This is a download on Childhood Disintegrative Disorder
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This is a download on Childhood Disintegrative Disorder
Learn more with the download and share with others.
Date: May 1- May 30, 2022
May is Williams Syndrome Awareness Month.
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.
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)
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
Date: April 1- April 30, 2022
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.
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.
Download Factsheet
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