Stereotypic Movement Disorder Research Articles

Level of knowledge of Stereotypic Movement Disorders among paediatric population. An update on proper differential diagnosis and management including physical exercise approach - comprehensive literature review

Level of knowledge of Stereotypic Movement Disorders among paediatric population. An update on proper differential diagnosis and management including physical exercise approach - comprehensive literature review

Prevalence, comorbidities, and profiles of neurodevelopmental disorders according to the DSM-5-TR in children aged 6 years old in a European region.

There are no studies that measure the prevalence and real comorbidities of neurodevelopmental disorders (NDDs) according to the DSM-5-TR in 6-year-old children in population and clinical samples or studies that measure them as a whole. The data on the prevalence of these disorders are usually disparate because of the estimation methods (direct/indirect), the type of sample (population/clinical/school), and the ages studied. The initial sample (289 subjects) was representative of 6-year-old children in the entire population of Menorca, obtained from pediatric primary care services (100% of the sample). The patients were divided into two groups based on the criterion of verification of clinical warning signs. One of the groups represented the clinical or experimental sample (EG) (81 subjects) at risk of NDDs; the other group was considered the control sample (CG) (210 subjects), and they were subjects without risk of suffering NDDs. A direct clinical assessment of the clinical sample was carried out, and they were administered the Wechsler Intelligence Scale for Children (WISC-V), the Clinical Evaluation of Language Fundamentals (CELF-5), the Battery for the evaluation of the processes of revised reading (Batería para la evaluación de los procesos de lectura revisada - PROLEC-R), the Test for the Diagnosis of Basic Mathematical Competences, (TEDI-MATH), and the Developmental Coordination Disorder Questionnaire (DCDQ). A total of 21.5% of the initial sample suffered from an NDD. A total of 2.4% presented autism spectrum disorder (ASD); 14% presented attention-deficit hyperactivity disorder (ADHD); 0.34% presented mild intellectual disability; 9.54% presented communication disorder (CD) (5.8% language disorder, 3.4% phonological disorder, and 0.34% stuttering); 10% presented learning disorder with reading difficulties; 5.8% presented learning disorder with difficulties in writing; 3.11% presented learning disorder with difficulties in mathematics; 1% presented transitory tic disorder; 0.34% presented chronic tic disorder; 1% presented Tourette syndrome; 2% presented motor coordination disorder (MCD); and 0.34% presented stereotypic movement disorders. Male children were more affected than female children in general, with male/female ORs of 0.14/0.92 for the presence of comorbidities, 0.11/0.88 for combined ADHD, 0.06/0.87 for language disorder, 1.02/1.27 for MCD, and 1.39/1.02 for inattentive ADHD. In disadvantaged contexts, there was a higher prevalence of NDDs and comorbidities, unless the disorder was extreme, in which case only the NDD manifestations were presented. A significant proportion of the sample had not been previously diagnosed (88.6%); therefore, early detection programs are recommended to identify warning signs and develop policies that help and support the most disadvantaged sectors of the population.

Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period.

Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral changes. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior, interests and activities. The aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers, focusing on their similarities and disparities. The international medical literature search was conducted using PubMed and was revised regarding the subject using single and/or combined keywords as follows: differential diagnosis, preschoolers, diagnostic challenge, attention deficit hyperactivity disorder, intellectual disability, high abilities/giftedness, childhood apraxia of speech, social communication disorder, Landau-Kleffner syndrome, stereotyped movement disorder and excessive screen time. We describe conditions commonly found in clinical practice, taking ASD as a reference. We addressed converging and divergent aspects of behavior, cognition, communication, language, speech, socialization, and stereotypes for the diagnosis of ASD and other disorders identified as potential differential or comorbid diagnoses. The ranking and characterization of symptoms appear to be essential for better understanding the underlying common ground between children with developmental disorders and children with ASD, thus properly diagnosing and directing social, professional, or medication interventions. This detailed discussion adds to the literature since, although ASD differential diagnoses are frequently mentioned and discussed in textbooks and journal articles, they rarely occupy a prominent place as we aimed herein.

Комплексная оценка эффективности безглютеновой и безказеиновой диеты у детей с задержками психоречевого развития

Objective. To justify the significance of using a gluten-free casein-free diet (GFCF diet) in children with delayed psycho-speech development (DPSD) and to study its effect on the somatic and neuropsychological status of these patients. Patients and methods. This randomized, open-label, prospective trial involved 105 children (71 boys and 34 girls) with DPSD between the ages of 1 year 6 months and 6 years 7 months. Children were divided into two groups: group 1 included 53 children who received the GFCF diet; group 2 – 52 children who ate regular meals. Children were examined at the beginning of observation, after 6 and 12 months. We used the Integrative Medicine Assessment Scale (IMAS) 1 and 2, Childhood Autism Rating Scale, Autism Treatment Evaluation Checklist (ATEC), Integrative Medicine Patients Parent Scale. Laboratory and instrumental examinations included blood tests for antibodies IgA, IgM, IgG, IgE, Anti-tTG IgA, Anti-tTG IgG, Anti-EMA, stool tests for calprotectin and zonulin, ultrasound imaging of the abdomen, kidney, heart, transcranial Doppler ultrasound of brain vessels, and magnetic resonance imaging of the brain if necessary. All children were examined by a neurologist, psychiatrist, geneticist, and surdologist. Results. A significant effectiveness of the GFCF diet in children with DPSD, including autism spectrum disorders, was justified. It was shown that the number of children without stereotypic movement disorders, as well as without digestive problems, increased by 1.5 and 2.3 times in the group of patients receiving diet therapy compared to the group without dietary correction after 6 and 12 months from the beginning of observation; the proportion of highly expressed stereotypies decreased by 2.3 times after 6 months. According to the ATEC scale, the number of children with severe disorders was 2.2 and 2.9 times lower after 6 and 12 months, respectively; according to the somatic status assessment scale (IMAS), the total score was 1.25 times lower. Conclusion. The GFCF diet has a positive effect on the neuropsychological and somatic status of children with DPSD. Children with DPSD have non-celiac gluten sensitivity, in which adherence to the diet allows to alleviate gastrointestinal and neurological manifestations. Key words: anti-tissue transglutaminase antibodies, autism, gluten-free diet, delayed psycho-speech development

LEARNING DISORDER OF THE MAIN CHARACTER AS REFLECTED IN THE THEORY OF EVERYTHING MOVIE

Nowadays, along with the times and technology, movies have become one of the most effective mass-communication media, which can be used as a place to share knowledge, tell stories, or provide certain information. One of them is to provide information about education, where during the learning process students may experience learning disorders, both students with normal physical and students with disabilities. This research aims to analyze how learning disorders occur in the main character and to analyze how the intrinsic motivation of the main character in The Theory of Everything movie. In this research used content analysis method. The object of this research is The Theory of Everything movie which describes Stephen Hawking’s life until he achieved his success. Based on the analysis that has been done, the results of the research found are: the learning disorders occur in the main character of The Theory of Everything movie is caused by amyotrophic lateral sclerosis, such as: motor disorders and communication disorders. In motor disorders, the main character has developmental coordination disorder and stereotypic movement disorder. While on communication disorders, the main character has speech sound disorder, childhood-onset fluency disorder (stuttering), and unspecified communication disorder. In addition, the intrinsic motivation of the main character can be seen from all aspects of intrinsic motivation, they are: the needs to fulfil dissatisfaction when he has not completed his task, knowing his progress, and have aspirations or goals in his life.

P 20. Stimulus-dependent behavioural disorder in patients with ANT-DBS for Epilepsy

Deep brain stimulation (DBS) targeting the anterior nucleus of the thalamus (ANT) is as an effective and safe treatment option for patients with resistant epilepsy. A SANTE Study reported that there was a gradual improvement in selected neuropsychological test results in patient with DBS in ANT. Among those improvements there were reported a number of psychiatric adverse affects. However little is studied about immediate neuropsychological effects of DBS in ANT. Recently demonstrated Voges B. et. al (2015) a stimulus- and voltage-dependent effect interrupting sleep and leading to the occurrence of neuropsychiatric symptoms (npS) (e.g. depression, mood instability, disturbed sleep) during ATN-DBS. We here present one patient with a voltage-independent developing of npS during ANT-DBS. The 45-year-old right-handed female patient with mental retardation with autistic spectrum disorder presented with focal not lesional refractory epilepsy. The average seizure frequency was 6.1 per day with a range of 1 to 16 seizures daily. After failure of 13 AED“s, a DBS-ANT was initiated at the age of 44. Follow up simultaneous EEG- video recording from 26 surface electrode contacts after beginning to stimulate with standard parameters (unipolar cyclic (1min ON/5min OFF) stimulation with 5 V stimulation amplitude, 120 Hz stimulation frequency and a pulse width of 90 μs) there were seen a directly dependence of neuropsychiatric symptoms (stereotypical movements with sitting down, torso wiggling (Body rocking) with or without singing) and impulse onset. In video-EEG monitoring we determined, that the duration of npS was also the same as impulse lasts. A clinical response to stimulation was 84 %. We improve adverse effects changing the programming settings: the amplitude was gradually reduced to two volts, the stimulation frequency 120 Hz and a pulse width of 90 μs where the same. Actual case report devoted to immediate complex behavioural disorder, which does not fulfil criteria for a complex focal seizure, and is strongly associated with unipolar bilateral stimulation of ANT. The actual clinical presentation of the DBS induced behavioural disorder semiologically coincide with the term “stereotypic movement disorder”. We hypothesize that impaired function of ARAS lead to reduced behavioural suppression of impulse mediated behaviour in the patient with mental retardation. We analysed her video-EEG before she was being stimulated and noticed, that she already had a typical body movement (body rocking) but much less frequently. Obviously a DBS of ANT had had a strong influence on behavioural disorder of our patient and was reversible after adjusting the stimulation parameters.

Neurorazvojni poremećaji u međunarodnoj klasifikaciji bolesti, 11 izdanje (MKB-11) - pregled

Neurodevelopmental disorders include a wide range of difficulties and impairments in the development of cognitive and/or motor functions. The eleventh revision of the International Classification of Diseases (ICD-11), which came out in 2018 and whose application should start in 2022, has introduced for the first time the diagnostic group named neurodevelopmental disorders, which consists of disorders of intellectual development, developmental speech or language disorders, autism spectrum disorder (ASD), developmental learning disorder, developmental motor coordination disorder, attention deficit hyperactivity disorder (ADHD), stereotyped movement disorder, tic disorders, and other specified neurodevelopmental disorders, as a residual category. The aim of this overview was to present the main diagnostic categories in the ICD-11 that constitute the group of neurodevelopmental disorders and to show the main changes in the diagnosis of individual disorders of the development using the ICD-11 compared to the previous ICD10. It is expected that the ICD-11 will provide better conceptualization and understanding of psychopathology, including neurodevelopmental disorders, and that the diagnosing of disorders will not only be easier, but also improved for both research and clinical purposes.

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.

Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injurious behavior, aggression, and disruptive and destructive behaviors), autism spectrum disorder, severe intellectual disability, attention deficit hyperactivity disorder, and global developmental delay. Previous cytogenetic analysis revealed balanced translocations present in the patient's apparently normal mother. We hypothesized the presence of unbalanced translocations in the patient due to maternal history of spontaneous abortions. Whole-genome sequencing and whole-genome optical mapping, complementary next-generation genomic technologies capable of the accurate and robust detection of structural variants, identified t(3;10), t(10;14), and t(3;14) three-way balanced translocations in the mother and der(10)t(3;14;10) and der(14)t(3;14;10) translocations in the patient. Instead of a t(3;10), she inherited a normal maternal copy of Chromosome 3, resulting in an unbalanced state of a 3q28qter duplication and 10q26.2qter deletion. Copy-imbalanced genes in one or both of these regions, such as DLG1, DOCK1, and EBF3, may contribute to the patient's phenotype that spans neurodevelopmental, musculoskeletal, and psychiatric domains, with the possible contribution of a maternally inherited 15q13.2q13.3 deletion.

Developmental Motor Profile in Preschool Children with Primary Stereotypic Movement Disorder.

Aim Different neuropsychological dysfunctions have been described in children with primary Stereotypic Movement Disorder (SMD), mainly attention or motor coordination problems. Up to now with no study has evaluated psychomotor functions in preschoolers primary SMD. The aim of this observational study was to gather information on the motor profiles of SMD patients in this age range in comparison with typically developing children. Patients and Methods Twenty-six children (four girls) aged 36 to 76 months (mean= 53 ±10) with primary SMD were assessed by a structured evaluation including the Movement Assessment Battery for Children-Second Edition (MABC-2), the Beery-Buktenica Developmental test of Visual-Motor Integration (VMI), the Repetitive Behaviour Scale-Revised (RBS-R), the Motor Severity Stereotypy Scale (MSSS), and the Child Behaviour Checklist (CBCL). The diagnoses of Intellectual Disability or Autism Spectrum Disorder were exclusion criteria from the study. A comparison group of twenty-seven (four girls) typically developing children without stereotypies aged 36 to 59 months (mean= 48 ±7) was also examined. Results The MABC–2 total score was lower than 15th percentile in fifteen children with SMD (58%); the worst performances were observed in Balance and Manual Dexterity subtests. The motor coordination score of VMI was lower than 15th percentile in ten children (38%). The majority of the children with low scores at MABC-2 also had low scores at the motor coordination subscale of VMI. MABC-2 standard scores of the clinical group were significantly lower than those of controls on MABC-2 Total, Balance, and Ball Skills subtests. Conclusion The finding of widespread dysfunction of gross and fine motor abilities in preschoolers with primary SMD seems to delineate a peculiar phenotype and could provide new approaches to the management of this neurodevelopment disorder.

Improvements in Coordination, Cognitive Impairment, Akathisia and a Stereotypic Movement Disorder in 14-year-old Male Patient Following Neurological Rehabilitation and Clinical Nutrition Implementation.

Improvements in Coordination, Cognitive Impairment, Akathisia and a Stereotypic Movement Disorder in 14-year-old Male Patient Following Neurological Rehabilitation and Clinical Nutrition Implementation.

HABIT DISORDERS

Introduction: Childhood habit behaviors appear in numerous different forms.Many people engage in some degree of habit like behavior in their lifetime. For example,habits can range from seemingly benign behaviors, such as nail biting or foot tapping, to morenoticeable physically damaging behaviors, such as teeth grinding (bruxism) and hair pulling.Habit disorders, now subsumed under the diagnostic term stereotypic movement disorder,consist of repetitive, seemingly driven, and nonfunctional motor behaviors that interfere withnormal activities or that result in bodily injury. Objectives: To determine the frequency ofdifferent habit disorders in children coming to outpatient department of Pediatrics unit of AlliedHospital Faisalabad. Study design: Cross sectional study. Setting: Pediatric department ofAllied Hospital Faisalabad. Duration of study: 1 year 06 months. (From 01-03-2015 to 01-09-2016). Results: We determined that majority of the patients i.e. 40.68%(n=72) were between49-72 months, mean and sd was 54.23+21.45 months of age, 54.80%(n=97) male and45.20%(n=80) females, frequency of different habit disorders in children coming to outpatientdepartment of pediatrics unit of Allied Hospital, Faisalabad revealed 19.31%(n=34), nail biting,22.03%(n=39) had thumb sucking, 41.81%(n=74) had bruxism, 11.86%(n=21) had hair pullingand 10.17%(n=18) subjects had other habits. Conclusion: We concluded that the frequency ofdifferent habit disorders i.e. nail biting, thumb sucking, bruxism, hair pulling and other is higheramong children coming to outpatient department of Pediatrics unit of Allied Hospital Faisalabadand comparable with other studies.

Asperger’s Syndrome in a Clinical Sample: Reasons for Referral and Comorbidity

Asperger’s Syndrome (AS) is an autism spectrum disorder without mental retardation and language delay. AS often remains unrecognized until these children fail to adapt to school or kindergarten. The comorbid psychiatric disorders, achieving clinical significance, were considered as another pathway to diagnosis. This study is aimed to elucidate the reasons for referral, the frequency and the kinds of comorbidities in a clinical sample of consecutive cases of children and adolescents with AS. To this objective, clinical records of children and adolescents, who have received a DSM-IV diagnosis of AS after multidisciplinary assessment in a given time period were reviewed. After excluding 3 cases due to insufficient information, 24 cases of children and adolescents with Asperger’s Syndrome (23 boys and one girl) were identified. The mean age at the time of assessment and receiving diagnosis was 9.6 yrs. (age range 4 to 17 years). In twenty-one (87%) of the cases the reason for referral was an episode of disorganized behavior following an attempt to enroll the child at school or kindergarten, and more rare referral occurred within the significant school transition period. In the remaining 3 cases, the reason for referral was a comorbid condition. Comorbid conditions identified at the moment of assessment include: ADHD documented in 4 cases, tics in 3 cases, obsessive-compulsive behaviors in 4 cases, Stereotypic Movement Disorder or Trichotilomania in 4 of the cases. Within the clinical sample, a priori expected to include relatively severe cases, a higher frequency of comorbidity was found as compared to the rates in the general population. Adjustment reactions and comorbidities occasioned the referral, while AS was diagnosed only after specialized multidisciplinary assessment.

Stereotypic Movement Disorders

This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics. The pathophysiology of stereotypies involves fronto-striatal overactive dopaminergic pathways, and underactive cholinergic and GABAergic inhibitory pathways. No genetic markers have been identified despite a clear genetic predisposition. Behavioral therapy is the principle treatment. Future studies will focus on identifying genetic markers, and on better understanding the functional and structural neurobiology of these movements.

Sleep bruxism is related to decreased inhibitory control of trigeminal motoneurons, but not with reticulobulbar system.

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.

Brainstem reflexes in patients with sleep bruxism: Masseter inhibitory reflex responses and auditory startle reaction

Background Sleep bruxism (SB) is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep. Neurophysiologic methods offer approaches to study the excitability in SB by recording the motor potentials evoked by masseter muscles and masseter inhibitory reflex (MIR). Auditory startle reaction (ASR) has been found to be increased in restless leg syndrome but it has not been studied in SB. We aimed to show the hyperexcitability in the central jaw motor pathways in patients with SB by studying MIR and ASR responses. Methods 10 patients (mean age 48,4 ± 10,2 years; 8 male and 2 female) and 20 healthy subjects (mean age 34,4 ± 11,2 years; 6 male and 14 female) were enrolled in the study. The EMG activity was recorded from two masseter muscles by surface electrodes. The duration and latency of early and late silent periods and suppression ratios obtained from patient and control groups were compared. ASR was recorded from o. oculi, masseter, sternocleidomastoid, biceps brachii and tibialis anterior muscles and probability and latencies were evaluated. SPSS for Windows 11.5 package was employed. Results The differences in silent period onset latencies between patients and normal subjects were not significant but durations of early and late silent periods were shorter in SB group. Conclusions These results may indicate a reduced capacity for inhibition by the circuits responsible for the late period in SB and this increased excitability in central motor pathways could derive from an impaired modulation of subcortical structures especially brainstem inhibitory circuits and not from altered cortical mechanisms. Since ASR did not differ between the control and patient groups, it can be possible to say that there’s no abnormality in brainstem and reticulospinal circuits in SB patients.

Tic & Tourette Syndrome and Motor Disorders

Motor disorder refers to neuropsychiatric disorders such as abnormal movements, meaningless repetitive movements, and impairment in acquisition and performance of motor skills. Motor disorder was included as a sub-category of neurodevelopmental disorder chapter in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) [1]. DSM-5’s motor disorders include tic disorders (Tourette’s disorder, persistent motor or vocal tic disorder, provisional tic disorder, other specified tic disorder, and unspecified tic disorder), developmental coordination disorder, and stereotypic movement disorder. This review overviews and summarizes current knowledge on the motor disorder’s cause, diagnosis, and treatment. TIC DISORDERS

Venlafaxine induced bruxism, a case report

Bruxism is a stereotyped movement disorder characterized by compulsive grinding of teeth. This rarely occurs as an adverse effect of long term use of venlafaxine. A46 year old man with generalized anxiety disorder developed bruxism after 6 years of continuous treatment with venlafaxine.

Evaluation of correlation among sleep bruxism and depression levels, chronic pain and nonspecific physical symptoms according to axis II of the Research Diagnostic Criteria/ Temporomandibular disorders

Sleep Bruxism (SB) is considered as a parasomnia and defined as a stereotyped movement disorder characterized by grinding (eccentric), hitting or shaking (central) of teeth while sleeping unconsciously, and classified according to their etiology in primary (idiopathic) or secondary (associated with medical or psychiatric conditions) of multifactorial etiology. Certain risk factors such as alcohol/tobacco, caffeine, use of certain medications, conditions associated with sleep, psychological factors, among others, may trigger or enhance certain oral parafunctions. Objective: The present study aimed to observe statistically the existence of a possible correlation between SB and psychological aspects studied by the Research Diagnostic Criteria/Temporomandibular disorders (RDC/TMD): chronic pain, depression, nonspecific physical symptoms (NSPS) including pain, NSPS excluding pain. Material and methods: 50 patients with SB and 49 patients without SB were assessed, aged between 18 and 70 years at the TMD/Orofacial Pain Clinics of the School of Dentistry, Federal University of Juiz de Fora. These individuals were investigated by RDC Axis II on the severity levels of chronic pain, depression, nonspecific physical symptoms (NSPS) including pain, NSPS excluding pain, to verify the correlation of these variables with the SB. Results: There was a statistically significant correlation between BS and chronic pain severity (p = 0.001), and SB and NSPS including pain (p = 0.026), and SB and NSPS excluding pain (p = 0.018). There was no significant correlation between SB and depression. Regarding the severity of chronic pain, there was a higher prevalence of grade 2 (79.60%) in patients with BS and grade 1 (52%) in the patients without SB. According to the other assessed levels, a greater severity of psychological aspects evaluated by RDC/TMD were seen in patients with BS and more normal levels in patients without SB. Conclusion: Levels of chronic pain severity, nonspecific physical symptoms with or without pain (somatization) appeared as aspects involved in sleep bruxism. These findings emphasize the importance of an accurate assessment of the parafunction etiology for each case, which often requires a multidisciplinary approach.

Handbook on Obsessive-Compulsive and Related Disorders

Handbook on Obsessive-Compulsive and Related Disorders

A case with stereotyped movement disorder

A case with stereotyped movement disorder