Stereotypic Movement Disorders

https://doi.org/10.1016/j.spen.2017.12.004Get rights and content

This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics. The pathophysiology of stereotypies involves fronto-striatal overactive dopaminergic pathways, and underactive cholinergic and GABAergic inhibitory pathways. No genetic markers have been identified despite a clear genetic predisposition. Behavioral therapy is the principle treatment. Future studies will focus on identifying genetic markers, and on better understanding the functional and structural neurobiology of these movements.

Introduction

Stereotypies are described as repetitive and purposeless movements that occur in a specific pattern and are distractible.1 These movements tend to occur more at times of increased stress, anxiety, excitement, focused concentration, or boredom.1, 2 Simple motor stereotypies (aka physiological stereotypies or common behaviors) occur commonly in both children and adults. These include leg shaking, hair twirling, and nail biting. Complex motor stereotypies are more complex movements such as hand flapping, finger or arm wiggling, mouth opening, orofacial movements, and body rocking.1 Alterations in breathing patterns or vocalizations may also accompany the movements. Both types of stereotypies, simple and complex, are also divided into 2 categories as either primary or secondary, depending on the presence of an additional neurologic or psychiatric diagnosis.3 Table 1 outlines common examples of stereotypies.

Section snippets

Description and Prevalence

Children with stereotypies often report that these movements are a pleasant experience, and may feel frustrated when parents and teachers interrupt them.4 One child described her movements as follows, “it just feels right…sometimes I hold my hands by my side to stop the movements but it doesn’t feel nice.”5 One theory is that the movements are a way of physically expressing or dealing with excitement, or can be a way of coping with boredom (ie, in both understimulating and overstimulating

Assessment of Children With Stereotypies

There are 3 main care-giver based rating scale questionnaires that can be helpful in evaluating stereotypies in children: (1) Motor Stereotypy Severity Scale (see Table 2 for description20) broken down into 3 components: Stereotypy Severity Scale motor (number, frequency, intensity, and interference), SS impairment to characterize global impairment, and a Linear Analog Scale 21, 22 (2) Repetitive Behavior Scale (see Table 3 for description23, 24) with 6 subscales to assess for stereotyped

Differential Diagnosis

A frequent question from referring physicians to pediatric neurology clinics is whether these movements could represent a seizure or a motor tic. Through a careful history, review of home videos, and observation in the clinical setting, these diagnoses can generally be distinguished from one another as described.

Parents and teachers often raise concerns that stereotypies could be seizures. The semiology of the movements typically points toward the appropriate diagnosis. Distinguishing features

Pathophysiology

Stereotypies are associated with dysfunction of the prefronto-corticobasal ganglia circuits, or cortico-striatal-thalamo-cortical pathways.15, 30 They are clearly linked to dopaminergic overstimulation given that they are a side effect from dopaminergic drugs such as amphetamine, cocaine, and levodopa.31 Similarly, lesioning dopaminergic input to striatal neurons prevents stimulant-induced stereotopy.32 Inhibitory cholinergic interneurons in these regions also play a role in modulating and

Management

The majority of stereotypies does not cause significant physical or emotional distress, and often do not require intervention. For stereotypies that are bothersome, habit reversal therapy can be successful in reducing their severity and frequency.42 In the classroom or home setting, response interruption and redirection when performed regularly and consistently can also be effective.43 A recent program aimed at DVD-based parent-delivered behavioral therapy showed reduction in stereotypies by

Conclusion

Motor stereotypies are relatively common in childhood and can occur with or without additional comorbidities, or in the setting of additional neurodevelopmental disorders. Complex motor stereotypies tend to present in early childhood and often do not change over a person’s lifetime. Current understanding of pathophysiology suggests involvement in dopaminergic pathways, and to some extent GABAergic and cholinergic pathways, in the prefronto-corticobasal ganglia circuits and

References (48)

  • E. Fazzi et al.

    Stereotyped behaviours in blind children

    Brain Dev

    (1999)
  • P.H. Kelly et al.

    Amphetamine and apomorphine responses in the rat following 6-OHDA lesions of the nucleus accumbens septi and corpus striatum

    Brain Res

    (1975)
  • W.R. Kates et al.

    Frontal white matter reductions in healthy males with complex stereotypies

    Pediatr Neurol

    (2005)
  • E.M. Mahone et al.

    Anomalous putamen volume in children with complex motor stereotypies

    Pediatr Neurol

    (2016)
  • T. Fernandez

    Genetic investigations of a core phenotype for autism spectrum disorder

    J Am Acad Child Adolesc Psychiatry

    (2016)
  • A. Tan et al.

    The characterization and outcome of stereotypical movements in nonautistic children

    Mov Disord

    (1997)
  • R.D. Freeman et al.

    Stereotypic movement disorder: Easily missed

    Dev Med Child Neurol

    (2010)
  • D. Guess et al.

    Emergence and maintenance of stereotypy and self-injury

    Am J Ment Retard

    (1991)
  • V. De Lissovoy

    Head banging in early childhood. A study of incidence

    J Pediatr

    (1961)
  • S.S. Chebli et al.

    Prevalence of stereotypy in individuals with developmental disabilities: A systematic review

    Rev J Autism Dev Disord

    (2016)
  • C. Oakley et al.

    Primary complex motor stereotypies in older children and adolescents: Clinical features and longitudinal follow-up

    Pediatr Neurol

    (2015)
  • M.J. Edwards et al.

    Stereotypies: a critical appraisal and suggestion of a clinically useful definition

    Mov Disord

    (2012)
  • H. Tröster et al.

    Prevalence and situational causes of stereotyped behaviors in blind infants and preschoolers

    J Abnorm Child Psychol

    (1991)
  • Motor Stereotypy Severity Scale. Johns Hopkins Medicine Neurology. Available at:...
  • Cited by (32)

    • Examining the role of attention problems in motor stereotypy in children with autism spectrum disorder

      2023, Research in Autism Spectrum Disorders
      Citation Excerpt :

      There seems to be a relationship between these factors as an overwhelming environment can lead to sensory overload and overwhelming thoughts which in turn lead to the excess of emotion that triggers stereotypy (Kapp et al., 2019). Indeed, both primary and secondary motor stereotypy have been associated with or enhanced by emotional and internal states such as excitement, daydreaming, anxiety, or boredom (Goldman et al., 2008; Harris et al., 2008, 2016; Machenzie, 2018; Mahone et al., 2004; Marino & Hedderly, 2019; Muthugovindan & Singer, 2009; Singer, 2009), and researchers have shown that certain types of motor stereotypy are associated with cardiovascular patterns of acceleration and deceleration that were unrelated to the physical demands of the movements (Heathers et al., 2019), which could suggest that the emotional state connected to the physical movements contributes to the increase in cardiovascular activity seen in motor stereotypy. Previous research has shown that children with ASD score significantly higher than children with ADHD and typically developing children on the Anxious/Depressed and Withdrawn subscales of the CBCL (Ooi et al., 2011) and that youth with autism’s Anxious/Depressed and Withdrawn subscale scores are significantly correlated with measures of anxiety and depression, but not autism related symptoms (Pandolfi et al., 2014), suggesting that these CBCL subscales are good at measuring anxiety and depression that is independent of autism symptoms but still significantly associated with autism over other conditions.

    • Mechanisms and Genetics of Neurodevelopmental Cognitive Disorders

      2021, Mechanisms and Genetics of Neurodevelopmental Cognitive Disorders
    • Abnormal Repetitive Behaviors and Self-Mutilations in Small Mammals

      2021, Veterinary Clinics of North America - Exotic Animal Practice
      Citation Excerpt :

      Cerebral plasticity is a process by which cerebral connections established in early life can change based on the environment. Although no specific gene had been linked to stereotypies in humans, it was found that up to 40% of affected children have a family member with stereotypies.10 Similarly, a genetic transmission of the fur-chewing behavior has been documented in chinchillas.17

    • Seizure mimics in children: An age-based approach

      2020, Current Problems in Pediatric and Adolescent Health Care
      Citation Excerpt :

      Many children continue to have primary complex motor stereotypies into adulthood, though most reported an overall improvement in frequency and severity.29 Medications for secondary stereotypies such as fluoxetine, risperidone and clomipramine have been effective.26 Semiology: Dystonic movements are rhythmic movements from sustained or intermittent muscle contractions.30

    View all citing articles on Scopus
    View full text