This study used population-based databases to ascertain birth defects and intellectual disability (ID), defined as full IQ < 70, in children born in Western Australia during 1980-99. Of the children surviving to 1 year (n = 474 285), 4.9% had birth defects and 1.3% ID. ID was identified in 7.9% of children with birth defects. After adjusting for sex, mother's age, race, parity, plurality, birthweight and gestational age the prevalence ratio (PR) [95% confidence interval (CI)] for ID in children with birth defects compared with those with no birth defects was 7.6 [7.2, 8.0]. Those with chromosomal anomalies comprised 3.2% of the group with birth defects. The percentage ID (and PR [95% CI]) in specific categories were: Down's syndrome 97% (84.5 [79.4, 90.0]), sex chromosome anomalies 30.3% (31.0 [23.8, 40.3]), other chromosomal anomalies 64.2% (54.2 [47.2, 62.3]). Birth defects were categorised according to system in the 96.8% of children with non-chromosomal anomalies. The percentage with ID (and PR [95% CI]) for birth defects in each system were: spina bifida 18.8 (16.7 [12.2, 23.0]); nervous (except spina bifida) 38.6 (33.4 [30.3, 36.9]); cardiovascular 4.2 (4.1 [3.5, 4.8]); gastro-intestinal 2.2 (2.0 [1.5, 2.7]); urogenital 2.6 (2.4 [2.0, 2.8]; musculo-skeletal 3.6 (4.0 [3.5, 4.6]); other non-chromosomal 7.0 (7.3 [6.5, 8.3]); and multiple systems 12.3 (10.2 [8.6, 12.2]). Birth defects were present in 30.2% of children with ID (27.7% of children with mild/moderate ID (IQ 40-69) and 54% of children with severe ID (IQ < 40)). Adjusted PRs for birth defects in children with any ID, mild/moderate ID and severe ID compared with children with normal intellectual function were 6.0 [5.8, 6.3], 5.5 [5.3, 5.8] and 10.5 [9.7, 11.4] respectively. The data are useful for those providing services for children with developmental disabilities especially for predicting family support and respite and accommodation requirements for children and adults with severe ID.

Proxy-reported psychological well-being and autonomy were within the normal range for children with Down syndrome. Physical well-being and social support scores were significantly lower than normative data. Proxy-reported scores for adolescents with Down syndrome were consistently poorer than for children with Down syndrome and the differences were clinically important.

Due to the curative potential and improvement in progression-free survival (PFS), high-dose chemotherapy followed by autologous stem cell transplantation (ASCT) is considered the standard of care for several hematologic malignancies, such as multiple myeloma, and lymphomas. ASCT typically involves support with blood product transfusion. Thus, difficulties arise when Jehovah's Witness patients refuse blood transfusions. In order to demonstrate the safety of performing "bloodless" ASCT (BL-ASCT), we performed a retrospective analysis of 66 Jehovah's Witnesses patients who underwent BL-ASCT and 1114 non-Jehovah's Witness patients who underwent transfusion-supported ASCT (TF-ASCT) at Cedars-Sinai Medical Center between January 2000 and September 2018. Survival was compared between the two groups. Transplant-related complications, mortality, engraftment time, length of hospital stay, and number of ICU transfers were characterized for the BL-ASCT group. One year survival was found to be 87.9% for both groups (P = 0.92). In the BL-ASCT group, there was one death prior to the 30 days post transplant due to CNS hemorrhage, and one death prior to 100 days due to sepsis. Based on our data, BL-ASCT can be safely performed with appropriate supportive measures, and we encourage community oncologists to promptly refer JW patients for transplant evaluation when ASCT is indicated.