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1.
Nat Rev Genet ; 19(10): 649-666, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29995837

RESUMEN

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.


Asunto(s)
Síndrome de Cornelia de Lange , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Consenso , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/fisiopatología , Síndrome de Cornelia de Lange/terapia , Estudios de Asociación Genética , Humanos
2.
J Pediatr ; 260: 113514, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37244580

RESUMEN

To examine delay from developmental screening to autism diagnosis, we used real-world health care data from a national research network to estimate the time between these events. We found an average delay of longer than 2 years from first screening to diagnosis, with no significant differences observed by sex, race, or ethnicity.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Trastorno del Espectro Autista/diagnóstico , Etnicidad , Prevalencia
3.
BMC Med Inform Decis Mak ; 20(Suppl 11): 322, 2020 12 30.
Artículo en Inglés | MEDLINE | ID: mdl-33380331

RESUMEN

BACKGROUND: Natural language processing (NLP) tools can facilitate the extraction of biomedical concepts from unstructured free texts, such as research articles or clinical notes. The NLP software tools CLAMP, cTAKES, and MetaMap are among the most widely used tools to extract biomedical concept entities. However, their performance in extracting disease-specific terminology from literature has not been compared extensively, especially for complex neuropsychiatric disorders with a diverse set of phenotypic and clinical manifestations. METHODS: We comparatively evaluated these NLP tools using autism spectrum disorder (ASD) as a case study. We collected 827 ASD-related terms based on previous literature as the benchmark list for performance evaluation. Then, we applied CLAMP, cTAKES, and MetaMap on 544 full-text articles and 20,408 abstracts from PubMed to extract ASD-related terms. We evaluated the predictive performance using precision, recall, and F1 score. RESULTS: We found that CLAMP has the best performance in terms of F1 score followed by cTAKES and then MetaMap. Our results show that CLAMP has much higher precision than cTAKES and MetaMap, while cTAKES and MetaMap have higher recall than CLAMP. CONCLUSION: The analysis protocols used in this study can be applied to other neuropsychiatric or neurodevelopmental disorders that lack well-defined terminology sets to describe their phenotypic presentations.


Asunto(s)
Trastorno del Espectro Autista , Procesamiento de Lenguaje Natural , Benchmarking , Humanos , PubMed , Programas Informáticos
4.
J Pediatr ; 206: 283-285, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30579583

RESUMEN

Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.


Asunto(s)
Encefalopatías Metabólicas Innatas/diagnóstico , Creatina/deficiencia , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/deficiencia , Adolescente , Factores de Edad , Encefalopatías Metabólicas Innatas/complicaciones , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Discapacidad Intelectual Ligada al Cromosoma X/complicaciones , Estudios Retrospectivos , Factores de Riesgo , Evaluación de Síntomas , Urinálisis , Adulto Joven
5.
Pediatr Clin North Am ; 71(2): 127-155, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38423713

RESUMEN

Screening for autism is recommended in pediatric primary care. However, the median age of autism spectrum disorder (ASD) diagnosis is substantially higher than the age at which autism can reliably be identified, suggesting room for improvements in autism recognition at young ages, especially for children from minoritized racial and ethnic groups, low-income families, and families who prefer a language other than English. Novel approaches are being developed to utilize new technologies in aiding in autism recognition. However, attention to equity is needed to minimize bias. Additional research on the benefits and potential harms of universal autism screening is needed. The authors provide suggestions for pediatricians who are considering implementing autism-screening programs.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Humanos , Trastorno del Espectro Autista/diagnóstico , Etnicidad , Pediatras
6.
J Child Psychol Psychiatry ; 54(5): 582-90, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23078094

RESUMEN

BACKGROUND: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. METHODS: Stability of diagnosis and Autism Diagnostic Observation Schedule ­ Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS Project.Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. RESULTS: Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations,although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e.,improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. CONCLUSIONS: Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations.Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain early patterns of change in symptoms may be characteristic of ASD. KEYWORDS: Autism spectrum disorder, developmental delay, diagnosis, development,assessment.


Asunto(s)
Trastornos Generalizados del Desarrollo Infantil/diagnóstico , Diagnóstico Precoz , Preescolar , Femenino , Humanos , Lactante , Modelos Logísticos , Masculino , Valor Predictivo de las Pruebas , Estudios Prospectivos , Evaluación de Síntomas , Factores de Tiempo
7.
Acad Pediatr ; 23(8): 1561-1571, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37393034

RESUMEN

OBJECTIVE: To examine rates of depression screening and positivity among autistic adolescents where electronic depression screening is administered universally; to compare rates between autistic and nonautistic youth; and to explore sociodemographic and clinical factors associated with screening completion and results. METHODS: We conducted a retrospective cohort study comparing 12-17-year-old autistic and nonautistic adolescents presenting for well-child care in a large pediatric primary care network between November 2017 and January 2019 (N = 60,181). Sociodemographic and clinical data, including PHQ-9-M completion status and results, were extracted digitally from the electronic health record and compared between autistic and nonautistic youth. Logistic regression explored the relationship between sociodemographic and clinical factors and screen completion and results, stratified by autism diagnosis. RESULTS: Autistic adolescents were significantly less likely to have a completed depression screen compared to nonautistic adolescents [67.0% vs 78.9%, odds ratio (OR) = 0.54, P < .01]. Among those with a completed screen, a higher percentage of autistic youths screened positive for depression (39.1% vs 22.8%; OR = 2.18, P < .01,) and suicidal ideation/behavior (13.4% vs 6.8%; OR = 2.13, P < .01). Factors associated with screening completion and positivity differed between autistic and nonautistic groups. CONCLUSIONS: Autistic adolescents were less likely to have a completed depression screen when presenting for well-child care. However, when screened, they were more likely to endorse depression and suicide risk. This suggests disparities in depression screening and risk among autistic youth compared to nonautistic youth. Additional research should evaluate the source of these disparities, explore barriers to screening, and examine longitudinal outcomes of positive results among this population.


Asunto(s)
Trastorno Autístico , Humanos , Niño , Adolescente , Trastorno Autístico/diagnóstico , Trastorno Autístico/epidemiología , Depresión/diagnóstico , Depresión/epidemiología , Estudios Retrospectivos , Ideación Suicida , Atención Primaria de Salud
8.
Autism ; : 13623613231159153, 2023 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-36922406

RESUMEN

LAY ABSTRACT: Behavioral interventions that incorporate naturalistic, developmental strategies have been shown to improve outcomes for young children who receive an autism spectrum disorder (ASD) diagnosis. Although there is broad consensus that children on the spectrum should begin supports as soon as possible, the empirical evidence for this is relatively limited and little is known about the optimal age to start autism-specific interventions. Our team conducted a randomized controlled trial (RCT) to test the effects of starting intervention at different ages, using the Early Social Interaction (ESI) model, a parent-implemented intervention for toddlers on the spectrum. Participants included 82 autistic toddlers and their caregiver(s) who received 9 months of Individual-ESI and 9 months of Group-ESI, with the timing/order of these two treatment conditions randomized. Thus, families received the more intensive and individualized Individual-ESI at either 18 or 27 months of age. Results revealed that children who received Individual-ESI earlier showed greater treatment gains than those who received this intervention later. Gains were demonstrated in several areas, which included the use and understanding of language, social use of communication skills, and self-help skills. Importantly, these findings were specific to the intensive and individualized parent coaching model compared to group-based treatment, allowing us to rule out the possibility that these timing effects were due to children getting older rather than the treatment itself. Our results suggest that even a narrow window of 18 versus 27 months may have an impact on outcomes and underscore the importance of screening and evaluation as young as possible.

9.
Autism ; 27(6): 1840-1846, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36652297

RESUMEN

LAY ABSTRACT: Historically, children from non-Hispanic Black and Hispanic backgrounds, those from lower-income families, and girls are less likely to be diagnosed with autism spectrum disorder. Under-identification among these historically and contemporaneously marginalized groups can limit their access to early, autism spectrum disorder-specific interventions, which can have long-term negative impacts. Recent data suggest that some of these trends may be narrowing, or even reversing. Using electronic health record data, we calculated autism spectrum disorder prevalence rates and age of first documented diagnosis across socio-demographic groups. Our cohort included children seen at young ages (when eligible for screening in early childhood) and again at least after 4 years of age in a large primary care network. We found that autism spectrum disorder prevalence was unexpectedly higher among Asian children, non-Hispanic Black children, children with higher Social Vulnerability Index scores (a measure of socio-economic risk at the neighborhood level), and children who received care in urban primary care sites. We did not find differences in the age at which autism spectrum disorder diagnoses were documented in children's records across these groups. Receiving primary care at an urban site (regardless of location of specialty care) appeared to account for most other socio-demographic differences in autism spectrum disorder prevalence rates, except among Asian children, who remained more likely to be diagnosed with autism spectrum disorder after controlling for other factors. We must continue to better understand the process by which children with autism spectrum disorder from traditionally under-identified and under-served backgrounds come to be recognized, to continue to improve the equity of care.


Asunto(s)
Trastorno del Espectro Autista , Trastornos Generalizados del Desarrollo Infantil , Niño , Preescolar , Femenino , Humanos , Trastorno del Espectro Autista/diagnóstico , Prevalencia , Atención Primaria de Salud , Asiático , Negro o Afroamericano , Poblaciones Vulnerables , Pediatría
10.
Mol Genet Metab Rep ; 37: 101001, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37662495

RESUMEN

Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aß40, Aß42 and total tau are abnormal in Alzheimer disease (AD), a common neurodegenerative disorder pathologically characterized by Aß peptide containing amyloid plaques and tau neurofibrillary tangles. Although CTD results in neuronal energy deficiency, the pathological processes underlying the CTD phenotype are not fully characterized. Methods: Cerebral spinal fluid (CSF) was collected as an optional part of a natural history study of CTD. Aß40, Aß42 and total tau levels were quantified in CSF from individuals with CTD and from age-appropriate comparison samples. Neuro3-Plex enzyme-linked immunoassay was performed on a Quanterix SR-X instrument. The Vineland Adaptive Behavior Scale, 3rd Edition was used to determine an overall Adaptive Behavior Composite (ABC) standard score. Results: CSF from 12 individuals with CTD and 23 age appropriate non-CTD comparison samples were analyzed. We found that levels of total tau [t(32) = 4.05, p = 0.0003], Aß40 [t(31) = 6.11, p < 0.0001], and Aß42 [t(32) = 3.20, p = 0.003] were elevated in the participants with CTD relative to the comparison group. Additionally, except for one individual that we considered an outlier, all three biomarkers correlated inversely with the adaptive behavior score (total tau: ρ = -0.60 [-0.88, 0.005]; Aß40: ρ = -0.67 [-0.91, -0.12]; Aß42: ρ = -0.62 [-0.89, -0.02]). Conclusion: We describe here the novel finding of elevated protein biomarkers in the CSF of individuals with CTD. Aß40, Aß42 and total tau are markedly elevated in individuals with CTD compared to comparison samples, and increased levels of these biomarkers inversely correlated with ABC scores. We hypothesize that elevated CSF levels of Aß40 and Aß42 are due to cellular energy deficiency. Elevated CSF total tau levels may indicate ongoing neuronal damage. The observed inverse correlation of Vineland ABC scores with increased biomarker levels needs to be confirmed in a larger CTD cohort; however, our observation of increased Aß40, Aß42 and total tau levels in CSF from individuals with CTD may provide insight into pathological mechanisms contributing to the CTD phenotype and may prove useful as supportive data in future therapeutic trials.

12.
Lang Learn Dev ; 18(1): 81-96, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35603229

RESUMEN

Vocabulary checklists completed by caregivers are a common way of measuring children's vocabulary knowledge. We provide evidence from checklist data from 31 children with and without autism spectrum disorder. When asked to report twice about whether or not their child produces a particular word, caregivers are largely consistent in their responses, but where they are inconsistent, these inconsistencies affect verbs more than nouns. This difference holds both for caregivers of children with autism spectrum disorder and caregivers of typically-developing children. We suggest that caregivers may be less sure of their child's knowledge about verbs than nouns. This data converges with prior evidence comparing language samples of words children produce in a recorded interaction with checklist data, and it has implications for how researchers use checklist data in cases where the reliability of estimates of verb knowledge is critical.

13.
J Neurodev Disord ; 14(1): 32, 2022 05 23.
Artículo en Inglés | MEDLINE | ID: mdl-35606697

RESUMEN

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges remain in diagnosing and subtyping ASD due in part to the lack of a validated, standardized vocabulary to characterize clinical phenotypic presentation of ASD. Although the human phenotype ontology (HPO) plays an important role in delineating nuanced phenotypes for rare genetic diseases, it is inadequate to capture characteristic of behavioral and psychiatric phenotypes for individuals with ASD. There is a clear need, therefore, for a well-established phenotype terminology set that can assist in characterization of ASD phenotypes from patients' clinical narratives. METHODS: To address this challenge, we used natural language processing (NLP) techniques to identify and curate ASD phenotypic terms from high-quality unstructured clinical notes in the electronic health record (EHR) on 8499 individuals with ASD, 8177 individuals with non-ASD psychiatric disorders, and 8482 individuals without a documented psychiatric disorder. We further performed dimensional reduction clustering analysis to subgroup individuals with ASD, using nonnegative matrix factorization method. RESULTS: Through a note-processing pipeline that includes several steps of state-of-the-art NLP approaches, we identified 3336 ASD terms linking to 1943 unique medical concepts, which represents among the largest ASD terminology set to date. The extracted ASD terms were further organized in a formal ontology structure similar to the HPO. Clustering analysis showed that these terms could be used in a diagnostic pipeline to differentiate individuals with ASD from individuals with other psychiatric disorders. CONCLUSION: Our ASD phenotype ontology can assist clinicians and researchers in characterizing individuals with ASD, facilitating automated diagnosis, and subtyping individuals with ASD to facilitate personalized therapeutic decision-making.


Asunto(s)
Trastorno del Espectro Autista , Procesamiento de Lenguaje Natural , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Registros Electrónicos de Salud , Humanos , Fenotipo , Vocabulario
14.
Acad Pediatr ; 22(8): 1384-1389, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35460894

RESUMEN

OBJECTIVE: To assess the impact of the COVID-19 pandemic on screening for autism spectrum disorder (ASD) and screening equity among eligible children presenting for well-child care in a large primary care pediatric network, we compared rates of ASD screening completion and positivity during the pandemic to the year prior, stratified by sociodemographic factors. METHODS: Patients who presented for in-person well-child care at 16 to 26 months between March 1, 2020 and February 28, 2021 (COVID-19 cohort, n = 24,549) were compared to those who presented between March 1, 2019 and February 29, 2020 (pre-COVID-19 cohort, n = 26,779). Demographics and rates of completion and positivity of the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT/F) were calculated from the electronic health record and compared by cohort using logistic regression models. RESULTS: Total eligible visits decreased by 8.3% between cohorts, with a greater decline in Black and publicly insured children. In the pre-COVID-19 cohort, 89.0% of eligible children were screened at least once, compared to 86.4% during the pandemic (P < 0.001). Significant declines in screening completion were observed across all sociodemographic groups except among Asian children, with the sharpest declines among non-Hispanic White children. Sociodemographic differences were not observed in screen-positive rates by cohort. CONCLUSIONS: Well-child visits and ASD screenings declined across groups, but with different patterns by race and ethnicity during the COVID-19 pandemic. Findings regarding screen-completion rates should not be interpreted as a decline in screening disparities, given differences in who presented for care. Strategies for catch-up screening for all children should be considered.


Asunto(s)
Trastorno del Espectro Autista , COVID-19 , Humanos , Niño , Lactante , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , COVID-19/diagnóstico , Pandemias , Tamizaje Masivo , Atención Primaria de Salud
15.
J Comp Eff Res ; 10(11): 917-926, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34037425

RESUMEN

Aim: To describe healthcare utilization patterns among children with autism (n = 1821), and compare these patterns to children with other developmental delays (DD; n = 12,336) and a population comparison (PC; n = 18,210) cohort. Materials & methods: Retrospective study of administrative billing data. Results: Children with autism had roughly six-times more annual outpatient visits as PC children and twice as many as children with DD. Children with autism were more likely than PC children to use nearly all services, but comparisons between the autism and DD cohorts were mixed. Children with autism were more likely to have psychiatry/psychology visits, 'other' specialty care visits and psychotropic prescriptions, but less likely to have pediatric specialty care visits, immunizations and some prescriptions. Conclusion: Findings reveal opportunities to streamline, coordinate or improve care for young children with autism, particularly for outpatient services, and to give caregivers appropriate anticipatory guidance about what to expect after an autism diagnosis.


Lay abstract We compared how young children with autism use healthcare services versus children with other developmental delays (DDs) and a population comparison (PC) group. We examined medical billing records of children with private health insurance from across the USA. Children with autism were more likely than PC children to use nearly all healthcare services. Children with autism had about six-times as many annual outpatient visits as PC children and twice as many as children with DD. Children with autism were more likely to use some services and less likely to use other services compared with children with DD. For example, children with autism were more likely to have mental health visits and medications, but less likely to have pediatric specialty care visits or allergy medications. Outpatient visits and other healthcare services may need to be streamlined, coordinated or improved for young children with autism.


Asunto(s)
Trastorno Autístico , Trastorno Autístico/diagnóstico , Trastorno Autístico/epidemiología , Trastorno Autístico/terapia , Cuidadores , Niño , Preescolar , Estudios de Cohortes , Humanos , Aceptación de la Atención de Salud , Estudios Retrospectivos
16.
J Dev Behav Pediatr ; 42(1): 23-31, 2021 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-32909974

RESUMEN

OBJECTIVES: Guidelines recommend universal screening for developmental concerns in young children in pediatric primary care, with referral to early intervention (EI) as early as possible for children with a positive screen. However, participation in EI differs by child race, ethnicity, language, and sex. This study evaluated disparities in rates of referral to EI and estimated the factors associated with referral before and immediately after a positive developmental screen. METHODS: Children seen in a large primary care network that has implemented universal developmental screening were included if they screened positive on the Survey of Well-being of Young Children (SWYC) Milestones during a 16- to 30-month well-child visit (n = 7358). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Among children who screened positive, 17.5% were already in EI, and 39.9% were referred to EI during the visit with positive screen; 42.5% were not referred. In adjusted regression, the following factors were associated with being in EI before the positive screen: lower SWYC score and being male, older, and White. The following factors were associated with new referral to EI during a visit with positive SWYC: having lower SWYC score or lower income and being male, older, and Black race. CONCLUSION: The finding that White children were more likely referred before developmental screening and non-White children more likely referred at the time of positive screen suggests that screening decreases disparities by increasing referral for children with developmental delays from traditionally underserved backgrounds.


Asunto(s)
Discapacidades del Desarrollo , Derivación y Consulta , Niño , Preescolar , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Intervención Educativa Precoz , Humanos , Lactante , Masculino , Tamizaje Masivo , Atención Primaria de Salud
17.
Autism ; 25(7): 2112-2123, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-33962531

RESUMEN

LAY ABSTRACT: There is a critical need for accurate screening tools for autism spectrum disorder in very young children so families can access tailored intervention services as early as possible. However, there are few screeners designed for children 18-24 months. Developing screeners that pick up on the signs of autism spectrum disorder in very young children has proved even more challenging. In this study, we examined a new autism-specific parent-report screening tool, the Early Screening for Autism and Communication Disorders for children between 12 and 36 months of age. Field-testing was done in five sites with 471 children screened for communication delays in primary care or referred for familial risk or concern for autism spectrum disorder. The Early Screening for Autism and Communication Disorders was tested in three age groups: 12-17, 18-23, and 24-36 months. A best-estimate diagnosis of autism spectrum disorder, developmental delay, or typical development was made. Analyses examined all 46 items and identified 30 items that best discriminated autism spectrum disorder from the non-spectrum groups. Cutoffs were established for each age group with good sensitivity and specificity. Results provide preliminary support for the accuracy of the Early Screening for Autism and Communication Disorders as an autism-specific screener in children 12-36 months with elevated risk of communication delay or autism spectrum disorder.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos de la Comunicación , Trastorno del Espectro Autista/diagnóstico , Niño , Preescolar , Trastornos de la Comunicación/diagnóstico , Humanos , Lactante , Tamizaje Masivo , Sensibilidad y Especificidad
18.
PLoS One ; 15(5): e0232335, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32379778

RESUMEN

OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Adhesión a Directriz/tendencias , Tamizaje Masivo/métodos , Trastorno Autístico/diagnóstico , Lista de Verificación , Preescolar , Toma de Decisiones , Intervención Educativa Precoz/métodos , Intervención Educativa Precoz/tendencias , Registros Electrónicos de Salud , Femenino , Humanos , Lactante , Masculino , Grupos Minoritarios , Pediatría/métodos , Pediatría/tendencias , Médicos/psicología , Atención Primaria de Salud , Derivación y Consulta , Encuestas y Cuestionarios
19.
Am J Intellect Dev Disabil ; 125(6): 475-480, 2020 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-33211814

RESUMEN

Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.


Asunto(s)
Trastornos del Neurodesarrollo/diagnóstico , Pruebas Neuropsicológicas/normas , Evaluación de Resultado en la Atención de Salud/normas , Psicometría/normas , Trastorno del Espectro Autista/diagnóstico , Encefalopatías Metabólicas Innatas/diagnóstico , Niño , Creatina/deficiencia , Humanos , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/deficiencia
20.
Pediatrics ; 144(4)2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31562252

RESUMEN

BACKGROUND: 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. METHODS: 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 (N = 25 999). RESULTS: 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. CONCLUSIONS: 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.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Lista de Verificación , Tamizaje Masivo/normas , Pediatría/normas , Factores de Edad , Trastorno del Espectro Autista/epidemiología , Preescolar , Registros Electrónicos de Salud , Femenino , Estudios de Seguimiento , Hospitales Pediátricos , Humanos , Lactante , Masculino , Tamizaje Masivo/estadística & datos numéricos , Grupos Minoritarios/estadística & datos numéricos , Pediatría/estadística & datos numéricos , Philadelphia/epidemiología , Valor Predictivo de las Pruebas , Prevalencia , Sensibilidad y Especificidad , Factores Sexuales , Factores Socioeconómicos
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