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Jacobsen syndrome

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Summary

Jacobsen Syndrome, also known as 11q deletion, is a congenital disorder that occurs due to a partial deletion of the terminal band on chromosome 11.

Physical Characteristics

  • Closely-set eyes caused by trigonocephaly
  • Folding of the skin near the eye (epicanthus)
  • Short, upturned nose (anteverted nostrils)
  • Thin lips that curve inward
  • Displaced receding chin (retrognathia)
  • Low-set, misshapen ears
  • Permanent upward curvature of the pinkie and ring fingers (bilateral camptodactyly)
  • Hammer Toes

In addition, patients tend to be shorter than average and have poor psychomotor skills.

Outlook

Patients with this disorder tend to live out normal lives within the limitations of their disability (varies from person to person), though congenital heart disease that does not manifest itself until adulthood is common. There is a greater incidence of various forms of cancer among 11q- people. The vast majority of them have a bleeding disorder called Paris-Trousseau Syndrome, where they have reduced platelets and the platelets don't function as well. The number of platelets increases during childhood until it is at normal levels, but they still have poor clotting due to abnormal platelet function. Unless their platelet function has been tested and shown to be normal, they should be assumed to have a bleeding disorder.

Sources

National Center for Biotechnology Information

11q.org - Note: PDF file

Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine

Read more at Wikipedia.org


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An emerging strategy for high cost claims: Worksite consultations—which can reveal barriers to return to work and remedies that would otherwise be
From Risk & Insurance, 11/1/02 by Michael Grasso

Reports from workers' compensation claims handlers are pointing to a strategic change in resolving cumulative trauma injuries. These injuries include many back and most shoulder, hand and wrist conditions. Less than a fifth of all injuries, they can account for more than half of total claims costs. Safety advances have cut the number of injuries over the past 20 years, but expensive claims continue to occur in large numbers.

A strategic innovation now is aggressive use of low cost, individualized worksite consultations of these injuries. Behind this innovation is a fundamental change in thinking about how to resolve and prevent these cumulative trauma (also known as repetitive strain) injuries. According to Ray Jacobsen, CEO of American Workers Assurance, a division of AP Capital, "the greatest opportunities are in reducing the incidence and duration of disability of cumulative trauma disorders."

These injuries average more than $25,000 in cost. A large share extend beyond several months and metastasize into chronic pain syndrome. They often end in loss of employment.

It is not difficult to identify high exposure claims that deserve a worksite visit by a trained professional with strong problem-solving skills. She or he will collaborate closely with worksite personnel, including the injured worker, to set straight the causes of injury, barriers to recovery and specific remedies. Insurers have ordered these visits, and researchers have studied them. Our analysis suggests for these chosen claims, they will save on average $15,000 per claim. Savings in lost time is incalculable because many of these injuries end in the disappearance of the worker after a claims settlement into disability retirement other lines of work

Two facts frame the case for these worksite visits. When trained professionals do them, they commonly discover barriers to return to work and remedies that would otherwise be overlooked. These discoveries all too often correct misperceptions in medical and claims records.

Claims budgets are paying for these field consultations. They have practical benefits for not just claims handlers, but also insurer loss control staffs, treating doctors, and worksite personnel. The diversity of stakeholders is both a tantalizing feature and a complication, as it has not been easy to craft reports that bolt their findings into the agendas of all the customers.

Cliff Parent, VP claims for Beacon Mutual Insurance Co., sees several benefits. Parent says the data his staff obtains helps to focus rehab spending and reduce reinjury. He also uses the findings to, he says "controvert claims in which the injury being claimed would be unlikely due to the activities associated with claimant's job."

Return on investment to the direct payer--the claims handlers--appears to be alone adequate to justify the venture. When one conjectures, cautiously, all the benefits to all customers, these consultations come across as extremely attractive.

What exactly are these worksite consultations? Who does them and how are their findings put to use? If they appear so attractive, why are they not used more widely? At the present time, less than 10 percent of lost time soft tissue injuries in the United States are likely to receive this type of intervention. Their quality, hence practical value, is very inconsistent. For example, there is often excessive reliance on digital photography--on that problem, more later.

Step back in time to when cumulative trauma injuries became prominent. They appeared as early as the 19th century, before the modem workers' compensation systems came into being. British railway workers used to complain of "railway backs" caused purportedly by vibrations of moving trains. But they surfaced in earnest in the 1980s, in various forms in the United States, Canada, and Australia.

A myriad of professionals from various disciplines-physiatrists, physical and occupational therapists, kinethesiologsts, and ergonomists--were on hand in the 1980s to analyze cause and remedy of these types of injuries. Researchers conducted hundreds of federally funded studies to better understand them.

A pioneer from the 1980s is Susan Isernhagen of Isernhagen Work Systems, Duluth Minn. She recalls, "We were active then in developing functional capacity evaluations. The idea was to measure the functional ability of a worker to return to work, by closely observing lifting, carrying, gripping, climbing, and other tasks needed on the job. But our outcome studies showed employees were often at risk of reinjury. It was necessary to follow up after return to work to evaluate causative factors of the initial injury in order to reduce them. This lead to broader opportunities for injury prevention in the entire work force. This is the science behind worksite interventions of today."

Over time, a handful of findings gained widespread if not universal acceptance:

* Repetition at work can induce an impairment, but may not be culprit behind any injury.

* If one culprit can be found, likely there are several. That also goes for remedies.

* Many workers are unaware of risks from their own work styles.

* Workers and supervisors often err in describing cumulative trauma injuries.

* The injured worker is a valued member of the investigative effort.

These findings, we believe, never made their way into the conventional wisdom of injury management. The surge of innovation in injury management took place in response to the hard market for workers' compensation around 1990. Medical management of injuries expanded, as did worksite safety. The two innovative thrusts did not connect. It is remarkable how even today doctors and claims adjusters handle most cumulative trauma injuries without any solid evidence of what happened and what risks await the returning worker upon return.

The Knowledge Gap

Glenn Pransky, MD, director of the Liberty Mutual Center on Disability Research, says that "the average physician who treats work-related problems has had less than four hours of education in his or her career on work-related conditions and no training on handling return-to-work issues. Few have ever toured a factory, read an article about ergonomics, or have an interest in reducing worksite risks."

In the 1990s, several professional teams working independently began to close the knowledge gap. Windham Group, for example, began to pilot worksite consultations for New England based insurers in 1996, and has so far completed about 1,500. (See table on page 34 for an overview.) Beacon Mutual Insurance Company, of Rhode Island, launched a program in 1998. Liberty Mutual disability researchers and others have undertaken innovations in this line.

What's "inside the box"? Typically, a trained professional collects and analyzes data and consults with the injured worker and supervisor. More than just information grabs takes place. The worksite people learn about the injury at hand and about risks affecting other workers. The authors and others have found that good investigators can come from physical therapy, loss control, case management, and other backgrounds.

Important for resolving the claim quickly is getting people at the worksite to collaborate in deciding what needs fixing and then to act on that. This is clear from Windham's own visits to worksites and pilots that others have conducted at one of the nation's largest employers.

Collaboration can focus on the claim or on the full cycle of injury and prevention. The claims adjuster will focus on the claim; the doctor, on the claim and perhaps somewhat on prevention. The employer looks at the full cycle.

These consultations share some techniques used by people who practice a behavioral approach to injury prevention. John Hidley, a physician who cofounded Behavioral Science Technology, of Ojai, Calif., is one of the original developers of this approach. His firm has promoted since the late 1970s a team process that involves employees in incident consultation. "Employee teams using our methods also do on-the-job pain interviews and behavioral observations of fellow employees to cut down injuries." Per Hidley, if you apply the collaborative potential of the work force, the to-dos of a visiting investigator become easier.

"Outside the box" are reports that go to the hungry users of the data: doctors, claims adjusters, and others. From conversations with customers of these consultations, one learns that successful consultations end in reports to many customers. A kind of "network effect" causes a report to one customer (such as the claims adjuster) to be more useful if at the same time a companion report finds a satisfied recipient at the worksite. We conclude that the discipline invested into making the information available to many actually enhances the value to each.

Why are these consultations not ordered more frequently? The conventional wisdom says that worksite insights are easy to obtain through a phone call or simple checklist. We think that conventional wisdom may be right for acute injuries, but wrong for repetitive injuries. Acute injuries such as falls, fractures, and bums are easily defined events. Risks are usually easy to discern after the injury but often not before. The worker usually can describe accurately the cause of injury and barriers to recovery.

The Six Horsemen

Cumulative trauma injuries are different. They often have long gestation periods marked with several warnings. The injured worker may experience numbness or pain for months before filing a claim. Then she or he may have a medical only claim for weeks or longer, before leaving work. Over these weeks or months the worker's coping resources may decline, and her or his fear of pain may rise. On the first day of lost time, the worker may behave as if she or he has been injured for some time.

This kind of injury demands the combined skills of an ergonomist, case manager, and business process consultant. The consultant must be competent and confident as high stakes claim, safety, and business issues are involved. These issues can be technical and vary by state and industry.

The ergonomic challenge is to sort out what caused the injury, and what barriers remain. The "Six Horsemen" of ergonomic injury are: repetitive motion, force, awkward postures, localized mechanical stress, vibration, and cold temperatures. Case management skills come to play in problem solving with the worker and in advising the claims adjuster and doctor. Business process skills are needed to advise the employer on safety improvements that in turn can often bring about a boost in productivity.

There is a significant learning curve involved using one worksite visit to:

* Report to the treating doctor the physical demands of the job;

* Report to the doctor, claims adjuster and employer on modified duty opportunities;

* Report on how remedies can be replicated to prevent future injuries; and

* Report on how remedies will actually improve work force productivity.

The discerning reader can pick out the inadequacies of many of these reports. A common error is to analyze the work and job only at homeostasis. We have found that in about half of cumulative trauma injuries, changes in work activity--for example, surges in volume--are material factors in causation or in return-to-work planning.

Another common error is indulging in America's infatuation with the digital camera. Photos imply a story and, for cumulative trauma injuries, as often as not their story is misleading. It is virtually impossible by using photographs to inform the reader sitting in a distant office about the cumulative effect of many factors over time on a worker.

Insurers who order these consultations on regular basis tend to be self-disciplined about choosing the claims to investigate. This discipline may take some time to perfect. Many cumulative trauma injuries are misclassified as acute trauma. Some good candidates will be medical only claims.

Should worksite consultations be regulated with respect to who does them and how they report? Other third-party consultations in workers' compensation, such as independent medical examinations, are partly regulated. If states decide that these consultations are beneficial, they may begin to set professional standards for who conducts them.

Low cost, individualized worksite consultations are coming of age. We believe that workers' comp claims executives are going to include them in their claims toolboxes. As Kathryn Butus, New England based claims adjuster with 18 years experience, notes, a professionally run consultation "is the only claims tool that consistently either returns someone with cumulative trauma to or keeps them at their regular job."

Michael S. Grasso, vice president of the Windham Group, Manchester N.H., is a board certified professional ergonomist. He can be reached via e-mail at mgraso @ windhamgroup.com. Peter Rousmaniere, a frequent writer and speaker on disability management, is president of Pain Disability Management LLC. He can be reached at pfr@rousmaniere.com.

COPYRIGHT 2002 Axon Group
COPYRIGHT 2002 Gale Group

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