Traduction: G.M.
Front Neurosci. 2017 Mar 29;11:171. doi: 10.3389/fnins.2017.00171. eCollection 2017.
Motor Stereotypies: A Pathophysiological Review
Péter Z1, Oliphant ME2, Fernandez TV3.
Author information
- 1
- Department of Biology, Sewanee: The University of the SouthSewanee, TN, USA; Department of Chemistry, Sewanee: The University of the SouthSewanee, TN, USA.
- 2
- Yale Child Study Center, Yale University School of Medicine New Haven, CT, USA.
- 3
- Department of Psychiatry, Yale Child Study Center, Yale University School of Medicine New Haven, CT, USA.
Abstract
Les stéréotypes motrices sont des mouvements rythmés, répétitifs et rythmés avec un début typique dans la petite enfance. Bien
que le plus souvent décrits chez les enfants avec un diagnostic de trouble du
spectre de l'autisme (TSA) et un handicap intellectuel (ID), les
stéréotypies peuvent également se manifester sans retard de développement
et persévérer à l'âge adulte. Les
stéréotypes sont souvent perturbatrices et nocives, à la fois
physiquement et socialement, et des traitements efficaces fondés sur des
preuves font défaut. Cela peut être attribué, en partie, à notre connaissance incomplète du risque biologique et environnemental sous-jacent. Plusieurs
études impliquent divers neurotransmetteurs, circuits cérébrales, loci
anatomiques et influences environnementales pré et post-natales dans
l'apparition de la stéréotypie et la gravité des symptômes. Cependant,
il existe peu de points de convergence parmi un nombre relativement
restreint d'études, ce qui indique qu'une plus grande recherche est
nécessaire pour confirmer les bases de risque sous-jacentes. Il
est particulièrement important de noter que le manque d'études
génétiques publiées sur les stéréotypies, en dépit de la preuve des
tendances de l'hérédité mendélienne chez certaines familles. Mettre
l'accent sur les études futures sur les enfants au développement typique avec des stéréotypies motrices primaires peut être une approche utile
pour minimiser l'hétérogénéité biologique, environnementale et génétique
potentielle qui pourrait théoriquement entraver des résultats
cohérents. En fin de compte, une compréhension plus approfondie de la biologie
sous-jacente et des facteurs de risque des stéréotypies motrices nous
rapprochera de thérapies ciblées plus efficaces qui allègeront les
souffrances chez les enfants touchés.
Motor stereotypies are common, repetitive, rhythmic movements with typical onset in early childhood. While most often described in children with autism spectrum disorder (ASD) and intellectual disability (ID), stereotypies can also present without developmental delay and persist into adulthood. Stereotypies are often disruptive and harmful, both physically and socially, and effective evidence-based treatments are lacking. This can be attributed, in part, to our incomplete knowledge of the underlying biological and environmental risk. Several studies implicate various neurotransmitters, brain circuits, anatomical loci, and pre- and post-natal environmental influences in stereotypy onset and symptom severity. However, there are few points of convergence among a relatively small number of studies, indicating that more research is needed to confirm the underlying bases of risk. Of particular note is the lack of published genetic studies of stereotypies, despite evidence for Mendelian inheritance patterns in some families. Focusing future studies on typically-developing children with primary motor stereotypies may be a useful approach to minimize potential biological, environmental, and genetic heterogeneity that could theoretically hinder consistent findings. Ultimately, a deeper understanding of the underlying biology and risk factors for motor stereotypies will lead us closer to more effective targeted therapies that will alleviate suffering in affected children.
Motor stereotypies are common, repetitive, rhythmic movements with typical onset in early childhood. While most often described in children with autism spectrum disorder (ASD) and intellectual disability (ID), stereotypies can also present without developmental delay and persist into adulthood. Stereotypies are often disruptive and harmful, both physically and socially, and effective evidence-based treatments are lacking. This can be attributed, in part, to our incomplete knowledge of the underlying biological and environmental risk. Several studies implicate various neurotransmitters, brain circuits, anatomical loci, and pre- and post-natal environmental influences in stereotypy onset and symptom severity. However, there are few points of convergence among a relatively small number of studies, indicating that more research is needed to confirm the underlying bases of risk. Of particular note is the lack of published genetic studies of stereotypies, despite evidence for Mendelian inheritance patterns in some families. Focusing future studies on typically-developing children with primary motor stereotypies may be a useful approach to minimize potential biological, environmental, and genetic heterogeneity that could theoretically hinder consistent findings. Ultimately, a deeper understanding of the underlying biology and risk factors for motor stereotypies will lead us closer to more effective targeted therapies that will alleviate suffering in affected children.
- PMID: 28405185
- PMCID:PMC5370241
- DOI: 10.3389/fnins.2017.00171
