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Timely diagnosis of autism spectrum disorder (ASD) is paramount to ensuring access to evidence-based intervention for individuals with ASD and their families, but the receipt of ASD diagnoses conti...

Objective The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient's treatment responses. Longitudinal assessment of each patient's response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy. Study design Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients' longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose. Results Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7-6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports. Conclusion Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.

Background Young adults with autism spectrum disorder’s (YA-ASD) ability to manage their healthcare needs is imperative as they transition to adult care. Method This study evaluated YA-ASD’s knowledge and care-seeking behavior for Physical and Mental Health (PH/MH) conditions. Caregivers (n = 501), of YA-ASD 16–25 years completed surveys. This study examined the extent to which YA-ASD could describe and seek care for their physical and mental health conditions (i.e. describing and care-seeking behaviors). Multivariate analyses further evaluated YA-ASD’s ability to and predictors of describing and care-seeking behaviors. Results YA-ASD had high rates of PH and MH conditions. Describing and careseeking behavior was significantly higher for PH versus MH conditions (p Regression analysis showed similar predictors for describing and care-seeking behaviors regardless of condition type. Intellectual disability and ASD-symptom severity were strong predictors (p Conclusions Results reveal a need for interventions focusing on empowering YAASD to manage MH conditions.

Profiles of scores on measures of intellectual functioning may aid in understanding etiology and developing targeted intervention in autism spectrum disorder (ASD) by providing details about specific phenotypes or subpopulations of ASD. Research investigating the relationship between ASD symptoms and intellectual functioning suggests that scores on the factors comprising global measures of intellectual functioning may be related to ASD symptoms (e.g., Joseph et al. J Child Psychol Psychiatry 43:807–821, 2002). Research has been limited by methodological problems, such as defining samples using unreliable subtypes of ASD and an overreliance on variable-centered methodological strategies. In the current paper, the authors provide a summary of existing research related to ASD symptoms and measures of intellectual functioning, review recent research identifying subpopulations in ASD, and provide goals for future areas of research in this area.

Objective The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient’s treatment responses. Longitudinal assessment of each patient’s response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy. Study design Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients’ longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose. Results Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7–6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports. Conclusion Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.

Autism spectrum disorder (ASD) diagnoses are made based on a pattern of behavioral symptoms, yet a growing body of research indicates that when, and indeed whether, an individual receives a diagnosis of ASD is influenced by myriad demographic factors including race, ethnicity, socioeconomic status (SES), and parental education level. The current manuscript provides a focused review of a subset of existing literature chosen to demonstrate how demographic factors may be related to the identification of individuals with ASD within the United States. Several possible explanations for existing disparities are discussed, along with clinical implications for professionals working with children from diverse backgrounds who are suspected of having ASD. Additional research in this area is needed to facilitate development of effective means to eliminate the diagnostic disparities.

The study examined teasing experiences among 74 individuals with autism spectrum disorder (ASD; M age = 115.7 months [9.6 years]; 83.8% male). Experiences were examined from parent, teacher, and child’s own perspectives. Factors potentially associated with being teased were investigated. Comparison data were ascertained on typically developing siblings ( n = 68; M age = 116.5 months [9.7 years]; 52.9% male). Select items on the Child Behavior Checklist 6–18 and the Teacher Report Form 6–18 were utilized to calculate the prevalence of being teased; qualitative data from a subgroup of verbally fluent children with ASD ( n = 50) were analyzed to provide child self-report teasing data. Children with ASD were more likely to be teased than their typically developing siblings. Characteristics that were significantly associated with being teased included higher cognitive functioning, less severe ASD symptomatology, and more time spent in inclusive educational settings. Clinical implications are discussed.

There is very little known about how sibling characteristics may influence the social functioning of a child with an autism spectrum disorder (ASD). The current study utilized data from the Simons Simplex Collection (SSC; n = 1355 children with ASD and 1351 siblings) to investigate this relationship. Phenotypic measures included (a) the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS), and the Vineland Adaptive Behavior Scales-II (VABS-II) for the probands with ASD and (b) the Social Communication Questionnaire (SCQ), the Social Responsiveness Scale (SRS), the Child Behavior Checklist (CBCL), and the VABS-II for siblings. Sibling data were first analyzed collectively, then analyzed by “older” and “younger” groups, relative to the age of the proband with ASD. Significant correlations were observed between probands’ and siblings’ VABS-II socialization domain scores; additional associations were noted between (a) probands’ VABS-II socialization domain scores and siblings’ CBCL internalizing subscale scores when only younger siblings were analyzed, and (b) probands’ ADOS Reciprocal Social Interaction (RSI) domain scores and the sibling SCQ scores when only older siblings were analyzed. These findings suggest that typically developing children may have a small yet meaningful influence on the prosocial development of their siblings with ASD. Limitations and future directions are discussed.

Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.