"Frank" presentations as a novel research construct and element of diagnostic decision-making in autism spectrum disorder.

Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon. Respondents completed a 13-item questionnaire about frank ASD, which was analyzed using a mixed-methods approach. Ninety-seven percentage of respondents were familiar with the phenomenon. Respondents estimated that 40% of the ASD population has a frank presentation. Respondents reported the most highly specific behaviors associated with frank presentations were a general sense of impaired reciprocity, quality of eye contact, atypical vocal prosody, presence of motor mannerisms, and atypical gait or posture. In general, respondents reported detecting frank features rapidly, with the majority forming their impressions within the first ten minutes of interaction or observation. Although unstudied empirically, "frank" presentations of ASD are familiar to diagnosing clinicians, and appear to be based on behaviors both central to ASD diagnostic criteria (e.g., impaired reciprocity), and absent from diagnostic criteria (e.g., atypical gait or posture). We discuss these findings within the context of diagnostic decision-making and behavioral phenotyping of ASD. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 653-662. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Body-focused repetitive behavior disorders in ICD-11.

This article addresses the question of how body-focused repetitive behavior disorders (e.g., trichotillomania and skin-picking disorder) should be characterized in ICD-11. The article reviews the historical nosology of the two disorders and the current approaches in DSM-5 and ICD-10. Although data are limited and mixed regarding the optimal relationship between body-focused repetitive behavior disorders and nosological categories, these conditions should be included within the obsessive-compulsive and related disorders category, as this is how most clinicians see these behaviors, and as this may optimize clinical utility. The descriptions of these disorders should largely mirror those in DSM-5, given the evidence from recent field surveys. The recommendations regarding ICD-11 and body-focused repetitive behavior disorders should promote the global identification and treatment of these conditions in primary care settings.

Características clínicas y cambios epidemiológicos de «tinea capitis» en la población pediátrica / Clinical features and epidemiological changes in tinea capitis on a pediatric population

El aumento de la población extranjera ha determinado cambios en los dermatofitos productores de tinea capitis en diversos países. Presentamos una revisión de los pacientes pediátricos atendidos en un hospital de segundo nivel con clínica de tinea capitis y cultivo de escamas cutáneas del cuero cabelludo positivo para dermatofitos, con el fin de conocer la posible variación en la epidemiología, la presentación clínica y la respuesta al tratamiento antifúngico de dicha infección en los últimos años. En el 60% de los pacientes el cultivo fue positivo para Microsporum canis; se manifestó predominantemente como una forma alopécica microspórica en pacientes autóctonos con buena respuesta a la griseofulvina oral. Trichophyton violaceum fue el segundo dermatofito en frecuencia, causante de tinea capitis en 6 pacientes de origen africano; la forma de presentación más habitual fue una descamación fina del cuero cabelludo, con escasa o nula alopecia, y la mejor respuesta terapéutica se obtuvo con la terbinafina sistémica. Realizamos una comparación de las diferentes características epidemiológicas, clínicas y terapéuticas entre ambos hongos dermatofitos (AU)

Increasing numbers of foreigners has led to some changes in tinea capitis etiological agents in several countries. We present a review of pediatric patients suffering from tinea capitis with scalp scales positives cultures for dermatophytes attended in the last years at a second level hospital, in order to know the epidemiological features, clinical and therapeutic response variations. Microsporum canis was isolated in 60% of the patients; it was mostly seen as an alopecic microsporic clinical form in native children with an adequate response to oral griseofulvine. Trichophyton violaceum was the second most frequently isolated dermatophyte, which caused tinea capitis in 6 African children; it often produced a thin shedding scale with null or little associated alopecia and systemic terbinafine obtained the best therapeutic response. We compare both etiological agents in terms of their different epidemiological, clinical and therapeutic features (AU)

Body-focused repetitive behavior disorders in ICD-11

This article addresses the question of how body-focused repetitive behavior disorders (e.g., trichotillomania and skin-picking disorder) should be characterized in ICD-11. The article reviews the historical nosology of the two disorders and the current approaches in DSM-5 and ICD-10. Although data are limited and mixed regarding the optimal relationship between body-focused repetitive behavior disorders and nosological categories, these conditions should be included within the obsessive-compulsive and related disorders category, as this is how most clinicians see these behaviors, and as this may optimize clinical utility. The descriptions of these disorders should largely mirror those in DSM-5, given the evidence from recent field surveys. The recommendations regarding ICD-11 and body-focused repetitive behavior disorders should promote the global identification and treatment of these conditions in primary care settings.

Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders.

Research suggests that restricted and repetitive behaviors (RRBs) can be subdivided into repetitive sensory motor (RSM) and insistence on sameness (IS) behaviors. However, because the majority of previous studies have used the autism diagnostic interview-revised (ADI-R), it is not clear whether these subcategories reflect the actual organization of RRBs in ASD. Using data from the Simons simplex collection (n = 1,825), we examined the association between scores on the ADI-R and the repetitive behavior scale-revised. Analyses supported the construct validity of RSM and IS subcategories. As in previous studies, IS behaviors showed no relationship with IQ. These findings support the continued use of RRB subcategories, particularly IS behaviors, as a means of creating more behaviorally homogeneous subgroups of children with ASD.

A comparative study of primary and secondary stereotypies.

This study compares primary stereotypies (repetitive, self-stimulating, and seemingly nonsensical movements that can occur within typically developing children) and secondary stereotypies (those occurring within autistic or mentally retarded children). Utilizing a retrospective chart review from 1995 to 2010, the current study compares primary and secondary stereotypies by the application of a classification system that organizes the movement by its type (motor only, phonic only, mixed) and complexity. In addition, it investigates other parameters associated with the movements such as duration, frequency, age, functional impairment, and progression. The sample group consisted of 28 primary and 28 secondary cases. Primary stereotypies were predominantly motor, simple, of shorter duration, and of less frequency, whereas secondary stereotypies had more vocalization, complexity, longer durations, and higher frequencies. Moreover, functional impairment due to stereotypies was noted in 3 primary and 7 secondary cases, and worsening of stereotypies was noted in 70% of primary versus 44% of secondary cases.

Neurodevelopmental movement disorders - an update on childhood motor stereotypies.

AIM: The term 'stereotypies' encompasses a diverse range of movements, behaviours, and/or vocalizations that are repetitive, lack clear function, and sometimes appear to have a negative impact upon an individual's life. This review aims to describe motor stereotypies. METHOD: This study reviewed the current literature on the nature, aetiology, and treatment of motor stereotypies. RESULTS: Motor stereotypies occur commonly but not exclusively in autistic spectrum disorders. Similar movements are also found in otherwise healthy children and those suffering sensory impairment, social isolation, or severe intellectual disabilities; they may be persistent over time. Although often difficult, it is possible to define and differentiate stereotypies from other movement disorders such as tics through features of the history, such as earlier onset and examination, together with the presence or absence of associated neurological impairment or developmental difficulties. Co-occurrence with other disorders affecting frontostriatal brain systems, including attention-deficit-hyperactivity disorder, obsessive-compulsive disorder, and tic disorders, is common. INTERPRETATION: The underlying function of motor stereotypies remains unclear but may include the maintenance of arousal levels. A neurogenetic aetiology is proposed but requires further study. When treatment is sought, there are both pharmacological and behavioural options. Behavioural treatments for motor stereotypies may in time be shown to be most effective; however, they are difficult to implement in children younger than 7 years old.

Stereotypic movement disorders.

Stereotypic movements are repetitive, rhythmic, fixed, patterned in form, amplitude, and localization, but purposeless (e.g., hand shaking, waving, body rocking, head nodding). They are commonly seen in children; both in normal children (primary stereotypy) and in individuals with additional behavioral or neurological signs and symptoms (secondary stereotypy). They should be differentiated from compulsions (OCD), tics (tic disorders), trichotillomania, skin picking disorder, or the direct physiological effect of a substance. There is increasing evidence to support a neurobiological mechanism. Response to behavioral and pharmacological therapies is variable.

Motor stereotypy disorders.

PURPOSE OF REVIEW: This review highlights recent advances in understanding the clinical features, prevalence, and outcomes of motor stereotypy disorders in typically developing children. RECENT FINDINGS: Longitudinal data indicate that stereotypies in children with normal intelligence show an early age of onset, chronicity, and high prevalence of comorbid difficulties, including tics, obsessive-compulsive behaviors, and attention deficit hyperactivity disorder. The underlying abnormality remains unknown, but there is increasing evidence for Mendelian inheritance and a neurobiological mechanism. SUMMARY: Primary motor stereotypies are relatively common in childhood and can be subdivided into three groups (common, head nodding, and complex motor). Movements are similar to those seen in children with autistic spectrum disorders, mental retardation, and sensory deprivation. The role of pharmacotherapy is not established and behavioral therapy can be beneficial.

Trichotillomania, stereotypic movement disorder, and related disorders.

Trichotillomania is currently classified as an impulse control disorder not otherwise classified, whereas body-focused behaviors other than hair-pulling may be diagnosed as stereotypic movement disorder. A number of disorders characterized by repetitive, body-focused behaviors (eg, skin-picking) are prevalent and disabling and may have phenomenological and psychobiological overlap. Such disorders deserve greater recognition in the official nosology, and there would seem to be clinical utility in classifying them in the same diagnostic category.

Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures.

BACKGROUND: Nocturnal frontal lobe seizures (NFLS) show one or all of the following semeiological patterns: (1) paroxysmal arousals (PA: brief and sudden recurrent motor paroxysmal behavior); (2) hyperkinetic seizures (HS: motor attacks with complex dyskinetic features); (3) asymmetric bilateral tonic seizures (ATS: motor attacks with dystonic features); (4) epileptic nocturnal wanderings (ENW: stereotyped, prolonged ambulatory behavior). OBJECTIVE: To estimate the interobserver reliability (IR) of video-recording diagnosis in patients with suspected NFLS among sleep medicine experts, epileptologists, and trainees in sleep medicine. METHODS: Sixty-six patients with suspected NFLS were included. All underwent nocturnal video-polysomnographic recording. Six doctors (three experts and three trainees) independently classified each case as "NFLS ascertained" (according to the above specified subtypes: PA, HS, ATS, ENW) or "NFLS excluded". IR was calculated by means of Kappa statistics, and interpreted according to the standard classification (0.0-0.20 = slight agreement; 0.21-0.40 = fair; 0.41-0.60 = moderate; 0.61-0.80 = substantial; 0.81-1.00 = almost perfect). RESULTS: The observed raw agreement ranged from 63% to 79% between each pair of raters; the IR ranged from "moderate" (kappa = 0.50) to "substantial" (kappa = 0.72). A major source of variance was the disagreement in distinguishing between PA and nonepileptic arousals, without differences in the level of agreement between experts and trainees. CONCLUSIONS: Among sleep experts and trainees, IR of diagnosis of NFLS, based on videotaped observation of sleep phenomena, is not satisfactory. Explicit video-polysomnographic criteria for the classification of paroxysmal sleep motor phenomena are needed.

[Primary versus secondary stereotypic movements]. / Estereotipias primarias frente a estereotipias secundarias.

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants. Examples of associated stereotypic movements are those observed in Rett syndrome, in subjects with sensory defects or with mental retardation due to a variety of causes. And as instances of secondary stereotypic movements we have those that can be seen in infinite like syndrome caused by congenital cerebellar lesions. The purpose of the classification is to lay the foundations for the identification of new syndromes, which would without a doubt facilitate research into their physiopathology, their aetiology and the possible therapeutic attitude to be adopted.

Estereotipias primarias frente a estereotipias secundarias / Primary versus secondary stereotypic movements

Las estereotipias son patrones repetitivos del movimiento de los que no se conoce bien su fisiopatología y sus relaciones con otros trastornos neuroconductuales. En este artículo proponemos diferenciarlas en: estereotipias primarias, que son la única manifestación de anormalidad mientras que los exámenes complementarios, a excepción de los de genética molecular, son normales; estereotipias asociadas, cuando cumplen los criterios de trastorno primario pero coexisten otros signos neurológicos independientes, es decir, no son la causa ni la consecuencia del trastorno del movimiento; y estereotipias secundarias, cuando éstas son consecuencia de una lesión o disfunción neurológica adquirida. Son ejemplos de estereotipias primarias el rocking head parasómnico en sujetos por lo demás normales y las estereotipias por trastornos emocionales, por la deprivación ambiental grave o en lactantes institucionalizados. Ejemplos de las estereotipias asociadas son las que se observan en el síndrome de Rett, en sujetos con defectos sensoriales o con retraso mental de etiología variada. Y como ejemplos de las estereotipias secundarias tenemos las que se ven en el síndrome infinite-like causado por lesión cerebelosa congénita. Con esta clasificación se pretende sentar las bases para la identificación de nuevos síndromes, lo que sin duda facilitaría la investigación sobre su fisiopatología, su etiología y la posible actitud terapéutica (AU)

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants. Examples of associated stereotypic movements are those observed in Rett syndrome, in subjects with sensory defects or with mental retardation due to a variety of causes. And as instances of secondary stereotypic movements we have those that can be seen in infinite-like syndrome caused by congenital cerebellar lesions. The purpose of the classification is to lay the foundations for the identification of new syndromes, which would without a doubt facilitate research into their physiopathology, their aetiology and the possible therapeutic attitude to be adopted (AU)

Repetitive behaviors in chronic schizophrenia: using the Japanese version of the Elgin Behavior Rating Scale (JEBRS).

The main aim of this study was to test the reliability and value of the Japanese Elgin Behavior Rating Scale (JEBRS) with 92 schizophrenia patients. Cronbach's alpha for the JEBRS was 0.61. All inter-rater reliability coefficients were in the satisfactory range. The JEBRS had a high stability over time. Almost all of the correlations among the nine item scores and total score in the JEBRS were significant. The total score for nine repetitive behaviors in the JEBRS was positively correlated with positive and negative symptoms. This study showed that the JEBRS is a useful and reliable scale.

Body-rocking and other habits of college students and persons with mental retardation.

Prevalence of body-rocking in college students was assessed, and the characteristics of body-rocking of college students were compared to those of individuals with mental retardation. For college students, the prevalence depended on the restrictiveness of the method used and varied between 3% and 25%. Video samples showed that when compared with college students, a greater proportion of people with mental retardation engage in body-rocking, seem less sensitive to situational factors, demonstrate atypical collateral behaviors, engage in less leg-kicking, and execute their body-rocking with larger amplitudes. There were no differences in duration or number of individual rocks or bouts of body-rocking. We conclude that body-rocking is a "normal" behavior whose form of expression may become atypical.

Stereotyped behavior in developmentally delayed or autistic populations. Rhythmic or nonrhythmic?

Stereotypies are high-frequency, highly repetitive, nonfunctional behaviors that are also often characterized as rhythmic. Rhythmicity suggests that the behavior is periodic, occurring at fixed intervals. Few studies, however, have rigorously demonstrated periodicity in stereotypy. This study examined various topographies of stereotypy in 9 participants and used spectral methods to detect existence of periodicties. Two general patterns emerged in the spectral analysis. Participants who engaged in stereotypic rocking showed peaks in their power spectra; participants who engaged in other topographies of stereotypy did not show peaks. Thus, it appears that although some stereotypies--notably, rocking--have a periodic component, rhythmicity does not appear to be a characteristic of stereotypy in general.

The effect of stereotypies on adaptive skills as assessed with the DASH-II and Vineland Adaptive Behavior Scales.

The relationship of the Stereotypy subscale of the Diagnostic Assessment for the Severely Handicapped-II (DASH-II) to adaptive functioning was investigated. Differences in adaptive skills measured with the Vineland Adaptive Behavior Scales (VABS) for individuals scoring at or above the cutoff of the Stereotypy scale and below the cutoff of the scale were analyzed. Individuals with high stereotypy scores had significantly lower VABS scores. Implications of these findings for assessment and treatment are discussed.

Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II).

The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.

Nocturnal paroxysmal arousals with motor behaviors during sleep: frontal lobe epilepsy or parasomnia?

Nocturnal paroxysmal arousals with motor behaviors have been described in a few individuals, and their possible epileptic origin as nocturnal frontal lobe seizures has been suggested. However, the clinical and polysomnographic differentiation from parasomnias and physiologic movements during sleep have not been clarified yet. In this study, we evaluated a group of patients with nocturnal motor behaviors and tried to characterize paroxysmal arousals. Thirty-four participants (mean [+/-SD] age 22.7 [+/-12.9] years) noting nocturnal motor agitation or behaviors and 12 healthy controls (mean age 24.1 [+/-3.1] years) underwent nocturnal polysomnography with video-tape recording and motor behaviors analysis. Arousals with motor attacks were classified as minimal, minor, or major depending on semiology, complexity, and duration of behaviors. All patients showed several minimal (e.g., scratching or rubbing the nose and the head) and minor (e.g., pelvic thrusting or swinging with dystonic component) attacks, and 53% also had major episodes (e.g., sudden elevation of the head and trunk from the bed with complex behaviors) occurring mainly in non-rapid eye movement sleep. In all the patients, motor attacks were characterized by stereotypy, sudden onset, short duration, and repetitiveness. In 80%, epileptiform abnormalities were found. All control subjects showed motor events, but they were fewer, slower, nonstereotyped, and semiologically different from the patients'. No significant difference in conventional sleep parameters between the two groups were found. Paroxysmal arousals with motor behaviors probably represent a particular form of nocturnal frontal lobe epilepsy rather than an unusual parasomnia. The semiologic characteristics of these type of arousals are difficult to recognize and differentiate from physiologic movements or parasomnias without video-polygraphic analysis.