Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

Abstract

The occurrence and co-occurrence of psychiatric disorders have been more frequently reported in people with Intellectual Disability (ID) than in the general population. The present study was aimed at verifying whether the psychiatric profile of individuals with ID is just a consequence of ID or derives from a specific genotype. The psychiatric profile of 112 individuals with Down syndrome (DS) and 85 with Williams syndrome (WS) was examined. The interactions between psychiatric symptom clusters and the effect of age were also investigated.Participants with WS had higher rates of psychiatric disorders, and, specifically, of Anxiety disorders and Psychosis than DS. However, the psychiatric profile changed by age, since Anxiety disorder was higher in individuals with WS compared to DS in young age, while Psychosis in old age. A relation between the occurrence of disorders, as Anxiety disorder and Mood Disorder, was found only in participants with WS. Moreover, distinct Anxiety and Behavior Disorder subtypes emerged between groups.Results indicate that the genetic etiology of ID differently affects the psychiatric characteristics of the groups and suggest the importance of a targeted psychiatric care for individuals with WS and DS.

Internalizing Psychiatric Symptoms in People with Mosaicism for Trisomy 21

“…Although these numbers do not represent diagnostic criteria, these findings are consistent with several study results finding elevated rates of depression and anxiety disorders in people from the larger Trisomy 21 population (e.g. mood disorders ranging from 5.0% - 15%, anxiety disorders ranging from 7 – 30% ( Baumer et al, 2023 ; Collacott et al, 1992 ; Mantry et al, 2007 ; Myers & Pueschel, 1991 ; Patti & Tsiouris, 2006 ; Raffaele et al, 2022 ; Rivelli et al, 2022 ; Vicari et al, 2016 ). The fact that the number of people scoring above the clinical cut-offs in this sample is substantially higher than reported diagnosed cases in other studies is to be expected.…”

Divergent presentation of anxiety in high-risk groups within the intellectual disability population

“…The Kiddie-Schedule of Affective Disorders (K-SADS) [ 32 ] is a semi-structured informant neuropsychiatric interview based on the DSM-5 [ 17 ]. The K-SADS is reported to have robust psychometric properties and high test-retest reliability [ 33 ] and has been used with children and adults with ID previously [ 34 , 35 ]. The K-SADS was used to determine current presence of symptomatology consistent with the following anxiety types: panic, agoraphobia, separation anxiety, social anxiety, selective mutism, specific phobias, generalised anxiety, obsessive compulsive, trauma and stressor-related disorders.…”

A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome

“…[WAIS R, ( 25 )]. The presence of minor psychiatric symptoms, mainly focusing on anxiety ( 9 , 26 ), was assessed as in Vicari et al ( 10 ), both by interviews of patients and patients' caregivers performed by an expert clinician and by the semi-structured psychiatric diagnostic interview “Kiddie-Sads-Present and Lifetime Version” (K-SADS-PL) ( 27 , 28 ). WS participants had no history of past neurological disorders or sensorial loss.…”

“…The neurocognitive profile of WS is characterized by a peculiar impairment in visuospatial construction with a relative preservation of concrete language skills, and an overall mild- to- severe intellectual disability ( 8 , 9 ). Individuals with WS usually display high sociability, excessive empathy, impulsivity, inattention, sadness, and depression as well as generalized anxiety disorder and hyperactivity disorder (ADHD) ( 10 ).…”