Table 1.
Overview of results from trials, cross‐sectional, and cohort studies
| Study | Publication type | Research design | Study objective | Population | Sample size (N) | Antipsychotic(s) | Results | ||
|---|---|---|---|---|---|---|---|---|---|
| 22q11.2DS group | Comparison group | 22q11.2DS group | Comparison group | ||||||
|
Butcher et al. (2013), Butcher et al. (2014), Butcher, Fung, Fitzpatrick, Guna, Andrade, Lang, et al. (2015), and Butcher, Fung, Fitzpatrick, Guna, Andrade, Lang, & Chow (2015)a |
Abstracts (3x) + article | Retrospective | Assess whether patients 22q11.2DS schizophrenia show a different response profile to clozapine than those with idiopathic schizophrenia | Psychosis | Idiopathic psychosis | 20 | 20 | Clozapine | Half of the 22q11.2DS group (n = 10, 50%) experienced at least one serious adverse; event compared with none of the idiopathic group (gender‐adjusted OR = 16.5, 95% CI 1.8–149.8), comprising myocarditis (n = 1, 5%), severe neutropenia (n = 3, 15%) and seizures (n = 8, 40%). Seizures occurred at lower doses (250–400 mg) in 22q11.2DS patients than in idiopathic schizophrenia, despite anticonvulsants in a significant proportion of the patients |
| Dori, Green, Weizman, and Gothelf (2017) | Article | Retrospective | Evaluate the effectiveness and safety of antipsychotic and antidepressant medications in individuals with 22q11.2DS and psychiatric comorbidity | Psychosis | – | 19 (35 trials)b | – | Risperidone/olanzapine/quetiapine | Akathisia/parkinsonism (n = 9, 25.7%), weight gain (n = 5, 14%), drowsiness (n = 3, 8.7%), decreased appetite (n = 3, 8.7%), convulsions (n = 2, 5.7%), hyperprolactinemia and menstrual irregularities (n = 2, 5.7%), hyper salivation (n = 1, 2.9%), tics (n = 1, 2.9%), QT prolongation (n = 1, 2.9%), elevated liver enzymes (n = 1, 2.9%) |
| Gothelf (2015)c | Abstract | Prospective | Assess the safety and effectiveness of psychiatric medications in 22q11.2DS | Children and young adults | – | 86 | – | n.s. | Similar type and frequency of adverse events as in those reported in non‐22q11.2DS individuals using antipsychotics |
| Gothelf et al. (2015)c | Abstract | Prospective | Identify the phenotypic markers that are unique to 22q11.2DS and those associated with psychosis‐risk. Assess the safety and effectiveness of psychiatric medications in 22q11.2DS | Children and young adults | Children and young adults with Williams syndrome | 100 | 50 | n.s. | Similar type and frequency of adverse events as in those reported in non‐22q11.2DS individuals using antipsychotics |
| Kawano, Oshimo, Hasegawa, and Ishigooka (2014) | Abstract | Open‐label trial | Assess the safety and efficacy of aripiprazole in 22q11.2DS ASD | ASD | – | 3 | – | Aripiprazole | No adverse effects |
| Verhoeven and Egger (2015) | Article | Retrospective and prospective | Assess the efficacy of antipsychotics in 22q11.2DS and propose an appropriate psychopharmacological strategy | Adult and adolescent patients with psychosis | – | 28 | – | Clozapine/quetiapine/risperidone/haloperidol/aripiprazole | No major side effects |
| Voll et al. (2017) | Article | Cross‐sectional | Characterize the prevalence of and contributing factors to adult obesity 22q11.2DS | Adult patients | – | 207 | – | n.s. | Results for psychotropic medication use (including but not exclusively antipsychotics) and obesity: OR = 2.60 |
| Wither et al. (2017) | Article | Retrospective | Investigate the prevalence and characteristics of seizures and epilepsy in adult 22q11.2DS | Adult patients | – | 202 | – | n.s. | 32 (15.8%) had a documented history of seizures. Of these 145 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use |
Abbreviations: ASD, autism spectrum disorder; mg, milligram, n.s., not specified; −, not present.
a
These articles described the same study population and are therefore reported together here.
b
This study describes 19 patients that received a total of 35 trials with an antipsychotic.
c
These articles describe partly overlapping cohorts.