Autism in DSM-5

BackgroundThe diagnostic boundaries between autism spectrum disorder (ASD) and specific language impairment (SLI) are not clear‐cut. Evidence of the lack of distinct boundaries between these disorders comes from research identifying a group of children who have pragmatic language difficulties that can be distinguished from those in children with SLI and those with ASD. These findings have led to the inclusion of a new diagnostic category, social (pragmatic) communication disorder (SPCD), in the Diagnostic and Statistical Manual of Mental Disorders‐5th Edition DSM‐5. While this new diagnostic category appears to capture a subgroup of children who may not have been recognised in the DSM‐IV, SPCD has been criticised due to a lack of empirical evidence, showing that the disorder is distinct from ASD in terms of aetiology, intervention, and prognosis.ObjectiveThe purpose of this paper was to summarise the literature that has investigated overlaps in the phenotypes of SLI, ASD, and SPCD. A secondary objective was to present a framework for the assessment and diagnosis of these three conditions.Method and ResultsIn this paper, we review the research that has examined overlaps in the aetiologies and phenotypes of ASD, SPCD, and SLI. While the results highlighted overlaps in the language profiles and autistic symptomatology, these three conditions could also be distinguished based on the severity of the social communication deficits and the absence of rigid and repetitive behaviour in strictly defined cases of SPCD and SLI.ConclusionsStrictly defined cases of SPCD and SLI can be distinguished from ASD. However, there is a lack of assessment tools that can reliably distinguish these three conditions. We consider the clinical implications of the findings and present a model of assessment and diagnosis for ASD, SLI, and SPCD.

Symptoms of inattention and hyperactivity, features of attention-deficit/hyperactivity disorder (ADHD), have been frequently documented in children with autism spec‐ trum disorders (ASDs) and often co-occur. Evidence indicates that 20-50% of children with ADHD meet criteria for ASD, and 30-80% of ASD children meet criteria for ADHD. According to the DSM-IV, the essential features of Autistic Disorder (AD) are “the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interests”. Differ‐ ential diagnosis of “Pervasive Developmental Disorder” (PDD: Autistic Disorder, Re‐ tt's Disorder, Childhood Disintegrative Disorder, Asperger's Disorder) and “Pervasive Developmental Disorder-Not Otherwise Specified”(PDD-NOS) is often difficult in the preschool child. This is particularly true when assessing verbal and nonverbal com‐ munication since both expressive and cognitive language are not yet established and there are many differences in their acquisition period among these children (before the age of three). As a result, many of these children are diagnosed with PDD-NOS not meeting the criteria for a specific type of PDD; this category includes atypical au‐ tism presentations that do not meet the criteria for AD. As a result, the concept of PDD-NOS has become a mixed bag. Often, diagnosis cannot be established before age three, delaying therapeutic interventions. Moreover, differential diagnosis between ADHD and PDD-NOS can be especially difficult, mainly in infant and young chil‐ dren. However, and following the recommendations of the DSMIV, the ASDs diag‐ nosis has been included among the exclusion criteria for the ADHD. Such exclusion has generated considerable controversy regarding the necessity and benefits of main‐ taining these separations. At present, a new edition of the DSM has been published: DSM-5® (Fifth Edition, 2013). Among the advantages that this new manual provides are: i) further categoriza‐ tion of the persons affected and ii) the possibility of diagnosis before the age of three. The DSM-5 takes into account that limitations in language are not specific to autism. The new diagnostic category “Social Communication Disorder” appears separate from ASD, which does not seek to create a new subcategory. © 2015 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. In light of the new DSM-V criteria which allow a dual diagnosis of ASD and ADHD behaviors, in this chapter we will review the clinical overlap of these two conditions, particularly regarding their comorbidities in community pre-schoolers (generally categorized as PDD-NOS). We will also look into possible future research directions necessary to enhance our understanding of the etiology/genetics factors as well as the appropriate sequence of therapeutic interventions and pharmacological treatment (psychostimulant and nonstimulant medications) for the co-occurrence of these disor‐ ders.

IMPULSIVITY AND COMPULSIVITY: TRANSLATIONAL APPROACHES TO COMPULSIVITY IN AUTISM SPECTRUM DISORDERS

Social communication in autism spectrum disorder not improved by Theory of Mind interventions.

Adolescents diagnosed with autism spectrum disorder (ASD) or social communication disorder (SCD) experience social communication difficulties. Social skills training (SST) for this population has proven effective, although its use remains restricted due to limited accessibility. This multicenter, parallel, open-label, assessor-blinded, randomized controlled pilot trial evaluated the efficacy of NDTx-01, a mobile application game integrating SST, in patients aged 10 to 18 years diagnosed with ASD or SCD. A total of 39 participants fulfilled the eligibility criteria and were randomly assigned to two groups. While the control group received treatment as usual (TAU), the intervention group (INT + TAU) engaged with TAU plus NDTx-01 for 10 minutes, five times per week, for 6 weeks. The primary outcome measure included changes in the adaptive behavior composites (ABC) of the Korean Vineland Adaptive Behavior Scale-II. Secondary measures included Social Responsiveness Scale-2 (SRS-2) scores, anxiety levels, and parenting stress. One participant in the INT + TAU group withdrew consent. Thirty-eight patients remained for analysis. Compared with the TAU group (n = 19, 18 males; age, 13.58 ± 2.14 years), the INT + TAU group (n = 19, 16 males; age, 13.42 ± 2.36 years) exhibited significant improvements (INT + TAU 5.89 ± 5.61 vs TAU 1.21 ± 5.99) in the ABC (P = 0.037) after 6 weeks. Additionally, a significant reduction in restricted interests and repetitive behaviors (INT + TAU -9.11 ± 10.26 vs TAU -2.89 ± 7.13) in SRS-2 scores was found (P = 0.037). No adverse events were reported in participants. The mobile game-based SST has demonstrated effectiveness in adaptive functioning in young patients with ASD or SCD. A further confirmatory study with power estimate is required to validate the effects of NDTx-01. This randomized controlled study was registered in Clinical Research Information Service, National Center for Medical Information and Knowledge, Republic of Korea (Registration Number: KCT0009140, https://cris.nih.go.kr/cris/search/detailSearch.do?seq=26713&search_page=L).

Inhibitory control deficits are common in autism spectrum disorder (ASD) and associated with more severe repetitive behaviors. Inhibitory control deficits may reflect slower execution of stopping processes, or a reduced ability to delay the onset of behavioral responses in contexts of uncertainty. Previous studies have documented relatively spared stopping processes in ASD, but whether inhibitory control deficits in ASD reflect failures to delay response onset has not been systematically assessed. Further, while improvements in stopping abilities and response slowing are seen through adolescence/early adulthood in health, their development in ASD is less clear. A stop-signal test (SST) was administered to 121 individuals with ASD and 76 age and IQ-matched healthy controls (ages 5-28). This test included 'GO trials' in which participants pressed a button when a peripheral target appeared and interleaved 'STOP trials' in which they were cued to inhibit button-presses when a stop-signal appeared at variable times following the GO cue. STOP trial accuracy, RT of the stopping process (SSRT), and reaction time (RT) slowing during GO trials were examined. Relative to controls, individuals with ASD had reduced accuracy on STOP trials. SSRTs were similar across control and ASD participants, but RT slowing was reduced in patients compared to controls. Age-related increases in stopping ability and RT slowing were attenuated in ASD. Reduced stopping accuracy and RT slowing were associated with more severe repetitive behaviors in ASD. Our findings show that inhibitory control deficits in ASD involve failures to strategically delay behavioral response onset. These results suggest that reduced preparatory behavioral control may underpin inhibitory control deficits as well as repetitive behaviors in ASD. Typical age-related improvements in inhibitory control during late childhood/early adolescence are reduced in ASD, highlighting an important developmental window during which treatments may mitigate cognitive alterations contributing to repetitive behaviors.

One of the remarkable characteristics of autism spectrum disorder (ASD) is the dysregulation of functional connectivity of the triple-network, which includes the salience network (SN), default mode network (DMN), and central executive network (CEN). However, there is little known about the segregation of the triple-network dynamics in ASD. This study used resting-state functional magnetic resonance imaging data including 105 ASD and 102 demographically-matched typical developing control (TC) children. We compared the dynamic time-varying triple-network segregation and triple-network functional connectivity states between ASD and TC groups, and examined the relationship between dynamic triple-network segregation alterations and clinical symptoms of ASD. The average dynamic network segregation value of the DMN with SN and the DMN with CEN in ASD was lower but the coefficient of variation (CV) of dynamic network segregation of the DMN with CEN was higher in ASD. Furthermore, partially reduced triple-network segregation associated with the DMN was found in connectivity states analysis of ASD. These abnormal average values and CV of dynamic network segregation predicted social communication deficits and restricted and repetitive behaviors in ASD. Our findings indicate abnormal dynamic time-varying triple-network segregation of ASD and highlight the crucial role of the triple-network in the neural mechanisms underlying ASD.

The functioning of the central nervous system (CNS) is the result of the integration of bidirectional messages between the brain and peripheral organs. Despite the anatomical separation, gut microbiota, i.e., the microorganisms colonising the gastrointestinal tract, is related to the CNS through the so-called “gut–brain axis” that is also involved in immune processes. The recent literature indicates that the gut microbiota may affect brain functions through endocrine and metabolic pathways, antibody production and the enteric network, while supporting its possible role in the onset and maintenance of several neuropsychiatric and neurodevelopmental disorders, such as autism spectrum disorders (ASDs). The term ASDs includes autistic disorder, Asperger’s syndrome, childhood disintegrative and pervasive developmental disorders not otherwise specified different. All these conditions are characterised by persistent deficits in social communication and social interaction, as well as limited and repetitive behaviours, interests or activities. In the last two decades, an impressive number of cross-sectional studies reported significant differences in microbiota composition between children with an ASD and controls, thus strengthening the hypothesis of a possible link between GI dysbiosis and ASD. The amount of studies documenting the possible involvement of microbiota in ASD pathogenesis led to considering whether treatments acting on gut flora could ameliorate ASD symptoms. The available findings, although preliminary, would indicate data gut microbiota might represent an interesting field of research for a better understanding of the pathophysiology of ASD (of also of other neuropsychiatric disorders), and possibly a target for the development of innovative treatments just labelled as “psychobiotics”.DisclosureNo significant relationships.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and the presence of restricted and repetitive patterns of behavior. Making a first diagnosis of ASD in adults has certain difficulties, including inaccurate recall of developmental history and overlapping behaviors with other psychiatric conditions. This case study presents a young man who was assessed to have no major mental illness during his first visit to emergency services in a psychiatric hospital. During his second visit, he was initially assessed to have first episode psychosis, due to his possible delusional beliefs related to the insurance payout, social withdrawal, and strange behaviors, and then later he was assessed to have obsessive-compulsive disorder (OCD) instead of psychosis, because of his recurrent and intrusive thoughts. Eventually, his diagnosis was revised to ASD during outpatient follow-up after more comprehensive assessment. It is not easy to differentiate ASD from psychosis among some adult patients, even for expert psychiatrists. Cognitive rigidity in ASD may be similar to delusions in psychosis. Unusual behaviors in ASD can be confused with disorganized behaviors in psychosis. Differentiating ASD from OCD can be a complicated task as well, due to similarities between ASD and OCD. Restricted interests and repetitive behaviors in ASD may be perceived as obsessions and compulsions in OCD. Overall, diagnosis of ASD in adults requires comprehensive evaluation. Distinguishing symptoms of OCD and psychosis from autistic traits is critical for accurate diagnosis and optimal treatment. Although research in adult ASD has expanded alongside increased prevalence statistics over the past few years, more efforts to enhance the diagnostic processes in adult ASD are needed to reduce the challenges in this field.

Social communication, repetitive behaviors and interests, and adaptive behavior in girls with autism spectrum disorder (ASD) without intellectual disability were compared to a group of typically developing (TD) girls.Thirty seven girls 7;5-15;2 were included: 18 ASD and 19 TD. Groups were matched on age and IQ. Social Communication Questionnaire (SCQ), Autism Diagnostic Observation Schedule (ADOS-2), and Vineland Adaptive Behavior Scales (VABS-2) were administered.Item level scores within the subdomains of reciprocal social interaction, communication, and repetitive behaviors and interests were examined on the SCQ and ADOS-2. With unadjusted p, significant differences between groups were observed on 21 of 36 items on the SCQ. With adjusted p, significant differences between groups were observed on 17 of the 36 total items. With unadjusted p, significant differences between groups were observed on 20 of 32 total items on the ADOS-2. With adjusted p, significant differences between groups were observed on 16 of the 32 total items. Within the ASD group significant negative correlation was observed between ADOS-2 repetitive behaviors and interests and SCQ communication. The ASD group demonstrated borderline to moderately low VABS-2 scores.Girls with ASD may demonstrate relative strengths in social communication on diagnostic measures. Differences in the expression of repetitive behaviors and interests between girls with ASD and girls with TD may not be observed during structured observation but may be reported by parents. Girls with ASD demonstrate weaker socialization skills relative to other adaptive behaviors and indicate a priority for treatment.

The ability to coordinate attention to events or objects between interactive social partners, referred to as social attention, is of great significance for adaptive social behaviors and nonverbal communications in our daily life, helping us to infer other person’s inner state (e.g., intentions, goals) and learn about where important events (e.g., food, danger) occur in the environment. In recent years, many studies have demonstrated that social cues (e.g., eye gaze, head orientation and walking direction of biological motion) can trigger reflexive attentional orienting effects using adapted central cueing paradigm originally designed by Posner. However, not all of us are equally adept at directing attention to where others are focusing on, and this ability is strongly impaired in individuals with autism spectrum disorder (ASD), a highly genetic neurodevelopmental disorder marked by striking social deficits and repetitive behaviors. Here we systematically reviewed recent work on abnormal social attention behaviors and its underlying neural mechanisms in ASD. We first expatiated a typical social attention behaviors indexed by covert and overt attention in ASD. It has been documented that ASD individuals tend to show reduced reflexive orienting effect manifesting itself in both covert attention and overt eye movement compared to typically developing individuals (TD). Yet some controversies concerning the malfunction of social attention in ASD remain to be resolved, based on some evidence demonstrating comparable orienting effect between ASD and TD group. Then we summarized the development course of social attention in ASD. Crucially, atypical orienting to eye gaze is more likely to be observed in younger children but not older children or adults with ASD. It is reasonable to postulate that ASD individuals may acquire this ability through overlearning the association between social cues and targets in everyday life as they grow older. Furthermore, we discussed the neural basis of abnormal social attention behaviors in ASD. Using a combination of psychophysical paradigms and neuroimaging techniques, researchers have reported atypical neural activities in superior temporal gyrus and prefrontal cortex under the supraliminal condition as well as abnormal activation in amygdala under the subliminal condition in the brain of ASD. Moreover, the ASD group showed much less difference in activation of frontoparietal attention networks between social and nonsocial attention task than the TD group, implying disruptive social attention in ASD. Finally, several perspectives on further investigations were put forward given the controversies and insufficient evidence concerning the malfunction of social attention in ASD. Future studies should employ multiple types of social cues (e.g., eye gaze and walking direction of biological motion) in conjunction with more ecological paradigms to investigate conscious and non-conscious social attention behaviors from a developmental approach. More importantly, more neuroimaging studies are needed to explore the functional connections among several key cortical regions and subcortical regions underlying atypical social attention behaviors in ASD. Such efforts will help to facilitate the early diagnosis and intervention of ASD.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disability that demonstrates impaired social interactions, communication deficits, and restrictive and repetitive behaviors. ASD has a strong genetic basis and many ASD-associated genes have been discovered thus far. Our previous work has shown that loss of expression of the X-linked gene NEXMIF/KIDLIA is implicated in patients with autistic features and intellectual disability (ID). To further determine the causal role of the gene in the disorder, and to understand the cellular and molecular mechanisms underlying the pathology, we have generated a NEXMIF knock-out (KO) mouse. We find that male NEXMIF KO mice demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory. Loss of NEXMIF/KIDLIA expression results in a significant decrease in synapse density and synaptic protein expression. Consistently, male KO animals show aberrant synaptic function as measured by excitatory miniatures and postsynaptic currents in the hippocampus. These findings indicate that NEXMIF KO mice recapitulate the phenotypes of the human disorder. The NEXMIF KO mouse model will be a valuable tool for studying the complex mechanisms involved in ASD and for the development of novel therapeutics for this disorder.SIGNIFICANCE STATEMENT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by behavioral phenotypes. Based on our previous work, which indicated the loss of NEXMIF/KIDLIA was associated with ASD, we generated NEXMIF knock-out (KO) mice. The NEXMIF KO mice demonstrate autism-like behaviors including deficits in social interaction, increased repetitive self-grooming, and impairments in communication and in learning and memory. The KO neurons show reduced synapse density and a suppression in synaptic transmission, indicating a role for NEXMIF in regulating synapse development and function. The NEXMIF KO mouse faithfully recapitulates the human disorder, and thus serves as an animal model for future investigation of the NEXMIF-dependent neurodevelopmental disorders.

Background: Social communication (SC) includes the use and interpretation of verbal and non-verbal messages within a social context and thus requires more than knowledge of language. Social communication skills are essential for connecting and engaging with others, and SC deficits are often associated with emotional and behavioral problems. There is a lack of feasible instruments for assessing SC skills in individuals with intellectual disability (ID).Methods: A questionnaire on social communication in adults with ID (QSC-ID) comprising 20 Likert-scaled items was developed and completed on behalf of participants (n = 52) from three Austrian therapeutic living communities for people with ID and deafness by their living- and working-facility key caregivers. The sample of adults with hearing loss was considered ideal for the development of a measure of SC that is not restricted to a specific communication mode or overly related with language skills.Results: The preliminary results showed high construct validity. Correlations were high between SC and language, social skills, and severity of autism spectrum disorder (ASD), moderate between SC and adaptive skills, and non-verbal intelligence and, as expected, low between SC and motor skills. Interrater reliability was found to be good or at least acceptable for all items. Total raw scores were well-distributed over the whole range—Cut-offs based on the 10th and 20th percentile are suggested to identify atypical and borderline SC skills. Caregiver feedback and completeness of data suggest that the questionnaire is highly feasible.Conclusion: Questionnaire on social communication in adults with ID is an easy-to-use caregiver-reported questionnaire for use with individuals with mild to severe forms of ID. Initial testing of validity looks promising. Further validation in populations with typical hearing is required. Due to substantial correlations between SC and structural language skills the calculation of specific SC cut-offs for different levels of linguistic skills should be considered when sufficient data is available.

Autism spectrum disorder (previously known as pervasive developmental disorders) is characterized by social communication deficits, impaired functioning, and restrictive or repetitive behaviors and interests. Patients with autism spectrum disorder also commonly experience core maladaptive behaviors such as aggression and irritability, self-injurious behaviors, hyperactivity, and sleep abnormalities. These behaviors may be sources of stress for caregivers and patients alike and may require pharmacologic management. Risperidone and aripiprazole are frequently used to treat both irritability and self-injurious behavior related to autism spectrum disorder. The opioid antagonist naltrexone has also been studied for self-injurious behaviors, although long-term data are lacking when used in the autism spectrum disorder population. Methylphenidate, atomoxetine, clonidine, and guanfacine are all potential options for the treatment of hyperactivity or attention-deficient hyperactivity disorder-like symptoms in patients with autism spectrum disorder. Lastly, melatonin is the most widely researched medication strategy for the management of sleep disorders in autism spectrum disorder. Future studies reviewing new pharmacologic treatment approaches in combination with non-pharmacologic therapies are warranted to ensure that target behaviors of autism spectrum disorder are appropriately managed.

Purpose Autism spectrum disorder (ASD) is characterized by deficits in social communication and interaction, restricted interests and repetitive behavior. Humor appreciation in autistic individuals has been examined from the perspective of incongruity-resolution theory but not fully examined in terms of benign violations. Therefore, this study aims to examine the benign violation theory of humor appreciation among autistic individuals. Design/methodology/approach In total, 38 and 462 autistic and non-autistic participants rated the degree of humor appreciation, violation appraisal and benign appraisal of 12 humorous stimuli. Furthermore, participants completed the Social Responsiveness Scale 2 Adult-Self Edition. Findings Restricted interests and repetitive behavior had significant positive effects on humor appreciation, violation appraisal and benign appraisal. Focusing on autistic traits, especially restricted interests and repetitive behavior, is important when considering humor appreciation in autistic individuals because differences in the degree of restricted interests and repetitive behavior are considered a gap in sharing humor. Originality/value This study focused on autistic traits such as deficits in social communication, restricted interests and repetitive behavior and examined their relationships with humor appreciation from the perspective of benign violation theory. The findings suggest that these three autistic traits are involved in the gap in sharing humor between autistic and non-autistic individuals. Therefore, identifying the association between autistic traits and humor appreciation offers a new perspective to support the formation of humorous relationships between autistic and non-autistic individuals.