Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
Speech delays in 22q11.2DS come from both the missing gene piece and heart surgery history, not just how the child looks.
01Research in Context
What this study did
Rakonjac et al. (2016) compared three groups of school-age children.
Group one had the 22q11.2 microdeletion. Group two looked like the syndrome but had no deletion. Group three were typically developing peers.
All kids took the same speech and language tests. The team also noted who had heart surgery as a baby.
What they found
Children with the microdeletion scored lowest on every language measure.
The phenotype-only group sat in the middle: mild to moderate delays, still behind controls.
Heart surgery history mattered. Kids who had surgery talked worse, even if they shared the same genes.
How this fits with other research
Harrell et al. (2013) tried a 12-week computer brain-training program for teens with 22q11DS and saw early gains. Their pilot extends this paper: once you know the language profile, you can target it.
Mertz et al. (2014) studied Angelman syndrome and also found deletion subgroups had worse language. The pattern is similar: missing DNA means lower scores.
Angkustsiri et al. (2014) warned that parent report alone can over-diagnose ASD in 22q11DS. If you trust only parent forms, you might blame autism for delays that really come from the microdeletion plus surgery.
Why it matters
You now have two quick flags: check for the 22q11.2 deletion and ask about early heart surgery. Either one predicts extra language risk.
Start speech goals sooner and track them tighter for these kids. If the child lacks the deletion, still watch them; they can still need help, just not as much.
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02At a glance
03Original abstract
BACKGROUND: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. AIMS: The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. METHODS AND PROCEDURES: We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. OUTCOMES AND RESULTS: The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. CONCLUSIONS AND IMPLICATIONS: The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development.
Research in developmental disabilities, 2016 · doi:10.1016/j.ridd.2016.05.006