Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease

Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review

“…None of the included studies were randomized or blinded in design. Additionally, 30 case reports (Aksu & Demirkaya, ; Angelopoulos et al, ; Biswas, Hands, & White, ; Boot, Butcher, van Amelsvoort et al, 2015; Borders, Suzuki, & Safani, ; Briegel, ; Butcher et al, ; Demily, Poisson, Thibaut, & Franck, ; Engebretsen, Kihldal, & Bakken, ; Faedda, Wachtel, Higgins, & Shprintzen, ; Farrell et al, ; Gagliano & Masi, ; Gladston & Clarke, ; Gothelf et al, ; Jacobson & Turkel, ; Kontoangelos, Maillis, Maltezou, Tsiori, & Papageorgiou, ; Kook et al, ; Krahn, Maraganore, & Michels, ; Le Page, ; Molebatsi & Olashore, ; Muller & Fellgiebel, ; O'Hanlon, Ritchie, Smith, & Patel, ; Ohi et al, ; Perret et al, ; Praharaj & Sarkar, ; Ruhe, Qureshi, & Procaccini, ; Sachdev, ; Starling & Harris, ; Thomas, ; Yacoub & Aybar, ) were included, summarized in Table . One publication described both a cross‐sectional study and a case report (Butcher et al, ), and is therefore included in both Tables and .…”

“…Leukopenia was reported with the use of olanzapine monotherapy and clozapine monotherapy (Engebretsen et al, ). Thrombocytopenia has been reported in many patients that used clozapine (Farrell et al, ; Praharaj & Sarkar, ), risperidone (Farrell et al, ), haloperidol (Le Page, ), olanzapine (Farrell et al, ; O'Hanlon et al, ; Praharaj & Sarkar, ), and perphenazine (Farrell et al, ).…”

Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

“…To improve our knowledge base more rapidly, Sullivan and Owen 23 proposed clinical crowd-sourcing, "a systematic effort be launched to obtain high quality case-reports and case series that would begin to inform reasonable therapeutic clinical management of these complex schizophrenia cases." Several recent examples in the literature [24][25][26] underscore the potential value of making more widespread use of CMA in such instances.…”

Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians

“…11,12 Furthermore, only a handful of copy number variants (CNVs) have been linked to psychiatric disorders, such as 22q11.2 (schizophrenia, ADHD, autism spectrum disorder) and 17p11.2 (autism spectrum disorder), 13,14 and the prevalence of CNVs among patients with psychiatric disorders is relatively low. 5,14 Moreover, the most recent estimated heritability based on single nucleotide polymorphisms (SNPs) identified in GWAS is modest (45% for schizophrenia, 37% for obsessive compulsive disorder, 21% for bipolar disorder, and just about 8% for major depressive disorder and substance use disorders). 2 Finally, while GWAS have identified genomic markers that: may predict response to antidepressant, lithium, stimulant, and antipsychotic therapy (e.g., 4p15.1, 9q33.3); identify individuals at risk for antipsychotic-induced weight gain (e.g., MC4R ) and; predict the risk of severe cutaneous side effects in patients taking Carbamazepine (e.g., HLA-A*3101), most studies have been limited by their relatively small sample sizes.…”

“…Researchers and private enterprises are actively attempting to translate emerging knowledge about psychiatric genomics into clinically useful information to improve mental illness care and prevention. 5,18–20 In addition, clinicians are already encountering genomics findings in their practice, for example, when patients bring in their personal results from participating in a research study or, more commonly, from direct-to-consumer genetic testing. Within the next decade or two, genomics data will likely be ubiquitous in psychiatric practice.…”