An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective

Curtin, Andrea; Mannion, Arlene; Shprintzen, Robert J.; Whelan, Sally; Coyne, Rory; Leader, Geraldine

doi:10.1002/ajmg.a.62604

Cited by 1 publication

(1 citation statement)

References 23 publications

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“…As a result, it is common for young people with 22q11.2DS to experience learning delays compared to their peers as they progress through the upper years of primary school in specific areas such as math, reading comprehension, and abstract reasoning [7,[9][10][11]. All of these factors may impact on young people completing their education, and in light of this, authors of a recent study in the USA examining functional outcomes for adults with 22q11.2DS found that only 51 of 101 adults had completed high school [12].…”

Section: Introductionmentioning

confidence: 99%

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Roche,

Flynn,

Campbell

2024

OBM Genet

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22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed with 22q11.2DS. Mothers were included if their child had a genetic diagnosis of 22q11.2DS and was aged from 3 to 12 years old. The mothers were asked a series of open-ended questions to explore the educational experiences of their child. We adopted an inductive approach to our data analysis and conducted a reflexive thematic analysis resulting in the emergence of 4 major themes (1.) The impact of 22q11.2DS on a child’s learning; (2.) The impact of adaptive behaviour skills on their child’s learning; (3.) The level of support available within the educational setting and; (4.) Mothers’ perceptions about their child’s learning. From these themes, the following 12 sub themes were identified: absences affecting learning; the development of specific learning behaviours; the impact of a 22q11.2 DS diagnosis on their child’s self-perception; toileting, motor issues; communication; sleep; school and teacher support and the presence (or absence) of therapists. Finally, the mothers’ confidence about their child’s learning; mothers’ concerns and comparisons of their child; and mothers’ apprehension about their child’s future were all identified as sub-themes. Children with 22q11.2DS require increased and specific psychosocial support to allow them greater opportunities to fully participate in their learning environments. Mothers perceived the level of support their child received was greater during pre-school compared to that received at primary school. It was clear that a greater understanding of the needs of children with 22q11.2DS, by educators, was needed. Implications for tailored support for school-based learning and educational transitions for young children with 22q11.2DS are discussed.

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