The Relationship between Autism Spectrum Disorder and Tourette Syndrome in Childhood: An Overview of Shared Characteristics

Rizzo, Renata; Gulisano, Mariangela; Domini, Carla; Ferro, Maria Cristina; Curatolo, Paolo

doi:10.1055/s-0037-1602821

Cited by 7 publications

(2 citation statements)

References 81 publications

(84 reference statements)

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“…En muchos de estos casos, los tics coexisten con otros movimientos o comportamientos involuntarios y repetitivos como son las estereotipias y que forman parte de los criterios diagnósticos del TEA. Todo ello puede dificultar considerablemente el diagnóstico diferencial entre ambas entidades (8,9,10). En cuanto a la aportación de los estudios de farmacogenética; nos permiten determinar qué variantes genéticas afectan a las enzimas que metabolizan los fármacos y sus dianas.…”

Section: Conclusionesunclassified

Uniendo las piezas del puzzle: Paciente con Trastorno del Espectro del Autismo con sintomatología afectiva mayor y tics

Lamborena Ramos,

Sánchez Fernandez,

Sánchez Martínez

et al. 2024

Rev Psiquiatr Infanto-Juv

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Los trastornos del espectro del autismo (TEA) afectan la comunicación social con una presencia de intereses, conductas o lenguaje estereotipado y de anomalías sensoriales que comienzan en la primera infancia y continúan a lo largo de la vida. La prevalencia de TEA es del 1-2%, siendo la ratio chicos/chicas de 3:1. El 50-70% de los pacientes con TEA presentan comorbilidad con TDAH, 40% con trastornos de ansiedad, 11% con tics y un 10% con trastornos depresivos. Es fundamental considerar la posibilidad de que una persona con TEA sufra un cuadro depresivo y estar alerta ante los síntomas que puedan englobarse dentro de dicho trastorno, teniendo en cuenta que las personas con TEA tienen dificultades para detectar y expresar sus emociones. Es fundamental no considerar que todo lo que expresa conductual y cognitivamente está directamente relacionado al autismo. La depresión puede no manifestarse de la misma manera que en las personas con desarrollo típico. Los tics son movimientos repetitivos, no rítmicos y estereotipados, que resultan de las contracciones musculares súbitas, abruptas, involuntarias y no propositivas. El DSM-5 engloba los trastornos de tics dentro de los trastornos del neurodesarrollo y los integra dentro de los trastornos motores. La presencia de tics crónicos se ha descrito en el 9% de niños con TEA mientras que su asociación con el Síndrome de Tourette (ST) se daría en el 4.8% de los casos. En muchos casos, los tics coexisten con otros movimientos o comportamientos involuntarios y repetitivos como las estereotipias. Los pacientes con TEA y tics pueden cumplir los criterios diagnósticos de ST, lo que puede dificultar considerablemente su diagnóstico diferencial.

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Section: Conclusionesunclassified

Uniendo las piezas del puzzle: Paciente con Trastorno del Espectro del Autismo con sintomatología afectiva mayor y tics

Lamborena Ramos,

Sánchez Fernandez,

Sánchez Martínez

et al. 2024

Rev Psiquiatr Infanto-Juv

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show abstract

“…The defining characteristics of ASD are impaired social interaction and communication, repetitive behaviours, restricted interests, rigid routines and resistance to change, and GTS is defined by vocal and motor tics (e.g., meaningless sounds or words, eye blinking, body contortions, or clapping) (APA, 2013; Rizzo, Gulisano, Domini, C., & Curatolo, 2017; Robertson et al, 2017). There is also overlapping symptomatology between ASD and GTS including the occurrence of motor stereotypies, which are purposeless, repetitive behaviours (such as head nodding or arm flapping which differ to tics), sensory hypersensitivity, and ritualistic, compulsive behaviours associated with OCD (Barry, Baird, Lascelles, Bunton, & Hedderly, 2011; Rizzo et al, 2017; Ubni, Achinivu, Seri, & Cavanna, 2020). The striatum is thought to play a central role in the symptomology of ASD and GTS (Fuccillo, 2016; Lewis, Tanimura, Lee, & Bodfish, 2007; Robertson et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Immp2l knockdown increases stimulus-driven instrumental behaviour but does not alter goal-directed learning or neuron density in cortico-striatal circuits in a mouse model of Tourette syndrome and autism spectrum disorder

Leung

Merlin

Walker

et al. 2023

Preprint

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Cortico-striatal neurocircuits mediate goal-directed and habitual actions which are necessary for adaptive behaviour. It has recently been proposed that some of the core symptoms of autism spectrum disorder (ASD) and Gilles de la Tourette syndrome (GTS), such as tics and repetitive behaviours, may emerge because of imbalances in these neurocircuits. We have recently developed a model of ASD and GTS by knocking down Immp2l, a mitochondrial gene frequently associated with these disorders. The current study sought to determine whether Immp2l knockdown (KD) in male mice alters flexible, goal- or cue- driven behaviour using procedures specifically designed to examine response-outcome and stimulus-response associations, which underlie goal-directed and habitual behaviour, respectively. Whether Immp2l KD alters neuron density in cortico-striatal neurocircuits known to regulate these behaviours was also examined. Immp2l KD mice and wild type-like mice (WT) were trained on Pavlovian and instrumental learning procedures where auditory cues predicted food delivery and lever-press responses earned a food outcome. It was demonstrated that goal-directed learning was not changed for Immp2l KD mice compared to WT mice, as lever-press responses were sensitive to changes in the value of the food outcome, and to contingency reversal and degradation. There was also no difference in the capacity of KD mice to form habitual behaviours compared to WT mice following extending training of the instrumental action. However, Immp2l KD mice were more responsive to auditory stimuli paired with food as indicated by a non-specific increase in lever response rates during Pavlovian-to-instrumental transfer. Finally, there were no alterations to neuron density in striatum or any prefrontal cortex or limbic brain structures examined. Thus, the current study suggests that Immp2l is not necessary for learned maladaptive goal or stimulus driven behaviours in ASD or GTS, but that it may contribute to increased capacity for external stimuli to drive behaviour. Alterations to stimulus-driven behaviour could potentially influence the expression of tics and repetitive behaviours, suggesting that genetic alterations to Immp2l may contribute to these core symptoms in ASD and GTS. Given that this is the first application of this battery of instrumental learning procedures to a mouse model of ASD or GTS, it is an important initial step in determining the contribution of known risk-genes to goal-directed versus habitual behaviours, which should be more broadly applied to other rodent models of ASD and GTS in the future.

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Treatment Resistance in Tourette Syndrome

Rizzo

Gulisano

2018

Treatment Resistance in Psychiatry

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The Relationship between Autism Spectrum Disorder and Tourette Syndrome in Childhood: An Overview of Shared Characteristics

Cited by 7 publications

References 81 publications

Uniendo las piezas del puzzle: Paciente con Trastorno del Espectro del Autismo con sintomatología afectiva mayor y tics

Uniendo las piezas del puzzle: Paciente con Trastorno del Espectro del Autismo con sintomatología afectiva mayor y tics

Immp2l knockdown increases stimulus-driven instrumental behaviour but does not alter goal-directed learning or neuron density in cortico-striatal circuits in a mouse model of Tourette syndrome and autism spectrum disorder

Treatment Resistance in Tourette Syndrome

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