CovidResearchTrials by Shray Alag


CovidResearchTrials Covid 19 Research using Clinical Trials (Home Page)


HP:0000729: Autistic behaviorHPO

Developed by Shray Alag
Clinical Trial MeSH HPO Drug Gene SNP Protein Mutation


Correlated Drug Terms (27)


Name (Synonyms) Correlation
drug607 Canakinumab Injection 300mg Wiki 0.33
drug1462 Interview by psychologists Wiki 0.33
drug1200 Group Social ABCs Wiki 0.33
drug2344 RO6953958 Wiki 0.33
drug2617 Sham Attention Training Wiki 0.33
drug619 Carotid Artery Reactivity Testing Wiki 0.33
drug608 Canakinumab Injection 600mg Wiki 0.33
drug618 Caring Contacts Wiki 0.33
drug2055 Parents and Infants Engaged Wiki 0.33
drug292 Attention Training Program Wiki 0.33
drug2435 Responsive training with no video feedback Wiki 0.33
drug612 Capillary and salivary sampling Wiki 0.33
drug2650 Social ABCs Wiki 0.33
drug103 ASSIST Wiki 0.33
drug828 Daily Monitoring Wiki 0.33
drug2436 Responsive training with video feedback Wiki 0.33
drug616 Cardiac surgery Wiki 0.33
drug613 Caption AI Wiki 0.33
drug994 Emotional Support Plan Wiki 0.33
drug2966 Treatment As Usual Wiki 0.33
drug603 Camostat Mesilate Wiki 0.30
drug2031 PLACEBO Wiki 0.24
drug2828 Taking blood samples (capillary and venous), saliva sampling and nasopharyngeal sampling. Wiki 0.24
drug610 Cannabidiol Wiki 0.24
drug2176 Placebos Wiki 0.08
drug2122 Placebo Wiki 0.05
drug1284 Hydroxychloroquine Wiki 0.03

Correlated MeSH Terms (10)


Name (Synonyms) Correlation
D000067877 Autism Spectrum Disorder NIH 1.00
D001321 Autistic Disorder NIH 0.88
D002659 Child Development Disorders, Pervasive NIH 0.58
D065886 Neurodevelopmental Disorders NIH 0.47
D001289 Attention Deficit Disorder with Hyperactivity NIH 0.33
D002658 Developmental Disabilities NIH 0.33
D006948 Hyperkinesis NIH 0.24
D004194 Disease NIH 0.23
D001523 Mental Disorders NIH 0.07
D013315 Stress, Psychological NIH 0.07

Correlated HPO Terms (3)


Name (Synonyms) Correlation
HP:0000717 Autism HPO 0.88
HP:0007018 Attention deficit hyperactivity disorder HPO 0.33
HP:0002487 Hyperkinetic movements HPO 0.24

There are 9 clinical trials

Clinical Trials


1 Evaluation of Social ABCs With Attention Training Intervention for Toddlers With Autism

The Social ABCs is an evidence-based, developmentally informed, caregiver-mediated behavioural intervention for toddlers with suspected or confirmed Autism Spectrum Disorder (ASD). It is based on principles of Pivotal Response Treatment (PRT, grounded in Applied Behaviour Analysis), and responsive parenting. The two key targets of this program are functional verbal communication and positive caregiver-child affect sharing. This intervention takes place in the context of play and daily routines, and in all contexts is made to be fun, natural and motivating for the child. In both a pilot study and a recently completed randomized control trial, toddlers whose caregivers received training in the Social ABCs intervention showed significant gains in early language development (both responsivity and initiations), increased child smiling (mediated by parent smiling), and a trend toward increased social orienting (one important manifestation of social attention). Despite the social-communication benefits demonstrated through the Social ABCs, the research team is also motivated to foster the attentional abilities of toddlers with emerging ASD in response to compelling evidence that early attentional control abilities may play a central role in the emergence of ASD. Based on this knowledge, the current study targets not only social-communication challenges and affect sharing (as per the existing Social ABCs intervention), but also attentional control in toddlers with suspected or confirmed ASD. Using a structured, computerized attention-training protocol, this RCT evaluates the impact of supplementing the standard Social ABCs intervention with pre-intervention attentional control training.

NCT03215394 Autism Spectrum Disorder Behavioral: Attention Training Program Behavioral: Social ABCs Other: Treatment As Usual Behavioral: Sham Attention Training
MeSH:Autistic Disorder Autism Spectrum Disorder
HPO:Autism Autistic behavior

Primary Outcomes

Description: Reaction time in Gap-Overlap task (milliseconds)

Measure: Improved Attentional Flexibility

Time: Week 1 (baseline) and Week 6

Description: Percentage of correct trials in a computer-based attention task (%)

Measure: Improved Attentional Control

Time: Week 1 (baseline) and Week 6

Description: Percentage of intervals in which child is oriented to caregiver (%)

Measure: Increased Social Orienting to Parent

Time: Week 1 (baseline), Week 6, Week 18, and Week 30

Description: Percentage of intervals in which caregiver and child are smiling together (%)

Measure: Increased Child Smiling

Time: Week 1 (baseline), Week 6, Week 18, and Week 30

Description: Gains in proportion of appropriate child vocal responses, following a caregiver prompt (reported as percentage).

Measure: Increased Child Responsivity to Parent Prompt

Time: Week 1 (baseline), Week 6, Week 18, and Week 30

Secondary Outcomes

Description: Percentage of intervals during which parents demonstrate appropriate use of the Social ABCs techniques (%)

Measure: Parent Fidelity of Implementation

Time: Week 6, Week 18, and Week 30

Description: Standard score on the Mullen Early Learning Scale (SS)

Measure: Receptive Language

Time: Week 0 and Week 30

Description: Standard score on the Mullen Early Learning Scale (SS)

Measure: Expressive Language

Time: Week 0 and Week 30

Description: Frequency of joint attentions bids on the Mini Early Social Communication (#)Scales

Measure: Joint Attention

Time: Week 0 and Week 30

2 Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders

This study entails a "proof of concept" evaluation of a novel intervention, Parents and Infants Engaged (PIE), for prodromal infants at-risk for neurodevelopmental disorders (NDs). The objectives of the current study are to examine whether the PIE intervention (a) transforms parent-infant transactions over time as intended, thereby facilitating increases in the time infants spend in joint engagement with their parents, and (b) is associated with improved social-communication functioning and positive changes in indices of autonomic self-regulation in infants at-risk for NDs.

NCT03388294 Autism Spectrum Disorder Neurodevelopmental Disorders Behavioral: Parents and Infants Engaged
MeSH:Disease Autism Spectrum Disorder Neurodevelopmental Disorders
HPO:Autistic behavior

Primary Outcomes

Description: This system entails continuous coding of infants' attention engagement into one of 6 mutually exclusive states: unengaged, onlooking, object engaged, person-engaged, supported joint engagement, and coordinated joint engagement. Due to the importance of the construct of engagement to our PIE theory of change, the total percent of time in joint engagement (supported + coordinated) will serve as the most proximal intervention outcome (i.e., changes expected at Posttest-1). Recent studies with children with NDs have shown that the coding system is sensitive to change in joint engagement after relatively short interventions.

Measure: Change in Parent Child Engagement Coding from pretest to posttest 1

Time: Baseline, posttest 1 (6-8 weeks after pretest)

Description: This system entails continuous coding of infants' attention engagement into one of 6 mutually exclusive states: unengaged, onlooking, object engaged, person-engaged, supported joint engagement, and coordinated joint engagement. Due to the importance of the construct of engagement to our PIE theory of change, the total percent of time in joint engagement (supported + coordinated) will serve as the most proximal intervention outcome (i.e., changes expected at Posttest-1). Recent studies with children with NDs have shown that the coding system is sensitive to change in joint engagement after relatively short interventions.

Measure: Change in Parent Child Engagement Coding from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Secondary Outcomes

Description: The MSEL is a standardized developmental assessment for children birth to 58 months, frequently used in studies of children with NDs, and comprised of 4 scales: Fine Motor, Visual Reception, Receptive Language, and Expressive Language. The investigators will administer only the Receptive and Expressive Language subscales of the MSEL at the second posttest and the first follow up assessment. To be eligible for the intervention portion of the study, children have to score at least 1 s.d. below the mean on either the Receptive or Expressive Language subscale of the MSEL. The investigators will report t scores (Mean = 50, SD = 10)and the standardized total Early Learning Composite (Mean = 100, SD = 15). Higher scores indicate greater developmental skills.

Measure: Change in Mullen Scales of Early Learning Receptive Language T-Scores from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: The MSEL is a standardized developmental assessment for children birth to 58 months, frequently used in studies of children with NDs, and comprised of 4 scales: Fine Motor, Visual Reception, Receptive Language, and Expressive Language. The investigators will administer only the Receptive and Expressive Language subscales of the MSEL at the second posttest and the first follow up assessment. To be eligible for the intervention portion of the study, children have to score at least 1 s.d. below the mean on either the Receptive or Expressive Language subscale of the MSEL. The investigators will report t scores (Mean = 50, SD = 10)and the standardized total Early Learning Composite (Mean = 100, SD = 15). Higher scores indicate greater developmental skills.

Measure: Change in Mullen Scales of Early Learning Expressive Language T-scores from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: A play-based assessment used to measure children's approach-avoidance to novel sensory toys (i.e., hyper-reactivity) and orienting responses (i.e., hypo-reactivity) across three sensory modalities (auditory, visual, tactile). The investigators will report a mean score for Hypo (range = 1-5), Hyper (range = 1-5) sensory subscales. Higher scores indicate greater sensory differences in that domain (e.g. a high hypo domain score would indicate more hyposensitive reactions to sensory stimuli seen in the child).

Measure: Change in Sensory Processing Assessment for Young Children from Pretest to Posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: A treatment response measure of social communication behaviors and other behaviors associated with autism spectrum disorder (ASD). Administration of the BOSCC involves a 12-minute video recorded interaction between an examiner and a young child using two standard sets of toys and play with bubbles. Behaviors are coded from video. Total score range is 16-80. Higher scores indicate more typical social communication skills, lower scores indicate poorer skills.

Measure: Change in The Behavioral Observation of Social Communication Change (BOSCC) from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: Designed to measure the extent to which children will follow attentional cues of the examiner. Six prompts for attention following are embedded into the larger study protocol. Items are scored dichotomously as yes "1" or no "0".Total score range is 0-6. Higher scores indicate more typical responses to bids for joint attention.

Measure: Change in The Attention Following Protocol (AF Protocol) from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: A parent report measure of children's expressive communication skills, such as vocabulary and pre-grammar abilities. The Words and Gestures (toddler) form will be used. Total words and gestures endorsed by parents will be reported. Greater words and gestures reported indicates larger expressive vocabulary.

Measure: Baseline expressive communication level: The MacArthur-Bates Communicative Development Inventory

Time: Baseline

Description: A 43 item parent questionnaire that asks about the child's responses to various sensory stimuli in the context of functional activities and daily routines in the child's environment. It also documents strategies parents use to respond to their child's behaviors. Hyper and Hypo mean domain scores will be reported (range = 1-5). Greater domain scores indicate a greater presence of that type of sensory response.

Measure: Change in The Sensory Experiences Questionnaire version 2.1 from pretest to posttest 1

Time: Baseline, posttest 1 (6-8 weeks after pretest)

Description: A 43 item parent questionnaire that asks about the child's responses to various sensory stimuli in the context of functional activities and daily routines in the child's environment. It also documents strategies parents use to respond to their child's behaviors. Hyper and Hypo mean domain scores will be reported (range = 1-5). Greater domain scores indicate a greater presence of that type of sensory response.

Measure: Change in The Sensory Experiences Questionnaire version 2.1 from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: The Parental Stress Scale is a brief, 18-item scale designed to assess parent stress in nonclinical or clinical populations. It has acceptable levels of internal consistency (coefficient α = .83) and test-retest reliability (r = .81 over 6 weeks). It has good concurrent validity with the widely used Parent StressIndex (r =.75), which is a longer, more intrusive measure. A total score will be reported (range = 18-90).

Measure: Baseline level of parent stress: Parental Stress Scale

Time: Baseline

Description: RSA levels will be collected using a standard protocol while the child is seated in a high chair exposed to social and non-social stimuli.

Measure: Change in Respiratory sinus arrhythmia from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: Skin conductance levels will be collected using a standard protocol while the child is seated in a high chair exposed to social and non-social stimuli.

Measure: Change in skin conductance levels from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: Parent-child interaction videos will be coded for parent responsiveness to child prelinguistic communication cues. These are each rated on a 0-7 scale. Higher scores indicate greater responsivity from parents.

Measure: Change in Parent Responsiveness to Child Prelinguistic Communication Cues from pretest to posttest 1

Time: Baseline, posttest 1 (6-8 weeks after pretest)

Description: Parent-child interaction videos will be coded for parent responsiveness to child prelinguistic communication cues. These are each rated on a 0-7 scale. Higher scores indicate greater responsivity from parents.

Measure: Change in Parent Responsiveness to Child Prelinguistic Communication Cues from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

Description: Parent-child interaction videos will be coded for parent responsiveness to child sensory reactivity cues. These are each rated on a 0-7 scale. Higher scores indicate greater responsivity from parents.

Measure: Change in Parent Responsiveness to Child Sensory Reactivity Cues from pretest to posttest 1

Time: Baseline, posttest 1 (6-8 weeks after pretest)

Description: Parent-child interaction videos will be coded for parent responsiveness to child sensory reactivity cues. These are each rated on a 0-7 scale. Higher scores indicate greater responsivity from parents.

Measure: Change in Parent Responsiveness to Child Sensory Reactivity Cues from pretest to posttest 2

Time: Baseline, posttest 2 (13-16 weeks after pretest)

3 Group Social ABCs: Early Intervention for Toddlers With Suspected ASD

The Social ABCs is an evidence-based, developmentally informed, caregiver-mediated behavioural intervention for toddlers with suspected or confirmed Autism Spectrum Disorder (ASD). It is based on principles of Pivotal Response Treatment (PRT, grounded in Applied Behavioural Analysis), and responsive parenting. The two key targets of this program are functional verbal communication and positive caregiver-child affect sharing. This intervention takes place in the context of play and daily routines, and in all contexts is made to be fun. In both a pilot study and a recently completed randomized control trial, toddlers whose caregivers received training in the Social ABCs intervention showed significant gains in early language development (both responsivity and initiations), increased child smiling (mediated by parent smiling), and a trend toward increased social orienting (one important manifestation of social attention). In an effort to make the Social ABCs more feasible for community service providers to provide this intervention to higher number families, an abbreviated version of the Social ABCs intervention is being offered in a mixed group/individual format in a clinic setting. The primary goal of this pilot project is to assess feasibility of this abbreviated program in the novel format and setting. The secondary goal is to train clinical service providers to facilitate this intervention, thus introducing the program into community practice.

NCT03499262 Autism Spectrum Disorder Autism Behavioral: Group Social ABCs
MeSH:Autistic Disorder Autism Spectrum Disorder
HPO:Autism Autistic behavior

Primary Outcomes

Description: Change in proportion of appropriate child vocal responses following a caregiver prompt in 10-minute video observation

Measure: Vocal Responsivity

Time: Baseline, Week 6

Secondary Outcomes

Description: Change in rate of appropriate child-initiated vocalizations (Initiations); number per minute

Measure: Vocal Initiations

Time: Baseline, Week 6

Description: Change in percentage of intervals with instances of social orienting (child looking at parent) per 10-minute video observation

Measure: Social Orienting

Time: Baseline, Week 6

Description: Change in percent of correct strategy implementation by parents (Fidelity) per 10-minute video observation

Measure: Caregiver Fidelity of Implementation

Time: Baseline, Week 6

4 Project ASSIST: Advocating for Supports to Improve Service Transitions

This is a randomized intervention study to test and develop the national curriculum of a parent intervention training targeting parent's ability for advocate for services to improve the transition to adulthood for their youth with autism spectrum disorder (ASD). UPDATE regarding COVID-19: The current intervention has been paused until it is safe to meet as a group again. We are still recruiting participants for cohort 2 (in TN and IL) and Cohort 1 and 2 (in WI), as the plan is to resume the intervention as soon as the situation allows and to keep the future scheduled interventions happening in the Fall of 2020, Fall of 2021 and Winter of 2022. For the baseline data collection visit, we have moved to remote data collection for all measures except the psychological testing with the youth - meaning that families will be able to partially complete baseline data via teleconference and/or phone calls and online surveys. In-person visits to complete the psychological testing with the youth will be scheduled in the future when it is safe to meet face to face.

NCT04173663 Autism Spectrum Disorder Autism Behavioral: ASSIST
MeSH:Autistic Disorder Autism Spectrum Disorder
HPO:Autism Autistic behavior

Primary Outcomes

Description: Examine whether ASSIST participation increases the intervention target of parental knowledge about adult service systems. A questionnaire created by the researchers (based on a measure developed to evaluate the VAP-T, Burke, Goldman, Hart, & Hodapp, 2016) will be used to measure parental knowledge about adult services. The questionnaire consists of 22 multiple-choice questions asking for factual information about adult disability services and the adult disability service system. The total score can range from 0 to 22. Higher scores indicate greater knowledge of the adult disability service system.

Measure: Change in Parental Knowledge about adult services questionnaire

Time: Baseline to initial follow-up (3 months after the intervention starts)

Description: Examine whether ASSIST participation increases the intervention target of parental empowerment measured using the Family Empowerment Scale (FES; Koren, DeChillo, & Friesen, 1992). The 34-item questionnaire measures the extent to which parents feel empowered across three dimensions: family, the service system; and the larger community and political environment. Items are rated on a 5-point Likert Scale from 1= not at all true to 5 = very true. The total score can range from 34 to 170, with higher scores indicating greater empowerment.

Measure: Change in Parental Empowerment Scale

Time: Baseline to initial follow-up (3 months after the intervention starts)

Description: Examine whether ASSIST participation increases the intervention target of parent advocacy skills measured by the Advocacy Skills and Comfort Scale (ASC; Burke, Goldman, Hart, & Hodapp, 2016). The 10-item measure assesses the degree to which parents feel comfortable and skilled in advocating for their offspring with ASD. Response options range from 1 = not at all to 5 = excellent. The total score can range from 10 to 50, with higher scores indicating more skills/comfort in advocating for their offspring.

Measure: Change in Advocacy Skills and Comfort Scale

Time: Baseline to initial follow-up (3 months after the intervention starts)

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family applied for.

Measure: Change in Access to Services interview: Number of services the family applied for

Time: Baseline to 12-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family is receiving.

Measure: Change in Access to Services interview: Number of services the family is receiving

Time: Baseline to 12-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of barriers to services that the family is experiencing / experienced.

Measure: Change in Access to Services interview: Barriers to services

Time: Baseline to 12-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in social participation for youth with ASD. Questions developed to measure social participation (Taylor, Adams, & Bishop, 2016) will be used to measure the social participation achievements of the youth participants before and after ASSIST per parent-report. This measure consists of 10 items with a 5-point Likert scale ranging from 0 = Less than yearly or never to 4 = Several times a week. The total score can range from 0 to 40, with higher scores indicating greater social participation for the youth with ASD.

Measure: Social Participation Youth Outcomes

Time: 12-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended 12 months after the intervention. The Vocational Index will be administered via structured interview.

Measure: Post-Secondary Youth Outcomes

Time: 12-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parent advocacy activities, measured using the Advocacy Activities measure (Taylor, Hodapp, Burke, Waitz-Kudla, & Rabideau, 2017).The 16-item instrument measures how frequently parents spend time in advocacy activities for the son/daughter with ASD. The response options range from 1 = not at all to 4 = very often. The total score can range from 16 to 64, with higher scores indicating greater parent participation in advocacy activities.

Measure: Change in Advocacy Activities Scale

Time: Baseline to 12-month post-intervention

Secondary Outcomes

Description: Examine whether ASSIST participation increases the intervention target of parental knowledge about adult service systems. A questionnaire created by the researchers (based on a measure developed to evaluate the VAP-T, Burke, Goldman, Hart, & Hodapp, 2016) will be used to measure parental knowledge about adult services. The questionnaire consists of 22 multiple-choice questions asking for factual information about adult disability services and the adult disability service system. The total score can range from 0 to 22. Higher scores indicate greater knowledge of the adult disability service system.

Measure: Change in Parental Knowledge about adult services questionnaire

Time: Baseline to 12-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parental knowledge about adult service systems. A questionnaire created by the researchers (based on a measure developed to evaluate the VAP-T, Burke, Goldman, Hart, & Hodapp, 2016) will be used to measure parental knowledge about adult services. The questionnaire consists of 22 multiple-choice questions asking for factual information about adult disability services and the adult disability service system. The total score can range from 0 to 22. Higher scores indicate greater knowledge of the adult disability service system.

Measure: Change in Parental Knowledge about adult services questionnaire

Time: Baseline to 18-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parental empowerment measured using the Family Empowerment Scale (FES; Koren, DeChillo, & Friesen, 1992). The 34-item questionnaire measures the extent to which parents feel empowered across three dimensions: family, the service system; and the larger community and political environment. Items are rated on a 5-point Likert Scale from 1= not at all true to 5 = very true. The total score can range from 34 to 170, with higher scores indicating greater empowerment.

Measure: Change in Parental Empowerment Scale

Time: Baseline to 12-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parental empowerment measured using the Family Empowerment Scale (FES; Koren, DeChillo, & Friesen, 1992). The 34-item questionnaire measures the extent to which parents feel empowered across three dimensions: family, the service system; and the larger community and political environment. Items are rated on a 5-point Likert Scale from 1= not at all true to 5 = very true. The total score can range from 34 to 170, with higher scores indicating greater empowerment.

Measure: Change in Parental Empowerment Scale

Time: Baseline to 18-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parent advocacy skills measured by the Advocacy Skills and Comfort Scale (ASC; Burke, Goldman, Hart, & Hodapp, 2016). The 10-item measure assesses the degree to which parents feel comfortable and skilled in advocating for their offspring with ASD. Response options range from 1 = not at all to 5 = excellent. The total score can range from 10 to 50, with higher scores indicating more skills/comfort in advocating for their offspring.

Measure: Change in Advocacy Skills and Comfort Scale

Time: Baseline to 12-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parent advocacy skills measured by the Advocacy Skills and Comfort Scale (ASC; Burke, Goldman, Hart, & Hodapp, 2016). The 10-item measure assesses the degree to which parents feel comfortable and skilled in advocating for their offspring with ASD. Response options range from 1 = not at all to 5 = excellent. The total score can range from 10 to 50, with higher scores indicating more skills/comfort in advocating for their offspring.

Measure: Change in Advocacy Skills and Comfort Scale

Time: Baseline to 18-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family applied for.

Measure: Change in Access to Services interview: Number of services the family applied for

Time: Baseline to 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family applied for.

Measure: Change in Access to Services interview: Number of services the family applied for

Time: Baseline to 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family applied for.

Measure: Change in Access to Services interview: Number of services the family applied for

Time: Baseline to 30-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family is receiving.

Measure: Change in Access to Services interview: Number of services the family is receiving

Time: Baseline to 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family is receiving.

Measure: Change in Access to Services interview: Number of services the family is receiving

Time: Baseline to 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of services that the family is receiving.

Measure: Change in Access to Services interview: Number of services the family is receiving

Time: Baseline to 30-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of barriers to services that the family is experiencing / experienced.

Measure: Change in Access to Services interview: Barriers to services

Time: Baseline to 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of barriers to services that the family is experiencing / experienced.

Measure: Change in Access to Services interview: Barriers to services

Time: Baseline to 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase access to services for youth with ASD transitioning from high school to adulthood. Using questions developed for the National Longitudinal Transition Study-2 (NLTS-2; Sanford et al., 2011), the investigators will collect data (via a semi-structured interview) on total number of barriers to services that the family is experiencing / experienced.

Measure: Change in Access to Services interview: Barriers to services

Time: Baseline to 30-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in social participation for youth with ASD. Questions developed to measure social participation (Taylor, Adams, & Bishop, 2016) will be used to measure the social participation achievements of the youth participants before and after ASSIST per parent-report. This measure consists of 10 items with a 5-point Likert scale ranging from 0 = Less than yearly or never to 4 = Several times a week. The total score can range from 0 to 40, with higher scores indicating greater social participation for the youth with ASD.

Measure: Social Participation Youth Outcomes

Time: Baseline

Description: Test whether parent participation in the ASSIST intervention leads to increase in social participation for youth with ASD. Questions developed to measure social participation (Taylor, Adams, & Bishop, 2016) will be used to measure the social participation achievements of the youth participants before and after ASSIST per parent-report. This measure consists of 10 items with a 5-point Likert scale ranging from 0 = Less than yearly or never to 4 = Several times a week. The total score can range from 0 to 40, with higher scores indicating greater social participation for the youth with ASD.

Measure: Social Participation Youth Outcomes

Time: 30-month post-intervention

Description: The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending. The Vocational Index will be administered via structured interview.

Measure: Post-Secondary Youth Outcomes

Time: Baseline

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended 6 months after the intervention. The Vocational Index will be administered via structured interview.

Measure: Post-Secondary Youth Outcomes

Time: 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended 24 months after the intervention. The Vocational Index will be administered via structured interview.

Measure: Post-Secondary Youth Outcomes

Time: 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended 30 months after the intervention. The Vocational Index will be administered via structured interview.

Measure: Post-Secondary Youth Outcomes

Time: 30-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in employment stability for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment that youth with ASD had before the intervention. The investigators will collect total number of jobs/positions that youth had. The Vocational Index will be administered via structured interview

Measure: Post-Secondary Youth Outcomes: Employment stability

Time: Baseline

Description: Test whether parent participation in the ASSIST intervention leads to increase in employment stability for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment that youth with ASD had before the intervention. The investigators will collect total number of jobs/positions that youth had. The Vocational Index will be administered via structured interview

Measure: Post-Secondary Youth Outcomes: Employment stability

Time: 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in employment stability for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment that youth with ASD had before the intervention. The investigators will collect total number of jobs/positions that youth had. The Vocational Index will be administered via structured interview

Measure: Post-Secondary Youth Outcomes: Employment stability

Time: 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in employment stability for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment that youth with ASD had before the intervention. The investigators will collect total number of jobs/positions that youth had. The Vocational Index will be administered via structured interview

Measure: Post-Secondary Youth Outcomes: Employment stability

Time: 30-month post-intervention

Description: The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended before ASSIST. The investigators will collect total number of hours per week spent in these activities.

Measure: Post-Secondary Youth Outcomes: Hours spent in activity

Time: Baseline

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended before and after ASSIST. Additionally, the investigators will collect total number of hours per week spent in these activities.

Measure: Post-Secondary Youth Outcomes: Hours spent in activity

Time: 6-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended before and after ASSIST. Additionally, the investigators will collect total number of hours per week spent in these activities.

Measure: Post-Secondary Youth Outcomes: Hours spent in activity

Time: 12-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended before and after ASSIST. Additionally, the investigators will collect total number of hours per week spent in these activities.

Measure: Post-Secondary Youth Outcomes: Hours spent in activity

Time: 24-month post-intervention

Description: Test whether parent participation in the ASSIST intervention leads to increase in post-secondary vocational and educational participation for youth with ASD. The Vocational Index (Taylor & Seltzer, 2012) will be used to gather information on employment and post-secondary educational programs that youth with ASD are attending / attended before and after ASSIST. Additionally, the investigators will collect total number of hours per week spent in these activities.

Measure: Post-Secondary Youth Outcomes: Hours spent in activity

Time: 30-month post-intervention

Description: Examine whether ASSIST participation increases the intervention target of parent advocacy activities, measured using the Advocacy Activities measure (Taylor, Hodapp, Burke, Waitz-Kudla, & Rabideau, 2017).The 16-item instrument measures how frequently parents spend time in advocacy activities for the son/daughter with ASD. The response options range from 1 = not at all to 4 = very often. The total score can range from 16 to 64, with higher scores indicating greater parent participation in advocacy activities.

Measure: Change in Advocacy Activities Scale

Time: Baseline to 30-month post-intervention

5 Clinical Evolution and Parenting in Children and Adolescents With Autism Spectrum Disorder or Attention Deficit Hyperactivity Disorder Quarantined Because of Covid-19 Outbreak

In response to the coronavirus disease 2019 (covid-19) outbreak, the home confinement of the population ordered by governments in many countries raise questions about its impact on individuals' physical and mental health in the short and longer term. In children, reduced physical activity, changes in lifestyle, disturbances in sleep patterns, lack of in-person contact with peers, poor or inadequate understanding of health risks may be risk factors of anxiety, stress, fatigue, sleep disorders (Brooks et al, 2020; Wang et al, 2020; Sprang et al, 2013). These problematic effects could be modulated by social factors (housing in urban or rural areas, availability of personal space at home, parenting stress, etc.) (Cluver et al, 2020; Liu et al, 2020).

NCT04416360 Autism Spectrum Disorder Attention-deficit Hyperactivity Disorder Other: Interview by psychologists
MeSH:Hyperkinesis Disease Autistic Disorder Attention Deficit Disorder with Hyperactivity Autism Spectrum Disorder Child Development Disorders, Pervasive
HPO:Attention deficit hyperactivity disorder Autism Autistic behavior Hyperactivity Hyperkinetic movements

Primary Outcomes

Description: composition, home confinement, change in the environment, personal room at home, screens with internet access, parents' current professional status, teleworking, care, family concerns related to Covid-19, parenting stress, schooling, recurrent complaints.

Measure: Interview of the parents : contextual data

Time: Baseline

Description: related to education; related to daily family life; related to leisure, related to care (children/adolescents, parents)

Measure: Interview of the children/adolescents/ parents : Experience of the confinement in general

Time: Baseline

Description: related to education; related to daily family life; related to leisure, related to care (children/adolescents, parents)

Measure: Interview of the children/adolescents/ parents : Experience of the confinement in general

Time: 1 month

Description: related to education; related to daily family life; related to leisure, related to care (children/adolescents, parents)

Measure: Interview of the children/adolescents/ parents : Experience of the confinement in general

Time: 3 months

Description: Data relating to disease and management of care. Experience of the referring caregiver.

Measure: Interview of the referring caregiver : data relating to disease and management of care

Time: 3 months

6 Brain Imaging and Infant Development

The aims of the BIBS Study The Brain Imaging in Babies study (BIBS) aims to improve understanding of how a baby's brain develops from before birth, up until 3-4 years of age. Working with children from a variety of backgrounds and communities, the investigators use a combination of state-of-the-art diagnostic tools such as MRI scans alongside traditional behavioural assessments to capture the earliest information on infant brain development. The focus of the BIBS study MRI scanning is a safe way of producing detailed images using strong magnetic fields and radio waves. It does not use X-ray. Along with learning more about brain development in general, the investigators also try to identify features that may in future help predict whether a child will or will not develop traits of conditions such as Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD). Long-term, this may help target useful interventions early on, helping children who are most in need. Since COVID-19 arrived in the United Kingdom (U.K.) in 2020, the investigators have been given ethical approval to include testing for this infection in the mothers and children participating in the study. This may provide an opportunity to better understand how mother and baby respond to infections. The investigators particularly welcome mothers who have had a positive COVID-19 test during their pregnancy to join the study.

NCT04443179 Autism Spectrum Disorder Attention Deficit Hyperactivity Disorder Neurodevelopmental Conditions COVID-19
MeSH:Disease Attention Deficit Disorder with Hyperactivity Autism Spectrum Disorder
HPO:Attention deficit hyperactivity disorder Autistic behavior

Primary Outcomes

Measure: Neurodevelopmental Outcomes

Time: 3-4 years of age

7 ASD (Autism Spectrum Disorder) Telehealth for Distress Related to COVID-19 (Coronavirus Disease)

The purpose of this study is to evaluate the feasibility, acceptability and effectiveness of a brief, telehealth intervention (the Emotional Support Plan), intended to support autistic adults to cope with their negative emotions during and/or after the COVID-19 pandemic. The first objective is to develop and refine a brief telehealth-delivered treatment, the Emotional Support Plan (ESP), to help promote adults to cope during periods of acute distress, such as those experienced during the COVID-19 pandemic. The second objective is to assess the feasibility and effectiveness of the ESP to support autistic adults to implement emotion regulation strategies during periods of acute distress. The last objective is to yield preliminary data to apply for extramural grants to validate these methods to monitor and support mental health of autistic adults during key transitions (e.g., starting college).

NCT04460677 Psychological Distress Stress, Psychological Autism Spectrum Disorder Behavioral: Emotional Support Plan Behavioral: Daily Monitoring
MeSH:Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive Stress, Psychological
HPO:Autism Autistic behavior

Primary Outcomes

Description: The PHQ-9, assessed weekly, is a 9-item questionnaire of psychological function over the past week with all items on a "0" (not at all) to "3" (nearly every day) scale. Higher scores equal more distress.

Measure: Decreased distress on Patient Health Questionnaire (PHQ-9)

Time: 8 week study period

Description: EMA (Ecological Momentary Assessment) reports of decreased distress (in ESP + daily monitoring group only). Higher scores on the item equal higher levels of distress.

Measure: Decreased distress on EMA reports

Time: 8 week study period

Description: The GAD-7, assessed weekly, is a 7-item questionnaire of anxiety symptoms over the past week with all items on a "0" (not at all) to "3" (nearly every day) scale. Higher scores equal more anxiety.

Measure: Decreased anxiety symptoms on the Generalized Anxiety Disorder Questionnaire (GAD-7)

Time: 8 week study period

Secondary Outcomes

Description: The ASR is a measure of adaptive functioning and psychopathology (e.g., anxiety, depression symptoms). Most of the items are on a 3 point scale including: (0) Not true, (1) Somewhat or sometimes true, and (2) Very often or often true.

Measure: Adult Self Report (ASR)

Time: 8 week study period

8 A Randomized, Investigator- /Subject-blind, Single- and Multiple-ascending Dose, Placebo-controlled Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 Following Oral Administration in Healthy Male Participants

This study will evaulate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of single- and multiple-ascending doses (SAD and MAD) and food effect (FE) of RO6953958 following oral administration in healthy male participants.

NCT04475848 Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive Mental Disorders Neurodevelopmental Disorders Drug: RO6953958 Drug: Placebo
MeSH:Disease Autism Spectrum Disorder Child Development Disorders, Pervasive Mental Disorders Autistic Disorder Neurodevelopmental Disorders Developmental Disabilities
HPO:Autism Autistic behavior

Primary Outcomes

Measure: Percentage of Participants with Adverse Events in Part 1

Time: From randomization up to 7 weeks (or up to 14 weeks if the participant is part of the food effect cohort)

Measure: Percentage of Participants with Adverse Events in Part 2

Time: From randomization up to 8 weeks

Measure: Part 2: Change in suicide risk assessed using the Columbia Suicide Severity Rating Scale (C-SSRS)

Time: From randomization up to 8 weeks

Secondary Outcomes

Measure: Part 1: Maximum Observed Plasma Concentration (Cmax) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1

Measure: Part 1: Time to Reach Maximum Observed Plasma Concentration (Tmax) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1

Measure: Part 1: Last Quantifiable Concentration (Clast) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Time To the Last Quantifiable Concentration (Tlast) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Terminal Elimination Phase Half-Life (T1/2) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Area Under the Concentration-Time Curve from Time 0 to 12 hours (AUC(0-12h)) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Area Under the Concentration-Time Curve From Time 0 to the Time of the Last Quantifiable Concentration (AUClast) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Area Under the Concentration-Time Curve from Time Extrapolated to Infinity (AUC (0-inf)) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Apparent Clearance (CL/F) of RO6953958 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Apparent Volume of Distribution (V/F) of RO6953958 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Cumulative Amount of Unchanged Drug Excreted into the Urine (Ae) of RO6953958 and its Metabolites RO7021594 and RO7045755 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Fraction of the Administered Drug Excreted into the Urine (Fe) of RO6953958 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Part 1: Renal Clearance of the Drug from Urine (CLR) of RO6953958 in Fasted and Fed state

Time: Day 1 to Day 5

Measure: Parts 2: Cmax of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 and Day 10

Measure: Parts 2: Molecular Weight Adjusted Metabolite-to-Parent Ratio for Cmax of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 and Day 10

Measure: Parts 2: Average Plasma Concentration (Cavg) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: Tmax of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 and Day 10

Measure: Part 2: Area Under the Concentration-Time Curve (AUC(0-t)) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: Molecular Weight Adjusted Metabolite-to-Parent Ratio for Area Under the Concentration-Time Curve (AUC(0-t)) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: T1/2 of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: CL/F of RO6953958

Time: Day 1 to Day 14

Measure: Part 2: V/F of RO6953958

Time: Day 1 to Day 14

Measure: Part 2: Ae of RO6953958

Time: Day 1 to Day 14

Measure: Part 2: Fe of RO6953958

Time: Day 1 to Day 14

Measure: Part 2: CLR of RO6953958

Time: Day 1 to Day 14

Measure: Part 2: Trough Plasma Concentration (Ctrough) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: Accumulation Ratio based on AUC (Rauc) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: Accumulation Ratio Based on Cmax (RCmax) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

Measure: Part 2: Accumulation Ratio based on Ctrough (RCtrough) of RO6953958 and its Metabolites RO7021594 and RO7045755

Time: Day 1 to Day 14

9 Parent Language Intervention for Autism

As a result of the COVID-19 pandemic, telecoaching/telepractice models are of urgent importance. Given this, parents in the study will receive parent coaching through weekly video calls. To help us understand the best types of telecoaching, we will offer all participants responsive coaching, with half of the participants receiving an additional opportunity to reflect on their own use of language strategies with a therapist using video feedback and the other half receiving responsive coaching as usual, without video feedback. This information is important in helping us to understand the best way to coach parents using a telepractice model so that parents implement the intervention at high fidelity. Furthermore, we will aim to understand how parent learning style may also influence the implementation of these strategies.

NCT04501588 Autism Spectrum Disorder Autism Behavioral: Responsive training with no video feedback Behavioral: Responsive training with video feedback
MeSH:Autistic Disord Autistic Disorder Autism Spectrum Disorder
HPO:Autism Autistic behavior

Primary Outcomes

Description: Mother use of intervention strategies will be measured by transcribing and coding mother behaviors during 12-minute parent-child interactions, using a standard set of toys. The primary dependent variable will be the amount of correct strategy used expressed as a percentage correct. This is the percentage of child communication to which the adult responds correctly (i.e., contingently and within 5 seconds).

Measure: Parent Use of Language Support Strategies (Mother-child interaction)

Time: Two months after the start of the study

Secondary Outcomes

Description: Parent report of child's expressive vocabulary and prelinguistic communication skills

Measure: MacArthur-Bates Communicative Development Inventory (MCDI) (Child)

Time: Two months after the start of the study


HPO Nodes


HP:0000729: Autistic behavior
Genes 557
SNX14 PPM1D NLGN4X PIGY CAMTA1 TMEM231 SLC6A8 LIMK1 SOX3 CHD2 GJA5 CLCN4 MICOS13 LMAN2L TSC2 STS KCNAB2 SLC13A5 ARID1B SCN8A ND2 NLGN4X TCF4 NUS1 CLP1 ELN CNKSR2 SCN1A DEPDC5 SLC1A2 PWAR1 NLGN3 GABRG2 ATRX ADSL MED13L UCHL1 CHD2 TMEM138 GNAQ ADGRV1 RAB39B TSC1 DPYD ALDH18A1 SCN8A ARHGEF6 TBX1 SYNJ1 CDKL5 DYRK1A WWOX CHRNA7 TRAK1 SH2B1 NDUFS3 NDUFV2 IREB2 WDR26 EP300 ARX SPECC1L IL1RAPL1 DLG4 SHANK3 CACNA1C GABRA2 NDUFB11 EGF SLC25A22 ZC3H14 CLIP1 MTOR USP7 PIGQ GATAD2B BCOR CTCF MECP2 CUX2 TIMMDC1 MAPT NDUFAF8 NDUFB10 CACNA1B ANK3 C12ORF4 AFF2 NTNG2 RAD21 MCTP2 DDX3X NALCN ARVCF FBXO31 FLCN VPS13C RPS6KA3 MBOAT7 MED25 MID2 GABRG2 RERE KDM6B NDN TBR1 STS CUX2 NDUFS6 FOXRED1 MBOAT7 TRAPPC9 SKI SDHC HNRNPH2 TBR1 MED13 TAF1 NDUFAF4 WFS1 MED23 EXT2 TSPAN7 TBX2 IL1RAPL1 JAM2 TMEM216 SRP54 NEXMIF SCN1B ASXL3 EEF1A2 MAGEL2 KCNB1 SMC1A GTF2IRD1 UFD1 STAG1 NDUFS8 NDUFAF3 SNORD115-1 PIGV TMEM126B MED12 TBC1D23 CACNA1A GAMT SH2B1 RARS1 RFC2 DMXL2 GABRG2 SLC9A6 NTRK2 PPP2R5D GRN CC2D2A MEIS2 NDUFAF3 FOXP1 EP300 CLTC IQSEC2 ALG13 FRMPD4 ANKRD11 EXTL3 SIN3A SNRPN CACNA2D2 FGFR1 CLIP2 GRIA3 COMT NECAP1 HESX1 HCN1 SZT2 OPHN1 PIGP NHS JMJD1C TCF20 GRIA3 AARS1 FRRS1L UBA5 NDUFS2 TMLHE NDUFV1 PRSS12 PCGF2 NLGN3 KDM5B MED13L DMPK AUTS2 HIRA CDKL5 AP3B2 IQSEC2 CARS2 SYT1 YWHAG PGAP1 SRY STAG2 NAA10 CREBBP OTUD6B CHD2 TRRAP GNAO1 MAN1B1 RAB11B TM4SF20 PRODH UGP2 SEC23B RSRC1 ASH1L PARS2 ZNF41 ST3GAL3 IQSEC1 CXORF56 RERE EHMT1 AKT1 PCDH19 CNNM2 KCNA2 GABRD ZNF711 ALMS1 SYNGAP1 DEAF1 NDUFAF2 SYP SCN9A POMT1 GJA8 GDI1 KCNA1 SETD5 SLC9A7 PCDH19 CDKL5 TBX1 HECW2 TUSC3 NDUFB3 POLA1 PWRN1 USP7 KMT2A AIMP1 AP1S2 PTEN SATB2 ST3GAL3 FGF12 RPL10 IQSEC2 DHDDS GPHN CLCN4 PDE4D AHDC1 EDC3 BCKDK SCN2A SLC35C1 HDAC4 CRBN SEC24C TCF4 NEUROD2 PAH HIVEP2 MECP2 IPW ARFGEF2 KCNA2 HCN1 SLC25A12 GATM NR2F1 SCN2A SON SYNGAP1 MED12 HDAC8 PGAP2 NDUFS7 SCN1B MEIS2 SDHD C9ORF72 DNM1 RSPRY1 SHANK3 PIK3CA DHCR7 NDUFAF5 PTCHD1 TMEM237 SCN3A STXBP1 CHD1 CRADD SIM1 ACTL6B FTSJ1 MAPK8IP3 CDH15 ALG11 KMT5B POLA1 UPF3B LINS1 SMG9 ND3 HERC1 GRIN1 LHX1 PIGL ATP6V1A SETD2 SYNJ1 NIPBL TUBB3 HCFC1 KCNT1 PRDM16 VAMP2 MEF2C NEUROD2 ATP1A3 FTSJ1 DYM SNCA TBCK MEF2C SCN9A CXORF56 AUTS2 INTS1 RREB1 SLC45A1 SEMA3E ADNP TSC2 NTRK2 HNF1B PODXL NPAP1 CHD7 SNX14 SCN2A NAGA RSPRY1 BCORL1 TCF12 SMC3 SLC25A1 ACOX1 AGTPBP1 NDUFS1 PIGP GABRA1 CASK CTNNB1 LRRK2 RERE YY1 PRKAR1A DCPS NRXN1 TAF1 CHD8 PSMD12 WFS1 ACADL PIGC MECP2 CNKSR2 AP2M1 SARS1 NAA10 PARK7 CC2D1A HTRA2 BAZ1B PROKR2 KMT2C ND1 CYFIP2 NDUFS4 UBE3A TREM2 NDP TRIM8 SOX2 MECP2 C12ORF4 FOXP2 HERC2 TLK2 AP3B2 GP1BB ARX REV3L UBTF NONO EZR STXBP1 VCP ZNF423 NDUFAF4 NUS1 ADNP MKRN3-AS1 MSTO1 PTCHD1 ACSL4 NSUN2 TNIK PINK1 TET3 SLC6A8 KLLN GRIN2D DNM1 PLXND1 CLCN4 CDK8 ZIC1 GRIK2 GTF2I IFNG EXT2 SLC6A1 USP27X FMN2 ALDH5A1 DHCR7 THOC2 PDE4D RORA POGZ NAGA COG5 ZBTB20 FMR1 NDUFA6 SH2B1 EHMT1 PIGO FMR1 RPS23 HCN1 ARV1 ALG13 AGTR2 PIGL PACS2 PUF60 SLC35A3 NDUFS4 FOXG1 HERC2 PAK3 SQSTM1 TWNK CEP290 STXBP1 MKRN3 NDUFA1 TBX1 TBC1D24 NDUFA11 SYN1 CNTNAP2 PRKN SIM1 SETD5 OTUD6B NEXMIF FRMPD4 PACS1 DPYD ARNT2 PNKP B3GALNT2 NDST1 SNORD116-1 DOCK7 NDUFAF1 PPP3CA DLG3 GFM1 GABRB2 PPP2CA PDE4D CNTNAP2 HNMT TSC1 TRIO KDM5C SIK1 METTL23 WASHC4 STX1B TBL2 OTX2 RNF135 SDHB CTCF ZFPM2 PIGW DMD TMEM106B SNRPN SLC35A3 GABRD DEAF1 PSEN1 GABRB3 USF3 SCN1A NDUFB9 NDUFA13 GABRA5 CHMP2B MAOA NAA15 TECR SCN1A SMAD4 MAN1B1 MAPK10 UBA5 USP9X RAI1 NFIB PTEN KPTN PGAP3 PIGG SCN1B SPATA5 ALG13 PUF60 ZNF81 DNAJC6 NUBPL
Protein Mutations 1
S1009A
SNP 1
rs6971