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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.

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.

Many conditions we now call body-focused repetitive behaviors (BFRBs) have been subject to research for several decades, most notably trichotillomania and skin picking. However, the American Psychiatric Association did not combine these conditions into a single category, body-focused repetitive behavior disorders (BFRBDs), until the fifth edition of the DSM (2013). Several aspects of the disorder remain uncertain and controversial. For example, ongoing debate surrounds which specific conditions fall under this diagnostic category and how to best differentiate BFRBs from conditions such as nonsuicidal self-injury (NSSI). The current article presents results from a survey of experts' opinions on diagnostic criteria, with the goal of refining the diagnostic criteria. We contacted experts on BFRB via various sources and invited them to complete an online survey on the phenomenology, classification, and differential diagnosis of BFRB. We also inquired about possible alternative syndrome labels (e.g., body-focused habit). Data from the final sample of 50 experts demonstrates that most experts agree with the present classification of BFRB/BFRBD as an obsessive-compulsive and related disorder and recommend retaining the labels BFRB or BFRBD. The experts considered the following conditions BFRB, with an agreement of over 60%: trichotillomania, skin picking, dermatophagia, nail biting, and lip-cheek biting. Mixed results emerged for awake bruxism and thumb sucking in adults. Only a minority regarded night bruxism and knuckle cracking as BFRB. To differentiate BFRB from NSSI, the experts noted that the motive behind the urge (self-harm/injury versus release of tension) should be considered. Analyses of a sub-sample of experts with at least six years of clinical and/or research experience yielded results compatible with those of the entire sample. The survey supports the usefulness of the BFRBD diagnostic entity. However, some criteria require further refinement. Future editions of the DSM should more explicitly delineate which conditions qualify as BFRB. Furthermore, it is important to give more attention to the primary motivation behind BFRB to distinguish it from NSSI and potentially from stereotypic movement behavior. •The phenomenology, classification, and differential diagnosis of BFRBs remain under debate.•Experts concur that trichotillomania, skin picking, dermatophagia, nail biting, and lip-cheek biting are primary BFRBs.•The motive is considered an important criterion in distinguishing BFRB from other conditions.•Experts concur that BFRBs should continue to be categorized as an obsessive-compulsive and related disorder.

Abstract 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 purpose of the study was to count and characterize the range of stereotypies – repetitive rhythmical, apparently purposeless movements – in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo–8y 1mo), 129 with autistic disorder (DSM‐III‐R), and 148 cognitively‐matched non‐autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non‐autism, low IQ (NALIQ) sub‐groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) <80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non‐autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ <80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation.

BackgroundTics 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.ObjectiveThis review aimed to assess the relationship between tics and stereotypies when these conditions present in co-morbidity.MethodsWe 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.ResultsOur 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%).DiscussionTics 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).

BackgroundThe 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.MethodsA 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.ResultsOut 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).ConclusionsExpert 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.

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.

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.

Toddlers with autism spectrum disorder (ASD) were assessed on the Repetitive Behavior Scale-Revised (RBS-R), which we found to have acceptable internal consistency. Stereotypical subscale scores showed a negligible association with cognitive level, but correlated more strongly with adaptive and social indicators. Relative to earlier reported RBS-R scores for older age groups, toddlers’ scores trended toward higher stereotyped behavior and lower ritualistic/sameness behavior. Our findings on associations with developmental indicators align with those of researchers who used more resource-intensive repetitive behavior measures. The convergence of these findings with those derived from other measurement methods suggests that the RBS-R, a cost effective parent-report measure, is a viable means of assessing repetitive behavior in toddlers with autism.