A guide to autism spectrum disorders.
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Age of Onset↗
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The prevalence and causes of autistic spectrum disorders.
Autism and autistic spectrum disorders are still relatively poorly understood. This article outlines the results of new research into the prevalence of autism and into the causes of the condition and highlights implications for nurses from the findings.
Asperger Syndrome↗
Update on the language disorders of individuals on the autistic spectrum.
Inadequate language is a defining feature of the autism spectrum disorders (autism). Autism is a behaviorally and dimensionally defined developmental disorder of the immature brain that has a broad range of severity and many etiologies, with multiple genes involved. Early studies, which focused on the language of verbal children on the autistic spectrum, emphasized aberrant features of their speech such as unusual word choices, pronoun reversal, echolalia, incoherent discourse, unresponsiveness to questions, aberrant prosody, and lack of drive to communicate. Persistent lack of speech of some individuals was attributed to the severity of their autism and attendant mental retardation rather than possible inability to decode auditory language. Clinical study of unselected children with autism indicated that the language deficits of preschoolers fall into two broad types, perhaps with subtypes, those that involve reception and production of phonology (sounds of speech) and syntax (grammar), and those that do not but involve semantics (meaning) and pragmatics (communicative use of language, processing, and production of discourse). Except for the preschoolers' universally deficient pragmatics and comprehension of speech, many of their language deficits parallel those of non-autistic preschoolers with developmental language disorders. There is now biological support for the clinical observation that young autistic children are language disordered as well as autistic. Recent electrophysiological studies disclose auditory input abnormalities in lateral temporal cortex even in verbal individuals on the autistic spectrum. Severe receptive deficits for phonology enhance the risk for epilepsy. Genetic studies indicate that linkage to chromosome 7q31-33 is limited to families with evidence for phonologic impairment as well as autism. Clearly, social and cognitive disorders alone provide an inadequate explanation for the range of language deficits in autism.
Auditory Perception↗
Taxometrics and developmental psychopathology.
Developmental psychopathologists have criticized categorical classification systems for their inability to account for within-group heterogeneity in biological, etiological. developmental, and cultural influences on behavior. Dichotomizing continuous scores of symptom severity is also inadvisable statistically. Perhaps because of a resulting wariness of categorizing, few explorations into the ontological status of traits or disorders as dimensional versus discrete have been conducted. It is argued here that the limitations of categorizing have little to do with the ontological status of traits and that developmental psychopathologists should be concerned with identifying discrete behavioral syndromes. Common taxometric methods for resolving discrete traits are described, and questions of concern to developmental psychopathologists are outlined that can be addressed through taxometrics studies. These include (a) identifying children who are at risk for future psychopathology, (b) identifying discrete subtypes within current diagnostic classes, (c) locating sensitive periods in the development of discrete pathological traits, (d) discovering moderators of treatment outcome, and (e) elucidating mechanisms of equifinality and multifinality. Although most behavioral traits probably are distributed continuously, identifying those that are discrete will advance the science of developmental psychopathology. Disorders for which taxometric analyses might be applied include anxiety, attention deficit hyperactivity disorder, autism spectrum disorders, conduct problems, depression, and schizophrenia.
Algorithms↗
Genome-wide analysis of screen behaviors among adolescents identifies novel loci and overlap with educational attainment and mental disorders.
Technological devices play a central role in adolescents' life. Despite concerns about negative effects of excessive screen time, there is little knowledge of screen behaviors' genetic architecture. Using self-reports from adolescents in the Norwegian Mother, Father, and Child Cohort Study (n = 18,490), we performed genome-wide association analysis for four screen behaviors: time spent (1) watching television; (2) gaming; (3) sitting/lying down with a screen device; and (4) using social media. The resulting summary statistics were analysed using the conditional false discovery rate (condFDR) approach to increase genetic discovery. We also estimated SNP-heritabilities of the screen behaviors and genetic correlations with eight psychiatric disorders (schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorder, attention-deficit hyperactivity disorder, anorexia nervosa, cannabis use disorder and alcohol use disorder), and educational attainment. Screen behaviors displayed significant SNP-heritabilities (0.048-0.12). We observed significant genetic correlations between screen behaviors and psychiatric disorders (rg range: 0.21-0.42). Educational attainment demonstrated negative genetic correlation with screen behaviors, most strongly with social media use (rg = - 0.69). CondFDR analysis identified three novel loci associated with social media use. Thus, we show that screen behaviors are heritable, polygenic traits that partly share genetic signal with mental disorders and educational attainment.
Humans↗
Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.
ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmental delay; however, the mode of inheritance remains uncertain, and most published cases have focused on heterozygous variants in the context of a possible dominant or susceptibility model. We report a 5-year-old boy with neurodevelopmental delay, skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing analysis was nondiagnostic. Reanalysis after 6 months identified two rare predicted loss-of-function variants in ABCA13 in trans: c.2510del, p.(Leu837TyrfsTer21), a frameshift variant, and c.12064C>T, p.(Arg4022Ter), a nonsense variant previously reported in a patient with unexplained intellectual disability. The identification of compound heterozygous predicted loss-of-function variants supports the possibility that biallelic disruption of ABCA13 may contribute to neurodevelopmental disease, whereas previously reported heterozygous variants may represent incompletely penetrant risk alleles, susceptibility factors, or candidate findings rather than fully penetrant dominant causes. This case expands the emerging clinical and genetic spectrum associated with ABCA13 and supports further evaluation of a recessive model in patients with intellectual disability and neurodevelopmental delay.
ABCA13↗
[Adult psychiatry does not recognize child neuropsychiatric disorders. A registry study shows discrepancy between expected and real number of cases].
To identify the group of patients with presumed special needs in adult psychiatry, a list survey was made covering 11 months of diagnostic work in adult psychiatry with a catchment area of 213,000 inhabitants. The survey was made in the urban setting of Gothenburg. During the period of observation, 6,386 patients were diagnosed. Among them 156 (2.4%) were diagnosed with a neuropsychiatric diagnosis of attention deficit hyperactivity disorder, autism spectrum disorders, disorders associated with Tourette's syndrome or mental retardation. The adult psychiatric hospital care does not recognize child neuropsychiatric disorders in the patient population by the frequency the disorders presumably appear. This is especially clear in the group of patients with a combination of narcotic substance abuse and psychiatric symptoms.
Adult↗
Ten-year follow-up of adolescent-onset anorexia nervosa: personality disorders.
OBJECTIVE: To study the development of personality disorders, especially those involving obsessions, compulsions, and social interaction problems, in a representative group of anorexia nervosa (AN) cases. METHOD: The prevalence of personality disorders, obsessive-compulsive disorder, and autism spectrum disorders at mean age 24 years (10 years after reported onset) was examined in 51 adolescent-onset AN cases recruited after community screening and 51 comparison cases matched for age, sex, and school. All 102 cases had originally been examined at age 16 years and followed up at 21 years. At 24 years, structured and validated psychiatric diagnostic interviews were performed by a psychiatrist who was blind to original diagnosis. The majority of AN cases (94%) were weight-restored. RESULTS: Personality disorders, particularly cluster C, and autism spectrum disorders were overrepresented in the AN group. Obsessive-compulsive personality disorder and/or autism spectrum disorder was diagnosed in a subgroup of AN cases in all 3 studies. This subgroup had a very poor psychosocial outcome. CONCLUSIONS: Persistent problems with obsessions, compulsions, and social interaction characterized a substantial minority of weight-restored AN cases at 10-year follow-up. These problems appear to be constitutional rather than a result of AN, and they may warrant a different treatment approach.
Adolescent↗
Untargeted metabolomics and proteomics reveals cocoa-mediated mitigation of valproic acid-induced dysregulation in a zebrafish model of autism: pilot study.
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by behavioral impairments and limited therapeutic options. Emerging evidence suggests that plant-derived polyphenols may offer neuroprotective benefits. OBJECTIVES: This pilot study aimed to investigate the therapeutic potential of polyphenol-rich cocoa extract in a valproic acid (VPA)-induced zebrafish model of ASD. METHODS: Zebrafish were exposed to 3 μM VPA, cocoa powder providing 2.5 μM (-)-epicatechin, a combination of both, or left untreated. Behavioral phenotyping was conducted using DanioVision and gut morphology was assessed. Untargeted metabolomic and proteomic profiling was performed followed by univariate and multivariate analyses. RESULTS: VPA exposure induced ASD-like behavioral hyperactivity, and severe gastrointestinal abnormalities. Cocoa co-treatment ameliorated both behavioral performance and gut architecture. Metabolomic profiling revealed VPA-associated disruptions in neurotransmission, methylation, mitochondrial function and redox homeostasis. Proteomic profiling showed elevated levels of trafficking protein particle complex subunit 11, proteasomal ubiquitin receptor, betaine-homocysteine S-methyltransferase 1 (BHMT-1), and desmoplakin-A, consistent with genotoxic stress and impaired protein trafficking. Cocoa co-treatment normalized BHMT-1 and desmoplakin-A expression and mitigated broader metabolic dysregulation. CONCLUSION: Collectively, these results suggest that polyphenol-rich cocoa may represent a promising multi-targeted nutraceutical approach for mitigating ASD-related neurodevelopmental and metabolic disturbances.
Animals↗
[Best practice guidelines for the diagnosis of autistic spectrum disorders].
INTRODUCTION: The autism spectrum disorder (ASD) diagnostic process requires expertise both in the knowledge of autism as in teamwork strategies with different professionals, often working in different clinic services, and with parents. AIM: To recommend a consensus diagnostic procedure for ASD, that has been designed by the Study Group of the Instituto de Salud Carlos III. DEVELOPMENT: The reports emphasize the need to obtain a complete clinical history, covering personal, family and psychosocial antecedents; detailing the basic areas affected in ASD--social interaction, communication and restricted patterns of behaviour, activities and interests. Diagnostic tests to be used as a routine in all cases are described and analysed--including both psychoeducational and biomedical tests. Also, tests indicated in cases with suspected identifiable physical disorders are covered, as well as those medical tests to be used for research purposes only. CONCLUSION: The diagnostic procedure requires the implementation of a coordinated interdisciplinary assessment strategy, that needs to ensure the participation of professionals from very different fields in active collaboration with the family. Their role culminates in the preparation and delivery of a personalized report. Every diagnostic procedure needs to be accompanied by an action plan that includes immediate support to the person with ASD, as well as information to the family on resources and community initiatives in their living area.
Humans↗
Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient.
BACKGROUND: The concept of the 'broad phenotype' of autism refers to the finding that relatives of people with autism often have mild forms of autistic-like characteristics, such as social and communicative difficulties. This study used the Autism Spectrum Quotient (AQ), a questionnaire devised to assess features of the broad phenotype in adults, with parents of people with autism, to see whether they would be more likely to obtain extreme scores than a control group. METHODS: The AQ was administered to parents of 69 people with an autism spectrum disorder and parents of 52 controls. RESULTS: On two of the five subscales of the AQ, social skills and communication, parents of people with autism obtained higher scores than control parents. The other three scales, attention to detail, attention switching, and imagination, did not differentiate groups. The correlation between social skills and communication scales was .663. The scales can be combined to give an index of broad phenotype. CONCLUSIONS: The AQ appears to be sensitive to the broad phenotype, provided attention is restricted to the social skills and communication scales.
Adult↗
Variation in incidence of neurodevelopmental disorders with season of birth.
BACKGROUND: The etiologies of autism spectrum disorder and many neurodevelopmental disorders are largely unknown. The detection of a seasonal variation of birth of children diagnosed with a certain disorder could suggest etiological factors that follow a seasonal pattern. We examined the seasonal variation of births of children diagnosed with any of 4 common childhood neuropsychiatric disorders: autism spectrum disorder, hyperkinetic disorder, Tourette syndrome, and obsessive-compulsive disorder. METHODS: The study cohort consisted of all children born in Denmark from 1990 through 1999 identified in the Danish Medical Birth Register (n = 669,995). Outcome data consisted of both inpatient and outpatient diagnoses reported to the Danish National Psychiatric Registry from 1995 through 2004 using the International Classification of Diseases, 10th edition, diagnostic coding system. Logistic regression combined with spline (a smoothing method) was used to estimate the variation with season of birth for each disorder. Estimates of risk of each disorder with season of birth were adjusted for differences in follow-up time and change in incidence over time. RESULTS: No convincing variations in season of birth were observed for any of the 4 disorders, or for the autism-spectrum-disorder subtypes. CONCLUSION: Although we cannot rule out the possibility of seasonal variation of birth for a range of childhood neurodevelopmental disorders, we find little evidence that seasonal environmental factors are related to these disorders.
Attention Deficit Disorder with Hyperactivity↗
[Investigation of childhood neuropsychiatric disorders in adults often desirable. Functional disabilities can result in social maladjustment].
So-called child neuropsychiatric disorders (ADHD/DAMP, autism spectrum disorders, Tourette's syndrome) are being recognized with increasing frequency in child and adolescent psychiatry. Through follow-up studies, case reports and autobiographical accounts it has become evident that these disorders often persist into adulthood, and the need for diagnostic evaluation of adults is increasing. The Neuropsychiatric Diagnostic Team for Adults in Lund, Sweden, was established in 1998 to meet this need. 228 adults, mostly 18-30 years old, have completed the diagnostic process, resulting in one of the above-mentioned diagnoses in 64%. 80 patients had ADHD/DAMP, 59 had autism spectrum disorders and 7 had Tourette's syndrome. The diagnostic process involves clinical interviews and observation, neuropsychological evaluation and, if possible, a parent interview. So far, the impact on quality of life of a child neuropsychiatric diagnosis received in adulthood is not known. Follow-up studies are needed.
Adolescent↗
Genetically predicted childhood traits and parental health and risk of pediatric psychiatric disorders: A 2-sample Mendelian randomization study.
The etiology of pediatric psychiatric disorders is complex, involving intergenerational influences and a child's own developmental health. We aimed to investigate the potential effects of genetically predicted childhood traits (childhood obesity, absence epilepsy, intelligence) and parental health traits (longevity, Alzheimer disease, severe depression) on the risk of several childhood and adolescent psychiatric disorders. We employed a 2-sample Mendelian randomization (MR) design using summary statistics from large-scale genome-wide association studies. Data for parental health exposures were primarily from the UK Biobank. Data for childhood trait exposures were from various consortia. Data for outcomes - conduct disorder, mixed conduct and emotional disorders, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and broader behavioral/emotional and social disorders - were sourced from FinnGen and the Psychiatric Genomics Consortium, among others. We used the inverse-variance weighted method for the primary analysis, with MR-Egger, weighted median, and weighted mode as additional analyses. To test the robustness of the results, we conducted sensitivity analyses using MR-Egger regression, Cochran Q test for heterogeneity, the MR-pleiotropy residual sum and outlier test, and a leave-one-out analysis. Genetic liability for childhood obesity was associated with an increased risk of ASD (odds ratio = 1.06, P = .016) and ADHD (odds ratio = 1.09, P = .026), even though these associations did not withstand multiple testing correction. No other robust, statistically significant causal associations were identified. Sensitivity analyses showed limited evidence of bias from horizontal pleiotropy for the main findings. Our findings provide MR evidence supporting potential links from genetic liability for childhood obesity to increased risks of ASD and ADHD. These results highlight the importance of considering a child's early-life health trajectory in the etiology of pediatric psychiatric disorders.
Humans↗
Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.
Although the precise underlying cause(s) of autism spectrum disorder remain unclear, more than 1000 rare genetic variations are associated with the condition. For many people living with profound autism, this genetic heterogeneity has impeded the identification of common biological targets for therapy development for core and comorbid traits that include significant impairments in social communication and repetitive and restricted behaviors. A substantial number of genes associated with autism encode proteins involved in signal transduction and synaptic transmission that are critical for brain development and function. CAMK4 is an emerging risk gene for autism spectrum disorder that encodes the CaMK4 (calcium/calmodulin-dependent protein kinase 4) enzyme. CaMK4 is a key component of a Ca2+-activated signaling pathway that regulates neurodevelopment and synaptic plasticity. In this review, we discuss 3 genetic variants of CAMK4 found in individuals with hyperkinetic movement disorder and comorbid neurological symptoms including autism spectrum disorder that are likely pathogenic with monogenic effect. We also comment on 4 other genetic variations in CAMK4 that show associations with autism spectrum disorder, as well as 12 examples of autism-associated variations in other genes that impact CaMK4 signaling pathways. Finally, we highlight 3 environmental risk factors that impact CaMK4 signaling based on studies of preclinical models of autism and/or clinical cohorts. Overall, we review molecular, genetic, physiological, and environmental evidence that suggest that defects in the CaMK4 signaling pathway may play an important role in a common autism pathogenesis network across numerous patient groups, and we propose CaMK4 as a potential therapeutic target.
Humans↗
Selective serotonin reuptake inhibitors in autism: a review of efficacy and tolerability.
BACKGROUND: Awareness of the impact and prevalence of autism spectrum disorders has significantly increased in recent years. Given the dearth of reliable interventions, there is great interest in demonstrating efficacy of the various treatment options. A growing body of evidence links autism spectrum disorders to abnormalities in serotonin function, and the selective serotonin reuptake inhibitors (SSRIs) have been utilized to target various symptoms of the disorders. This article reviews the available data on the efficacy and tolerability of SSRIs in individuals with autism spectrum disorders. Objectives for future research in this area will also be suggested. DATA SOURCES AND STUDY SELECTION: The entire PubMed database including MEDLINE (1966-July 2005) was searched for English-language biomedical articles. Search terms included autism, autism spectrum disorder, citalopram, escitalopram, fluoxetine, fluvoxamine, paroxetine, pervasive developmental disorder, selective serotonin reuptake inhibitors, and sertraline. All clinical trials evaluating treatment outcomes associated with the use of SSRIs in managing symptoms of autism that were identified in the search were reviewed. All randomized controlled trials and open-label trials were included in this review. Case reports and case series were excluded. DATA SYNTHESIS: We identified 3 randomized controlled trials and 10 open-label trials or retrospective chart reviews on the use of SSRIs in autism and autism spectrum disorders. The SSRIs that have been studied in autism spectrum disorders are citalopram, escitalopram, fluoxetine, fluvoxamine, and sertraline. Most studies demonstrate significant improvement in global functioning and in symptoms associated with anxiety and repetitive behaviors. While side effects were generally considered to be mild, increased activation and agitation occurred in some subjects. CONCLUSIONS: Although SSRIs may demonstrate therapeutic benefit in autism spectrum disorders, methodological weaknesses of many of the clinical trials suggest the need for additional randomized controlled trials. Furthermore, given the increased awareness of the dangers associated with SSRI-induced activation and agitation, the presence of these side effects in the autistic population warrants closer attention to dosage, titration, and subject selection issues.
Adolescent↗
Comorbid psychiatric disorders in children with autism: interview development and rates of disorders.
The Kiddie Schedule for Affective Disorders and Schizophrenia was modified for use in children and adolescents with autism by developing additional screening questions and coding options that reflect the presentation of psychiatric disorders in autism spectrum disorders. The modified instrument, the Autism Comorbidity Interview-Present and Lifetime Version (ACI-PL), was piloted and frequently diagnosed disorders, depression, ADHD, and OCD, were tested for reliability and validity. The ACI-PL provides reliable DSM diagnoses that are valid based on clinical psychiatric diagnosis and treatment history. The sample demonstrated a high prevalence of specific phobia, obsessive compulsive disorder, and ADHD. The rates of psychiatric disorder in autism are high and are associated with functional impairment.
Adolescent↗
Autism and tuberous sclerosis.
The co-occurrence of autism spectrum disorder and tuberous sclerosis complex has been recognized for decades. The prevalence of tuberous sclerosis complex in the autism spectrum disorder population is 1 to 4%, whereas features of autism spectrum disorder are present in 25 to 50% of individuals with tuberous sclerosis complex. The underlying reason for this association might be a nonspecific disruption of brain function owing to tuberous sclerosis complex, including tuber location, seizures and their effect on brain development, cognitive impairment, a disturbance in brain development in regions associated with autism spectrum disorder, or, less likely, a linkage between a TSC gene and an autism susceptibility gene. Awareness of the relationship between autism spectrum disorder and tuberous sclerosis complex is important during the evaluation of individuals with either disorder. Better delineation of the association and its causative factors is needed for the development of possible interventions.
Autistic Disorder↗