Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome
Matthew K. HarnerMaya LichtensteinMartilias S. FarrellTyler DietterichDawn M. FilmyerLisa BrunoTamara F. BiondiJames J. CrowleyGabriel Lázaro‐MuñozRobert StoweRita A. ShaughnessyJonathan S. BergJin SzatkiewiczPatrick F. SullivanRichard C. Josiassen
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Microcephaly
Deletion syndrome
A male child with mental retardation and poor growth was found to have a 46,XY,r3 (p26 leads to q29) karyotype in 92% of his peripheral lymphocytes and 90% of his cultured fibroblasts. Comparison of this patient9s dysmorphic features with previously reported cases of ring 3 or deletion 3p suggests a clinical syndrome derived mainly from deletion of 3p26 leads to pter. The syndrome consists of mental retardation, pre- and postnatal growth retardation, microcephaly, hypertonia, digital anomalies, and a characteristic facies with ptosis, epicanthal folds, broad nasal root, down-turned corners of the mouth, and dysplastic ears.
Microcephaly
Ring chromosome
Deletion syndrome
Hypertonia
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22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder that represents one of the greatest known risk factors for psychosis. Previous studies in psychotic subjects without the deletion have identified a dopaminergic dysfunction in striatal regions, and dysconnectivity of striatocortical systems, as an important mechanism in the emergence of psychosis. Here, we used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients. We used a 2 × 2 factorial design including 125 subjects (55 healthy controls, 28 22q11.2DS patients without a history of psychosis, 10 22q11.2DS patients with a history of psychosis, and 32 subjects with a history of psychosis without the deletion), allowing us to identify network effects related to the deletion and to the presence of psychosis. In line with previous results from psychotic patients without 22q11.2DS, we found that there was a dorsal to ventral gradient of hypo- to hyperstriatocortical connectivity related to psychosis across both patient groups. The 22q11.2DS was additionally associated with abnormal functional connectivity in ventral striatocortical networks, with no significant differences identified in the dorsal system. Abnormalities in the ventral striatocortical system observed in these individuals with high genetic risk to psychosis may thus reflect a marker of illness risk.
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Deletion syndrome
Variable Expression
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Background: People with 22q11.2 deletion syndrome (DS) are assumed to be especially vulnerable to developing mental illness such as psychosis.Aim: The study was established to contribute to knowledge about metyrosine medication in patients with 22q11.2 DS and psychosis.Methods: A case study was established including a woman with intellectual disability, 22q11.2 DS, and psychosis. Metyrosine medication was implemented, as conventional anti-psychotic medication was unsuccessful.Results: Effect of metyrosine medication included both psychotic symptom relief with decreased aggressive behaviour. Adjunctive milieu therapy contributed to complience.Conclusion: For patients with 22q11.2 DS and psychosis, metyrosine medication may prove effective. However, there are significant ethical dilemmas related to metyrosine medication for psychotic symptoms.
Deletion syndrome
Acute Psychosis
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Persistence (discontinuity)
DiGeorge syndrome
Remittance
Deletion syndrome
Prodrome
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Purpose of review Individuals with 22q11.2 deletion syndrome have high rates of comorbid mental illness, particularly psychosis and schizophrenia. The purpose of this review is to summarize recent research in the area of 22q11.2 deletion syndrome and psychosis. Recent findings Research over the past year has identified negative symptoms, functional impairment, dysphoric mood and a childhood diagnosis of attention deficit hyperactivity disorder as important clinical predictors of psychosis risk in 22q11.2 deletion syndrome. As previously reported in nondeleted schizophrenia, recent studies have implicated neuroinflammation as a possible neurobiological mechanism for psychosis in 22q11.2 deletion syndrome. Recent neuroimaging findings suggest that the cortex is significantly thinner in those with 22q11.2 deletion syndrome and psychosis compared to those without psychosis, replicating similar findings in nondeleted schizophrenia. Further data from the International 22q11.2 Deletion Syndrome Brain and Behavior Consortium have suggested that chromosomal microdeletions are significantly more likely to involve protein-coding genes and several rare copy number variants are associated with the presence of psychosis in deleted individuals. Summary There have been several significant recent advances to further characterize the high rates of psychosis in 22q11.2 deletion syndrome, to identify additional clinical predictors of psychosis and to increase our understanding of the neural substrate and genetic aetiology of psychosis in 22q11.2 deletion syndrome.
DiGeorge syndrome
Deletion syndrome
Prodrome
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A case is reported of a newborn infant displaying symptoms resembling cat cry syndrome who had mental and growth retardation, and microcephaly, epicanthus, antimongoloid slant, low-set ears, hypertelorism, moon face, short neck, and cardiac failure. The chromosomal abnormality consisted in a partial deletion of the distal portion of the short arm (of a chromosome) of the 4-5 group.
Microcephaly
Hypertelorism
Chromosomal Abnormality
Abnormality
Deletion syndrome
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Deletion syndrome
DiGeorge syndrome
Sleep
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The 22q11. 2 deletion syndrome (22 DS) is frequently associated with psychiatric symptoms, especially psychosis. Here we report the case of a 41-year-old woman with 22 DS and a history of undiagnosed paranoid psychotic syndrome for many years that responded well to antipsychotic therapy with quetiapine.
Deletion syndrome
Quetiapine Fumarate
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