Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

Barbara Trimarco; Filippo Manti; Francesca Nardecchia; Sergio Melogno; Mara Testa; Giovanni Meledandri; Claudia Carducci; Roberta Penge; Vincenzo Leuzzi

doi:10.1016/j.ymgmr.2020.100577

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria

Mol Genet Metab Rep. 2020 Mar 9:23:100577. doi: 10.1016/j.ymgmr.2020.100577. eCollection 2020 Jun.

Authors

Barbara Trimarco¹, Filippo Manti¹, Francesca Nardecchia¹, Sergio Melogno¹, Mara Testa¹, Giovanni Meledandri², Claudia Carducci³, Roberta Penge¹, Vincenzo Leuzzi¹

Affiliations

¹ Department of Human Neuroscience, "Sapienza" University of Rome, Via dei Sabelli 108, 00185 Rome, Italy.
² Department of Human Science, "Università degli Studi Guglielmo Marconi", Via Plinio 44, 00193 Rome, Italy.
³ Department of Experimental Medicine, Sapienza University of Rome, Viale del policlinico 155, 00161 Rome, Italy.

Abstract

Introduction: Influential theories maintain that some of Autism Spectrum Disorder (ASD) core symptoms may arise from deficits in executive functions (EF). EF deficits are also considered a neuropsychological marker of early treated individuals with phenylketonuria (PKU). Aims of this study were: to verify the occurrence and patterns of specific EF impairments in both clinical groups; to explore the coexistence of EF alterations with adaptive, behavioral and emotional problems in each clinical condition.

Material and methods: We assessed EF, adaptive, behavioral and emotional profile in 21 participants with ASD, 15 early treated PKU individuals, comparable for age and IQ, and 14 controls, comparable for age to the clinical groups (age range: 7-14 years).

Results: ASD and PKU participants presented two different, but partially overlapping patterns of EF impairment. While ASD participants showed a specific deficit in cognitive flexibility only, PKU individuals showed a more extensive impairment in EF with a weaker performance in two core EF domains (inhibition, cognitive flexibility) as compared to healthy controls. Psychological and adaptive profile was typical in PKU participants, while ASD participants experienced behavioral (externalizing symptoms), emotional (internalizing symptoms) and adaptive disorders (general, practical, social domains).

Conclusions: Present results support the view of a relative disengagement of adaptive and emotional-behavioral profile with respect to EF skills and suggest that other dysfunctions contribute to the multidimensional phenotype of ASD participants.

Keywords: Adaptive behavior; Autism spectrum disorder; Executive functions; Internalizing and externalizing symptoms; Phenylketonuria.