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Studies in History and Philosophy of... Oct 2021How we ought to diagnose, categorise and respond to spectrum disabilities such as autism and Attention Deficit/Hyperactivity Disorder (ADHD) is a topic of lively debate....
How we ought to diagnose, categorise and respond to spectrum disabilities such as autism and Attention Deficit/Hyperactivity Disorder (ADHD) is a topic of lively debate. The heterogeneity associated with ADHD and autism is described as falling on various continua of behavioural, neural, and genetic difference. These continua are varyingly described either as extending into the general population, or as being continua within a given disorder demarcation. Moreover, the interrelationships of these continua are likewise often vague and subject to diverse interpretations. In this paper, I explore geneticists' and self-advocates' perspectives concerning autism and ADHD as continua. These diagnoses are overwhelmingly analysed as falling on a continuum or continua of underlying traits, which supports the notion of "the neurodiversity spectrum", i.e., a broader swath of human neural and behavioural diversity on which some concentrations of different functioning are diagnosed. I offer a taxonomy of conceptions of the genetic, phenotypic, and endophenotypic dimensionality within and beyond these diagnostic categories, and suggest that the spectrum of neurodiversity is characteristically endophenotypic.
Topics: Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Autistic Disorder; Endophenotypes; Humans
PubMed: 34365317
DOI: 10.1016/j.shpsa.2021.07.006 -
Journal of Autism and Developmental... Jan 2021Over the past decade, there has been a growing interest in adults on the autistic spectrum, and more recently, the challenges related to aging in this population. A... (Review)
Review
Over the past decade, there has been a growing interest in adults on the autistic spectrum, and more recently, the challenges related to aging in this population. A two-day Think Tank meeting, focused on aging in autism, was convened amongst international leaders in the field of autism research and practice. This meeting included a series of presentations addressing the current status of aging research, followed by discussions regarding priorities going forward. Attendees shared their thoughts and concerns regarding community services, government policies, societal perspectives and physical and mental health. The goal of these discussions was to consider systematic approaches aimed at providing meaningful supports that can ensure a quality of life for seniors on the autism spectrum.
Topics: Adult; Aging; Autistic Disorder; Biomedical Research; Child; Congresses as Topic; Health Policy; Humans; Mental Health; Quality of Life
PubMed: 32361792
DOI: 10.1007/s10803-020-04514-3 -
Journal of Korean Medical Science Jul 2013
Topics: Attention Deficit Disorder with Hyperactivity; Autistic Disorder; Behavior; Humans; Prevalence
PubMed: 23853476
DOI: 10.3346/jkms.2013.28.7.974 -
Journal of Autism and Developmental... Jun 2023Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism (n = 111), ADHD...
Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism (n = 111), ADHD (n = 93), or both conditions (n = 84), examined the relations between age of diagnosis and early atypical development, the age specialist consultation was needed and types of specialists seen. Co-occurring autism and ADHD was associated with an earlier ADHD diagnosis and a later autism diagnosis. Parents of children with both diagnoses reported less atypical development in language and social behaviours compared to parents of children of autism, and this co-occurring group also experienced longer wait times to diagnosis, and saw more types of specialists prior to a diagnosis, than those with autism.
Topics: Humans; Child; Autistic Disorder; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Social Behavior; Parents
PubMed: 35254600
DOI: 10.1007/s10803-022-05488-0 -
Developmental Medicine and Child... Feb 2010Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism... (Review)
Review
AIMS
Over the past decade, genetic tests have become available for numerous heritable disorders, especially those whose inheritance follows the Mendelian model. Autism spectrum disorders (ASDs) represent a group of developmental disorders with a strong genetic basis. During the past few years, genetic research in ASDs has been successful in identifying several vulnerability loci and a few cytogenetic abnormalities or single-base mutations implicated in the causation of autism.
METHOD
In this study the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes.
RESULTS
Based on this knowledge, practical information is offered to help clinicians pursue targeted genetic testing of individuals with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
INTERPRETATION
Comprehensive research into the molecular mechanism of autism is required to aid the development of disease-specific targeted therapies. In order to transfer this recently acquired knowledge into clinical practice, it is critical to define a set of phenotypic inclusion criteria that must be met by affected probands to justify their enrolment in a specific genetic testing programme.
Topics: Autistic Disorder; Genetic Association Studies; Genetic Diseases, X-Linked; Genetic Predisposition to Disease; Humans; Membrane Proteins; Mutation; Nerve Tissue Proteins
PubMed: 20059518
DOI: 10.1111/j.1469-8749.2009.03523.x -
Neurotherapeutics : the Journal of the... Jul 2010Ever since its original description by Leo Kanner in l943, autism has been generally defined by its clinical characteristics and core symptoms that include impaired... (Review)
Review
Ever since its original description by Leo Kanner in l943, autism has been generally defined by its clinical characteristics and core symptoms that include impaired social skills, isolated areas of interest, and delayed and disordered language. Over time, it has become apparent that autism is a heterogeneous disorder with regard to its clinical presentation, etiology, underlying neurobiology, and degree of severity. As a result, the termed diagnosis of autism spectrum disorders (ASDs) has come into common usage. With advancements in clinical care, there has come the appreciation that many ASD children, adolescents, and adults may have medically relevant disorders that may negatively impact their developmental progress and behavior, but which frequently go undetected. Many of these medical conditions are treatable, often resulting in improved developmental gains and quality of life for the patient and family. In addition, the possibility exists that some of these medical conditions may suggest the presence of important genetic and/or biologic markers, which, if identified, can refine our ability to be more precise in categorizing clinical and genetic subtypes within the autism spectrum.
Topics: Autistic Disorder; Comorbidity; Endocrine System Diseases; Epilepsy; Gastrointestinal Diseases; Humans; Metabolic Diseases; Sleep Wake Disorders
PubMed: 20643385
DOI: 10.1016/j.nurt.2010.06.001 -
NeuroRx : the Journal of the American... Apr 2006A comprehensive approach to the assessment of any child with autism must be matched specifically to each individual child and family. This premise holds for medical... (Review)
Review
A comprehensive approach to the assessment of any child with autism must be matched specifically to each individual child and family. This premise holds for medical therapies and special education services as well as psychopharmacologic interventions. Behavioral, as opposed to pharmacologic, treatment is the hallmark of effective intervention for autism. Physicians involved in the care of children with autism need to become familiar with educational law and intervention recommendations. Goals should include improved functional verbal and nonverbal communication and social skills, increased engagement in developmentally appropriate activities, improved fine and gross motor skills, and the development of independent academic and organizations skills, as well as replacement of problem behaviors with developmentally appropriate behaviors.. Medicating children with autism is difficult, but is often necessary for chronic behavioral difficulties. In the absence of clear and present guidelines, we have attempted to use evidence and clinical experience to suggest an algorithm based on symptom clusters. Although children with autism may be responsive to medications at lower doses and more susceptible to side effects than other children, medical intervention can produce a significant improvement in the quality of life for the child and family. Careful thought leading to correct identification of target behaviors can appropriately direct better alternatives for medication. Although these approaches are costly and time-consuming endeavors, the expenditure of such efforts is the only available pathway to improve the potential outcomes for individuals with autism as well as decrease the lifetime societal costs for each individual.
Topics: Autistic Disorder; Behavior Therapy; Humans; Psychopharmacology
PubMed: 16554258
DOI: 10.1016/j.nurx.2006.01.014 -
Nutritional Neuroscience May 2015Autism is an increasing neurodevelopmental disease that appears by 3 years of age, has genetic and/or environmental etiology, and often shows comorbid situations, such... (Review)
Review
BACKGROUND
Autism is an increasing neurodevelopmental disease that appears by 3 years of age, has genetic and/or environmental etiology, and often shows comorbid situations, such as gastrointestinal (GI) disorders. Autism has also a striking sex-bias, not fully genetically explainable.
OBJECTIVE
Our goal was to explain how and in which predisposing conditions some compounds can impair neurodevelopment, why this occurs in the first years of age, and, primarily, why more in males than females.
METHODS
We reviewed articles regarding the genetic and environmental etiology of autism and toxins effects on animal models selected from PubMed and databases about autism and toxicology.
DISCUSSION
Our hypothesis proposes that in the first year of life, the decreasing of maternal immune protection and child immune-system immaturity create an immune vulnerability to infection diseases that, especially if treated with antibiotics, could facilitate dysbiosis and GI disorders. This condition triggers a vicious circle between immune system impairment and increasing dysbiosis that leads to leaky gut and neurochemical compounds and/or neurotoxic xenobiotics production and absorption. This alteration affects the 'gut-brain axis' communication that connects gut with central nervous system via immune system. Thus, metabolic pathways impaired in autistic children can be affected by genetic alterations or by environment-xenobiotics interference. In addition, in animal models many xenobiotics exert their neurotoxicity in a sex-dependent manner.
CONCLUSIONS
We integrate fragmented and multi-disciplinary information in a unique hypothesis and first disclose a possible environmental origin for the imbalance of male:female distribution of autism, reinforcing the idea that exogenous factors are related to the recent rise of this disease.
Topics: Animals; Autistic Disorder; Brain; Child; Child, Preschool; Dysbiosis; Environment; Female; Humans; Infant; Intestines; Male; Risk Factors; Sex Factors; Xenobiotics
PubMed: 24621061
DOI: 10.1179/1476830513Y.0000000108 -
Trends in Cognitive Sciences Feb 2009We present an overview of current literature addressing cognitive flexibility in autism spectrum disorders. Based on recent studies at multiple sites, using diverse... (Review)
Review
We present an overview of current literature addressing cognitive flexibility in autism spectrum disorders. Based on recent studies at multiple sites, using diverse methods and participants of different autism subtypes, ages and cognitive levels, no consistent evidence for cognitive flexibility deficits was found. Researchers and clinicians assume that inflexible everyday behaviors in autism are directly related to cognitive flexibility deficits as assessed by clinical and experimental measures. However, there is a large gap between the day-to-day behavioral flexibility and that measured with these cognitive flexibility tasks. To advance the field, experimental measures must evolve to reflect mechanistic models of flexibility deficits. Moreover, ecologically valid measures are required to be able to resolve the paradox between cognitive and behavioral inflexibility.
Topics: Autistic Disorder; Cognition; Humans; Neuropsychological Tests; Pliability; Psychiatric Status Rating Scales; Psychomotor Performance
PubMed: 19138551
DOI: 10.1016/j.tics.2008.11.006 -
Molecular Autism Feb 2020There is growing recognition that some autistic people engage in 'compensation', showing few behavioural symptoms (e.g. neurotypical social skills), despite continuing...
BACKGROUND
There is growing recognition that some autistic people engage in 'compensation', showing few behavioural symptoms (e.g. neurotypical social skills), despite continuing to experience autism-related cognitive difficulties (e.g. difficulties in social cognition). One way this might be achieved is by individuals consciously employing 'compensatory strategies' during everyday social interaction. However, very little is currently known about the broad range of these strategies, their mechanisms and consequences for clinical presentation and diagnosis.
METHODS
We aimed to measure compensatory strategies in autism for the first time. Using a novel checklist, we quantified self-reported social compensatory strategies in 117 adults (58 with autism, 59 without autism) and explored the relationships between compensation scores and autism diagnostic status, autistic traits, education level, sex and age at diagnosis.
RESULTS
Higher compensation scores-representing a greater repertoire of compensatory strategies-were associated with having an autism diagnosis, more autistic traits and a higher education level. The link between autism diagnostic status and compensation scores was, however, explained by autistic traits and education level. Compensation scores were unrelated to sex or age at diagnosis.
LIMITATIONS
Our sample was self-selected and predominantly comprised of intellectually able females; therefore, our findings may not generalise to the wider autistic population.
CONCLUSIONS
Together, our findings suggest that many intellectually able adults, with and without a clinical diagnosis of autism, report using compensatory strategies to modify their social behaviour. We discuss the clinical utility of measuring self-reported compensation (e.g., using our checklist), with important implications for the accurate diagnosis and management of autism and related conditions.
Topics: Adaptation, Psychological; Adolescent; Adult; Aged; Autistic Disorder; Female; Humans; Male; Middle Aged; Young Adult
PubMed: 32051011
DOI: 10.1186/s13229-019-0308-y