Autism As Early Neurodevelopmental Disorder: Evidence For An Sapp
- 1Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, USA
- 2Laboratory of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
- 3Institute of Psychiatric Research, Indiana University School of Medicine, Indianapolis, IN, USA
- 4Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA
- 5Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA
- 6Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA
What We Are Doing
Leveraging an innovative approach to research and novel technology to learn more about adults with autism spectrum disorder. We are collecting data where it matters most – at the point of care. And through our use of emerging technology, we are able to see our data and measure progress instantaneously, meaning immediate action and better outcomes for those we serve. We collect real-time and longitudinal data from patients at our Neuropsychiatry Program. Subjects participate in state-of-the-art assessments, and we also used data obtained from videotaping and wearable devices so we can get a truly holistic understanding of our patients. In addition, we take samples of DNA and blood so we can research any biological and genetic foundations of someone’s illness.
Review Articleconceptualising Compensation In Neurodevelopmental Disorders: Reflections From Autism Spectrum Disorder
Compensation may underpin improvements in symptoms in neurodevelopmental disorders.
The construct of compensation is poorly understood and has no agreed definition.
We derive a working definition and review evidence for compensation .
We propose a preliminary transdiagnostic framework of compensation.
We discuss potential neurocognitive mechanisms and research/clinical implications.
Signs In Girls Vs Boys
It is well documented that more boys than girls are diagnosed with ASD . Girls who do meet the diagnostic criteria for ASD during early childhood tend to have additional problems . This is not the case for boys .
One reason for the discrepancy in diagnosis may be that ASD traits “look different” in girls than in boys. A diagnostic bias toward characteristic ASD traits as they present in boys makes it easy to miss ASD traits as they present in girls . In addition, girls also tend to have fewer and less unusual repetitive stereotyped behaviors than boys .
The following are differences in the playground behaviors of girls and boys with ASD :
Girls with ASD
- stay in closer proximity to their peers and are better able to capitalize on social opportunity,
- spend more time in joint engagement,
- spend more time talking as a primary activity, and
- appear to use compensatory behaviors to gain access into peer groups .
Boys with ASD
- tend to play alone rather than participating in organized games,
- spend more time alone, and
- spend more time wandering as a primary activity.
A second explanation for the discrepancy in diagnosis might be that girls without additional problems are better able to cope with similar levels of ASD traits. They may mask their social challenges by using various compensatory behaviors .
Challenges Of Identifying High
High-functioning individuals with ASD pose particular challengesâboth for identification and for determining eligibility for services. These individuals often have either verbal or nonverbal intelligence within or above the average range and appear to succeed in some or most academic subjects, particularly in early school years. As a result, many are not diagnosed until later school age, adolescence, or even adulthood.
Long-term outcomes for these individuals show that challenges with social engagement and social communication can significantly affect their ability to adjust to social demands in later academic and community settings and in the workplace . These findings suggest the importance of providing intervention to address the gap between cognitive potential and social adaptive functioning.
Determining eligibility for educational services requires using a variety of strategies for gathering information, including
- standardized measures of social adaptive functioning,
- naturalistic observation across a range of settings, and
- caregiver/teacher interviews or questionnaires.
Regardless of the assessment measures or tools used, the clinician needs to be aware of any subtle signs and symptoms consistent with a diagnosis of ASD.
For a comprehensive discussion of individuals with ASD as they transition into and through adulthood, see IACC, 2017.
Consistent with the WHO framework, treatment is designed to
The Hypothesis Of A Genetic Neurodevelopmental Continuum
One can also explore whether the same genes or sets of functionally related genestend to be implicated across neurodevelopmental disorders, and this appears to bethe case. The same set of genes affected by loss of function de novo mutations areenriched in data from patients with ID, ASD, and schizophrenia.Functionally, rare de novo and rare damaging coding variants tend to cluster broadlyin similar biological processes, such as synaptic plasticity, chromatinmodification, and targets of fragile X mental retardation protein, indicating thatthe same pathogenic mechanism may be affected across disorders.,
How Is Asd Diagnosed
ASD symptoms can vary greatly from person to person depending on the severity of the disorder. Symptoms may even go unrecognized for young children who have mild ASD or less debilitating handicaps.
Autism spectrum disorder is diagnosed by clinicians based on symptoms, signs, and testing according to the Diagnostic and Statistical Manual of Mental Disorders-V, a guide created by the American Psychiatric Association used to diagnose mental disorders. Children should be screened for developmental delays during periodic checkups and specifically for autism at 18- and 24-month well-child visits.
Very early indicators that require evaluation by an expert include:
- no babbling or pointing by age 1
- no single words by age 16 months or two-word phrases by age 2
- no response to name
- excessive lining up of toys or objects
- no smiling or social responsiveness
Later indicators include:
- impaired ability to make friends with peers
- impaired ability to initiate or sustain a conversation with others
- absence or impairment of imaginative and social play
- repetitive or unusual use of language
- abnormally intense or focused interest
- preoccupation with certain objects or subjects
- inflexible adherence to specific routines or rituals
Benefits Of Early Accurate Diagnosis
An early, accurate diagnosis of ASD can help families and caregivers access appropriate services, provide a common language across interdisciplinary teams, and establish a framework to help families and caregivers understand the child’s difficulties. Any diagnosis of ASDâparticularly of young childrenâis periodically reviewed by members of the interdisciplinary team because diagnostic categories and conclusions may change as the child develops.
The identification of early behavioral indicators can help families and caregivers obtain appropriate diagnostic referrals and access early intervention services, even before a definitive diagnosis is made . Furthermore, early intervention can improve long-term outcomes for many children . A number of researchers have been reporting the benefits of providing intervention to at-risk infants that targets pre-linguistic communication .
What Is Autism Spectrum Disorder
Autism spectrum disorder refers to a group of complex neurodevelopment disorders characterized by repetitive and characteristic patterns of behavior and difficulties with social communication and interaction. The symptoms are present from early childhood and affect daily functioning.
The term spectrum refers to the wide range of symptoms, skills, and levels of disability in functioning that can occur in people with ASD. Some children and adults with ASD are fully able to perform all activities of daily living while others require substantial support to perform basic activities. The Diagnostic and Statistical Manual of Mental Disorders includes Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorders not otherwise specified as part of ASD rather than as separate disorders. A diagnosis of ASD includes an assessment of intellectual disability and language impairment.
ASD occurs in every racial and ethnic group, and across all socioeconomic levels. However, boys are significantly more likely to develop ASD than girls. The latest analysis from the Centers for Disease Control and Prevention estimates that 1 in 68 children has ASD.
Recent News And Events
USCAND Pilot Grants Awarded
USCAND has awarded two pilot grants to facilitate interdisciplinary research into neurodevelopmental disorders. Congratulations to Jessica Bradshaw, Amit Sheth, and Ugur Kursuncu and David Mott, Fiona Hollis, and Jessica Klusek !
What Role Do Genes Play
Twin and family studies strongly suggest that some people have a genetic predisposition to autism. Identical twin studies show that if one twin is affected, then the other will be affected between 36 to 95 percent of the time. There are a number of studies in progress to determine the specific genetic factors associated with the development of ASD. In families with one child with ASD, the risk of having a second child with the disorder also increases. Many of the genes found to be associated with autism are involved in the function of the chemical connections between brain neurons . Researchers are looking for clues about which genes contribute to increased susceptibility. In some cases, parents and other relatives of a child with ASD show mild impairments in social communication skills or engage in repetitive behaviors. Evidence also suggests that emotional disorders such as bipolar disorder and schizophrenia occur more frequently than average in the families of people with ASD.
How Common Is Autism Spectrum Disorder
Based on most recent CDC report, ASD is estimated to affect about 1 in 54 children, with boys being more likely to have ASD than girls. There were more than 5 million adults in the US, or 2.21% of the population, with ASD as of 2017. Government statistics suggest that the prevalence of ASD has risen 10% to 17% in recent years.
*new* Isand Clinician Updates
There are several recent and upcoming Clinician changes at ISAND that Id like to update you about. Id also like to inform you that you can read biographical information on all of our Clinicians by visiting the ISAND website www.isand.ca, and looking at the Team page under the about Us tab. For information on clinicians that have more recently become ISAND Team Members you can also read our Spring/Summer 2021 newsletter which can also be found on our website under the News and Events tab, Newsletter page.
Dr. Wendy Roberts, MD., FRCPC: Dr. Roberts is a developmental paediatrician, researcher, mentor and author specializing in the field of Autism Spectrum Disorder. As one of the founders of ISAND, Dr. Roberts has provided medical expertise to a huge number of clients over the years. Some of you may know that Dr. Roberts is stepping back from active medical consultation and treatment this June. Thankfully, Wendy will continue to provide mentoring and consultation to the Dr.s who will be taking over her case load for an undetermined length of time.
Recruitment efforts are underway to find a developmental paediatrician to join ISAND, and assume Dr. Roberts paediatric case load. Dr. Dara Abells will be assuming medical responsibility for some of the older clients on Wendys case load with transition meetings having started.
Speech and Language Services
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Treatment Considerations: Transitioning Youth And Adults
The core challenges associated with ASD can have an impact on the ability to succeed in postsecondary educational programs, employment, and social relationships, and to acquire the skills needed to live independently .
Individuals with ASD who are transitioning to young adulthood experience high rates of unemployment and underemployment and may have difficulty maintaining employment once secured . Socially, they may discontinue friendships, participate in fewer social activities , and experience social isolation .
These findings highlight the need for continued support to facilitate a successful transition to adulthood. SLPs are involved in transition planning in high school and may be involved, to varying degrees, in other support services beyond high school.
Transition planning for individuals with ASD may include
- determining the need for continued therapy, if appropriate;
- identifying career goals and educational needs;
- providing academic or career counseling;
- providing opportunities for work experience;
- discussing housing options; and
- facilitating community networking .
Effective transition planning involves the student as an active and respected member of the team as well as their family, who can provide valuable information about the student’s needs. See ASHA’s resource on transitioning youth.
Treatment Modes And Modalities
Treatment modes and modalities are technologies or other support systems that the SLP can use in conjunction with, or during implementation of, various treatments. For example, the SLP can use video-based instruction in peer-mediated interventions to address social skills and other target behaviors.
A number of treatment modes and modalities are described below. When selecting a mode or modality, the SLP considers the intervention goal and the individual’s developmental stage. For example, a mode or modality that is appropriate for an individual who is at the emerging language stage may not be appropriate for an individual who is at the prelinguistic stage. The list below is not exhaustive, and inclusion does not imply an endorsement from ASHA.
Augmentative and Alternative Communication
An AAC system is an integrated group of componentsâincluding symbols, selection techniques, and strategiesâused to enhance communication. AAC uses a variety of techniques and toolsâincluding picture communication systems, line drawings, photographs, video clips, speech-generating devices , tangible objects, manual signs, gestures, and finger spellingâto help the individual express thoughts, ideas, wants, needs, and feelings. AAC can be used to supplement existing expressive verbal communication or with individuals who are unsuccessful at learning expressive verbal communication.
Activity Schedule and Visual Supports
The Unifying Epigenetic Learn Model In Autism
Amyloid- precursor proteins role in FMRP, ERK, and mTOR pathways is consistent with an overall, pro-growth, anti-apoptotic role for APP. In a situation of nerve growth factor withdrawal, A production is upregulated, leading to neuronal apoptosis . In this way, APP activates both trophic and apoptotic pathways, and the predominance of one may determine pathology: autism vs. AD. The finding that the same gene can promote anabolism and catabolism is reminiscent of FMRPs role in FXS and Fragile X-associated tremor/ataxia syndrome found in subsets of older adults harboring FMR1 premutations . FXTAS is a condition of progressive tremor and ataxia in individuals who show no pre-morbid cognitive deficits, developing over the age of 50. Dementia occurs in a subset of those with FXTAS. It is believed that FXS is caused by FMRP loss of function, and FXTAS is caused by an FMR1 mRNA gain of function toxicity . In the case of APP, loss of function would favor the amyloidogenic pathway leading to AD while gain of function toxicity would favor the non-amyloidogenic pathway leading to excessive ADAM17, sAPP, and brain overgrowth associated with autism.
Are Siblings At Greater Risk For Autism Spectrum Disorder
The truth is that genetics do play a role in autism. When one child is diagnosed with ASD, the next child to come along has about a 20% greater risk of developing autism than normal. When the first two children in a family have both been diagnosed with ASD, the third child has about a 32% greater risk of developing ASD.
About Autism Spectrum Disorder
Autism Spectrum Disorder is characterized by persistent deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests or activities. Symptoms are present early in development, often noticed within the first two years of life, and impact the individuals social, occupational and/or other important areas of daily life. Scientists do not know the exact causes of ASD, but research suggests that both genes and environment play important roles.
Prior to 2013, Autism fell under the classification of pervasive developmental disorder and was divided into five sub-categories: Autistic Disorder, Asperger’s Disorder, Rett’s Disorder, Childhood Disintegrative Disorder, and Pervasive Developmental Disorder Not Otherwise Specified. With the most recent update of the American Psychiatric Associations Diagnostic and Statistical Manual of Mental Disorders , the disorder was reclassified into a single diagnostic category of Autism Spectrum Disorder. This change was made based upon years of clinical practice and research and reflects the wide range of skills and symptoms demonstrated by individuals with autism.
Individuals diagnosed with ASD often have problems with social, emotional and communication skills. They might repeat certain behaviors and might not want change in their daily activities. Many people with ASD also have different ways of learning, paying attention or reacting to things. Children and adults with ASD might:
App In Early Brain Development
APP is a large glycoprotein produced in brain microglia, astrocytes, oligodendrocytes, and neurons . It has a large extracytoplasmic domain, a membrane-spanning domain containing the A-peptide, and a short intracytoplasmic domain . Mature APP is axonally transported and can be secreted from axon terminals in response to synaptic activation where it may play a role in neuronal maturation and synaptogenesis .
Proliferation, migration, differentiation, myelination, and synaptogenesis are all steps involved in generation of a mature neuron. Some of the known functions of APP in these processes include promotion of proliferation, cellcell adhesion , migration , and synaptogenesis . More to the point, sAPP has specific activity in inducing cellular proliferation , including neural progenitor cells . sAPP facilitates substrate adhesion in cell culture . Induction of neuroprogenitor migration by sAPP may be due to sAPP upregulation of CC chemokine levels . sAPP induces synaptogenesis in response to increases in ADAM10 levels .
What Is The Difference Between Autism And Autism Spectrum Disorder
The term autism was changed to autism spectrum disorder in 2013 by the American Psychiatric Association. ASD is now an umbrella term that covers the following conditions:
- Autistic disorder.
- Pervasive developmental disorder not otherwise specified .
- Asperger syndrome.
People with ASD have trouble with social interactions and with interpreting and using non-verbal and verbal communication in social contexts. Individuals with ASD may also have the following difficulties:
- Inflexible interests.
- Insistence on sameness in environment or routine.
- Repetitive motor and sensory behaviors, like flapping arms or rocking.
- Increased or decreased reactions to sensory stimuli.
How well someone with ASD can function in day-to-day life depends on the severity of their symptoms. Given that autism varies widely in severity and everyday impairment, the symptoms of some people arent always easily recognized.
What Causes Autism Spectrum Disorder
There is no clear-cut cause of ASD. Some causes that are supported by research include genetic and some environmental factors. Specific genetic causes can only be identified in 10% to 20% of cases. These cases include specific genetic syndromes associated with ASD and rare changes in the genetic code.
Risk factors include older parental age, low birth weight, prematurity and maternal use of valproic acid or thalidomide during pregnancy, among others. This field of study is an active one for reasearch.
Causes And Risk Factors
We do not know all of the causes of ASD. However, we have learned that there are likely many causes for multiple types of ASD. There may be many different factors that make a child more likely to have an ASD, including environmental, biologic and genetic factors.
- Most scientists agree that genes are one of the risk factors that can make a person more likely to develop ASD.4, 19
- Children who have a sibling with ASD are at a higher risk of also having ASD. 5-10
- Individuals with certain genetic or chromosomal conditions, such as fragile X syndrome or tuberous sclerosis, can have a greater chance of having ASD. 11-14, 20
- When taken during pregnancy, the prescription drugs valproic acid and thalidomide have been linked with a higher risk of ASD.15-16
- There is some evidence that the critical period for developing ASD occurs before, during, and immediately after birth.
- Children born to older parents are at greater risk for having ASD.
ASD continues to be an important public health concern. Like the many families living with ASD, CDC wants to find out what causes the disorder. Understanding the factors that make a person more likely to develop ASD will help us learn more about the causes. We are currently working on one of the largest U.S. studies to date, called Study to Explore Early Development . SEED is looking at many possible risk factors for ASD, including genetic, environmental, pregnancy, and behavioral factors.
A Research Network Striving To Understand The Biology Underpinning Neurodevelopmental Disorders
The POND Network is a research network striving to understand the biology underpinning neurodevelopmental disorders to improve diagnosis, care and long-term outcomes for children. Neurodevelopmental disorders studied in the POND Network include Autism Spectrum Disorder , Attention Deficit/Hyperactive Disorder , Obsessive Compulsive Disorder , Tourette syndrome, Rett syndrome, Down Syndrome, Fragile X syndrome or any genetic differences associated with neurodevelopmental disorders.
How Is Autism Treated
There is no cure for ASD. Therapies and behavioral interventions are designed to remedy specific symptoms and can substantially improve those symptoms. The ideal treatment plan coordinates therapies and interventions that meet the specific needs of the individual. Most health care professionals agree that the earlier the intervention, the better.
Educational/behavioral interventions: Early behavioral/educational interventions have been very successful in many children with ASD. In these interventions therapists use highly structured and intensive skill-oriented training sessions to help children develop social and language skills, such as applied behavioral analysis, which encourages positive behaviors and discourages negative ones. In addition, family counseling for the parents and siblings of children with ASD often helps families cope with the particular challenges of living with a child with ASD.
The Origin Of The Concept Of Neurodevelopmental Disorder
Developmental disorders were included for the first time inDSM-III,for the category that comprised autistic disorder. Neurodevelopmental disorders were introduced as an overarching disorder category inDSM5.This new section replaced a previous chapter that was termed Disorders usuallyfirst diagnosed in infancy, childhood, or adolescence. InICD11, the latest revision of the International Classification of Diseases published bythe WHO, NDDs gained even more prominence by becoming an integral part of the titleof the chapter on psychiatry: Mental, behavioral or neurodevelopmental disorders.Figure 1outlines the main categories comprising neurodevelopmental disorders inDSM-5, their historical background, and the hypothesis of the genetic spectrum ofneurodevelopmental disorders that will be discussed later in this article.
Main categories comprising neurodevelopmental disorders in DSM-5, their historical background, and the hypothesis of the genetic spectrum ofneurodevelopmental disorders.
Do Symptoms Of Autism Change Over Time
For many children, symptoms improve with age and behavioral treatment. During adolescence, some children with ASD may become depressed or experience behavioral problems, and their treatment may need some modification as they transition to adulthood. People with ASD usually continue to need services and supports as they get older, but depending on severity of the disorder, people with ASD may be able to work successfully and live independently or within a supportive environment.
Shaping The Next Generation Of Ndd Leaders
Childrens Health is one of eight centers nationally that actively recruits and trains neurologists to be specialists in neurodevelopmental disorders. Our NDD residency is an intensive six-year program thats designed to train medical doctors to care for patients and do research that will improve our understanding of these disorders and their treatment.
The Center For Autism & Neurodevelopmental Disorders
UC Irvine Health- Department of Pediatrics
Providing Help and HopeThe Center for Autism is home to a team of experts in the field of autism and neurodevelopmental disorders.
Our MissionProviding help and hope to children, adolescents, young adults, and their families living with an autism spectrum disorder, ADHD, and other neurodevelopmental disorders through excellent and innovative clinical care, education & training, research, and community engagement.
Our ImpactThe Center for Autism & Neurodevelopmental Disorders serves Southern California’s diverse population. In the past year, we helped over 3,000 families through over 18,000 visits. Nearly half of these families relied on Medicaid/CalOptima and one-third were non-English speaking. Current diagnostic rates of autism spectrum disorder as reported by the Center for Disease Control is 1/59. Our goal is to ease this burden by expanding the clinical services offered at The Center, by building capacity in our community through professional training and to better understand autism spectrum through our ground-breaking research.
Our VisionTo be the local and national leader in creating opportunities and removing all barriers toward a fulfilled life for people with autism spectrum and other neurodevelopmental disorders.