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

Nawa, Yoshihiro; Kushima, Itaru; Aleksić, Branko; Yamamoto, Maeri; Kimura, Hiroyuki; Banno, Masahiro; Hashimoto, Ryota; Ozaki, Norio

doi:10.1111/pcn.13361

Cited by 6 publications

(6 citation statements)

References 12 publications

(17 reference statements)

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“…While only three patients described in the literature have been trialed on clozapine, two of whom seemingly had a good response to treatment and one had a partial response. With this in mind, and as was previously noted by Nawa et al [3], dysfunction of non-dopaminergic pathways in the brain may be responsible for the development of psychotic symptoms in 3q29 deletion syndrome. In particular, as one of the leading candidate genes, DLG1, is involved in the regulation of glutamate receptors [10], clozapine may be more effective in this population compared to other antipsychotic medications, given its interaction with the glutamate system [3,11].…”

Section: Discussionsupporting

confidence: 61%

“…At the time of the assessment, her medication regimen included aripiprazole 15 mg/day, risperidone 1 mg/ day, prochlorperazine 15 mg/day, clozapine 275 mg/ day, buspirone 15 mg/day, sertraline 50 mg/day, and lorazepam 20 mg/day. Nawa et al [3] described four affected individuals diagnosed with schizophrenia. The first patient was a 55-yearold female who experienced insomnia and social anxiety at 18 years of age before developing psychotic symptoms at age 20 after patent ductus arteriosus surgery.…”

Section: Resultsmentioning

confidence: 99%

“…Nawa et al [3] described four affected individuals diagnosed with schizophrenia. The first patient was a 55-year-old female who experienced insomnia and social anxiety at 18 years of age before developing psychotic symptoms at age 20 after patent ductus arteriosus surgery.…”

Section: Resultsmentioning

confidence: 99%

“…Nonetheless, it is worth noting that among the individuals included in this review, treatment response was not obviously dependent on the presence or absence of a comorbid developmental disorder. For example, while six out of eight individuals were intellectually disabled, autistic, or both, the only two (presumably) neurotypical individuals experienced severe psychotic symptoms and were diagnosed with treatment-resistant schizophrenia, despite one responding well to clozapine [3]. Moreover, the third patient described by Nawa et al [3], and one of the only two individuals who exhibited a good response to treatment (clozapine, in particular), was described as having autistic features, mild dysmorphism, and suspected epilepsy.…”

Section: Discussionmentioning

confidence: 99%

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Response to Treatment in 3q29 Deletion Syndrome-Associated Psychosis: A Mini-Review

Colijn

2023

Neuropsychobiology

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3q29 deletion syndrome is characterized by various developmental abnormalities, medical issues, and neuropsychiatric symptoms, including psychosis. Although this syndrome may confer the greatest risk for schizophrenia of any copy number variation, response to antipsychotic medication has infrequently been described in the literature, and no reviews on the topic currently exist. As such, the purpose of this article was to review treatment response in 3q29 deletion syndrome-associated psychosis. A review of the literature was completed in December 2022 for English language articles that described treatment response to antipsychotic medications in affected individuals with schizophrenia-like presentations. Five articles that collectively described eight individuals were included. Four individuals had a poor treatment response to non-clozapine antipsychotic medications, three had a partial response, and one individual’s response to treatment was not described, despite having taken psychotropic medications of some kind. Additionally, three individuals received clozapine; one of whom partially responded, while two exhibited a good response. Treatment response did not clearly differ according to developmental history. 3q29 deletion syndrome may be associated with treatment-resistant psychotic symptoms. As such, clozapine therapy should be considered in such individuals, provided they meet criteria for treatment-resistant schizophrenia and no contraindications exist. However, this mini-review also highlights the need for more published case reports/series before more specific treatment recommendations can be made.

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Section: Discussionsupporting

confidence: 61%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Response to Treatment in 3q29 Deletion Syndrome-Associated Psychosis: A Mini-Review

Colijn

2023

Neuropsychobiology

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“…There are also some reports on 3q29 deletion syndrome which is connected with > 40-fold higher risk for schizophrenia and the presence of treatment-resistant psychotic symptoms, multiple medical comorbidities and early-onset dementia [ 104 , 105 ], 16p11.2 duplication and [ 106 ] and 17q12 deletion [ 107 ].…”

Section: Discussionmentioning

confidence: 99%

Copy Number Variations and Schizophrenia

et al. 2022

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Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods of treatment. A multitude of studies in this field focus on genetic variants, such as copy number variations (CNVs) or single-nucleotide variants (SNVs). Certain genetic disorders caused by CNVs including 22q11.2 microdeletion syndrome, Burnside-Butler syndrome (15q11.2 BP1-BP2 microdeletion) or 1q21.1 microduplication/microdeletion syndrome are associated with a higher risk of developing schizophrenia. In this article, we provide a unifying framework linking these CNVs and their associated genetic disorders with schizophrenia and its various neural and behavioural abnormalities.

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Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions

Furukawa

Kushima

Aleksić

et al. 2023

Neuropsychopharm Rep

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BackgroundCopy number variations (CNVs) have been implicated in psychiatric and neurodevelopmental disorders. Especially, 15q13.3 deletions are strongly associated with autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), attention deficithyperactivity disorder (ADHD), and mood disorder.Case PresentationWe present two siblings with ASD. They had a father with bipolar disorder (BD). Patient 1 is a 21‐year‐old female with ASD and mild ID, who had language delay and repetitive behavior in childhood, social difficulties, and refused to go to school because of bullying. She was hospitalized in a psychiatric hospital several times. Patient 2 is a 19‐year‐old male with ASD and ADHD. He did not have developmental delay, but had social difficulties and impulsiveness, then refused to go to school because of bullying. He was treated by a psychiatrist for anxiety and disrupted sleep rhythms. Array comparative genomic hybridization was performed for the siblings and parents. 15q13.3 deletions were detected in the siblings and their healthy mothers. No other pathogenic CNVs were detected. We performed whole‐genome sequencing of the family and identified 13 rare missense variants in brain‐expressed genes, which may be responsible for the phenotypic differences between the siblings and their mother.ConclusionsThis study shows incomplete penetrance and variable expressivity in 15q13.3 deletions. We detected second‐hit variants that may explain the phenotypic differences within this family. In addition, detecting 15q13.3 deletions may lead to early diagnosis and a better prognosis with careful follow‐up.

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

Cited by 6 publications

References 12 publications

Response to Treatment in 3q29 Deletion Syndrome-Associated Psychosis: A Mini-Review

Response to Treatment in 3q29 Deletion Syndrome-Associated Psychosis: A Mini-Review

Copy Number Variations and Schizophrenia

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions

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