TY - JOUR
T1 - Investigating social orienting in children with Phelan-McDermid syndrome and ‘idiopathic’ autism
AU - San José Cáceres, Antonia
AU - Wilkinson, Emma
AU - Cooke, Jennifer
AU - Baskett, Victoria
AU - Blackmore, Charlotte
AU - Crawley, Daisy Victoria
AU - Durkin, Allison
AU - Halpern, Danielle
AU - Núñez, María
AU - Siper, Page
AU - Murphy, Declan G.
AU - Foss-Feig, Jennifer
AU - Kolevzon, Alexander
AU - Loth, Eva
N1 - © 2024 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), https://creativecommons.org/licenses/by/4.0/
PY - 2024/12/30
Y1 - 2024/12/30
N2 - Background: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. Methods: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. Results: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. Conclusions: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. Trial registration: NA.
AB - Background: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction. Methods: This study used a semi-naturalistic task to explore orienting to social versus non-social stimuli and its relation to clinical features in individuals diagnosed with PMS, autism, and neurotypical children recruited in the United States and the United Kingdom. Results: At the group level, autistic and neurotypical children responded on average more often to social than non-social stimuli, while children with PMS responded similarly to both stimulus types. Both clinical groups responded significantly less often to social stimuli than neurotypical children. In addition, we found considerable variability in orienting responses within each group that were of clinical relevance. In the autism group, non-social orienting was associated with mental age, while in the PMS group social and non-social orienting were related to strength of autistic features. Conclusions: These findings do not support specific social motivation difficulties in either clinical group. Instead, they highlight the importance of exploring individual differences in orienting responses in Phelan-McDermid Syndrome in relation to autistic features. Trial registration: NA.
KW - Auditory social orienting
KW - Idiopathic autism
KW - PMS
KW - Phelan-McDermid syndrome
KW - Chromosome Deletion
KW - Humans
KW - Child, Preschool
KW - Chromosome Disorders/physiopathology
KW - Male
KW - United Kingdom
KW - Social Interaction
KW - Autistic Disorder/physiopathology
KW - Social Behavior
KW - Adolescent
KW - Female
KW - Chromosomes, Human, Pair 22
KW - Child
UR - http://www.scopus.com/inward/record.url?scp=85209630563&partnerID=8YFLogxK
U2 - 10.1186/s11689-024-09564-7
DO - 10.1186/s11689-024-09564-7
M3 - Article
C2 - 39563223
VL - 16
SP - 1
EP - 11
JO - Journal of Neurodevelopmental Disorders
JF - Journal of Neurodevelopmental Disorders
IS - 1
M1 - 64
ER -