Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2017 Oct:188:42-49.
doi: 10.1016/j.schres.2016.12.023. Epub 2016 Dec 29.

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

Ehud Mekori-Domachevsky  1 , Yael Guri  1 , James Yi  2 , Omri Weisman  1 , Monica E Calkins  3 , Sunny X Tang  3 , Raz Gross  4 , Donna M McDonald-McGinn  5 , Beverly S Emanuel  5 , Elaine H Zackai  5 , Gil Zalsman  6 , Abraham Weizman  7 , Ruben C Gur  3 , Raquel E Gur  2 , Doron Gothelf  8
Affiliations
Multicenter Study

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

Ehud Mekori-Domachevsky et al. Schizophr Res. 2017 Oct.

Abstract

About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia. 22q11.2DS (N=171) and typically developing (TD; N=832) individuals were enrolled at both sites and further compared to two groups with intellectual disabilities: Williams syndrome (WS; N=21) in the Tel Aviv cohort and idiopathic developmental disabilities (IDD; N=129) in the Philadelphia cohort. Participants and their primary caregivers were interviewed with the Structured Interview for Prodromal Symptoms (SIPS) and psychopathologies were assessed using standardized tools; general cognitive abilities were assessed with the Computerized Neurocognitive Battery. Negative/disorganized subthreshold syndrome was significantly more common in the 22q11.2DS group than in the WS (OR=3.90, 95% CI=1.34-11.34) or IDD (OR=5.05, 95% CI=3.01-10.08) groups. The 22q11.2DS group had higher scores than the two intellectual disabilities groups on several SIPS negative items, including avolition and decreased expression of emotion. Overall, there were few significant correlations between level of cognitive deficits and severity of negative symptoms in 22q11.2DS and only in the Tel Aviv cohort. Our findings suggest that 22q11.2DS individuals at the age of risk for developing psychosis should be closely monitored for negative symptoms.

Keywords: Computerized Neurocognitive Battery (CNB); Negative symptoms; Structured Interview for Prodromal Symptoms (SIPS); Velocardiofacial syndrome; Williams syndrome.

PubMed Disclaimer

Conflict of interest statement

Conflict of interests

The authors declare having no conflict of interest.

Figures

Fig 1
Fig 1
Prevalence of negative/disorganized subthreshold psychotic syndrome in (A) 22q11.2 deletion syndrome (22q11.2DS) compared to Williams syndrome (WS) and typically developing (TD) controls in the Tel Aviv cohort, and in (B) 22q11.2DS compared to idiopathic developmental disabilities (IDD) and TD controls in the Philadelphia cohort. p < .001 for both cohorts.
See this image and copyright information in PMC

References

    1. Antshel KM, Fremont W, Roizen NJ, Shprintzen R, Higgins AM, Dhamoon A, Kates WR. ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. Journal of the American Academy of Child & Adolescent Psychiatry. 2006;45(5):596–603. - PubMed
    1. Association, A.P. Diagnostic and Statistical Manual of Mental Disorders (DSM-5®) American Psychiatric Pub; 2013.
    1. Calkins ME, Merikangas KR, Moore TM, Burstein M, Behr MA, Satterthwaite TD, Ruparel K, Wolf DH, Roalf DR, Mentch FD. The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative. Journal of Child Psychology and Psychiatry. 2015;56(12):1356–1369. - PMC - PubMed
    1. Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F. The psychosis spectrum in a young US community sample: findings from the Philadelphia Neurodevelopmental Cohort. World Psychiatry. 2014;13(3):296–305. - PMC - PubMed
    1. Campbell LE, Stevens A, Daly E, Toal F, Azuma R, Karmiloff-Smith A, Murphy DG, Murphy KC. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia. 2009;47(4):1034–1044. - PubMed

Publication types