scholarly journals Relationship between parent-reported gastrointestinal symptoms, sleep problems, autism spectrum disorder symptoms, and behavior problems in children and adolescents with 22q11.2 deletion syndrome

2020 ◽  
Vol 104 ◽  
pp. 103698
Author(s):  
Geraldine Leader ◽  
Maeve Murray ◽  
Páraic S. O’Súilleabháin ◽  
Leanne Maher ◽  
Katie Naughton ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Behavior Problems ◽  
Children And Adolescents ◽  
Sleep Problems ◽  
Gastrointestinal Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
And Behavior

scholarly journals Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

2014 ◽  
Vol 24 (6) ◽  
pp. 269-272 ◽  
Author(s):  
Petya D. Radoeva ◽  
Ioana L. Coman ◽  
Cynthia A. Salazar ◽  
Karen L. Gentile ◽  
Anne Marie Higgins ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis

2020 ◽  
Vol 25 (8) ◽  
pp. 1704-1717 ◽  
Author(s):  
Maria Rogdaki ◽  
Maria Gudbrandsen ◽  
Robert A McCutcheon ◽  
Charlotte E Blackmore ◽  
Stefan Brugger ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
White Matter ◽  
Brain Volume ◽  
Meta Analysis ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Structural Abnormalities

AbstractThe 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of volumetric brain abnormalities. The syndrome is also associated with an increased risk for neuropsychiatric disorders including schizophrenia and autism spectrum disorder. An earlier meta-analysis showed reduced grey and white matter volumes in individuals with 22q11.2DS. Since this analysis was conducted, the number of studies has increased markedly, permitting more precise estimates of effects and more regions to be examined. Although 22q11.2DS is clinically heterogeneous, it is not known to what extent this heterogeneity is mirrored in neuroanatomy. The aim of this study was thus to investigate differences in mean brain volume and structural variability within regions, between 22q11.2DS and typically developing controls. We examined studies that reported measures of brain volume using MRI in PubMed, Web of Science, Scopus and PsycINFO from inception to 1 May 2019. Data were extracted from studies in order to calculate effect sizes representing case–control difference in mean volume, and in the variability of volume (as measured using the log variability ratio (lnVR) and coefficient of variation ratio (CVR)). We found significant overall decreases in mean volume in 22q11.2DS compared with control for: total brain (g = −0.96; p < 0.001); total grey matter (g = −0.81, p < 0.001); and total white matter (g = −0.81; p < 0.001). There was also a significant overall reduction of mean volume in 22q11.2DS subjects compared with controls in frontal lobe (g = −0.47; p < 0.001), temporal lobe (g = −0.84; p < 0.001), parietal lobe (g = −0.73; p = 0.053), cerebellum (g = −1.25; p < 0.001) and hippocampus (g = −0.90; p < 0.001). Significantly increased variability in 22q11.2DS individuals compared with controls was found only for the hippocampus (VR, 1.14; p = 0.036; CVR, 1.30; p < 0.001), and lateral ventricles (VR, 1.56; p = 0.004). The results support the notion that structural abnormalities in 22q11.2DS and schizophrenia are convergent, and also to some degree with findings in autism spectrum disorder. Finally, the increased variability seen in the hippocampus in 22q11.2DS may underlie some of the heterogeneity observed in the neuropsychiatric phenotype.

scholarly journals Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)

2019 ◽  
Vol 50 (7) ◽  
pp. 1191-1202 ◽  
Author(s):  
H. A. Moulding ◽  
U. Bartsch ◽  
J. Hall ◽  
M. W. Jones ◽  
D. E. Linden ◽  
...  
Keyword(s):  
Cognitive Function ◽  
Young People ◽  
Motor Coordination ◽  
Developmental Coordination Disorder ◽  
Sleep Problems ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Coordination Disorder

AbstractBackgroundYoung people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive function remain undescribed in this population.MethodSleep problems, psychopathology, developmental coordination and cognitive function were assessed in 140 young people with 22q11.2DS (mean age = 10.1,s.d.= 2.46) and 65 unaffected sibling controls (mean age = 10.8,s.d.SD = 2.26). Primary carers completed questionnaires screening for the children's developmental coordination and autism spectrum disorder.ResultsSleep problems were identified in 60% of young people with 22q11.2DS compared to 23% of sibling controls (OR 5.00,p< 0.001). Two patterns best-described sleep problems in 22q11.2DS: restless sleep and insomnia. Restless sleep was linked to increased ADHD symptoms (OR 1.16,p< 0.001) and impaired executive function (OR 0.975,p= 0.013). Both patterns were associated with elevated symptoms of anxiety disorder (restless sleep: OR 1.10,p= 0.006 and insomnia: OR 1.07,p= 0.045) and developmental coordination disorder (OR 0.968,p= 0.0023, and OR 0.955,p= 0.009). The insomnia pattern was also linked to elevated conduct disorder symptoms (OR 1.53,p= 0.020).ConclusionsClinicians and carers should be aware that sleep problems are common in 22q11.2DS and index psychiatric risk, cognitive deficits and motor coordination problems. Future studies should explore the physiology of sleep and the links with the neurodevelopment in these young people.

scholarly journals Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

2017 ◽  
Vol 18 (5) ◽  
pp. 1071 ◽  
Author(s):  
Opal Ousley ◽  
A. Evans ◽  
Samuel Fernandez-Carriba ◽  
Erica Smearman ◽  
Kimberly Rockers ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion
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