Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis

Background Young people with 22q11.2 Deletion Syndrome (22q11.2DS) are at increased risk of schizophrenia, intellectual disability, Attention-Deficit Hyperactivity Disorder (ADHD) and autism spectrum disorder. In common with these conditions, 22q11.2DS is also associated with sleep problems. We investigated whether abnormal sleep or sleep-dependent network activity in 22q11.2DS may reflect convergent, early signatures of neural circuit disruption also evident in associated neurodevelopmental conditions. Methods We recorded high-density sleep EEG in young people (6-20 years) with 22q11.2DS (n=28) and their unaffected siblings (n=17), quantifying the associations between sleep architecture, EEG oscillations (spindles and slow-waves) and psychiatric symptoms. We also measured performance on a memory task before and after sleep. Results 22q11.2DS was associated with significant alterations in sleep architecture, including a greater proportion of N3 sleep and lower proportions of N1 and REM sleep than in siblings. During NREM sleep, deletion carriers showed increased power in slow delta and sigma oscillations, increased slow-wave and spindle amplitudes, and altered coupling between spindles and slow-waves. Spindle and slow-wave amplitudes correlated positively with overnight memory in controls, but negatively in 22q11.2DS. Mediation analyses indicated that increased slow-wave amplitude in 22q11.2DS was statistically mediated via ADHD symptoms. Conclusions This first study of sleep EEG in 22q11.2DS highlights several alterations in EEG signatures of NREM sleep, some of which were associated with ADHD symptoms. ADHD symptoms have previously been associated with incident psychotic symptoms in 22q11.2DS; our findings may therefore reflect delayed or compromised neurodevelopmental processes which precede, and may be biomarkers for, psychotic disorders.

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Schizophrenia patients and 22q11.2 deletion syndrome adolescents at risk express the same deviant patterns of resting state EEG microstates: A candidate endophenotype of schizophrenia

Schizophrenia Research Cognition ◽

10.1016/j.scog.2015.04.005 ◽

2015 ◽

Vol 2 (3) ◽

pp. 159-165 ◽

Cited By ~ 23

Author(s):

Miralena I. Tomescu ◽

Tonia A. Rihs ◽

Maya Roinishvili ◽

F. Isik Karahanoglu ◽

Maude Schneider ◽

...

Keyword(s):

At Risk ◽

Resting State ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

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

Psychological Medicine ◽

10.1017/s0033291719001119 ◽

2019 ◽

Vol 50 (7) ◽

pp. 1191-1202 ◽

Cited By ~ 5

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.

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SA103SLEEP IN YOUNG PEOPLE WITH 22Q11.2 DELETION SYNDROME

European Neuropsychopharmacology ◽

10.1016/j.euroneuro.2018.08.325 ◽

2019 ◽

Vol 29 ◽

pp. S1244-S1245

Author(s):

Hayley Moulding ◽

Ullrich Bartsch ◽

Nicholas Donnelly ◽

Jeremy Hall ◽

Michael Owen ◽

...

Keyword(s):

Young People ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

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Communication issues in 22q11.2 deletion syndrome: Children at risk

Genetics in Medicine ◽

10.1097/00125817-200101000-00015 ◽

2001 ◽

Vol 3 (1) ◽

pp. 67-71 ◽

Cited By ~ 59

Author(s):

Cynthia B Solot ◽

Marsha Gerdes ◽

Richard E Kirschner ◽

Donna M McDonald-McGinn ◽

Edward Moss ◽

...

Keyword(s):

At Risk ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Children At Risk ◽

22Q11.2 Deletion

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Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

2019 ◽

Vol 4 (5) ◽

pp. 857-869

Author(s):

Oksana A. Jackson ◽

Alison E. Kaye

Keyword(s):

Surgical Management ◽

Preoperative Evaluation ◽

Preoperative Assessment ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Surgical Decision ◽

Obstructive Sleep ◽

Spine Abnormalities ◽

Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

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Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

Author(s):

Canice E. Crerand ◽

Ari N. Rabkin

Keyword(s):

Cognitive Abilities ◽

Psychotic Disorders ◽

Developmental Stages ◽

Early Adulthood ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Psychosocial Risks ◽

Empirically Supported ◽

Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

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