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

Kates, Wendy R.; Mariano, Margaret A.; Antshel, Kevin M.; Chandra, Shanel; Gamble, Hilary; Giordano, Mark; MacMaster, Eric R.; Mattar, Mirabelle; Fleur, Diane St.; Faraone, Stephen V.; Fremont, Wanda

doi:10.1017/s0033291718002696

Cited by 16 publications

(19 citation statements)

References 51 publications

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“…Longitudinal studies have found that rates of psychopathology such as ADHD and psychotic symptoms in 22q11.2DS have variable trajectories and may remit or persist over time 51,52 . The cross-sectional design of the current study was unable to capture this variation in the same individuals over time and therefore associations reported between cognition and psychopathology may differ if measured longitudinally.…”

Section: Limitationsmentioning

confidence: 99%

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Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

et al. 2020

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22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk of psychiatric disorders and cognitive impairment. It remains unclear to what extent key cognitive skills are associated with psychopathology, and whether cognition is stable over time in 22q11.2DS. 236 children, adolescents and adults with 22q11.2DS and 106 typically developing controls were recruited from three sites across Europe. Measures of IQ, processing speed, sustained attention, spatial working memory and psychiatric assessments were completed. Cognitive performance in individuals was calculated relative to controls in different age groups (children (6-9 years), adolescents (10-17 years), adults (18+ years)). Individuals with 22q11.2DS exhibited cognitive impairment and higher rates of psychiatric disorders compared to typically developing controls. Presence of Autism Spectrum Disorder symptoms was associated with greater deficits in processing speed, sustained attention and working memory in adolescents but not children. Attention deficit hyperactivity disorder in children and adolescents and psychotic disorder in adulthood was associated with sustained attention impairment. Processing speed and working memory were more impaired in children and adults with 22q11.2DS respectively, whereas the deficit in sustained attention was present from childhood and remained static over developmental stages. Psychopathology was associated with cognitive profile of individuals with 22q11.2DS in an age-specific and domain-specific manner. Furthermore, magnitude of cognitive impairment differed by developmental stage in 22q11.2DS and the pattern differed by domain.

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Section: Limitationsmentioning

confidence: 99%

“…Furthermore, comorbidity of psychopathology in 22q11.2DS may affect associations between psychopathology and cognition. Comorbidity is a common feature of 22q11.2DS 51,53 . It could be argued that for the analysis of a specific trait, possible overlap at the item level with another trait should be taken into account.…”

Section: Limitationsmentioning

confidence: 99%

Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

et al. 2020

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“…It also examines the impact of physiological dysfunctions and medical interventions faced by these children, on the constitution of bodily unity, self-esteem, and processes of identification. Recent research (Kates et al, 2019) has shown the predictive impact of family conflict on anxiety disorders: clinical research on early interactions is therefore an important preventive direction.…”

Section: Discussionmentioning

confidence: 99%

Vulnerability to Psychosis: A Psychoanalytical Perspective. The Paradigmatic Example of 22q11.2 Microdeletion Syndrome

2020

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This paper outlines a psychoanalytic contribution to a growing research field in psychiatry: that of psychotic vulnerability, and the related neurogenetic modeling of schizophrenia. We explore this contribution by focusing on recent studies concerning a neurodevelopmental disorder, the 22q11.2 microdeletion syndrome-which comprises DiGeorge syndrome in particular. It is one of the most common rare genetic syndromes, and the patients that it affects present a very high rate of psychotic symptoms (between 30 and 40%). For this reason, it has sparked an increasing number of clinical research projects which give it a paradigmatic status, as much for psychotic vulnerability as for potential neurobiological and genetic markers of schizophrenia. This syndrome illustrates one of the major stakes in contemporary psychopathology: the articulation of clinical, neurocognitive, and genetic approaches in a pluri-disciplinary manner. We seek to show that psychoanalysis, when it participates in this articulation, opens up specific hypotheses and research perspectives. In particular, based on the epidemiological observation of the role of anxiety as a predictor for psychosis, we underline the potential relevance of psychoanalytically oriented differential clinical practice and the psychodynamics of anxiety: they can contribute to studies and clinical follow-up on the 22q11.2 microdeletion syndrome and, more widely, to research on the detection and prevention of psychotic vulnerability.

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“…Emerging mental, rather than physical, health concerns are more likely to bring adolescents and young adults with 22q11DS to medical attention 11,59,78,79 . Despite increasing awareness of the importance of planned transitions for young people with neurodevelopmental disorders to adult health and social care [80][81][82] , there is limited investigation of how best to do this 83,84 and future research is warranted. However, best practice guidelines for young people with 22q11DS should include a planned transition of mental health care (including psychiatric and cognitive assessments if resources allow) across different life stages and stressors.…”

Section: Q11ds As a Model For Neuropsychiatric Pleiotropy In Rare Copy Number Variantsmentioning

confidence: 99%

“…In studies of cognition in populations of CNV carriers, indices of cognitive functioning are used that are derived from studies in the general population. However, given the deviant level (often lower) and development (often slower) of cognitive functioning in such populations, general population indices of cognitive development may not be entirely applicable to individuals with pathogenic CNVs, which may hamper advances with respect to understanding cognitive outcomes in these individuals [82][83][84] . In addition, as is the case for a categorical approach with respect to neuropsychiatric disorders, the conceptualization of cognitive functioning in a dichotomous manner (i.e., intellectual disability yes/no) does not adequately represent the reality of the (normal) distribution of levels and trajectories of cognitive functioning.…”

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confidence: 99%

A Genetics-First Approach to Understanding Variation in Neuropsychiatric Outcomes: The 22q11.2 Deletion Syndrome

Fiksinski¹

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Aim. The purpose of this article is to provide an overview of current insights into the neurodevelopmental and psychiatric manifestations of 22q11.2 deletion syndrome (22q11DS) in children and adolescents. Recent findings. The pediatric neuropsychiatric expression of 22q11DS is characterized by high variability, both inter-individual and intra-individual (different expressions over the lifespan). Besides varying levels of intellectual disability, the prevalence of autism spectrum disorders, attention deficit disorders, anxiety disorders, and psychotic disorders in young individuals with 22q11DS is significantly higher than in the general population, or in individuals with idiopathic intellectual disability. Possible explanations for this observed phenotypic variability will be discussed, including genetic pleiotropy, gene-environment interactions, the age-dependency of phenotypes, but also the impact of assessment and ascertainment bias as well as the limitations of our current diagnostic classification system. Implications. The implications inferred by these observations mentioned above bear direct relevance to both scientists and clinicians. Observations regarding the neuropsychiatric manifestations in individuals with 22q11DS exemplify the need for a dimensional approach to neuropsychiatric assessment, in addition to our current categorical diagnostic classification system. The potential usefulness of 22q11DS as a genetic model to study the early phases of schizophrenia as well as the phenomenon of neuropsychiatric pleiotropy observed in many CNV's will be delineated. From a clinical perspective, the importance of regular neuropsychiatric evaluations with attention to symptoms not always captured in diagnostic categories and of maintaining equilibrium between individual difficulties and competencies and environmental demands will be discussed.

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

Cited by 16 publications

References 51 publications

Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

Vulnerability to Psychosis: A Psychoanalytical Perspective. The Paradigmatic Example of 22q11.2 Microdeletion Syndrome

A Genetics-First Approach to Understanding Variation in Neuropsychiatric Outcomes: The 22q11.2 Deletion Syndrome

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