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PubMed1975

Infantile autism. I: A prospective study of the diagnosis.

A prospective study was made of 200 consecutive children to evaluate the usefulness in the diagnosis of infantile autism of the behavioral scale reported by Clancy and coworkers in 1969. On this scale seven or more of 14 behavioral manifestations must be present before a diagnosis of autism can be made. Using this scale alone, 48 of the 200 children studied were "scale positive", i.e. could be considered autistic. However, further study of this group showed that only one child fulfilled the classical criteria of Kanner (1943) for a diagnosis of early infantile autism. Scale "positivity" was found to correlate with mental retardation and to be associated with other developmental defects, especially learning disorders and hearing loss.

Adolescent↗

PubMed1975

[Phoinatric and audiological aspects of autism (author's transl)].

The diagnosis of autism or autistic traits always necessitates exclusion of a primary or secondary speech or hearing disorder. The following findings are based on experience gained from 12 children with the diagnosis of early infantile autism. If an acoustic or speaking disorder is caused by brain damage, it will increasingly dominate the total symptomatology as the child matures. The more intensively the organic factor influences the picture, the more frequently a primary acoustic or speech disorder is found. This was observed in 6 cases, which can be diagnosed an "pseudo autistic". From the phoniatric and audiological view the type of autism syndrome as described by Kanner has so far not been confirmed.

Audiovisual Aids↗

PubMed1977

[Catamnesis of patients with Kanner's early infantile autism syndrome].

By means of a follow-up study the author studied 28 patients who at the age of 3-6 years were diagnosed as suffering from early infantile autism. In 6 cases the mental state of patients was characterized by traits of dissociated oligophrenic-like defect with preserved autistic forms of contacts, residual disorders of the syndrome of Kanners early autism, simbiotical dependency from the parents. In 15 cases there was a personality distortion, with traits of autism, emotional poorness, motor insufficiency, indifferent negativistic forms of contacts, mental retardation of the pseudooligophrenic type. In 7 cases there was a formation of a psychopathic state of a schizoid type.

Adaptation, Psychological↗

PubMed2026

Transcranial Alternating Current Stimulation at 40 Hz Improves Social Functioning in Children With Autism Spectrum Disorder: A Randomized Clinical Trial.

BACKGROUND: Autism spectrum disorder (ASD) lacks rapid and effective interventions for its core social difficulties. The right temporoparietal junction (rTPJ), a critical hub for social cognition, together with gamma band abnormalities implicated in ASD, provides a promising neuromodulation target. METHODS: In this randomized, double-blind, sham-controlled trial, 47 children with ASD (39 male; mean [SD] age = 8.79 [2.71] years) were assigned to receive either 21 sessions of 40-Hz high-definition transcranial alternating current stimulation (tACS) targeting the rTPJ (3 sessions/day for 7 days) or sham stimulation, with assessments conducted at baseline, postintervention (week 1), and a 3-week follow-up (week 4). The primary outcome was change in Ohio State University Autism Rating Scale-DSM-5 (OARS-5) total scores. Secondary outcomes included the Aberrant Behavior Checklist-Second Edition, Social Responsiveness Scale-Second Edition, and Short Sensory Profile. Eye-tracking metrics during Frith-Happé animations were exploratory measures of theory of mind (ToM)-related social cognitive processing. RESULTS: The active group demonstrated significant improvements in OARS-5 total scores at week 1 (mean difference = -1.13, 95% CI [-1.78 to -0.47], p < .001) and week 4 (mean difference = -1.47, 95% CI [-2.20 to -0.74], p < .001). Improvements in selected behavioral and sensory domains were observed. Average fixation duration during ToM animations showed a significant group × time interaction. No serious adverse events occurred. CONCLUSIONS: These findings suggest that 40-Hz tACS targeting the rTPJ may be associated with rapid improvements in ASD symptom severity, particularly social functioning, in children with ASD, while being well tolerated. Clinical significance requires further evaluation.

Humans↗

PubMed2026

Individual differences in brain dynamics across a social cognition network induced by cortico-cerebellar tDCS in adults with autism spectrum disorder (ASD).

Autism spectrum disorder (ASD) is a neurodevelopmental condition with core diagnostic domains of social communication impairments, restricted interests and repetitive behaviors. Idiosyncratic brain organization is a potential hallmark of ASD. Previous transcranial direct current stimulation (tDCS) studies often targeted dorsolateral prefrontal cortex, with changes oin brain dynamics averaged across the cohort. We utilized a magnetoencephalographic (MEG) array to characterize individual differences in brain dynamics induced by cortico-cerebellar tDCS across nodes of a social cognition network. A randomized, sham-controlled, double-blind, within-subject clinical trial was conducted in a cohort of 24 young adults with ASD or high autistic traits. Two separate sessions of computerized social learning activities were combined with verum/sham tDCS, with anodal electrode over right temporoparietal junction (TPJ) and cathode on right deltoid. Following stimulation, theta- and alpha-band activity were evaluated within nodes of a social cognition network: bilateral TPJ, fusiform, medial prefrontal cortex and Crus I/II of cerebellum. Idiosyncratic participant-specific up- and down-regulation of theta- and alpha-band activity occurred across the network. Activity in right Crus I/II, a region inundated by the stimulation current, strongly correlated with the change of activity summed across all cerebral cortical nodes in theta- but not alpha-band. Intrinsic theta-band activity is believed to mediate input/output relationships in cerebellar cortex and to drive synaptic plasticity. These results suggest that theta-band stimulation of cerebellar cortex might be an effective therapy for individuals on the autism spectrum who present with cerebellar hyperactivity.

Humans↗

PubMed2025

A General Principle of Neuronal Evolution Reveals a Human-Accelerated Neuron Type Potentially Underlying the High Prevalence of Autism in Humans.

The remarkable ability of a single genome sequence to encode a diverse collection of distinct cell types, including the thousands of cell types found in the mammalian brain, is a key characteristic of multicellular life. While it has been observed that some cell types are far more evolutionarily conserved than others, the factors driving these differences in the evolutionary rate remain unknown. Here, we hypothesized that highly abundant neuronal cell types may be under greater selective constraint than rarer neuronal types, leading to variation in their rates of evolution. To test this, we leveraged recently published cross-species single-nucleus RNA-sequencing datasets from three distinct regions of the mammalian neocortex. We found a strikingly consistent relationship where more abundant neuronal subtypes show greater gene expression conservation between species, which replicated across three independent datasets covering >106 neurons from six species. Based on this principle, we discovered that the most abundant type of neocortical neurons-layer 2/3 intratelencephalic excitatory neurons-has evolved exceptionally quickly in the human lineage compared to other apes. Surprisingly, this accelerated evolution was accompanied by the dramatic down-regulation of autism-associated genes, which was likely driven by polygenic positive selection specific to the human lineage. In summary, we introduce a general principle governing neuronal evolution and suggest that the exceptionally high prevalence of autism in humans may be a direct result of natural selection for lower expression of a suite of genes that conferred a fitness benefit to our ancestors while also rendering an abundant class of neurons more sensitive to perturbation.

Humans↗

PubMed2025

Prematurity and Genetic Liability for Autism Spectrum Disorder.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by diverse presentations and a strong genetic component. Environmental factors, such as prematurity, have also been linked to increased liability for ASD, though the interaction between genetic predisposition and prematurity remains unclear. This study aims to investigate the impact of genetic liability and preterm birth on ASD conditions. METHODS: We analyzed phenotype and genetic data from two large ASD cohorts, the Simons Foundation Powering Autism Research for Knowledge (SPARK) and Simons Simplex Collection (SSC), encompassing 78,559 individuals for phenotype analysis, 12,519 individuals with genome sequencing data, and 8,104 individuals with exome sequencing data. Statistical significance of differences in clinical measures was evaluated between individuals with different ASD and preterm status. We assessed the rare variants burden using generalized estimating equations (GEE) models and polygenic load using ASD-associated polygenic risk score (PRS). Furthermore, we developed a machine learning model to predict ASD in preterm children using phenotype and genetic features available at birth. RESULTS: Individuals with both preterm birth and ASD exhibit more severe phenotypic outcomes despite similar levels of genetic liability for ASD across the term and preterm groups. Notably, preterm ASD individuals showed an elevated rate of de novo variants identified in exome sequencing (GEE model, p=0.005) in comparison to the non-ASD preterm group. Additionally, a GEE model showed that a higher ASD PRS, preterm birth, and male sex were positively associated with a higher predicted probability for ASD, reaching a probability close to 90% in SPARK. Lastly, we developed a machine learning model using phenotype and genetic features available at birth with limited predictive power (AUROC = 0.65). CONCLUSIONS: Preterm birth may exacerbate the multimorbidity present in ASD, which was not due to the ASD genetic factors. However, increased genetic factors may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. We propose that incorporating genetic assessment into neonatal care could benefit early ASD identification and intervention for preterm infants.

Autism Spectrum Disorder↗

PubMed1978

A neurological model for childhood autism.

We analyze the behavioral and motor disturbances in childhood autism. On the basis of analogy to signs and conditions seen in adult neurology, we propose that the syndrome results from dysfunction in a system of bilateral neural structures that includes the ring of mesolimbic cortex located in the mesial frontal and temporal lobes, the neostriatum, and the anterior and medial nuclear groups of the thalamus. The mesolimbic cortex is cytoarchitectonically, angioarchitectonically, and neurochemically distinct and, along with the striatum, forms the entire target area of dopaminergic mesencephalic neurons. This raises the possibility that autism is related to neuromediator imbalance in those structures. Such dysfunction might be the result of macroscopic or microscopic changes in the target area or in structures functionally influencing them, consequent to a variety of causes such as perinatal viral infection, insult to the periventricular watershed area, or genetically determined neurochemical abnormalities.

Attention↗

PubMed1979

Lauretta Bender on autism: a review.

Lauretta Bender, internationally known as one of the pioneers in the field of child psychiatry, has written extensively on autism and other forms of childhood disturbance. This paper reviews and analyzes the development of her theories on autism, especially as it relates to childhood schizophrenia. Bender believes that the condition is one of the manifestations of schizophrenia occurring in earliest childhood. This review traces, through her writings and through personal contact, the development and elaboration of this view, and discusses influences on her work of Schilder, Gesell and others.

Autistic Disorder↗

PubMed1979

Early infantile autism in monozygotic twins.

A pair of male monozygotic twins concordant for autism is reported. During pregnancy the mother suffered from severe toxemia, and delivery occurred 2 months before term. Although there may have been a genetic influence, it appears that gestational damage was the main etiological factor for the autism in both children.

Autistic Disorder↗

PubMed1979

Overview of selected basic research in autism.

Basic research in autism is reviewed. There is mounting indication, but as yet inconclusive evidence, of unique physiologic disturbances etiologically related to autism. Additionally there is indication that some of the physiologic disturbances found in autistic children are also present in children with other developmental disorders. Children called autistic probably represent a complex of clinically similar manifestations in a variety of different subgroups of children, each subgroup representing a basically different physiologic disturbance. However, the possibility remains that there is only one basic disturbance that in varying degrees affects many body systems and thus manifests in a variety of overlapping syndromes. Objective markers are needed so as to allow the demarcation of subgroups of autistic children for further study. Possible markers may be decreased duration of postrotatory nystagmus, auditory evoked response deviations, lymphocytic hyporesponsivity, increased blood platelet serotonin efflux, and/or the presence of urinary DMT or bufotenin.

Autistic Disorder↗

PubMed1978

The cognitive--affective dilemma in early infantile autism: the case of Clarence.

This case study presents long-term follow-up data on Clarence, one of Kanner's original cases of infantile autism. Clarence's attempts to establish a heterosexual relationship and his plans for marriage are described. His success is attributed in part to therapeutic intervention, which was directed at promoting affective responsiveness in the patient. The case of Clarence is seen as lending support to the thesis of DesLauriers and Carlson (1969), who maintain that the core problem in infantile autism is a disturbance of affective contact.

Adult↗

PubMed1977

A comparative study of infantile autism and specific developmental receptive language disorders. III. Discriminant function analysis.

A psychometric, observational, and interview study was undertaken with 47 boys, aged 4 1/2 to 10 years, with nonverbal IQs of 70+ and a severe developmental disorder of language comprehension. Separate discriminant function analyses, based on behavioral, language, or cognitive features, showed little overlap between clinically defined autistic and dysphasic subgroups. Moreover, the discrimination could be made as clearly on language or cognitive characteristics as on social or behavioral critera. Language abnormalities and behavioral features also intercorrelated within the autistic subgroup. It is concluded that autism and dysphasia differ in important ways and that a cognitive deficit is an essential part of the syndrome of autism.

Autistic Disorder↗

PubMed1976

The aetiology of childhood autism: a criticism of the Tinbergen's ethological theory.

Kanner's descriptions of the children showing the abnormal behaviour pattern he observed and named "early infantile autism" are summarized. E.A. and N. Tinbergen's ethological theory of the aetiology of this syndrome is outlined and criticized. The major problem in evaluating this theory, apart from the absence of any evidence in its favour, is the lack of precision with which the Tinbergens use the terms "autism" and "Kanner's syndrome".

Arousal↗

PubMed1977

Autism: an approach to learning.

The literature on autism as a childhood disorder is briefly reviewed, concentrating on diagnosis and methods of treatment. The autistic child is treated as a complex organism with many unknown factors in his development. A dysfunction in sensory integration is thought to interfere with the development of physical, intellectual, and emotional behavior. Because the primary cause of autism remains undetermined, no simple or direct approach to the treatment of the autistic child is known. The approach used for training autistic children at a summer camp sponsored by the North Carolina Society for Autistic Children is described, including the operational structure, daily activities, and training techniques. Informal observations of the physical and psychomotor characteristics of the children are discussed, and a short case report is included.

Autistic Disorder↗

PubMed1977

Uptake of 5-hydroxytryptamine by isolated platelets in childhood schizophrenia and autism.

Previous work indicated a platelet abnormality in the in vitro accumulation of serotonin in childhood schizophrenia, especially infantile autism. The present report validates this further in cases of infantile autism and shows that the abnormality seems to be due to the platelets. The defect is apparently associated with the platelet and not the plasma.

Adolescent↗

PubMed1976

The syndrome of autism: a critical review.

The authors review the clinical features and behavioral characteristics of autism; differential diagnosis of the syndrome; clinical, neurophysiological, and biochemical research; and its medical management and treatment. They conclude that autism is a behaviorally defined, specific syndrome that is manifested at birth or shortly thereafter. Its symptoms are expressive of an underlying neuropathophysiological process that affects developmental rate; modulation of perception; language, cognitive, and intellectual development; and the ability to relate. The long-term prognosis is guarded; almost all patients manifest severe symptomatology throughout their lives. Further basic research into the neuropathophysiological process underlying the syndrome is necessary in order to reach the ultimate goal of developing etiologically specific treatment programs.

Age Factors↗

PubMed1977

Monozygotic twins concordant for infantile autism: follow-up.

This paper presents a well-documented case of monozygotic male twins concordant for infantile autism, with a twelve-year follow-up. Assessments include birth records, laboratory studies, physical measurements, psychometrics and quantifiable behavioural ratings by independent raters using multiple scales. Possible aetiological factors of infantile autism, as well as outcome are discussed.

Autistic Disorder↗