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Williams Syndrome Awareness Month
Date: May 1- May 30, 2022
May is Williams Syndrome Awareness Month.
What is Williams Syndrome?
Williams Syndrome also known as Williams-Beuren syndrome was discovered in 1961 by J.C.P. Williams, a Cardiologist from New Zealand. Williams Syndrome is a rare disorder with a prevalence of in 7,500 to 20,000 caused by the deletion of genetic material from chromosome 7. Williams syndrome symptoms include heart problems, low birth weight, l problems and developmental delays. 75 are diagnosed with mile to moderate intellectual disabilities or a learning disability.
Facts and Statistics
- It is a genetic condition that is present a birth.
- It is a developmental disorder
- Tend to have a mild or moderate intellectual disability.
- It is also known as Beuren Syndrome and Williams-Beuren Syndrome.
- The symptoms were first described by John C.P. Williams in 1961.
- A year later, German Physician, A.J. Beuren described three new incidents of patients with similar facial features.
- It is caused by the spontaneous deletion of 26-28 genes on Chromosome #7
- The deletion is caused by either the sperm or the egg.
- The deletion is present at the time of conception
- The most common symptoms of Williams Syndrome includes unusual facial features and heart defects.
- The diagnosis is typically confirmed after identifying facial features and genetic testing.
- An individual with Williams Syndrome has a 50% chance of passing the disorder on to their children.
- Williams Syndrome affects 1 in 10,000 people worldwide.
- An estimated 20,000 to 30,000 people in the United States are affected.
- It occurs in both males and females equally
- It is found in every culture
- Individuals with Williams Syndrome tend to be overly friendly.
- People with Williams Syndrome often have difficulty with visual-spatial tasks
- Congenital heart defects (CHD) occur in approximately 75 percent of children
- By the age of 30, the majority of individuals with Williams Syndrome have pre-diabetes or diabetes.
Physical characteristics include:
Musculoskeletal
Almond shape eyes
Broad forehead
long neck
Longer upper lip
Puffiness around the eyes
sloping shoulders
Small chin
Small upturned nose
Wide mouth
Learning Characteristics
During Williams Syndrome Awareness Month, You can create a fundraising page or team
Download awareness event planning tools
purchase an awareness t-shirt
For more information: Awareness Month | Williams Syndrome Association (williams-syndrome.org)
WHAT ARE THE EHLERS-DANLOS SYNDROMES?
Published by: The Ehlers-Danlos Society
The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the abnormal structure or function of collagen and certain allied connective tissue proteins.
They are generally characterized by joint hypermobility (joints that move further than normal range), joint instability (subluxation (partial separation of the articulating surfaces of a joint)) and dislocations (full separation of the surfaces of a joint), scoliosis, and other joint deformities, skin hyperextensibility (skin that can be stretched further than normal) and abnormal scarring, and other structural weakness such as hernias and organ prolapse through the pelvic floor. In the rarer types of EDS, there is also weakness of specific tissues that can lead, for example, to major gum and dental disease, eye disease, cardiac valve and aortic root disorders, and life-threatening abdominal organ, uterine, or blood vessel rupture.
The Ehlers-Danlos syndromes are currently classified into thirteen subtypes. In all but the hypermobile subtype (hEDS) genetics variants have been identified as the cause for the disorder and are part of the diagnostic criteria. Since the publication of the 2017 criteria for EDS a couple of other genes have been identified describing additional new subtypes. In particular, these include AEBP1-related EDS, and a COL1A1/A2 gene variant causing an overlap between EDS and Osteogenesis Imperfecta.
Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms can be matched up to the major and minor criteria to identify the subtype that is the most complete fit. That said, there can be substantial overlap between the EDS subtypes.
Sometimes a “provisional clinical diagnosis” of an EDS subtype is made. This can occur when a person meets a minimal clinical requirement but has no access to molecular confirmation or whose genetic testing shows one or more gene variants of uncertain significance. These individuals should be followed clinically, and alternative diagnoses and expanded molecular testing, skin histology (microscope examination of a skin biopsy), and testing of possibly affected family members should be considered.
Please remember that an individual’s experience with EDS is their own and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant. Click here to read the rest of the story
Autism Acceptance Month
Date: April 1- April 30, 2022
What is a Autism Spectrum Disorder?
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that impacts social, speech, behavioral and motor skills. It is a spectrum disorder meaning it varies from person to person. No two people have the same symptoms. It is estimated that 1% of the population is diagnosed with autism.
Prevalence
About 1 in 40 children has been identified with autism spectrum disorder (ASD).
1 in 42 boys are diagnosed with autism
1 in 189 girls are diagnosed with autism
100 individuals are diagnosed everyday
ASD is reported to occur in all racial, ethnic and socioeconomic groups.
ASD is 4 times more common among boys than girls.
Studies in Asia, Europe, and North American have idendified individuals with ASD with an average prevalence of between 1% and 2%.
About 1 in 6 children diagnosed with autism also have a developmental disability.
Parents who have a child with ASD have a 2%-18% chance of having a second child diagnosed with autism
Almost half (44%) of children diagnosed with ASD has average to above average intellectual ability.
ASD commonly co-occurs with other developmental, psychiatric, neurological, chromosomal and genetic diagnoses.
Stimming
- It is also prevalent among people on the autism spectrum.
- In fact in many cases, it is part of the diagnosis due to the repetition of stimming.
- Stimming is often used as a means to self-regulate, self-calm and for self-expression.
- The movements are repetitive and are used to self-stimulate the 7 senses.
- It is often described as a repetitive motor behavior that can disrupt academic and social and other activities.
- One of the theories behind stimming is that beta-endorphrins are released in the brain casuing an euphoric feeling which is generally a response to pain.
- Stimming behavior. based for self-soothing and to help a child or an adult regain emotional balance.
- Sensory Overload. Too much sensory information can lead to stress, anxiety and eventually a meltdown.
Wandering Statistics
- Nearly half of children with autism engage in wandering behavior
- Increased risks are associated with autism severity
- More than one third of children with autism who wander/elope are never or rarely able to communicate their name, address, or phone number
- Half of families report they have never received advice or guidance about elopement from a professional
- Accidental drowning accounts for 71% of lethal outcomes, followed by traffic injuries at 18%
- Other dangers include dehydration; heat stroke; hypothermia; falls; physical restraint; encounters with strangers
- Accidental drowning accounted for 91% total U.S. deaths reported in children with autism due to wandering.
Resources
Download Factsheet
World Asthma Day
Date May 5, 2022
World Asthma Day is organized by the Global Initiative for Asthma is held each May to raise awareness of asthma worldwide.
World Health Organization (WHO) recognizes that asthma is of major public health importance. According to WHO, it is estimated that more than 339 million people had asthma globally and there were 417,918 deaths due to asthma at the global level.
Asthma Facts
- Each child reacts differently to the factors that may trigger asthma
- There is no cure for asthma but can be managed with proper prevention pf asthma attacks an treatment
- More Americans than ever before have asthma. It is one of the country’s most common and costly diseases.
- Asthma is more common in boys than girls.
- It is the leading chronic disease in children
- Asthma is more common in adult women than adult men
- African Americans are five times more likely than white Americans to visit the emergency department
- On the average, ten Americans die from asthma each day
- When a child has asthma, their lungs are extra sensitive to certain stimuli or “triggers” which range from viral infections to allergies