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

Vingerhoets, Claudia; Oudenaren, M J F van; Bloemen, Oswald; Boot, Erik; Duin, Esther D.A. van; Evers, L. J. M.; Fiksinski, Ania; Breetvelt, Elemi J.; Palmer, Lisa D.; Vergaelen, Elfi; Vogels, Annick; Meijer, Carin J.; Booij, Jan; Risk, Genetic; Haan, L. de; Swillen, Ann; Vorstman, Jacob; Bassett, Anne S.; Amelsvoort, Thérèse van

doi:10.1192/bjp.2018.258

Cited by 15 publications

(16 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our detection rate of 22q11.2DS (1:137) is similar to that shows a lower detection rate (1:205.5), probably because of its milder phenotype [9,13]. However, the overall positive detection rates in our center for the two syndromes are significantly higher than those reported previously [1,3,8], probably due to our patient selection criteria. The diagnosis would be more convincing if we could obtain the CNV data of the 5 couples with 22q11.2 region-problem pregnancy.…”

Section: Discussioncontrasting

(Expert classified)

“…22q11.2 deletion syndrome (22q11.2DS) is one of the most common and best-characterized recurrent chromosomal deletion syndromes [1], with an incidence of approximately 1 in 1000 fetuses [2] and 1 in 4000 live births [3]. Most chromosome 22 genomic abnormalities are due to low copy repeat sequence (LCR)-mediated nonhomologous dislocations and uneven intrachromosomal or interchromosomal recombination during meiosis.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Jin

Yang

et al. 2020

Mol Cytogenet

View full text Add to dashboard Cite

Background: 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population. Results: We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing. Conclusion: Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.

show abstract

Section: Discussioncontrasting

(Expert classified)

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Jin

Yang

et al. 2020

Mol Cytogenet

View full text Add to dashboard Cite

show abstract

“…1 However, 22q11.2 deletion syndrome could provide some protection against substance use disorders as they appear to be less common in individuals with this syndrome than in those without. 6 ASD, anxiety disorders, and schizophrenia spectrum disorders are seen in all age groups, with a peak prevalence in the age range when these disorders are typically diagnosed, providing some evidence for stability of the psychiatric phenotype across the lifespan. 1 Phenotypic presentations of psychiatric disorders are similar to those in the general (non-deleted) population, although subtle differences have been reported with respect to ASD, ADHD, and psychosis.…”

mentioning

confidence: 99%

Neurobiological perspective of 22q11.2 deletion syndrome

Zinkstok

Boot

Bassett

et al. 2019

The Lancet Psychiatry

Self Cite

View full text Add to dashboard Cite

22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attentiondeficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial variability of the neuropsychiatric phenotype despite the shared underlying deletion in this genetic model. Factors that might explain this variability include genetic background effects, additional rare pathogenic variants, and potential regulatory functions of some genes in the 22q11.2 deletion region. These factors might also be relevant to the pathophysiology of these neuropsychiatric disorders in the general population. We review studies that might provide insight into pathophysiological mechanisms underlying the expression of neuropsychiatric disorders in 22q11.2 deletion syndrome, and potential implications for these common disorders in the general (non-deleted) population. The recurrent hemizygous 22q11.2 deletion, associated with 22q11.2 deletion syndrome, has attracted attention as a genetic model for common neuropsychiatric disorders because of its association with substantially increased risk of such disorders. 1 Studying such a model has many advantages. First, 22q11.2 deletion has been genetically well characterised. 2 Second, most genes present in the region typically deleted at the 22q11.2 locus are expressed in the brain. 3-5 Third, genetic diagnosis might be made early in life, long before recognisable neuropsychiatric disorders have emerged. Thus, this genetic condition offers a unique opportunity for early intervention, and monitoring individuals with 22q11.2 deletion syndrome throughout life could provide important information on factors contributing to disease risk and protection. Despite the commonly deleted region being shared by about 90% of individuals with 22q11.2 deletion syndrome, neuropsychiatric outcomes are highly variable between individuals and across the lifespan. A clear link remains to be established between genotype and phenotype. 3,5 In this Review, we summarise preclinical and clinical studies investigating biological mechanisms in 22q11.2 deletion syndrome, with a focus on those that might provide insight into mechanisms underlying neuropsychiatric disorders in 22q11.2 deletion syndrome and in the general population. Neuropsychiatric phenotype in 22q11.2 deletion syndrome Many psychiatrists will encounter a patient with 22q11.2 deletion syndrome during their career because of the recurrent nature of the associated deletion and high prevalence of psychopathology in this population. However, such an encounter might often occur unknowingly because of ongoing under-recognition of the syndrome. Schizophrenia and related psychotic disorders in 22q11.2 deletion syndrome have been the most widely studied. Lifetime prevalence of schizophrenia in 22q11.2 deletion syndrome is estimated to be about 25%. 1...

show abstract

“…One group of studies has investigated environmental effects in cohorts of 22q11DS patients. Studies looking into the role of maternal stress on children’s behaviour problems [ 28 ], of substance use on psychosis [ 35 ], of the character of a close relationship, of stressful events and neighbourhood danger on anxiety and depression [ 33 ], and general history of trauma [ 39 ] have reported non-significant findings. Other studies have shown significant effects of the following environmental factors: (1) 22q11DS patients with higher levels of parental anxiety or depression had significant increases in psychopathology [ 27 ]; (2) more usage of physical punishment was linked to higher levels of problem behaviours [ 29 ]; (3) individuals with higher parental education or parent intelligence showed higher IQ scores [ 30 , 31 ]; (4) higher parental socio-economic status (SES) correlated with higher social competency of patients [ 32 ], less frequent behaviour problems [ 37 ] or patients’ better global functioning [ 39 ]; (5) higher stress load—the number of negative life events, was associated with psychotic symptoms, e.g., hallucinations and delusions, as well as with dysfunctional coping strategies [ 34 ]; and (6) higher scores on peer victimisation and hostile close relationships were related to reports of both higher levels of anxiety and depression as well as to impaired tolerance to normal stress in patients [ 33 ].…”

Section: Within-group Studiesmentioning

confidence: 99%

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

Snihirova

Linden

Amelsvoort

et al. 2022

Genes

View full text Add to dashboard Cite

22q11.2 deletion syndrome (22q11DS) is a clinically heterogeneous genetic syndrome, associated with a wide array of neuropsychiatric symptoms. The clinical presentation is likely to be influenced by environmental factors, yet little is known about this. Here, we review the available research literature on the role of the environment in 22q11DS. We find that within-patient design studies have mainly investigated the role of parental factors, stress, and substance use, reporting significant effects of these factors on the clinical profile. Case-control studies have been less successful, with almost no reports of significant moderating effects of the environment. We go on to hypothesize which specific environmental measures are most likely to interact with the 22q11 deletion, based on the genes in this region and their involvement in molecular pathways. We end by discussing potential reasons for the limited findings so far, including modest sample sizes and limited availability of environmental measures, and make recommendations how to move forward.

show abstract

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

Cited by 15 publications

References 35 publications

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Neurobiological perspective of 22q11.2 deletion syndrome

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review

Contact Info

Product

Resources

About