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The relationship between adaptive functioning and autism symptomatology was examined in 1,089 verbal youths with ASD examining results on Vineland-II, IQ, and measures of ASD severity. Strong positive relationships were found between Vineland subscales and IQ. Vineland Composite was negatively associated with age. IQ accounted a significant amount of the variance in overall adaptive skills (55%) beyond age and ASD severity. Individuals with ASD demonstrated significant adaptive deficits and negligible associations were found between the level of autism symptomatology and adaptive behavior. The results indicate that IQ is a strong predictor of adaptive behavior, the gap between IQ and adaptive impairments decreases in lower functioning individuals with ASD, and older individuals have a greater gap between IQ and adaptive skills.

Functional magnetic resonance imaging of brain responses to biological motion in children with autism spectrum disorder (ASD), unaffected siblings (US) of children with ASD, and typically developing (TD) children has revealed three types of neural signatures: (i) state activity, related to the state of having ASD that characterizes the nature of disruption in brain circuitry; (ii) trait activity, reflecting shared areas of dysfunction in US and children with ASD, thereby providing a promising neuroendophenotype to facilitate efforts to bridge genomic complexity and disorder heterogeneity; and (iii) compensatory activity, unique to US, suggesting a neural system—level mechanism by which US might compensate for an increased genetic risk for developing ASD. The distinct brain responses to biological motion exhibited by TD children and US are striking given the identical behavioral profile of these two groups. These findings offer far-reaching implications for our understanding of the neural systems underlying autism.

Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods We ascertained individuals with 3q29 deletion syndrome (3q29Del, “cases,” n  = 93, 58.1% male) and typically developing controls ( n  = 64, 51.6% male) through the 3q29 registry ( https://3q29deletion.patientcrossroads.org ). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n  = 48 cases, 56 controls), Social Communication Questionnaire ( n  = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire ( n  = 24 cases, 35 controls), and Achenbach Behavior Checklists ( n  = 48 cases, 57 controls). Results 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p  < 2.2E− 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p  = 4.78E− 05) than in males (OR = 24.6, p  = 6.06E− 09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p  = 2.16E− 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p  = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales ( p  < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD.

Purpose of Review The goal of this paper is to provide an overview of profiles of adaptive behavior in autism spectrum disorder and highlight the importance of these everyday skills in optimizing self-sufficiency throughout life. Recent Findings Research has clearly confirmed that adaptive deficits exist in ASD, particularly in social skills. These impairments are highly associated with co-occurring conditions such as executive functioning impairments, psychiatric conditions, and even psychosis. There tends to be a discrepancy between intellectual capacity and adaptive functioning, particularly in autistic individuals without cognitive and language delays, with this gap widening between childhood and adulthood. Summary Although cognition and language skills are associated with good outcome in ASD, they are insufficient in the absence of intact adaptive behavior. There is a critical need to emphasize the importance of adaptive functioning in diagnostic evaluations and treatment/intervention programs to ensure that every autistic individual has the potential for success.

Background 3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes. Methods We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR). Discussion The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of the disorder. Our project describes the protocol for a prospective study of the behavioral and clinical phenotype associated with 3q29 deletion syndrome. The paradigm described here could easily be adapted to study additional CNV or single gene disorders with high risk for neuropsychiatric phenotypes, and/or transferred to other study sites, providing a means for data harmonization and cross-disorder analysis.

Background The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. Methods Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. Results Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p  = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p  = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p  = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. Limitations There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. Conclusions 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services.

We conducted a comprehensive review and meta-analysis of research regarding feeding problems and nutrient status among children with autism spectrum disorders (ASD). The systematic search yielded 17 prospective studies involving a comparison group. Using rigorous meta-analysis techniques, we calculated the standardized mean difference (SMD) with standard error and corresponding odds ratio (OR) with 95 % confidence intervals (CI). Results indicated children with ASD experienced significantly more feeding problems versus peers, with an overall SMD of 0.89 (0.08) and a corresponding OR of 5.11, 95 % CI 3.74–6.97. Nutrient analyses indicated significantly lower intake of calcium (SMD: −0.65 [0.29]; OR: 0.31, 95 % CI 0.11–0.85) and protein (SMD: −0.58 [0.25]; OR: 0.35, 95 % CI: 0.14–0.56) in ASD. Future research must address critical questions regarding the cause, long-term impact, and remediation of atypical feeding in this population.

A practical guide to adaptive behaviors across a range of neurodevelopmental disorders Adaptive behavior assessment measures independent living skills, including communication, social skills, personal care, and practical work skills. For individuals with intellectual disabilities, evaluation of these skills is a critical tool for measuring eligibility and can identify specific skills that must be learned before effective educational interventions can be implemented. Essentials of Adaptive Behavior Assessment of Neurodevelopmental Disorders describes the role of adaptive behavior in assessment and treatment, and provides clear guidance for measurement. Case samples provide real-world illustration of behaviors and assessment, and systematic comparison of various measures are presented and explained to better inform planning. Individual chapters outline specific adaptive behaviors across a range of neurodevelopmental disorders, giving clinicians, practitioners, students, and researchers a better understanding of diagnostic differentials and how to place independent skill programming in treatment and intervention. * Plan intervention and treatment based on accessible measurement guidelines across a range of disorders * Gain a deeper understanding of adaptive functioning specific to ADHD, autism spectrum disorders, disruptive behavior disorders, and genetic disorders * Compare and contrast current measures to evaluate their strengths, weaknesses, and areas of overlap * Quickly locate essential information with Rapid Reference and Caution boxes For individuals with neurodevelopmental disorders, adaptive behaviors are the keys to independence; without them, these individuals will perpetually struggle with achieving optimum independence without the basic skills needed to function at home, in school, and in the community. Assessment allows these skills to be factored in to treatment and intervention planning, and can help improve the outcomes of other intervention methods. Essentials of Adaptive Behavior Assessment of Neurodevelopmental Disorders clarifies the assessment of these important behaviors, helping clinicians make more informed decisions around diagnosis, education, and treatment planning.

The relationship between adaptive functioning (\"ability\") and autism symptomatology (\"disability\") remains unclear, especially for higher functioning individuals with autism spectrum disorder (ASD). This study investigates \"ability\" and \"disability\" using the \"Vineland\" and \"Autism Diagnostic Observation Schedule\" (ADOS), respectively, in two clinical samples of children with ASD. Participants included 187 males with VIQ greater than 70. Vineland scores were substantially below VIQ, highlighting the magnitude of adaptive impairments despite cognitive potential. A weak relationship was found between ability and disability. Negative relationships were found between age and Vineland scores and no relationships were found between age and ADOS scores. Positive relationships were found between IQ and Vineland Communication. Results stress the need for longitudinal studies on ability and disability in ASD and emphasize the importance of adaptive skills intervention.

Individuals with higher functioning autism (HFA) fail to translate their cognitive potential into real-life adaptation, and the severity of their symptoms is considerable despite their intellectual ability. This paper reports on a subsample from a larger study (A. Klin et al., in press) analyzed here by autism spectrum subtypes. It focuses on the nature of ability and disability in HFA and Asperger syndrome (AS) in relation to age and IQ. Participants included 32 individuals with autism and 35 with AS. Individuals with AS had significantly higher Verbal IQ scores and less symptomatology than individuals with autism, but their Vineland scores were equally impaired, highlighting the adaptive deficits in ASD regardless of classification. No relationship was found between adaptive functioning and symptom severity.