Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology

Autor/inn/en	Sinderberry, Brooke; Brown, Scott; Hammond, Peter; Stevens, Angela F.; Schall, Ulrich; Murphy, Declan G. M.; Murphy, Kieran C.; Campbell, Linda E.
Titel	Subtypes in 22q11.2 Deletion Syndrome Associated with Behaviour and Neurofacial Morphology
Quelle	In: Research in Developmental Disabilities: A Multidisciplinary Journal, 34 (2013) 1, S.116-125 (10 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0891-4222
DOI	10.1016/j.ridd.2012.07.025
Schlagwörter	Disability Identification; Mental Health; Congenital Impairments; Executive Function; Genetic Disorders; Behavior Problems; At Risk Persons; Physical Disabilities; Mental Retardation; Brain; Pervasive Developmental Disorders + Suchen Sie Ihr Suchwort? Psychohygiene; Risikogruppe; Physical handicap; Körperbehinderung; Geistige Behinderung; Gehirn
Abstract	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 (approximately 25-30% vs. approximately 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. (Contains 3 tables.) (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10