32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4.7 at theta = 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2.63) and with D16S291 on chromosome 16 (max lod 3.98) at values of theta of 0.2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.

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Background: Whilst validated quality-of-recovery (QoR) tools exist for general surgery, there is no specific obstetric equivalent. We aimed to develop and evaluate a modified QoR score after elective Caesarean delivery. Methods: Twenty-two obstetric specific items were selected following review and modification of the QoR-40 survey by 16 experts and interviews with 50 stakeholders. Item selection was based on relevance to Caesarean delivery and endorsement by >66% of stakeholders. Items were tested on women pre-delivery, at 24 h, and 25 h post-delivery. An 11item obstetric-specific QoR score (ObsQoR-11) was created based on correlation with a numerical rating scale (NRS) of global health status (r>0.20) at all time points. Reliability, responsiveness, acceptability, and feasibility were tested. Results: One hundred and fifty-two women responded to the 22-item questionnaire pre-delivery (complete in 146), 100 at 24 h, and 10 at 25 h. The ObsQoR-11 correlated with the global health status NRS (r¼0.53; 95% confidence interval: 0.43e0.62; P<0.0001) and discriminated good vs poor recovery (NRS score 70 vs <70 mm) at 24 h. There was a negative correlation between the ObsQoR-11 score at 24 h and hospital length of stay (r¼e0.39; P¼0.003). ObsQoR-11 was reliable (internal consistency: 0.85; split-half 0.76; testeretest intra-class correlation coefficient r i >0.6 in 82% of items) and responsive (Cohen effect size: 1.36; standardised response mean: 0.85). A longer 22-item ObsQoR had high (97%) completion rates and short (median: 2 min) completion times. Conclusions: The ObsQoR-11 provides a valid, reliable, and responsive global assessment of recovery after elective Caesarean delivery.

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