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  • v.9(Suppl 1); 2020 Feb

Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation

Holly hodges.

1 Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children’s Hospital, Houston, TX, USA;

Casey Fealko

2 Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA;

Neelkamal Soares

3 Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. There have been recent concerns about increased prevalence, and this article seeks to elaborate on factors that may influence prevalence rates, including recent changes to the diagnostic criteria. The authors review evidence that ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain, and enumerate factors that correlate with ASD risk. Finally, the article describes how clinical evaluation begins with developmental screening, followed by referral for a definitive diagnosis, and provides guidance on screening for comorbid conditions.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors ( 1 ). In 2013, the Diagnostic and Statistical Manual of Mental Disorders —5 th edition (DSM-5) was published, updating the diagnostic criteria for ASD from the previous 4 th edition (DSM-IV) ( Table 1 ) ( 1 , 2 ).

ASD, autism spectrum disorder; SPCD, social (pragmatic) communication disorder.

In DSM-5, the concept of a “spectrum” ASD diagnosis was created, combining the DSM-IV’s separate pervasive developmental disorder (PDD) diagnoses: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS), into one. Rett syndrome is no longer included under ASD in DSM-5 as it is considered a discrete neurological disorder. A separate social (pragmatic) communication disorder (SPCD) was established for those with disabilities in social communication, but lacking repetitive, restricted behaviors. Additionally, severity level descriptors were added to help categorize the level of support needed by an individual with ASD.

This new definition is intended to be more accurate and works toward diagnosing ASD at an earlier age ( 3 ). However, studies estimating the potential impact of moving from the DSM-IV to the DSM-5 have predicted a decrease in ASD prevalence ( 4 , 5 ) and there has been concern that children with a previous PDD-NOS diagnosis would not meet criteria for ASD diagnosis ( 5 - 7 ). There are varying reports estimating the extent of and effects of this change. One study found that with parental report of ASD symptoms alone, the DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses ( 8 ). However, a systematic review suggests only 50% to 75% of individuals maintain diagnoses ( 9 ) and other studies have also suggested a decreased rate of diagnosis of individuals with ASD under the DSM-5 criteria ( 10 ). Often those who did not meet the requirements were previously classified as high functioning Asperger’s syndrome and PDD-NOS ( 11 , 12 ). Overall, most studies suggest that the DSM-5 provides increased specificity and decreased sensitivity compared to the DSM-IV ( 5 , 13 ); so while those diagnosed with ASD are more likely to have the condition, there is a higher number of children whose ASD diagnosis is missed, particularly older children, adolescents, adults, or those with a former diagnosis of Asperger’s disorder or PDD-NOS ( 14 ). Nevertheless, the number of people who would be diagnosed under the DSM-IV, but not under the new DSM-5 appears to be declining over time, likely due to increased awareness and better documentation of behaviors ( 4 ).

It has yet to be determined how the new diagnosis of SPCD will impact the prevalence of ASD. One study found the new SPCD diagnosis encompasses those individuals who possess subthreshold autistic traits and do not qualify for a diagnosis of ASD, but who still have substantial needs ( 15 ). Furthermore, children who previously met criteria for PDD-NOS under the DSM-IV might now be diagnosed with SPCD.

Epidemiology

The World Health Organization (WHO) estimates the international prevalence of ASD at 0.76%; however, this only accounts for approximately 16% of the global child population ( 16 ). The Centers for Disease Control and Prevention (CDC) estimates about 1.68% of United States (US) children aged 8 years (or 1 in 59 children) are diagnosed with ASD ( 6 , 17 ). In the US, parent-reported ASD diagnoses in 2016 averaged slightly higher at 2.5% ( 18 ). The prevalence of ASD in the US more than doubled between 2000–2002 and 2010–2012 according to Autism and Developmental Disabilities Monitoring Network (ADDM) estimates ( 6 ). Although it may be too early to comment on trends, in the US, the prevalence of ASD has appeared to stabilize with no statistically significant increase from 2014 to 2016 ( 19 ). Changing diagnostic criteria may impact prevalence and the full impact of the DSM-5 diagnostic criteria has yet to be seen ( 17 ).

Insurance mandates requiring commercial plans to cover services for ASD along with improved awareness have likely contributed to the increase in ASD prevalence estimates as well as the increased diagnosis of milder cases of ASD in the US ( 6 , 20 , 21 ). While there was only a modest increase in prevalence immediately after the mandates, there have been additional increases later as health care professionals better understood the regulatory and reimbursement process. The increase in prevalence may also be due to changes in reporting practices. One study in Denmark found the majority of increase in ASD prevalence from 1980–1991 was based on changes of diagnostic criteria and inclusion of outpatient data, rather than a true increase in ASD prevalence ( 21 ).

ASD occurs in all racial, ethnic, and socioeconomic groups, but its diagnosis is far from uniform across these groups. Caucasian children are consistently identified with ASD more often than black or Hispanic children ( 6 ). While the differences appear to be decreasing, the continued discrepancy may be due to stigma, lack of access to healthcare services, and a patient’s primary language being one other than English.

ASD is more common in males ( 22 , 23 ) but in a recent meta-analysis ( 24 ), true male-to-female ratio is closer to 3:1 than the previously reported 4:1, though this study was not done using the DSM-5 criteria. This study also suggested that girls who meet criteria for ASD are at higher risk of not receiving a clinical diagnosis. The female autism phenotype may play a role in girls being misdiagnosed, diagnosed later, or overlooked. Not only are females less likely to present with overt symptoms, they are more likely to mask their social deficits through a process called “camouflaging”, further hindering a timely diagnosis ( 25 ). Likewise, gender biases and stereotypes of ASD as a male disorder could also hamper diagnoses in girls ( 26 ).

Several genetic diagnoses have an increased rate of co-occurring ASD compared to the average population, including fragile X, tuberous sclerosis, Down syndrome, Rett syndrome, among others; however, these known genetic disorders account for a very small amount of overall ASD cases ( 27 - 30 ). Studies of children with sex chromosome aneuploidy describe a specific social functioning profile in males that suggests more vulnerability to autism ( 22 , 23 , 31 , 32 ). With the increased use of chromosomal microarray, several sites (chromosome X, 2, 3, 7, 15, 16, 17, and 22 in particular) have proven to be associated with increased ASD risk ( 28 ).

Other risk factors for ASD include increased parental age and prematurity ( 33 - 35 ). This could be due to the theory that older gametes have a higher probability of carrying mutations which could result in additional obstetrical complications, including prematurity ( 36 ).

ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain. Ongoing research continues to deepen our understanding of potential etiologic mechanisms in ASD, but currently no single unifying cause has been elucidated.

Neuropathologic studies are limited, but have revealed differences in cerebellar architecture and connectivity, limbic system abnormalities, and frontal and temporal lobe cortical alterations, along with other subtle malformations ( 28 , 37 , 38 ). A small explorative study of neocortical architecture from young children revealed focal disruption of cortical laminar architecture in the majority of subjects, suggesting problems with cortical layer formation and neuronal differentiation ( 39 ). Brain overgrowth both in terms of cortical size and additionally in terms of increased extra-axial fluid have been described in children with ASD and are areas of ongoing study both in terms of furthering our understanding of its etiology, but also as a potential biomarker ( 40 , 41 ).

Genetic factors play a role in ASD susceptibility, with siblings of patients with ASD carrying an increased risk of diagnosis when compared to population norms, and a much higher, although not absolute, concordance of autism diagnosis in monozygotic twins ( 42 - 44 ).

Genome wide association studies and whole exome sequencing methods have broadened our understanding of ASD susceptibility genes, and learning more regarding the function of these genes can shed light on potential biologic mechanisms ( 45 ). For example candidate genes in ASD include those that play a role in brain development or neurotransmitter function, or genes that affect neuronal excitability ( 46 , 47 ). Many of the genetic defects associated with ASD encode proteins that are relevant at the neuronal synapse or that are involved in activity-dependent changes in neurons, including regulatory proteins such as transcription factors ( 42 , 48 ). Potential “networks” of ASD genetic risk convergence include pathways involved in neurotransmission and neuroinflammation ( 49 ). Transcriptional and splicing dysregulation or alterations in epigenetic mechanisms such as DNA methylation or histone acetylation and modification may play a role ( 42 , 49 - 51 ). A recent study describes 16 newly identified genes associated with ASD that raise new potential mechanisms including cellular cytoskeletal structure and ion transport ( 52 ). Ultimately, ASD remains one of the most genetically heterogeneous neuropsychiatric disorders with rarer de novo and inherited variants in over 700 genes ( 53 ).

While genetics clearly play a role in ASD’s etiology, phenotypic expression of genetic susceptibility remains extremely variable within ASD ( 54 ). Genetic risk may be modulated by prenatal, perinatal, and postnatal environmental factors in some patients ( 35 ). Prenatal exposure to thalidomide and valproic acid have been reported to increase risk, while studies suggest that prenatal supplements of folic acid in patients exposed to antiepileptic drugs may reduce risk ( 55 - 57 ). Research has not confirmed if a small positive trial of folinic acid in autism can be used to recommend supplementation more broadly ( 58 ). Advanced maternal and paternal age have both been shown to have an increased risk of having a child with ASD ( 59 ). Maternal history of autoimmune disease, such as diabetes, thyroid disease, or psoriasis has been postulated, but study results remain mixed ( 60 , 61 ). Maternal infection or immune activation during pregnancy is another area of interest and may be a potential risk factor according to recent investigations ( 62 - 65 ). Both shorter and longer inter-pregnancy intervals have also been reported to increase ASD risk ( 66 ). Infants born prematurely have been demonstrated to carry a higher risk for ASD in addition to other neurodevelopmental disorders ( 34 ). In a prior epidemiologic review, obstetric factors including uterine bleeding, caesarian delivery, low birthweight, preterm delivery, and low Apgar scores were reported to be the few factors more consistently associated with autism ( 67 ). A recent meta-analysis reported several pre, peri and postnatal risk factors that resulted in an elevated relative risk of ASD in offspring ( 35 ), but also revealed significant heterogeneity, resulting in an inability to make true determination regarding the importance of these factors.

Despite the hysteria surrounding the now retracted Lancet article first published in 1998, there is no evidence that vaccines, thimerosal, or mercury is associated with ASD ( 68 - 70 ). In the largest single study to date, there was not an increased risk after measles/mumps/rubella (MMR) vaccination in a nationwide cohort study of Danish children ( 70 ).

Ultimately, research continues to reveal factors that correlate with ASD risk, but no causal determinations have been made. This leaves much room for discovery with investigators continuing to elucidate new variants conveying genetic risk, or new environmental correlates that require further study ( 52 ).

Evaluation in ASD begins with screening of the general pediatric population to identify children at-risk or demonstrating signs suggestive of ASD, following which a diagnostic evaluation is recommended. The American Academy of Pediatrics (AAP) guidelines recommend developmental surveillance at 9, 15 and 30 months well child visits and autism specific screening at 18 months and again at 24 or 30 months ( 28 , 71 ). Early red flags for ASD include poor eye contact, poor response to name, lack of showing and sharing, no gesturing by 12 months, and loss of language or social skills. Screening tools for ASD in this population include the Modified Checklist for Autism in Toddlers, Revised, with Follow-up (M-CHAT-R/F) and Survey of Wellbeing of Young Children (SWYC) ( 72 , 73 ). Red flags in preschoolers may include limited pretend play, odd or intensely focused interests, and rigidity. School age children may demonstrate concrete or literal thinking, have trouble understanding emotions, and may even show an interest in peers but lack conversational skills or appropriate social approach. If there is suspicion of ASD in these groups, screening tools available include the Social Communication Questionnaire (SCQ), Social Responsiveness Scale (SRS), and Autism Spectrum Screening Questionnaire (ASSQ) ( 74 - 76 ).

If concerns are raised at screening, primary care clinicians are recommended to refer the child to early intervention if less than 3 years of age or to the public school system for psychoeducational evaluation in order to establish an individual education program (IEP) if the child is three years of age or older. Clinicians should additionally refer the child to a specialist (pediatric neurologist, developmental-behavioral pediatrician, child psychiatrist, licensed child psychologist) for a definitive diagnosis and comprehensive assessment ( 71 ). A comprehensive assessment should include a complete physical exam, including assessment for dysmorphic features, a full neurologic examination with head circumference, and a Wood’s lamp examination of the skin. A parent interview, collection of any outside informant observations, and a direct clinician observation of the child’s current cognitive, language, and adaptive functioning by a clinician experienced with ASD should be components of this comprehensive assessment. ( 28 , 71 , 77 , 78 ).

Additionally, primary care clinicians need to be aware of (and evaluate for) potential co-occurring conditions in children with ASD. According to a surveillance study of over 2,000 children with ASD, 83% had an additional developmental diagnosis, 10% had at least one psychiatric diagnosis, and 16% at least one neurologic diagnosis ( 79 ). In the past, rates of co-morbid intellectual disability (ID) in patients with ASD were reported from 50% to 70%, with the most recent CDC estimate reported at 31.0% (26.7% to 39.4%) with ID defined as intelligence quotient (IQ) ≤70 ( 6 , 80 ). Other common co-occurring medical conditions include gastrointestinal (GI) disorders, including dietary restrictions and food selectivity, sleep disorders, obesity, and seizures ( 81 - 84 ). Studies using electronic health record (EHR) analysis revealed prevalence of epilepsy ~20% and GI disorders [without inflammatory bowel disease (IBD)] at 10–12% ( 82 ). Epilepsy has been shown to have higher prevalence rates in ASD with comorbid ID and medical disorders of increased risk such as tuberous sclerosis complex (TSC) ( 85 - 87 ). GI disorders or GI symptomatology, including diarrhea, constipation, restrictive eating, or reflux, have been shown to be prominent in ASD across multiple studies ( 81 , 82 , 88 , 89 ). Sleep problems have been reported to occur in anywhere from 50% to 73% of patients with ASD with variation in prevalence dependent on the definition of sleep symptoms or the measurement tool used ( 90 - 92 ). Rates of overweight and obesity in ASD are reported to be roughly 33% and 18% respectively, higher than rates in typically developing children ( 81 - 84 , 93 ).

Other behavioral or psychiatric co-occurring conditions in ASD include anxiety, attention deficit/hyperactivity disorder (ADHD), obsessive compulsive disorder, and mood disorders or other disruptive behavior disorders ( 81 ). Rates of co-occurring ADHD are reported anywhere from 25% to 81% ( 81 , 94 ). A recent meta-analysis of 30 studies measuring rates of anxiety and 29 studies measuring rates of depression reported a high degree of heterogeneity from the current literature, but stated pooled lifetime prevalence for adults with ASD to be 42% for any anxiety disorder and 37% for any depressive disorder, though the use of self-report measures and the presence of ID could influence estimates ( 95 ). In children with ASD seeking treatment, the rate of any anxiety disorder was found to be similar at 42% and in addition this study reported co-morbid oppositional defiant disorder at a rate of 46% and mood disorders at 8%, with 66% of the sample of over 600 patients having more than one co-occurring condition ( 94 ).

Currently no clear ASD biomarkers or diagnostic measures exist, and the diagnosis is made based on fulfillment of descriptive criteria. In light of a relatively high yield in patients with ASD, clinical genetic testing is recommended and can provide information regarding medical interventions or work up that might be necessary and help with family planning ( 96 ). The American College of Medical Genetics and Genomics (ACMGG) guidelines currently recommend chromosomal microarray for all children, fragile X testing in males, and additional gene sequencing, including PTEN and MECP2 , in certain patients as first tier genetic testing in the work up of ASD ( 97 ). High resolution G-banded karyotype, once recommended for all patients with ASD, is no longer routinely indicated based on recent consensus recommendations, but might still be performed in patients with a family or reproductive history suggestive of chromosomal rearrangements or specific syndromes such as sex chromosome anomalies or Trisomy 21 ( 96 - 98 ). Several professional societies recommend genetic testing for ASD, including the American Academy of Neurology, the AAP, ACMGG, and the American Academy of Child and Adolescent Psychiatry, and a child may require further referral to a geneticist and/or genetic counselor, depending on results of testing ( 25 , 28 , 97 , 99 ). As the field of genetics continues to advance rapidly, recent publications suggest whole exome sequencing may become the preferred method for clinical genetic testing in individuals with ASD ( 100 , 101 ).

Aside from genetic testing, no other laboratory work up is routinely recommended for every patient with a diagnosis of ASD. However, further evaluation may be appropriate for patients with particular findings or risk factors. Metabolic work-up should be considered in patients with any of the following concerning symptoms or signs: a history of clear developmental regression including loss or plateau of motor skills; hypotonia; recurrent episodes of vomiting, lethargy or hypoglycemia; microcephaly or poor growth; concern for other organ involvement; coarse features; or concern for seizures or ataxia. Based on the patient’s history and presentation, components of a metabolic laboratory evaluation could include complete blood count (CBC), liver and renal function tests, lactate, pyruvate, carnitine, amino acids, an acylcarnitine profile, urine organic acids and/or urine glycosaminoglycans ( 97 , 102 ). Children with a history of pica should have a lead level measured ( 28 , 103 ). In a child with significantly restricted food intake, one should consider a laboratory evaluation of nutritional status. Sleep symptoms may warrant a referral for a possible sleep study, and if restless sleep symptoms are present, an evaluation for iron deficiency is not unreasonable, particularly if dietary rigidity limits iron intake ( 104 ).

Neuroimaging is not routinely recommended for every patient with ASD ( 28 , 99 ), but may be appropriate in patients with a suspicion for TSC or other neurocutaneous disorders, microcephaly, or an abnormal neurologic exam (spasticity, severe hypotonia, unilateral findings). Patients with suspected seizures should have an electroencephalography (EEG) obtained ( 102 ). If accessible, it might be appropriate to immediately refer children with concern for further genetic, metabolic or neurologic conditions to a specialist who can then obtain and interpret the aforementioned testing. At this time there is inadequate evidence to recommend routine testing for celiac disease, immunologic or neurochemical markers, mitochondrial disorders, allergy testing, hair analysis, intestinal permeability studies, erythrocyte glutathione peroxidase studies, stool analysis, urinary peptides or vitamin and mineral deficiencies without a history of severe food selectivity.

ASD is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. Recent changes to the diagnostic criteria occurred with the transition to the new diagnostic manual (DSM-5) and will likely impact prevalence, which currently stands at 1 in 59 children in the US. ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain. Research continues to reveal factors that correlate with ASD risk and these findings may guide further etiologic investigation, but no final causal pathway has been elucidated. Clinical evaluation begins with developmental screening of the general pediatric population to identify at-risk children, followed by referral to a specialist for a definitive diagnosis and comprehensive neuropsychological assessment. Children with ASD should also be screened for common co-morbid diagnoses. While no clear biomarkers or diagnostic measures exist, clinical genetic testing is recommended as part of the initial medical evaluation. Further medical work up or subspecialist referrals may be pursued based on specific patient characteristics.

Acknowledgments

Funding: None.

Ethical Statement : The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Conflicts of Interest : The authors have no conflicts of interest to declare.

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  • Published: 16 January 2020

Autism spectrum disorder

  • Catherine Lord 1 ,
  • Traolach S. Brugha 2 ,
  • Tony Charman 3 ,
  • James Cusack 4 ,
  • Guillaume Dumas 5 ,
  • Thomas Frazier 6 ,
  • Emily J. H. Jones 7 ,
  • Rebecca M. Jones 8 , 9 ,
  • Andrew Pickles 3 ,
  • Matthew W. State 10 ,
  • Julie Lounds Taylor 11 &
  • Jeremy Veenstra-VanderWeele 12  

Nature Reviews Disease Primers volume  6 , Article number:  5 ( 2020 ) Cite this article

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  • Autism spectrum disorders
  • Cognitive neuroscience
  • Paediatrics

Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly restricted interests and/or sensory behaviours beginning early in life. The worldwide prevalence of autism is just under 1%, but estimates are higher in high-income countries. Although gross brain pathology is not characteristic of autism, subtle anatomical and functional differences have been observed in post-mortem, neuroimaging and electrophysiological studies. Initially, it was hoped that accurate measurement of behavioural phenotypes would lead to specific genetic subtypes, but genetic findings have mainly applied to heterogeneous groups that are not specific to autism. Psychosocial interventions in children can improve specific behaviours, such as joint attention, language and social engagement, that may affect further development and could reduce symptom severity. However, further research is necessary to identify the long-term needs of people with autism, and treatments and the mechanisms behind them that could result in improved independence and quality of life over time. Families are often the major source of support for people with autism throughout much of life and need to be considered, along with the perspectives of autistic individuals, in both research and practice.

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Acknowledgements

The authors thank J. McCauley, S. Gaspar, K. Byrne and A. Holbrook from UCLA for help with manuscript preparation. S. Tromans is thanked for his updated review of the epidemiology literature. We recognize the many investigators who contributed research that we cannot cite due to space limitations. C.L. is supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHHD; R01 HD081199), the National Institute of Mental Health (NIMH; R01MH081873-01A1) and the Simons Foundation. T.S.B. is supported by grants from the Health and Social Care Information Centre, Leeds, and the National Institute for Health Research (NIHR HTA; grant ref. NIHR127337). T.C. is supported by grants from Innovative Medicines Initiative 2 (no. 777394), the Medical Research Council (MRC; grants MR/K021389/1) and the NIHR (grant 13/119/18). J.C. is funded by Autistica. G.D. is supported by the Institut Pasteur. T.F. is supported by the Autism Speaks Foundation. E.J.H.J. is supported by grants from the Economic and Social Research Council (ESRC; ES/R009368/1), the Innovative Medicines Initiative 2 (no. 777394), the MRC (MR/K021389/1) and the Simons Foundation (609081). R.M.J. acknowledges the Mortimer D. Sackler Family and the NIMH (R01MH114999). J.L.T. is supported by grants from the FAR fund and the NIMH (R34 MH104428, R03 MH 112783 and R01 MH116058). A.P. is partially supported by the Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London and the NIHR (NF-SI-0617-10120). M.W.S. is supported by the National Institutes of Health (NIH; MH106934, MH109901, MH110928, MH116487 MH102342, MH111662, MH105575 and MH115747), the Overlook International Foundation and the Simons Foundation. J.V.-V. is supported by the NIH (MH016434 and MH094604), the Simons Foundation and the New York State Psychiatric Institute. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care.

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All authors read and edited the full document. Introduction (C.L.), Epidemiology (T.S.B.), Mechanisms/pathophysiology (M.W.S., G.D., R.M.J., T.C. and E.J.H.J.), Diagnosis, screening and prevention (T.C., E.J.H.J. and T.S.B.), Management (T.S.B., T.C., E.J.H.J., J.L.T. and J.V.-V.), Quality of life (J.L.T., J.C. and T.F.), Outlook (C.L. and A.P.), Overview of Primer (C.L.).

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C.L. acknowledges the receipt of royalties from Western Psychological Services for the sale of the Autism Diagnostic Interview-Revised (ADIR), the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ). T.S.B. has received royalties from Cambridge University Press and Oxford University Press. T.C. has served as a consultant to F. Hoffmann-La Roche. and has received royalties from Guilford Publications and Sage Publications. T.F. has received federal funding research support from, acted as a consultant to, received travel support from, and/or received a speaker’s honorarium from the Brain and Behaviour Research Foundation, Bristol-Myers Squibb, the Cole Family Research Fund, EcoEos, Forest Laboratories, Ingalls Foundation, IntegraGen, Kugona LLC, the National Institutes of Health, Roche Pharma, Shire Development and the Simons Foundation. J.L.T. receives compensation from Sage Publishers for editorial work. A.P. receives royalties from Imperial College Press, Oxford University Press and Western Psychological Services. M.W.S. serves on the scientific advisory boards and has stock or stock options for Arett Pharmaceuticals and BlackThorn Therapeutics. J.V.-V. has consulted or served on an advisory board for Novartis, Roche Pharmaceuticals and SynapDx, has received research funding from Forest, Novartis, Roche Pharmaceuticals, Seaside Therapeutics, SynapDx, and has received an editorial stipend from Springer and Wiley. All other authors declare no competing interests.

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literature review on autistic spectrum disorder

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Reading in autism spectrum disorders: a literature review.

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Fernanda Dreux Miranda Fernandes , Cibelle Albuquerque de La Higuera Amato , Carla Cardoso , Ana Luiza Gomes Pinto Navas , Daniela Regina Molini-Avejonas; Reading in Autism Spectrum Disorders: A Literature Review. Folia Phoniatr Logop 1 March 2016; 67 (4): 169–177. https://doi.org/10.1159/000442086

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Objective: To review what the literature says about reading abilities of children on the autism spectrum (autism spectrum disorders, ASD) as well as to assess the results of intervention proposals. The broad ASD diagnosis used in the last decades and the resulting changes in the prevalence of these disorders have led to a relevant increase in the number of children diagnosed with ASD in the school system. The purpose of this review is to identify the different profiles of reading abilities shown by children with ASD described in the recent literature and the results of reported intervention methods. Methods: A review of the literature was conducted in the Web of Sciences and PubMed databases with the keywords ‘autism' AND ‘read*' and the filter 2010-2015. All articles published in the last 5 years focusing on description of and intervention for reading abilities in individuals with ASD were included. Review articles were excluded. Results: The selected 58 articles were divided into those that described reading abilities in individuals with ASD (n = 27) and those that reported intervention procedures for reading development (n = 31). Conclusions: Direct comparisons and associations were prevented due to different inclusion criteria and lack of detailed information about intervention processes. We propose tentative conclusions that should be confirmed by further studies.

The increasing number of children with a diagnosis of autism spectrum disorders (ASD) in the school system demands consistent information about the characterization of their reading abilities and the results of different intervention alternatives.

ASD have been the focus of many studies based on several different perspectives. These may vary from genetic and neurologic correlates [ 1,2,3,4 ] to social and emotional impact [ 5,6,7 ], or educational issues [ 8,9 ], family perspectives [ 10,11 ] and different intervention proposals [ 12,13 ].

The definitions and diagnostic criteria for ASD vary significantly in different studies [ 14,15 ], and therefore the conclusions can hardly be compared or accumulated, providing consistent data. The changes in the definition of what should be included within the autism spectrum are just one of the many variations that must be considered [ 16,17 ].

The changes implemented in the DSM-5 classification criteria will probably lead to different groups of individuals receiving the diagnosis of ASD [ 18,19 ]. Therefore, comparing the results of studies conducted before and after these changes may become even more complicated. It can be assumed that the vast majority of the subjects in studies published until 2015 were diagnosed according to the DSM-IV criteria. However, it is virtually impossible to determine a time frame from which all papers refer to subjects diagnosed according to the DSM-5 criteria.

On the other hand, the broad ASD diagnosis used in the last three decades and the resulting changes in the prevalence of these disorders [ 20,21 ] have led to a relevant increase in the number of children diagnosed with ASD in the school system [ 22 ].

Regarding reading abilities, studies should describe whether they refer to decoding, such as performance in tasks of word recognition performance, or in a broader sense to word reading comprehension [ 23 ]. Children with ASD are often characterized as showing precocious word reading abilities [ 24 ], but even though these children may have good decoding skills, comprehension is impaired in most cases.

Considering these aspects, it is relevant to know, at this point, what the recent literature describes about reading abilities in children with ASD and the intervention approaches proposed to improve such skills. Therefore, a literature review was performed with the purpose to address the questions: ‘do children with autism have specific reading impairments?' and ‘do interventions with focus on reading abilities of children with autism have positive results?'.

The purpose of this review was to identify the different profiles of reading abilities of children with ASD and the results of different intervention methods reported in the literature.

Search Strategy

A review of the literature was conducted to answer the questions stated above. The Web of Sciences (WoS) and PubMed (PM) databases were searched with the keywords ‘autism' AND ‘read*' with the filter 2010-2015.

Inclusion criteria were: articles published in the last 5 years in peer-reviewed journals indexed in WoS and PM databases with the focus on a description of reading abilities and intervention with individuals with ASD. Review articles were excluded.

In order to obtain an overview of the available information about the characterization of reading abilities and intervention proposals no further criteria were applied in the selection of the reviewed papers.

The first search resulted in 782 articles; 604 in WoS and 178 in PM. The initial analysis aimed to determine which of them focused specifically on both autism and reading. This process resulted in 58 papers in WoS and 32 in PM, a total of 90 articles. They were further analyzed to eliminate duplicates (i.e. articles that were included both in WoS and PM) and publications that did not have enough data; this search resulted in 72 articles that were analyzed according to their content. Among these, 14 articles were reports on literature reviews and were, therefore, excluded. The remaining 58 were divided into two categories: (a) those that described the reading abilities of individuals with ASD (n = 27) and (b) those that reported intervention procedures towards reading development (n = 31) (fig. 1 ). Further inspection of the articles helped specifying the details of each study, number of participants, measures of literacy skills used, and main conclusions. The results are presented in tables 1 and 2 .

Articles about reading characteristics of persons with ASD

Articles describing intervention proposals regarding reading abilities of persons with ASD

Fig. 1. Search and selection process.

Search and selection process.

It can be observed that the number of participants in each study varied significantly. There are several papers describing studies with a relatively large numbers (59% of them report studies with more than 20 participants), some single-case studies (7%), and 4 studies that did not report the number of subjects (14%). Only 11% of 27 articles described studies with adults.

Regarding the type of measures used to evaluate literacy skills, most studies (44%) focused on single-word reading and text comprehension measures, some (29%) assessed cognitive abilities that are related to reading such as memory and oral language skills, whereas only 2 studies investigated spelling skills in this specific population.

Although the inclusion criteria for the participants in each study are not equivalent across the different papers, thus preventing a true meta-analysis, some tentative conclusions can be drawn.

- Performance in single-word reading tasks is better than reading comprehension.

- The oral language level is associated with reading comprehension.

- Persons with ASD have difficulties with reading comprehension despite eventually good or intact decoding skills.

- There is no confirmation of the weak central coherence hypothesis; it seems that the lack of association between meaning and word recognition is based on other factors.

- Nonverbal social and cognitive abilities are associated with reading comprehension and reading performance.

- Phonological processing seems to be less associated with reading comprehension performance than semantics and syntactic knowledge.

Contrary to what could be observed in articles describing reading abilities of persons with ASD, most of the papers describing intervention procedures had a small number of subjects [22 papers (70%) had 6 participants or less]. In total, these papers reported on 62 children and 5 adults. Six articles reported interventions with more than 18 participants, leading to a total of 143 children in these larger-number studies.

The intervention procedures described can be divided in two groups: those aiming to improve single-word reading and those directed to reading comprehension. Behavioral techniques are the basis for the strategies used in studies that focused on improving single-word reading. The conclusions of these articles imply that not all progress was generalized or maintained after the end of the training programs. The papers reporting programs for enhancing reading comprehension describe different approaches such as computer-assisted instruction, direct instruction, talking about a book, graphic organizers, story maps and prompting. Generalization to other abilities and stability of improvement were reported by these studies.

Three other articles refer to suggestions of intervention strategies such as scaffolding and the use of software designed to improve reading comprehension. These approaches are described as flexible, allowing one-to-one adaptations.

Characteristics of the reading process of persons with ASD were described in 27 articles that included 1,490 individuals. Direct comparisons and associations are prevented by the different inclusion criteria used in the different studies. However, it is possible to propose some preliminary conclusions that should be confirmed by further studies. Reading comprehension seems to be more associated with semantic and syntactic abilities in oral language than with phonological development. Decoding skills, apparently, are not directly associated with reading comprehension, thus leading to better performance in single-word reading tests than in reading comprehension. Nonverbal social and cognitive abilities seem to be associated with reading comprehension and reading performance, especially in what refers to the association of meaning to a word.

Intervention proposals regarding reading abilities of persons with ASD are reported in 31 articles that refer to a total of 210 subjects, including just 5 adults. Not all studies provide the detailed descriptions of the intervention procedures that would be necessary to make comparisons and associations between them. Very few studies include information about the duration of the intervention and the prior training of the therapists. Therefore, any conclusion about the reasons for the reported results would be premature. Better and more stable results are described by the articles that report interventions focused towards the improvement of reading comprehension, as opposed to the studies regarding the use of behavioral techniques to increase single-word reading abilities. However, there is not enough data about the duration of the intervention processes, specific characteristics of the participants before the intervention, training of the therapists in the area, specific material or resources used to allow hypotheses about better or more successful intervention methods.

Literacy acquisition in children and adults with ASD demand further assessment. The large individual variations of the autism spectrum may be reflected in the reading performance of persons with ASD, therefore resulting either in hyperlexia or in different forms of reading deficits. The identification of different reading strategies and specific profiles of abilities and impairments depends on efficient assessment tools that are essential to the design of more efficient intervention procedures.

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A Systematic Literature Review on the Relationship Between Autism Spectrum Disorder and Substance Use Among Adults and Adolescents

  • Original Article
  • Published: 17 February 2021
  • Volume 9 , pages 1–20, ( 2022 )

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  • Helandri Haasbroek   ORCID: orcid.org/0000-0003-4145-0625 1 , 2 &
  • Neo Morojele 2  

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Autism spectrum disorder has often been assumed to be a protective factor against substance use, yet the extent of substance use in this population has been difficult to determine as limited research has been done on these interacting variables. This systematic literature review examined 26 studies published between 2009 and 2019 to uncover the relationship between autism spectrum disorder and substance use. The types of participants included from the primary studies are adults and adolescents. A significant indication that this population is more susceptible to substance use and related disorders was found, yet this may only remain true for adults. Various interacting environmental and genetic/neurological factors combine and may contribute towards this vulnerability such as feelings of isolation, deficits in executive functioning and genetic heritability. High comorbidity rates of depression, anxiety disorders and attention deficit/hyperactivity disorder may further strengthen this vulnerability. Screening for substance use in these patients is not a common practice and the treatment of substance use disorder remains a challenge suggesting that many individuals may remain underdiagnosed. This research paper thus demonstrates the need and importance of more primary research to be done and for greater awareness of this vulnerability within mental health settings.

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Haasbroek, H., Morojele, N. A Systematic Literature Review on the Relationship Between Autism Spectrum Disorder and Substance Use Among Adults and Adolescents. Rev J Autism Dev Disord 9 , 1–20 (2022). https://doi.org/10.1007/s40489-021-00242-1

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DOI : https://doi.org/10.1007/s40489-021-00242-1

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Ediyanto , Verra Wulandary , Dwi Fatmawati; Science learning for student with autism spectrum disorder: A literature review. AIP Conf. Proc. 1 April 2020; 2215 (1): 040004. https://doi.org/10.1063/5.0000727

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In the realization of science for all, all students must access and study science learning, including those with special educational needs. In a previous review, it was found that Students with Hard of Hearing and Visually Impaired can understand science when learning with proper support tools and the right learning models. In this literature review, we will study science learning for students with autism. This review is essential because the number of children with autism spectrum disorder (ASD) has risen to one in 68 children. Based on a study of eleven peer review articles on the ERIC database published in 2010-2019, it was shown that students with autism could learn science well by using interactive books in the form of science textbooks, e-text, or computer programs. However, it was not found about students with autism practising in the science laboratory, learning with problem-based learning models, and argument- based science inquiry.

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Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder

  • 1 Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland
  • 2 Department of Special Education, Towson University, Towson, Maryland
  • 3 Department of Mental Health, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland
  • 4 Autism Research and Engagement Core, Maryland Center for Developmental Disabilities, Kennedy Krieger Institute, Baltimore
  • 5 Maryland Center for Developmental Disabilities, Kennedy Krieger Institute, Baltimore

Identification of both autism spectrum disorder (ASD) and suicidal thoughts and behaviors (STBs) among children and adolescents (hereinafter, children) is increasing in the US. Suicide rates among children aged 10 to 14 years tripled between 2007 and 2021, becoming the second leading cause of death in the US for this age group. 1 Between 2018 and 2021, 315 suicides were reported among US children aged 5 to 11 years. 1 Individuals with ASD show increased rates of STBs, although prevalence estimates vary by study. Research on STBs among those with ASD is characterized by lack of knowledge about the developmental understanding of suicide and finality of death. 2 Given the increasing trend in STBs among preteens in the US and known elevated rates of STBs among those with ASD, this study examined age at onset of STBs among children with ASD.

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Schindel BJ , Baer Chen B , Wilcox HC , Marvin AR , Law JK , Lipkin PH. Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder. JAMA Pediatr. Published online April 01, 2024. doi:10.1001/jamapediatrics.2024.0207

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    Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. ... Demily C, Poisson A, Peyroux E, et al. Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. BMC Med Genet 2017; 18:9. 10. ...

  2. Autism Spectrum Disorder: A Review

    ImportanceAutism spectrum disorder (ASD), characterized by deficits in social communication and the presence of restricted, repetitive behaviors or interests, is a neurodevelopmental disorder affecting approximately 2.3% children aged 8 years in the US and approximately 2.2% of adults. This review summarizes evidence on the diagnosis and ...

  3. Autism Spectrum Disorder: a Review of Behavioral and Psychiatric

    Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition typically diagnosed in childhood. The prevalence and impact of co-occurring behavioral and psychiatric disorders in individuals with ASD are substantial. A growing body of research reveals evidence of the frequent association between ASD, behavioral disturbances, suicidality, ADHD, mood disorders, anxiety disorders, OCD ...

  4. Autism spectrum disorder

    Molecular Autism (2024) Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly ...

  5. Childhood adversity, resilience, and autism: a critical review of the

    The long-term, negative physical and mental health effects of childhood adversity are well-documented in the literature, as are the mitigating effects of resilience factors. However, for those on the autism spectrum, these phenomena are relatively unstudied and not well-understood. Articulating the concept of mental health as a function of ...

  6. Recent advancement in interventions for autism spectrum disorder: A review

    Recent advancement in interventions for autism spectrum disorder: A review. Autism spectrum disorder (ASD), a complicated neurobehavioral disorder, is characterised by challenges in social contact, a lack of verbal development, communication difficulties, and difficult and repetitive behaviour. Articles published in the years 2010-2022 were ...

  7. Immunogenetics of autism spectrum disorder: A systematic literature review

    Abstract. The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined. The presence of immune dysregulations in autistic individuals, and their families, supports a role of the immune system and its genetic regulators.

  8. Autism Spectrum Disorder and the Implications For Higher ...

    Autism spectrum disorder (ASD) or autism spectrum condition (ASC) occurs in about one out of 66 children (Public Health Agency of Canada, 2018). ASC is normally diagnosed in childhood although more adults are now being identified as autistic later in life. ASC is one of the fastest growing developmental disabilities being diagnosed in the US

  9. Treatments for Autism Spectrum Disorder: Literature Review

    This paper is a literature review of some of the popular treatments for autism spectrum disorder. (ASD). It begins with an overview of ASD, the common symptoms, and comorbidities. It. includes a review of pharmacological treatments, behavioral treatments, and dietary treatments. Some treatment options in each of those categories are explained ...

  10. A Review of Literature on Interventions Aimed at Increasing ...

    Objectives This review aimed to investigate interventions designed to enhance play for children with autism spectrum disorder (ASD), emphasizing the utilization of typically developing peers and adults within the intervention. The primary focus is on understanding the impact of such interventions on improving social communication skills, play engagement, and community integration for children ...

  11. Reading in Autism Spectrum Disorders: A Literature Review

    Abstract. Objective: To review what the literature says about reading abilities of children on the autism spectrum (autism spectrum disorders, ASD) as well as to assess the results of intervention proposals. The broad ASD diagnosis used in the last decades and the resulting changes in the prevalence of these disorders have led to a relevant increase in the number of children diagnosed with ASD ...

  12. Autism Spectrum Disorder and Savant Syndrome: A Systematic Literature

    Objectives: This study aimed to analyze research trends in autism spectrum disorder (ASD) and savant syndrome and their cognitive characteristics through a systematic literature review ...

  13. A Systematic Literature Review on the Relationship Between Autism

    Autism spectrum disorder has often been assumed to be a protective factor against substance use, yet the extent of substance use in this population has been difficult to determine as limited research has been done on these interacting variables. This systematic literature review examined 26 studies published between 2009 and 2019 to uncover the relationship between autism spectrum disorder and ...

  14. Science learning for student with autism spectrum disorder: A

    This review is essential because the number of children with autism spectrum disorder (ASD) has risen to one in 68 children. Based on a study of eleven peer review articles on the ERIC database published in 2010-2019, it was shown that students with autism could learn science well by using interactive books in the form of science textbooks, e ...

  15. High-Functioning Autism and Virtual Reality Applications: A Scoping Review

    In recent years, the number of applications of virtual reality (VR) for the Autism spectrum disorder (ASD) population has increased and has become one of the most suitable tools to address the psychological needs of these individuals. The present scoping review aims to provide a literature mapping of experimental studies that have used immersive and semi-immersive VR for assessments or ...

  16. Suicidal Thoughts and Behaviors Among Children and Adolescents With

    Suicidal Thoughts and Behaviors (STBs) in Children and Adolescents Aged 8 to 17 Years With Autism Spectrum Disorder. ... Wilson C. Suicidality in autistic youth: a systematic review and meta-analysis. ... The findings of this survey study add to the literature on STBs among children with ASD 2 by indicating a possible earlier ...

  17. First-episode psychosis and autism spectrum disorder: A scoping review

    Background: Undiagnosed Autism Spectrum Disorder (ASD) may represent a diagnostic challenge in people who refer to specialized services for first-episode psychosis (FEP). Similarly, individuals with ASD can present newly-onset psychotic symptoms. Aims: The present review aimed to summarize the literature available on ASD and FEP to guide differential diagnosis between the two conditions and ...

  18. Full article: The Effect of Parent-Mediated Joint Attention

    This approach of including studies from different intervention designs, is however, feasible and been used in autism literature ... related to culturally and linguistically diverse minority parents' service decisions for their children with autism spectrum disorder. Review Journal of Autism and Developmental Disorders, ...

  19. Autism Acceptance Month: The History and Impact

    In April 2023, the CDC estimated that 1 in 36 children were identified as having autism spectrum disorder in 2020; the estimate for the year 2000 was 1 in 150 children.² The CDC also claims that ...