Co-morbid tics and stereotypies: a systematic literature review.

BACKGROUND: Tics and stereotypies are childhood-onset repetitive behaviours that can pose significant diagnostic challenges in clinical practice. Both tics and stereotypies are characterised by a complex co-morbidity profile, however little is known about the co-occurrence of these hyperkinetic disorders in the same patient population. OBJECTIVE: This review aimed to assess the relationship between tics and stereotypies when these conditions present in co-morbidity. METHODS: We conducted a systematic literature review of original studies on co-morbid tics and stereotypies, according to the standards outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. RESULTS: Our literature search identified six studies of suitable sample size (n ≥ 40) presenting data on the association between tics and stereotypies in otherwise typically developing patients. A considerable proportion (23%) of patients diagnosed with stereotypic movement disorder present with co-morbid tics (range 18-43%). Likewise, the prevalence of primary stereotypies is increased in patients with tic disorders such as Tourette syndrome (8%, range 6-12%). DISCUSSION: Tics and stereotypies can often develop in co-morbidity. The association of tics and stereotypies in the same patient has practical implications, in consideration of the different treatment approaches. Future research should focus on the assessment and management of both conditions, particularly in special populations (e.g. patients with pervasive developmental disorders).

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome.

BACKGROUND: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. METHOD: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according to the presence or absence of interventions to reduce hand stereotypies. RESULTS: Information was acquired from 72 cases; 72.1% of individuals had received an intervention to reduce stereotypies at some point in their lives. An upper limb splint was the most common intervention. Age, locomotor and reaching function, diagnostic age, frequency and type of stereotypy, joint contractures and stereotypy-associated problems separated the presence or absence of a current or past intervention. CONCLUSIONS: Interventions for stereotypy-associated problems are important and there are several variables related to whether an intervention is received.

Possible tics diagnosed as stereotypies in patients with severe autism spectrum disorder: a video-based evaluation.

BACKGROUND: The association of stereotypies and tics is not rare in children with severe autism spectrum disorder (ASD). The differential diagnosis between stereotypies and tics in this patient population can be difficult; however, it could be clinically relevant because of treatment implications. METHODS: A total of 108 video recordings of repetitive behaviors in young patients with stereotypies in the context of ASD were reviewed by a movement disorders expert and a trainee, in order to assess the prevalence of possible co-morbid tics. The Modified Rush Videotape Rating Scale (MRVS) was used to rate tic frequency and severity. RESULTS: Out of 27 patients with stereotypies (24 males; mean age 14 years), 18 (67%) reported possible tics. The most frequently observed tics were eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. The mean MRVS score was 5, indicating mild tic severity. The only significant difference between patients with tics and patients without tics was the total number of stereotypies, which was higher in the subgroup of patients without tics (p = 0.01). CONCLUSIONS: Expert review of video-recordings of repetitive behaviors in young patients with ASD and stereotypies suggests the possibility of a relatively high rate of co-morbid tics. These findings need to be integrated with a comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations.

Sleep Problems and Trajectories of Restricted and Repetitive Behaviors in Children with Neurodevelopmental Disabilities.

Sleep problems are prevalent in children with neurodevelopmental disabilities and are associated with the expression of restricted and repetitive behaviors (RRBs). Children (n = 57) with autism spectrum disorder (ASD, n = 38) or developmental delay (DD, n = 19) participated in multiple assessments of intellectual ability, ASD symptoms, and RRBs (3 timepoints for ASD, 2 for DD). Sleep problems assessed at age 4 via parent report were associated with trajectories of higher-order RRBs (sameness/ritualistic/compulsive behaviors) from age 2-6 in the ASD group, and from age 2-4 in the DD group, even after controlling for intellectual ability, social-affective symptoms, and anxiety. Trajectories of stereotyped/restricted behaviors were unrelated to sleep problems. Sleep problems were associated with trajectories of higher-order (but not lower-order) RRBs in a transdiagnostic sample.

Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome: Developmental Trajectories in Toddlers Through Young Adults.

There is limited research on the trajectory of restricted and repetitive behaviors (RRBs) in fragile X syndrome (FXS), with previous studies only examining males and/or examining RRBs as a unitary construct rather than delineating subtypes of RRBs. Thus, we described the trajectory of five subtypes of RRBs in 153 males and females with FXS (aged 1-18 years) with repeated measurement over time (445 total assessments). Multilevel modeling was used to test age-related differences in RRB subtypes between males and females with FXS, controlling for nonverbal IQ. Results showed that lower-order Sensory-Motor behaviors decreased over time for both males and females, while there was no significant change in the higher-order RRBs. The trajectory between males and females differed for Self-Injury.

Nonepileptic, Stereotypical, and Intermittent Symptoms (NESIS) in Patients With Subdural Hematoma: Proposal for a New Clinical Entity With Therapeutic and Prognostic Implications.

BACKGROUND: Transient neurological symptoms (TNS) are frequent in patients with subdural hematomas (SDH) and many will receive a diagnosis of epilepsy despite a negative workup. OBJECTIVE: To explore if patients with TNS and a negative epilepsy workup (cases) evolved differently than those with a positive EEG (controls), which would suggest the existence of alternative etiologies for TNS. METHODS: We performed a single-center, retrospective, case-control study of patients with TNS post-SDH. The demographics and clinical and semiological features of cases and controls were compared. The outcome and response to antiepileptic drugs were also assessed and a scoring system developed to predict negative EEG. RESULTS: Fifty-nine patients with SDH-associated TNS were included (39 cases and 20 controls). Demographic characteristics were comparable in both groups. Dysphasia and prolonged episodes were associated with a negative EEG. Clonic movements, impaired awareness, positive symptomatology, complete response to antiepileptic drugs, and mortality were associated with a positive EEG. Using semiological variables, we created a scoring system with a 96.6% sensitivity and 100% specificity in predicting case group patients. The differences observed between both groups support the existence of an alternative etiology to seizures in our case group. We propose the term NESIS (NonEpileptic, Stereotypical, and Intermittent Symptoms) to refer to this subgroup and hypothesize that TNS in these patients might result from cortical spreading depolarization. CONCLUSION: We describe NESIS as a syndrome experienced by SDH patients with specific prognostic and therapeutic implications. Independent validation of this new entity is now required.

The SOFIA Study: Negative Multi-center Study of Low Dose Fluoxetine on Repetitive Behaviors in Children and Adolescents with Autistic Disorder.

Fluoxetine is a selective serotonin reuptake inhibitor (SSRI) that reduces obsessive-compulsive symptoms. There is limited evidence supporting its efficacy for repetitive behaviors (RRBs) in autistic spectrum disorder (ASD). We conducted a randomized controlled trial (RCT) of fluoxetine in 158 individuals with ASD (5-17 years). Following 14 treatment weeks (mean dose 11.8 mg/day), no significant differences were noted on the Children's Yale-Brown Obsessive Compulsive Scale; the proportion of responders was similar (fluoxetine: 36%; placebo: 41%). There were similar rates of AEs (e.g., insomnia, diarrhea, vomiting); high rates of activation were reported in both groups (fluoxetine: 42%; placebo: 45%). Overly cautious dosing/duration may have prevented attainment of a therapeutic level. Results are consistent with other SSRI RCTs treating RRBs in ASD.Trial Registration: clinicaltrials.gov Identifier: NCT00515320.

Motor coordination impairment in children with autism spectrum disorder: a pilot study using Movement Assessment Battery for Children-2 Checklist.

BACKGROUND: Some research suggests that children with autism spectrum disorder (ASD) experience diverse motor difficulties that appear closely related to the severity of symptomatology, including repetitive behaviors. Therefore, motor assessment in ASD has crucial relevance in order to plan a specific intervention. The aim of this study is to assess and describe the motor functioning in school-aged children with ASD and to evaluate the relationship between their motor profile and clinical features. METHODS: The Movement Assessment Battery for Children - second edition (M-ABC2) Checklist was administered to twenty children with ASD, aged between 5 and 13.5 years. The motor profile of the sample was analyzed and then the relationship between the motor functioning and the clinical characteristics of subjects (age, treatment duration, intellectual functioning and repetitive behaviors) was investigated. RESULTS: Seventy percent of our sample has motor difficulties, especially in aiming and catching skills, balance and manual dexterity. Poorer performance was related to a higher frequency and intensity of repetitive and stereotyped behaviors. CONCLUSIONS: Motor difficulties in children with ASD affect specific skills that imply the ability to integrate the perception with the action for anticipating and controlling the movement in a well-coordinated way. This result, along with the finding of an increased severity of repetitive and stereotyped behaviors in these children, emphasizes the close link between motor and "core" symptoms in ASD.

Prevalence and Risk-Markers of Self-Harm in Autistic Children and Adults.

Self-harm is purportedly common in autistic individuals, but under-researched, particularly in younger samples and those without intellectual disability. This study aimed to describe prevalence, profile and correlates of self-harm in autistic individuals without impairments in adaptive functioning. Parents of autistic participants (n = 83) completed questionnaires regarding the presence/topography of self-harm, demographic characteristics, autism severity, age of diagnosis, affect, activity levels and repetitive behaviour. 24.10% of participants engaged in self-harm. Self-harm was associated with significantly higher levels of impulsivity, over-activity, negative affect, compulsive behaviour and insistence on sameness. Low mood and overactivity/impulsivity predicted the presence of self-harm, with the model correctly classifying 82.9% of cases. Findings highlight a role for impaired behavioural inhibition and low mood in the aetiological mechanisms underpinning self-harm in autism.

Validating the Repetitive Behavior Scale-Revised for Children in China Aged 3 to 8 with Autism Spectrum Disorder.

Research on the repetitive behavior of children diagnosed with autism spectrum disorder (ASD) has recently gained scholarly attention. Restricted and repetitive behavior (RRB) is a core ASD symptom of various patterns and high prevalence. The Repetitive Behavior Scale-Revised (RBS-R) is a standard questionnaire used to assess RRB in individuals with ASD. This study collected data from 163 Chinese children aged 3-8 with ASD to analyze the validity and reliability of the RBS-R. Results showed that the original tested items were adaptable to the Chinese cultural environment when treating such disorders. A confirmatory factor analysis was applied to the structuring models, indicating that a 5-factor model was more suitable for evaluating RRB in this context.

Atypical body movements during night in young children with autism spectrum disorder: a pilot study.

Children with autism spectrum disorder (ASD) reportedly suffer from sleep problems at a higher rate than typically developing (TD) children. Several previous studies have reported differences in sleep indices (e.g., sleep latency) in children with ASD. However, no previous studies have focused specifically on the time course of body movements. In the present study, we investigated the time course of body movements in young TD children and young children with ASD as well as the relationship between body movements during night and social ability. Seventeen TD children and 17 children with ASD participated in this study (5 to 8 years old). We used an accelerometer attached to the waist to record movements during night and measured the average time course of body movements for 3 nights. Our results demonstrated that the rate of body movement 2 to 3 hours after the onset of body stillness was higher in children with ASD than in TD children. In addition, the higher rate of body movement at 0.5 to 1 hour after the onset of body stillness was associated with a lower social ability in the children with ASD. Our results suggested that the time course of body movements is an objective behavioural index for young children with ASD.

Tics and stereotypies: A comparative clinical review.

Tics and stereotypies are the most common pathological repetitive complex motor behaviors occurring during the neurodevelopmental period. Although they may appear transiently during development without acquiring a pathological status, when they become chronic they may be distressing, socially impairing, or even, in the case of malignant tics, potentially physically harmful. Despite a certain similarity in their phenomenology, physicians should be able to distinguish them for their different variability over time, topographical distribution, association with sensory manifestations, and relationship with environmental triggers. The complex phenomenology of tics and stereotypies is constantly enriched by the characterization of novel variants, e.g. tics triggered by auditory stimuli in association with misophonia and stereotypies associated with intense imagery activity. Their pathophysiology remains partially elusive, but both animal model and brain imaging studies confirm the involvement of all the three major loops (sensorimotor, associative and limbic) within the cortico-basal ganglia circuitry. From a management perspective, the greatest advances witnessed in the last decade involve the diffusion of behavioral strategies (e.g. habit reversal training or response interruption and redirection), including the development of protocols for telehealth on online training in order to optimise access. In the context of severe tics, e.g. in refractory Tourette syndrome, there is increasing experience with deep brain stimulation of the intralaminar thalamic nuclei or the globus pallidus internus, although more research is needed to fine tune target choice and stimulation setting definition.

A Feasibility Study of a Wearable Real-Time Notification System for Self-Awareness of Body-Rocking Behavior.

Wearable sensors have been shown to be effective for promoting self-awareness, wellness and re-education. In this work, we perform a preliminary study analyzing the real-time detection and annotation of body-rocking behavior in individuals, which is a type of Stereotypical Motor Movement (SMM). We develop a platform for real-time annotation and detection using wireless inertial sensors and an embedded device. The annotations are analyzed in order to study the duration and frequency of the behavior, and they are corrected offline in order to better understand any offsets in the real-time annotation procedure. Finally, we show the feasibility of a real-time feedback system based on a proof of concept algorithm and the necessary computation resources to execute it.

Brief Report: Sex Differences in ASD Diagnosis-A Brief Report on Restricted Interests and Repetitive Behaviors.

Previous research found repetitive and restricted behaviors (RRBs) were less predictive of Autism Spectrum Disorder (ASD) in females, indicating the diagnostic construct may not adequately describe RRB presentations in females. This mixed-methods study investigated the female presentation of RRBs, namely restricted interests, in a clinic sample of 125 participants (n = 40 female; ages 2-83 years; 75 ASD). RRB severity did not differ between sexes, t = 1.69, p = 0.094, though male participants scored higher on the Restricted Behavior subscale. Qualitatively, females demonstrated a narrower range of restricted interests and expressed them in a socially oriented manner compared to males. The results suggest unique quantitative and qualitative sex differences in RRB profiles that could shed light on the female ASD phenotype.

Assessing the heterogeneity of autism spectrum symptoms in a school population.

The aim of the present study was to assess whether the nature of the main autistic features (i.e., social communication problems and repetitive and restrictive patterns) are better conceptualized as dimensional or categorical in a school population. The study was based on the teacher ratings of two different age groups: 2,585 children between the ages of 10 and 12 (Primary Education; PE) and 2,502 children between the ages of 3 and 5 (Nursery Education; NE) from 60 mainstream schools. The analyses were based on Factor Mixture Analysis, a novel approach that combines dimensional and categorical features and prevents spurious latent classes from appearing. The results provided evidence of the dimensionality of autism spectrum symptoms in a school age population. The distribution of the symptoms was strongly and positively skewed but continuous; and the prevalence of high-risk symptoms for autism spectrum disorders (ASD) and social-pragmatic communication disorder (SCD) was 7.55% of NE children and 8.74% in PE. A categorical separation between SCD and ASD was not supported by our sample. In view of the results, it is necessary to establish clear cut points for detecting and diagnosing autism and to develop specific and reliable tools capable of assessing symptom severity and functional consequences in children with ASD. Autism Res 2018, 11: 979-988. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The results of the present study suggest that the distribution of autism spectrum symptoms are continuous and dimensional among school-aged children and thus support the need to establish clear cut-off points for detecting and diagnosing autism. In our sample, the prevalence of high-risk symptoms for autism spectrum disorders and social-pragmatic communication disorder was around 8%.

Stereotypic Movement Disorders.

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.

[Movement disorders in children and adolescents].

Tourette syndrome, obsessive-compulsive disorder, ticlike compulsions and motoric stereotypies are all movement disorders, which start in childhood and can be difficult to differentiate. In this article, we have outlined the most important focus points on how to differentiate the conditions in order to diagnose correctly and in order to refer to proper treatment.

Leg stereotypy syndrome: phenomenology and prevalence.

OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia. RESULTS: There were 92 participants enrolled in this study; 7% of 57 individuals in the GP group and 17% of those in the MD group met the diagnostic criteria for LSS. The mean age of individuals with LSS was 44.5 (±11.9) years and mean age at onset of LSS was 17.5 (±5.7) years. In half of the individuals, the 'shaking' involved predominantly one leg. All had a positive family history of similar disorder and none had diurnal variation. The seven-item Leg Stereotypy Syndrome Questionnaire was developed as a screening tool to aid in differentiating LSS from other movement disorders. CONCLUSIONS: LSS is a common condition, occurring in up to 7% of otherwise healthy individuals, and it is even more common in patients with hyperkinetic movement disorders. Although it phenomenologically may overlap with other stereotypic disorders, we argue that it is a distinct, familial, neurological syndrome.