Frequently Asked Questions

The Autism Spectrum Program of Excellence (ASPE) study is allying with the neurodivergent community to improve the quality of life for autistic individuals and their families through research.  A fundamental principle of our work is that neurodiversity is valuable, and we firmly believe that there is a substantial need for ongoing efforts to enhance our comprehension of the distinct abilities of and supports needed by individuals on the autism spectrum. 

The ASPE study seeks to combine understanding of autism at a biological level with first-person and family member perspectives on the adult autistic experience (including experiences of common co-occurring conditions like anxiety and sleep problems). By using tools from psychology, genetics, clinical medicine, and neuroscience, the ASPE study hopes to get a comprehensive picture of the many different ways that autism can present across the lifespan, and ways that quality of life can be improved for those on the spectrum. ASPE is working to translate this research into improved treatments, services, and support programs that are consistent with priorities expressed by many in the neurodivergent community, as well as increased acceptance and advocacy

ASPE research involves the following: 

1. Recruiting adults on the autism spectrum and their family members to participate in the Study.
2. Recruiting individuals with variants in specific genes of interest and their family members to participate in the Study. 

• Answer questionnaires about your social interactions, repetitive behaviors, sensory sensitivities, anxiety, attention, thought patterns, and sleep-activity cycles. 

• Donate a saliva sample for genetic analysis. The goal of ASPE’s genetic analysis is to better understand the biological processes in autism and to increase the quality of life for autistic individuals. 

• You will have the option in the future to participate in other research aimed at providing better supports for navigating strong emotions and social interactions. 

The ASPE Advisory Board includes autistic self-advocates (including ASPE participants), family members and caregivers of individuals on the autism spectrum, as well as leading scientists and clinicians who focus their work on the autism spectrum. Notably, these identities are not mutually exclusive, and several advisory board members are connected to autism in multiple ways (e.g., autistic self-advocate and autism researcher; researcher and family member). ASPE researchers work toward being informed allies by proactively obtaining input from our Advisory Board and ASPE participants on how to carry out ethical research that benefits to the autism community. ASPE seeks to stay engaged with the autistic community by providing updates on our research progress through newsletters and symposia. 

For each participant, we collect genetic material through human saliva for whole genome sequencing. We are also administering questionnaires with questions ranging from family history, social functioning, executive functioning, anxiety, and depression. For a subset of individuals, we will invite family members to participate in the study by completing questionnaires and providing a saliva sample. While additional analysis may be done with direct collaborators, the identity of participants will remain anonymous. Our research provides a better understanding of the biology of autism, which will ultimately help us to develop more effective treatments and supports and improve quality of life for people on the autism spectrum.   

For more information regarding our research on the NEUREXIN1 gene (NRXN1), read more on our blog! 

A saliva sample is a common and convenient method for DNA collection compared to alternative, more invasive methods — such as blood samples or cheek swabs.  

Ensuring confidentiality is of the utmost importance to the ASPE team. To prevent unauthorized access to our participants’ personal information, all ASPE research data and records are stored electronically in a secure, encrypted, password-protected database. The research team does not enter the data collected in this study into participants’ medical records.   

To help us further protect your privacy, we have obtained a Certificate of Confidentiality from the National Institute of Health. Our research team can use this Certificate to legally refuse to disclose information that may identify you and link you to this research study.  

A federal law called the Genetic Information Non-Discrimination Act (GINA) helps reduce the risk from health insurance or employment discrimination. It is illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage. It is also illegal for employers to use genetic information when making decisions about hiring, promoting, and several other terms of employment. 

Genetic analysis is being done for research purposes, not for clinical purposes. Generally, genetic results will not be returned to participants. 

The ASPE Study is primarily recruiting individuals (probands) without intellectual disability (ID) who have an autism spectrum diagnosis, or a strongly suspected diagnosis (strongly expected by you or your clinician). We are also recruiting participants who do not have an autism diagnosis for a comparison group. The Study does not provide a formal clinical evaluation/diagnosis. 

We are currently recruiting a few subsets of participants:  

1. Individuals with an autism (or related) diagnosis without intellectual disability (ID)
2. Individuals with a NRXN1 gene deletion / copy number variant (with or without autism diagnosis) 
3. Family members of autistic and NRXN1 participants 
4. Individuals with no autism diagnosis as a comparison (control) group.

See below specifications to see if you may qualify for our study: 

Participants on the autism spectrum 

1. Age 18+
2. No lifetime history of intellectual disability
3. No history of psychosis, psychiatric hospitalization, suicidality, or substantial self -injurious behavior in the past 6 months
4. No neurological and/or other condition that impairs cognition (i.e., dementia, traumatic brain injury, etc.)

NRXN1 Participants 

1. Age 3+
2. Known NRXN1 deletion/copy number variant (2p16.3 deletion)
3. No history of psychosis, psychiatric hospitalization, suicidality, or substantial self -injurious behavior in the past 6 months
4. NRXN1 individuals can be enrolled with or without a diagnosis of autism and/or intellectual disability (ID).

Family Members of Autistic Participants and NRXN1 Participants 

1. Age 3+
2. No history of psychosis, psychiatric hospitalization, suicidality, or self -injurious behavior in the past 6 months
3. Family members can be enrolled with or without a diagnosis of autism and/or intellectual disability (ID). 

Control Group 

1. Age 3+
2. No lifetime history of diagnosis of autism or related disorders (Asperger’s Syndrome, Pervasive Developmental Disorder, Social Communication Disorder, etc.) and no lifetime history of intellectual disability.
3. No first degree relative (father, mother, sister, brother, child) with a diagnosis of autism or related disorders.
4. No history of psychosis, psychiatric hospitalization, suicidality, or self -injurious behavior in the past 6 months

Yes, you can participate regardless of where you live. However, it is important to be aware that our study is conducted in English. 

If you would like to have a clinical evaluation for a potential diagnosis of autism, we would suggest that you seek a referral to a physician (e.g. psychiatrist), psychologist, or autism clinical program with specialized expertise in diagnosis of autism.  Participation in the ASPE Study does not provide a formal clinical diagnostic assessment. 

If you would like to have a clinical evaluation to identify genetic variants or syndromes related to autism, we recommend that you consult with your healthcare provider about it and consider a clinical medical genetics evaluation that is outside of the ASPE Study.  Participants in ASPE will generally not receive genetic results from the study. 

The information collected during this study is for research purposes only, not for clinical purposes. At this time, ASPE cannot provide psychological test results in the form of reports. However, your participation could help us better understand autism and several associated conditions, which may benefit you indirectly in the future. 

Occasionally, participants may be asked if they would be willing to release collected data as a part of other research studies. This may enable participants to opt out of certain assessments that were recently administered elsewhere (for example, at the Center for Autism Research at the Children’s Hospital of Philadelphia). 

As long as you have a NRXN1 gene variant, you may still be eligible to participate in our study. This includes individuals with and without intellectual disability.

Yes, if you have a known NRXN1 gene variant, you do not need an autism (or related) diagnosis to be eligible. 

 Yes, even if you have no known symptoms as a result of the NRXN1 gene variant, you may be eligible to participate.