Transforming the lives of people with Cystic Fibrosis

Published by: Queens University- Belfast

A Queen’s University research team have transformed the lives of thousands of people with Cystic Fibrosis by leading on the clinical development of treatments that address the underlying genetic disorder.

Summary of the impact

The Queen’s University Cystic Fibrosis research team is recognised as world leading, having worked for over 12 years supporting the development of drugs that improve the function of CTFR.

Prior to their work, treatments for Cystic Fibrosis have been focused on symptom control. However, during the last decade, Queen’s University Belfast has been at the forefront of major advancements in drugs targeting the underlying genetic deficit.

This work included the development of clinical trial protocols, and inclusion of key outcome measures such as; lung function (FEV1), pulmonary exacerbation rate, and Quality of Life (QoL) tools for use in clinical trials of new therapeutics.

Extensive clinical trial experience coupled with the Clinical Trial Network infrastructure established by Queen’s and the Belfast Health and Social Care Trust, resulted in Queen’s playing a pivotal role in a drug development programme working alongside Vertex Pharmaceuticals to deliver trials for single, double and triple therapies in Cystic Fibrosis.

Working with industry, clinical trial networks and contract research organisations and colleagues at other Higher Education Institutes such as Imperial College, Queen’s University has developed expertise in the delivery of clinical trials of single and multiple combination therapies. Click here to read the rest of the story.

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 subtypesIn 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

Autism and Visual Impairment

Epilepsy and Autism

Self-Regulation and Autism

Trisomy Awareness Month

Date: March 1- March 31, 2022

March is Trisomy Awareness Month.

Prevalence:

  • There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 4%, and mosaicism accounts for about 1%
  • Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome – about 6,000 each year
  • Down syndrome occurs in people of all races and economic levels
  • The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives
  • A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all
  • Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today
  • People with Down syndrome attend school, work, participate in decisions that affect them, have meaningful relationships, vote and contribute to society in many wonderful ways
  • All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses

The incidence of Down syndrome is between I in 1000 to 1 in 1,100 live birth worldwide.

  • Each year, approximately 3,000 to 5,000 children are born with Down syndrome.
  • 60-80% of children with Down syndrome having hearing issues
  • 40-45% of children with Down syndrome have congenital heart disease
Life Expectancy
  • The life expectancy increased slowly from 1900 to 1960 (by 89%) but rapidly grew from 1960 to 2007 (456%)
Life Expectancy by Race
  • Whites with Down syndrome in the United States had a median death at the age of 50 in 1997 compared to 25 years for African Americans and 11 for people of other races

Resources

10 Important Facts On Trisomy 18

Down Syndrome Timeline

Mosaic Down Syndrome

Turner Syndrome Awareness Month

Date: February 1-February 28, 2022

What is Turner Syndrome?

It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.

Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:

Facial Appearance
  • down-turning eyelids
  • low-set and prominent ears
  • small jaw
  • high narrow roof of mouth
  • neck webbing
Physical Appearance
  • broad chest with widely spaced nipples
  • narrow fingernails and toenails
  • hand and feet swelling
  • short fingers
  • smaller than average height
  • skin moles
Medical Issues
  • chronic middle ear infections
  • hearing loss
  • heart, liver and kidney abnormalities
  • delayed puberty
  • undeveloped ovaries
  • greater risk for diabetes
  • high risk for celiac
  • high risk for osteoporosis
  • GERD
  • scoliosis
  • hypertension
  • high risk obesity
  • may not have menstruations
Cognitive
  • normal intelligence in some cases
  • issues with visual spatial
  • nonverbal memory
  • executive function issues
  • difficulty in understanding social cues
  • behavior issues.
Mental Health
  • low-self-esteem
  • anxiety
  • depression

Resources

Website: February & Everyday Awareness – Turner Syndrome Foundation

What is Turner Syndrome?

The Turner Syndrome foundation offers activities scheduled for the month of February including downloading a social  media packet.