Clinical and Psychosocial Outcomes Associated With a Tele-behavioral Health Platform for Families: Retrospective Study.

BACKGROUND: The burden of pediatric mental illness in the United States has steadily worsened over the past decade. A recent increase in employer-sponsored behavioral health programs has focused on the needs of the general population. However, these programs do not provide the specialty mental health care required for children, adolescents, and their families. OBJECTIVE: This study aimed to evaluate the effects of a technology-enabled pediatric and family behavioral health service on clinical outcomes among children and caregiver strain. The service is available to commercially insured populations and provides educational content; tele-behavioral health care, including coaching, therapy, and psychiatry; and care escalation and coordination. METHODS: A retrospective cohort analysis of members using the service between February and September 2022 was conducted. Clinical outcomes for children and their caregivers were collected using the Pediatric Symptom Checklist-17 (PSC-17), Generalized Anxiety Disorder 7-item (GAD-7), Patient Health Questionnaire 8-item (PHQ-8), and Caregiver Strain Questionnaire-Short Form 7 (CGSQ-SF7). Rates of reliable improvement were determined by calculating the reliable change index for each outcome. Paired, 2-tailed t tests were used to evaluate significant changes in assessment scores at follow-up compared to baseline. RESULTS: Of the 4139 participants who enrolled with the service, 48 (1.2%) were referred out for more intensive care, 2393 (57.8%) were referred to coaching, and 1698 (41%) were referred to therapy and psychiatry. Among the 703 members who completed the intervention and provided pre- and postintervention outcomes data, 386 (54.9%) used psychoeducational content, 345 (49.1%) received coaching, and 358 (50.9%) received therapy and psychiatry. In coaching, 75% (183/244) of participants showed reliable improvement on the PSC-17 total score, 72.5% (177/244) on the PSC-17 internalizing score, and 31.5% (105/333) on the CGSQ-SF7 total score (average improvement: PSC-17 total score, 3.37 points; P<.001; PSC-17 internalizing score, 1.58 points; P<.001; and CGSQ-SF7 total score, 1.02 points; P<.001). In therapy and psychiatry, 68.8% (232/337) of participants showed reliable improvement on the PSC-17 total score, 70.6% (238/337) on the PSC-17 internalizing score, 65.2% (219/336) on the CGSQ-SF7 total score, 70.7% (82/116) on the GAD-7 score, and 67.5% (77/114) on the PHQ-8 score (average improvement: PSC-17 total score, 3.16 points; P<.001; PSC-17 internalizing score, 1.66 points; P<.001; CGSQ-SF7 total score, 1.06 points; P<.001; GAD-7 score, 3.00 points; P<.001; and PHQ-8 score, 2.91 points; P<.001). CONCLUSIONS: Tele-behavioral health offerings can be effective in improving caregiver strain and psychosocial functioning and depression and anxiety symptoms in a pediatric population. Moreover, these digital mental health offerings may provide a scalable solution to children and their families who lack access to essential pediatric mental health services.

Validity and Cutoff Score of the Autism Mental Status Exam for an Autism Spectrum Disorder Diagnosis in Chinese Children.

The Autism Mental Status exam (AMSE) has demonstrated excellent sensitivity and specificity in Western high-risk population with suspected autism spectrum disorder (ASD). This study aimed to evaluate the psychometric properties of the AMSE in a sample of high-risk Chinese children, and to determine the optimal cutoff score of the Chinese version of the AMSE in supporting ASD diagnosis. 66 young children aged from 2 to 11 years with suspected ASD were enrolled in the present study. A diagnosis of ASD or non-ASD was determined by a Best Estimate Diagnosis protocol according to the DSM-5 criteria. Receiver operating characteristic (ROC) curve analysis was conducted to assess the validity of the AMSE and search for the most effective cutoff score. The ROC curve analysis yields the area under the ROC curve of 0.98 which represents excellent diagnostic accuracy. Findings indicate the optimal cutoff score of the Chinese version of the AMSE was estimated as 6, producing the highest sensitivity of 98% and a specificity of 87%. Preliminary findings of the study suggest the AMSE has promising psychometric properties as an assessment tool for identifying ASD symptoms and supporting diagnostic decision-making in high-risk Chinese children population.

Feasibility and Acceptability of Delivering Pivotal Response Treatment for Autism Spectrum Disorder via Telehealth: Pilot Pre-Post Study.

BACKGROUND: Pivotal response treatment (PRT), an evidence-based and parent-delivered intervention, is designed to improve social communication in autistic individuals. OBJECTIVE: The aim of this study was to assess the feasibility, acceptability, and clinical effects of an online model of PRT delivered via MindNest Health, a telehealth platform that aims to provide self-directed and engaging online modules, real-time coaching and feedback, and accessible stepped-care to large populations of parents seeking resources for their autistic children. METHODS: Male and female autistic children, aged 2-7 years with single-word to phrase-level speech, and their parents were eligible to participate in the study. Families were randomized to the online parent training condition or control condition. The online component of the intervention consisted of eight 20-minute online courses of content describing parent training principles in PRT. Four 1-hour videoconferences were held after course 1, course 3, course 5, and course 8. Parents were given 1-2 weeks to complete each course. Parents completed the Client Credibility Questionnaire (CCQ) at week 2 and at the study endpoint, as well as the Behavioral Intervention Rating Scale (BIRS) at the study endpoint to assess parental expectancies, and treatment acceptability and effectiveness. RESULTS: Nine of 14 participants completed the study curriculum in the online parent training condition, and 6 of 12 participants completed the control condition. Thus, a total of 58% (15/26) participants across both groups completed the study curriculum by study closure. Within the online parent training condition, there was a significant increase in mean CCQ total scores, from 25.38 (SD 3.25) at baseline to 27.5 (SD 3.74) at study endpoint (P=.04); mean CCQ confidence scores, from 6.0 (SD 1.07) at baseline to 6.75 (SD 0.89) at study endpoint (P=.02); and mean CCQ other improvement scores, from 5.25 (SD 0.89) at baseline to 6.25 (SD 1.28) at study endpoint (P=.009). Within the control condition, a modest increase in mean CCQ scores was noted (Confidence, difference=+0.25; Recommend, difference=+0.25; Total Score, difference=+0.50), but the differences were not statistically significant (Confidence P=.38, Recommend P=.36, Total Score P=.43). Among the 11 parents who completed the BIRS at the study endpoint, 82% (n=9) endorsed that they slightly agree or agree with over 93% of the Acceptability factor items on the BIRS. CONCLUSIONS: The feasibility of this online treatment is endorsed by the high rate of online module completion and attendance to videoconferences within the online parent training group. Acceptability of treatment is supported by strong ratings on the CCQ and significant improvements in scores, as well as strong ratings on the BIRS. This study's small sample size limits the conclusions that can be drawn; however, the PRT MindNest Health platform holds promise to support parents of autistic children who are unable to access traditional, in-person parent-mediated interventions for their child.

Examining the Relationship Between Pediatric Behavioral Health and Parent Productivity Through a Parent-Reported Survey in the Time of COVID-19: Exploratory Study.

BACKGROUND: Pediatric behavioral health needs skyrocketed during the COVID-19 pandemic. Parents and caregivers lacked access to well-established tools to identify risk and protective factors while also experiencing decreased access to treatment options to meet their families' behavioral health needs. OBJECTIVE: The aim of this study is to investigate the associations of known pediatric behavioral health risk factors and parents' reports of workplace productivity. METHODS: A clinical research team at Brightline-a virtual, pediatric behavioral health solution-drew on standardized instruments to create a survey designed to understand pediatric behavioral health conditions, child stress, and family resilience and connection during the COVID-19 pandemic. Multivariable linear regression was used to characterize the relationship between these variables and parents' reports of workplace productivity. RESULTS: Participants (N=361) completed the survey between October 2020 and November 2021. In the multivariable model, higher pediatric stress and time spent managing children's behavioral health needs were associated with greater productivity loss among working parents, whereas higher family connection was associated with lower productivity loss. COVID-19 diagnoses among parents and dependents, financial impact of COVID-19 on households, and family resilience were not associated with parents' workplace productivity. CONCLUSIONS: This survey captured child stress, family connection, and productivity as reported by parents and caregivers during the COVID-19 pandemic. Exploratory studies are the first step in understanding the relationship between these variables. The results from this study can empower parents by providing insights to help manage their child's behavioral health concerns and identify pediatric behavioral health services to aid working parents who are caregivers.

Neurocognitive Outcomes from Memantine: A Pilot, Double-Blind, Placebo-Controlled Trial in Children with Autism Spectrum Disorder.

Objective: Studies interrogating therapeutics which alter the excitation-inhibition balance in the treatment of autism spectrum disorder (ASD) have reported mixed results on social and behavioral outcomes. Methods: The aim of this randomized, double-blind placebo-controlled pilot trial was to evaluate neurocognitive effects of memantine over a 24-week trial. Twenty-three children ages 6-12 years old with ASD were randomized to memantine or placebo. Primary outcomes included measures of apraxia and expressive language with evaluations at midpoint (week 12) and endpoint (week 24). Secondary outcomes included memory and adaptive behavior measures. Exploratory outcomes included changes in overall cognitive functioning and behavior (e.g., Aberrant Behavior Checklist). Results: Results suggest that memantine was well-tolerated. Dropout rates were high across groups with only 14 participants completing the 6-month trial. Memantine was not associated with improvements in apraxia and expressive language. Treatment with memantine was associated with improvements in verbal recognition memory as measured by the Narrative Memory-Recognition (NEPSY-II) (F = 5.05, p = .03). In addition, exploratory analyses of changes in Intelligence quotient (IQ) suggest improvements on verbal IQ (d = 1.8). Conclusions: Results suggest future studies of memantine in ASD may benefit from shifting treatment targets from social and behavioral outcomes to exploration of effects of memantine on cognition, potentially as an adjunct to learning and educational interventions. ClinicalTrials.gov: NCT01372449.

Cognitive-behavioral therapy training for multidisciplinary inpatient psychiatric teams: A novel curriculum using animated simulations.

PROBLEM: Nurses assume primary responsibility teaching children self-management skills, yet few of them have formal training in evidence-based treatments such as cognitive-behavioral therapy (CBT). METHODS: We developed a novel CBT training curriculum specifically tailored for nurses and other child psychiatric inpatient team members. The curriculum was anchored in three components: (1) a structured manual; (2) instructional videos of common clinical scenarios using animated simulations; and (3) interactive role-play exercises. The CBT curriculum was implemented through small group training sessions. We then conducted focus group sessions with the 20 participants to assess change in self-reported knowledge of, and utilization of CBT skills in clinical practice. FINDINGS: The curriculum was well received by staff members, who found its content relevant and applicable to their daily inpatient work. Staff reported four main themes: (1) routine clinical care (feelings, challenges, and approaches); (2) CBT utility in practice; (3) CBT training components that facilitated learning of the discrete skills; and (4) professional development needs. CONCLUSIONS: We were able to implement the curriculum within the time and staffing constraints of a clinically active inpatient setting. Future refinements of the model will include videotaped interactions between expert clinicians and simulated patients in high acuity situations.

Tantrum Tool: Development and Open Pilot Study of Online Parent Training for Irritability and Disruptive Behavior.

Objectives: Parent management training is an effective treatment for disruptive behavior disorders but it is often underutilized in clinical settings. Access to care is limited due to logistical barriers as well as limited service availability. This study examines in an open trial the acceptability, feasibility, and clinical effects of a digital parent management training intervention that includes videoconference coaching, called "Tantrum Tool." Methods: Fifteen children, ages 3-9 years, participated in an open trial of an 8-week intervention. The primary symptom measure was the Disruptive Behavior Rating Scale (DBRS), and the secondary outcome measure was the Affective Reactivity Index (ARI) completed by the primary caregiver before and after treatment. Results: Treatment retention was high (80%), and parents reported a high level of satisfaction with the program. There was a significant reduction in the mean DBRS score from 13.5 ± 5.5 at baseline to 7.3 ± 3.4 at endpoint, p < 0.001. There was also a significant reduction in the mean ARI irritability score from 7.2 ± 2.6 at baseline to 3.75 ± 2.1 at endpoint, p < 0.01. Conclusions: This open pilot study supports the feasibility and acceptability of a digital parent training program for young children with disruptive behavior. Findings provide preliminary support for a clinically meaningful reduction of both disruptive behavior and irritability. Using the Tantrum Tool to deliver online treatment for children could increase access to first-line treatments for disruptive behavior and irritability in young children. ClinicalTrials.gov: NCT03697837.

Detecting Autism Spectrum Disorder in Children With ADHD and Social Disability.

Objective: The social disability associated with ADHD often makes diagnostic and treatment decision making challenging. This protocol investigates the test performance of the Autism Mental Status Exam (AMSE) in detecting autism spectrum disorder (ASD) in a sample of 45 children with ADHD and ASD symptomatology. The AMSE is a brief ASD diagnostic assessment administered in the context of a clinical exam. Method: All participants received a developmental evaluation, including the AMSE, followed by independent gold standard diagnostic assessments including the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). Results: Receiver operating characteristics (ROC) curve analysis indicated strong sensitivity and specificity in this population. Optimal cutoff scores are provided. Conclusion: The AMSE holds promise as a brief ASD assessment tool for children with ADHD and ASD symptomatology and as a guide for treatment and referral decisions at the point of care.

Evidence of Validity of the Autism Mental Status Examination (AMSE) in a Brazilian Sample.

This study investigated the psychometric properties of the Autism Mental Status Examination (AMSE) in a Brazilian sample of children and adolescents with autism spectrum disorder (ASD). A sample of 260 children and adolescents, comprising 56 (21.5%) females and 204 (78.5%) males, was assessed. The participants were submitted to both the childhood autism rating scale (CARS-BR) and the AMSE. The CARS-BR was used to estimate ASD severity and the cutoff point on the AMSE. Spearman's correlation test was employed to determine the correlation between the AMSE and CARS-BR scales. The cutoff values were calculated using the ROC (receiver operating characteristic) curve, identifying the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). The homogeneity of the items of the AMSE was determined using Cronbach´s alpha. The AMSE exhibited good internal consistency (0.74), sensitivity (0.91) and specificity (0.98); and high correlation with the CARS-BR (ρ = 0.91, p < 0.01). Preliminary results showed that the AMSE is a tool with good psychometric properties for ASD screening.

Sex-Differences in Children Referred for Assessment: An Exploratory Analysis of the Autism Mental Status Exam (AMSE).

The autism mental status exam is an eight-item observational assessment that structures the way we observe and document signs and symptoms of ASD. Investigations of test performance indicate strong sensitivity and specificity using gold-standard assessment as reference standard. This study aims to explore potential sex differences in AMSE test performance and observations of 123 children referred for autism assessment. Results indicates more language deficits in females with ASD than in males with ASD and less sensory symptoms in females compared to males with ASD. The AMSE performance is similar in identifying ASD and non-ASD in females compared to males. Less disruptive behaviors in females, might cause a need for a bigger hit to other areas of development to raise concern.

A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood.

Subspecialty physicians who have expertise in the diagnosis of autism spectrum disorder typically do not have the resources to administer comprehensive diagnostic observational assessments for patients suspected of ASD. The autism mental status exam (AMSE) is a free and brief eight-item observation tool that addresses this practice gap. The AMSE, designed by Child and Adolescent Psychiatrists, Developmental Behavioral Pediatricians and Pediatric Neurologists structures the observation and documentation of signs and symptoms of ASD and yields a score. Excellent sensitivity and specificity was demonstrated in a population of high-risk adults. This protocol now investigates the AMSE's test performance in a population of 45 young children age 18 months to 5 years with suspected ASD or social and communication concerns who are evaluated at an autism research center. Each subject received a developmental evaluation, including the AMSE, performed by a Child and Adolescent Psychiatrist, that was followed by independent standardized assessment using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. A Best Estimate Diagnosis protocol used DSM-5 criteria to ascertain a diagnosis of ASD or non-ASD. Receiver operating characteristic curve analysis was used to determine the AMSE cut point with the highest sensitivity and specificity. Findings indicate an optimized sensitivity of 94% and a specificity of 100% for this high prevalence group. Because of its high classification accuracy in this sample of children the AMSE holds promise as a tool that can support both diagnostic decision making and standardize point of care observational assessment of ASD in high risk children.

Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale.

Sensory reactivity is a new DSM-5 criterion for autism spectrum disorder (ASD). The current study aims to validate a clinician-administered sensory observation in ASD, the Sensory Processing Scale Assessment (SPS). The SPS and the Short Sensory Profile (SSP) parent-report were used to measure sensory reactivity in children with ASD (n = 35) and typically developing children (n = 27). Sixty-five percent of children with ASD displayed sensory reactivity symptoms on the SPS and 81.1 % on the SSP. SPS scores significantly predicted SSP scores. We next identified the five SPS tasks that best differentiated groups. Our results indicate that a combination of parent-report and at least the five most differentiating observational tasks may be most sensitive in identifying the presence of sensory reactivity issues.

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

[This corrects the article DOI: 10.1186/2040-2392-5-54.].

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.

BACKGROUND: SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders. Recently, de novo SCN2A mutations in autism spectrum disorder (ASD) have been identified. The current study characterizes a de novo splice site mutation in SCN2A that alters mRNA and protein products. CASE PRESENTATION: We describe results from clinical and genetic characterizations of a seven-year-old boy with ASD. Psychiatric interview and gold standard autism diagnostic instruments (ADOS and ADI-R) were used to confirm ASD diagnosis, in addition to performing standardized cognitive and adaptive functioning assessments (Leiter-R and Vineland Adaptive Behavior Scale), and sensory reactivity assessments (Sensory Profile and Sensory Processing Scales). Genetic testing by whole exome sequencing revealed four de novo events, including a splice site mutation c.476 + 1G > A in SCN2A, a missense mutation (c.2263G > A) causing a p.V755I change in the TLE1 gene, and two synonymous mutations (c.2943A > G in the BUB1 gene, and c.1254 T > A in C10orf68 gene). The de novo SCN2A splice site mutation produced a stop codon 10 amino acids downstream, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The participant met new DSM-5 criteria for ASD, presenting with social and communication impairment, repetitive behaviors, and sensory reactivity issues. The participant's adaptive and cognitive skills fell in the low range of functioning. CONCLUSION: This report indicates that a splice site mutation in SCN2A might be contributing to the risk of ASD. Describing the specific phenotype associated with SCN2A mutations might help to reduce heterogeneity seen in ASD.

The autism mental status exam: sensitivity and specificity using DSM-5 criteria for autism spectrum disorder in verbally fluent adults.

The phenotypic heterogeneity of adults suspected of autism spectrum disorder (ASD) requires a standardized diagnostic approach that is feasible in all clinical settings. The autism mental status exam (AMSE) is an eight-item observational assessment that structures the observation and documentation of social, communicative and behavioral signs and symptoms of ASD. Previous findings indicate high classification accuracy when compared to the autism diagnostic observation schedule in a non-stratified population of high-risk patients suspected of having ASD. This protocol investigates the sensitivity and specificity of AMSE scores using DSM-5 criteria for ASD in a sample of high-risk verbally fluent adults. Findings indicate an optimized sensitivity of 0.91 and a specificity of 0.93 for this group. Because of its high clinical utility, the AMSE holds promise as a diagnostic assessment tool that can support one's clinical diagnosis of ASD in high-risk adults.

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

BACKGROUND: Autism spectrum disorder (ASD) is now understood to have multiple genetic risk genes and one example is SHANK3. SHANK3 deletions and mutations disrupt synaptic function and result in Phelan-McDermid syndrome (PMS), which causes a monogenic form of ASD with a frequency of at least 0.5% of ASD cases. Recent evidence from preclinical studies with mouse and human neuronal models of SHANK3 deficiency suggest that insulin-like growth factor-1 (IGF-1) can reverse synaptic plasticity and motor learning deficits. The objective of this study was to pilot IGF-1 treatment in children with PMS to evaluate safety, tolerability, and efficacy for core deficits of ASD, including social impairment and restricted and repetitive behaviors. METHODS: Nine children with PMS aged 5 to 15 were enrolled in a placebo-controlled, double-blind, crossover design study, with 3 months of treatment with IGF-1 and 3 months of placebo in random order, separated by a 4-week wash-out period. RESULTS: Compared to the placebo phase, the IGF-1 phase was associated with significant improvement in both social impairment and restrictive behaviors, as measured by the Aberrant Behavior Checklist and the Repetitive Behavior Scale, respectively. IGF-1 was found to be well tolerated and there were no serious adverse events in any participants. CONCLUSIONS: This study establishes the feasibility of IGF-1 treatment in PMS and contributes pilot data from the first controlled treatment trial in the syndrome. Results also provide proof of concept to advance knowledge about developing targeted treatments for additional causes of ASD associated with impaired synaptic development and function.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

BACKGROUND: 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome. METHODS: A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G. RESULTS: Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency, including ASD, seizures and abnormal EEG, hypotonia, sleep disturbances, abnormal brain MRI, gastroesophageal reflux, and certain dysmorphic features. CONCLUSIONS: This study supports findings from previous research on the severity of intellectual, motor, and speech impairments seen in SHANK3 deficiency, and highlights the prominence of autism spectrum disorder in the syndrome. Limitations of existing evaluation tools are discussed, along with the need for natural history studies to inform clinical monitoring and treatment development in SHANK3 deficiency.

Functional deficits of the attentional networks in autism.

Attentional dysfunction is among the most consistent observations of autism spectrum disorders (ASD). However, the neural nature of this deficit in ASD is still unclear. In this study, we aimed to identify the neurobehavioral correlates of attentional dysfunction in ASD. We used the Attention Network Test-Revised and functional magnetic resonance imaging to examine alerting, orienting, and executive control functions, as well as the neural substrates underlying these attentional functions in unmedicated, high-functioning adults with ASD (n = 12) and matched healthy controls (HC, n = 12). Compared with HC, individuals with ASD showed increased error rates in alerting and executive control, accompanied by lower activity in the mid-frontal gyrus and the caudate nucleus for alerting, and by the absence of significant functional activation in the anterior cingulate cortex (ACC) for executive control. In addition, greater behavioral deficiency in executive control in ASD was correlated with less functional activation of the ACC. These findings of behavioral and neural abnormalities in alerting and executive control of attention in ASD may suggest core attentional deficits, which require further investigation.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.