Conditions included: Osteogenesis imperfecta, Fragile X syndrome, Sanfillipo, Down Syndrome, Mowat-Wilson syndrome, Moebius syndrome, Albinism, Achondroplasia, Muscular Dystrophy, Goldenhar syndrome, CHARGE, and KAT6A

A book to explain and disclose genetic conditions to a child was defined as a book written to disclose a genetic condition to a child, educate the child about their condition, or inform them about a condition in general. Relevant books were found by searching Google, Amazon, the electronic database PubMed, and receiving books from genetic counselors.

Gray literature searches were primarily utilized due to a preliminary search that identified more books could be found through gray literature than identified by searching electronic databases of scientific and medical literature. Gray literature is defined as “information produced by government agencies, academic institutions, and also the for-profit sector that is not typically made available by commercial publishers.” ("What Is Gray Literature? How Do I Search for It?")

Grey literature searches included the Google search engine and Amazon online retailer. Searches occurred between November 12 2023 and December 17, 2023. Identical search terms were used for all grey literature searches. It was identified that after the first 25 sites found on Google searches and 75 books from Amazon searches, saturation was reached.

A database of peer-reviewed published literature, PubMed, was also searched. Medical Subject Headings (MeSH) terms were used in the search string. Additional databases were not utilized due to inaccessibility of books using this method. Article timeframe was limited to January 1, 2013-December 12 2023 and all articles were recorded. If books were embedded in the article or could be easily accessed in supplemental material they were recorded, if not they were excluded. If a site or book provided a link to, mentioned, or cited a book reference, snowball searching was used to find the resource. Snowball searching is defined as “a way of tracking down related works by using the bibliography or reference list at the end of an article as a starting point.” (Searching: what is the snowball search method?, (2023).)

Correspondences with practicing genetic counselors revealed most children’s book knowledge came from colleagues. Therefore, the primary author (RBE) notified individuals about the research during her genetic counseling graduate school internship rotations and curricula. Genetic counselors volunteered their book knowledge of their own volition. Additionally, an email was sent to the UAB genetic counseling program Alumni requesting information about children’s books related to genetic conditions they have utilized in practice.

Books identified by the searches and provided by genetics experts for the project were exported to Covidence [Veritas health Innovation, Melbourne, Australia], an online software utilized for managing systematic and scoping reviews. Any duplicates detected by the software were automatically removed. Books were independently screened by two investigators and discrepancies were resolved by a third investigator. Books met inclusion criteria if they

1. Explained or disclosed a genetic condition,
2. targeted children ages 0-17,
3. were written in English,
4. were published between January 2013-December 12 2023, and
5. met the set definition of “book” (a resource that has a back and front cover with material between).

Data extraction of the books that passed through screening phases (97 books). The protocol was adapted from the Joanna Briggs Institute’s template for data extractions (Aromataris & Munn, 2020). Data extraction included genetic condition discussed, title of the book, author names, publisher, year published, number of pages, type of book, the relationship of the narrator with the individual affected, book access, reading level, and link to the book. If possible, the reading level was assessed by placing a minimum of 100 words from the book into Microsoft Word and utilizing the automatic Flesh-Kincaid grade-level test. If not possible, the book was still included but without an estimated reading level. Extracted data was collected in Microsoft Excel [Microsoft Corporation, Redmond, WA, USA].

The data review that was used to compile this list only identified books that were published between the dates January 2013 and December 12, 2023. The list only includes books that have been published in English. Therefore, this list is not all inclusive of all children’s books related to genetic conditions.

• Aromataris, E., & Munn, Z. (2020). JBI Manual for Evidence Synthesis. In. JBI. 
• “Searching: What Is the Snowball Search Method?” [RE]SEARCH Tips, Ghent University, 1 September 2023.
• “What Is Gray Literature? How Do I Search for It?” Welch Medical Library.