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

Is Williams Syndrome the Same as Down Syndrome?

Published by: Medicinet.com

What is Williams syndrome?

Williams syndrome is a genetic disorder that affects approximately one in 25,000 births. The syndrome is named for Dr. J.C.P. Williams, who first diagnosed the condition. He saw a pattern in children at his hospital receiving treatment for cardiovascular problems. These children shared traits like similar facial features and an unusually friendly and outgoing demeanor.

Williams syndrome is also called:

  • Beuren Syndrome
  • Early Hypercalcemia Syndrome with Elfin Facies
  • Elfin Facies with Hypercalcemia
    • Hypercalcemia-Supravalvar Aortic Stenosis
    • WBS
    • Williams-Beuren Syndrome
    • WMS

    What is down syndrome?

    Of all chromosomal conditions, Down syndrome is the most common with one in 700 babies diagnosed with Down syndrome. Most people are born with

    46 chromosomes, but those with Down syndrome have an extra copy of chromosome 2.

    While the physical features and behaviors are very similar, there are three different types of Down syndrome: Click here to read the rest of the story.

What is the Sensory Processing Disorder ICD-10 Code?

Published by: Autism Parenting Magazine
Written by: Yolande Loftus

Obtaining reimbursement for the treatment of sensory processing disorder may be tricky when a billable code to specify the diagnosis is a requirement. Certain classification systems may not even recognize the disorder—is the ICD-10-CM the code that legitimizes sensory processing disorder?

Sensory processing disorder (SPD) has an almost ghost-like presence in the medical world. Some doctors—mostly conventional—simply do not believe it is or should ever be a distinct disorder. Others seem almost frightened when parents mention their child’s meltdown triggered by the sound of a hoover.

With a mountain of evidence spelling out how just how severely sensory processing disorder affects children, why is there still so much scepticism? Some believe the exclusion of sensory processing disorder as a separate diagnosis in the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM–5; American Psychiatric Association, 2013) may be behind some of the doctors’ persistent doubts.

The DSM-5 is used by professionals, mainly in the US, to diagnose mental disorders. The disorder not receiving it’s own listing in this influential manual may have far reaching consequences for treatment and access to appropriate interventions.

But what about international standards and classifications of diseases and health conditions? At first glance The World Health Organization’s International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) seems a little more inclusive of sensory processing conditions.

A diagnostic debate

The ICD-10-CM classification system refers to “Sensory integration disorder” as an “Approximate Synonym” under the F88 code: a billable/specific code that could be utilized to indicate a diagnosis for reimbursement purposes.

Does this legitimize sensory processing disorders, and does it mean the condition deserves a separate medical diagnosis? Many doctors believe sensory processing issues merely form part of the symptoms of recognized conditions and disorders like autism and attention deficit hyperactivity disorder (ADHD). Doctors along with researchers argue that there is simply not enough proof to confirm the existence of the condition according to scientific standards.

Such arguments do create a bit of a chicken and egg situation: if the condition is not legitimized will expensive clinical studies be funded and undertaken? And without such studies how will SPD ever be deemed worthy of a distinct and official medical diagnosis? Click here to read the rest of the story.

Disorders Similar to Autism

Published by: Autism Parenting Magazine
Written by: Andreas RB Deolinda

Autism spectrum disorder (ASD) is a condition recognized by its heterogeneity in associated symptoms. So much so that every individual on the autism spectrum experiences a variety of symptoms different to the next person.

Autism is categorized by symptoms such as social interaction and social communication difficulties, restricted and repetitive patterns of behavior, interests, or activities as per the Diagnostic and Statistical Manual of Mental Disorders (DSM-V); other symptoms include sensory sensitivity and atypical behavior.

Due to the many different characteristics of autism, some conditions resemble autism spectrum disorders due to similarities in traits. This article aims to provide an overview of autism spectrum disorders and other pervasive developmental disorders that are found to be similar in symptoms, and break down their differences. In addition, it will highlight comorbid disorders that are commonly associated with ASD.

The article aims to provide parents of autistic children with an understanding of these conditions. It should also be beneficial for parents seeking answers for some symptoms experienced by their children.

Assessing autism and other disorders

It is advisable that children who may show symptoms of ASD be referred to multidisciplinary assessments; this helps to ensure that comprehensive assessments are done to differentiate autism spectrum disorders from other conditions with overlapping symptoms. The series of comprehensive assessments that are used to determine a particular diagnosis are called test batteries. Assessments should consider doing thorough analysis of developmental and health history. Click here to read the rest of the story.