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معظمنا إن لمن نكن جميعنا يحتاج لمثل هذا الكتاب فمن منا ليس لديه زميل أو قريب أو صديق أحد أفراد عائلته مصابا باضطراب متعلق بالتوحد. لقد كان التوحد في منتصف الثمانينيات من القرن الماضي يعد اضطرابا نادرا إلا أن تقديرات انتشاره ازدادت بشكل كبير منذ ذلك الوقت، كما طورت علاجات سلوكية ودوائية وبرامج تعليمية وخدمات، وانضم علماء من مجالات مختلفة إلى البحث عن الأسباب المحتملة للتوحد. يشرح هذا الكتاب الخلفية وتقييم التشخيص وأسباب المرض والعلاج وخدمات الرعاية فيما يتعلق باضطراب طيف التوحد، وهو مصمم ليكون دليلا سهل الاستخدام ليستفيد منه كل من يريد معرفة المزيد عن هذا الاضطراب (اضطراب العصر). يستطيع المختص أن يبحر في لجة تفاصيله. إلا أن الشخص العادي يستطيع الاستفادة مما فيه ففي نهاية كل فصل ملخص لما جاء فيه وهناك تعداد للنقاط الرئيسة التي جاءت فيه بأسلوب شائق رشيق مفهوم لكل شخص.

Purpose of Review We review the recent literature regarding the implications of gender on the diagnosis and treatment of autism spectrum disorder (ASD) in women and adolescent females. We also discuss important clinical observations in treating this population. Recent Findings Growing research supports gender specificity in ASD symptom presentation. Differing phenotypes, psychiatric co-morbidities, and level of “camouflaging” (behavioral coping strategies to conceal symptoms for use in social situations) are thought to further contribute to the discrepancy in prevalence rates and resulting misdiagnosis or delayed diagnosis in adolescent females and women. Summary Both nosological and cultural factors appear to be contributing to differences in the diagnosis of ASD in women. These differences in presentation have important implications for late diagnosis, treatment of ASD, and the quality of life for women with autism.

Increasing evidence suggests a role for inflammation in neuropsychiatric conditions including autism spectrum disorder (ASD), a neurodevelopmental syndrome with higher prevalence in males than females. Here we examined the effects of early-life immune system activation (EIA)—comprising regimens of prenatal, early postnatal, or combined (“two-hit”) immune activation—on the core behavioral features of ASD (decreased social interaction, increased repetitive behavior, and aberrant communication) in C57BL/6J mice. We treated timed-pregnant mice with polyinosinic:polycytidylic acid (Poly I:C) on gestational day 12.5 to produce maternal immune activation (MIA). Some offspring also received lipopolysaccharide (LPS) on postnatal day 9 to produce postnatal immune activation (PIA). EIA produced disruptions in social behavior and increases in repetitive behaviors that were larger in males than in females. Ultrasonic vocalizations (USVs) were altered in both sexes. Molecular studies revealed that EIA also produced prominent sex-specific changes in inflammation-related gene expression in the brain. Whereas both sexes showed increases in pro-inflammatory factors, as reflected by levels of mRNA and protein, expression of anti-inflammatory factors was decreased in males but increased in females. Our findings demonstrate that EIA can produce sex-specific behavioral effects and immune responses in the brain, and identify molecular processes that may contribute to resilience in females.

Sleep has numerous advantages for aligning clinical and preclinical (basic neuroscience) studies of neuropsychiatric illness. Sleep has high translational relevance, because the same endpoints can be studied in humans and laboratory animals. In addition, sleep experiments are conducive to continuous data collection over long periods (hours/days/weeks) and can be based on highly objective neurophysiological measures. Here, we provide a translationally-oriented review on what is currently known about sleep in the context of autism spectrum disorder (ASD), including ASD-related conditions, thought to have genetic, environmental, or mixed etiologies. In humans, ASD is frequently associated with comorbid medical conditions including sleep disorders. Animal models used in the study of ASD frequently recapitulate dysregulation of sleep and biological (diurnal, circadian) rhythms, suggesting common pathophysiologies across species. As our understanding of the neurobiology of ASD and sleep each become more refined, it is conceivable that sleep-derived metrics may offer more powerful biomarkers of altered neurophysiology in ASD than the behavioral tests currently used in humans or lab animals. As such, the study of sleep in animal models for ASD may enable fundamentally new insights on the condition and represent a basis for strategies that enable the development of more effective therapeutics.

Background The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings. This work aims to empower healthcare providers, especially primary care providers (PCPs), with guidelines for the recognition and safe pharmacologic management of common co-occurring psychiatric and behavioral conditions in ASD. Methods Lurie Center for Autism medical providers, who have extensive experience in ASD care, delineated approaches for recognition and pharmacological treatment of sleep disturbances, attention-deficit/hyperactivity disorder (ADHD), anxiety, depression, and irritability tailored to ASD patients. Pharmacological guidelines were iteratively refined until consensus was reached. Treatment differences relative to standard of care (SOC) of non-autistic individuals are noted. Key literature and clinical trial results were reviewed to supplement clinical experience. Results The pharmacological treatment pathways reflect how appropriate medication options for ASD patients can depend on many factors unique to the patient and can differ from established non-autistic SOC. Key takeaways include: For sleep disturbances in ASD, initial strategies align with non-autistic SOC, emphasizing sleep hygiene and melatonin use. First-line recommendations for treating ADHD, anxiety, and depression in ASD differ from non-autistic SOC; α 2 -adrenergic agonists are more suitable than stimulants for some ASD-ADHD patients, buspirone and mirtazapine are preferred to selective serotonin reuptake inhibitors (SSRIs) for anxiety, and duloxetine, mirtazapine, bupropion, and vortioxetine are recommended ahead of SSRIs for depression. Addressing irritability in ASD requires interdisciplinary evaluation of contributing factors, and guanfacine, risperidone, or aripiprazole may be appropriate, depending on severity. Conclusions Recognition and treatment of co-occurring psychiatric and behavioral conditions in autistic patients must account for differences in clinical presentation and medication effectiveness and tolerability. Drawing on evidence-based clinical insights, these guidelines seek to support PCPs in making informed decisions when prescribing medications for ASD patients with co-occurring psychiatric and behavioral conditions, ultimately enhancing access to timely, comprehensive care for all individuals with ASD.

We explored patterns of concomitant psychiatric disorders in a large sample of treatment-seeking children and adolescents with autism spectrum disorder (ASD). Participants were 658 children with ASD (age 3–17 years; mean = 7.2 years) in one of six federally-funded multisite randomized clinical trials (RCT) between 1999 and 2014. All children were referred for hyperactivity or irritability. Study designs varied, but all used the Child and Adolescent Symptom Inventory or Early Childhood Inventory to assess Attention Deficit Hyperactivity Disorder (ADHD), Oppositional-Defiant Disorder (ODD), Conduct Disorder (CD), Anxiety Disorders, and Mood Disorders. In addition, several measures in common were used to assess demographic and clinical characteristics. Of the 658 children, 73% were Caucasian and 59% had an IQ >70. The rates of concomitant disorders across studies were: ADHD 81%, ODD 46%, CD 12%, any anxiety disorder 42%, and any mood disorder 8%. Two or more psychiatric disorders were identified in 66% of the sample. Of those who met criteria for ADHD, 50% also met criteria for ODD and 46% for any anxiety disorder. Associations between types of concomitant disorders and a number of demographic and clinical characteristics are presented. In this well-characterized sample of treatment-seeking children with ASD, rates of concomitant psychiatric disorders were high and the presence of two or more co-occurring disorders was common. Findings highlight the importance of improving diagnostic practice in ASD and understanding possible mechanisms of comorbidity. •We observed a high frequency of multiple concomitant DSM-defined disorders.•50% of children who met criteria for ADHD also met criteria for ODD.•46% of children who met criteria for ADHD also met criteria for an anxiety disorder.•Findings highlight the importance of improving diagnostic practices in ASD.

Adults with autism spectrum disorder (ASD) are at risk for excess bodyweight and hypertension, yet the prevalence of and clinical predictors for these health conditions remain unknown. The objective of this study was to assess the prevalence of overweight, obesity, and hypertension in a large clinical sample of adults with a confirmed diagnosis of ASD and to examine potential clinical predictors. This retrospective chart review study included adult subjects (≥ 20 years) with ASD who had been seen within the past 5 years at a multidisciplinary developmental disorders clinic. Data collected from the electronic health record included age, sex, race and ethnicity, cognitive ability, language ability, body mass index (BMI), hypertension, and use of second generation antipsychotic medications (SGAs). Of 622 adults with a confirmed diagnosis of ASD potentially eligible for the study, 483 (78%) had one or more notes in their records from the past 5 years. Those with recent notes were 23% female, 89% White, and had a mean (SD) age of 28.1 (7.1) years. Overall prevalence estimates for adults represented by this predominantly male, White, and young clinical sample were 28% (95% CI 24%, 32%) for overweight (BMI 25–29.9 kg/m 2 ), 35% (95% CI 31%, 40%) for obesity (≥ 30 kg/m 2 ), and 11% (95% CI 9%, 15%) for hypertension. Controlling for age and sex, intellectual disability (ID) was significantly associated with BMI (p = 0.003) but not hypertension (p = 0.69); those with moderate or more severe ID had a mean BMI that was 2.26 kg/m 2 (95% CI 0.96, 3.57) lower than those with no ID. Controlling for age and sex, neither language ability, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) subtype of autism, nor past or current use of SGAs were significantly associated with BMI or hypertension. The study identified a high prevalence of overweight and obesity in adults with ASD consistent with the prevalence of these medical comorbidities in the U.S. population.

The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children’s Y-BOCS, the Yale Global Tic Severity Scale, the Stereotyped Behavior Scale, and the Spence Children’s Anxiety Scale–Parent Version. Nineteen males and 41 females participated in the study. Six subjects (10%) had obsessions only, six (10%) had compulsions only, and eleven (18%) had at least one obsession and at least one compulsion. None of the subjects had tics. Fifty subjects (83.3%) endorsed at least one stereotypy. Increased anxiety was associated with increased severity of obsessions, but not severity of compulsions or stereotypies.

The understanding of speech production and its fine-motor underpinnings in individuals with autism spectrum disorder (ASD) has become an area of growing interest in clinical research. Here, we developed objective acoustic-based measures to characterize and contrast the respiratory, laryngeal, and articulatory vocal production subsystems based on data from 27 adults with minimally-verbal autism spectrum disorder (mv-ASD) relative to 27 age-matched neurotypical (NT) peers. The complexity of representative movement dynamics of each subsystem was determined through signal correlation analysis, associated with degrees of freedom derived from correlation structure. As proxies to underlying speech production, we used base features of signal envelope, pitch and formant trajectories associated with each subsystem, respectively, along with their velocities. In addition, we examined cepstral peak prominence and mel-frequency cepstral coefficients, associated with laryngeal and articulatory systems, widely used in assessing voice and speech in neurological and pathological conditions. With speech data from a protocol consisting of diadochokinetic sequencing (DDK), and three different single-word tasks of varying cognitive load (Imitation, Naming, Reading), we studied complexity of motor dynamics at group and individual levels under each task condition. At group level, mv-ASDs showed lower complexity than NT participants for the respiratory and laryngeal subsystems and, except for the DDK task, higher complexity for the articulatory subsystem. At the individual level, there is a range of complexity consistent with mv-ASD heterogeneity. Using Pearson and Spearman correlation measures, we correlated our subsystem characterization with measures of non-verbal IQ, expressive and receptive vocabulary, visual-motor integration, and fine motor dexterity to understand the clinical relevance of these acoustic features, as well as the effect of outliers. When combining mv-ASD and NT groups, articulatory base features were most consistent in correlating with expressive vocabulary across tasks, compared to respiratory and laryngeal features. The Pearson-based association holds within the mv-ASD group alone for the single-word tasks. Continued understanding of speech and language challenges of individuals with mv-ASD reflected in metrics of each of the three speech production subsystems (respiratory, laryngeal, and articulatory) and their relationship with standardized motor, cognitive, and language assessments, will promote design of functionally-tailored personalized and clinically acceptable interventions.

Research associating the increased prevalence of familial autoimmunity with neuropsychiatric disorders is reliant upon the ascertainment of history of autoimmune diseases from relatives. To characterize the accuracy of self-report, we compared self-reported diagnoses of 18 autoimmune diseases using an online self-report questionnaire to the electronic medical record (EMR) diagnoses in 1,013 adult (age 18-70 years) patients of a primary care clinic. For the 11 diseases meeting our threshold observed prevalence, we estimated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for self-reported diagnoses under the assumption that EMR-based diagnoses were accurate. Six diseases out of 11 had either sensitivity or PPV below 50%, with the lowest PPV for dermatological and endocrinological diseases. Common errors included incorrectly self-reporting type 2 diabetes mellitus (DM), when type 1 DM was indicated by the EMR, and reporting rheumatoid arthritis when osteoarthritis was indicated by the EMR. Results suggest that ascertainment of familial autoimmunity through self-report contributes to inconsistencies and inaccuracies in studies of autoimmune disease history and that future studies would benefit from incorporating EMR review and biological measures.