Monday, February 22, 2010

Autism Spectrum Disorders

Debates regarding recent changes to the guidelines for diagnosis of Asperger syndrome, often considered a high-functioning form of autism which inhibits the ability to interact socially and causes repetitive behaviors, are ongoing. According to the Centers for Disease Control and Prevention (CDC), one in 110 children have an Autism Spectrum Disorder (ASD). Time Magazine reports that researchers at the University of Leicester, working with the NHS Information Center found that roughly 1 in 100 adults exhibit an ASD. Though the exact cause for these conditions is not known, the rate at which they are occurring is increasing. The Centers for Disease Control and Prevention indicate that autism and related disorders are more common than previously thought, though it is unclear if this increase is due to an improved ability to diagnose.


A developmental disorder that appears in the first three years of a child’s life, autism affects the brain’s development of social and communication skills. One in every 110 8-year-old children, and one of every 70 boys, in the United States has been diagnosed with autism. The CDC indicates that; per the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and International Classification of Diseases, Tenth Revision; “criteria have identified ASD rates ranging from 2.0 to 12.0 per 1,000 children” worldwide. Individuals with autism may repeat body movements, have difficulty communicating, and avoid social interaction, including physical contact. Findings from a study of mice with Fragile X Syndrome, a condition that is often linked to autism, indicate that delayed development in the sensory cortex of the brain may be the cause of autistic individuals’ aversion to touch. Dr. Gina Gómez de la Cuesta, from the National Autistic Society, notes that “Autism is common in people with fragile X syndrome, however there are many other causes of autism, most of which are not yet fully understood.”

Efforts to identify causes, treatments, and prevention measures for the disorder are ongoing. Some advocates maintain that diets removing gluten (found in wheat, barley, and rye) and casein (found in dairy) alleviate some of the symptoms of autism, however there has not been any scientific documentation of the success of these restricted diets. A now-discredited study published in the Lancet in 1998 indicated a link between autism and the measles, mumps, and rubella vaccine frequently administered in early childhood. According to experts, the frequency with which autism symptoms become more apparent at two years of age when receiving these vaccinations, is coincidental, as childhood vaccines do not cause the disorder.

New research indicates that babies born prior to the 26th week of pregnancy, are at a higher risk of developing autism. A recent study showed eight percent of 219 children born in this timeframe, met the criteria for an ASD at the age of 11. A comparison group of 153 children born full-term were also included in the study, none of whom exhibited signs of autism or other ASDs. The age of both parents has also been linked to a child’s likelihood of developing an ASD. Data collected from 4.9 million births in the 1990s in California indicated that compared with women in their mid- to late-20s, women giving birth after 40 had a 50 percent increase in the risk of having an autistic child. The father’s age was also found to impact the likelihood of having a child with autism, but only in the case of men over 40 having children with women under 30.

Recent research indicates a correlation between a deficiency in oxytocin, a hormone that makes women more maternal and men less shy, and autism or Asperger syndrome. In a study of 13 adults with high-functioning autism or Asperger syndrome, use of a nasal spray containing oxytocin was found to improve scores on a test involving recognition of faces. This type of medical intervention could provide an additional treatment option for children and adults with ASDs who are currently involved in behavioral interventions. Though often expensive, structured behavioral interventions and early intervention programs have been found to improve the language skills of children with ASDs, sometimes increasing the IQ of children as many as 18 points. Direct medical and non-medical costs for an individual with an extreme case can total as much as $72,000 per year. Medications, clinical visits, and occupational and speech therapy, as well as special education, camps, and child care are just some of the expenditures of parents of children with autism. As individuals with autism grow into adulthood, these costs continue, as caregivers and specialized programs may be needed.

There is still no known direct cause for autism and other ASDs. These conditions can put an emotional and economic strain on families, and can lead many parents to blame themselves for their children’s condition. With improved diagnostic tools and earlier diagnoses, children with autism can receive early intervention treatments and education to improve their outcomes.

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Monday, February 8, 2010

Amputation and Prosthesis in Haiti

As government agencies and non-governmental organizations flood Haiti to relief support, many are finding a lack of even the most basic medical equipment and supplies. Even before January 12th, Haiti’s healthcare system was unable to fully support the needs of the Haitian population which included 800,000 individuals with disabilities, and life-saving medications were in short supply but high demand. While outbreaks of tuberculosis, HIV, and cholera are the current major public health concerns, insuring the provision of rehabilitation services to the estimated 200,000 (some reports indicate 250,000) individuals who have undergone amputations as a result of the earthquake are especially pressing. This figure includes not only the 2-3,000 individuals who have had amputations of major bones as well as the thousands more who have fingers or toes amputated (per personal correspondence with Al Ingersoll, CP; Healing Hands for Haiti).



Without proper medical equipment and often in unsterile conditions, physicians providing care in Haiti since the earthquake struck have had to amputate the limbs of individuals who otherwise would die. The social stigma attached to individuals with disabilities in Haiti and other developing nations has led some Haitians to leave gangrene infections untreated, as they would rather die that face the prospect of living without an arm or leg. In addition to possible infection at wound sites, individuals who have suffered “crush injuries” or rhabdomyolysis are at risk developing kidney failure when the crushed muscle ruptures. Studies indicate that between four and 33 percent of patients with rhabdomyolysis develop kidney failure, but amputation of the affected limb has the potential to save the patient’s life. In order to perform these amputations, CNN reports that some surgeons have had to use “civil war medicine” – amputating limbs with saws and other instruments, often without anesthesia. Some estimates indicate that as many as 95 percent of Haitians who suffered crushing injuries in the earthquake will undergo amputation.

Haiti’s hospitals sustained considerable damage and what remains of the Haitian healthcare system has been overwhelmed by the demand of those in need of medical services. To fill this gap, clinics run both by local hospital staff and international aid organizations have been setup in tents outside the devastated buildings. Reports indicate that surgeons at University Hospital, Port-au-Prince’s largest hospital, performed approximately 225 amputations within the first few days following the earthquake. Though statistics are not available yet for the number of new amputees, Mirta Roses, director of the Pan American Health Organization, has indicated that some hospitals have reported performing as many as 30 amputation surgeries per day. Limitations of space, medical personnel, and other resources have forced many makeshift Haitian surgical wards to discharge individuals after amputations are completed, overloading what remains intact of Haiti’s fragile hospital system with patients in need of post-operative care. To assist further assist these individuals, organizations like Healing Hands for Haiti, Handicapped International, and Doctors Without Borders are making efforts to provide surgical and post-operative care following amputation. Additionally, Global Relief Technologies has introduced a system that allows for critical information about patients to be collected and uploaded to a PDA so that this information can be shared with other aid organizations to ensure high-quality care for all amputees.

In addition to the importance of post-operative care, individuals who have undergone amputation are in need of prostheses, but the devices commonly used in the developed world may not be best suited for use in Haiti. An average prosthesis can cost between $4,000 to $6,000 and in the United States a new amputee could expect to undergo a minimum of four fittings a year for the life of the prosthesis to ensure that the device is comfortable – in Haiti this is simply outside the realm of possibilities. Low-cost, high-quality devices developed by non-profit organizations, including the Center for International Rehabilitation (CIR) and Legs for All may be applicable for use in Haiti. Developed specifically for use in areas with limited resources, the Center for International Rehabilitation’s CIR Casting System could allow for the rapid fitting of Haitian amputees. Unlike traditional plaster-based prosthetic fabrication methods, the CIR Casting System uses a fabric bag filled with polystyrene beads and allows for the fabrication of prostheses in a fast, simple, and low-cost manner. A final prosthesis can be fabricated in less than two hours during a single clinical visit, compared with at least two clinical visits using traditional plaster-based methods. In addition to the development of this innovative fabrication method, the CIR conducts blended distance learning initiatives that combine online training with hands-on workshops to familiarize local technicians with the fabrication method. Since 2008, following trainings in Thailand and India, over 2,500 individuals have been fitted using the system and it has been widely accepted in these regions. However, as Jeffrey Bigelow, resident neurologist at Yale University who completed a survey of the needs of Haitian amputees for Healing Hands for Haiti in 2004, notes, it is important to recognize that even when using this type of appropriate technology, “devices need to be skillfully made or they’re just too painful to wear.”

Dr. Steven R. Flanagan, medical director of the Rusk Institute of Rehabilitation Medicine at NYU Langone Medical Center, noted that even in the best of circumstances, when an amputation site can be properly cared for, it can take four to six months for a traumatic amputation to heal completely. Even before they can be fitted, many of Haiti’s new amputees will require counseling to come to terms with their new lives as a part of Haiti’s generation of amputees.

Specialty physicians who wish to offer teleconsultation support to disaster-relief workers in Haiti, Health professionals who wish to provide volunteer support on the ground in Haiti, and U.S. healthcare institutions that are willing to provide services to victims of the earthquake who are airlifted to this country for urgent medical or rehabilitation care can register through iCons in Medicine.

Find out more about The Center for International Rehabilitation and the CIR’s innovative prosthetic technologies