Tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome. We conducted a retrospective case study of the neuro-epileptic risk factors predisposing to autism spectrum disorder in individuals with tuberous sclerosis to test current neurobiological theories of autism spectrum disorder. We found that an autism spectrum disorder diagnosis was associated with the presence of cortical tubers in the temporal but not other lobes of the brain. Indeed, the presence of tubers in the temporal lobes appeared to be a necessary but not sufficient risk factor for the development of an autism spectrum disorder. However, contrary to the predictions of some theories, the location of tubers in specific regions of the temporal lobe, such as the superior temporal gyrus or the right temporal lobe, did not determine which individuals with temporal lobe tubers developed an autism spectrum disorder. Instead, outcome was associated with various indices of epileptic activity including evidence of temporal lobe epileptiform discharges on EEG, the age to onset of seizures in the first 3 years of life and a history of infantile spasms. The results indicated that individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early-onset, persistent spasm-like seizures. These risk markers constitute useful clinical indicators of prognosis, but further research is required to identify the neurobiological mechanisms responsible for their association with outcome. Most especially, it will be important to test whether, as the findings suggest, there is a critical early stage of brain maturation during which temporal lobe epilepsy perturbs the development of brain systems that underpin 'social intelligence' and possibly other cognitive skills, thereby inducing an autism spectrum disorder.

Previous functional brain imaging studies suggest that the ability to infer the intentions and mental states of others (social cognition) is mediated by medial prefrontal cortex. Little is known about the anatomy of empathy and forgiveness. We used functional MRI to detect brain regions engaged by judging others' emotional states and the forgivability of their crimes. Ten volunteers read and made judgements based on social scenarios and a high level baseline task (social reasoning). Both empathic and forgivability judgements activated left superior frontal gyrus, orbitofrontal gyrus and precuneus. Empathic judgements also activated left anterior middle temporal and left inferior frontal gyri, while forgivability judgements activated posterior cingulate gyrus. Empathic and forgivability judgements activate specific regions of the human brain, which we propose contribute to social cohesion.

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Background: Long COVID describes new or persistent symptoms at least four weeks after onset of acute COVID-19. Clinical codes to describe this were recently created. Aim: To describe the use of long COVID codes, and variation of use by general practice, demographics and over time. Design and Setting: Population-based cohort study in English primary care records. Method: Working on behalf of NHS England, we used OpenSAFELY data encompassing 96% of the English population between 2020-02-01 and 2021-04-25. We measured the proportion of people with a recorded code for long COVID, overall and by demographic factors, electronic health record software system (EMIS or TPP), and week. Results: Long COVID was recorded for 23,273 people. Coding was unevenly distributed amongst practices, with 26.7% of practices having never used the codes. Regional variation, ranged between 20.3 per 100,000 people for East of England (95% confidence interval 19.3-21.4) and 55.6 in London (95% CI 54.1-57.1). Coding was higher amongst women (52.1, 95% CI 51.3-52.9) than men (28.1, 95% CI 27.5-28.7), and higher amongst EMIS practices (53.7, 95% CI 52.9-54.4) than TPP practices (20.9, 95% CI 20.3-21.4). Conclusion: Long COVID coding in primary care is low compared with early reports of long COVID prevalence. This may reflect under-coding, sub-optimal communication of clinical terms, under-diagnosis, a true low prevalence of long COVID diagnosed by clinicians, or a combination of factors. We recommend increased awareness of diagnostic codes, to facilitate research and planning of services; and surveys of clinicians’ experiences, to complement ongoing patient surveys.

Hemoglobinopathies are the most common inherited disorders. Newborn blood screening for clinically significant hemoglobin variants, including sickle (HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledged that early detection improves the outcome. We present a method for determination of Hb variants by direct surface sampling of dried blood spots by use of an Advion Triversa Nanomate automated electrospray system coupled to a high-resolution mass spectrometer. The method involves no sample preparation. It is possible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in <10 min without the need for additional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerant of blood spot storage conditions.