NCSA has submitted the following comments in response to the IACC call for public comments to inform the development of the 2021-2022 IACC Strategic Plan. IACC info here.
1. Priorities for screening and diagnosis
According to the CDC’s 2020 Community Report:
• Most children (85%) identified with ASD had concerns about their development noted in their records by 3 years of age.
• That said, fewer than half (42%) with ASD received a developmental evaluation by the age of three.
• 30% of children who met the ADDM Network surveillance case criteria for ASD had not received a formal ASD diagnosis by 8 years of age, potentially limiting the services they receive.
The fact that most children who were eventually diagnosed with autism did not receive an evaluation before their third birthday indicates a lack of urgency from referring physicians and/or a lack of access to qualified diagnosticians.
Accordingly, the IACC should:
• Directly address the lack of education specific to ASD provided to medical students, physicians, and other healthcare providers
• Work with the US Preventive Services Task Force to recognize the overwhelming evidence in support of ASD screening and to provide clarity in their currently ambitious position on autism screening
• Explore innovative ways to require timely screening and diagnosis for all children (examples include ECHO Autism and Cognoa)
• Continually work to educate the medical and autism communities that all marketplace health plans and most other private insurance plans must cover preventive services for children without charging a copayment or coinsurance. This includes autism screening for children at 18 and 24 months.
2. Priorities for the biology underlying ASD
Because autism is largely the result of abnormal development of the brain during the fetal and infant periods, resulting in lifelong micro-structural pathology and impaired connectivity and functionality, NCSA strongly supports research into the factors that lead to this dysregulated brain development. This research may shed a light on how to prevent the defects in neurogenesis, neural migration, synaptic connectivity, and pruning from occurring in the first place.
Since research has emphatically shown that the vast majority of autism cases are not rooted in DNA sequence errors, we stress the importance of studying *dysregulated transcription* in individuals with idiopathic autism (without rare mutations that lead to autism-like syndromes) via study of peripheral tissues, perhaps including IPSCs turned into neuron clusters. Detecting the origins of faulty transcription can illuminate how autism arises in the first place, and in so doing, highlight desperately needed routes for prevention.
Further research is also needed on perinatal stressors that may also contribute to impairments in brain development, such as prematurity, inflammation, and certain medications.
Studies aimed at reducing severity of debilitating co-occuring conditons such as seizures, OCD, anxiety and intellectual disability should also be a priority.
3. What causes ASD, and can disabling aspects of ASD be prevented
While autism is strongly heritable, studies consistently demonstrate that the DNA sequence only explains roughly 10-20% of cases, with most of that risk stemming from de novo mutations (calling into question a role for exogenous stressors), and not from ancestral factors. Further, genetic findings have failed to translate into any clinical benefit for patients, nor any approaches toward prevention. NCSA suggests that the NIH radically reduce funding of further research into DNA sequence.
Instead, the NIH should switch its emphasis to locating *non-genetic sources of the heritable risk for autism*, including but not limited to epigenetic/transcriptional damage to parental gametes. A key example is modern general anesthesia (GA) which can alter molecular programming of parental germ cells at brain-related genes. *Every animal study conducted to date on this topic has linked germline exposure to GA to adverse neurodevelopmental impacts in some offspring, predominantly in males.*
The Study to Explore Early Development (SEED), DoD-Army’s Autism Research Program (ARP) as well as the Center for Children’s Environmental Health (CCEH) at UC Davis should gather parental toxicant/medical procedure histories (including exposures to the parents when they were fetuses).
Similarly, we need research on the sperm of fathers, as pilot studies have already revealed epigenetic markers consistent with autism risk. Mammalian models can be used as proxies in studies of oocytes.
4. Priorities for treatments and Interventions
The failure of decades of research to result in meaningful treatments for ASD has been an overwhelming disappointment for individuals and families, whose loved ones are often suffering grievously with mental dysfunction, severe functional disability, aggression, self-injury, and destruction. No stone should be left unturned in the quest for autism therapeutics.
This should include:
• Potential underlying medical conditions
• Mainstream pharmaceuticals
• Cannabis-based products
• Sensory protocols
• TMS
• ECT, as a last resort for those whose co-occuring mental illness causes severe and dangerous behaviors
Additionally, research is needed on behavioral and developmental interventions, focusing on:
• Teens and adults with ASD
• Individualized approaches
• Objectives that are meaningful for people with severe autism such as safety, communication, and ADLs
The NIH should prioritize interventions for severe autism, and insist that any study on ASD provide clear information about the functioning levels of subjects.
Regarding communication, more research is needed on methods that promote independent communication such as AAC. On the other hand, unproven methods such as facilitated communication and its new variants remain un-validated by controlled testing. Dozens of studies have revealed the fraudulence of facilitated communication. We ask that research focus on methods that entail non-facilitated expression of thought.
5. Services and supports needed to maximize quality of life
For adults with severe autism, challenging behaviors and functional incapacity often results in low quality of life, immense financial costs, isolation and lack of access to programs, housing, community and work.
It is imperative that autism research prioritize identifying the following:
• Ways to improve behavioral therapies that assist children and adults in developing daily living skills and reducing dangerous behaviors
• Ways to improve access to public and private health insurance for behavioral supports and healthcare for adults
• Ways to improve access to crisis care, both inpatient and outpatient
• Ways to develop a medical field capable of serving the rapidly growing population of adults with severe autism
The IACC should also prioritize establishing best practice guidelines, particularly for providers of residential and day services for individuals with low verbal/cognition. This should include assessments of preferences in all areas of daily living including activities for meaningful engagement, food, sedentary or active lifestyle, and infusion of choice, competency, and control over their own lives.
6. Lifespan, adult Issues
Every day the NCSA sees a dire, escalating need for more options for adults with severe autism — including day programs, employment, housing, behavioral care, and medical care. Research is needed to help facilitate the full continuum of care, particularly for those with severe autism who have the least access to programs and housing, and should focus on the following:
• Ways to sustain and expand access to ICF-DDs as a critical part of the national safety net for the severely disabled
• Ways to target HUD housing subsidies for the severely disabled incapable of earning a living or caring for themselves
• Ways to properly implement HCBS person-centered care free of common myths about the settings rule that would unduly restrain options absent any true legal mandate
• Ways to dramatically improve support for family caregivers
• Ways to minimize neglect and abuse of adults with autism
7. Infrastructure and autism surveillance
Despite overwhelming evidence for a dramatic increase in autism across the US, this data is seldom analyzed for the pragmatic purpose to estimate future needs and costs to both families and society at large. Research is needed on the following:
• Birth year prevalence of autism over the past 30-40 years, in regions where such data is available (eg, California)
• Same, but broken down by rough level of functionality (eg, ID, no ID, or having severe or challenging behaviors)
• The CDC data is helpful but insuffient. A comprehensive review of birth-year-based autism data, beginning with birth year 1980, from all state and federal sources is desperately needed.
8. COVID-19 impact on the autism community
COVID-19 has proven to be particularly devastating for people with autism. The IACC should:
• Work with OSEP to create a clear definition of compensatory services that recognizes the unique educational loss that occurred for students with autism during the pandemic. This would include extending the age of eligibility for students who are aging out of IEP services. This also should provide additional time for children aging into IEP services from Early Intervention.
• Work with the CDC to specifically prioritize all people with autism for priority vaccination as research has indicated that the mortality rate is 3 times higher for them.
• Work to develop a model for increased funding for congregate settings, including residential facilities and day habilitation programs. This should include appropriate and specialized wage increases for direct service providers who serve those with severe autism.
9. Racial and ethnic minorities, economically disadvantaged communities, and rural populations
Access to meaningful autism screening, supports and services can depend on the characteristics and geographical location of the person with the diagnosis. The IACC should work to improve access by:
Funding research specific to telehealth for people across all functioning levels with ASD
• Working with CMS to ensure that:
—States are appropriately providing medically necessary care for children under the age of 21 as required by Medicaid’s EPSDT provision
—States finally begin paying direct service providers as well as healthcare workers who are providing either state plan or waiver services at a rate that reflects the level of care they provide for people with severe autism
—States are held accountable when they restrict access to individualized settings, including congregate care settings funded through HCBS and ICFs
• Working with OSEP to ensure that:
—Underperforming school districts are held accountable when FAPE is not provided to minority children
—Interpreter services are available for immigrant and non-English speaking people so they can navigate the special education system and participate in IEP meetings
—IDEA is enforced at all ages, but particularly for autistic students who are transition age; families should be aware that the entitlement does not end at age 18
—Data are made available that correctly reflect the number of students served with severe forms of autism and what their outcomes are