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A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability
Eur J Med Genet. 2022 Jan 10:104423. doi: 10.1016/j.ejmg.2022.104423. Online ahead of print.
ABSTRACT
Variants in CSDE1, a gene encoding a constrained RNA-binding protein, have recently been associated with a spectrum of neurodevelopmental conditions encompassing autism, seizures and ocular abnormalities. According to previously reported individuals, pathogenic variants in CSDE1 are typically associated with developmental delay and intellectual disability. Here, we report one individual with normal neurodevelopment and adult-onset neuropsychiatric features (i.e., acute psychosis) due to the novel de novo truncating variant c.2272C > T, p.(Gln758*) in CSDE1 (NM_001242891.1). Neuropsychological assessment confirmed deficits regarding verbal fluency, semantic memory, executive function and processing speed. Overall, our findings expand the phenotypic spectrum of CSDE1-related disorder towards the mild end.
PMID:35026469 | DOI:10.1016/j.ejmg.2022.104423
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Global, regional, and national burden of 12 mental disorders in 204 countries and territories, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019
Lancet Psychiatry. 2022 Jan 10:S2215-0366(21)00395-3. doi: 10.1016/S2215-0366(21)00395-3. Online ahead of print.
ABSTRACT
BACKGROUND: The mental disorders included in the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 were depressive disorders, anxiety disorders, bipolar disorder, schizophrenia, autism spectrum disorders, conduct disorder, attention-deficit hyperactivity disorder, eating disorders, idiopathic developmental intellectual disability, and a residual category of other mental disorders. We aimed to measure the global, regional, and national prevalence, disability-adjusted life-years (DALYS), years lived with disability (YLDs), and years of life lost (YLLs) for mental disorders from 1990 to 2019.
METHODS: In this study, we assessed prevalence and burden estimates from GBD 2019 for 12 mental disorders, males and females, 23 age groups, 204 countries and territories, between 1990 and 2019. DALYs were estimated as the sum of YLDs and YLLs to premature mortality. We systematically reviewed PsycINFO, Embase, PubMed, and the Global Health Data Exchange to obtain data on prevalence, incidence, remission, duration, severity, and excess mortality for each mental disorder. These data informed a Bayesian meta-regression analysis to estimate prevalence by disorder, age, sex, year, and location. Prevalence was multiplied by corresponding disability weights to estimate YLDs. Cause-specific deaths were compiled from mortality surveillance databases. The Cause of Death Ensemble modelling strategy was used to estimate death rate by age, sex, year, and location. The death rates were multiplied by the years of life expected to be remaining at death based on a normative life expectancy to estimate YLLs. Deaths and YLLs could be calculated only for anorexia nervosa and bulimia nervosa, since these were the only mental disorders identified as underlying causes of death in GBD 2019.
FINDINGS: Between 1990 and 2019, the global number of DALYs due to mental disorders increased from 80·8 million (95% uncertainty interval [UI] 59·5-105·9) to 125·3 million (93·0-163·2), and the proportion of global DALYs attributed to mental disorders increased from 3·1% (95% UI 2·4-3·9) to 4·9% (3·9-6·1). Age-standardised DALY rates remained largely consistent between 1990 (1581·2 DALYs [1170·9-2061·4] per 100 000 people) and 2019 (1566·2 DALYs [1160·1-2042·8] per 100 000 people). YLDs contributed to most of the mental disorder burden, with 125·3 million YLDs (95% UI 93·0-163·2; 14·6% [12·2-16·8] of global YLDs) in 2019 attributable to mental disorders. Eating disorders accounted for 17 361·5 YLLs (95% UI 15 518·5-21 459·8). Globally, the age-standardised DALY rate for mental disorders was 1426·5 (95% UI 1056·4-1869·5) per 100 000 population among males and 1703·3 (1261·5-2237·8) per 100 000 population among females. Age-standardised DALY rates were highest in Australasia, Tropical Latin America, and high-income North America.
INTERPRETATION: GBD 2019 showed that mental disorders remained among the top ten leading causes of burden worldwide, with no evidence of global reduction in the burden since 1990. The estimated YLLs for mental disorders were extremely low and do not reflect premature mortality in individuals with mental disorders. Research to establish causal pathways between mental disorders and other fatal health outcomes is recommended so that this may be addressed within the GBD study. To reduce the burden of mental disorders, coordinated delivery of effective prevention and treatment programmes by governments and the global health community is imperative.
FUNDING: Bill & Melinda Gates Foundation, Australian National Health and Medical Research Council, Queensland Department of Health, Australia.
PMID:35026139 | DOI:10.1016/S2215-0366(21)00395-3
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Type 1 Diabetes Mellitus and Risks of Major Psychiatric Disorders: A Nationwide Population-Based Cohort Study
Diabetes Metab. 2022 Jan 10:101319. doi: 10.1016/j.diabet.2022.101319. Online ahead of print.
ABSTRACT
BACKGROUND: The temporal association between type 1 diabetes mellitus (T1DM) and major psychiatric disorders, including schizophrenia, major affective disorder, autism spectrum disorder (ASD), and attention-deficit hyperactivity disorder (ADHD), remains elusive.
METHODS: The specialized databases of catastrophic diseases and mental disorders and the longitudinal health insurance database of Taiwan National Health Insurance Research Database were used in current study. A total of 6,226 patients with T1DM and 62,260 age- and sex-matched controls were recruited between 2001 and 2010 and were followed until the end of 2011 for the identification of diagnoses of schizophrenia (International Classification of Clinical Diseases, Ninth Edition, Clinical Modification [ICD-9-CM] code: 295), bipolar disorder (ICD-9-CM codes: 296 except 296.2x, 296.3x, 296.9x, and 296.82), major depressive disorder (ICD-9-CM codes: 296.2x and 296.3x), ASD (ICD-9-CM code: 299), and ADHD (ICD-9-CM code: 314).
RESULTS: Cox regression analysis revealed increased hazard ratios of schizophrenia (12.28), bipolar disorder (13.80), major depressive disorder (10.41), ASD (14.52), and ADHD (8.19) in patients with T1DM compared with controls.
DISCUSSION: Our findings indicate the importance of clinicians closely monitoring the mental health condition of children, adolescents, and adults with T1DM. Additional studies should be conducted to elucidate the definite pathomechanisms of comorbidities between T1DM and major psychiatric disorders.
PMID:35026379 | DOI:10.1016/j.diabet.2022.101319
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Diet, microbe, and autism: Cause or consequence?
Cell Host Microbe. 2022 Jan 12;30(1):5-7. doi: 10.1016/j.chom.2021.12.018.
ABSTRACT
Numerous studies have shown the possible contributions of the gut microbiome to the pathogenesis of autism spectrum disorder (ASD). However, recently in Cell, Yap et al. found that autism-related dietary preferences may mediate the ASD-microbiome associations, while the direct associations between ASD and gut microbiota are negligible.
PMID:35026135 | DOI:10.1016/j.chom.2021.12.018
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Androgen Effects on Neural Plasticity
Androg Clin Res Ther. 2021 Dec 23;2(1):216-230. doi: 10.1089/andro.2021.0022. eCollection 2021.
ABSTRACT
Androgens are synthesized in the brain, gonads, and adrenal glands, in both sexes, exerting physiologically important effects on the structure and function of the central nervous system. These effects may contribute to the incidence and progression of neurological disorders such as autism spectrum disorder, schizophrenia, and Alzheimer's disease, which occur at different rates in males and females. This review briefly summarizes the current state of knowledge with respect to the neuroplastic effects of androgens, with particular emphasis on the hippocampus, which has been the focus of much of the research in this field.
PMID:35024693 | PMC:PMC8744448 | DOI:10.1089/andro.2021.0022
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Aromatase in the Human Brain
Androg Clin Res Ther. 2021 Dec 23;2(1):189-202. doi: 10.1089/andro.2021.0007. eCollection 2021.
ABSTRACT
The aromatase cytochrome P450 (P450arom) enzyme, or estrogen synthase, which is coded by the CYP19A1 gene, is widely expressed in a subpopulation of excitatory and inhibitory neurons, astrocytes, and other cell types in the human brain. Experimental studies in laboratory animals indicate a prominent role of brain aromatization of androgens to estrogens in regulating different brain functions. However, the consequences of aromatase expression in the human brain remain poorly understood. Here, we summarize the current knowledge about aromatase expression in the human brain, abundant in the thalamus, amygdala, hypothalamus, cortex, and hippocampus and discuss its role in the regulation of sensory integration, body homeostasis, social behavior, cognition, language, and integrative functions. Since brain aromatase is affected by neurodegenerative conditions and may participate in sex-specific manifestations of autism spectrum disorders, major depressive disorder, multiple sclerosis, stroke, and Alzheimer's disease, we discuss future avenues for research and potential clinical and therapeutic implications of the expression of aromatase in the human brain.
PMID:35024691 | PMC:PMC8744447 | DOI:10.1089/andro.2021.0007
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Genome-Wide Association Study and Genetic Correlation Scan Provide Insights into Its Genetic Architecture of Sleep Health Score in the UK Biobank Cohort
Nat Sci Sleep. 2022 Jan 6;14:1-12. doi: 10.2147/NSS.S326818. eCollection 2022.
ABSTRACT
PURPOSE: Most previous genetic studies of sleep behaviors were conducted individually, without comprehensive consideration of the complexity of various sleep behaviors. Our aim is to identify the genetic architecture and potential biomarker of the sleep health score, which more powerfully represents overall sleep traits.
PATIENTS AND METHODS: We conducted a genome-wide association study (GWAS) of sleep health score (overall assessment of sleep duration, snoring, insomnia, chronotype, and daytime dozing) using 336,463 participants from the UK Biobank. Proteome-wide association study (PWAS) and transcriptome-wide association study (TWAS) were then performed to identify candidate genes at the protein and mRNA level, respectively. We finally used linkage disequilibrium score regression (LDSC) to estimate the genetic correlations between sleep health score and other functionally relevance traits.
RESULTS: GWAS identified multiple variants near known candidate genes associated with sleep health score, such as MEIS1, FBXL13, MED20 and SMAD5. HDHD2 (PPWAS = 0.0146) and GFAP (PPWAS = 0.0236) were identified associated with sleep health score by PWAS. TWAS identified ORC4 (PTWAS = 0.0212) and ZNF732 (PTWAS = 0.0349) considering mRNA expression level. LDSC found significant genetic correlations of sleep health score with 3 sleep behaviors (including insomnia, snoring, dozing), 4 psychiatry disorders (major depressive disorder, attention deficit/hyperactivity disorder, schizophrenia, autism spectrum disorder), and 9 plasma protein (such as Stabilin-1, Stromelysin-2, Cytochrome c) (all LDSC PLDSC < 0.05).
CONCLUSION: Our results advance the comprehensive understanding of the aetiology and genetic architecture of the sleep health score, refine the understanding of the relationship of sleep health score with other traits and diseases, and may serve as potential targets for future mechanistic studies of sleep phenotype.
PMID:35023977 | PMC:PMC8747788 | DOI:10.2147/NSS.S326818
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On-going consequences of in utero exposure of Pb: An epigenetic perspective
J Appl Toxicol. 2022 Jan 12. doi: 10.1002/jat.4287. Online ahead of print.
ABSTRACT
Epigenetic modifications by toxic heavy metals are one of the intensively investigated fields of modern genomic research. Among a diverse group of heavy metals, lead (Pb) is an extensively distributed toxicant causing an immense number of abnormalities in the developing fetus via a wide variety of epigenetic changes. As a divalent cation, Pb can readily cross the placental membrane and the fetal blood brain barrier leading to far-reaching alterations in DNA methylation patterns, histone protein modifications and micro-RNA expression. Over recent years, several human cohorts and animal model studies have documented hyper- and hypo-methylation of developmental genes along with altered DNA methyl-transferase expression by in utero Pb exposure in a dose-, duration- and sex-dependent manner. Modifications in the expression of specific histone acetyltransferase enzymes along with histone acetylation and methylation levels have been reported in rodent and murine models. Apart from these, down-regulation and up-regulation of certain microRNAs crucial for fetal development have been shown to be associated with in utero Pb exposure in human placenta samples. All these modifications in the developing fetus during the prenatal and perinatal stages reportedly caused severe abnormalities in early or adult age, such as - impaired growth, obesity, autism, diabetes, cardiovascular diseases, risks of cancer development and Alzheimer's disease. In this review, currently available information on Pb-mediated alterations in the fetal epigenome is summarized. Further research on Pb-induced epigenome modification will help to understand the mechanisms in detail and will enable us to formulate safety guidelines for pregnant women and developing children.
PMID:35023172 | DOI:10.1002/jat.4287
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The association of stem cell factor and soluble c-Kit (s-cKit) receptor serum concentrations with the severity and risk prediction of autism spectrum disorders
Metab Brain Dis. 2022 Jan 13. doi: 10.1007/s11011-021-00883-5. Online ahead of print.
ABSTRACT
S tem cell factor (SCF) and its receptor (c-kit) signaling play important role in normal brain physiology including neurogenesis, synapse formation and spatial learning function of the hippocampal region of the brain. Autism spectrum disorder (ASD) is believed to result from abnormal development of neuronal networks and synaptic function. The aim of this study was to evaluate the SCF and its soluble receptor (s-ckit) serum concentrations in ASD. We also studied the serum SCF and s-ckit concentration with the severity of ASD (Levels 1-3; Mild, Moderate and severe, respectively). Ninety five patients with ASD (Mild; n=33, Moderate; n=32 and severe; n=30) and 82 normal controls age matched were included in this study. The serum concentration of SCF and s-ckit were measured by enzyme-linked immunosorbent assay (ELISA). The SCF serum concentration in control subjects was 3.45±1.06 ng/ml and in ASD was 3.41±0.92 ng/ml (P=0.88). The serum levels of s-ckit in control and ASD groups were 56.82±13.22 ng/ml and 67.11±12.00, respectively (P=001). We have also studied serum SCF and s-ckit concentrations with the severity of ASD. The serum concentration of SCF in mild, moderate and severe ASD groups was 3.45±0.93, 3.4±0.87 and 3.43±0.98 ng/ml, respectively (P>0.05) and for s-ckit was 48.77±9.28, 61.66±12.18 and 93.11±14.81ng/ml, respectively (P<0.05). The result of this study suggests that serum s-cKit concentrations may provide a reliable and practical indicator of ASD and positively correlated with disease severity. It is also concluded that s-cKit might be involved in the pathophysiology of ASD.
PMID:35023029 | DOI:10.1007/s11011-021-00883-5
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Exploration of Treatment Response in Parent Training for Children with Autism Spectrum Disorder and Moderate Food Selectivity
J Autism Dev Disord. 2022 Jan 15. doi: 10.1007/s10803-021-05406-w. Online ahead of print.
ABSTRACT
Managing Eating Aversions and Limited Variety (MEAL) Plan is a structured parent-mediated intervention for children with autism spectrum disorder and moderate food selectivity. Our previously reported group-based clinical trial revealed a positive treatment response rate of 47.3%. Although encouraging, this response rate raises questions about factors that may affect treatment outcomes. Here, we examine the impact of child and parent characteristics and feeding behaviors on treatment response. Higher maternal education and higher child communication abilities at baseline were associated with positive treatment response. Improvement in sitting at the table and reductions in disruptive mealtime behavior promoted treatment success. Results also suggest that individually delivered MEAL Plan may offer more flexibility than group-based intervention for some parents.
PMID:35032300 | DOI:10.1007/s10803-021-05406-w
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Electrodermal Activity Moderates Sleep-Behavior Associations in Children with Autism Spectrum Disorder
Res Child Adolesc Psychopathol. 2022 Jan 15. doi: 10.1007/s10802-022-00900-w. Online ahead of print.
ABSTRACT
Relative to children without autism spectrum disorder (ASD), children with ASD experience elevated sleep problems that can contribute to behavioral comorbidities. This study explored the interaction between psychophysiology and sleep to determine which children with ASD may be at risk for, or resilient to, effects of poor sleep on daytime behavior. Participants included 48 children (aged 6-10 years) with ASD. Measures of sympathetic nervous system activity (electrodermal activity; EDA) were collected during a baseline and in response to a laboratory challenge task. Parents reported on their children's sleep problems and behavioral functioning, including broad externalizing symptoms and situational noncompliance, using standardized questionnaires and a clinical interview. EDA moderated the significant positive associations between sleep problems and both behavioral outcomes. The link between sleep problems and broad externalizing symptoms and situational noncompliance was positive and significant in the context of lower baseline EDA and nonsignificant in the context of higher baseline EDA. Sleep problems also interacted with EDA reactivity in predicting situational noncompliance, but not broad externalizing symptoms. Findings highlight the complex interplay among sleep, daytime behavior, and psychophysiology in children with ASD. Results are interpreted in the context of differential susceptibility and dual-risk frameworks. This study underscores the importance of high-quality sleep for children with ASD, especially those with the biological sensitivity or vulnerability factors (i.e., EDA) identified in this study. Clinical implications are discussed, and directions for future research are provided.
PMID:35032292 | DOI:10.1007/s10802-022-00900-w
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Measuring visual electrophysiological responses in individuals with low-functioning autism: a feasibility and pilot study
Pilot Feasibility Stud. 2022 Jan 14;8(1):7. doi: 10.1186/s40814-021-00960-7.
ABSTRACT
BACKGROUND: Although visual abnormalities are considered common in individuals with autism spectrum disorders, the associated electrophysiological markers have remained elusive. One impediment has been that methodological challenges often preclude testing individuals with low-functioning autism (LFA).
METHODS: In this feasibility and pilot study, we tested a hybrid visual evoked potential paradigm tailored to individuals with LFA that combines passively presented visual stimuli to elicit scalp-recorded evoked responses with a behavioral paradigm to maintain visual attention. We conducted a pilot study to explore differences in visual evoked response patterns across three groups: individuals with LFA, with high-functioning autism (HFA), and with typical development.
RESULTS: All participants with LFA met criteria for study feasibility by completing the recordings and producing measurable cortical evoked waveform responses. The LFA group had longer (delayed) cortical response latencies on average as compared with the HFA and typical development groups. We also observed group differences in visually induced alpha spectral power: the LFA group showed little to no prestimulus alpha activity in contrast to the HFA and typical development groups that showed increased prestimulus alpha activity. This observation was confirmed by the bootstrapped confidence intervals, suggesting that the absence of prestimulus alpha power may be a potential electrophysiological marker of LFA.
CONCLUSION: Our results confirm the utility of tailoring visual electrophysiology paradigms to individuals with LFA in order to facilitate inclusion of individuals across the autism spectrum in studies of visual processing.
PMID:35031056 | DOI:10.1186/s40814-021-00960-7
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Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period
J Neurodev Disord. 2022 Jan 15;14(1):8. doi: 10.1186/s11689-022-09416-2.
ABSTRACT
BACKGROUND: The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70-80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes - cell-adhesion molecule contactin-3.
METHODS: Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1-48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0-44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0-3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro.
RESULTS: CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = - 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0-3 years old (fold change = - 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cells in vitro (fold change = 6.2, p < 0.01).
CONCLUSIONS: Our data show a lower expression of contactin-3 in cortical tubers of TSC patients during early postnatal period as compared to controls, which may affect normal brain development and might contribute to neuropsychiatric co-morbidities observed in patients with TSC.
PMID:35030990 | DOI:10.1186/s11689-022-09416-2
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Remote Microphone Systems Can Improve Listening-in-Noise Accuracy and Listening Effort for Youth With Autism
Ear Hear. 2022 Jan 13. doi: 10.1097/AUD.0000000000001058. Online ahead of print.
ABSTRACT
OBJECTIVES: This study examined whether remote microphone (RM) systems improved listening-in-noise performance in youth with autism. We explored effects of RM system use on both listening-in-noise accuracy and listening effort in a well-characterized sample of participants with autism. We hypothesized that listening-in-noise accuracy would be enhanced and listening effort reduced, on average, when participants used the RM system. Furthermore, we predicted that effects of RM system use on listening-in-noise accuracy and listening effort would vary according to participant characteristics. Specifically, we hypothesized that participants who were chronologically older, had greater nonverbal cognitive and language ability, displayed fewer features of autism, and presented with more typical sensory and multisensory profiles might exhibit greater benefits of RM system use than participants who were younger, had less nonverbal cognitive or language ability, displayed more features of autism, and presented with greater sensory and multisensory disruptions.
DESIGN: We implemented a within-subjects design to investigate our hypotheses, wherein 32 youth with autism completed listening-in-noise testing with and without an RM system. Listening-in-noise accuracy and listening effort were evaluated simultaneously using a dual-task paradigm for stimuli varying in complexity (i.e., syllable-, word-, sentence-, and passage-level). In addition, several putative moderators of RM system effects (i.e., sensory and multisensory function, language, nonverbal cognition, and broader features of autism) on outcomes of interest were evaluated.
RESULTS: Overall, RM system use resulted in higher listening-in-noise accuracy in youth with autism compared with no RM system use. The observed benefits were all large in magnitude, although the benefits on average were greater for more complex stimuli (e.g., key words embedded in sentences) and relatively smaller for less complex stimuli (e.g., syllables). Notably, none of the putative moderators significantly influenced the effects of the RM system on listening-in-noise accuracy, indicating that RM system benefits did not vary according to any of the participant characteristics assessed. On average, RM system use did not have an effect on listening effort across all youth with autism compared with no RM system use but instead yielded effects that varied according to participant profile. Specifically, moderated effects indicated that RM system use was associated with increased listening effort for youth who had (a) average to below-average nonverbal cognitive ability, (b) below-average language ability, and (c) reduced audiovisual integration. RM system use was also associated with decreased listening effort for youth with very high nonverbal cognitive ability.
CONCLUSIONS: This study extends prior work by showing that RM systems have the potential to boost listening-in-noise accuracy for youth with autism. However, this boost in accuracy was coupled with increased listening effort, as indexed by longer reaction times while using an RM system, for some youth with autism, perhaps suggesting greater engagement in the listening-in-noise tasks when using the RM system for youth who had lower cognitive abilities, were less linguistically able, and/or have difficulty integrating seen and heard speech. These findings have important implications for clinical practice, suggesting RM system use in classrooms could potentially improve listening-in-noise performance for some youth with autism.
PMID:35030553 | DOI:10.1097/AUD.0000000000001058
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Occupational Therapy Service Delivery Among Medicaid-Enrolled Children and Adults on the Autism Spectrum and With Other Intellectual Disabilities
Am J Occup Ther. 2022 Jan 1;76(1):7601180100. doi: 10.5014/ajot.2022.049202.
ABSTRACT
IMPORTANCE: Rates of occupational therapy service utilization among people with autism spectrum disorder (ASD) or intellectual disability (ID) have not been explored in population-based samples.
OBJECTIVE: To describe occupational therapy services delivered to Medicaid-eligible persons younger than age 65 yr identified as having ASD, ID, or both and to evaluate demographic factors associated with occupational therapy service utilization in this population.
DESIGN: Retrospective, case-control, cohort study using claims records from Medicaid Analytic eXtract files (2009-2012).
SETTING: Data from all 50 states and Washington, DC.
PARTICIPANTS: Beneficiaries identified as having ASD only, ASD+ID, or ID only who were younger than age 18 yr (N = 664,214) and ages 18-64 yr (N = 702,338). Outcomes and Measures: We analyzed Current Procedural Terminology® and Healthcare Common Procedure Coding System procedure codes, Medicaid Statistical Information System type of service codes, and Center for Medicare & Medicaid Services provider specialty codes.
RESULTS: Only 3.7% to 6.3% of eligible adult beneficiaries received occupational therapy; in contrast, 20.5% to 24.2% of children received occupational therapy. Significant predictors of service use varied by group; however, differences by race-ethnicity, eligibility on the basis of poverty, and geographic location were observed. Among children, the most frequent billing code was for "therapeutic activities" (43%-60%); among adults, it was "community/work reintegration training" (29%-39%).
CONCLUSIONS AND RELEVANCE: Billed procedure code patterns do not consistently reflect the unique occupational focus that occupational therapy providers deliver to people with developmental disabilities. Disparities in occupational therapy receipt warrant further attention to understand the social and structural factors affecting service delivery. What This Article Adds: Occupational therapy services paid for by Medicaid are used more frequently by children with ASD and ID than by adults with these diagnoses. Greater understanding of the intersectional factors that drive service delivery and disparities is needed.
PMID:35030249 | DOI:10.5014/ajot.2022.049202
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An Update on Psychopharmacological Treatment of Autism Spectrum Disorder
Neurotherapeutics. 2022 Jan 14. doi: 10.1007/s13311-022-01183-1. Online ahead of print.
ABSTRACT
While behavioral interventions remain the mainstay of treatment of autism spectrum disorder (ASD), several potential targeted treatments addressing the underlying neurophysiology of ASD have emerged in the last few years. These are promising for the potential to, in future, become part of the mainstay treatment in addressing the core symptoms of ASD. Although it is likely that the development of future targeted treatments will be influenced by the underlying heterogeneity in etiology, associated genetic mechanisms influencing ASD are likely to be the first targets of treatments and even gene therapy in the future for ASD. In this article, we provide a review of current psychopharmacological treatment in ASD including those used to address common comorbidities of the condition and upcoming new targeted approaches in autism management. Medications including metformin, arbaclofen, cannabidiol, oxytocin, bumetanide, lovastatin, trofinetide, and dietary supplements including sulforophane and N-acetylcysteine are discussed. Commonly used medications to address the comorbidities associated with ASD including atypical antipsychotics, serotoninergic agents, alpha-2 agonists, and stimulant medications are also reviewed. Targeted treatments in Fragile X syndrome (FXS), the most common genetic disorder leading to ASD, provide a model for new treatments that may be helpful for other forms of ASD.
PMID:35029811 | DOI:10.1007/s13311-022-01183-1
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A Nine-Item Red Flag Sign Card for Identification of Autism Spectrum Disorder among Toddlers Aged 12 to 18 Months
Indian J Pediatr. 2022 Jan 14. doi: 10.1007/s12098-021-04021-y. Online ahead of print.
ABSTRACT
There is a dearth of validated red flags measures for early identification of autism spectrum disorder (ASD) among toddlers. Hence, a new screening measure was developed. Item generation was done through literature search. Content validity (CVI) assessment was done. Criterion validity was done using Diagnostic and Statistical Manual 5 (DSM-5) as reference standard, data were collected from the case records of children with ASD diagnosis at 2 y, and evaluated for developmental milestones between 12 and 18 mo in a tertiary care setting. Item reduction of the measure from 18 to 9 was done. The area under the curve in the receiver operating characteristic (ROC) curve for new measure was 0.81 (95% CI = 0.73, 0.87); z = 7.874; p < 0.001 against DSM-5 score of ≥ 2 in the new measure; achieved sensitivity of 93.42% (95% CI = 85.3, 97.8) and specificity of 60% (95% CI = 45.9, 73.0). Thus, new validated red flag sign card (Concern-9) can be used effectively for early screening and identification of ASD among children aged 12-18 mo.
PMID:35029807 | DOI:10.1007/s12098-021-04021-y
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