Anaesthesia and orphan disease

Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan–McDermid syndrome: A qualitative study

“…Most cases result from the loss of a portion of chromosome in the 22q13 region, resulting from a simple deletion, an interstitial deletion, an unbalanced translocation, a ring chromosome, or other structural abnormality. Moreover, a smaller proportion of cases result from a pathogenic variant of the SHANK3 gene, which localizes to 22q13.3 1,2 . Phelan et al 3 described the classification of PMS as ‘ SHANK3 ‐related’ and ‘ SHANK3 ‐unrelated’, depending on whether this gene is disrupted/deleted.…”

“…Due to the great phenotypic variety, PMS is an underdiagnosed syndrome 9 . The differential diagnosis of PMS includes Prader–Willi, fragile X, Angelman, Smith–Magenis, trichorhinophalangeal, and velocardiofacial syndromes as well as ASD, cerebral palsy, and developmental delays and syndromes associated with hypotonia 1,2,10 . On confirmation of the genetic diagnosis, parents are recommended to receive genetic counselling 11 .…”

“…Phelan-McDermid syndrome (PMS), or 22q13.3 deletion, consists of a genetic mutation of the SHANK3 gene. 1,2 Most cases result from the loss of a portion of chromosome in the 22q13 region, resulting from a simple deletion, an interstitial deletion, an unbalanced translocation, a ring chromosome, or other structural abnormality. Moreover, a smaller proportion of cases result from a pathogenic variant of the SHANK3 gene, which localizes to 22q13.3.…”

“…Moreover, a smaller proportion of cases result from a pathogenic variant of the SHANK3 gene, which localizes to 22q13.3. 1,2 Phelan et al 3 described the classification of PMS as 'SHANK3-related' and 'SHANK3-unrelated', depending on whether this gene is disrupted/deleted. Also, genetic studies performed on the involvement of the SHANK3 gene have classified PMS geno types into class I deletions (including SHANK3 deletions alone or SHANK3 combined with deletion of ARSA and/or ACR and RABL2B), class II deletions (all other deletions), or sequence variants.…”

“…8 This chromosomal abnormality is of autosomal dominant inheritance or appears spontaneously (de novo). 1,2 Due to the great phenotypic variety, PMS is an underdiagnosed syndrome. 9 The differential diagnosis of PMS includes Prader-Willi, fragile X, Angelman, Smith-Magenis, trichorhinophalangeal, and velocardiofacial syndromes as well as ASD, cerebral palsy, and developmental delays and syndromes associated with hypotonia.…”