Risk Factors for the Emergence of Psychotic Disorders in Adolescents With 22q11.2 Deletion Syndrome

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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Clinical and cognitive risk factors for psychotic symptoms in 22q11.2 deletion syndrome: a transversal and longitudinal approach

European Child & Adolescent Psychiatry ◽

10.1007/s00787-013-0469-8 ◽

2013 ◽

Vol 23 (6) ◽

pp. 425-436 ◽

Cited By ~ 41

Author(s):

Maude Schneider ◽

Marie Schaer ◽

A. Kadir Mutlu ◽

Sarah Menghetti ◽

Bronwyn Glaser ◽

...

Keyword(s):

Risk Factors ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Psychotic Symptoms ◽

22Q11.2 Deletion ◽

Cognitive Risk ◽

Longitudinal Approach ◽

Cognitive Risk Factors

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The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study

European Psychiatry ◽

10.1016/j.eurpsy.2017.10.010 ◽

2018 ◽

Vol 48 (1) ◽

pp. 20-26 ◽

Cited By ~ 2

Author(s):

R. Weinberger ◽

O. Weisman ◽

Y. Guri ◽

T. Harel ◽

A. Weizman ◽

...

Keyword(s):

Psychotic Disorders ◽

22Q11.2 Deletion Syndrome ◽

Structured Interview ◽

Neurocognitive Functioning ◽

Deletion Syndrome ◽

Psychotic Symptoms ◽

Psychiatric Evaluation ◽

Neurocognitive Performance ◽

22Q11.2 Deletion ◽

Genetic Syndrome

AbstractBackgroundThe 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories.MethodsForty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12–35 years, were assessed at two time points (15.2 ± 2.1 months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB).Results22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS.ConclusionsOur results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS.

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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

Journal of Medical Genetics ◽

10.1136/jmedgenet-2019-106223 ◽

2019 ◽

Vol 57 (3) ◽

pp. 151-159 ◽

Cited By ~ 1

Author(s):

Martina Fanella ◽

Marianna Frascarelli ◽

Caterina Lambiase ◽

Alessandra Morano ◽

Marta Unolt ◽

...

Keyword(s):

Psychotic Disorders ◽

Genetic Model ◽

Inverse Correlation ◽

22Q11.2 Deletion Syndrome ◽

Myoclonic Epilepsy ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Left Handedness ◽

Low Iq ◽

Video Eeg

Background22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations.MethodsWe enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG).ResultsThirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics.Conclusions22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients’ genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.

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Low prevalence of substance use in people with 22q11.2 deletion syndrome

The British Journal of Psychiatry ◽

10.1192/bjp.2018.258 ◽

2019 ◽

Vol 215 (5) ◽

pp. 661-667 ◽

Cited By ~ 3

Author(s):

Claudia Vingerhoets ◽

Mathilde J.F. van Oudenaren ◽

Oswald J.N. Bloemen ◽

Erik Boot ◽

Esther D.A. van Duin ◽

...

Keyword(s):

Substance Use ◽

Substance Use Disorders ◽

Psychotic Disorders ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

Healthy Controls ◽

22Q11.2 Deletion ◽

Comt Genotype ◽

Cross Sectional ◽

Increased Risk

Background22q11.2 deletion syndrome (22q11DS), one of the most common recurrent copy number variant disorders, is associated with dopaminergic abnormalities and increased risk for psychotic disorders.AimsGiven the elevated prevalence of substance use and dopaminergic abnormalities in non-deleted patients with psychosis, we investigated the prevalence of substance use in 22q11DS, compared with that in non-deleted patients with psychosis and matched healthy controls.MethodThis cross-sectional study involved 434 patients with 22q11DS, 265 non-deleted patients with psychosis and 134 healthy controls. Psychiatric diagnosis, full-scale IQ and COMT Val158Met genotype were determined in the 22q11DS group. Substance use data were collected according to the Composite International Diagnostic Interview.ResultsThe prevalence of total substance use (36.9%) and substance use disorders (1.2%), and weekly amounts of alcohol and nicotine use, in patients with 22q11DS was significantly lower than in non-deleted patients with psychosis or controls. Compared with patients with 22q11DS, healthy controls were 20 times more likely to use substances in general (P < 0.001); results were also significant for alcohol and nicotine use separately. Within the 22q11DS group, there was no relationship between the prevalence of substance use and psychosis or COMT genotype. Male patients with 22q11DS were more likely to use substances than female patients with 22q11DS.ConclusionsThe results suggest that patients with 22q11DS are at decreased risk for substance use and substance use disorders despite the increased risk of psychotic disorders. Further research into neurobiological and environmental factors involved in substance use in 22q11DS is necessary to elucidate the mechanisms involved.Declaration of interestNone.

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Perioperative Risk Factors in Patients with 22q11.2 Deletion Syndrome Requiring Surgery for Velopharyngeal Dysfunction

The Cleft Palate-Craniofacial Journal ◽

10.1597/13-206 ◽

2015 ◽

Vol 52 (2) ◽

pp. 183-191 ◽

Cited By ~ 10

Author(s):

Carrie Stransky ◽

Marten Basta ◽

Donna M. McDonald-Mcginn ◽

Cynthia B. Solot ◽

Denis Drummond ◽

...

Keyword(s):

Risk Factors ◽

22Q11.2 Deletion Syndrome ◽

Perioperative Risk ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Perioperative Risk Factors

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Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome

Journal of Neural Transmission ◽

10.1007/s00702-016-1607-5 ◽

2016 ◽

Vol 123 (12) ◽

pp. 1491-1497 ◽

Cited By ~ 5

Author(s):

Yael Midbari Kufert ◽

Ariela Nachmani ◽

Einat Nativ ◽

Abraham Weizman ◽

Doron Gothelf

Keyword(s):

Psychotic Disorders ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

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S.06.02 Risk factors for schizophrenia and psychiatric treatments in 22q11.2 deletion syndrome

European Neuropsychopharmacology ◽

10.1016/s0924-977x(15)30038-9 ◽

2015 ◽

Vol 25 ◽

pp. S118 ◽

Cited By ~ 1

Author(s):

D. Gothelf

Keyword(s):

Risk Factors ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion

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A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes

European Psychiatry ◽

10.1016/j.eurpsy.2013.07.001 ◽

2014 ◽

Vol 29 (4) ◽

pp. 203-210 ◽

Cited By ~ 16

Author(s):

O. Zarchi ◽

A. Diamond ◽

R. Weinberger ◽

D. Abbott ◽

M. Carmel ◽

...

Keyword(s):

Psychotic Disorders ◽

Verbal Learning ◽

22Q11.2 Deletion Syndrome ◽

Learning Disorders ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Disruptive Disorders ◽

Microdeletion Syndromes ◽

Wide Perspective ◽

Visuospatial Functions

AbstractPurpose:22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS.Methods:Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls were compared for the rates of psychiatric disorders as well as cognitive executive and visuospatial functions.Results:We found that while anxiety, mood and disruptive disorders had an equally high prevalence among individuals with 22q11.2DS, WS and DDs, the 22q11.2DS group had the highest rates of psychotic disorders and the WS group had the highest rates of specific phobia. We also found that the WS group demonstrated more severe impairments in both executive and visuospatial functions than the other groups. WS and 22q11.2DS subjects had worse Performance-IQ than Verbal-IQ, a feature typical of non-verbal learning disorders.Conclusion:These findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS.

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