Tag Archives: condition

Popliteal Pterygium Syndrome

What is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).

People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

How common is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.

What genes are related to popliteal pterygium syndrome?
Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor’s effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.

Communication Awareness

The first step to respectfully communicate with a person with a disAbility is simply by making an effort. There’s no absolute formula for compassion, but putting forth the effort — any effort, really — goes miles.

Recognize there are trigger words that often carry a deep connotation of disrespect and disregard for a magnitude of communities. Titles like “cripple,” “retard,” “slow” and “vegetable” carry vulgar consequence, but conversations surrounding people who have disAbilities deserve a deeper level of understanding than simply avoiding a handful of hurtful words.

These people are humans, not disAbilities.

Build, Don’t Box
Common tongue often highlights a person’s disAbilities like the elephant in the room. A more active approach is to acknowledge and applaud one’s abilities. Focus on the person, not the disAbility. And, just like any of us, we each have our challenges but we don’t go around telling people we “suffer from” one thing or the other. This language would steal any sort of confidence that we might overcome our daily hurdles.

Furthermore, it’s crucial to recognize individuals. For example: Jane is Jane/John is John. S/He is not one of “the handicapped,” “the paraplegics” or any other all-inclusive term. S/He is one, able individual who has paraplegia. The condition does not define her/him, and though s/he may be proud and affiliated with communities who engage paraplegia, it’s best to allow s/he the opportunity to define those relations.

Never Stop Learning
Simply put: Don’t be afraid to ask. If you’re concerned you don’t know how to interact with people with disAbilities, voicing your innocent naivety may be the wisest approach. Instead of shying away from the conversation and further alienating that person, seek out a respectful opportunity to ask about his or her story.

November is National Epilepsy Awareness Month

Epilepsy affects about 2 million people in the United States and is characterized by recurrent, unprovoked seizures. Delayed recognition of these seizures and inadequate treatment increases the risk for additional seizures, disAbility, decreased health-related quality of life and, in rare instances, death.

Although epilepsy can occur at any age, the condition is more likely to begin among children less than 2 years of age and adults older than 65 years. As do many who live with other chronic disorders, those with epilepsy often face challenges related to managing epilepsy treatment, symptoms, disAbility, lifestyle limitations, emotional stress, and stigma.

CDC’s Managing Epilepsy Well (MEW) Network is composed of individuals interested in improving the care of people with epilepsy. MEW Network members, including representatives from U.S. universities, community-based organizations, and CDC are working together to develop and test self-management programs and tools that help people with epilepsy better manage their disorder and improve their quality of life.

MEW programs available to communities include WebEase, UPLIFT, and PEARLS. WebEase (Epilepsy Awareness Support and Education) is an Internet self-management program designed to improve medication adherence, stress management, and sleep. UPLIFT (Using Practice and Learning to Increase Favorable Thoughts) is an Internet and telephone program that combines cognitive behavioral therapy with mindfulness to treat depression in people with epilepsy. PEARLS (Program to Encourage Active Rewarding Lives) is a home-based, collaborative-care depression treatment program for adults with epilepsy.

Interventions that are currently being tested by MEW network researchers include a self-management program that combines self-regulation and social support for adults with refractory epilepsy; an electronic decision-support system for clinics to improve self-management communication and behavior; and a consumer-driven self-management program. New projects include a telephone intervention for rural dwelling adults with epilepsy and cognitive impairment, and self-management training for adults with epilepsy and co-existing serious mental illness.