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1.
Autism Res ; 12(4): 636-644, 2019 04.
Article in English | MEDLINE | ID: mdl-30663859

ABSTRACT

Improving measurement of outcomes in randomized controlled trials of early interventions for autism spectrum disorder (ASD) has been identified as a priority in the field. In addition, the importance of measurement across contexts has been indicated by researchers and community stakeholders alike [Lord et al., ; McConachie et al., ; Schreibman et al., ]. The Brief Observation of Social Communication Change (BOSCC; Grzadzinski et al., ), an observational rating scheme of brief play interactions, was developed to address a need for measures that are reliable, sensitive to change, and valid for use in research settings. The goal of this study was to examine the feasibility and utility of applying the BOSCC to a new context: a home snack routine. Results suggest that rating the BOSCC on home snack routines is feasible and psychometrically sound, and captures change in child social communication behaviors. However, the utility of the BOSCC for measuring restricted and repetitive behaviors (RRBs) is less clear. Nonetheless, differences in RRBs across play and snack lend support for the claim that measurement across contexts is essential. Application of the BOSCC across contexts may allow researchers to obtain a more accurate estimate of intervention response and help capture context-specific changes in social communication. It may also provide a method for researchers to evaluate the effect of context on child social communication more broadly. Autism Res 2019, 12: 636-644. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Improving measurement of outcomes in studies of early interventions for autism spectrum disorder (ASD) has been identified as a priority in the field. The importance of measurement across contexts has also been indicated by researchers and community stakeholders. The goal of this study was to determine whether an existing observational rating scheme, the Brief Observation of Social Communication Change (BOSCC), could be applied to a new activity: a home snack routine. Results suggest that rating the BOSCC on home snack routines is feasible and promising for capturing change over time. In addition, some child behaviors differed across play and snack, lending further support for the claim that measurement across activities is essential.


Subject(s)
Autism Spectrum Disorder/complications , Autism Spectrum Disorder/physiopathology , Play and Playthings/psychology , Snacks , Social Communication Disorder/complications , Social Communication Disorder/diagnosis , Autism Spectrum Disorder/psychology , Child, Preschool , Family , Feasibility Studies , Female , Humans , Male , Psychometrics , Social Communication Disorder/physiopathology
2.
Autism Res ; 12(1): 89-99, 2019 01.
Article in English | MEDLINE | ID: mdl-30101492

ABSTRACT

This study explored change in social-communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver-reported social-communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social-communicative impairment at 2 years and significant decreases in overall symptom levels across the 17-year period (P < .001). Across three subdomains, main effects of time and language (P < .001) reflected patterns of overall improvement, although children with more impaired language tended to have more caregiver-reported symptoms relative to verbal peers. A significant time-by-language interaction (P < .001) reflected that trajectories of socioemotional reciprocity symptoms differed according to patterns of language development. In contrast, improvements in the nonverbal communication domain were seen across language groups, whereas deficits in the development and maintenance of relationships improved for only verbal children. Verbal adults showed significant reductions in the prevalence of kseveral symptoms exhibited during childhood. Improvements suggest that symptoms indicative of ASD in young children may no longer be diagnostic markers in adolescents and adults. Relative stability of several items suggests that impaired facial expression may be a core ASD symptom that warrants more systematic study across the lifespan. Research investigating the manifestation of ASD in older individuals is needed to foster development of appropriate assessment tools and interventions. Differential relationships to developmental factors within the broader social-communication domain underscores a need to focus on more narrowly defined symptom constructs when exploring links between pathophysiology and observable phenotypes. Autism Research 2019, 12: 89-99. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In a sample of 140 participants with autism spectrum disorder (ASD) followed from 2 to 19 years old, this study found that overall social-communicative symptoms improve across childhood and adolescence. However, timing and amount of change varied for different symptom categories and participants with different language abilities. Findings suggest that some older adolescents and adults with ASD may not exhibit the same difficulties observed in young children with ASD. More research is needed to better understand the strengths and needs of young adults with ASD.


Subject(s)
Autism Spectrum Disorder/complications , Autism Spectrum Disorder/physiopathology , Social Communication Disorder/complications , Social Communication Disorder/physiopathology , Adolescent , Adult , Autism Spectrum Disorder/diagnosis , Child , Child, Preschool , Female , Humans , Longitudinal Studies , Male , Prospective Studies , Social Communication Disorder/diagnosis , Young Adult
3.
Autism Res ; 11(12): 1701-1711, 2018 12.
Article in English | MEDLINE | ID: mdl-30475454

ABSTRACT

A pilot community-based randomized controlled trial was conducted to compare the effects of the Picture Exchange Communication System (PECS) to a teaching sequence using a high-tech Speech Generating Device (SGD) to teach social communication behaviors. The two approaches were compared to evaluate the effectiveness of the newer, more high-tech intervention using technology to improve social and communicative behavior of children diagnosed with Autism Spectrum Disorder. A total of 35 school-age children were randomized to either a high-tech (SGD device) or low-tech (PECS cards) form of Augmentative and Alternative Communication (AAC). Study participants received 4 months of communication training delivered in their classrooms, and the primary outcome measures of the trial were several functional communication skills emphasized in the PECS teaching sequence. Results indicated that both high-tech and low-tech AAC approaches resulted in significant improvements in communication, and that these improvements did not differ significantly between the two approaches. These findings support the use of high-tech AAC, and highlight the need for evidence-based guidelines for its use as well as evaluation with individuals with a range impairments and disabilities. Autism Research 2018, 11: 1701-1711. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study compared the effectiveness of a free and open-source app for teaching social and communicative behavior to children with autism spectrum disorder (ASD) to traditional picture card approaches. Thirty-five children with ASD were randomized to a picture card or app-based intervention and both treatment approaches resulted in significant improvements in social and communicative behavior. These data indicated that both "high-tech" and "low-tech" interventions were effective for improving behavior and that there was not a significant difference between the two approaches.


Subject(s)
Autism Spectrum Disorder/complications , Communication Aids for Disabled , Social Communication Disorder/complications , Social Communication Disorder/therapy , Adolescent , Child , Child, Preschool , Female , Humans , Ireland , Male , Pilot Projects
4.
Autism Res ; 11(12): 1629-1634, 2018 12.
Article in English | MEDLINE | ID: mdl-30475456

ABSTRACT

As the diagnosis and treatment of Autism Spectrum Disorder (ASD) becomes a greater public health concern, access to professionals and expert assessment becomes increasingly more challenging. Novel techniques to improve efficiency of assessment of young children with social communication concerns are desperately needed to address significant barriers to accessing diagnostic evaluations. Utilizing crowdsourcing technology, we compared ratings by experts and crowdworkers of social communication behaviors in videos of 18-month-old children. Of note, 563 crowdworkers and 24 expert responses were collected in approximately 7 hr and 57 days, respectively. Summed scores of social communication behaviors observed by crowdworkers showed high correlation to those of experts. These data introduce a novel and perhaps efficient way in which to examine of social communication impairments in toddlers. Autism Research 2018, 11: 1629-1634. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This research compared crowdsourced assessments of social communication behaviors to assessments by experts, for toddlers whose behaviors ranged in severity from typical to atypical. Results showed that crowdsourced rankings of social communication behavior significantly correlate with those of experts.


Subject(s)
Autism Spectrum Disorder/complications , Autism Spectrum Disorder/diagnosis , Crowdsourcing/methods , Social Communication Disorder/complications , Female , Humans , Infant , Male , Reproducibility of Results , Risk
5.
Autism Res ; 11(9): 1300-1310, 2018 09.
Article in English | MEDLINE | ID: mdl-30107084

ABSTRACT

Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated with ADNP may differ from that of individuals with another ASD-associated single gene disruption or with ASD without a known genetic cause. The current study examined the ASD phenotype in a sample of representative youth with ADNP disruptions. Participants (N = 116, ages 4-22 years) included a cohort with ADNP mutations (n = 11) and three comparison groups with either a mutation to CHD8 (n = 11), a mutation to another ASD-associated gene (other mutation; n = 53), or ASD with no known genetic etiology (idiopathic ASD; n = 41). As expected, individuals with ADNP disruptions had higher rates of ID but less severe social affect symptoms compared to the CHD8 and Idiopathic ASD groups. In addition, verbal intelligence explained more variance in social impairment in the ADNP group compared to CHD8, other mutation, and idiopathic ASD comparison groups. Restricted and repetitive behaviors in the ADNP group were characterized by high levels of stereotyped motor behaviors, whereas the idiopathic ASD group showed high levels of restricted interests. Taken together, these results underscore the role of ADNP in cognitive functioning and suggest that social impairments in ADNP syndrome are consistent with severity of verbal deficits. Autism Res 2018, 11: 1300-1310. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Disruptions to the ADNP gene (i.e., ADNP syndrome) have been associated with autism spectrum disorder (ASD). This article describes intellectual disability, mild social difficulties, and severe repetitive motor movements in a group of 11 youth with ADNP Syndrome. We found lower rates of ASD than previously reported. Verbal skills explained individual variability in social impairment. This pattern suggests that the ADNP gene is primarily associated with learning and memory, and level of social difficulties is consistent with level of verbal impairment.


Subject(s)
Autism Spectrum Disorder/physiopathology , Homeodomain Proteins/genetics , Intellectual Disability/complications , Nerve Tissue Proteins/genetics , Phenotype , Social Communication Disorder/complications , Stereotypic Movement Disorder/complications , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Female , Humans , Intellectual Disability/genetics , Intellectual Disability/physiopathology , Male , Social Communication Disorder/genetics , Social Communication Disorder/physiopathology , Stereotypic Movement Disorder/genetics , Stereotypic Movement Disorder/physiopathology , Syndrome , Young Adult
6.
Autism Res ; 11(7): 979-988, 2018 07.
Article in English | MEDLINE | ID: mdl-29761934

ABSTRACT

The aim of the present study was to assess whether the nature of the main autistic features (i.e., social communication problems and repetitive and restrictive patterns) are better conceptualized as dimensional or categorical in a school population. The study was based on the teacher ratings of two different age groups: 2,585 children between the ages of 10 and 12 (Primary Education; PE) and 2,502 children between the ages of 3 and 5 (Nursery Education; NE) from 60 mainstream schools. The analyses were based on Factor Mixture Analysis, a novel approach that combines dimensional and categorical features and prevents spurious latent classes from appearing. The results provided evidence of the dimensionality of autism spectrum symptoms in a school age population. The distribution of the symptoms was strongly and positively skewed but continuous; and the prevalence of high-risk symptoms for autism spectrum disorders (ASD) and social-pragmatic communication disorder (SCD) was 7.55% of NE children and 8.74% in PE. A categorical separation between SCD and ASD was not supported by our sample. In view of the results, it is necessary to establish clear cut points for detecting and diagnosing autism and to develop specific and reliable tools capable of assessing symptom severity and functional consequences in children with ASD. Autism Res 2018, 11: 979-988. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The results of the present study suggest that the distribution of autism spectrum symptoms are continuous and dimensional among school-aged children and thus support the need to establish clear cut-off points for detecting and diagnosing autism. In our sample, the prevalence of high-risk symptoms for autism spectrum disorders and social-pragmatic communication disorder was around 8%.


Subject(s)
Autism Spectrum Disorder/complications , Autism Spectrum Disorder/physiopathology , Social Communication Disorder/complications , Social Communication Disorder/diagnosis , Stereotypic Movement Disorder/complications , Stereotypic Movement Disorder/diagnosis , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , School Teachers , Severity of Illness Index , Social Communication Disorder/physiopathology , Spain , Stereotypic Movement Disorder/physiopathology
7.
Health Informatics J ; 24(2): 182-193, 2018 06.
Article in English | MEDLINE | ID: mdl-27694616

ABSTRACT

Assistive technologies can improve the quality of life of people diagnosed with different forms of social communication disorders. We report on the design and evaluation of an affective avatar aimed at engaging the user in a social interaction with the purpose of assisting in communication therapies. A human-avatar taxonomy is proposed to assist the design of affective avatars aimed at addressing social communication disorder. The avatar was evaluated with 30 subjects to assess how effectively it conveys the desired emotion and elicits empathy from the user. Results provide evidence that users become used to the avatar after a number of interactions, and they perceive the defined behavior as being logical. The users' interactions with the avatar entail affective reactions, including the mimic emotions that users felt, and establish a preliminary ground truth about prototypic empathic interactions with avatars that is being used to train learning algorithms to support social communication disorder evaluation.


Subject(s)
Empathy , Social Communication Disorder/psychology , Virtual Reality , Adult , Affect , Female , Humans , Internet , Male , Quality of Life/psychology , Social Communication Disorder/complications , User-Computer Interface
8.
Mol Autism ; 8: 58, 2017.
Article in English | MEDLINE | ID: mdl-29090080

ABSTRACT

BACKGROUND: Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region. METHODS: We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires. RESULTS: Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies. CONCLUSIONS: Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.


Subject(s)
Autism Spectrum Disorder/genetics , Chromosomes, Human, Pair 22 , Activities of Daily Living , Adolescent , Adult , Autism Spectrum Disorder/complications , Autism Spectrum Disorder/diagnosis , Catechol O-Methyltransferase/genetics , Child , Child, Preschool , Chromosome Deletion , Cohort Studies , Female , Gene Duplication , Humans , Infant , Infant, Newborn , Male , Nuclear Proteins/genetics , Oligonucleotide Array Sequence Analysis , Psychometrics , Risk , Social Communication Disorder/complications , Social Communication Disorder/diagnosis , Young Adult
9.
Acta Neuropsychiatr ; 29(6): 374-381, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28393745

ABSTRACT

OBJECTIVE: Recent studies have detected similarities between autism spectrum disorder and schizophrenia. We investigated structural abnormalities associated with autistic-like traits in patients with schizophrenia by voxel-based morphometry. METHODS: Patients with schizophrenia and healthy subjects were evaluated by the adult version of the social responsiveness scale (SRS-A), which is sensitive to autistic traits and symptoms even under subthreshold conditions, and magnetic resonance imaging. RESULTS: There were significant decreases in the anterior cingulate cortex, bilateral hippocampi, cerebellums, and right insula of patients with schizophrenia, compared with healthy subjects. We found significant negative correlations of the social communication and interaction (SCI) score, a subscale of SRS-A, with grey matter volume in the left posterior superior temporal region of schizophrenia patients. When subscales of SCI were examined separately in schizophrenic patients, negative correlations were observed between the social cognition score and the volumes of the left posterior superior temporal region, and between social motivation and the posterior cingulate cortex. CONCLUSION: We found significant negative correlation between the SCI score and the grey matter volume in the left posterior superior temporal region of schizophrenia patients. This area was the region affected in previous studies of autistic spectrum disorders. Further, this area was associated with the theory of mind. Schizophrenia patients not necessarily show the impairment of SCI, nor this correlated region was not always the point with schizophrenia-specific change. However, we reveal the relationship between the left posterior superior temporal gyrus and the severity of the SCI in schizophrenia by using with SRS-A.


Subject(s)
Brain/pathology , Gray Matter/pathology , Interpersonal Relations , Schizophrenia/pathology , Schizophrenic Psychology , Adult , Brain/diagnostic imaging , Female , Gray Matter/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Schizophrenia/complications , Schizophrenia/diagnostic imaging , Social Behavior , Social Communication Disorder/complications
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