Universal screening is recommended to reduce the age of diagnosis for autism spectrum disorder (ASD). However, there are insufficient data on children who screen negative and no study of outcomes ...from truly universal screening. With this study, we filled these gaps by examining the accuracy of universal screening with systematic follow-up through 4 to 8 years.
Universal, primary care-based screening was conducted using the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F) and supported by electronic administration and integration into electronic health records. All children with a well-child visit (1) between 16 and 26 months, (2) at a Children's Hospital of Philadelphia site after universal electronic screening was initiated, and (3) between January 2011 and July 2015 were included (
= 25 999).
Nearly universal screening was achieved (91%), and ASD prevalence was 2.2%. Overall, the M-CHAT/F's sensitivity was 38.8%, and its positive predictive value (PPV) was 14.6%. Sensitivity was higher in older toddlers and with repeated screenings, whereas PPV was lower in girls. Finally, the M-CHAT/F's specificity and PPV were lower in children of color and those from lower-income households.
Universal screening in primary care is possible when supported by electronic administration. In this "real-world" cohort that was systematically followed, the M-CHAT/F was less accurate in detecting ASD than in previous studies. Disparities in screening rates and accuracy were evident in traditionally underrepresented groups. Future research should focus on the development of new methods that detect a greater proportion of children with ASD and reduce disparities in the screening process.
Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. ...One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen.
Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record.
Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral.
We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.
The lives of caregivers can be deeply impacted by having a child with a developmental disability (DD). To offset those impacts, caregivers may engage in accommodations, or strategies to bolster ...everyday functioning. The nature and extent of these accommodations can provide insight into how the family is doing and what supports are needed from a family-centered perspective. This paper presents the development and preliminary validation of the Accommodations & Impact Scale for Developmental Disabilities (AISDD). The AISDD is a rating scale that measures day-to-day accommodations and impacts of raising a child with a DD. A sample of 407 caregivers of youth with DDs (M
age
= 11.7 years; 63% males) completed the AISDD, along with measures of caregiver strain, daily challenges, child adaptive behavior, and behavior and emotional regulation. The AISDD is a unidimensional, 19-item scale with excellent internal consistency (ordinal alpha = .93) and test–retest (ICC = .95) reliability. Scores were normally distributed and sensitive to age (r = − .19), diagnosis (ASD + ID > ASD > ID), adaptive functioning (r = − .35), and challenging behaviors (r = .57). Finally, the AISDD showed excellent convergent validity with similar measures of accommodations and impacts. These findings support the use of the AISDD as a valid and reliable tool for measuring accommodations among caregivers of individuals with DDs. This measure shows promise in its ability to identify which families may need additional support for their children.
Bioelectric signaling, intercellular communication facilitated by membrane potential and electrochemical coupling, is emerging as a key regulator of animal development. Gap junction (GJ) channels can ...mediate bioelectric signaling by creating a fast, direct pathway between cells for the movement of ions and other small molecules. In vertebrates, GJ channels are formed by a highly conserved transmembrane protein family called the connexins. The connexin gene family is large and complex, creating challenges in identifying specific connexins that create channels within developing and mature tissues. Using the embryonic zebrafish neuromuscular system as a model, we identify a connexin conserved across vertebrate lineages, gjd4, which encodes the Cx46.8 protein, that mediates bioelectric signaling required for slow muscle development and function. Through mutant analysis and in vivo imaging, we show that gjd4/Cx46.8 creates GJ channels specifically in developing slow muscle cells. Using genetics, pharmacology, and calcium imaging, we find that spinal-cord-generated neural activity is transmitted to developing slow muscle cells, and synchronized activity spreads via gjd4/Cx46.8 GJ channels. Finally, we show that bioelectrical signal propagation within the developing neuromuscular system is required for appropriate myofiber organization and that disruption leads to defects in behavior. Our work reveals a molecular basis for GJ communication among developing muscle cells and reveals how perturbations to bioelectric signaling in the neuromuscular system may contribute to developmental myopathies. Moreover, this work underscores a critical motif of signal propagation between organ systems and highlights the pivotal role of GJ communication in coordinating bioelectric signaling during development.
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•Developing slow muscle requires the connexin gjd4 for gap junction communication•gjd4 is required for neural activity to propagate among developing slow muscle cells•Mutations in gjd4 disrupt slow muscle calcium synchronization and behavior•Disrupting neuromuscular signaling results in structural defects in slow muscle
Lukowicz-Bedford et al. show that a conserved connexin, gjd4, is required for gap junction communication among developing slow muscle cells. When disrupted, defects in muscle function, myosin organization, and behavior arise. The findings reveal a role for gap-junction-mediated bioelectric signaling during vertebrate neuromuscular development.
Most autistic adults struggle with mental health problems, and traditional mental
health services generally do not meet their needs. This study used qualitative
methods to identify ways to improve ...community mental health services for
autistic adults for treatment of their co-occurring psychiatric conditions. We
conducted semistructured, open-ended interviews with 22 autistic adults with
mental healthcare experience, 44 community mental health clinicians, and 11
community mental health agency leaders in the United States. The participants
identified clinician-, client-, and systems-level barriers and facilitators to
providing quality mental healthcare to autistic adults. Across all three
stakeholder groups, most of the reported barriers involved clinicians’ limited
knowledge, lack of experience, poor competence, and low confidence working with
autistic adults. All three groups also discussed the disconnect between the
community mental health and developmental disabilities systems, which can result
in autistic adults being turned away from services when they contact the mental
health division and disclose their autism diagnosis during the intake process.
Further efforts are needed to train clinicians to work more effectively with
autistic adults and to increase coordination between the mental health and
developmental disabilities systems.
Lay Abstract
Most autistic adults struggle with mental health problems, such as anxiety
and depression. However, they often have trouble finding effective mental
health treatment in their community. The goal of this study was to identify
ways to improve community mental health services for autistic adults. We
interviewed 22 autistic adults with mental healthcare experience, 44
community mental health clinicians (outpatient therapists, case managers,
and intake coordinators), and 11 community mental health agency leaders in
the United States. Our participants identified a variety of barriers to
providing quality mental healthcare to autistic adults. Across all three
groups, most of the reported barriers involved clinicians’ limited
knowledge, lack of experience, poor competence, and low confidence working
with autistic adults. All three groups also discussed the disconnect between
the community mental health and developmental disabilities systems and the
need to improve communication between these two systems. Further efforts are
needed to train clinicians and provide follow-up consultation to work more
effectively with autistic adults. A common suggestion from all three groups
was to include autistic adults in creating and delivering the clinician
training. The autistic participants provided concrete recommendations for
clinicians, such as consider sensory issues, slow the pace, incorporate
special interests, use direct language, and set clear expectations. Our
findings also highlight a need for community education about co-occurring
psychiatric conditions with autism and available treatments, in order to
increase awareness about treatment options.
Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments ...and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA.
Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria. Clinical impressions of ASD diagnostic category using the ADOS and DSM-IV criteria were compared to ADOS-2 and DSM-5 criteria. T-tests compared cognitive, adaptive, SES and prenatal vs. postnatal diagnoses between ASD and no ASD groups.
ASD rates in these research cohorts were 10% in XXY/KS, 38% in XYY, and 52% in XXYY using ADOS-2/DSM-5, and were not statistically different compared to DSM-IV criteria. In XYY and XXYY, the ASD group had lower verbal IQ and adaptive functioning compared to those without ASD. Many children without ASD still showed some social difficulties.
ASD rates in males with SCA are higher than reported for the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population (1 in 42 males, CDC 2010). ASD should be considered when evaluating social difficulties in SCA. Studies of SCA and Y-chromosome genes may provide insight into male predominance in idiopathic ASD.
BACKGROUND.
The American Cancer Society, the Centers for Disease Control and Prevention, the National Cancer Institute, and the North American Association of Central Cancer Registries collaborate ...annually to provide updated information on cancer occurrence and trends in the U.S. The 2007 report features a comprehensive compilation of cancer information for American Indians and Alaska Natives (AI/AN).
METHODS.
Cancer incidence data were available for up to 82% of the U.S. population. Cancer deaths were available for the entire U.S. population. Long‐term (1975 through 2004) and fixed‐interval (1995 through 2004) incidence and mortality trends were evaluated by annual percent change using regression analyses (2‐sided P < .05). Cancer screening, risk factors, socioeconomic characteristics, incidence data, and stage were compiled for non‐Hispanic whites (NHW) and AI/AN across 6 regions of the U.S.
RESULTS.
Overall cancer death rates decreased by 2.1% per year from 2002 through 2004, nearly twice the annual decrease of 1.1% per year from 1993 through 2002. Among men and women, death rates declined for most cancers. Among women, lung cancer incidence rates no longer were increasing and death rates, although they still were increasing slightly, were increasing at a much slower rate than in the past. Breast cancer incidence rates in women decreased 3.5% per year from 2001 to 2004, the first decrease observed in 20 years. Colorectal cancer incidence and death rates and prostate cancer death rates declined, with colorectal cancer death rates dropping more sharply from 2002 through 2004. Overall, rates for AI/AN were lower than for NHW from 1999 through 2004 for most cancers, but they were higher for cancers of the stomach, liver, cervix, kidney, and gallbladder. Regional analyses, however, revealed high rates for AI/AN in the Northern and Southern Plains and Alaska. For cancers of the breast, colon and rectum, prostate, and cervix, AI/AN were less likely than NHW to be diagnosed at localized stages.
CONCLUSIONS.
For all races/ethnicities combined in the U.S., favorable trends in incidence and mortality were noted for lung and colorectal cancer in men and women and for breast cancer in women. For the AI/AN population, lower overall cancer incidence and death rates obscured important variations by geographic regions and less favorable healthcare access and socioeconomic status. Enhanced tobacco control and cancer screening, especially in the Northern and Southern Plains and Alaska, emerged as clear priorities. Cancer 2007;110:2119–52. Published 2007 by the American Cancer Society.
The American Cancer Society, the Centers for Disease Control and Prevention, the National Cancer Institute, and the North American Association of Central Cancer Registries collaborate annually to provide updated information on cancer occurrence and trends in the U.S. The 2007 report features a comprehensive compilation of cancer information for American Indians and Alaska Natives.
An essential determinant of a neuron's functionality is its neurotransmitter phenotype. We previously identified a defined subpopulation of cholinergic neurons required for social orienting behavior ...in zebrafish. We transcriptionally profiled these neurons and discovered that they are capable of synthesizing both acetylcholine and GABA. We also established a constellation of transcription factors and neurotransmitter markers that can be used as a "transcriptomic fingerprint" to recognize a homologous neuronal population in another vertebrate. Our results suggest that this transcriptomic fingerprint and the cholinergic-GABAergic neuronal subtype that it defines are evolutionarily conserved.
The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), Module 4 is considered a “gold-standard” instrument for diagnosing autism spectrum disorder (ASD) in adults. Although the ADOS-2 ...shows good sensitivity and specificity in lab-based settings, it is unknown whether these results hold in community clinics that serve a more psychiatrically impaired population. This study is the first to evaluate the diagnostic accuracy of the ADOS-2 among adults in community mental health centers (n = 75). The ADOS-2 accurately identified all adults with ASD; however, it also had a high rate of false positives among adults with psychosis (30%). Findings serve as a reminder that social communication difficulties measured by the ADOS-2 are not specific to ASD, particularly in clinically complex settings.
Cognitive–behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians’ use of CBT ...with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (
p
= .001), more favorable attitudes (
p
< .001), greater normative pressure (
p
< .001), and higher self-efficacy (
p
< .001) to start CBT with non-autistic adults than with autistic adults. The only significant predictor of intentions to begin CBT with clients with anxiety or depression was clinicians’ attitudes (
p
< .001), with more favorable attitudes predicting stronger intentions. These findings are valuable for designing effective, tailored implementation strategies to increase clinicians’ adoption of CBT for autistic adults.
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