抽动障碍的家系研究

目的从家系研究的角度分析遗传印迹是否与抽动障碍的垂直传递有关.方法采用Tourette综合征及其相关行为障碍定式检查提纲、美国精神障碍诊断与统计手册第4版诊断标准和美国抽动障碍联合会制定的抽动障碍诊断标准,对171例抽动障碍先证者进行评定和诊断;采用标准化表型评定程序,收集先证者及其一级亲属(342人)、二级亲属(1283人)、三级亲属(2310人)的表型资料;根据父亲或母亲的患病情况,将先证者分为母系传递者和父系传递者.结果母系传递对于先证者复杂运动性抽动症状的影响较为显著(偏回归系数=6.6,P=0.01);父系传递的先证者则更容易表现注意问题(t=2.78,P=0.01);由母系传递先证者的发病年龄[(5.6±0.8)岁]早于父系传递的先证者[(6.1±1.1)岁;t=2.34,P=0.02].结论抽动障碍的垂直传递存在亲源特异性表达,遗传印迹机制可能参与了抽动障碍的发病.     

The prevalence of neurological disorders in Saudi children: a community-based study

There are limited data on the pattern and prevalence of pediatric chronic neurologic conditions in the region. Therefore, the objective of this study was to establish the prevalence of these disorders in the Kingdom of Saudi Arabia. A multistage probability sampling design was used to select a random sample of Saudi households representative of the Saudi population. A total of 45 682 Saudi children were screened. Of these children, 313 had a chronic major neurologic disorder indicating a prevalence of 68.5 per 10 000 children, which was the highest among all chronic diseases in children. Mental retardation and cerebral palsy were the most common neurologic disorders among Saudi children with a prevalence rate of 26.3/10 000 and 23.4/10 000, respectively. The finding that major neurologic disorders are the most common pediatric chronic disorders in the Kingdom of Saudi Arabia indicates that priority should be given to research and education as well as health care planning.     

Neurological disorders in Nigerian Africans: a community-based study

In a Nigerian town with a stable population of 20,000, a door-to-door survey was conducted, using a questionnaire involving a complete census and a simple neurological evaluation which had previously showed a 95% sensitivity and an 80% specificity for detecting neurological disease. Positive responders were evaluated and categorised, using agreed criteria for diagnoses. Nearly 100% cooperation was obtained. Life prevalence ratio for at least one episode of headache was 51/1000. Crude point prevalence ratio for migrainous headache was 5.3/100, and peak age-specific ratio was in the first decade. Prevalence ratio for epilepsy was 533/100,000 and peak age-specific prevalence ratio occurred in the 5-14 years age groups. The prevalence ratio for peripheral nerve disorders was 268/100,000, and age-specific prevalence ratio for tropical neuropathy increased with age. Prevalence ratio for stroke was rather low at 58/100,000, but was probably due to the people's attitude to the disabled elderly and high mortality of stroke which showed annual mortality rate of 70/100,000 which increased with age to 1519/100,000 per year in the eighth decade. Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for poliomyelitis, motor neurone disease, development speech disorders, 10 each for syncope, hereditary neuropathies. Parkinson's disease, benign essential tremor, primary cerebellar degeneration, cerebral palsy, mental retardation, organic psychosis (probable intracranial tumor) and 5 each for muscular dystrophy, pyomyositis, spina bifida occulta, alcohol dependence and cerebral malaria. The implications of the findings are important for development of community neurological services in the developing countries.     

Bereitschaftspotential in tic disorders: a preliminary observation

Sensory phenomena in tic disorders such as Tourette's syndrome are known but are substantiated by only a handful of studies. In this preliminary report, we studied premonitory urge, a type of sensory phenomenon in three patients of tic disorders. Bereitschaftspotential, a movement-related cognitive potential indicative of motor preparation, was assessed in these patients. As bereitschaftspotential was observed in all our cases prior to occurrence of tics, it is speculated that tics are not entirely involuntary but are quasi-volitional in nature. Bereitschaftspotential may thus represent a neurophysiological marker of premonitory urge in tic disorders. Implications of exploring the voluntary nature of tics are discussed.     

Face identity recognition in autism spectrum disorders: a review of behavioral studies

Face recognition – the ability to recognize a person from their facial appearance – is essential for normal social interaction. Face recognition deficits have been implicated in the most common disorder of social interaction: autism. Here we ask: is face identity recognition in fact impaired in people with autism? Reviewing behavioral studies we find no strong evidence for a qualitative difference in how facial identity is processed between those with and without autism: markers of typical face identity recognition, such as the face inversion effect, seem to be present in people with autism. However, quantitatively – i.e., how well facial identity is remembered or discriminated – people with autism perform worse than typical individuals. This impairment is particularly clear in face memory and in face perception tasks in which a delay intervenes between sample and test, and less so in tasks with no memory demand. Although some evidence suggests that this deficit may be specific to faces, further evidence on this question is necessary.     

Further evidence of behavioral interventions for tic disorders: A reply to Theule and colleagues

We were delighted to read the letter by Dr. Theule and colleagues (Theule et al., 2016) commenting on our meta-analysis of behavior therapy for Tourette Syndrome (TS)(McGuire et al., 2014). We welcome this discussion, and were interested to learn of their related meta-analysis on psychosocial treatments for tic disorders. This commentary addresses the similarities and distinctions between these two meta-analytic investigations, and concludes with recommendations regarding the future of treatment research for TS.     

Interpersonal distance and social anxiety in autistic spectrum disorders: A behavioral and ERP study

An inherent feature of social interactions is the use of social space or interpersonal distance—the space between one individual and another. Because social deficits are core symptoms of Autistic Spectrum Disorder (ASD), we hypothesized that individuals on this spectrum will exhibit abnormal interpersonal distance preferences. The literature on interpersonal distance in ASD is not conclusive. While some studies show preferences for closer distances among this group, others show preferences for farther distances than controls. A common symptom of ASD that may explain the variance in responses to interpersonal distance in this population is social anxiety (SA), which has been shown to correlate with interpersonal distance preferences. In the current study, we investigated interpersonal distance preferences in a group of individuals with ASD using both behavioral and ERP measures. We found greater variance in interpersonal distance preferences in the ASD group than in the control group. Furthermore, we showed that this variance can be explained by differences in SA level and can be predicted by the N1 amplitude, an early ERP component related to attention and discrimination processes. These results hint at the early sensory and attentional processes that may be affecting higher social behaviors, both in subclinical and in clinical populations.     

The effect of cognitive behavioral treatment on the positive symptoms of schizophrenia spectrum disorders: a meta-analysis

BACKGROUND: Despite the effectiveness of anti-psychotic pharmacotherapy, residual hallucinations and delusions do not completely resolve in some medicated patients. Additional cognitive behavioral therapy (CBT) seems to improve the management of positive symptoms. Despite promising results, the efficacy of CBT is still unclear. The present study addresses this issue taking into account a number of newly published controlled studies. METHOD: Fourteen studies including 1484 patients, published between 1990 and 2004 were identified and a meta-analysis of their results performed. RESULTS: Compared to other adjunctive measures, CBT showed significant reduction in positive symptoms and there was a higher benefit of CBT for patients suffering an acute psychotic episode versus the chronic condition (effect size of 0.57 vs. 0.27). DISCUSSION: CBT is a promising adjunctive treatment for positive symptoms in schizophrenia spectrum disorders. However, a number of potentially modifying variables have not yet been examined, such as therapeutic alliance and neuropsychological deficits.     

Therapy of tic disorders

Tremendous progress has taken place in the last 8 years since the publication of our review on ?Therapy of Tic Disorders? in the Zeitschrift für Kinder- und Jugendpsychiatrie. Several steps in treatment have been specified. For example, consensus-based indications for treatment have been published, and a detailed manual for a so-called habit-reversal training program has been developed and evaluated. In addition, new treatment options such as aripiprazole and deep-brain stimulation have been implemented. Increasing attention is being given to the disabling consequences of the commonly co-occurring psychiatric conditions known as ADHD or OCD. Nevertheless, there is still much to be learned about the treatment of tic disorders; standardized and sufficiently large drug trials in patients with tic disorders fulfilling evidence-based medicine standards are still scarce. The same is true for direct comparisons of different agents as well as of medication versus behavioral treatment. Finally, the question of how to predict the individual course of tics and how best to deal with the problems of waxing and waning of tics in this context still limits evidence base for treatment decisions. Large clinical experience is still a pre-requisite for making optimal decisions for the treatment of individual patients suffering from a tic disorder.     

Vocal stereotypy in individuals with autism spectrum disorders: a review of behavioral interventions

Vocal stereotypy is a common problem behavior in individuals with autism spectrum disorders that may interfere considerably with learning and social inclusion. To assist clinicians in treating the behavior and to guide researchers in identifying gaps in the research literature, the authors provide an overview of research on vocal stereotypy in individuals with autism spectrum disorders. Specifically, the authors review the research literature on behavioral interventions to reduce engagement in vocal stereotypy with an emphasis on the applicability of the procedures in the natural environment and discuss the clinical implications and limitations of research conducted to date. Researchers have shown that several antecedent-based and consequence-based interventions may be effective at reducing vocal stereotypy. However, the review suggests that more research is needed to assist clinicians in initially selecting interventions most likely to produce desirable changes in vocal stereotypy and collateral behavior in specific circumstances.     

Developmental and behavioral questionnaire for autism spectrum disorders

The validity of the Parental Concerns Questionnaire, a brief screening checklist assessing the presence and severity of 13 developmental and behavioral concerns expressed by parents of children with autism spectrum disorders, was determined in 53 children ages 4 to 10 years with a clinical diagnosis of autism spectrum disorder and 48 age-matched typically developing controls. Parents completed the Parental Concerns Questionnaire, the Child Behavior Checklist, the Child Sleep Habits Questionnaire, and either the Repetitive Behavior Scale or the Compulsive Behavior Checklist. A clinical examiner administered the Peabody Picture Vocabulary Test and the Autism Diagnostic Observation Scale. The Parental Concerns Questionnaire demonstrated high internal consistency in the autism spectrum disorder subgroup. Reliability and stability over time were demonstrated. Analyses showed variability in item responses for each child indicating that parents were not globally answering all items as concerns. Comparison of Parental Concerns Questionnaire item scores to scores for similar multiquestion domains on standardized parent-rated and clinician-administered assessment tools demonstrated external validity with other parent-rated and clinician-rated instruments. The Parental Concerns Questionnaire is a reliable screening instrument to assess parentally reported developmental and behavioral symptoms in children with autism spectrum disorders.     

Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study

Objective: Little is known about outcomes of Autism Spectrum Disorders (ASDs) interventions in real-life settings. The main aim of this naturalistic study was to collect real-life data on the actual ASDs treatment practices in Italy.

Methods: A cohort of 48 children undergoing community-based interventions was observed in terms of personal and environmental characteristics, treatment typology and outcomes.

Results: An earlier start of treatment was associated with an improvement of autistic symptoms, independently from symptoms severity (p?<?0.05), but not with improvements in terms of intelligence quotient (p?=?0.8). Children belonging to lower socioeconomic status families began treatment later (48.0 months) than those belonging to middle (39.8 months) or upper (39.2 months) classes (p?<?0.05), and received less hours of treatment.

Conclusion: The study showed that ASDs interventions should be observed not only in experimental settings, but also in naturalistic environments, so to appraise the actual effectiveness of integrating different treatment methods in community settings.     

Prevalence of tic disorders: a systematic review and meta-analysis

This study evaluated the prevalence of tic disorders. MEDLINE and EMBASE databases were searched, using terms specific to Tourette syndrome and tic disorders, for studies of incidence, prevalence, and epidemiology. Thirty-five studies reporting data from 1985-2011 on the incidence or prevalence of tic disorders in a defined population were included. One reported incidence, and 34 reported prevalence. Meta-analysis of 13 studies of children yielded a prevalence of Tourette syndrome at 0.77% (95% confidence interval, 0.39-1.51%). Prevalence is higher in boys: 1.06% of boys were affected (95% confidence interval, 0.54-2.09%) vs 0.25% of girls (95% confidence interval, 0.05-1.20%). Transient tic disorder comprised the most common tic disorder in children, affecting 2.99% (95% confidence interval, 1.60-5.61%). Meta-analysis of two studies assessing adults for Tourette syndrome revealed a prevalence of 0.05% (95% confidence interval, 0.03-0.08%). The prevalence of tic disorders was higher in all studies performed in special education populations. Tic disorders are more common in children than adults, in boys than girls, and in special education populations. Parents, educators, healthcare professionals, and administrators should be aware of the frequency with which tic disorders occur, and ensure proper access to appropriate care.     

Tourette syndrome and tic disorders: a decade of progress

OBJECTIVE: This is a review of progress made in the understanding of Tourette syndrome (TS) during the past decade including models of pathogenesis, state-of-the-art assessment techniques, and treatment. METHOD: Computerized literature searches were conducted under the key words "Tourette syndrome," "Tourette disorder," and "tics." Only references from 1996-2006 were included. RESULTS: Studies have documented the natural history of TS and the finding that tics usually improve by the end of the second decade of life. It has also become clear that TS frequently co-occurs with attention-deficit/hyperactivity disorder), obsessive-compulsive disorder, and a range of other mood and anxiety disorders. These comorbid conditions are often the major source of impairment for the affected child. Advances have also been made in understanding the underlying neurobiology of TS using in vivo neuroimaging and neurophysiology techniques. Progress on the genetic front has been less rapid. Proper diagnosis and education (involving the affected child and his or her parents, teachers, and peers) are essential prerequisites to the successful management of children with TS. When necessary, modestly effective antitic medications are available, although intervening to treat the comorbid attention-deficit/hyperactivity disorder and/or obsessive-compulsive disorder is usually the place to start. CONCLUSIONS: Prospective longitudinal studies and randomized clinical trials have led to the refinement of several models of pathogenesis and advanced our evidence base regarding treatment options. However, fully explanatory models are needed that would allow for more accurate prognosis and the development of targeted and efficacious treatments.     

Defining the behavioral phenotype in children with fetal alcohol spectrum disorders: a review

While there exists a large body of literature on cognitive functions in children with prenatal alcohol exposure, it remains undetermined if these children exhibit a unique profile of cognitive-behavioral functioning or a behavioral phenotype. Researchers have consistently found that intellectual functioning, as assessed by IQ tests, of children with prenatal alcohol exposure is deficient. There is increasing evidence that prenatal alcohol exposure is associated with slow information processing and attentional problems, in particular inattentiveness. Studies examining specific cognitive abilities such as language, visual perception, and memory in alcohol-affected children have shown performance decrements associated with increased task complexity. Children with prenatal alcohol exposure have also been found to exhibit significant deficits in daily functional skills or adaptive behavior, with deficits in socialization becoming pronounced during adolescence. The above findings point to the conclusion that a generalized deficit in complex information processing constitutes the central cognitive-behavioral characteristic of children with prenatal alcohol exposure. Researchers have consistently documented that specific brain regions are more affected by alcohol than other regions. The problem of mapping focal anomalies of the brain with a generalized pattern of deficits can be solved by taking developmental processes into consideration.     

The prevalence of epilepsy and other seizure disorders in an Arab population: a community-based study

Purpose: To determine the prevalence of epilepsy and other convulsive disorders and the causes of symptomatic epilepsies in a Saudi Arabian population. Methods: Door to door survey of a restricted area inhabited by 23 700 Saudi nationals. The World Health Organization (WHO) protocol designed to detect neurological disorders was used as screening instrument. All patients with probable seizures were examined by a neurologist and 92% of positive cases were investigated by brain computed tomography (CT) and electroencephalogram (EEG). Results: Prevalence rate (PR) for active epilepsy was 6.54 /1000 population (95% confidence interval 5.48–7.60). Twenty-eight percent of the patients had partial seizures, 21% generalized seizures and in 51%, it was not possible to determine if the generalized seizures had focal onset or not. The epilepsy was symptomatic in 32% of the cases: pre or perinatal encephalopathy 23%, head injury 4%, childhood neurological infection 4% and stroke 1%. Febrile convulsions PR was 3.55 /1000 children under the age of 6 years and isolated seizures were documented in only 0.18 /1000 population. Conclusions: The PR of epilepsy in Saudi Arabs is within the range of the values reported in most communities. The causes of symptomatic epilepsies revealed a predominance of perinatal and inherited factors. Isolated and non-convulsive seizures were probably under-recognized due to various social and cultural factors as well as to lack of sensitivity of the questionnaire for non-convulsive seizures.     

Pharmacologic treatment of tic disorders

The approach to treating children and adolescents with tic disorders has evolved in recent years such that complete elimination of tics is no longer the primary goal of treatment. Indeed, given the high frequency of psychiatric comorbidity in TS, treatment planning begins with identification of target symptoms. Although traditional neuroleptics still represent standard treatment for tics, many families and clinicians are reluctant to use these agents because of concern about the potential for short- and long-term side effects. Thus, there is great interest in the newer atypical neuroleptics. Interest in the atypical neuroleptics is understandable, but much more study is needed before these agents can become first-line treatments for tics. A small group of non-neuroleptic medications have been used in the treatment of tics. Of these, clonidine, guanfacine, tetrabenazine, pergolide, and botulinum toxin injections have shown some promise for suppressing tics. To date, however, only clonidine has been evaluated in randomized, controlled trials, and the results are not consistent across studies. Although comorbid ADHD is common in children with TS, treatment with stimulant medications was not recommended in children with tics. Recent data suggest that stimulants may be used in some children with TS without adverse effects. Until more is known about which children with ADHD and tic disorders can be safely treated with stimulants, however, the use of stimulants in this population should be undertaken with caution. A handful of nonstimulant medications have been used in the treatment of ADHD with some success, but more study is needed for most of these agents. Evaluation of the stimulants and nonstimulants for the treatment of ADHD in children and adolescents with tic disorders is an area worthy of large controlled trials.