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Background: Stereotypic movements in autism form core symptoms under the rubric of repetitive and restricted patterns of behavior. Aim: The systematic review was aimed to find which antipsychotic has better efficacy in treating stereotypic behavior in autism spectrum disorder. Methods: We searched for journal publications in the English from PubMed and Cochrane databases (CENTRAL), January 1992–June 2024, for randomized controlled trials that compared antipsychotics with a placebo of at least 6 weeks’ trial, with the outcome measure being a change in stereotypy score. Quality assessment of the included studies in the meta-analysis was done using Cochrane risk of bias tool version 2. We followed PRISMA guidelines for systematic review. The mean difference in change of stereotypy symptoms score was calculated between antipsychotic and placebo participants along with 95% confidence interval (CI) using the random-effects model. Results: 146 studies were screened, and 25 studies were deemed eligible to retrieve full-length articles for review. A total of nine studies were included in the systematic review that had used aripiprazole, risperidone, or lurasidone as an antipsychotic. Six studies (n = 726) that had all data on mean difference in stereotypy scores on the Aberrant Behavior Checklist (ABC)-Stereotypy subscale and four studies (n = 554) that reported stereotypy scores using Children’s Yale-Brown Obsessive Compulsive Scale (CY-BOCS)-Compulsions subscale were included in the meta-analysis. Antipsychotics showed a significant reduction in ABC-Stereotypy scores (−1.84 [−2.84, −0.85; 95% CI], Z = 3.83, P < 0.001) with moderate heterogeneity between the studies (I2 = 53%). Whereas, antipsychotics did not show significant improvement in compulsions as measured on CY-BOCS (−0.87 [−1.89, 0.16; 95% CI], Z = 1.65, P = 0.10). Conclusion: Stereotypy in autism is difficult to measure, and no uniform measure exists. Trials are limited to short duration and limited to few antipsychotics. Among antipsychotics, risperidone has robust efficacy in reducing stereotypic behaviors.

Postural control is an essential ability for functional independence modified by therapeutic approaches and morbidities secondary to breast cancer. The anchor system enables additional haptic perception of body position in front of the support base and can be used alone or in conjunction with sensorimotor training. What is the influence of the anchor system, through different manual contacts on the upper limb, on body sway in women affected and not affected by lymphedema secondary to breast cancer treatment? Cross-sectional study involving 60 women homogeneously distributed to the group affected by lymphedema (GAL), with a mean age of 62.53 (SD = 12.54) years and upper limb volume difference (ULVD = Ipsilateral – Contralateral) of 636.21 (SD = 387.94) cm3, and group not affected by lymphedema (GNAL), with a mean age of 57.24 (SD = 11.43) years and ULVD of −8.91 (SD = 121.72) cm3. Baropodometry was used to assess body sway, through the presence and absence of the visual sense, associated with different manual contacts of the anchor system designated absence, simulation of use, unilateral and bilateral contact. The Shapiro-Wilk and Student's T-tests with Bonferroni Post-Hoc were used in the statistical analysis (p ≤ 0.05). The GAL expressed non-significant values compared to the GNAL in the absence of visual sense and non-use of the anchor system. The unilateral contact of the anchor system on the preferred upper limb in the presence of the visual sense, and bilateral contact of the anchor system in the presence and absence of the visual sense promoted a significant reduction of body sway in both groups. In breast cancer survivors, the anchor system with bilateral contact effectively maintains postural control, regardless of the visual sense and the volume of the upper limb. • Therapeutic approaches to breast cancer induce the disturbance of postural control. • Regardless of lymphedema, anchor system haptic perception reduces body sway. • Bilateral contact of the anchor system reduces body sway regardless of visual sense. [ABSTRACT FROM AUTHOR]

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports on TRAPPC6B with detailed clinical and neuroradiologic assessments, and studies on mechanisms of disease, and new types of variants. We describe 29 additional patients from 18 independent families with biallelic variants in TRAPPC6B. We identified seven homozygous nonsense (n = 12 patients) and eight canonical splice-site variants (n = 17 patients). In addition, we identified one patient with compound heterozygous splice-site/missense variants with a milder phenotype and one patient with homozygous missense variants. Patients displayed non-progressive microcephaly, global developmental delay/intellectual disability, epilepsy and absent expressive language. Movement disorders including stereotypies, spasticity and dystonia were also observed. Brain imaging revealed reductions in cortex, cerebellum and corpus callosum size with frequent white matter hyperintensity. Volumetric measurements indicated globally diminished volume rather than specific regional losses. We identified a reduced rate of trafficking into the Golgi apparatus and Golgi fragmentation in patient-derived fibroblasts that was rescued by wild-type TRAPPC6B. Molecular studies revealed a weakened interaction between mutant TRAPPC6B (c.454C>T, p.Q152*) and its TRAPP binding partner TRAPPC3. Patient-derived fibroblasts from the TRAPPC6B (c.454C>T, p.Q152*) variant displayed reduced levels of TRAPPC6B as well as other TRAPP II complex-specific members (TRAPPC9 and TRAPPC10). Interestingly, the levels of the TRAPPC6B homologue TRAPPC6A were found to be elevated. Moreover, co-immunoprecipitation experiments showed that TRAPPC6A co-precipitates equally with TRAPP II and TRAPP III, while TRAPPC6B co-precipitates significantly more with TRAPP II, suggesting enrichment of the protein in the TRAPP II complex. This implies that variants in TRAPPC6B may preferentially affect TRAPP II functions compared to TRAPP III functions. Finally, we assessed phenotypes in a Drosophila TRAPPC6B -deficiency model. Neuronal TRAPPC6B knockdown impaired locomotion and led to wing posture defects, supporting a role for TRAPPC6B in neuromotor function. Our findings confirm the association of damaging biallelic TRAPPC6B variants with microcephaly, intellectual disability, language impairments, and epilepsy. A subset of patients also exhibited dystonia and/or spasticity with impaired ambulation. These features overlap with disorders arising from pathogenic variants in other TRAPP subunits, particularly components of the TRAPP II complex. These findings suggest that TRAPPC6B is essential for brain development and function, and TRAPP II complex activity may be particularly relevant for mediating this function. [ABSTRACT FROM AUTHOR]

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 (RRB) are common in individuals with 22q11.2 microdeletion syndrome (22q11.2DS), yet the underlying mechanisms of these behaviors remain poorly characterized. In the present pilot investigation, we aimed to further our understanding of RRB in 22q11.2DS by exploring their relationship with cognitive control and anxiety as well as with sex, chronological age, and full-scale IQ. Parents of 38 children with 22q11.2DS (17 females; Mage = 11.15 years, SD = 2.46) completed the Social Communication Questionnaire as a measure of RRB and social and communication (SC) problems and the Behavioral Assessment System for Children-2 as a measure of anxiety and cognitive control. Higher RRB scores were significantly associated with higher anxiety levels (r = 0.44, P = 0.006), more impairments in cognitive control (r = 0.56, P

Self-injurious behaviors (SIB) encompass a heterogeneous set of self-inflicted aggressive behaviors that are highly prevalent in autistic youth. Existing research on SIB in autism spectrum disorder (ASD) has been limited by significant methodological and conceptual inconsistencies. Thus, the current study leveraged item-level data capturing the severity of unique SIB topographies to further understanding of factors associated with distinct SIB in a sample of 582 autistic youth (M age  = 12.12, SD age  = 3.68; range: 3-19 years; 13% females). Results suggest variation in severity endorsements for specific SIB topographies amongst autistic youth, such that 30%-50% of caregivers endorsed slight to very serious concern regarding the SIB topographies of bites nails/skin/fingers, scratches self, hits head/face/neck, bangs head against things, and picks skin. Generalized additive models demonstrated distinct patterns of associations between each SIB topography and dysregulation, sensory hypersensitivity, age, sex, IQ, and language level. Findings underscore the importance of exploring SIB as a multifaceted construct to capture unique correlates of distinct SIB that vary in severity and functional impact, which is critical for the development of effective interventions. This study represents an important step towards more individualized characterization of SIB and support for diverse presentations of these behaviors in autistic youth., (© 2024 International Society for Autism Research and Wiley Periodicals LLC.)

Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD). Compared to the social-communication impairments, we know considerably less about why children engage in RRBs and if and how to intervene with these behaviors. As a result, early intervention has typically focused on social-communication. In this study, we were interested in understanding how child RRBs changed following an intervention targeting social-communication behaviors and if caregiver training changed how they responded to their childs RRBs. Eighty-six toddlers with ASD and their caregivers received one of two interventions: caregivers were either actively coached while playing with their child (JASPER) or attended information sessions about ASD. On three different occasions (when they entered the study, following 10 weeks of intervention and 6-months after) caregivers were filmed playing with their child. From these recordings, we coded child RRBs and caregiver responses to these behaviors. Child RRBs remained relatively stable following intervention in both groups, but increased when the children returned at 6-months. Caregivers who received one-on-one coaching (JASPER) responded to a greater number of their childs RRBs and their responses were rated as more successful. Our study showed that a short-term social-communication intervention delivered through caregivers had spillover effects on how they also responded to their childs RRBs. Interventions targeting social-communication behaviors should also examine how these treatments affect child RRBs and how caregiver responses to these behaviors may change following training. Autism Res 2017, 10: 983-992. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

As the first female United States Secretary of State, Madeleine K. Albright redefined the role of America's top diplomat. While Albright's prolific foreign policy achievements are well documented, there has been little analysis of the negotiation style that contributed to her accomplishments. This article argues that Secretary Albright's negotiation style was formed, at least in part, by the need to respond to her counterparts' gender‐based stereotypes. Albright managed those stereotypes in two ways: by leveraging them in her negotiations, and by framing her assertiveness so as to avoid a counter stereotypic backlash. How exactly she did so is the focus of this article. Using two case studies from Albright's tenure as Secretary of State, I draw generalizable lessons for other negotiators looking not only to mitigate, but also exploit, the gender‐based assumptions that they face. [ABSTRACT FROM AUTHOR]

Social interaction is a fundamental behavior in all animal species, but the developmental timing of the social neural circuit formation and the cellular and molecular mechanisms governing its formation are poorly understood. We generated a mouse model with mutations in two Disheveled genes, Dvl1 and Dvl3, that displays adult social and repetitive behavioral abnormalities associated with transient embryonic brain enlargement during deep layer cortical neuron formation. These phenotypes were mediated by the embryonic expansion of basal neural progenitor cells (NPCs) via deregulation of a β-catenin/Brn2/Tbr2 transcriptional cascade. Transient pharmacological activation of the canonical Wnt pathway during this period of early corticogenesis rescued the β-catenin/Brn2/Tbr2 transcriptional cascade and the embryonic brain phenotypes. Remarkably, this embryonic treatment prevented adult behavioral deficits and partially rescued abnormal brain structure in Dvl mutant mice. Our findings define a mechanism that links fetal brain development and adult behavior, demonstrating a fetal origin for social and repetitive behavior deficits seen in disorders such as autism.

Introduction: Substance use disorder (SUD) is seen as a serious and growing public safety and health problem worldwide. Long-term sequelae may involve permanent damage to physical fitness, body balance, and coordination skills, with a severe motor, functional, and emotional consequences. Objective: To verify the effect of 16 sessions of a multimodal physical exercise program on physical fitness, body balance, and internalized stigma of inpatients for the treatment of Substance use disorder. Methods: Forty-three males with Substance use disorder (aged 33.9 ±12.4 years) were divided into an Intervention Group (IG, n=21) and Control Group (CG, n=22). The IG was submitted to eight weeks of training with physical exercises. Participants were submitted to the evaluation of internalized stigma, body balance, agility, and flexibility, before and after the intervention period. Results: Positive results were observed in physical fitness (agility, p=0.001) and body balance variables (center of pressure path with closed eyes, p=0.050, and ellipse area with closed eyes, p=0.031). The time of substance use correlated with lower performance in agility and body balance tests. Conclusion: The data seem to support the potential benefit of physical exercise as an adjunct in Substance use disorder rehabilitation process, particularly for physical fitness and body balance variables.

Lay Abstract: Most research about autism spectrum disorder (ASD) in females has looked at autistic features in people who have already received diagnoses. Because our understanding of ASD has been shaped by the difficulties of males, females may experience different difficulties and may not meet the criteria for diagnosis because of a skewed concept of ASD. We extracted detailed information from the assessment reports of 222 children who were either diagnosed with ASD (156 children) or not diagnosed despite many ASD traits (78 children). Females were less likely to have restricted interests, especially females who did not receive an ASD diagnosis. Females who did not receive an ASD diagnosis tended to show more ability in social and emotional reciprocity than what would qualify them for a diagnosis. We also found sex-/gender-specific profiles of body use and speech mannerisms. Many behaviours were more closely linked with an ASD diagnosis for males and others for females, suggesting that behaviours may be interpreted differently depending on the child's sex/gender. We discuss implications for assessing females for ASD in the context of this evidence.

Haploinsufficiency of the SCN1A gene encoding voltage-gated sodium channel Na(V)1.1 causes Dravets syndrome, a childhood neuropsychiatric disorder including recurrent intractable seizures, cognitive deficit and autism-spectrum behaviours. The neural mechanisms responsible for cognitive deficit and autism-spectrum behaviours in Dravets syndrome are poorly understood. Here we report that mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviours, social interaction deficits and impaired context-dependent spatial memory. Olfactory sensitivity is retained, but novel food odours and social odours are aversive to Scn1a(+/-) mice. GABAergic neurotransmission is specifically impaired by this mutation, and selective deletion of Na(V)1.1 channels in forebrain interneurons is sufficient to cause these behavioural and cognitive impairments. Remarkably, treatment with low-dose clonazepam, a positive allosteric modulator of GABA(A) receptors, completely rescued the abnormal social behaviours and deficits in fear memory in the mouse model of Dravets syndrome, demonstrating that they are caused by impaired GABAergic neurotransmission and not by neuronal damage from recurrent seizures. These results demonstrate a critical role for Na(V)1.1 channels in neuropsychiatric functions and provide a potential therapeutic strategy for cognitive deficit and autism-spectrum behaviours in Dravets syndrome.

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features of autism, especially stereotyped behaviours. The mechanisms mediating these features are poorly understood. Here we show that mice lacking Mecp2 from GABA (γ-aminobutyric acid)-releasing neurons recapitulate numerous Rett syndrome and autistic features, including repetitive behaviours. Loss of MeCP2 from a subset of forebrain GABAergic neurons also recapitulates many features of Rett syndrome. MeCP2-deficient GABAergic neurons show reduced inhibitory quantal size, consistent with a presynaptic reduction in glutamic acid decarboxylase 1 (Gad1) and glutamic acid decarboxylase 2 (Gad2) levels, and GABA immunoreactivity. These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes.

Youth with intellectual and developmental disabilities typically have higher rates of tics and stereotypies compared to children with otherwise typical development. Differentiating between these two pediatric movement disorders can be challenging due to overlapping clinical features, but is relevant due to distinct treatment modalities. The current study evaluated sensitivity and specificity of a tic screening measure, the Motor or Vocal Inventory of Tics (MOVeIT) in a pediatric sample enriched for stereotypy and tics. Children (n=199, age 2-15 years old) receiving care in a developmental-behavioral pediatrics clinic underwent a gold-standard diagnostic assessment by a tic expert; these evaluations were compared to the MOVeIT. The MOVeIT demonstrated good sensitivity (89.8%) and relatively lower specificity (57.1%) compared to tic expert for detecting tics in the overall sample. Specificity of the MOVeIT to identify tics improved to 75% when excluding children with co-occurring stereotypy. For children with tics and co-occurring stereotypy, sensitivity remained high (91.9%) but specificity was low (39.1%). The area under the curve (AUC) value to detect tics on the MOVeIT compared to the tic expert gold standard was significantly higher for children without stereotypy (AUC=85.7%) than those with stereotypy (AUC=64.3%, p <0.01). Overall, the ability to detect tics was better in those without co-occurring stereotypy symptoms. Further work is needed to establish the utility of the MOVeIT in populations where there is a high likelihood of co-occurring tics and stereotypy and in general population settings. Accurate distinction between tics and stereotypy will guide choices for intervention and anticipatory guidance for families., Competing Interests: Declaration of Interest Statement None of the authors have conflicts of interest related to the subject matter of this manuscript.

The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid. The orofacial dyskinesia worsened despite the aggressive use of first-line immunotherapy and second-line immunotherapy (rituximab), and resulted in a potentially fatal self-inflicted oral injury. We urgently attempted symptomatic management using BoNT-A injections in the masseter, and induced muscle paralysis using vecuronium. The patient’s severe orofacial dyskinesia was controlled. We observed the effects of the BoNT-A injections and a tapering off of the effects of vecuronium 10 days after the treatment. The movement disorder had improved significantly 4 weeks after the first administration of rituximab. The injection of BoNT-A into the masseter may be an effective treatment for medically refractory orofacial dyskinesia in pediatric patients with anti-NMDAR encephalitis. We propose that the use of BoNT-A injections should be considered early to avoid self-inflicted oral injury due to severe refractory orofacial dyskinesia in patients with anti-NMDAR encephalitis.

Lay Abstract: The way autism is represented in fictional media can impact people's views of autistic people. For example, representations may contribute to negative views of autistic people as being unusual or dangerous, or they may challenge stereotypes and instead highlight the strengths of autistic people. This work aimed to review previous research to understand how autistic people have been represented in fictional media (Part A). It also sought to understand whether viewing fictional portrayals of autism has an impact on people's knowledge of autism and attitudes towards autistic people (Part B). Of 14 studies that were included in Part A, several unhelpful and stereotypical portrayals of autism emerged. Positive portrayals were those that highlighted the strengths of autistic people and reflected nuance. There is a need for greater diversity in representation of autism in fictional media. For example, not all autistic people are white heterosexual males. Across the five studies included in Part B, there were no improvements in people's knowledge of autism after watching or reading a short segment from a fictional TV series or novel that depicts an autistic person. Although there was a significant improvement in people's attitudes towards autistic people, these findings do not provide a complete picture given the short length of the media exposure and small number of studies. Future studies should investigate how multiple exposures to the representation of autistic people in both fictional and non-fictional sources can affect people's understanding of autism. There is also a need to develop more accurate and respectful ways of measuring people's knowledge of, and attitudes towards, autism., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Research on deception detection has mainly focused on Simple Deception, in which false information is presented as true. Relatively few studies have examined Sophisticated Deception, in which true information is presented as false. Because Sophisticated Deception incentivizes the appearance of dishonesty, it provides a window onto stereotypical beliefs about cues to deception. Here, we adapted the popular Joker Game to elicit spontaneous facial expressions under Simple Deception, Sophisticated Deception, and Plain Truth conditions, comparing facial behaviors in static, dynamic nonspeaking, and dynamic speaking presentations. Facial behaviors were analysed via machine learning using the Facial Action Coding System. Facial activations were more intense and longer lasting in the Sophisticated Deception condition than in the Simple Deception and Plain Truth conditions. More facial action units intensified in the static condition than in the dynamic speaking condition. Simple Deception involved leaked facial behaviors of which deceivers were unaware. In contrast, Sophisticated Deception involved deliberately leaked facial cues, including stereotypical cues to lying (e.g., gaze aversion). These stereotypes were inaccurate in the sense that they diverged from cues in the Simple Deception condition-the actual appearance of deception in this task. Our findings show that different modes of deception can be distinguished via facial action analysis. They also show that stereotypical beliefs concerning cues to deception can inform behavior. To facilitate future research on these topics, the multimodal stimuli developed in this study are available free for scientific use., (© 2023. Springer Nature Limited.)

Case: Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome. At age 4, his parents raised concerns about his limited language, strong preference to be alone, and refusal to leave the house. Parents had observed his marked startle response to loud laughter and adult male voices. At age 7, his preferred activities consisted of dangling necklaces or shoelaces in front of his face and rocking his body forward and backward when seated. After limited progress in special education, speech, and occupational therapies, he was referred, at age 8, to a specialty center 3 hours from his home for a multidisciplinary evaluation. There, he received a diagnosis of co-occurring autism spectrum disorder (ASD).Over the last year, his repetitive behaviors have become more intense. He hits the side of his head with his fist and presses his thumbs into his eyes, causing bruising. Any attempts to remove his dangle objects are met with aggressive behaviors, including hitting, kicking, scratching, and elopement. At school, he refuses to complete work and sometimes hits his teacher. Aggression stops in the absence of educational demands. School staff informed parents they are not equipped to handle Jimmy's behaviors.Jimmy recently presented to the specialty center for developmental-behavioral pediatric and psychology support at the request of his primary care clinician. The developmental pediatrician discussed with Jimmy's parents the possibility of a trial of medication to address disruptive/aggressive behavior if there is not improvement with initiation of behavioral strategies. The psychologist began weekly behavioral parent training visits through telehealth, including prevention strategies, reinforcement, and functional communication training. The strategies have helped decrease the frequency of elopement and aggressive behaviors. Self-injurious behaviors and refusal at school have remained constant.Despite some stabilization, limited local resources as well as the lack of evidence-based guidelines for people with both Down syndrome and ASD have impeded improvements in Jimmy's significant behavioral and developmental challenges. His parents have become increasingly isolated from critical family and community support as well. In what ways could the clinicians and community support this child and his family and prevent others from experiencing similar hardships?, Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Anti-NMDAR autoimmune encephalitis is a rare neurological condition. Limited existing pediatric case studies have shown mild, but persisting, neuropsychological impairments. This report described neuropsychological functioning in two patients treated for anti-NMDAR autoimmune encephalitis. Patient A is a 16-year-old male (10 months after symptom onset) and Patient B is a 5-year-old female (45 months after symptom onset). Contrary to expectations, their cognitive profiles were largely intact, raising the possibility of minimal cognitive implications for some pediatric patients with this condition. Additional research is needed to identify factors that contribute to better cognitive outcomes in children with anti-NMDAR autoimmune encephalitis. [ABSTRACT FROM AUTHOR]

The primary aim of this study was to kinematically assess how children with autism spectrum disorder (ASD) plan and control their handwriting actions. Forty-three boys aged between 8 to 12 years were included in the present analysis; 23 with ASD and 20 typically developing (TD) controls. Sophisticated objective and quantifiable assessment of movement metrics and dynamics was applied across a series of basic cursive handwriting sequences. Children with ASD demonstrated atypical control of handwriting metrics and dynamics, as well as significantly greater neuromotor noise relative to age-matched peers. They also engaged in less regular monitoring and regulation of their movement during the handwriting task. This study provides new insights into the way children with ASD plan and sequence their handwriting movements. Overall, results revealed that even at a basic level, children with ASD appear to have a breakdown in their ability to control and regulate their handwriting movements. This has important implications for the school-aged child who constantly engages in handwriting tasks within the classroom environment and provides insight into possible directions for future intervention. [ABSTRACT FROM AUTHOR]

Pharmacological intervention in the substantia nigra is known to induce repetitive behaviors in rodents, but a direct causal relationship between a specific neural circuit and repetitive behavior has not yet been established. Here we demonstrate that optogenetic activation of dopamine D1 receptor-expressing MSNs terminals in the substantia nigra pars reticulata resulted in sustained and chronic repetitive behaviors. These data show for the first time that activation of the striatonigral direct pathway is sufficient to generate motor stereotypies. [ABSTRACT FROM AUTHOR]

Autism Spectrum Disorders are associated with atypical movements, of which stereotypical motor movements (SMMs) interfere with learning and social interaction. The automatic SMM detection using inertial measurement units (IMU) remains complex due to the strong intra and inter-subject variability, especially when handcrafted features are extracted from the signal. We propose a new application of the deep learning to facilitate automatic SMM detection using multi-axis IMUs. We use a convolutional neural network (CNN) to learn a discriminative feature space from raw data. We show how the CNN can be used for parameter transfer learning to enhance the detection rate on longitudinal data. We also combine the long short-term memory (LSTM) with CNN to model the temporal patterns in a sequence of multi-axis signals. Further, we employ ensemble learning to combine multiple LSTM learners into a more robust SMM detector. Our results show that: (1) feature learning outperforms handcrafted features; (2) parameter transfer learning is beneficial in longitudinal settings; (3) using LSTM to learn the temporal dynamic of signals enhances the detection rate especially for skewed training data; (4) an ensemble of LSTMs provides more accurate and stable detectors. These findings provide a significant step toward accurate SMM detection in real-time scenarios. [ABSTRACT FROM AUTHOR]

The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid. The orofacial dyskinesia worsened despite the aggressive use of first-line immunotherapy and second-line immunotherapy (rituximab), and resulted in a potentially fatal self-inflicted oral injury. We urgently attempted symptomatic management using BoNT-A injections in the masseter, and induced muscle paralysis using vecuronium. The patient's severe orofacial dyskinesia was controlled. We observed the effects of the BoNT-A injections and a tapering off of the effects of vecuronium 10 days after the treatment. The movement disorder had improved significantly 4 weeks after the first administration of rituximab. The injection of BoNT-A into the masseter may be an effective treatment for medically refractory orofacial dyskinesia in pediatric patients with anti-NMDAR encephalitis. We propose that the use of BoNT-A injections should be considered early to avoid self-inflicted oral injury due to severe refractory orofacial dyskinesia in patients with anti-NMDAR encephalitis. [ABSTRACT FROM AUTHOR]

Previous research has shown that rats reared in simple/impoverished environments demonstrate greater repetitive responding for sensory reinforcers ( e.g. , light onset). Moreover, the brains of these rats are abnormally developed, compared to brains of rats reared in more complex/enriched environments. Repetitive behaviors are commonly observed in individuals with developmental disorders. Some of these repetitive behaviors could be maintained by the reinforcing effects of the sensory stimulation that they produce. Therefore, rearing rats in impoverished conditions may provide an animal model for certain repetitive behaviors associated with developmental disorders. We hypothesize that in rats reared in simple/impoverished environments, the normal habituation process to sensory reinforcers is impaired, resulting in high levels of repetitive behaviors. We tested the hypothesis using an operant sensory reinforcement paradigm in rats reared in simple/impoverished (IC), standard laboratory (SC), and complex/enrichened conditions (EC, treatments including postnatal handling and environmental enrichment). Results show that the within-session habituation of the reinforcer effectiveness of light onset was slower in the IC and SC rats than in the EC rats. A dishabituation challenge indicated that within-session decline of responses was due to habituation and not motor fatigue or sensory adaptation. In conclusion, rearing rats in simple/impoverished environments, and comparing them to rats reared in more complex/enriched environments, may constitute a useful approach for studying certain repetitive behaviors associated with developmental disorders. [ABSTRACT FROM AUTHOR]

Patients with Parkinson's disease (PD) can experience several behavioral symptoms, such as apathy, agitation, hypersexuality, stereotypic movements, pathological gambling, abuse of antiparkinsonian drugs, and REM sleep behavioral disorders. Psychoses and hallucinations, depression and anxiety disorders, and difficulties in recognizing and experiencing emotions also impair behavior and can cause severe psychosocial problems in patients with PD. Symptoms can be present since early stages of the disease, sometimes even before the appearance of classical motor symptoms, likely in relation to dopamine depletion in basal ganglia and/or to dysfunctions of other neurotrasmitter systems, and others can develop later, in some cases in relation to dopaminergic treatment. In this paper, we review recent literature, with particular attention to the last 5 years, on the main behavioral and emotional disturbances described in PD patients as well as the hypothesized neurofunctional substrate of such impairments. Finally, we provide some suggestions on the most suitable instruments to check and assess PD-associated behavioral defects over time. [ABSTRACT FROM AUTHOR]

According to current proposals for ICD-11, stereotyped movement disorder will be classified in the grouping of neurodevelopmental disorders, with a qualifier to indicate whether self-injury is present, similar to the classification of stereotypic movement disorder in DSM-5. At the same time, the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders has proposed a grouping of body-focused repetitive behavior disorders within the obsessive-compulsive and related disorders (OCRD) cluster to include trichotillomania and skin-picking disorder. DSM-5 has taken a slightly different approach: trichotillomania and excoriation (skin picking) disorder are included in the OCRD grouping, while body-focused repetitive behavior disorder is listed under other specified forms of OCRD. DSM-5 also includes a separate category of nonsuicidal self-injury in the section on “conditions for further study.” There are a number of unresolved nosological questions regarding the relationships among stereotyped movement disorder, body-focused repetitive behavior disorders, and nonsuicidal self-injury. In this article, we attempt to provide preliminary answers to some of these questions as they relate to the ICD-11 classification of mental and behavioral disorders.

The article presents a case study of a seven-year-old English Springer Spaniel suffering from compulsive behavior disorder. It mentions that the dog was administered with amitriptyline hydrochloride and later discontinued due to its ineffectiveness. It also notes that its stereotypic behavior was managed by ignoring it.

In lower mammals, locomotion seems to be mainly regulated by subcortical and spinal networks. On the contrary, recent evidence suggests that in humans the motor cortex is also significantly engaged during complex locomotion tasks. However, a detailed understanding of cortical contribution to locomotion is still lacking especially during stereotyped activities. Here, we show that cortical motor areas finely control leg muscle activation during treadmill stereotyped walking. Using a novel technique based on a combination of Reliable Independent Component Analysis, source localization and effective connectivity, and by combining electroencephalographic (EEG) and electromyographic (EMG) recordings in able-bodied adults we were able to examine for the first time cortical activation patterns and cortico-muscular connectivity including information flow direction. Results not only provided evidence of cortical activity associated with locomotion, but demonstrated significant causal unidirectional drive from contralateral motor cortex to muscles in the swing leg. These insights overturn the traditional view that human cortex has a limited role in the control of stereotyped locomotion, and suggest useful hypotheses concerning mechanisms underlying gait under other conditions. One sentence summary Motor cortex proactively drives contralateral swing leg muscles during treadmill walking, counter to the traditional view of stereotyped human locomotion. [ABSTRACT FROM AUTHOR]

Clinical characteristics of autism spectrum disorder (ASD) and intellectual disability (ID) overlap, creating potential for diagnostic confusion. Diagnostic and statistical manual of mental disorders (DSM) criteria that best differentiate children with ID and some ASD features from those with comorbid ID and ASD were identified. Records-based surveillance of ASD among 8-year-old children across 14 US populations ascertained 2816 children with ID, with or without ASD. Area under the curve (AUC) was conducted to determine discriminatory power of DSM criteria. AUC analyses indicated that restricted interests or repetitive behaviors best differentiated between the two groups. A subset of 6 criteria focused on social interactions and stereotyped behaviors was most effective at differentiating the two groups (AUC of 0.923), while communication-related criteria were least discriminatory. Matching children with appropriate treatments requires differentiation between ID and ASD. Shifting to DSM-5 may improve differentiation with decreased emphasis on language-related behaviors. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Restless legs syndrome (RLS) is a common and treatable neurologic condition in pediatric patients, with a prevalence as high as 2 to 3%. The diagnosis of RLS is made clinically based on an urge tomove the legs accompanied by lower extremity discomfort thatoccurs during rest usually later in the day and is relieved bymovement. Periodic limbmovements in sleep (PLMS) can overlap with RLS, although PLMSalso exists as a separate entity characterized by stereotyped movements of lower extremities in sleep. Both conditions may be highly debilitating and interfere with daily function notably in the areas of educational attainment and behavioral regulation. Iron deficiency has been implicated in the pathophysiology of both RLS and PLMS. Current evidence suggests that treatment of ferritin levels < 50 µg/L may be beneficial in improving pediatric RLS symptoms and comorbid conditions or daytime dysfunction associated with RLS. Areas for future research include (1) clarifying the ferritin or other iron status measure level which predicts iron treatment will provide symptom improvement in pediatric patients, and (2) randomized clinical trials using iron therapy to determine the degree and duration of treatment. [ABSTRACT FROM AUTHOR]

Background: Classical autism belongs to a group of heterogeneous neurobehavioral disorders known as autism spectrum disorders (ASDs) characterized by abnormalities in social interaction, impaired communication, and repetitive stereotypic behaviors. Overall, there is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. This study aimed at identification of the C677T polymorphic genotypes of MTHFR gene among the Egyptian children with autism and to correlate them with different phenotypes. Subjects and methods: This case-control study included 20 children with autism (4.57 ±1.36 years) (13 males and 7 females) and a normal control group. Assessments by DSMIV- TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for MTHFR gene mutation C677T was performed on amplified DNA by PCR and subsequent reverse hybridization to immobilized allele-specific biotinylated oligonucleotides probes. Results: The relation between low birth weight and occurrence of autism is highly significant (P <0.01). The delayed motor and social milestones showed a statistically highly significant difference in cases of autism compared to controls (P < 0.01); 50% of autistic patients were heterozygous (CT) for the MTHFR gene, and 15% were homozygotes for the mutant genotype (TT). For the homozygous wild type genotype, 35% of patients were CC (P <0.05). The segregation of T allele in the homozygous 677TT genotype occurred in 30% of autistic children. Frequency of the T-allele in autistic children is 0.4 compared to an allele frequency of 0.3 among controls (P < 0.01). According to the CARS classification, 70% were severely affected of whom 42.8% were carrying the CT genotype. There was no significant difference between CARS (degree of severity of autism) and C677T polymorphism. There was no significant difference between various genotypes as regards the mean for CARS. There was no statistically significant difference as regards mean gestational age, birth weight and mean age at sitting down among the patient group with different genotypes (P> 0.05). Conclusion: Although the 677CT variant alleles significantly increased in patients with autism, it is unlikely that this association alone is sufficient to produce the complex array of symptoms associated with autism. Therefore, a search for additional genomic, metabolic, epigenetic and environmental risk factors should be undertaken. [ABSTRACT FROM AUTHOR]

Sleep bruxism (SB) is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep. We aimed to understand the abnormal networks related to the excitability of masticatory pathways in patients with SB. Eleven patients with SB and age- and gender-matched 20 healthy subjects were prospectively enrolled in our study. The masseter inhibitory reflex (MIR) after electrical stimulation and auditory startle reaction (ASR) were examined. For MIR responses, durations of early and late silent period (SP) were shorter and the degree of suppression of SPs was significantly lower in SB group in comparison to those obtained in healthy subjects. The ASR responses even of the masseter muscle, however, were similar between patients with SB and healthy individuals. Abnormal MIR provides support for the decreased inhibitory control of the central masticatory circuits in SB whereas normal ASR suggests the integrity and normal functioning of brainstem pathways mediating startle reaction. Although the sample size is small, our results are in line with previous findings and suggest an abnormally decreased inhibition in trigeminal motoneurons to masseter muscle rather than reticulobulbar pathways in patients with SB. [ABSTRACT FROM AUTHOR]

Women have less influence than men in a variety of settings. Does this result from stereotypes that depict women as less capable, or biased interpretations of gender differences in behavior? We present a field experiment that-unbeknownst to the participants-randomized the gender of avatars assigned to Democrats using a social media platform we created to facilitate discussion about the 2020 Primary Election. We find that misrepresenting a man as a woman undermines his influence, but misrepresenting a woman as a man does not increase hers. We demonstrate that men's higher resistance to being influenced-and gendered word use patterns-both contribute to this outcome. These findings challenge prevailing wisdom that women simply need to behave more like men to overcome gender discrimination and suggest that narrowing the gap will require simultaneous attention to the behavior of people who identify as women and as men., (© 2023. Springer Nature Limited.)