Pathogenic variants in glutamate receptor, ionotropic, NMDA‐1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental disorder with global developmental delay, with or without seizures (AD or AR GRIN1‐NDD). Here, we describe a novel homozygous canonical splice site variant in GRIN1 in a 12‐month‐old boy with early infantile epileptic encephalopathy and severe global developmental delay. This represents only the second family with a homozygous predicted‐null variant in GRIN1 reported to date. We review the published literature on AR GRIN1‐NDD and find that the phenotype in our patient is much more severe than those seen with homozygous missense variants. A similarly severe phenotype of intractable epilepsy and infantile death has only been reported in one other family with a homozygous nonsense variant in GRIN1. We, therefore, propose that biallelic predicted‐null variants in GRIN1 can cause a markedly more severe clinical phenotype than AR GRIN1‐NDD caused by missense variants.
PARCA-R scores showed good concordance although more children received scores below 85 with PARCA-R than Bayley-III, particularly in cognition (tables).COVID-19 (April 2020 -January 2021) 22/27 (81.5%) eligible children had a video consultation. PARCA-R scores were available on 15 (55.6%). Compared with pre-COVID-19, a larger proportion of children had language development standardised scores below 85 during the pandemic (table 2). We did not have sufficient power in our sample size to perform formal statistical testing. Conclusions Pre-COVID-19, PARCA-R was concordant with Bayley-III scores and was considered a valid alternative assessment. During the pandemic, questionnaire completion rates fell and lower standardised scores were achieved. Our cohort is small and the reasons for this require further investigation.
The primary purpose of this study was to be a pilot for a further, larger study to determine whether the homœopathic preparation Pertussin 30c was effective in preventing whooping cough. It was recognized that neither the numbers involved, nor the method followed would of themselves be sufficient to prove efficacy, but it was hoped that a positive result would permit the conclusion to be drawn that a further study would be in the public interest.694 valid replies from 1100 questionnaires sent to the parents of children who had had Pertussin 30 were compared with Hillingdon District's notified figures. Hillingdon FPC provided evidence of a wide degree of variability in the notification rates of pertussis. When there were taken into account the result suggested a degree of activity for Pertissin in excess of 50%. Although the assumptions are reasonable in themselves, no claim can be made to have demonstrated the effect of Pertussin in a statistially valid way. It is reasonable, however, to conclude that there is a good technical case for further investigation to be undertake, although with rising immunization rates it may not be justified in terms of reward for its cost. The trial has helped to define a possible method for doing this, which is described.
May not reduce the need for pleurectomy EDrrOR,-The British Thoracic Society's research committee has shown that aspiration is less painful than intercostal tube drainage.' Because of differences between the two populations studied, however, I question whether the authors are justified in concluding that "aspiration reduces the need for pleurectomy." Eighteen (58%) of the patients treated by intercostal drainage had a complete pneumothorax before treatment, compared with only 10 (34%) of the patients treated by simple aspiration. This difference, which occurred by chance, may be an alternative explanation for the higher rate of pleurectomy in the group treated by intercostal drainage. The absence of a significant difference between the two groups before treatment does not rule out this possibility.
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