Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype

Abstract

Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefelter syndrome, Prader–Willi syndrome, Rett syndrome, Smith–Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic expression “social cognition” before summarizing the genotype, psychiatric phenotype, and non-social cognitive profile in each syndrome. Then, we offer a systematic review of the social cognitive abilities and the disturbed mechanisms they are likely associated with. We followed the PRISMA process, including the definition of the relevant search terms, the selection of studies based on clear inclusion, and exclusion criteria and the quality appraisal of papers. We finally provide insights that may have considerable influence on the development of adapted therapeutic interventions such as social cognitive training (SCT) therapies specifically designed to target the psychiatric phenotype. The results of this review suggest that social cognition impairments share some similarities across syndromes. We propose that social cognitive impairments are strongly involved in behavioral symptoms regardless of the overall cognitive level measured by intelligence quotient. Better understanding the mechanisms underlying impaired social cognition may lead to adapt therapeutic interventions. The studies targeting social cognition processes offer new thoughts about the development of specific cognitive training programs, as they highlight the importance of connecting neurocognitive and SCT techniques.

Characterizing daily-life social interactions in adolescents and young adults with neurodevelopmental disorders: a comparison between individuals with Autism Spectrum Disorders and 22q11.2 deletion syndrome

“…Contrary to our expectations, the three groups reported a similar subjective experience of aloneness. This is a major nding considering that, as previously said, social disinterest is typically considered to be a feature of both ASD and 22q11DS (e.g., 24,74). Taken together, the results of this study suggest that individuals with 22q11DS and ASD are not characterized by social withdrawal from a quantitative point of view (i.e.…”

Social skills and relationships in Turner syndrome

“…There are associated configural processing difficulties [54][55][56] . Facial emotion recognition, especially for fearful and angry faces, is impaired 51,54,55,57,58 ; but also 'shy', 'hostile' and 'anxious' 59 . When asked to focus their attention on facial features, eye-tracking experiments show that affected females tend to look at mainly at the mouth, and so fail to pick up cues given by the eye regions during these tasks 54 .…”

Oral disorders in children with Prader-Willi syndrome: a case control study

“…So PWS is a rare genetic disorder that can affect any race and sex [5,8,[12][13][14] and has an estimated prevalence of 3.1: 100000 live newborns in Europe [15]. With regard to the patient's eating habits, it is characterized by two stages.…”