A retrospective diagnosis (also retrodiagnosis or posthumous diagnosis) is the practice of identifying an illness after the death of the patient (sometimes a historical figure) using modern knowledge, methods and disease classifications. [1] [2] Alternatively, it can be the more general attempt to give a modern name to an ancient and ill-defined scourge or plague. [3]
Retrospective diagnosis is practised by medical historians, general historians and the media with varying degrees of scholarship. At its worst it may become "little more than a game, with ill-defined rules and little academic credibility". [2] The process often requires "translating between linguistic and conceptual worlds separated by several centuries", [4] and assumes our modern disease concepts and categories are privileged. [4] Crude attempts at retrospective diagnosis fail to be sensitive to historical context, may treat historical and religious records as scientific evidence, or ascribe pathology to behaviours that require none. [5] Darin Hayton, a historian of science at Haverford College, claims that retrodiagnosing famous individuals with autism in the media is pointless, as historical accounts often contain incomplete information. [6]
The understanding of the history of illness can benefit from modern science. For example, knowledge of the insect vectors of malaria and yellow fever can be used to explain the changes in extent of those diseases caused by drainage or urbanisation in historical times. [3]
The practice of retrospective diagnosis has been applied in parody, where characters from fiction are "diagnosed"; e.g., authors have speculated that Squirrel Nutkin may have had Tourette syndrome [7] and that Tiny Tim could have had distal renal tubular acidosis (type I). [8]
Post-mortem diagnosis is considered a research tool, and also a quality control practice [9] and it allows to evaluate the performance of the clinical case definitions. [10] The term retrospective diagnosis is also sometimes used by a clinical pathologist to describe a medical diagnosis in a person made some time after the original illness has resolved or after death. In such cases, analysis of a physical specimen may yield a confident medical diagnosis. The search for the origin of AIDS has involved posthumous diagnosis of AIDS in people who died decades before the disease was first identified. [11] Another example is where analysis of preserved umbilical cord tissue enables the diagnosis of congenital cytomegalovirus infection in a patient who had later developed a central nervous system disorder. [12]
There have been many published speculative retrospective diagnoses of autism of historical figures. English scientist Henry Cavendish is believed by some to have been autistic. George Wilson, a notable chemist and physician, wrote a book about Cavendish entitled The Life of the Honourable Henry Cavendish (1851), which provides a detailed description that indicates Cavendish may have exhibited many classic signs of autism. [23] [24] [25] [26] The practice of retrospectively diagnosing autism is controversial. Professor Fred Volkmar of Yale University is not convinced; he claims that "There is unfortunately a sort of cottage industry of finding that everyone has Asperger's." [25]
Asperger syndrome (AS), also known as Asperger's syndrome or Asperger's, is a term formerly used to describe a neurodevelopmental condition characterized by significant difficulties in social interaction and nonverbal communication, along with restricted, repetitive patterns of behavior and interests. Asperger syndrome has been merged with other conditions into autism spectrum disorder (ASD) and is no longer considered a stand-alone diagnosis. It was considered milder than other diagnoses which were merged into ASD due to relatively unimpaired spoken language and intelligence.
Coeliac disease or celiac disease is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. Non-classic symptoms are more common, especially in people older than two years. There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body, or no obvious symptoms. Coeliac disease was first described in childhood; however, it may develop at any age. It is associated with other autoimmune diseases, such as Type 1 diabetes mellitus and Hashimoto's thyroiditis, among others.
The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental disorders (SDD), was a group of disorders characterized by delays in the development of multiple basic functions including socialization and communication. It was defined by the Diagnostic and Statistical Manual of Mental Disorders (DSM), and the International Classification of Diseases (ICD).
De Quervain syndrome occurs when two tendons that control movement of the thumb become constricted by their tendon sheath in the wrist. This results in pain and tenderness on the thumb side of the wrist. Radial abduction of the thumb is painful. On some occasions, there is uneven movement or triggering of the thumb with radial abduction. Symptoms can come on gradually or be noted suddenly.
Polyneuropathy is damage or disease affecting peripheral nerves in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that begins in early childhood, persists throughout adulthood, and affects two crucial areas of development: social communication and restricted, repetitive patterns of behavior. There are many conditions comorbid to autism spectrum disorder such as attention-deficit hyperactivity disorder and epilepsy.
The epidemiology of autism is the study of the incidence and distribution of autism spectrum disorders (ASD). A 2022 systematic review of global prevalence of autism spectrum disorders found a median prevalence of 1% in children in studies published from 2012 to 2021, with a trend of increasing prevalence over time. However, the study's 1% figure may reflect an underestimate of prevalence in low- and middle-income countries.
The autism-spectrum quotient (AQ) is a questionnaire published in 2001 by Simon Baron-Cohen and his colleagues at the Autism Research Centre in Cambridge, UK. Consisting of fifty questions, it aims to investigate whether adults of average intelligence have symptoms of autism spectrum conditions. More recently, versions of the AQ for children and adolescents have also been published.
A functional symptom is a medical symptom with no known physical cause. In other words, there is no structural or pathologically defined disease to explain the symptom. The use of the term 'functional symptom' does not assume psychogenesis, only that the body is not functioning as expected. Functional symptoms are increasingly viewed within a framework in which 'biological, psychological, interpersonal and healthcare factors' should all be considered to be relevant for determining the aetiology and treatment plans.
Asperger syndrome (AS) was formerly a separate diagnosis under autism spectrum disorder. Under the DSM-5 and ICD-11, patients formerly diagnosable with Asperger syndrome are diagnosable with Autism Spectrum Disorder. The term is considered offensive by some autistic individuals. It was named after Hans Asperger (1906–80), who was an Austrian psychiatrist and pediatrician. An English psychiatrist, Lorna Wing, popularized the term "Asperger's syndrome" in a 1981 publication; the first book in English on Asperger syndrome was written by Uta Frith in 1991 and the condition was subsequently recognized in formal diagnostic manuals later in the 1990s.
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) has a long history with an evolution in medical understanding, diagnoses and social perceptions.
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is an illness with a history of controversy. Although it is classified as an organic disease by a majority of researchers, it was historically assumed to be psychosocial, an opinion still held among many physicians. The pathophysiology of ME/CFS remains unclear, there exists many competing diagnostic criteria, and some proposed treatments are controversial. There is a lack of education and accurate information about the condition among a significant number of medical practitioners, which has led to substantiated accusations of patient neglect and harm.
Johann Friedrich Karl Asperger was an Austrian physician. Noted for his early studies on atypical neurology, specifically in children, he is the namesake of the former autism spectrum disorder Asperger syndrome. He wrote more than 300 publications on psychological disorders that posthumously acquired international renown in the 1980s. His diagnosis of autism, which he termed "autistic psychopathy," garnered controversy. Further controversy arose in the late 2010s over allegations that Asperger referred children to the Am Spiegelgrund children's clinic in Vienna during the Nazi period. The clinic was responsible for murdering hundreds of disabled children, although the extent of Asperger's knowledge of this fact and his intentions in referring patients to the clinic remains unknown.
Classic autism, also known as childhood autism, autistic disorder, (early) infantile autism, infantile psychosis, Kanner's autism, Kanner's syndrome, or (formerly) just autism, is a neurodevelopmental condition first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted, repetitive behaviors, activities, and interests. These symptoms first appear in early childhood and persist throughout life.
Bickerstaff brainstem encephalitis is a rare inflammatory disorder of the central nervous system, first described by Edwin Bickerstaff in 1951. It may also affect the peripheral nervous system, and has features in common with both Miller Fisher syndrome and Guillain–Barré syndrome.
Michael Fitzgerald is an Irish professor of child and adolescent psychiatry, specialising in autism spectrum disorder (ASD).
Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling chronic illness. People with ME/CFS experience a profound fatigue that does not go away with rest, sleep issues and problems with memory or concentration. Further common symptoms include dizziness, nausea and pain. The hallmark symptom is a worsening of the illness which starts hours to days after minor physical or mental activity. This "crash" can last hours or days to several months.
Autism spectrum disorders (ASDs) or autism spectrum conditions (ASCs) describe a range of conditions classified as neurodevelopmental disorders in the DSM-5, used by the American Psychiatric Association. As with many neurodivergent people and conditions, the popular image of autistic people and autism itself is often based on inaccurate media representations. Additionally, media about autism may promote pseudoscience such as vaccine denial or facilitated communication.
Sir Edward Johnson Wayne was an English physician, biochemist, thyroidologist, and professor of medicine.
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