Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders

V Perry, K Ellis, J Moss, SR Beck, G Singla… - Research in …, 2022 - Elsevier
Background Individuals with genetic syndromes show unique profiles of repetitive
behaviours and restricted interests (RRBs). The executive dysfunction account of RRBs …

Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes

L Giani, G Michelini, PF Ajmone, S Scaini… - Research in …, 2022 - Elsevier
Background and aim There is mounting evidence highlighting that Cornelia de Lange
Syndrome (CdLS) and Rubinstein-Taybi Syndrome's (RSTS) behavioral phenotypes are not …

Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome

R Ng, J O'Connor, D Summa, AD Kline - Orphanet journal of rare diseases, 2024 - Springer
Abstract Background Cornelia de Lange (CdLS) is a rare genetic disorder that affects most
body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the …

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal …

PF Ajmone, L Giani, B Allegri… - American Journal of …, 2023 - Wiley Online Library
Several changes in the behavioral phenotype arise with the growth of children affected by
Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However …

Behavioral Phenotypes and Genetic Syndromes

PF Ajmone, B Allegri, F Brasca, F Bruschi… - … of Psychopathology in …, 2024 - Springer
The term behavioral phenotype refers to a cluster of motor, neuropsychological, and
behavioral manifestations including distinctive social, linguistic, and cognitive features often …