This data table provides a collection of information from peer-reviewed autism prevalence studies. Information reported from each study includes the autism prevalence estimate and additional study characteristics (e.g., case ascertainment and criteria). A PubMed search was conducted to identify studies published at any time through September 2020 using the search terms: autism (title/abstract) OR autistic (title/abstract) AND prevalence (title/abstract). Data were abstracted and included if the study fulfilled the following criteria: • The study was published in English; • The study produced at least one autism prevalence estimate; and • The study was population-based (any age range) within a defined geographic area.

SFARI_EEG multi-paradigm dataset (Raw)

Overview

This dataset provides raw EEG from children recorded across seven complementary paradigms designed to assay neuro-oscillatory function spanning basic sensory through cognitive control and motor systems. This dataset contains data for three groups of children: 44 typically developing (TD), 66 autism spectrum disorder (ASD), and 28 sibling of individuals with ASD (SIB) participants, all between 8 and 13 years of age. Data are organized in BIDS 1.10.1 format (Dataset Type: raw).

The scientific motivation is to enable robust, large-sample mapping of oscillatory dysfunction in autism spectrum disorder (ASD) across the major frequency bands (theta, alpha, beta, gamma) using a common acquisition platform and harmonized annotations. By sampling multiple assays within the same participants, these data support both targeted hypothesis-driven analyses and data-driven discovery (e.g., network/feature selection approaches for biomarker development and predictive modeling of dimensional traits relevant to social cognition and motor function).

Acquisition

• System: BioSemi ActiveTwo, 64 channels (BioSemi64 montage)
• Sampling rate: 512 Hz
• Power line frequency: 60 Hz
• Trigger channel: Status (BioSemi)

Participants

• To be included in the ASD group, participants had to meet diagnostic criteria for ASD on the basis of the following measures: 1) autism diagnostic observation schedule 2 (ADOS-2) (Lord et al., 1994); 2) diagnostic criteria for autistic disorder from the Diagnostic and Statistical Manual of Mental Disorders (DSM-5); 3) clinical impression of a licensed clinician with extensive experience in diagnosis and evaluation of children with ASD. Due to precautions during the COVID-19 pandemic, a subset of ASD participants (n=9) was not able to complete the ADOS-2 evaluation, as masking requirements impacted administration. These participants instead underwent the Childhood Autism Rating Scale 2 (CARS-2) and Autism Diagnostic Interview-Revised (ADI-R) for diagnostic assessment. Participants in the TD group met the following inclusion criteria: no history of neurological, developmental, or psychiatric disorders, no first-degree relatives diagnosed with ASD, and enrollment in an age-appropriate grade in school. The SIB group participants met the same criteria as the TD group, except that they had a sibling diagnosed with ASD. Exclusion criteria for all groups included: (1) a known genetic syndrome associated with an IDD (including syndromic forms of ASD), (2) a history of or current use of medication for seizures in the past 2 years, (3) significant physical limitations (e.g., vision or hearing impairments, as screened over the phone and on the day of testing), (4) premature birth (<35 weeks) or having experienced significant prenatal/perinatal complications, or (5) a Full Scale IQ (FS-IQ) of less than 80.

• See participants.tsv and participants.json in each specific paradigm for more details.

Data quality & preprocessing notes

Raw EEG is provided without preprocessing.

Notes

• This work was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI Award # 874845, SM). Support for recruitment and phenotyping of participants was provided by the Human Clinical Phenotyping Core of the NICHD funded Rose. F. Kennedy Intellectual and Developmental Disabilities Research Center (P50 HD105352, SM)

Description of the tasks

Auditory Steady-State Response (ASSR_run)

EEG recorded during an Auditory Steady-State Response (ASSR) in children.

• Participants were seated in a chair in an electrically shielded room (International Acoustics Company, Bronx, New York), 70 cm away from the visual display (Dell UltraSharp 1704FPT). Auditory stimuli were 500-ms binaural click trains at either 27- or 40-Hz, presented through HD 650 Sennheiser headphones at 60 dB SPL. Inter-stimulus interval was randomly jittered between 488-788 ms. On 15% of trials, an oddball stimulus presented at a different frequency (27-Hz for 40-Hz trials, 40-Hz for 27-Hz trials) was randomly intermixed among the standards. Participants were instructed to respond via button-press when they identified an oddball stimulus, to promote attention to the auditory stimuli. Stimuli were presented in four randomly presented blocks of 100 trials—blocked by stimulus type (40-Hz standard, 27-Hz standard), consisting of 170 trials per standard frequency and 30 trials per oddball stimulus.

  Events:

• Codes: '27_Hz_Standard': 21, '40_Hz_Oddball': 12, '40_Hz_Standard': 11, '27_Hz_Oddball': 22, 'Block_27_Hz_Standard': 27, 'Block_40_Hz_Standard': 40, 'Half_Block_Pause': 199, 'Response_button':1}

• Onsets are stimulus onsets derived from the Status channel.

• See each *_events.tsv for per-run details.

Notes: - Please cite:

Face Processing (FAST_run)

EEG recorded during a social attentional task (FAST) in children.

• Participants were seated in a chair in an electrically shielded room (International Acoustics Company, Bronx, New York), 70 cm away from the visual display (Dell UltraSharp 1704FPT). The stimuli, controlled by Presentation software (Neurobehavioral Systems), were faces ('Social') or objects (‘Non-Social’), each shown as upright and inverted images, along with shadow versions. Participants were instructed to press a button as quickly as possible upon detecting a shadow stimulus (presented at 20% probability). A jittered interstimulus interval (900–1100ms) reduced onset predictability. The task comprised 720 trials across 12 blocks (60 trials/block, ~3 minutes and 40 seconds each). Blocks were organized by stimulus category; each block contained only social stimuli (i.e., upright and inverted faces with their shadow versions) or non-social stimuli. There were six blocks of social and six blocks of non-social in total). Face and object images (upright/inverted) were randomly chosen from a pool of 28 stimuli. All faces depicted a positive emotion, (i.e., smiling faces; see the github folder for stimuli). Shadow faces and objects were chosen across a reduced pool of 5 stimuli. Responses were recorded using a response pad (Logitech Wingman Precision Gamepad), and stimulus and response triggers were sent from the PC acquisition computer via Presentation software.

Events: - Codes: Face_upright=21, Face_inverted=22, Face_upright_shadow=121, Face_inverted_shadow=122, Object_upright=31, Object_inverted=32, Object_upright_shadow=131, Object_inverted_shadow=132 - Onsets are stimulus onsets derived from the Status channel. - See each *_events.tsv for per-run details.

Note: - Please cite: in preparation

Intersensory Attention (Beepflash_run) Cued S1→S2 design indicating whether to attend visual or auditory targets. Primary measures: posterior alpha increases indexing suppression of task-irrelevant sensory input and intersensory attentional gating.

Audiovisual simple reaction time task (AVSRT_run)

EEG recorded during an audiovisual simple reaction-time task (AVSRT) in children.

• Participants were seated in a chair in an electrically shielded room (International Acoustics Company, Bronx, New York), 70 cm away from the visual display (Dell UltraSharp 1704FPT). The stimuli, controlled by Presentation software (Neurobehavioral Systems), included three types: a red disc ('Visual'), a 1000Hz tone ('Audio'), and their simultaneous presentation ('Audiovisual'). Participants were instructed to press a button as quickly as possible upon detecting any stimulus. The auditory stimulus was 1000Hz, 60ms tone presented binaurally (75 dB SPL). The visual stimulus was a red disc subtending to 1.5 degrees, displayed above a fixation cross. The audiovisual stimulus was a simultaneous presentation of both. Each trial presented a pseudo randomly chosen stimulus (A, V, or AV; represented equiprobably), with stimuli delivered through headphones (XX) and displayed on a flat-panel LCD (60Hz). A jittered randomly sampled interstimulus interval (1000-3000ms) reduced onset predictability. The task consisted of 400 trials across 4 blocks (100 trials per block), each block lasting approximately 3 minutes and 40 seconds. Button presses were recorded using a response pad (Logitech Wingman Precision Gamepad). Triggers indicating stimulus latency were sent from the PC acquisition computer via Presentation software.

Events: - Codes: AV=3, A=4, V=5 - Onsets are stimulus onsets derived from the Status channel. - See each *_events.tsv for per-run details.

Note: - Please cite: in preparation

Motor Processing (Motor_run)

EEG recorded during a mobile EEG paradigm in children. This paradigm is recorded using Lab Streaming Layer to synchronize the camera system (for gait measures) with the EEG recordings.

• Participants are either standing on a treadmill (30 sec recordings) or walking on a treadmill (5 min recordings) with either no flow (static background with white dots) or a flow (dots are moving toward the participant). The task is to ignore the white dots and to respond when the fixation cross at the center of the projected image rotate (45 degrees rotation).

Events: - Codes: - Onsets are stimulus onsets derived from the Status channel. - See each *_events.tsv for per-run details.

Cross-sensory attentional switching task (Beep-Flash_run)

EEG recorded during a cross-sensory attentional task (Beep-Flash) in children.

• Participants were seated in a chair in an electrically shielded room (International Acoustics Company, Bronx, New York), 70 cm away from the visual display (Dell UltraSharp 1704FPT). A cued intersensory attention task was employed in which each trial consisted of an instructional cue (S1), an

The dataset consists of two excel files. One (Full_Data_Arora...) contains data for all 105 individuals in the study described below. The other (Data_Arora...) is a subset of the data containing the data for the 48 complete twins that were part of the study.

In this study, individuals (N=105) and 48 complete twin pairs were selected from the RATSS cohort , which is a neurodevelopmental condition (NDC) enriched twin sample recruited from the general Swedish population between June 2011 and December 2015, for untargeted mass spectrometry-based urine metabolomics. Detailed inclusion and exclusion criteria for RATSS have been previously published. Among the recruited twins, we selected participants for this study based on the autism diagnosis status, whether the twin pair was concordant (both with autism diagnosis) or discordant (only one with autism diagnosis) and if they had available urine samples. Furthermore, we age- and sex-matched the non-autistic twin pairs. The study was approved by the Swedish Ethical Review Authority (2016/1452-31). Written informed consent was obtained from all participants or their caregivers, based on their age. During a 2.5-day study visit, a team of clinical professionals conducted a diagnostic evaluation of the participants in line with the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) guidelines. The evaluation utilised a combination of diagnostic interviews, a review of medical history documents, and the use of established diagnostic measures [19]. This included behavioural assessment tools such as the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule 2nd Edition (ADOS-2). Furthermore, additional tools were used to establish the diagnosis of other NDCs, if any, such the Diagnostic Interview for ADHD in Adults (DIVA-2), the Structured Clinical Interview for DSM-IV (SCID-IV), and the Adaptive Behavior Assessment System (ABAS) – more detailed information about the same is available in the publication by Bölte and colleagues (PMID: 24735654). Autistic traits were evaluated with the parent-report version of the Social Responsiveness Scale 2nd Edition (SRS-2), consisting of 65 items. Intelligence quotient (IQ) was measured by using the Wechsler Intelligence Scale for Children or Adults - IV General Ability Index (GAI). Additionally, the participants were asked for a list of their current, regularly used medications during the study visit. As there was a collection of different medications including antidepressants and ADHD medication, all were grouped together and adjusted for in our analyses. No subgrouping was possible for the drugs due to lack of power to detect metabolomic effects of specific drugs.

Urine collection and metabolite extraction The urine samples were collected at the last day of the visit from the study participants. First, the participants were informed about the urine sample collection into a special urine cup. The urine cup was then given to a research nurse who transferred 10 mL of the collected urine to a sterile vacutainer tube with no additives. The sample was then directly transported, aliquoted and stored in the Karolinska Institutet Biobank at -80 °C. The collected samples were further transported for analysis to the Proteomics and Metabolomics Facility, University of Tuscia, Italy. All samples were handled as per the same stated protocol. Before the metabolomic analysis, the urinary specific gravity was measured following centrifugation at 13,000 g for 10 minutes. Urine aliquots (200 μl) were mixed with 200 μl of methanol:acetonitrile:water (50:30:20), vortexed for 30 minutes, maximum speed at 4 °C and then centrifuged at 16,000 g for 15 minutes at 4 °C. Supernatants were collected for metabolomic analysis.

Ultra-High Performance Liquid Chromatography (UHPLC) For the experiments, 20 µL of samples were injected into a UPLC system (Ultimate 3000, Thermo Scientific) and were analysed on positive mode: samples were loaded onto a Reprosil C18 column (2.0 mm × 150 mm, 2.5 μm - Dr Maisch, Germany) for metabolite separation. Chromatographic separations were achieved at a column temperature of 30 °C and flow rate of 0.2 mL/min. A linear gradient (0–100%) of solvent A (ddH2O, 0.1% formic acid) to B (acetonitrile, 0.1% formic acid) was employed over 20 minutes, returning to 100% solvent A in 2 minutes and a 6-minute post-time solvent A hold. Acetonitrile, formic acid, and HPLC-grade water were purchased from Sigma Aldrich.

High Resolution Mass Spectrometry (HRMS) The UPLC system was coupled online with a mass spectrometer, Q Exactive (Thermo Scientific), scanning in full MS mode (2 μ scans) at a resolution of 70,000 in the 67 to 1000 m/z range, target of 1 × 106 ions and a maximum ion injection time (IT) of 35 ms, 3.8 kV spray voltage, 40 sheath gas, and 25 auxiliary gas, operated in negative and then positive ion mode. Source ionization parameters were: spray voltage, 3.8 kV; capillary temperature, 300 °C; and S-Lens level, 45. Calibration was performed before each analysis against positive or negative ion mode calibration mixes (Piercenet, Thermo Fisher, Rockford, IL) to ensure sub-ppm error of the intact mass.

Metabolite quantification Data were normalized by urinary specific gravity because creatinine excretion may be abnormally reduced in autistic children [31]. Replicates were exported as mzXML files and processed through MAVEN [32]. Mass spectrometry chromatograms were elaborated for peak alignment, matching and comparison of parent and fragment ions, and tentative metabolite identification (within a 10-ppm mass deviation range between observed and expected results against the imported Kyoto Encyclopaedia of Genes and Genomes (KEGG) database .