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PubMed2000

Autism and Asperger syndrome: coexistence with other clinical disorders.

OBJECTIVE: : To provide a clinically useful analysis of the extent to which autism and Asperger syndrome coexist with other disorders. METHOD: Selective review of the literature detailing data pertaining to symptoms and disorders sometimes encountered in connection with autism or Asperger syndrome. RESULTS: A large number of medical conditions, psychiatric disorders and behavioural and motor dyscontrol symptoms are associated with autism and Asperger syndrome. CONCLUSION: Comorbidity is to be expected in autism spectrum disorders -directly or indirectly. Comorbid conditions may be markers for underlying pathophysiology and suggest a more varied treatment approach. There is a great need for in-depth research into this area, meaning that the exclusion criteria of current diagnostic manuals, i.e. those that rule out a diagnosis of autism in some disorders, and a diagnosis of certain other disorders in autism may have to be revised.

Age Factors↗
PubMed2004

Diagnosing and treating comorbid (complicated) bipolar disorder.

Comorbidity is the rule, not the exception, in bipolar disorder. The most common mental disorders that co-occur with bipolar disorder in community studies include anxiety, substance use, and conduct disorders. Disorders of eating, sexual behavior, attention-deficit/hyperactivity, and impulse control, as well as autism spectrum disorders and Tourette's disorder, co-occur with bipolar disorder in clinical samples. The most common general medical comorbidities are migraine, thyroid illness, obesity, type II diabetes, and cardiovascular disease. Bipolarity is a marker for comorbidity, and comorbid disorders, especially multiple conditions occurring when a patient is young, may be a marker for bipolarity. Relatively few controlled clinical studies have examined the treatment of bipolar disorder in the context of comorbid conditions (i.e., complicated or comorbid bipolar disorder). However, the first step in treating any type of complicated bipolar disorder--stabilizing a patient's mood--may be associated with improving the comorbid disorder. Standard mood stabilizers, atypical antipsychotics, and non-antimanic antiepileptic agents are emerging as potentially useful treatments for several of the disorders that frequently co-occur with bipolar disorder, and therefore may be useful treatments for comorbid bipolar disorder.

Adolescent↗
PubMed2006

Advancing paternal age and autism.

CONTEXT: Maternal and paternal ages are associated with neurodevelopmental disorders. OBJECTIVE: To examine the relationship between advancing paternal age at birth of offspring and their risk of autism spectrum disorder (ASD). DESIGN: Historical population-based cohort study. SETTING: Identification of ASD cases from the Israeli draft board medical registry. PARTICIPANTS: We conducted a study of Jewish persons born in Israel during 6 consecutive years. Virtually all men and about three quarters of women in this cohort underwent draft board assessment at age 17 years. Paternal age at birth was obtained for most of the cohort; maternal age was obtained for a smaller subset. We used the smaller subset (n = 132 271) with data on both paternal and maternal age for the primary analysis and the larger subset (n = 318 506) with data on paternal but not maternal age for sensitivity analyses. MAIN OUTCOME MEASURES: Information on persons coded as having International Classification of Diseases, 10th Revision ASD was obtained from the registry. The registry identified 110 cases of ASD (incidence, 8.3 cases per 10 000 persons), mainly autism, in the smaller subset with complete parental age data. RESULTS: There was a significant monotonic association between advancing paternal age and risk of ASD. Offspring of men 40 years or older were 5.75 times (95% confidence interval, 2.65-12.46; P<.001) more likely to have ASD compared with offspring of men younger than 30 years, after controlling for year of birth, socioeconomic status, and maternal age. Advancing maternal age showed no association with ASD after adjusting for paternal age. Sensitivity analyses indicated that these findings were not the result of bias due to missing data on maternal age. CONCLUSIONS: Advanced paternal age was associated with increased risk of ASD. Possible biological mechanisms include de novo mutations associated with advancing age or alterations in genetic imprinting.

Adult↗
PubMed2004

Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment.

Autism is a severe developmental disorder of unknown etiology but with evidence for genetic influences. Here, we provide evidence for a genetic basis of several quantitative traits that are related to autism. These traits, from the Broader Phenotype Autism Symptom Scale (BPASS), were measured in nuclear families, each ascertained through two probands affected by autism spectrum disorder. The BPASS traits capture the continuum of severity of impairments and may be more informative for genetic studies than are the discrete diagnoses of autism that have been used by others. Using a sample of 201 nuclear families consisting of a total of 694 individuals, we implemented multivariate polygenic models with ascertainment adjustment to estimate heritabilities and genetic and environmental correlations between these traits. Our ascertainment adjustment uses conditioning on the phenotypes of probands, requires no modeling of the ascertainment process, and is applicable to multiplex ascertainment and multivariate traits. This appears to be the first such implementation for multivariate quantitative traits. The marked difference between heritability estimates of the trait for language onset with and without an ascertainment adjustment (0.08 and 0.22, respectively) shows that conclusions are sensitive to whether or not an ascertainment adjustment is used. Among the five BPASS traits that were analyzed, the traits for social motivation and range of interest/flexibility show the highest heritability (0.19 and 0.16, respectively) and also have the highest genetic correlation (0.92). This finding suggests a shared genetic basis of these two traits and that they may be most promising for future gene mapping and for extending pedigrees by phenotyping additional relatives.

Adolescent↗
PubMed2025

Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.

Neurodevelopmental disorders (NDDs) include a broad spectrum of phenotypes spanning from intellectual disability (ID) to developmental delay (DD) and autism spectrum disorder (ASD). As neurodevelopmental phenotypes are a common presenting feature of an underlying genetic condition, professional medical organizations recommend genetic testing for all individuals with a NDD. When testing is pursued, identified genetic differences can lead to personalized clinical management with early diagnosis supporting the development of surveillance and intervention for co-occurring adverse health outcomes. Despite this, barriers to testing have prevented individuals from receiving a genetics referral and testing. Current therapeutic modalities including small molecule drugs, gene therapies, and antisense oligonucleotide therapies have emerged and shown promise in preclinical trials with therapeutic drugs gaining FDA approval. However, translational challenges are extensive, especially for identifying biomarkers of drug effects in the CNS. In this review, we discuss diagnostic approaches and clinical utility of genetic testing for rare genetic neurodevelopmental disorders, emerging development of individualized therapies, and progress for current therapeutics in addition to challenges with clinical translation and delivery. We will highlight opportunities for early diagnosis and treatment that are steadily gaining ground in favor of optimizing long-term health outcomes and improving quality of life for neurodiverse individuals. IMPACT: The path from genomics to therapeutics for neurodevelopmental disorders continues to present multiple opportunities and challenges. While emerging genome-wide sequencing and gene editing technologies deliver increased diagnostic yields and alternatives to life-long small molecule therapies, clinical translation has been challenging due to inherent cost and genetic heterogeneity. Limited access to genetic testing despite practice guidelines remains a barrier towards precision therapeutics for rare neurodevelopmental disorders, while pre-clinical investigations face obstacles when translating to human subjects. This review will summarize the impact of existing successes in diagnosis and therapeutics for neurodevelopmental disorders while highlighting ongoing challenges and areas of future opportunities.

Humans↗
PubMed2003

Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction.

Common genetic disorders are believed to arise from the combined effects of multiple inherited genetic variants acting in concert with environmental factors, such that any given DNA sequence variant may have only a marginal effect on disease outcome. As a consequence, the correlation between disease status and any given DNA marker allele in a genomewide linkage study tends to be relatively weak and the implicated regions typically encompass hundreds of positional candidate genes. Therefore, new strategies are needed to parse relatively large sets of 'positional' candidate genes in search of actual disease-related gene variants. Here we use biological databases to identify 383 positional candidate genes predicted by genomewide genetic linkage analysis of a large set of families, each with two or more members diagnosed with autism, or autism spectrum disorder (ASD). Next, we seek to identify a subset of biologically meaningful, high priority candidates. The strategy is to select autism candidate genes based on prior genetic evidence from the allelic association literature to query the known transcripts within the 1-LOD (logarithm of the odds) support interval for each region. We use recently developed bioinformatic programs that automatically search the biological literature to predict pathways of interacting genes (PATHWAYASSIST and GENEWAYS). To identify gene regulatory networks, we search for coexpression between candidate genes and positional candidates. The studies are intended both to inform studies of autism, and to illustrate and explore the increasing potential of bioinformatic approaches as a compliment to linkage analysis.

Autistic Disorder↗
PubMed2006

The 'amygdala theory of autism' revisited: linking structure to behavior.

The 'amygdala theory of autism' suggests a crucial role for the amygdala in the neurobiological basis of autism spectrum disorders. However, to date evidence is lacking of a direct relationship between amygdala measures and behavioral manifestations of autism in affected individuals. In 17 adult individuals with Asperger syndrome (AS) and 17 well-matched controls we therefore assessed associations between MRI-derived amygdala volume and behavioral variables of emotion recognition and social cognition, as well as with core AS symptomatology. Results revealed that individuals with AS exhibited impairments in emotion recognition and social cognition compared to controls and also showed atypical relationships between amygdala volumes and overall head size. We found positive associations between emotional and social understanding and amygdala volume in the control group, but not in the AS group. In the AS group however, amygdala size was negatively related to diagnostic parameters, with smaller amygdala volumes involving higher levels of restricted-repetitive behavior domains. Our data seem to indicate that in AS the amygdala is not crucially involved in social and emotional understanding. It may, however, be a mediator for narrow interest patterns and the imposition of routines and rituals. Our data, in conjunction with current literature, seem to argue for a modification of the 'amygdala theory of autism'.

Adult↗
PubMed2007

Effect of language and task demands on the diagnostic effectiveness of the autism diagnostic observation schedule: the impact of module choice.

The ADOS characterizes socio-communicative deficits in autism spectrum disorders (ASD). In this study the effect of module choice on ADOS classification was examined. For 74 participants (52 autism, 22 PDD-NOS), Module 1 and Module 2 were administered in a single session. Fifty-one participants maintained ADOS classification, with 17 more impaired on M2 and 6 more impaired on M1. For 64 participants (25 autism, 39 PDD-NOS), Module 2 and Module 3 were administered. Thirty-nine participants maintained classification, with 24 more impaired on M3 and 1 more impaired on M2. As expected, more impairment was indicated when a module with more language and task demands was administered. Clinical judgment of the most appropriate module for administration was found to be important.

Autistic Disorder↗
PubMed2003

Prevalence of chronic gastrointestinal symptoms in children with autism and autistic spectrum disorders.

The purpose of this study was to estimate the prevalence of chronic gastrointestinal symptoms in a general population of children with autism or autistic spectrum disorder (ASD). The study site was a clinic specializing in ASD in a large pediatric medical center serving a 10 county area in the midwestern USA. In a sample of 137 children, age 24-96 months, classified as having autism or ASD by the Autism Diagnostic Observation Schedule-Generic, 24 percent had a history of at least one chronic gastrointestinal symptom. The most common symptom was diarrhea, which occurred in 17 percent. There was no association between chronic gastrointestinal symptoms and a history of developmental regression. The potential phenotypic association between autism and gastrointestinal symptoms is discussed.

Abdominal Pain↗
PubMed2000

Is autism a G-alpha protein defect reversible with natural vitamin A?

Autism may be a disorder linked to the disruption of the G-alpha protein, affecting retinoid receptors in the brain. A study of 60 autistic children suggests that autism may be caused by inserting a G-alpha protein defect, the pertussis toxin found in the DPT vaccine, into genetically at-risk children. This toxin separates the G-alpha protein from retinoid receptors. Those most at risk report a family history of at least one parent with a pre-existing G-alpha protein defect, including night blindness, pseudohypoparathyroidism or adenoma of the thyroid or pituitary gland. Natural vitamin A may reconnect the retinoid receptors critical for vision, sensory perception, language processing and attention. Autism spectrum disorders have increased from 1 in 10 000 in 1978 to 1 in 300 in some US communities in 1999. Recent evidence indicates that autism is a disorder of the nervous system and the immune system, affecting multiple metabolic pathways.

Autistic Disorder↗
PubMedDate not supplied

Current practice of occupational therapy for children with autism.

OBJECTIVE: The purpose of this study was to examine the current practice patterns of occupational therapists experienced in working with children with autism spectrum disorders. METHOD: Occupational therapists experienced in providing services to 2-year-old to 12-year-old children with autism completed a mail questionnaire describing practice patterns, theoretical approaches, intervention techniques, and preferred methods of preparation for work with children with autism. RESULTS: Of those contacted, 72 occupational therapists met the study criteria and returned completed questionnaires. Practice patterns included frequent collaboration with other professionals during assessment and intervention. Intervention services were typically provided in a one-to-one format with the most common techniques being sensory integration (99%) and positive reinforcement (93%). Theoretical approaches included sensory integration (99%), developmental (88%), and behavioral (73%). Evaluations relied heavily on nonstandardized tools and clinical observations. Educational methods identified as most helpful were weekend workshops (56%) and on-the-job training (52%). CONCLUSION: This study clarified the nature of current occupational therapy practice patterns for 2-year-old to 12-year-old children with autism. Additional studies are needed to examine the efficacy of current evaluation and intervention methods, as well as to explore the relevance of available standardized assessments for this population.

Attention↗
PubMed2005

Behavioral assessment of joint attention: a methodological report.

This paper describes a highly structured assessment protocol with objective behavioral measures for joint attention responding and initiation. The assessment was given to 26 children diagnosed with autism spectrum disorders and 21 typically developing children, aged two to four years. Interobserver agreement was high for all behavioral measures. Children with autism had relatively minor deficits in joint attention responding and more severe deficits in joint attention initiation, relative to typically developing children. These results replicate those reported in previous research. The protocol can be used reliably to assess behavior indicative of joint attention responding and initiation in typically developing children and children with autism.

Attention↗
PubMed2026

A massively parallel CRISPR-based screening platform for modifiers of neuronal depolarization.

Understanding the complex interplay between gene expression and neuronal activity is crucial for unraveling the molecular mechanisms underlying cognitive function and neurological disorders. Here, we developed pooled screens using CRISPR interference (CRISPRi) and the fluorescent calcium integrator CaMPARI2 to evaluate genetic modifiers of neuronal depolarization. Using this screening method, we evaluated 1343 genes for their effect on depolarization in a human iPSC-derived neuron model, revealing potential links to neurodegenerative and neurodevelopmental disorders. These genes include known regulators of neuronal excitability, such as TARPs and ion channels, as well as genes associated with autism spectrum disorder and Alzheimer's disease not previously described to affect neuronal depolarization. This CRISPRi-based screening platform offers a versatile tool to uncover molecular mechanisms controlling neuronal function in health and disease.

Humans↗
PubMed2025

A Massively Parallel CRISPR-Based Screening Platform for Modifiers of Neuronal Activity.

Understanding the complex interplay between gene expression and neuronal activity is crucial for unraveling the molecular mechanisms underlying cognitive function and neurological disorders. Here, we developed pooled screens for neuronal activity, using CRISPR interference (CRISPRi) and the fluorescent calcium integrator CaMPARI2. Using this screening method, we evaluated 1343 genes for their effect on excitability in human iPSC-derived neurons, revealing potential links to neurodegenerative and neurodevelopmental disorders. These genes include known regulators of neuronal excitability, such as TARPs and ion channels, as well as genes associated with autism spectrum disorder and Alzheimer's disease not previously described to affect neuronal excitability. This CRISPRi-based screening platform offers a versatile tool to uncover molecular mechanisms controlling neuronal activity in health and disease.

Journal Article↗
PubMedDate not supplied

Behavior change in a student with a dual diagnosis of deafness and pervasive developmental disorder: a case study.

The broad term pervasive developmental disorder (PPD) describes a set of symptoms that occur along a continuum of severity; these symptoms are often referred to as autism spectrum disorders (ASDs). Little is known about the incidence and prevalence of ASDs among students who are deaf or hard of hearing (DHH). Teachers of DHH students, who must work with individuals with dual diagnoses, are at a loss for guidance from the literature. The authors review the literature on ASDs (also referred to as PDD) within the DHH population, provide results of a single-subject study to reduce PDD-type behaviors in a child with hearing loss, and argue that teachers of students who are DHH must learn about practices associated with applied behavior analysis as an tool for intervening therapeutically with children with dual diagnoses of hearing loss plus an ASD.

Behavior Therapy↗
PubMed2003

Co-occurrence of autism and deafness: diagnostic considerations.

Autism spectrum disorders are particularly difficult to diagnose in the presence of early profound deafness because of communication related issues. Two parts of the Autism Screening Instrument were administered to 13 deaf individuals with autism and two comparison groups: hearing autistic and deaf learning disabled. A parental questionnaire was also used. No differences in autistic symptomatology were found between the deaf autistic and the hearing autistic group. However, the deaf autistic group was diagnosed later than the hearing autistic group. It is concluded that autism can be diagnosed in the deaf; that it resembles autism in the hearing; and that it is not a consequence of deafness per se. Learning disabled deaf individuals who are not autistic do not resemble people with autism in behavioural terms. The findings have implications for remediation, education, and the emergence and management of challenging behaviours.

Adolescent↗
PubMed2000

A screening instrument for autism at 18 months of age: a 6-year follow-up study.

OBJECTIVES: A population of 16,235 children aged 18 months was screened using the Checklist for Autism in Toddlers (CHAT) to identify childhood autism (CA). Two further screening procedures were conducted at age 3 and 5 years. The population was followed up at age 7 years in order to establish the sensitivity, specificity, and positive predictive value of the instrument. METHOD: A brief checklist assessing joint attention and pretend play behaviors was administered by primary health care practitioners when the children were 18 months old. Follow-up methods included screening through parents and health practitioners and checking medical and educational records. RESULTS: Nineteen cases of CA were successfully identified by the CHAT at 18 months. At follow-up a total of 50 cases of CA were identified via all surveillance methods. Thus, the CHAT has a sensitivity of 38% and a specificity of 98% for identifying CA. The positive predictive value of the instrument was maximized by concentration on the highest-risk group. Repeated screening 1 month later increased the positive predictive value to 75% for identification of CA but reduced the sensitivity to 20%, although the specificity was close to 100%. The screen also identified cases of pervasive developmental disorder as well as children with language and other developmental disorders. CONCLUSIONS: The CHAT can be used to identify cases of autism and related pervasive developmental disorders at 18 months of age. It is emphasized that the CHAT is not a diagnostic instrument but can identify potential cases of autism spectrum disorders for a full diagnostic assessment.

Autistic Disorder↗