Dataset Information

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

ABSTRACT: Most children with chromosome 22q11.2 deletion syndrome (22q11DS) have an IQ in the range that may allow them to be capable of understanding a genetic diagnosis despite mild intellectual disabilities. However, there are no publications that relate to the disclosure of a 22q11DS diagnosis to the affected child, or the factors that influence parents' disclosure to the child. A pilot study was conducted including eight semi-structured interviews with caregivers of children with 22q11DS, 10 to 17 years of age, to investigate the factors that influence how parents inform their children of the diagnosis. Six of eight participants had disclosed the diagnosis to the child, and most of these parents felt they could have benefited from additional advice from professionals to increase their confidence and success, as well as the child's comprehension of the information. Those who had not informed the child were uncertain about the words to use, how to initiate the conversation, or were concerned about the child's level of understanding. Our results demonstrate that genetics professionals should help prepare caregivers for conversations with their children about the diagnosis of 22q11DS, monitor the understanding of the diagnosis over time, and provide ongoing support.

SUBMITTER: Faux D

PROVIDER: S-EPMC3508376 | biostudies-other | 2012 Dec

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

Faux Dana D Schoch Kelly K Eubanks Sonja S Hooper Stephen R SR Shashi Vandana V

Journal of genetic counseling 20120831 6

Most children with chromosome 22q11.2 deletion syndrome (22q11DS) have an IQ in the range that may allow them to be capable of understanding a genetic diagnosis despite mild intellectual disabilities. However, there are no publications that relate to the disclosure of a 22q11DS diagnosis to the affected child, or the factors that influence parents' disclosure to the child. A pilot study was conducted including eight semi-structured interviews with caregivers of children with 22q11DS, 10 to 17 ye ...[more]

PMID: 22936417

Similar Datasets

Project description:BACKGROUND: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date. METHODS: We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents. RESULTS: Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial de novo 1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping. CONCLUSION: The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.

Project description:22q11.2 deletion syndrome (22q11DS) is recognized as one of the strongest genetic risk factors for the development of psychopathology, including dramatically increased prevalence of schizophrenia anxiety disorders, mood disorders, and Attention Deficit Hyperactivity Disorder (ADHD). Despite sharing a homogenous genetic deletion, the psychiatric phenotype in 22q11DS still present significant variability across subjects. The origins of such variability remain largely unclear. Levels of parental psychopathology could significantly contribute to phenotypic variability of offspring psychopathology, through mechanisms of gene x gene (GxG) and gene x environment (GxE) interactions. However, this hypothesis has not been explicitly tested to date in 22q11DS. In the present manuscript, we employed a longitudinal design to investigate bi-directional interactions of parental anxiety and depressive symptoms, estimated with Beck Depression Inventory and Beck Anxiety Inventory, and offspring level of psychopathology assessed with a combination of parentally reported Child Behavioral Checklist, Youth Self Report Questionnaire, and Structured Clinical Interviews for Prodromal Syndromes (SIPS). We tested associations in both typically developing healthy controls (HCs) (N = 88 participants; N = 131 time points) and in individuals with 22q11DS (N = 103 participants; N = 198 time points). We observed that 22q11DS individuals with higher levels of parental anxiety and depression presented significant increases in multiple forms of psychopathology, including higher internalizing and externalizing symptoms, as estimated both by parental and self-report questionnaires, along with higher negative and generalized symptoms as measured with the SIPS. Associations for positive and disorganized dimensions of the SIPS were not statistically significant. Purely longitudinal analysis pointed to bi-directional interactions of parental and child psychopathology, with marginally stronger longitudinal associations between early parental anxiety-depression and subsequent child psychopathology. Interestingly, associations between psychopathology across generations were significantly stronger in 22q11DS individuals compared to HCs. Our results show that parental levels of anxiety and depression are associated with levels of offspring psychopathology, particularly in individuals with 22q11DS. These findings point to the existence of GxG or GxE mechanisms, that should be investigated in future work. From a clinical perspective, they highlight a strong rational for the management of parental psychological well-being in 22q11DS.

Project description: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, attention-deficit 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.

Dataset Information

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

Publications

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets