normally would result in simple trisomy 21, but during the course of cell division one or more cell lines lost one of the chromosomes 21, or when the initial zygote had two chromosomes 21, but during the course of cell division one of them was duplicated.
Obstructive Sleep Apnea (OSA) – see Apnea.

Omphalocele – a defect in the abdominal wall allowing the intestine and other abdominal organs to protrude outside the abdomen. This defect must be repaired by surgery. Omphalocele and gastroschisis make up most of the major defects of the abdominal wall. Babies with Down syndrome appear to have a reduced risk for omphalocele.

Papillary Muscles – Small muscles within the heart that anchor the heart valves. The papillary muscles attach to the lower portion of the interior wall of the ventricles. They connect to the chordae tendineae, which attach to the tricuspid valve in the right ventricle and the mitral valve in the left ventricle. The contraction of the papillary muscles opens these valves. When the papillary muscles relax, the valves close.

Partial AV Canal – see Atrioventricular Septal Defect

Patent (Persistent) Ductus Arteriosus (PDA) – a congenital heart condition that exists when the ductus does not close. The ductus arteriosus is a passageway which normally is present in every baby until a few days after birth. It is a communication between the two major arteries coming out of the heart. When this passageway does not close, the too much blood is allowed to flow to the lungs.

Patent Foramen Ovale (PFO) – an opening between the two atria (upper chambers). Like the PDA, it is important during fetal life and closes after birth. Its purpose is to shunt blood from the right to the left atrium bypassing the not-yet-functioning fetal lungs.

Pulmonary Artery – the pulmonary artery is the vessel transporting de-oxygenated blood from the right ventricle to the lungs.

Pulmonary Atresia – see Pulmonary Valve Stenosis

Pulmonary Valve – the pulmonary valve separates the right ventricle from the pulmonary artery.

Pulmonary Vein – the pulmonary vein is the vessel transporting oxygen-rich blood from the lungs to the left atrium.

Pulmonary Valve Stenosis/ Pulmonic Stenosis (PS) – A narrowing of the outflow from the right ventricle of the heart to the lungs. De- oxygenated blood is pumped through the Pulmonary Valve to the lungs to pick up oxygen. Normally the Pulmonary Valve has three leaflets. If these leaflets are malformed, the valve may become narrowed (stenotic) or leaky (insufficient).

Pyloric Stenosis – a condition in which the muscular wall of the passage carrying food from the stomach to the small intestine is abnormally thick and the passage narrow, forcing food back out through the esophagus (vomiting). Symptoms other than vomiting include constipation, change in stools (smaller and fewer stools or stools that have mucus in them), failure to gain weight or weight loss, and lethargy. As the condition worsens, babies are at risk for developing fluid and salt abnormalities and becoming dehydrated. Pyloric stenosis is fairly common, as it affects about three out of 1,000 babies in the United States. It does not occur at an increased rate among babies with Down syndrome.
Right Atrium – one of four chambers (two atria and two ventricles) in the human heart, the right atrium receives de-oxygenated blood from the body through the superior vena cava (head and upper body) and inferior vena cava (legs and lower torso).

Right Ventricle – one of four chambers (two atria and two ventricles) in the human heart.The right ventricle receives de-oxygenated blood as the right atrium contracts.
Stenosis – narrowing of a duct, passage, or opening in the body (i.e. aortic valve stenosis – an abnormal narrowing of the aortic valve).

Strabismus – crossed or wandering eyes. It is normal for newborn babies to have eyes that cross or wander sometimes, especially when they are tired. However, if a child’s eyes cross or wander to the side after 3 months of age, he/she may have Strabismus. When the eye turn occurs all of the time, it is called constant strabismus. When the eye turn occurs only some of the time, it is called intermittent strabismus. With intermittent strabismus, the eye turn might be observed only occasionally, such as during stressful situations or when the person is ill.

Superior Vena Cava – the superior vena cava is one of the two main veins bringing de-oxygenated blood from the body to the heart. Veins from the head and upper body feed into the superior vena cava, which empties into the right atrium of the heart.
Tracheoesophageal Fistula (TE-Fistula) – a birth defect in which the trachea (or windpipe) is connected to the esophagus. The trachea carries air to the lungs. The esophagus carries food to the stomach. Sometimes during development, these two tubes do not separate completely, but remain connected by a short passage. A TE-fistula must be surgically repaired. TE-Fistula may be accompanied by esophageal atresia.

Tetralogy of Fallot (TOF) – may also be called TOF or TET. A heart defect with four key features:

1. VSD (a hole between the ventricles),
2. narrowing (stenosis) of or beneath the pulmonary valve which leads from the right ventricle to the lungs,
3. right ventricular hypertrophy (thickening of the wall of the right ventricle),
4. overriding aorta (the aorta is directly over the VSD and so it receives blood from both ventricles.)

Trisomy 21 – the presence of three chromosomes 21, also known as Down syndrome. We normally have 23 pairs of chromosomes, each chromosome containing many genes. During the formation of the egg or the sperm, one chromosome of each of the 23 pairs is transmitted to a woman�s eggs or a man�s sperm. In most cases of Trisomy 21, the chromosome 21 pair did not separate properly and both chromosomes were transmitted into the egg or sperm. When the egg or sperm with two copies of chromosome 21 is joined with the contribution from the other parent (either egg or sperm that contains one copy of chromosome 21), the embryo will have three copies of chromosome 21, instead of the normal two. This type of error (called a nondisjunction error) is the cause of Down syndrome in approximately 95% of all cases.

Tricuspid Valve – the tricuspid valve separates the right atrium from the right ventricle in the heart. It opens to allow the de-oxygenated blood collected in the right atrium to flow into the right ventricle. It closes as the right ventricle contracts, preventing blood from returning to the right atrium.
Ventricular Septal Defect (VSD) – an opening between the two ventricles, the lower chambers of the heart. There are several types of VSDs, notably, an “inlet” VSD is a type of partial AVSD.

Lenetix, Inc. recently announced the launch of an Institutional Review Board (IRB)-approved screening study of an improved first and second trimester non-invasive fetal diagnostic test to detect Down syndrome. The Lenetix PloidYX(TM) maternal blood test promises to be the most accurate and comprehensive test yet developed for the detection of fetal aneuploidies, the presence of extra chromosomes, which cause Down syndrome (T-21) and other chromosomal abnormalities.Risk assessment for Down syndrome is routinely offered to patients in the first and/or second trimester of pregnancy. These evaluations rely on indirect ultrasound and biochemical exams, which are of imperfect accuracy. Patients deemed “at risk” by these tests are generally referred for genetic counseling and amniocentesis or CVS, invasive testing procedures which are known to cause miscarriages. The Lenetix PloidYX technology directly interrogates the fetal chromosomal status non-invasively, detecting not only Down syndrome (Trisomy 21), but other aneuploidies such as Trisomy 13, 18, and deviations in the numbers of the sex chromosomes. The superior accuracy of the Lenetix test promises fewer false positives and will therefore greatly reduce the number of unnecessary invasive tests — and the fetal losses they can cause.”We take deep pride in the technology we have developed because it has the potential to impact the lives of millions of women and their unborn children,” said Lenetix president and CEO Leonard H. Kellner. “Patients and doctors are constantly required to weigh the importance of an invasive and possibly unneeded procedure against the possible harm it could cause, and we are confident that this current IRB assessment is the next step towards making that difficult decision unnecessary.”"Pregnant women and their physicians are clamoring for an improved, non- invasive prenatal test for Down syndrome because they fear the risks of amniocentesis,” said Steve Brown, M.D., Lenetix Medical Director. “Our test offers the promise of a comprehensive assessment of fetal aneuploidy in the first trimester using a maternal blood sample. It’s a higher-quality test that will protect the mother and fetus.”"I’m personally honored to be involved in this clinical trial, because I believe it will change Down syndrome testing forever,” said Jonathan Herman, M.D., a practicing obstetrician on Long Island. “No longer will I have to use indirect tests, like proteins from the baby and mom, to figure out who is at high risk. In the near future I will be able to test the chromosomes directly, and that’s very exciting.”
About the Lenetix PloidYX Test.The Lenetix PloidYX Test makes use of methylation differences between the fetal and maternal DNA that is found in maternal blood in order to achieve selective amplification of the fetal component. Following amplification, a microarray analysis makes it possible to determine the relative copy number of all the chromosomes. An increase/decrease in the relative copy number of chromosomes is indicative of trisomy or monosomy respectively.

Learning about the genetic health of an unborn child could soon be as simple as giving blood.A new prenatal test is slated to hit the market this summer that requires nothing more than a sample of a pregnant woman’s blood for doctors to analyze the DNA of her developing fetus.Current methods to collect fetal DNA, such as amniocentesis, involve an intrusion into the uterus that can trigger a miscarriage – a risk that makes many couples refuse the procedure. But after 30 years of effort, science appears to be on the cusp of delivering a safe, non-invasive test that can detect Down syndrome and other genetic conditions by capturing the minute bits of fetal DNA in a pregnant woman’s bloodstream.Yet as with most advances in reproductive medicine, the new technology is raising tricky social questions. While some see it as a better way to prepare parents and hospitals to care for newborns with special needs, others fear it smacks of eugenics as science makes it ever easier to reject a less-than-perfect baby.Sequenom Inc., a biotech firm based in San Diego, says it will begin selling the first non-invasive prenatal genetic test, pioneered at the University of Oxford, online in June. Meanwhile, researchers at Stanford University have developed a similar version they expect will be available within two years.Neither test has been tried in large patient studies to evaluate accuracy. But if the promising preliminary results hold up, experts say the tests, which can be performed early in pregnancy, will revolutionize the field.“This is a powerful technology,” said Doug Wilson, head of the genetics committee of the Society of Obstetrics and Gynaecology of Canada.“If it can be proven to be as accurate [as current diagnostic methods] it will become the new diagnostic gold standard.“If it can be done at 10 weeks, instead of 16 weeks, it will relieve the stresses of pregnancy early.”At the Canadian Down Syndrome Society, however, news of the technology coming to market has only added to stress levels.“People with Down syndrome are very concerned about the emergence of tests that aim to eliminate them from the world,” said the society’s executive director, Krista Flint.“Down syndrome is a bellwether – if this is an easy test, it is just a matter of time before it’s used to determine other things, and sometimes just because we can do something doesn’t mean we ought to.”Scientists have long searched to find a non-invasive way to gather fetal cells from a pregnant woman’s blood. But the rare few that exist have been shed off the placenta, and are on their way to dying, Dr. Wilson explained. Adrift in the woman’s blood, they burst.Then in 1997, scientists Dennis Lo and James Wainscoat, at the University of Oxford, pioneered a technique to pick up the fetal genetic material that lingers in a woman’s bloodstream even after the fetal cells have died off.Sequenom licensed the Oxford technology in 2005 and says it will likely sell the test for roughly $700 (U.S.).
Tests to determine the sex of a fetus, screen for Down syndrome and chromosomal abnormalities known as trisomies 13 and 18 will be the first on offer.But CEO Harry Stylli said the company plans to develop screening tests for a range of other disorders, such as cystic fibrosis, sickle cell anemia and Tay-Sachs disease.Yet even before the completion of large trials for Down syndrome, the company has been fielding calls from women across North America anxious to try the new screening test, he said.“This [type of non-invasive test] has been viewed as the Holy Grail of testing,” Mr. Stylli said. “This is just a safer, more precise test. It is going to save women a great deal of anxiety.”Supriya James, a 41-year-old Toronto woman 19 weeks pregnant with her second child, knows all about the anxiety. Given her age, Ms. James realizes her chances of carrying a child with a genetic abnormality are high – “one in 65 for Down syndrome, one in 43 for any chromosomal abnormality,” she said, quoting statistics from a prenatal screening brochure.But the current screening process to identify women carrying a child with Down syndrome or another genetic condition can be faulty and stretch into the fourth month of pregnancy.“It’s daunting enough to get pregnant beyond 40, naturally,” Ms. James said. “But it’s hard to celebrate it fully because of this incredibly long and arduous road of genetic testing that lies ahead of you.”The standard noninvasive prenatal tests include a series of ultrasounds and blood tests that together aim to identify women at high risk of having a baby with genetic disorders or birth defects.Women who receive a positive screening result are then referred on to an amniocentesis some time between 16 to 19 weeks into their pregnancies.The procedure entails a doctor inserting a long needle directly into the uterus to extract amniotic fluid and the fetal cells and DNA it contains. Amnio results are considered more than 99-per-cent definitive, but the procedure carries a miscarriage risk that ranges from one in 200 to one in 1,000.The other diagnostic test, chorionic villus sampling, involves the invasive collection of fetal cells from the placenta. While CVS can be performed earlier in the pregnancy, it also carries a slightly higher miscarriage risk than amnio.It was these risks that prompted Ms. James and her husband Brett James to refuse the amnio when they had their daughter Veda in 2003, and why – after recently receiving very encouraging screening results – they decided to skip the procedure again.“I’ve had three previous miscarriages and the idea of an amnio absolutely terrified me,” Ms. James said.“It’s only after getting that [screening] result back that I’m finally in a relaxed state and can celebrate this pregnancy … but it was 18 weeks in.”
The prospect of a simple blood test that could be performed early in a pregnancy “will be warmly welcomed by all pregnant women,” Ms. James predicted.“It would spare so much mental anguish.”Some experts feel the new tests will only be a significant advance if they prove to be as accurate as amniocentesis.But others believe they will be a major step forward if they can improve the considerable rate of false positives and negatives in the pre-amnio screening process.Dr. Wilson of the obstetrics society noted that even the best current screening methods result in a number of women being told they are carrying a baby with Down syndrome when they are not.“You could have 10 to 15 women who screen positive, but only one of them will be a true positive,” said Dr. Wilson, also head of obstetrics and gynecology at the University of Calgary and Foothills Hospital.Sequenom has so far tried its test in 399 pregnant women and found it has an accuracy rate of 99.1 per cent, a figure “comparable to amniocentesis,” Mr. Stylli said.Yet in the course of conducting their research, they found that 136 of those 399 women had received positive, high-risk screening results and were recommended to have an amnio or CVS.But only six of those 136 women actually had a child with Down syndrome, Mr. Stylli said. Meanwhile, two per cent of women who screen positive choose to terminate their pregnancies without an amnio.“It’s scary actually,” he said of the current technology. “Is losing even 2 to 2.5 per cent of babies you look at [through amnio] acceptable?”The Stanford group, which published its results with a non-invasive prenatal test last fall, found no false positives or negatives in a study of 18 patients.Mr. Stylli admits Sequenom needs results from much larger trials before it can be considered a diagnostic test and says the company will restrict its claims as it begins selling the procedure.
But he added that trials are under way with more than 800 patients, with plans to publish the results in a peer-reviewed journal later this year.Jon Barrett, chief of maternal fetal medicine at Toronto’s Sunnybrook Hospital, cautioned that the company is still in its research phase, raising the question, “are people being sold a technology that’s not quite ready yet?”The company could use its early customers as part of its patient trials, but then, he said, they should not be charging for the test.Mr. Stylli said only doctors will be able to order the test, sending blood samples from their pregnant patients to a Michigan lab where the procedure will be performed and the results returned by mail.It is the online, mail-order process that has the Canadian Down Syndrome Society particularly worried about the new tests.While the CDSS believes families should be entitled to the best prenatal information and make their own decisions, Ms. Flint said the prime concern is that results from these new tests will come without any insights offered as to “the rich and rewarding lives of citizens with Down syndrome.”Just last year, the obstetrics society recommended that every pregnant woman in Canada be offered prenatal genetic screening regardless of age and, since then, the Down Syndrome Society has been working to ensure doctors and health-care professionals dispense the screening results with balanced information.“Prospective parents tend to be told negative things … like ‘this child will ruin your life … it will be hard on your life, hard on your kids, ruin your marriage.…’“You don’t hear about those who enrich the lives of others, who go to school, get married, get jobs,” said Ms. Flint, who, along with other advocacy groups, has been in talks with Sequenom.U.S. statistics suggest that 80 to 95 per cent of women who receive an early prenatal diagnosis of Down syndrome choose to end their pregnancies, she noted. In Canada, the number cannot be tracked due to privacy regulations.Renate Lindeman of Nova Scotia, an activist mother of two daughters with Down syndrome, says Down syndrome birth rates are already falling.
“This is just the result of doing ultrasound screening,” Ms. Lindeman said. “I am not opposed to prenatal screening and I am pro-choice … but as time goes by it will get easier and cheaper to screen for Down syndrome and other things … and there is a view that Down syndrome in particular will be a thing of the past.”

So I was reading and I found this article and I really don’t think it is the least bit funny and I don’t know if they are trying to come off that way but if they are I really don’t find it a bit funny at all. It says.Alaska Governor Sarah Palin’s Press Secretary Meghan Stapleton has issued a press release which comes close to explaining the former Vice Presidential candidate’s often puzzling comments and behavior.

It seems Palin’s vagina has been diagnosed with a rare form of Down Syndrome which afflicts the vagina. “This condition was most likely passed on to her son Trig in utero.” Wasilla gynecologist Dr. Peggy A. Downing told reporters, “It is also quite likely that this condition has migrated in some form to her brain. It does not appear that her brain condition has full blown Down Syndrome. Judging by her actions, I would say it is a form that simplifies complex matters into talking points and recoils at the appearance of anything fact based or logical.”

Consulted for more information, neurologist Dr. Jeffrey L. Sponsler performed a Catscan and confirmed Dr. Brownings’s findings, adding “The condition has also spread to the part of the brain that has sympathy for innocent animals.”

After several requests for comments, Governor Palin told reporters that all of this was nonsense and accused them of “pallin’ around with the vagina and doctory elite.”

Individuals with trisomy 21 display complex phenotypes with differing degrees of severity. Numerous reliable methods have been established to diagnose the initial trisomy in these patients, but the identification and characterization of the genetic basis of the phenotypic variation in individuals with trisomy remains challenging. To date, methods that can accurately determine genotypes in trisomic DNA samples are expensive, require specialized equipment and complicated analyses. Here we report proof-of-concept results for an Invader® assay-based genotyping procedure that can determine SNP genotypes in trisomic genomic DNA samples in a simple and cost-effective manner. The procedure requires only two experimental steps: a real-time measurement of the fluorescent Invader® signal and analysis with a specifically designed clustering algorithm. The approach was tested using genomic DNA samples from 23 individuals with trisomy 21, and results were compared to genotypes previously determined with pyrosequencing. Additional assays for 15 SNPs were tested in a set of 21 DNA samples to assess assay performance. Our method successfully identified the correct SNP genotypes for the trisomic genomic DNA samples tested, and thus provides an alternative to determine SNP genotypes in trisomic DNA samples for subsequent association studies in patients with Down syndrome and other trisomies.