Downsyndrome.com

It sounds silly, but numbers are like friends to me. In my mind, every number to 10,000 has its own shape, colour and personality. My favourite is four, which is very shy. It reminds me of myself. I have savant syndrome, a form of Asperger’s. When I multiply numbers, I see one shape on the right side of my mind and one on the left. In the middle, there is a space where the new shape appears. I recognise it, and that’s the answer.

But I find it hard to relate to people’s emotions, to what others are feeling. I can’t drive a car down the street or shop in a supermarket because I notice too many details. There are too many products, too much noise, too many colours. And too many numbers. It is sensory overload. I found it really hard to brush my teeth too, until I started using an electric toothbrush. That’s better because it is more rhythmic.

When I was about eight, I suddenly got the urge to write stream after stream of descriptions, of what Iwas seeing in my mind, of caves and caverns and streams. I realised all these landscapes were made up of the numbers I was seeing. It was an extremely liberating experience. From then I had a fascination with words and language too.

I find certain words very special. I like the word “teapot”, because of the symmetry of the Ts. And the word “polio” is beautiful to me, with the letter L standing above the others. I can speak 10 languages. Learning a language is a fairly natural process for me. I make associations between words and what they mean. I don’t study grammar tables or learn verb endings, I just try to speak the language and listen to others as much as possible for the correct pronunciations. I learnt to speak Icelandic in a week. I find it a beautiful language, the way the words are formed and their shapes are very picturesque.

I also memorised pi to 22,514 decimal places. It was a challenge to find that many numbers, but we finally got a list from a super computer in Japan. Each day, I would take a sheet of numbers and remember them. I gorged myself’ it was very pleasurable. To me, pi is very beautiful, an undulating, wonderful landscape.

Meeting my partner was when my life came together, my eureka moment. I read a book once of a prince who fell in love, and described it as seeing just one face in a sea of millions. I remember we had been shopping but I’d lost Neil in the crowds. I was getting worried and overwhelmed. And then I saw his face. Out of all the people and the noise and the lights, his was the face which stood out. And in that moment I felt so happy.

Name Daniel Tammet

Age 27

History Tammet is a rare autistic savant because he can explain his thought processes. His book, ‘Born on a Blue Day’ (Hodder & Stoughton, pounds 16.99) is out now

Copyright 2006 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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PALO ALTO, Calif. — Lucile Packard Children’s Hospital is proud to announce the opening of its new Down Syndrome Clinic. This comprehensive, multidisciplinary clinic, the only one of its kind on the West Coast, combines convenience with peace of mind for parents of children with Down syndrome by providing a single site for the evaluation and individualized care of their child.

"The clinic is a kind of command center," said clinic director Gene Hoyme, MD, "assessing the need for specialized medical, genetic, developmental, psychological testing, and therapy services and making appropriate referrals as indicated. The clinic’s dedicated professionals will interact with each child’s primary care physician and the educational system to provide a coordinated approach to care for each child." Hoyme, a medical geneticist, is Chief of Genetics Services at Packard Children’s. Heidi Feldman, MD, the newly appointed Director of the Mary L. Johnson Developmental and Behavioral Assessment Unit, will be actively involved in patient care as well.

"These children have special health care needs that are best addressed by a team of physicians, nurses, therapists and other clinicians familiar with both the child and his or her past medical history," said William Mobley, MD, PhD, who directs Packard Children’s Brain and Behavior Center. "This type of focused, individual attention is necessary to fully address the unique range of medical issues that can occur in children with the condition."

"I postponed a couple of doctor visits because I knew the clinic would be opening," said Patty O’Brien White, whose seven-year-old, Amy, has Down syndrome. Amy needs regular appointments with eye specialists and audiologists, in addition to regular check-ups. She was also being seen by a GI specialist for a while. White, who founded the Down Syndrome Research and Treatment Foundation, also pointed out another advantage of the clinic. "Amy was my pediatrician’s only patient with Down syndrome," she said. "In contrast, the specialists at Packard’s clinic have treated hundreds of children like her. By taking Amy to the Down syndrome clinic I can be sure that she’s being treated by a team of highly experienced people."

The clinic is expected to draw patients from across California for developmental assessments and medical exams tailored to the specific health challenges associated with Down syndrome. Specialists in the clinic view their role not only as providing specialized medical and therapy services, but also educating families and referring physicians about the special needs of children with Down syndrome and advocating for children and their families in the larger community.

Hoyme and Mobley expect that clinic patients will likely have access to any clinical trials or new treatments that may arise during the coming years. For example, scientists at the Down Syndrome Research Center recently identified a protein responsible for some of the cognitive difficulties faced by Down syndrome patients. "There is a huge need for new treatments for these children," said Mobley. "Right now there is nothing other than supportive care for these folks. We’re cautiously optimistic that what we’re learning now may one day lead to clinical trials." Coupled with the depth and quality of research conducted at Packard Children’s and Stanford, the clinic is arguably one of the most advanced places in the world devoted to treating children with Down Syndrome.

COPYRIGHT 2006 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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A study examining the survival of 645 infants with Down syndrome in the Atlanta area found an increase in survival rates between 1979 and 1998. Nearly 93 percent of infants with Down syndrome now live to one year, and nearly 90 percent survive for 10 years, the study showed. Racial disparities persisted, however: blacks with Down syndrome are more than seven times as likely as whites with the condition to die by age 20 years.

The findings that children with Down syndrome are living longer indicate that appropriate medical, residential, social, and community services must be made available for adults with Down syndrome, said Dr. Jose Cordero, director of the Centers for Disease Control and Prevention’s (CDC’s) National Center on Birth Defects and Developmental Disabilities. The CDC is conducting a similar study in other states to see whether the findings are comparable. Results from the study were published in the June 2006 issue of the Journal of Pediatrics. For more information, go to http://www.cdc.gov/od/oc/media/pressrel/r060630.htm.

COPYRIGHT 2006 American Academy of Family Physicians
COPYRIGHT 2008 Gale, Cengage Learning

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A movement program employing Laban’s concepts of time, space, weight, and flow works wonders for children with Down syndrome.

Down syndrome (DS) is the most frequently occurring chromosomal abnormality. It results from the presence of an extra partial or complete 21st chromosome. This increase in genetic material disrupts all aspects of an individual’s physical, mental, and social development. While the specific sensory and perceptual-motor impairments associated with DS have been well reported, less is known about how best to structure the environment and tailor programs that can …

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Antidepressant discontinuation syndrome occurs in approximately 20 percent of patients after abrupt discontinuation of an antidepressant medication that was taken for at least six weeks. Typical symptoms of antidepressant discontinuation syndrome include flu-like symptoms, insomnia, nausea, imbalance, sensory disturbances, and hyperarousal. These symptoms usually are mild, last one to two weeks, and are rapidly extinguished with reinstitution of antidepressant medication. Antidepressant discontinuation syndrome is more likely with a longer duration of treatment and a shorter half-life of the treatment drug. A high index of suspicion should be maintained for the emergence of discontinuation symptoms, which should prompt close questioning regarding accidental or purposeful self-discontinuation of medication. Before antidepressants are prescribed, patient education should include warnings about the potential problems associated with abrupt discontinuation. Education about this common and likely underrecognized clinical phenomenon will help prevent future episodes and minimize the risk of misdiagnosis.

Interruption of treatment with an antidepressant medication is sometimes associated with an antidepressant discontinuation syndrome; in early reports it was referred to as a "withdrawal reaction." (1) Symptoms of antidepressant discontinuation syndrome can include flu-like symptoms, insomnia, nausea, imbalance, sensory disturbances, and hyperarousal. All approved antidepressant agents have had case reports or warnings from their manufacturers of such reactions occurring in response to either abrupt discontinuation or medication tapering. (2) These medications include selective serotonin reuptake inhibitors (SSRIs), (3) tricyclic antidepressants, (4) monoamine oxidase inhibitors (MAOIs), (5) and atypical agents such as venlafaxine (Effexor), (6) mirtazapine (Remeron), (7) trazodone (Desyrel), (8) and duloxetine (Cymbalta). (9)

The importance of understanding and recognizing antidepressant discontinuation syndrome is threefold: (1) though typically mild, antidepressant discontinuation syndrome symptoms are associated with significant discomfort, work absenteeism, other psychosocial problems, and may on rare occasions be severe enough to require hospitalization (10-12); (2) failure to recognize antidepressant discontinuation syndrome may result in medical and psychiatric misdiagnosis, potentially exposing patients to unnecessary diagnostic investigations or potentially risky medical interventions; (3) patients may be unwilling to use psychotropic medications in the future, thereby increasing their vulnerability to future relapses of depressive or anxiety disorders.

Pathophysiology

Although several hypotheses exist, the definitive pathophysiologic explanation for antidepressant discontinuation syndrome remains unknown. Early reports of antidepressant discontinuation syndrome made heavy use of the term "withdrawal" to describe discontinuation symptoms; however, antidepressant medications are not believed to be habit forming and are not associated with drug-seeking behavior. (13) Long-term use of SSRIs increases synaptic levels of serotonin through blockade of the serotonin reuptake pump, resulting in down-regulation of postsynaptic receptors. (14)

There is speculation concerning the possibility of a temporary deficiency of synaptic serotonin with abrupt withdrawal of an SSRI. (15) This deficiency is compounded by the fact that down-regulated receptors will remain in their relatively hypoactive state for days to weeks.15 This is believed to result in antidepressant discontinuation syndrome directly or indirectly via downstream effects on other neurotransmitter systems (e.g., norepinephrine, dopamine, and [gamma]-aminobutyric acid) implicated in depressive and anxiety disorders. (15)

Because tricyclic antidepressants and MAOIs also are serotonergically active, the same mechanism is implicated for their respective antidepressant discontinuation syndromes; however, tricyclic antidepressants also affect the cholinergic system, so rapid discontinuation may cause signs of parkinsonism and problems with balance. Because MAOIs cause changes in the alpha2-adrenergic and dopaminergic receptors, their discontinuation may cause agitation and psychosis.

Epidemiology and Risk Factors

Because of the varied clinical presentation, transient nature, and lack of pathognomonic clinical features, there are relatively few data on incidence, prevalence, and other estimates of burden associated with antidepressant discontinuation syndrome. One observational study (16) found that four of 45 patients (9 percent) given fluoxetine (Prozac) and 26 of 52 patients (50 percent) given paroxetine (Paxil) reported discontinuation symptoms, with a mean onset of two days and mean duration of five days. A randomized controlled trial17 (RCT) comparing three SSRIs found a lower incidence of antidepressant discontinuation syndrome with fluoxetine (14 percent) than with paroxetine (66 percent) or sertraline (Zoloft) (60 percent). This study was limited by its open-label design and was sponsored by the manufacturer of fluoxetine. In addition, a retrospective chart review (13) of 350 patients using SSRIs showed no significant added risk associated with age, sex, or diagnosis.

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