| 1. |
- de Verdier, Kim, et al.
(författare)
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Blindness and Autism : Parents’ Perspectives on Diagnostic Challenges, Support Needs and Support Provision
- 2020
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Ingår i: Journal of autism and developmental disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 50:6, s. 1921-1930
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD), with or without intellectual disability (ID), is common in children with congenital blindness. This complex combination of disabilities often involves many challenges for the family. This study explored parents’ experiences of having a child with blindness and ASD (with or without ID), their support needs and experiences of the support provided. Interviews with eight parents, representing six families, were performed. The parents emphasized that assessment and diagnostic procedures must be performed by professionals with expertise in blind children’s development, and ASD. The support was often perceived as fragmented and did not correspond to the families’ needs. The results suggest that national guidelines should be produced, to ensure a more coordinated and tailored support to these families.
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| 2. |
- Wikström, Tove, et al.
(författare)
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Microbial and human transcriptome in vaginal fluid at midgestation: Association with spontaneous preterm delivery.
- 2022
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Ingår i: Clinical and translational medicine. - : Wiley. - 2001-1326. ; 12:9
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Tidskriftsartikel (refereegranskat)abstract
- Intrauterine infection and inflammation caused by microbial transfer from the vagina are believed to be important factors causing spontaneous preterm delivery (PTD). Multiple studies have examined the relationship between the cervicovaginal microbiome and spontaneous PTD with divergent results. Most studies have applied a DNA-based assessment, providing information on the microbial composition but not transcriptional activity. A transcriptomic approach was applied to investigate differences in the active vaginal microbiome and human transcriptome at midgestation between women delivering spontaneously preterm versus those delivering at term.Vaginal swabs were collected in women with a singleton pregnancy at 18 + 0 to 20 + 6 gestational weeks. For each case of spontaneous PTD (delivery<37 + 0weeks) two term controls were randomized (39 + 0 to 40 + 6weeks). Vaginal specimens were subject to sequencing of both human and microbial RNA. Microbial reads were taxonomically classified using Kraken2 and RefSeq as a reference. Statistical analyses were performed using DESeq2. GSEA and HUMAnN3 were used for pathway analyses.We found 17 human genes to be differentially expressed (false discovery rate, FDR<0.05) in the preterm group (n =48) compared to the term group (n =96). Gene expression of kallikrein-2 (KLK2), KLK3 and four isoforms of metallothioneins 1 (MT1s) was higher in the preterm group (FDR<0.05). We found 11 individual bacterial species to be differentially expressed (FDR<0.05), most with a low occurrence. No statistically significant differences in bacterial load, diversity or microbial community state types were found between the groups.In our mainly white population, primarily bacterial species of low occurrence were differentially expressed at midgestation in women who delivered preterm versus at term. However, the expression of specific human transcripts including KLK2, KLK3 and several isoforms of MT1s was higher in preterm cases. This is of interest, because these genes may be involved in critical inflammatory pathways associated with spontaneous PTD.
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