[Posted on 1st November 2022 by Christopher Gillberg]
There are so many acronyms these days: ADHD, ASD, DCD, ID, LD, RAD, PANS/PANDAS, CP, EP, PDA/EDA, ESSENCE, and the list goes on. – Did you ever hear about or see the acronym BPS? No? Well, it is one that has not had sufficient impact “on the scene” - but should have been imprinted in the minds of all psychiatrists and pediatricians long ago.
BPS stands for “Behavioural Phenotype Syndromes” and is a catch-all concept for behavioural, cognitive, and emotional disorders that have a known cause/associated biological background factor (also referred to as “etiology”). Most of the syndromes included under the BPS acronym have some “typical” “physical/somatic” signs or symptoms associated with them.
BPS, in common-day parlance is now often referred to - and described in public websites – as “rare disorders”, even though there is no longer any clear definition of what might be considered “rare”. Many of the rare disorders/BPS have a prevalence of more than 1 in 1000 individuals in the general population (e.g., Down syndrome), and, in that sense, is definitely not so rare. In fact, at least one of the syndromes included under the BPS umbrella is very common in most countries (and I am talking about Fetal Alcohol Spectrum Disorder (FSAD) in this instance).
I would like to include a table here in which I list some of the most important “rare disorders”/BPS, syndromes that everybody involved in the field of ESSENCE should have at the very least heard or read about so that they can become properly evaluated and intervened for in clinical practice, schools, and within families.
Some of the most important BPS in psychiatry
- Fetal alcohol spectrum disorder
- Fetal valproate spectrum disorder
- 22q11 deletion
- Klinefelter (XXY)
- XYY (“Supermale” in the old literature)
- Turner (XO)
- XXX (“Superfemale” in the old literature)
- Fragile X
- Prader-Willi and Angelman
- Tuberous sclerosis
- Ehlers Danlos
Most of the BPS have a known or partially established genetic cause with specific chromosomal or gene abnormalities linked to them – albeit many of them appear “out of the blue” without there being a family history. However, some are caused by toxic/teratogenic factors operating during pregnancy and affecting the neural and otherwise physical development of the growing fetus (exemplified by FASD, and the thalidomide, valproic acid, and misoprostol embryopathy syndromes).
I wrote a textbook on Clinical Child Neuropsychiatry back in the early 2000s (Gillberg 2003). It includes a large chapter specifically on BPS. Interestingly, in spite of the enormous growth in terms of genetic research and understanding of how our chromosomes and genes influence development, for many of the BPS, knowledge development has been slow, and what was true 20 years ago is still the common truth about the individual syndrome. For people interested and wanting to learn more about BPS (and about ESSENCE more generally), that old book is still worth browsing through.
I will go on here to say a little bit more about some of the syndromes listed in the table, but do not consider this text as the final word, just a little about some things relating to BPS that most people either seem to have forgotten about, or actually got it wrong. – I will include a number of sub-headings so as not to have you read a whole mass of text without any kind of guideline as to what the next section will be all about. Please excuse the abundant use of quote-unquote in the text; reason being that I want to be able to use language that can be understood outside of the medical community, and many of the terms used are “translations” into everyday common parlance words or concepts.