Ammar Acik and Family
My sister left for Canada on Friday 29th of August 2008. She is pursuing a degree in BioMedical Engineering at Carleton University Ottawa. We are going miss her but all of us are very happy for her. Good luck acik. Dont cry ha when breaking fast there. Bye
Impetus to develop complete description of syndrome driven by parents’ frustration over lack of information
(SACRAMENTO, Calif.) — Researchers at the UC Davis M.I.N.D. Institute and The Children’s Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two “X” and two “Y” chromosomes, rather than the normal one of each. The study, published in the June 15, 2008, issue of the American Journal of Medical Genetics Part A, also offers treatment recommendations for men and boys with the disorder.
“We found that there are a variety of behaviors, learning disabilities and emotional problems that are unique to patients with XXYY syndrome that may be better addressed with more targeted therapies,” said Randi Hagerman, medical director of the M.I.N.D. Institute and senior author of the study. “Our research is important because it provides an accurate picture of what patients are experiencing that can help physicians who treat patients with the disorder.”
XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. Boys with XXYY syndrome usually come to the attention of physicians because of unique facial features, developmental delays, late puberty and behavioral problems. It was once thought to be a variant of Klinefelter syndrome, in which males have one extra X chromosome. While the two disorders are similar in some ways, clinicians have become increasingly aware that they are distinct in some significant ways. The current study set out to identify the unique features of patients with XXYY for the purposes of informing the medical community and improving treatment approaches.
“Until now, physicians have had to search the medical literature to patch together a treatment plan mostly based on information on Klinefelter syndrome,” said Nicole Tartaglia, an assistant professor of pediatrics at the University of Colorado Denver School of Medicine who was a fellow at the M.I.N.D. Institute when the study was conducted. “As a result, people with XXYY weren’t being screened for the specific medical problems associated with their disorder. They weren’t receiving therapies or medications for the behavioral and neurodevelopmental issues that are more profound for them. And they weren’t receiving the types of community services that can help them live independent lives. Our research is an important resource for families and practitioners.”
For the current study, Tartaglia and Hagerman examined 95 males with XXYY syndrome between the ages of one and 55 years of age. Among their medical findings were that 19.4 percent had cardiac abnormalities such as congenital heart defects and mitral valve prolapse, 87.6 percent had dental problems such as severe dental caries and malocclusion, 15 percent had seizures and 59.8 percent had asthma or other respiratory issues. Intention tremor became more common with age and was present in 71 percent of study participants over 20 years old. 45.7 percent who underwent brain MRIs showed abnormal white matter that may explain some learning difficulties.
Psychologically, the researchers found that 72.2 percent had attention-deficit/hyperactivity disorder and up to 28.3 percent had autism spectrum disorders. In the previous literature, mental retardation was the norm. This study, however, found that only 29.1 percent had IQ scores within the mental retardation range. Learning disabilities were the more common cognitive impairments, affecting 70.9 percent of study participants.
“Life skills are more of a struggle for these males, and they may need different medications, a broader array of behavioral therapies and more intensive community support than those with Klinefelter syndrome,” Tartaglia said.
Lack of comprehensive information about the syndrome is what drove the current study. For years, parents of boys with XXYY syndrome supported each other over the Internet, sharing stories of heartbreak and frustration. While their sons suffered everything from heart defects to learning disabilities, they could only point doctors and teachers to a 1960s scientific paper that first identified the condition along with a few outdated notes on its outcomes.
“We knew we needed a more complete description,” said Renee Beauregard, of Aurora, Col., whose 26-year-old son, Kyle, was diagnosed with XXYY syndrome at age 10. “We were tired of having our families running around the country looking for answers from people who didn’t have them,” said Beauregard, who is also a co-author on the study.
In 2003, Beauregard and other parents turned their frustration into advocacy and established the XXYY Project to support families.
“The more we talked, the more we realized our boys had things in common that were not addressed in the literature,” said Beauregard, the project’s director. “We had to do something.”
The parents had their children take part in the study, and they flew Tartaglia to the United Kingdom so that she could include XXYY boys living there in the research as well.
Now, with more concrete answers, parents like Beauregard and children like Kyle can find some peace of mind.
“Kyle knows that people don’t understand XXYY and therefore don’t understand him as a person, she said. “The study helps the world know why he is like he is. It validates what he knows about himself and what we know about him. When he can’t follow directions, it’s not because he’s stupid.”
Other co-authors of “A New Look at XXYY Syndrome: Medical and Psychological Features” were Shanlee Davis, Alison Hench, Sheela Nimishakavi and Robin Hansen, all of the M.I.N.D. Institute; Lindsey Albrecht of UC Davis Children’s Hospital; Ann Reynolds and Laura Fenton of the University of Colorado Denver; Judith Ross of Thomas Jefferson University in Philadelphia; and Jeannie Visootsak of Emory University.
Funding for the study was provided by the Bonfils-Stanton Foundation, UC Davis M.I.N.D. Institute, The XXYY Project and a Loan Repayment Program grant to Tartaglia from the National Institutes of Health.
Ammar Our Special Child
Help me, God, to embrace my child as he is. Teach me how to raise him in love and joy and confidence. Show me how to help him realize all the gifts you have placed in him. Prevent me from pressuring him to
become what he can never be or does not want to be. When I find myself mourning for what he is not, open my eyes to the holy blessing that he is. When feelings of jealousy surface towards other parents, soften my heart, open my soul. When my patience wears thin, calm me with Your comforting presence. When I feel as if I have no more to give, be my strength, God, abiding and unending. When I hover over my child too closely, remind me to step back and make room for him to fly. If he should fail, teach me how to encourage him to try again.
When others are cruel to him, place words of wisdom and comfort on my tongue and place fortitude in his heart. Help him, God. Watch over him. Protect him from harm. Shield him from frustration and hurt.
Fill him with Pride, God. Teach him to stand up for himself. Grant him good health. Bless him with true and enduring friends. Nurture his awesome potential, God; let it flourish and become manifest.
Let him be happy, God. Surround him with Your Love. I thank You, God, for giving me this very child. He is a gift from God, a precious child, a rare soul, a miracle. He is mine.
Ameen
Baskin Robbin at East Cost Mall Kuantan
Over the last weekend (19-20 July) I visited my brother Ahmad in Kuantan. He was dissapointed not being appointed as the Badan Perwakilan Pelajar (Student Body) as the Deputy President but just an exco for Media Relations. We stayed at Strawberry Kijal. Nice place but totally run down. Not worth the money with bare facilities. Wish the state govt can improve the facilities to attract tourist. During the day we spend time at the East Cost Mall and Mega Mall in Kuantan. My mom bought me the Hari Raya clothes plus water gun for my birthday. At ECM we had ice cream at Baskin Robbins while waiting for Ahmad to have our lunch in Teluk Cempedak. Nice break for me, my two sisters soon be flying overseas and the others. Adon (my eldest brother) cant make it since he has classes on Saturday. There were two major accidents along Karak highway on the way back due to heavy rain. Luckily we reach home safe and sound.
this is my homework for this week’s show and tell. the topic is healthy food.i did this after the visit to ahmad(my brother)’s place in kuantan.ummi said my work is not very impressive. i hope to improve in the future.pray the best for me!
Me and Adam in Danau Toba
16th July 2008 will be my 9th birthday. During my first year of life my parents were worried how long will I survive. With the grace of God Al-Mighty Allah I am 9 years old now. Happy and kicking alive. May I get to see the world free of war and all the bad things. I hope I can read better and learn more difficult sentences rather than just the Ladybird Peter and Jane. I thank my mom Dr Nik Nazli Nik Ahmad for her patience with me. I know I can be difficult not sometime but most of the time. I am your special child.
The Melbourne five-year-old suffers from a condition so rare it is yet to be named – and now he is helping scientists save others from the same fate. Travis’s case has baffled doctors, who initially were unable to explain his autistic-like symptoms. His mother, Michelle, said her son, who also cannot walk, talk or eat without assistance, “has had every test known to man”. Experts now believe a single and unidentified gene – carried only by female family members and only affecting males – is responsible.
Geneticist Tiong Tan said the Holdsworths were the only known carriers of the gene in the world. “I have presented Travis’s case nationally and internationally, and no other geneticist has said they’ve seen a family with this,” he said.
Dr Tan and interstate colleagues are trying to isolate the mysterious gene causing Travis’s condition. He said finding the gene, on the X chromosome, was like finding a single house on a map of the world. “We have narrowed it down to the suburb, but within that suburb there are lots of streets and lots of houses,” said Dr Tan, of Murdoch Children’s Research Institute. Travis and his relations will be crucial in solving the medical mystery. Two cousins, both male and from his mother’s side of the family, died of the same condition at age 10. In an effort to prevent more children being born with Travis’s condition, DNA from 12 family members has been collected and stored.
All samples will be tested when the defective gene is identified, revealing the carriers. “By looking at the family and who’s affected and how they are connected, it’s very likely that (Travis’s condition) is being caused by just one gene on the X chromosome,” Dr Tan said.
“Females carry the gene, but it’s boys who are affected because they only have one X chromosome. Females have two, so they have a backup copy (cancelling out the faulty version).” Mrs Holdsworth said her family could make medical history. “We have been told the gene could be named after our family when they find it,” she said.
“But I don’t care about that — the point is we may be able to help other people.” But nothing has stopped Travis. “Despite what he has gone through, he is just such a happy and calm and brave boy. We all love him so much,” Mrs Holdsworth said.
HeraldSun Australia
http://www.news.com.au/heraldsun/story/0,21985,23974248-2862,00.html
CADS Enhancement Center
Today we receive a shocking and sad news for the center. We are being asked by the new owner of the center to vacate the premise by 8th of August 2008. In the midst of preparing options of moving to Keramat, Setiawangsa or Jalan Ledang we are now being force to think out of the box of how to ensure we have a roof for the center for the next few months. May Allah grant us our wish of having our own center soonest possible. We hope the new owner would be nice enough to grant us a window for us to prepare the center to be move elsewhere. Ya Allah please protect your special chid.
This is my homework for show and tell.
Every week, my friends and I will be given a topic to show and tell everyone about during Monday’s assembly.My sister, Atiqah always helps me to prepare. Today, I am going to suggest Taman Tasik Perdana as the place for CADS Enhancement Centre Family Day.
Wish me luck!
CEC family day
Taman Tasik Perdana.It is a beautiful garden with lots of trees and flowers.It has a huge playground.I have been there with my family.
Atiqah is my other elder sister. Alhamdulillah today she got a happy news – She has been accepted to Carleton University in Ontario Canada. I always fight with her, but I do know that she loves me. She is also like me TAK SUKA MANDI does not like to bathe. So I assume once she reach Canada it is a dream – she does not have to bathe everyday. Maybe once every week. BUSUKNYEEEEEE.
This is Atiqah and Peeeeeepah my rival younger sister. She is cute but naughty. Hopefully she wont be cry baby when she gets to Canada. I will miss my two sisters this fall one in UK and one in Canada.
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