Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Harner, Matthew K.; Lichtenstein, Maya; Farrell, Martilias S.; Dietterich, Tyler E; Filmyer, Dawn M.; Bruno, Lisa; Biondi, Tamara F; Crowley, James J.; Lázaro‐Muñoz, Gabriel; Stowe, Robert; Shaughnessy, Rita A.; Berg, Jonathan S.; Szatkiewicz, Jin P.; Sullivan, Patrick F.; Josiassen, Richard C.

doi:10.1016/j.schres.2020.08.012

Cited by 9 publications

(7 citation statements)

References 14 publications

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“…In this case series, TRS was a common characteristic among the four patients with 3q29 deletion. Another SCZ patient with 3q29 deletion was also reported to be treatment resistant 5 . As D2 receptor antagonists were not effective, a hyperdopaminergic state in the mesolimbic dopamine pathways may not play a crucial role in 3q29 deletion‐associated psychosis.…”

Section: Discussionmentioning

confidence: 99%

“…Another SCZ patient with 3q29 deletion was also reported to be treatment resistant. 5 As D2 receptor antagonists were not effective, a hyperdopaminergic state in the mesolimbic dopamine pathways may not play a crucial role in 3q29 deletion-associated psychosis. Consistent with this, mice with 3q29 deletion display an attenuated response to the psychostimulant amphetamine, suggesting hypodopaminergic activity in the striatum.…”

Section: Discussionmentioning

confidence: 99%

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Treatment‐resistant schizophrenia in patients with 3q29 deletion: A case series of four patients

Nawa

Kushima

Aleksić

et al. 2022

Psychiatry Clin Neurosci

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The 3q29 deletion is one of the strongest risk factors (odds ratio > 40) for schizophrenia (SCZ) 1 and is associated with other psychiatric disorders including intellectual disability (ID), autism spectrum disorder, and bipolar disorder. 2 However, details of psychiatric manifestations and treatment responses have not been described in these patients. Therefore, we present the longitudinal clinical course of four Japanese SCZ patients with 3q29 deletion.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Treatment‐resistant schizophrenia in patients with 3q29 deletion: A case series of four patients

Nawa

Kushima

Aleksić

et al. 2022

Psychiatry Clin Neurosci

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“…The findings in the present case and the frequently reported clinical features are given in Table I. 3,6 Thirty percent of patients with CHD have genetic defects and they may emerge as various genetic syndromes. For that reason, verification of the existence or absence of genetic defects in newborns with CHD is crucial.…”

Section: Discussionmentioning

confidence: 63%

“…In addition to high rate neuropsychiatric and neurodevelopmental problems, cardiac malformations like atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA) are seen with 3q29 microdeletion syndrome at a rate of 27%-28%. 3 The cardiac defect is one of the most serious manifestations of this syndrome 4 , and it may be the first clinical reflection as in this case. Pulmonary valve stenosis is rarely identified (about 5%) in 3q29 microdeletion syndrome which was also seen in this case.…”

Section: Discussionmentioning

confidence: 70%

3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report

Kaba¹,

Çelik²

2022

Turk J Pediatr

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Background. 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen. Case. A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome. Conclusions. In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.

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“…However, it remains an open question as to whether testing is similarly justified for other psychiatric conditions based on considerations of potential harms and benefits 69 . As we have previously argued 70, 71 , there is a shortage of the type of detailed clinical data needed to investigate the impact that large-effect CNVs have on health comorbidities and treatment outcomes in adult psychiatric patients. This limited knowledgebase has made it impossible to assess areas in which specific genetic etiologies may provide guidance to patients’ treatment management and understanding of individual health risks 72 .…”

Section: Discussionmentioning

confidence: 99%

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis

Farrell

Dietterich²,

Harner³

et al. 2022

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BackgroundIt remains unknown why ∼30% of patients with psychotic disorders fail to respond to treatment. Previous genomic investigations into treatment-resistant psychosis have been inconclusive, but some evidence suggests a possible link between rare disease-associated copy number variants (CNVs) and worse clinical outcomes in schizophrenia. Here, we test whether schizophrenia-associated CNVs are more prevalent in patients with treatment-resistant psychotic symptoms compared to previously published schizophrenia cases not selected for treatment-resistance.MethodsCNVs were identified using chromosomal microarrays and exome sequencing in 509 patients with treatment-resistant psychosis (a lack of clinical response to ≥ 3 adequate antipsychotic medication trials over at least five years of psychiatric hospitalization). Prevalence of schizophrenia-associated CNVs in this sample was compared against a previous large schizophrenia cohort study.ResultsIn total, 47 cases (9.2%) carried at least one CNV with known or possible neuropsychiatric risk. The prevalence of schizophrenia-associated CNVs (n=21; 4.1%) was significantly increased compared to a previous schizophrenia cohort study (p = 0.005322; OR = 1.93). This increase in prevalence was primarily due to duplications at 15q11.2-q13.1 and 16p11.2, which were independently associated with treatment-resistance in pairwise loci-based analysis.ConclusionsThese findings suggest that rare schizophrenia-associated CNVs, particularly duplications of 15q11.2-q13.1 and 16p11.2, may serve as biological entry points for studying treatment resistance. Further investigation will be necessary to elucidate the spectrum of phenotypic characteristics observed in adult psychiatric patients with disease-associated CNVs.

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Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Cited by 9 publications

References 14 publications

Treatment‐resistant schizophrenia in patients with 3q29 deletion: A case series of four patients

Treatment‐resistant schizophrenia in patients with 3q29 deletion: A case series of four patients

3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis

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