-
Revista de NeurologiaTo review the origin, development and present state of autism, pervasive developmental disorders, progress in diagnostic tools, genetic advances, neurobiological bases,... (Review)
Review
OBJECTIVE
To review the origin, development and present state of autism, pervasive developmental disorders, progress in diagnostic tools, genetic advances, neurobiological bases, the possible causes of the increased prevalence of autism and the present treatment of the autistic condition.
DEVELOPMENT
Autism is a neurobiological, life-long disorder characterized by abnormal social skills, deficient verbal and not verbal communication, symbolic and imaginative play, reasoning and related complex behaviour. Autism is 4 times more frequent in males. 70% are mentally retarded (30% mild and the rest moderate and severely retarded). Approximately 25% have convulsions and around 65% inspecific EGG abnormalities. Other conditions like ADHD, anxiety, depression may be associated. RMN: increased subarachnoidal spaces, moderate ventricular enlargement, 20% have megaloencephaly. PET and 31 PMMR show increased glucose metabolism and decreased functional links with association cortex. Mental level and language are the best prognostic indices for outcome. Pathology: reduced size of nerve cells in hippocampus, subiculum, sections of the amygdala, mamillary bodies, medial septal nucleus, decreased size of cerebellar hemispheres, posterior vermis, VI VII neocerebellar lobules. Evolution: in a small group about 9-31% live independently, 11-50% attend college.
CONCLUSION
Autism is a disorder of multi-factorial origin with a genetic polygenic component and the influence of environmental elements. Treatment with risperidone improves symptoms.
Topics: Activities of Daily Living; Antipsychotic Agents; Autistic Disorder; Communication Disorders; Diagnosis, Differential; Humans; Molecular Biology; Risperidone
PubMed: 12938058
DOI: No ID Found -
Autism Research : Official Journal of... Nov 2022Adult autism studies are increasingly comprised of later-diagnosed adults, yet little is known about how these adults compare to those diagnosed earlier in life. The...
Adult autism studies are increasingly comprised of later-diagnosed adults, yet little is known about how these adults compare to those diagnosed earlier in life. The present study examines medical and psychiatric conditions endorsed by autistic adults and documents differences between those diagnosed with ASD in childhood versus adulthood, as well as across age groups and sex at birth. 4657 legally independent adults (ages 18-85, M = 33.4 years) with professional ASD diagnoses who completed a medical questionnaire were drawn from the Simons Powering Autism Research Knowledge (SPARK) study. Chi square analyses, t-tests, and logistic regressions were used to compare medical and psychiatric conditions between age groups, sex at birth and adults diagnosed in childhood (before age 21) versus adulthood (at or after 21 years). Overall number of conditions endorsed as being diagnosed by a professional was high, with an average of 1.69 (SD = 2.01) medical or developmental and 2.98 (SD = 2.29) psychiatric conditions reported across the sample. Females were more likely to endorse psychiatric conditions (OR = 1.68). Adult-diagnosed adults were more likely to endorse psychiatric conditions (OR = 2.71) and reported more lifetime psychiatric diagnoses (M = 3.15, SD = 2.23) than their childhood-diagnosed counterparts (M = 2.81, SD = 2.33). These findings underscore the need for research to better understand and treat co-occurring psychiatric conditions in autistic adults and report and consider the age of diagnosis in adult autism samples. Moreover, results suggest it is imperative that mental health professionals receive autism training to promote accurate differential diagnosis and equitable access to mental health care for autistic adults with co-occurring psychiatric conditions.
Topics: Adult; Female; Infant, Newborn; Humans; Adolescent; Young Adult; Middle Aged; Aged; Aged, 80 and over; Autistic Disorder; Autism Spectrum Disorder; Mental Health; Surveys and Questionnaires
PubMed: 36054777
DOI: 10.1002/aur.2808 -
California Medicine Apr 1973This review of the literature on childhood autism discusses the clinical characteristics, differential diagnosis, prognosis and treatment of the autistic behavioral... (Review)
Review
This review of the literature on childhood autism discusses the clinical characteristics, differential diagnosis, prognosis and treatment of the autistic behavioral syndrome from a developmental perspective. It includes a discussion of the influence of prenatal and perinatal antecedents, genetic and socio-familial factors, and epidemiologic considerations. Neurologic, electro-encephalographic and experimental neurophysiologic, metabolic, biochemical and hematologic investigations are reviewed. Special emphasis has been given to the changing clinical manifestations which accompany maturation and to the problems of recognition of childhood autism in the very young child.
Topics: Aphasia; Autistic Disorder; Child Behavior Disorders; Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Electroencephalography; Family Characteristics; Hematologic Diseases; Humans; Infant; Maternal Deprivation; Parent-Child Relations; Prognosis; Psychotherapy; Socioeconomic Factors; Speech Therapy
PubMed: 4120820
DOI: No ID Found -
British Journal of Hospital Medicine... Dec 2021The accompanying article set out why it is important to identify autistic people and the negative consequences of not recognising or understanding autism, including more...
The accompanying article set out why it is important to identify autistic people and the negative consequences of not recognising or understanding autism, including more severe illness and premature death. This article sets out what clinicians can do to help reduce those negative consequences by making 'reasonable adjustments' in any healthcare service in which they work.
Topics: Autistic Disorder; Delivery of Health Care; Humans
PubMed: 34983215
DOI: 10.12968/hmed.2021.0314 -
Sheng Li Xue Bao : [Acta Physiologica... Apr 2018The autism spectrum is a pervasive developmental disorder characterized by profound social and verbal communication deficits, stereotypical motor behaviors, restricted... (Review)
Review
The autism spectrum is a pervasive developmental disorder characterized by profound social and verbal communication deficits, stereotypical motor behaviors, restricted interests, and cognitive abnormalities. It affects approximately 1% of children in most of the reported nations and regions. One of the most fascinating and mysterious features of autism, however, is the remarkable talent frequently found in people affected by it, namely autistic savant. A parallel and equally mysterious phenomenon is that some otherwise normal and ordinary individuals develop similarly remarkable talent after brain injuries, a disorder known as acquired savant. After decades of intensive investigation, significant progress has been made in these fields. Current studies indicate that autistic savant and acquired savant are neuropathologically related, and these disorders share many neurobiological mechanisms. This review summarizes current knowledge of autism and both two savant types, and how it may aid our understanding of higher brain functionalities.
Topics: Aptitude; Autistic Disorder; Child; Humans
PubMed: 29691585
DOI: No ID Found -
Pediatric Research Jun 2009Autism is a neurodevelopmental disorder of unknown etiology characterized by social and communication deficits and the presence of restricted interests/repetitive... (Review)
Review
Autism is a neurodevelopmental disorder of unknown etiology characterized by social and communication deficits and the presence of restricted interests/repetitive behaviors. Higher rates of epilepsy have long been reported, but prevalence estimates vary from as little as 5% to as much as 46%. This variation is probably the result of sample characteristics that increase epilepsy risk such as sample ascertainment, lower intelligence quotient (IQ), the inclusion of patients with nonidiopathic autism, age, and gender. However, critical review of the literature reveals that the rate in idiopathic cases with normal IQ is still significantly above the population risk suggesting that autism itself is associated with an increased risk of epilepsy. Recently, there has been interest in the occurrence of epileptiform electroencephalograms (EEGs) even in the absence of epilepsy. Rates as high as 60% have been reported and some investigators propose that these abnormalities may play a causal role in the autism phenotype. Although this phenomenon is still not well understood and risk factors have yet to be determined, the treatment implications are increasingly important. We review the recent literature to elucidate possible risk factors for both epilepsy and epileptiform EEGs. We then review existing data and discuss controversies surrounding treatment of EEG abnormalities.
Topics: Age of Onset; Autistic Disorder; Comorbidity; Electroencephalography; Epilepsy; Humans; Risk Factors
PubMed: 19454962
DOI: 10.1203/PDR.0b013e31819e7168 -
Journal of Autism and Developmental... Aug 2022Autism evidence-based practices (EBPs) are those with demonstrated improved outcomes for students with autism across a range of skill areas, yet issues persist in...
Autism evidence-based practices (EBPs) are those with demonstrated improved outcomes for students with autism across a range of skill areas, yet issues persist in adopting these in classroom settings- particularly in general education (GE) settings. This research aimed to identify teacher training, years of experience, access to allied professionals and knowledge and use of autism EBPs in GE settings in Ireland. 369 mainstream primary school teachers reported their characteristics and their knowledge and use of EBPs. Results indicated that the majority of teachers received little initial teacher education training in autism, almost no continuous professional development (CPD) before educating a child with autism, and received little support from allied professionals. Knowledge and use of EBPs differed significantly across teacher characteristics, with findings discussed in relation to teacher training.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Evidence-Based Practice; Humans; Ireland; School Teachers; Teacher Training
PubMed: 34405309
DOI: 10.1007/s10803-021-05223-1 -
JAMA Pediatrics Sep 2022Presence of developmental delays in autism is well established, yet few studies have characterized variability in developmental milestone attainment in this population.
Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis.
IMPORTANCE
Presence of developmental delays in autism is well established, yet few studies have characterized variability in developmental milestone attainment in this population.
OBJECTIVE
To characterize variability in the age at which autistic individuals attain key developmental milestones based on co-occurring intellectual disability (ID), presence of a rare disruptive genetic variant associated with neurodevelopmental disorders (NDD), age at autism diagnosis, and research cohort membership.
DESIGN
The study team harmonized data from 4 cross-sectional autism cohorts: the Autism Genetics Research Exchange (n = 3284; 1997-2015), The Autism Simplex Collection (n = 694; 2008-2011), the Simons Simplex Collection (n = 2753; 2008-2011), and the Simons Foundation Powering Autism Research for Knowledge (n = 10 367; 2016-present). The last sample further included 4145 siblings without an autism diagnosis or ID.
PARTICIPANTS
Convenience sample of 21 243 autistic individuals or their siblings without an autism diagnosis aged 4 to 17 years.
MAIN OUTCOMES AND MEASURES
Parents reported ages at which participants attained key milestones including smiling, sitting upright, crawling, walking, spoon-feeding self, speaking words, speaking phrases, and acquiring bladder and bowel control. A total of 5295 autistic individuals, and their biological parents, were genetically characterized to identify de novo variants in NDD-associated genes. The study team conducted time-to-event analyses to estimate and compare percentiles in time with milestone attainment across autistic individuals, subgroups of autistic individuals, and the sibling sample.
RESULTS
Seventeen thousand ninety-eight autistic individuals (mean age, 9.15 years; 80.8% male) compared with 4145 siblings without autism or ID (mean age, 10.2 years; 50.2% female) showed delays in milestone attainment, with median (IQR) delays ranging from 0.7 (0.3-1.6) to 19.7 (11.4-32.2) months. More severe and more variable delays in autism were associated with the presence of co-occurring ID, carrying an NDD-associated rare genetic variant, and being diagnosed with autism by age 5 years. More severe and more variable delays were also associated with membership in earlier study cohorts, consistent with autism's diagnostic and ascertainment expansion over the last 30 years.
CONCLUSIONS AND RELEVANCE
As the largest summary to date of developmental milestone attainment in autism, to our knowledge, this study demonstrates substantial developmental variability across different conditions and provides important context for understanding the phenotypic and etiological heterogeneity of autism.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Cohort Studies; Cross-Sectional Studies; Female; Humans; Intellectual Disability; Male; Siblings
PubMed: 35849387
DOI: 10.1001/jamapediatrics.2022.2423 -
Philosophical Transactions of the Royal... May 2009In this paper, we explore the question, why are striking special skills so much more common in autism spectrum conditions (ASC) than in other groups? Current cognitive... (Review)
Review
In this paper, we explore the question, why are striking special skills so much more common in autism spectrum conditions (ASC) than in other groups? Current cognitive accounts of ASC are briefly reviewed in relation to special skills. Difficulties in 'theory of mind' may contribute to originality in ASC, since individuals who do not automatically 'read other minds' may be better able to think outside prevailing fashions and popular theories. However, originality alone does not confer talent. Executive dysfunction has been suggested as the 'releasing' mechanism for special skills in ASC, but other groups with executive difficulties do not show raised incidence of talents. Detail-focused processing bias ('weak coherence', 'enhanced perceptual functioning') appears to be the most promising predisposing characteristic, or 'starting engine', for talent development. In support of this notion, we summarize data from a population-based twin study in which parents reported on their 8-year-olds' talents and their ASC-like traits. Across the whole sample, ASC-like traits, and specifically 'restricted and repetitive behaviours and interests' related to detail focus, were more pronounced in children reported to have talents outstripping older children. We suggest that detail-focused cognitive style predisposes to talent in savant domains in, and beyond, autism spectrum disorders.
Topics: Aptitude; Autistic Disorder; Cognition; Humans; Models, Psychological
PubMed: 19528019
DOI: 10.1098/rstb.2008.0332 -
Seizure Jan 2023The recent NICE epilepsy Guideline (NG217; 2022) recommends that epilepsy professionals need to be alert to autism when considering mental health presentations,... (Review)
Review
The recent NICE epilepsy Guideline (NG217; 2022) recommends that epilepsy professionals need to be alert to autism when considering mental health presentations, behavioural difficulties and as a marker for referral for whole genome sequencing for those patients with epilepsy of unknown cause. However, this relies upon the existence of valid autism screens for people with epilepsy (PWE). We found few studies of autism in cognitively able PWE. This represents an important gap in the literature. We describe different autism screening and diagnostic tools; two screening tools have been used specifically for adult PWE who are cognitively able (AQ, SRS-AS). The AQ is more psychometrically robust, but there may be an overlap between these screening questions and questions relevant to some psychiatric disorders. Formal gold-standard diagnostic tools (module 4 of ADOS-2, ADI-R or 3Di or 3Di-Adult) would benefit from studies of their application to cognitively able PWE. More research is needed to understand the characteristics of autism in cognitively able PWE and to ascertain the appropriate screening and diagnostic tools for this cohort.
Topics: Humans; Adult; Autistic Disorder; Epilepsy
PubMed: 36442428
DOI: 10.1016/j.seizure.2022.11.004