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PubMed2006

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.

The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with cytogenetic abnormalities to the autism phenotype. A literature survey of the Medline and Pubmed databases was performed, using multiple keyword searches. Additional searches through cited references and abstracts from the major genetic conferences from 2000 onwards completed the search. The quality of the phenotype (i.e. of the autism spectrum diagnosis) was rated for each included case. Available specific probe and marker information was used to define optimally the boundaries of the cytogenetic abnormalities. In case of recurrent deletions or duplications on chromosome 15 and 22, the positions of the low copy repeats that are thought to mediate these rearrangements were used to define the most likely boundaries of the implicated 'Cytogenetic Regions Of Interest' (CROIs). If no molecular data were available, the sequence position of the relevant chromosome bands was used to obtain the approximate molecular boundaries of the CROI. The findings of the current review indicate: (1) several regions of overlap between CROIs and known loci of significant linkage and/or association findings, and (2) additional regions of overlap among multiple CROIs at the same locus. Whereas the first finding confirms previous linkage/association findings, the latter may represent novel, not previously identified regions containing genes that contribute to autism. This analysis not only has confirmed the presence of several known autism risk regions but has also revealed additional previously unidentified loci, including 2q37, 5p15, 11q25, 16q22.3, 17p11.2, 18q21.1, 18q23, 22q11.2, 22q13.3 and Xp22.2-p22.3.

Autistic Disorder↗

PubMed2006

Autism-spectrum quotient Japanese version measures mental health problems other than autistic traits.

The purpose of the present paper was to examine the extent to which the Autism Spectrum Quotient Japanese version (AQ-J) measures mental health problems other than autistic traits, with the 12-item General Health Questionnaire Japanese version (GHQ-12) as a criterion. A questionnaire involving AQ-J and GHQ-12 was sent to 2000 adults aged 20-39 randomly selected from the general population, and intact data were obtained from 215 (mean age, 30.4 years; 86 male). The AQ-J score was significantly associated with the GHQ-12 score (r=0.518) and was significantly higher in 111 scoring >or=4 on the GHQ-12 (mean=24.8+/-6.5) than in 104 scoring <4 (mean=19.4+/-5.5). At a cut-off 22, the AQ-J had modest sensitivity (0.64) and specificity (0.66) for predicting mental health problems. The 21-item mental health AQ-J (AQJ-21MH; range, 0-21; cut-off, 9; sensitivity, 0.69; specificity, 0.76), items of which had a significant odds ratio (OR) for GHQ-12>or=4, and the AQ-J-4MH (range, 0-4; cut-off, 2; sensitivity, 0.68; specificity, 0.74) consisting of four items with a significant OR adjusted for collinearity selected from the 21 items by multiple logistic regression, were more efficient than the AQ-J. Because the AQ-J and its short forms measure mental health problems other than autistic traits, it is important to consider such problems in interpreting AQ-J scores to identify persons who may need professional help when screening normally intelligent adolescents and adults with pervasive developmental disorders.

Adult↗

PubMed2023

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to have Angelman syndrome; however, molecular testing was negative. Genome sequencing identified the H4 histone gene variant H4C5 NM_003545.4: c.295T>C, p.Tyr99His, which parental testing confirmed to be de novo. The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his phenotype closely matches the spectrum of those reported among the 29 affected individuals. As such, this report corroborates the delineation of neurodevelopmental syndrome caused by de novo missense H4 gene variants. Moreover, it suggests that cases of clinically suspected Angelman syndrome without molecular confirmation should undergo exome or genome sequencing, as novel neurodevelopmental syndromes with phenotypes overlapping with Angelman continue to be discovered.

Male↗

PubMed1999

45,X/46,XY mosaicism: report of 27 cases.

OBJECTIVES: There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases show a wide spectrum of phenotypes. This 10% risk of an abnormal outcome in prenatally diagnosed cases requires further attention. The purpose of the present study is to provide more information on the postnatally diagnosed 45,X/46,XY mosaicism cases. To date, only a few series have been reported. An accurate diagnosis in these patients is essential not only to their follow-up, but also to providing appropriate genetic counselling and subsequent prenatal diagnosis to their parents. METHODS: The clinical, cytogenetic, endocrinologic, histologic and molecular biological findings of 27 patients with 45, X/46,XY mosaicism are analyzed. RESULTS: The reported cases showed a wide spectrum of phenotypes as Turner syndrome, mixed gonadal dysgenesis (MGD), male pseudohermaphroditism (MPH) and apparently normal male. However, Ulrich-Turner stigmata were the most common features found in this series. Patients with MGD or MPH presented with various degrees of sex reversal such as hypospadias and/or abnormal internal genitalia. No correlation between the proportion of the 45,X/46,XY cell lines in the blood or the fibroblasts and the phenotype was found. Mild mental retardation was present in 4 of the patients and 2 patients showed signs of autism. CONCLUSIONS: Two major points are emphasized in this series: 1) the presence in 7 histologically analyzed streak gonads of a homogeneous 45,X chromosomal complement suggests that the invasion of the primitive genital ridge by a such a cell line may induce abnormal gonadal development; 2) 3 males, apparently normal at birth, developed late onset abnormalities such as dysgenetic testes leading to infertility, Ulrich-Turner stigmata, dysmorphic features, and mild mental retardation. These data indicate the importance of an accurate clinical and histologic evaluation of any patient presenting with 45, X/46,XY mosaicism.

Disorders of Sex Development↗

PubMed2004

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

OBJECTIVE: Cryptic subtelomeric chromosome rearrangements account for 6% to 10% of idiopathic mental retardation. As cytogenetic and molecular techniques have become more sophisticated, the number of genetic syndromes attributed to these microdeletions has increased. To date, 64 patients have been described in the literature with a more recently recognized microdeletion syndrome, del 22q13.3. The purpose of this study is to present 11 new cases of this recently described syndrome to delineate further the phenotype and to alert the clinician to another genetic condition that should be considered in the differential diagnosis of early hypotonia, delayed speech acquisition, and autistic behavior. METHODS: Eleven patients were evaluated in 3 academic institutions. Clinical features and results of cytogenetic testing were recorded and tabulated. Reasons for referral for genetic evaluation included developmental delay, severe expressive speech and language delay, and dysmorphic features. RESULTS: Age of presentation ranged from 5 months to 46 years. There were 10 female patients and 1 male patient. All of the patients exhibited delayed motor development, some degree of hypotonia, and severe expressive speech and language delay. Dysmorphic facial features included epicanthal folds, large cupped ears, underdeveloped philtrum, loss of cupid's bow, and full supraorbital ridges. Six patients exhibited autistic-like behaviors. Microscopically visible chromosome deletions were observed in 6 patients. In the remainder, the deletion was detected with the use of fluorescence in situ hybridization. CONCLUSIONS: Hypotonia and developmental delay are nonspecific findings observed in many malformation and genetic syndromes. However, in association with severe speech and language delay and autistic-like behavior, this phenotype may be a significant indication to consider the 22q13 deletion syndrome as a potential cause.

Abnormalities, Multiple↗

PubMed2003

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

We present here a unique case of a 14-year-old female with autism and some features similar to Rett syndrome (RTT). Genetic analysis demonstrated a large deletion of chromosome 2q instead of a MECP2 mutation. Like a Rett patient, she is dyspraxic and shows frequent hand-washing stereotypic activities, hyperpnea, and bruxism. Like a preserved speech variant (PSV) of RTT, she is obese, able to speak in second and third persons, frequently echolalic, and has final normal head circumference and autistic behavior. In addition, she has dysmorphic features such as down-slanting palpebral fissures, low set ears without lobuli, bilateral flat feet, and bilateral syndactyly of the second and third toes, which do not belong to the Rett spectrum. She has a de novo chromosomal deletion in 2q34 of paternal origin. Gene content analysis of the deleted region showed the presence of 47 genes (14 putative and 33 known genes). This region contains some interesting genes such as ADAM23/MDC3, CREB1, KLF7, and MAP2. Because alteration of neuronal maturation, dendritic anomalies, and a decrease in MAP2 immunoreactivity in white matter neurons are well documented in RTT patients, we propose MAP2 gene as a good candidate for the generation of PSV phenotype in this case.

Adolescent↗

PubMed2005

Gaze and arrow cueing of attention reveals individual differences along the autism spectrum as a function of target context.

Observing averted gaze results in a reflexive shift of attention to the gazed-at location. In two experiments, participants scoring high and low on the Autism-Spectrum Quotient questionnaire (AQ; Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001) observed arrow and gaze cues to investigate cueing effect magnitude as a function of the context in which peripheral targets could appear. While identical cueing effects were found with gaze and arrow cues, the more striking results concerned target stimuli. In Experiment 1, targets could appear on a peripheral face, or on scrambled face parts. Overall, greater cueing effects were found when the target appeared on a face. However, this face bias was only observed in participants with low AQ scores, whereas high AQ scorers oriented more to scrambled features. Experiment 2 found equal cueing to targets appearing on tools, as compared with tool parts. However, individual differences were again observed, where low AQ scorers showed larger cueing towards tools, while high scorers oriented more to scrambled parts, as in Experiment 1. These results support the idea that low AQ individuals orient strongly to objects attended by others. However, since the same results were found for arrow cues, this effect may generalize to all central cues to attention. High AQ scorers possessing many more autistic-like traits tended to orient more to scrambled shapes, perhaps reflecting a bias for orienting to local details.

Adult↗

PubMedDate not supplied

Autism: xenobiotic influences.

The advances in medical technology during the last four decades has provided evidence for an underlying neurological basis for autism. The etiology for the variations of neurofunctional anomalies found in the autistic spectrum behaviors appears inconclusive as of this date but growing evidence supports the proposal that chronic exposure to toxic agents, i.e., xenobiotic agents, to a developing central nervous system may be the best model for defining the physiological and behavioral data found in these populations. A total of 20 subjects (15 males and 5 females) who received a formal diagnosis of autism by a developmental pediatrician, pediatric neurologist, or licensed psychologist were included. The mean age for the sample was 6.35 yrs offnge = 3-12 years). This study employed several measures that collectively would provide evidence of burden levels of xenobiotic agents and abnormal liver detoxication processes. These included: (1) Glucaric Acid Analysis, (2) blood analyses for identification of specific xenobiotic agents, and (3) Comprehensive Liver Detoxification Evaluation. Kolmogorov-Smirnov testing for a chi-square and Normal distribution of the Glucaric Acid finding indicates that each of these distributions is significantly different from expected distributions (p < .01). It is most noteworthy that of the 20 cases examined for this study, 100% of the cases showed liver detoxication profiles outside of normal. An examination of 18 autistic children in blood analyses that were available showed that 16 of these children showed evidence of levels of toxic chemicals exceeding adult maximum tolerance. In the two cases where toxic chemical levels were not found, there was abnormal D-glucaric acid findings suggesting abnormal xenobiotic influences on liver detoxication processes. A proposed mechanism for the interaction of xenobiotic toxins with immune system dysfunction and continuous and/or progressive endogenous toxicity is presented as it relates to the development of behaviors found in the autistic spectrum.

Autistic Disorder↗

PubMedDate not supplied

Autism: research into causes and intervention.

Autism spectrum conditions are neuro-developmental syndromes with strong heritability. Cognitive theories have had some success in explaining why the cluster of features should co-occur. Empathizing deficits have the potential to make sense of one triad of impairments (social difficulties, communication difficulties and imagining others' minds), and may have a brain basis in the amygdala and left medial frontal cortex. A strong systemizing drive may account for a distinct triad of strengths (good attention to detail, deep, narrow interests and islets of ability). The brain basis of systemizing is yet to be understood. Family genetics studies suggest that these same cognitive dimensions (reduced empathizing alongside a strong drive to systemize) may also characterize the 'broader phenotype' among first-degree relatives. Molecular genetic studies are underway and any candidate genes for autism will ultimately need to be tested in relation to the observed differences in the brain, cognition and behaviour. The ethics of genetic screening or gene therapy should be thought about well ahead of these becoming available, since there is by no means any consensus that these would be desirable given the wide range of phenotypic traits, not all of which are disabling. Future research will need to focus on evaluating the extent to which any form of intervention reduces the triad of impairments whilst supporting the triad of strengths.

Animals↗

PubMed2005

An analysis of music therapy program goals and outcomes for clients with diagnoses on the autism spectrum.

The researchers analyzed data related to goals and outcomes over 2 program years for 40 music therapy clients, ranging in age from 2-49 years, with diagnoses on the autism spectrum. They investigated music therapy interventions, session types, and formats most frequently used; goals most frequently addressed; assessed level of difficulty of clients and their situations; and generalization of skills attained in music therapy to other settings. The most common session type was individual, followed by partner, small or large groups, peer model, or a combination. Primary goal areas were ranked from language/communication (41%), behavioral/psychosocial (39%), cognitive (8%), and musical (7%), to perceptual/motor (5%). One hundred percent of subjects reached their initial objectives in these goal areas within one year or less, regardless of session type, level of difficulty, or goal area. Seventy-seven percent of intermediate objectives were reached within that time. The most frequently utilized interventions were interactive instrument playing, musical instrument instruction, interactive singing, instrument choices, and song choices. Specific interventions chosen did not affect accomplishment of initial objectives. However, there was more variation among interventions in terms of achievement of intermediate objectives. Session formats were ranked from activity-based as most frequent to lesson-based, client-led/"shadow," and ensemble format. All formats were successful when addressing initial objectives, with lesson-based format being most effective in reaching intermediate objectives. Lastly, 100% of parents and caregivers surveyed indicated subjects generalized skills/responses acquired in music therapy to non-music therapy environments.

Adolescent↗

PubMed2003

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

PURPOSE OF REVIEW: Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients. RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation. Patients with these aforementioned diseases and ARX mutations were not reported to have brain imaging abnormalities. In contrast, mutations in ARX mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typically includes severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midbrain malformations), intractable seizures, and a severely shortened lifespan. ARX knockout mice manifest defects in overall neuroblast proliferation as well as selective abnormalities in gamma-aminobutyric acid-ergic interneuron migration. Consistent with these findings in mice, phenotype/genotype studies in humans suggest that truncating mutations cause X-linked lissencephaly with abnormal genitalia, and insertion/missense mutations result in epilepsy and mental retardation without cortical dysplasia. SUMMARY: Mutations in the homeobox gene, ARX, cause a diverse spectrum of disease that includes cognitive impairment, epilepsy, and in another group of patients severe cortical malformations. Although the precise prevalence of ARX mutations is unclear, ARX may rival Fragile X as a cause of mental retardation and epilepsy in males.

Animals↗

PubMed2003

Visual agnosia in a child with non-lesional occipito-temporal CSWS.

In this paper we describe a case of severe visual agnosia in a child with an electrophysiological pattern of continuous spike-wave discharges in slow sleep (CSWS) in the occipito-temporal regions. The neuropsychological spectrum related to this phenomenon is discussed. Published paediatric reports associate visual agnosia (i.e. an inability to recognize objects without impairment of visual acuity) mainly with symptomatic occipito-temporal aetiology (e.g. cortical dysplasia, vascular insults) and other neurological symptoms (e.g. autism). We describe a detailed 2 year electrophysiological and neuropsychological follow-up of an 8-year-old boy with sporadic seizures, occipito-temporal CSWS and visual agnosia. The growth and neurological development of the child had been considered as normal, neurological examination did not reveal any focal signs, visual acuity was intact and MRI was normal. First EEG and six consecutive 24 h video EEG recordings during the follow-up of 22 months showed continuous spike-and-wave activity covering over 85% of the non-REM sleep. According to structured neuropsychological tests (Wechsler Intelligence Scale for Children--Third Edition, A Developmental Neuropsychological Assessment (NEPSY), Test of Visual-Perceptual Skills, Corsi block, Hooper Visual Organization Test) the boy had normal verbal intelligence but major deficits in visual perception, especially in object recognition, impaired shape discrimination and detection, and poor copying skills. Attention and executive functions were intact. There were no difficulties in short- or long-term memory. Verbal cues and naming the objects improved visual memory. Tracing the objects with a finger or by moving the head improved object recognition. Currently the boy attends a special school with a rehabilitation plan including neuropsychological and occupational therapies. This case adds a new facet to the spectrum of neuropsychological deficits in children with CSWS. Sleep EEG should be included in the etiological studies of children with specific neuropsychological problems and detailed neuropsychological assessment is needed for diagnostic and rehabilitation purposes.

Agnosia↗

PubMed2002

Treatment of autism spectrum children with thiamine tetrahydrofurfuryl disulfide: a pilot study.

OBJECTIVES: In a Pilot Study, the clinical and biochemical effects of thiamine tetrahydrofurfuryl disulfide (TTFD) on autistic spectrum children were investigated. SUBJECTS AND METHODS: Ten children were studied. Diagnosis was confirmed through the use of form E2, a computer assessed symptom score. For practical reasons, TTFD was administered twice daily for two months in the form of rectal suppositories, each containing 50 mg of TTFD. Symptomatic responses were determined through the use of the computer assessed Autism Treatment Evaluation Checklist (ATEC) forms. The erythrocyte transketolase (TKA) and thiamine pyrophosphate effect (TPPE), were measured at outset and on completion of the study to document intracellular thiamine deficiency. Urines from patients were examined at outset, after 30 days and after 60 days of treatment and the concentrations of SH-reactive metals, total protein, sulfate, sulfite, thiosulfate and thiocyanate were determined. The concentrations of metals in hair were also determined. RESULTS: At the beginning of the study thiamine deficiency was observed in 3 out of the 10 patients. Out of 10 patients, 6 had initial urine samples containing arsenic in greater concentration than healthy controls. Traces of mercury were seen in urines from all of these autistic children. Following administration of TTFD an increase in cadmium was seen in 2 children and in lead in one child. Nickel was increased in the urine of one patient during treatment. Sulfur metabolites in urine did not differ from those measured in healthy children. CONCLUSIONS: Thiamine tetrahydrofurfuryl disulfide appears to have a beneficial clinical effect on some autistic children, since 8 of the 10 children improved clinically. We obtained evidence of an association of this increasingly occurring disease with presence of urinary SH-reactive metals, arsenic in particular.

Arsenic↗

PubMed2005

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates.

BACKGROUND: Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family studies point to a significant genetic etiology, and several groups have performed genomic linkage screens to identify susceptibility loci. METHODS: We performed a genome-wide linkage screen in 158 combined Tufts, Vanderbilt and AGRE (Autism Genetics Research Exchange) multiplex autism families using parametric and nonparametric methods with a categorical autism diagnosis to identify loci of main effect. Hypothesizing interdependence of genetic risk factors prompted us to perform exploratory studies applying the Ordered-Subset Analysis (OSA) approach using LOD scores as the trait covariate for ranking families. We employed OSA to test for interlocus correlations between loci with LOD scores > or =1.5, and empirically determined significance of linkage in optimal OSA subsets using permutation testing. Exploring phenotypic correlates as the basis for linkage increases involved comparison of mean scores for quantitative trait-based subsets of autism between optimal subsets and the remaining families. RESULTS: A genome-wide screen for autism loci identified the best evidence for linkage to 17q11.2 and 19p13, with maximum multipoint heterogeneity LOD scores of 2.9 and 2.6, respectively. Suggestive linkage (LOD scores > or =1.5) at other loci included 3p, 6q, 7q, 12p, and 16p. OSA revealed positive correlations of linkage between the 19p locus and 17q, between 19p and 6q, and between 7q and 5p. While potential phenotypic correlates for these findings were not identified for the chromosome 7/5 combination, differences indicating more rapid achievement of "developmental milestones" was apparent in the chromosome 19 OSA-defined subsets for 17q and 6q. OSA was used to test the hypothesis that 19p linkage involved more rapid achievement of these milestones and it revealed significantly increased LOD* scores at 19p13. CONCLUSIONS: Our results further support 19p13 as harboring an autism susceptibility locus, confirm other linkage findings at 17q11.2, and demonstrate the need to analyze more discreet trait-based subsets of complex phenotypes to improve ability to detect genetic effects.

Adolescent↗

PubMed2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. METHODS: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing. CONCLUSION: This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies."

Humans↗

PubMed2006

Predicting Autism Spectrum Quotient (AQ) from the Systemizing Quotient-Revised (SQ-R) and Empathy Quotient (EQ).

BACKGROUND: Empathizing is a specific component of social cognition. Empathizing is also specifically impaired in autism spectrum condition (ASC). These are two dimensions, measurable using the Empathy Quotient (EQ) and the Autism Spectrum Quotient (AQ). ASC also involves strong systemizing, a dimension measured using the Systemizing Quotient (SQ). The present study examined the relationship between the EQ, AQ and SQ. The EQ and SQ have been used previously to test for sex differences in 5 'brain types' (Types S, E, B and extremes of Type S or E). Finally, people with ASC have been conceptualized as an extreme of the male brain. METHOD: We revised the SQ to avoid a traditionalist bias, thus producing the SQ-Revised (SQ-R). AQ and EQ were not modified. All 3 were administered online. SAMPLE: Students (723 males, 1038 females) were compared to a group of adults with ASC group (69 males, 56 females). AIMS: (1) To report scores from the SQ-R. (2) To test for SQ-R differences among students in the sciences vs. humanities. (3) To test if AQ can be predicted from EQ and SQ-R scores. (4) To test for sex differences on each of these in a typical sample, and for the absence of a sex difference in a sample with ASC if both males and females with ASC are hyper-masculinized. (5) To report percentages of males, females and people with an ASC who show each brain type. RESULTS: AQ score was successfully predicted from EQ and SQ-R scores. In the typical group, males scored significantly higher than females on the AQ and SQ-R, and lower on the EQ. The ASC group scored higher than sex-matched controls on the SQ-R, and showed no sex differences on any of the 3 measures. More than twice as many typical males as females were Type S, and more than twice as many typical females as males were Type E. The majority of adults with ASC were Extreme Type S, compared to 5% of typical males and 0.9% of typical females. The EQ had a weak negative correlation with the SQ-R. DISCUSSION: Empathizing is largely but not completely independent of systemizing. The weak but significant negative correlation may indicate a trade-off between them. ASC involves impaired empathizing alongside intact or superior systemizing. Future work should investigate the biological basis of these dimensions, and the small trade-off between them.

Adolescent↗