scholarly journals Psychiatric disorders associated with 22q11.2 deletion syndrome

2016 ◽  
Vol 8 (1) ◽  
Author(s):  
Orsola Gambini
Keyword(s):  
Psychiatric Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

not required

Basal ganglia calcification and psychosis in 22q11.2 deletion syndrome

2005 ◽  
Vol 20 (8) ◽  
pp. 567-569 ◽  
Author(s):  
M. Sieberer ◽  
H. Haltenhof ◽  
B. Haubitz ◽  
B. Pabst ◽  
K. Miller ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Psychiatric Disorders ◽  
Psychiatric Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Basal Ganglia Calcification ◽  
Future Work

AbstractIntracerebral calcifications are a facultative symptom of hypoparathyreoidism in 22q11.2 deletion syndrome (22qDS). We describe a patient with 22qDS, basal ganglia calcification (BGC) and psychotic symptoms and discuss the etiological connection of BGC with psychiatric symptoms. Future work needs to determine the prevalence of BGC in 22qDS and psychiatric disorders.

Trajectories of psychiatric diagnoses and medication usage in youth with 22q11.2 deletion syndrome: a 9-year longitudinal study

2018 ◽  
Vol 49 (11) ◽  
pp. 1914-1922
Author(s):  
Wendy R. Kates ◽  
Margaret A. Mariano ◽  
Kevin M. Antshel ◽  
Shanel Chandra ◽  
Hilary Gamble ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Middle Childhood ◽  
Internalizing Symptoms ◽  
Early Adulthood ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Medication Usage ◽  
22Q11.2 Deletion ◽  
Hyperactivity Disorder ◽  
Chromosome 22Q11.2

AbstractBackgroundChromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Accordingly, we followed youth over four timepoints, every 3 years, to assess long-term trajectories of attention-deficit hyperactivity disorder (ADHD), anxiety, mood, and psychosis-spectrum disorders (PSDs), as well as medication usage.MethodsEighty-seven youth with 22q11DS and 65 controls between the ages of 9 and 15 years at the first timepoint (T1; mean age 11.88 ± 2.1) were followed for 9 years (mean age of 21.22 ± 2.01 years at T4). Baseline cognitive, clinical, and familial predictors of persistence were identified for each class of psychiatric disorders.ResultsBaseline age and parent-rated hyperactivity scores predicted ADHD persistence [area under curve (AUC) = 0.81]. The presence of family conflict predicted persistence of anxiety disorders (ADs) whereas parent ratings of child internalizing symptoms predicted persistence of both anxiety and mood disorders (MDs) (AUC = 0.84 and 0.83, respectively). Baseline prodromal symptoms predicted persistent and emergent PSDs (AUC = 0.83). Parent-reported use of anti-depressants/anxiolytics increased significantly from T1 to T4.ConclusionsPsychiatric, behavioral, and cognitive functioning during late childhood and early adolescence successfully predicted children with 22q11DS who were at highest risk for persistent psychiatric illness in young adulthood. These findings emphasize the critical importance of early assessments and interventions in youth with 22q11DS.

scholarly journals Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ryo Saito ◽  
Chika Miyoshi ◽  
Michinori Koebis ◽  
Itaru Kushima ◽  
Kazuki Nakao ◽  
...  
Keyword(s):  
Locomotor Activity ◽  
Psychiatric Disorders ◽  
Mouse Models ◽  
Prepulse Inhibition ◽  
Animal Studies ◽  
22Q11.2 Deletion Syndrome ◽  
Social Recognition ◽  
Deletion Syndrome ◽  
Behavioral Tests ◽  
22Q11.2 Deletion

Abstract22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by the segmental deletion of human chromosome 22. This chromosomal deletion is known as high genetic risk factors for various psychiatric disorders. The different deletion types are identified in 22q11.2DS patients, including the most common 3.0-Mb deletion, and the less-frequent 1.5-Mb and 1.4-Mb deletions. In previous animal studies of psychiatric disorders associated with 22q11.2DS mainly focused on the 1.5-Mb deletion and model mice mimicking the human 1.5-Mb deletion have been established with diverse genetic backgrounds, which resulted in the contradictory phenotypes. On the other hand, the contribution of the genes in 1.4-Mb region to psychiatric disorders is poorly understood. In this study, we generated two mouse lines that reproduced the 1.4-Mb and 1.5-Mb deletions of 22q11.2DS [Del(1.4 Mb)/+ and Del(1.5 Mb)/+] on the pure C57BL/6N genetic background. These mutant mice were analyzed comprehensively by behavioral tests, such as measurement of locomotor activity, sociability, prepulse inhibition and fear-conditioning memory. Del(1.4 Mb)/+ mice displayed decreased locomotor activity, but no abnormalities were observed in all other behavioral tests. Del(1.5 Mb)/+ mice showed reduction of prepulse inhibition and impairment of contextual- and cued-dependent fear memory, which is consistent with previous reports. Furthermore, apparently intact social recognition in Del(1.4 Mb)/+ and Del(1.5 Mb)/+ mice suggests that the impaired social recognition observed in Del(3.0 Mb)/+ mice mimicking the human 3.0-Mb deletion requires mutations both in 1.4-Mb and 1.5 Mb regions. Our previous study has shown that Del(3.0 Mb)/+ mice presented disturbance of behavioral circadian rhythm. Therefore, we further evaluated sleep/wakefulness cycles in Del(3.0 Mb)/+ mice by electroencephalogram (EEG) and electromyogram (EMG) recording. EEG/EMG analysis revealed the disturbed wakefulness and non-rapid eye moving sleep (NREMS) cycles in Del(3.0 Mb)/+ mice, suggesting that Del(3.0 Mb)/+ mice may be unable to maintain their wakefulness. Together, our mouse models deepen our understanding of genetic contributions to schizophrenic phenotypes related to 22q11.2DS.

scholarly journals Two Novel Mouse Models Mimicking Minor Deletions in 22q11.2 Deletion Syndrome Revealed the Contribution of Each Deleted Region to Psychiatric Disorders

2020 ◽  
Author(s):  
Ryo Saito ◽  
Chika Miyoshi ◽  
Michinori Koebis ◽  
Itaru Kushima ◽  
Kazuki Nakao ◽  
...  
Keyword(s):  
Locomotor Activity ◽  
Psychiatric Disorders ◽  
Mouse Models ◽  
Prepulse Inhibition ◽  
Animal Studies ◽  
Negative Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Social Recognition ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Abstract 22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by the segmental deletion of human chromosome 22. This chromosomal deletion is known as high genetic risk factors for various psychiatric disorders. The different deletion types are identified in 22q11.2DS patients, including the most common 3.0-Mb deletion, and the less-frequent 1.5-Mb and 1.4-Mb deletions. In previous animal studies of psychiatric disorders associated with 22q11.2DS mainly focused on the 1.5-Mb deletion and model mice mimicking the human 1.5-Mb deletion have been established with diverse genetic backgrounds, which resulted in the contradictory phenotypes. On the other hand, the contribution of the genes in 1.4-Mb region to psychiatric disorders is poorly understood. In this study, we generated two mouse lines that reproduced the 1.4-Mb and 1.5-Mb deletions of 22q11.2DS [Del(1.4Mb)/+ and Del(1.5Mb)/+] on the pure C57BL/6N genetic background. These mutant mice were analyzed comprehensively by behavioral tests, such as measurement of locomotor activity, sociability, prepulse inhibition and fear-conditioning memory. Del(1.4Mb)/+ mice displayed decreased locomotor activity, which possibly reproduces the negative symptoms of schizophrenia. Del(1.5Mb)/+ mice showed reduction of prepulse inhibition and impairment of contextual- and cued-dependent fear memory, which is consistent with previous reports. Furthermore, apparently intact social recognition in Del(1.4Mb)/+ and Del(1.5Mb)/+ mice suggests that the impaired social recognition requires mutations both in 1.4-Mb and 1.5 Mb regions. Our previous study has shown that Del(3.0Mb)/+ mice mimicking the human 3.0-Mb deletion presented disturbance of behavioral circadian rhythm. Therefore, we further evaluated sleep/wakefulness cycles in Del(3.0Mb)/+ mice by electroencephalogram (EEG) and electromyogram (EMG) recording. EEG/EMG analysis revealed the disturbed wakefulness and non-rapid eye moving sleep (NREMS) cycles in Del(3.0Mb)/+ mice, suggesting that Del(3.0Mb)/+ mice may be unable to maintain their wakefulness. Together, our mouse models deepen our understanding of genetic contributions to schizophrenic phenotypes related to 22q11.2DS.

scholarly journals Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism

2019 ◽  
Vol 55 ◽  
pp. 116-121 ◽  
Author(s):  
Yaffa Serur ◽  
Dafin Sofrin Frumber ◽  
Keren Daon ◽  
Dolly Sobal-Havia ◽  
Ronnie Weinberger ◽  
...  
Keyword(s):  
Young Children ◽  
Psychiatric Disorders ◽  
Gold Standard ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Deletion Syndrome ◽  
Control Group ◽  
Child Psychiatrist ◽  
22Q11.2 Deletion

AbstractThe 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD.We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3–8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist.Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors.Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.

scholarly journals Discordance in diagnoses and treatment of psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome

2011 ◽  
Vol 4 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Andrea S. Young ◽  
Vandana Shashi ◽  
Kelly Schoch ◽  
Thomas Kwapil ◽  
Stephen R. Hooper
Keyword(s):  
Children And Adolescents ◽  
Psychiatric Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion
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