- Title
- Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology
- Creator
- Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Keiran C.; Campbell, Linda E.
- Relation
- Research in Developmental Disabilities Vol. 34, Issue 1, p. 116-125
- Publisher Link
- http://dx.doi.org/10.1016/j.ridd.2012.07.025
- Publisher
- Elsevier
- Resource Type
- journal article
- Date
- 2013
- Description
- 22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among adults with 22q11DS (∼25–30% vs. ∼1% in the general population). The purpose of this study was to investigate whether subtypes exist among people with 22q11DS, with a similar phenotype and an increased risk of developing mental health problems. Physical, cognitive and behavioural data from 50 children and adolescents with 22q11DS were included in a k-means cluster analysis. Two distinct phenotypes were identified: Type-1 presented with a more severe phenotype including significantly impaired verbal memory, lower intellectual and academic ability, as well as statistically significant reduced total brain volume. In addition, we identified a trend effect for reduced temporal grey matter. Type-1 also presented with autism-spectrum traits, whereas Type-2 could be described as having more 22q11DS-typical face morphology, being predominately affected by executive function deficits, but otherwise being relatively high functioning with regard to cognition and behaviour. The confirmation of well-defined subtypes in 22q11DS can lead to better prognostic information enabling early identification of people with 22q11DS at high risk of psychiatric disorders. The identification of subtypes in a group of people with a relatively homogenous genetic deletion such as 22q11DS is also valuable to understand clinical outcomes.
- Subject
- velo-cardio-facial syndrome (VCFS); 22q11.2 deletion syndrome (22q11DS); DiGeorge syndrome; cluster analysis; k-means; subtype; behavioural phenotype
- Identifier
- http://hdl.handle.net/1959.13/1316335
- Identifier
- uon:23140
- Identifier
- ISSN:0891-4222
- Language
- eng
- Full Text
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