Subarachnoid hemorrhage in C57BL/6J mice increases motor stereotypies and compulsive-like behaviors.

OBJECTIVE: Long-term behavioral, mood, and cognitive deficits affect over 30% of patients with subarachnoid hemorrhage (SAH). The aim of the present study was to examine the neurobehavioral outcomes following endovascular perforation induced SAH in mice. METHODS: C57BL/6 J (B6) mice were exposed to endovascular perforation induced SAH or control surgery. Three weeks later, mice received a series of behavioral tests, e.g. motor function, stereotypy, learning, memory, behavioral flexibility, depression and anxiety. The immunohistologic experiment examined neuronalloss in the cortex following SAH. RESULTS: SAH mice exhibited increased marble burying and nestlet shredding compared to that of control mice. Although SAH did not affect memory, learning or reversal learning,mice displayed greater overall object exploration in the novel object recognition test, as well as elevated perseveration during probabilistic reversal learning.In the forced swim and open field tests, SAH mice performed comparably to that of control mice. However, SAH mice exhibited an increased frequency in 'jumping' behavior in the open field test. Histological analyses revealed reduced neuron density in the parietal-entorhinal cortices of SAH mice on the injured side compared to that of control mice. DISCUSSION: The findings suggest that parietal-entorhinal damage from SAH increases stereotyped motor behaviors and 'compulsive-like' behaviors without affecting cognition (learning and memory) or mood (anxiety and depression). This model can be used to better understand the neuropathophysiology following SAH that contributes to behavioral impairments in survivors with no gross sensory-motor deficits.

Gentle rocking movements during sleep in the elderly.

Vestibular stimulation in the form of rocking movements could be a promising non-pharmacological intervention for populations with reduced sleep quality, such as the elderly. We hypothesized that rocking movements influence sleep by promoting comfort. We assessed whether gentle rocking movements can facilitate the transition from wake to sleep, increase sleep spindle density and promote deep sleep in elderly people. We assessed self-reported comfort using a pilot protocol including translational movements and movements along a pendulum trajectory with peak linear accelerations between 0.10 and 0.20 m/s2 . We provided whole-night stimulation using the settings rated most comfortable during the pilot study (movements along a pendulum trajectory with peak linear acceleration of 0.15 m/s2 ). Sleep measures (polysomnography) of two baseline and two movement nights were compared. In our sample (n = 19; eight female; mean age: 66.7 years, standard deviation: 3 years), vestibular stimulation using preferred stimulation settings did not improve sleep. A reduction of delta power was observed, suggesting reduced sleep depth during rocking movements. Sleep fragmentation was similar in both conditions. We did not observe a sleep-promoting effect using settings optimized to be comfortable. This finding could imply that comfort is not the underlying mechanism. At frequencies below 0.3 Hz, the otoliths cannot distinguish tilt from translation. Translational movement trajectories, such as used in previous studies reporting positive effects of rocking, could have caused sensory confusion due to a mismatch between vestibular and other sensory information. We propose that this sensory confusion might be essential to the sleep-promoting effect of rocking movements described in other studies.

Comparing response blocking and response interruption/redirection on levels of motor stereotypy: Effects of data analysis procedures.

Autism spectrum disorder (ASD) is marked by deficits in social communication and the presence of restrictive and/or repetitive behaviors or interests. Motor stereotypy is a form of repetitive behavior that is common in ASD. Response Interruption and Redirection (RIRD) and response blocking (RB) are two interventions found to be efficacious in reducing motor stereotypy. However, the current literature presents with inconsistencies regarding the relative efficacy of these two procedures. Thus, we sought to replicate and extend previous literature by evaluating the efficacy of both interventions on reducing motor stereotypy among 3 individuals with ASD. We also sought to evaluate how variations in data analysis affected the interpretation of treatment outcomes. Results indicated that both interventions were equally efficacious at reducing stereotypy when analyzing data exclusive of treatment-implementation time. However, when analyzing total session time data, RB produced greater and more sustained reductions in stereotypy across all participants. These results emphasize the importance of data analysis decision-making in evaluating intervention outcomes.

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.

Movement disorders phenomenology in focal motor seizures.

INTRODUCTION: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain. METHODS: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists. RESULTS: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1). CONCLUSIONS: Movement disorders and focal motor epilepsy share overlapping movement phenomenology.

Teacher-Implemented Response Interruption and Redirection: Training, Evaluation, and Descriptive Analysis of Treatment Integrity.

Response interruption and redirection (RIRD) is an effective intervention for decreasing stereotypy. During RIRD, contingent on occurrences of stereotypy, therapists interrupt the behavior and prompt the participant to complete an alternative response. Although RIRD has been implemented by teachers in classrooms, it requires continuous monitoring of participants to be implemented with fidelity and may be difficult for teachers to manage. The present study evaluated the effectiveness of RIRD when implemented in classrooms. In addition, we evaluated if novice teaching assistants could be trained to implement RIRD. Finally, a descriptive analysis of treatment integrity errors during RIRD was conducted. Three children and teaching assistants participated. Following a written instructions baseline, the teaching assistants were trained to implement RIRD using modeling, rehearsal, and feedback. The training increased the accuracy of RIRD implementation for all participants. Incorrectly initiating and terminating RIRD were the most common treatment integrity errors observed.

Further Analysis of the Predictive Effects of a Free-Operant Competing Stimulus Assessment on Stereotypy.

We conducted five experiments to evaluate the predictive validity of a free-operant competing stimulus assessment (FOCSA). In Experiment 1, we showed that each participant's repetitive behavior persisted without social consequences. In Experiment 2, we used the FOCSA to identify high-preference, low-stereotypy (HP-LS) items for 11 participants and high-preference, high-stereotypy (HP-HS) items for nine participants. To validate the results of the FOCSAs (Experiment 3), we used a three-component multiple schedule to evaluate the immediate and subsequent effects of an HP-LS stimulus, an HP-HS stimulus, or both (in separate test sequences) on each participant's stereotypy. Results of Experiment 3 showed that the FOCSA correctly predicted the immediate effect of the HP-LS stimulus for 10 of 11 participants; however, the FOCSA predictions were less accurate for the HP-HS stimulus. Results of Experiment 4 showed that a differential reinforcement of other behavior procedure in which participants earned access to the HP-LS for omitting vocal stereotypy increased all five participants' latency to engaging in stereotypy; however, clinically significant omission durations were only achieved for one participant. Experiment 5 showed that differential reinforcement of alternative behavior in which participants earned access to the HP-LS stimulus contingent upon correct responses during discrete-trial training reduced targeted and nontargeted stereotypy and increased correct academic responding for all four participants. The potential utility of the FOCSA is discussed.

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.

Functional (psychogenic) stereotypies.

Functional (psychogenic) movement disorders (FMDs) may present with a broad spectrum of phenomenology including stereotypic movements. We aimed to characterize the phenomenology of functional stereotypies and compare these features with those observed in 65 patients with tardive dyskinesia (TD). From a cohort of 184 patients with FMDs, we identified 19 (10.3%) with functional stereotypies (FS). There were 15 women and 4 men, with a mean age at onset of 38.6 ± 17.4 years. Among the patients with FS, there were 9 (47%) with orolingual dyskinesia/stereotypy, 9 (47%) with limb stereotypies, 6 (32%) with trunk stereotypies, and 2 (11%) with respiratory dyskinesia as part of orofacial-laryngeal-trunk stereotypy. These patients showed signs commonly seen in FMDs such as sudden onset (84%), prominent distractibility (58%), and periods of unexplained improvement (84%) that were not reported in patients with TD. Besides a much lower frequency of exposure to potential offending drugs, patients with FS differed from those with classic TD by a younger age at onset, lack of self-biting, uncommon chewing movements, more frequent lingual movements without mouth dyskinesia, and associated functional tremor and abnormal speech. Lack of self-biting showed the highest sensitivity (1.0) and abnormal speech showed the highest specificity (0.9) for the diagnosis of functional orolingual dyskinesia. FS represent part of the clinical spectrum of FMDs. Clinical and demographic features are helpful in distinguishing patients with FS from those with TD.

A systematic review and evaluation of inhibitory stimulus control procedures as a treatment for stereotyped behavior among individuals with autism.

PURPOSE: Stereotypy is pervasive among persons with autism and may impact negatively on social inclusion and learning. The implementation of resource-intensive behavioral interventions to decrease these behaviors has been questioned. Inhibitory stimulus control procedures (ISCPs) comprise a type of antecedent-based intervention that has been proposed as an effective treatment approach for stereotypy but has received limited research attention to date. METHOD: The current systematic review sought to examine and synthesize the literature reporting applications of ISCPs in the treatment of stereotypy among persons with autism. Treatment outcomes were analyzed quantitatively and the status of ISCPs as evidence-based practice was evaluated in accordance with the National Autism Center's National Standards Report guidelines. RESULTS: A total of 11 studies were reviewed with results indicating that ISCPs constituted an emerging treatment for the stereotypy exhibited by persons with autism. CONCLUSIONS: ISCPs comprise a promising intervention for stereotyped behavior but further research is required.

Acute peripheral vestibular deficit increases redundancy in random number generation.

Unilateral peripheral vestibular deficit leads to broad cognitive difficulties and biases in spatial orientation. More specifically, vestibular patients typically show a spatial bias toward their affected ear in the subjective visual vertical, head and trunk orientation, fall tendency, and walking trajectory. By means of a random number generation task, we set out to investigate how an acute peripheral vestibular deficit affects the mental representation of numbers in space. Furthermore, the random number generation task allowed us to test if patients with peripheral vestibular deficit show evidence of impaired executive functions while keeping the head straight and while performing active head turns. Previous research using galvanic vestibular stimulation in healthy people has shown no effects on number space, but revealed increased redundancy of the generated numbers. Other studies reported a spatial bias in number representation during active and passive head turns. In this experiment, we tested 43 patients with acute vestibular neuritis (18 patients with left-sided and 25 with right-sided vestibular deficit) and 28 age-matched healthy controls. We found no bias in number space in patients with peripheral vestibular deficit but showed increased redundancy in patients during active head turns. Patients showed worse performance in generating sequences of random numbers, which indicates a deficit in the updating component of executive functions. We argue that RNG is a promising candidate for a time- and cost-effective assessment of executive functions in patients suffering from a peripheral vestibular deficit.

Adult-onset stereotypical motor behaviors.

Stereotypies have been defined as non-goal-directed movement patterns repeated continuously for a period of time in the same form and on multiple occasions, and which are typically distractible. Stereotypical motor behaviors are a common clinical feature of a variety of neurological conditions that affect cortical and subcortical functions, including autism, tardive dyskinesia, excessive dopaminergic treatment of Parkinson's disease and frontotemporal dementia. The main differential diagnosis of stereotypies includes tic disorders, motor mannerisms, compulsion and habit. The pathophysiology of stereotypies may involve the corticostriatal pathways, especially the orbitofrontal and anterior cingulated cortices. Because antipsychotics have long been used to manage stereotypical behaviours in mental retardation, stereotypies that present in isolation tend not to warrant pharmacological intervention, as the benefit-to-risk ratio is not great enough.

Reported History of Developmental Regression and Restricted, Repetitive Behaviors in Children with Autism Spectrum Disorders.

OBJECTIVE: Previous research on developmental regression in youth with autism spectrum disorders (ASD) has often been limited by the definition, assessment, and methodology used to evaluate and describe regression. This study sought to overcome these limitations by examining the prevalence, timing, and correlates of documented cases of developmental regression in a large, epidemiological sample of youth with ASD. METHOD: Utilizing a population-based surveillance methodology, this study includes 862 youth with ASD identified through abstraction and clinician record review. RESULTS: Approximately 21% of the sample had developmental regression documented in their medical or educational records with the mean age of regression being 24.2 ± 14.3 months. Youth with ASD and a history of regression were more likely to have comorbid intellectual disability, a prior community diagnosis of ASD, and be eligible for educational services as a student with autism. Youth with a documented history of regression also had higher rates of restricted, repetitive behaviors, such as stereotyped speech, nonfunctional routines/rituals, and sensory interests. CONCLUSION: Results suggest that youth with a history of regression are not only more likely to have comorbid intellectual disability but are also are more likely to have been previously diagnosed with ASD in the community, suggesting that development regression may play an important role in identifying children who are at the risk for ASD and need evaluation. Higher rates of restricted, repetitive behaviors in youth with a documented history of regression may also provide important insights into the relationship between ASD and developmental regression.

A Direct Comparison of Self-Injurious and Stereotyped Motor Behavior Between Preschool-Aged Children With and Without Developmental Delays.

OBJECTIVE: To compare the prevalence of self-injurious behavior (SIB) and stereotyped motor behavior (STY) of preschool-aged children with developmental delays (DD group) and their peers without developmental delays (TD group) using a standardized caregiver report scale. METHODS: The Repetitive Behavior Scale-Revised was completed by caregivers of children with developmental delays and their peers without developmental delays. Frequency of occurrence and severity ratings for SIB and STY were compared between groups. RESULTS: SIB and STY were reported more often and at a greater level of severity in the DD group. Older chronological age was associated with more severe STY in the DD group but not the TD group. Gender was not related to STY or SIB for either group. CONCLUSIONS: Differences in STY and SIB were evident between preschoolers with and without DD. Findings are discussed from developmental and behavioral psychology perspectives regarding the expression of repetitive behavior in developmentally at-risk pediatric populations.

Vitamin D status in autism spectrum disorders and the efficacy of vitamin D supplementation in autistic children.

OBJECTIVES: Autism spectrum disorder (ASD) is a developmental disorder characterized by pervasive deficits in social interaction, impairment in verbal and non-verbal communication, and stereotyped patterns of interests and activities. Vitamin-D deficiency was previously reported in autistic children. However, the data on the relationship between vitamin D deficiency and the severity of autism are limited. METHODS: We performed a case-controlled cross-sectional analysis conducted on 122 ASD children, to assess their vitamin D status compared to controls and the relationship between vitamin D deficiency and the severity of autism. We also conducted an open trial of vitamin D supplementation in ASD children. RESULTS: Fifty-seven percent of the patients in the present study had vitamin D deficiency, and 30% had vitamin D insufficiency. The mean 25-OHD levels in patients with severe autism were significantly lower than those in patients with mild/moderate autism. Serum 25-OHD levels had significant negative correlations with Childhood Autism Rating Scale (CARS) scores. Of the ASD group, 106 patients with low-serum 25-OHD levels (<30 ng/ml) participated in the open label trial. They received vitamin D3 (300 IU/kg/day not to exceed 5000 IU/day) for 3 months. Eighty-three subjects completed 3 months of daily vitamin D treatment. Collectively, 80.72% (67/83) of subjects who received vitamin D3 treatment had significantly improved outcome, which was mainly in the sections of the CARS and aberrant behavior checklist subscales that measure behavior, stereotypy, eye contact, and attention span. CONCLUSION: Vitamin D is inexpensive, readily available and safe. It may have beneficial effects in ASD subjects, especially when the final serum level is more than 40 ng/ml. TRIAL REGISTRATION NUMBER: UMIN-CTR Study Design: trial Number: R000016846.

[Molecular basis of Rett syndrome: A current look]. / Bases moleculares del síndrome de Rett, una mirada actual.

UNLABELLED: Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review". Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively. CONCLUSIONS: The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient.

Data analysis of response interruption and redirection as a treatment for vocal stereotypy.

Vocal stereotypy, or repetitive, noncontextual vocalizations, is a problematic form of behavior exhibited by many individuals with autism spectrum disorder (ASD). Recent research has evaluated the efficacy of response interruption and redirection (RIRD) in the reduction of vocal stereotypy. Research has indicated that RIRD often results in reductions in the level of vocal stereotypy; however, many previous studies have only presented data on vocal stereotypy that occurred outside RIRD implementation. The current study replicated the procedures of previous studies that have evaluated the efficacy of RIRD and compared 2 data-presentation methods: inclusion of only data collected outside RIRD implementation and inclusion of all vocal stereotypy data from the entirety of each session. Subjects were 7 children who had been diagnosed with ASD. Results indicated that RIRD appeared to be effective when we evaluated the level of vocal stereotypy outside RIRD implementation, but either no reductions or more modest reductions in the level of vocal stereotypy during the entirety of sessions were obtained for all subjects. Results suggest that data-analysis methods used in previous research may overestimate the efficacy of RIRD.