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Attention-deficit/hyperactivity disorder (ADHD) belongs to a phenotypically broad class of mental health disorders impacting social and cognitive functioning. Despite heritability estimates of 77%-88% and a global prevalence of up to 1 in 20 children, most of the underlying genetic etiology of the disorder remains undiscovered, making it challenging to obtain a clinical molecular genetic diagnosis and to develop new treatments (Biological Psychiatry, 2005, 57, 1313; Psychological Bulletin, 2009, 135, 608; Psychological Medicine, 2014, 44, 2223). Here we report the identification of a novel ultra-rare heterozygous loss-of-function (p.Q1625*) variant in a child with complex ADHD (i.e., comorbid mild intellectual disability [ID]) and a missense (p.G1748R) variant (allele frequency of 4.7 × 10-5) in a child with primary ADHD (i.e., absence of comorbid autism spectrum disorder [ASD], ID, or syndromic features) both in the SPTBN1 gene. Missense variants in SPTBN1 have been reported in individuals with developmental disorders, language and communication disorders, and motor delays in recent publications (Nature Genetics, 2021, 53, 1006; American Journal of Medical Genetics Part A, 2021, 185, 2037) and ClinVar, though most variants in ClinVar have uncertain disease associations. The functional impact of these 135 variants, including from the current study, were further assessed using prediction scores from the recently developed AlphaMissense tool and benchmarked against published functional studies on a subset of the variants. While heterozygous SPTBN1 variants have recently been associated with neurodevelopmental disorders characterized by global developmental delay, intellectual disability, and behavioral abnormalities, the two patients in the current study expand the phenotypic spectrum to include ADHD in the absence of more severe neurodevelopmental disorders, such as ASD and moderate to severe ID. Furthermore, the culmination of these data with existing reported cases suggests that variation including loss of function and missense events underlie a broader clinical spectrum than previously understood.
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OBJECTIVES: To characterize and compare the type and frequency of a range of common and uncommon adverse effects (AEs) associated with α-2 adrenergic agonist (A2A) and stimulant treatment of attention-deficit/hyperactivity disorder at preschool-age as well as to evaluate the impact of age on common AEs. STUDY DESIGN: This was a retrospective electronic medical record review of children <72 months of age (n = 497) evaluated at outpatient developmental-behavioral pediatric practices at 7 US academic medical centers within the Developmental-Behavioral Pediatrics Research Network. Data on AEs were abstracted for children who had treatment initiated by a developmental-behavioral pediatrician with an A2A or stimulant medication between January 2013 and July 2017; follow-up was complete by February 2019. RESULTS: A2A and stimulants had distinctive AE profiles. A2A compared with stimulants had a greater proportion with daytime sleepiness and headaches; stimulants had significantly greater proportions for most other AE, including moodiness/irritability, difficulty with sleep, appetite suppression, stomachaches, skin picking/repetitive behaviors, withdrawn behavior, and weight loss. Younger age was associated with disruptive behavior and difficulty with sleep. CONCLUSIONS: Stimulants had a greater rate of most AEs compared with A2A. AE profiles, together with efficacy, should inform clinical decision-making. Prospective randomized clinical trials are needed to fully compare efficacy and AE profiles of A2A and stimulants.
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Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Pediatria , Criança , Pré-Escolar , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estudos Retrospectivos , Estudos Prospectivos , Estimulantes do Sistema Nervoso Central/efeitos adversos , Agonistas Adrenérgicos/uso terapêuticoRESUMO
Importance: Attention-deficit/hyperactivity disorder (ADHD) is diagnosed in approximately 2.4% of preschool-age children. Stimulants are recommended as first-line medication treatment. However, up to 25% of preschool-age children with ADHD are treated with α2-adrenergic agonist medications, despite minimal evidence about their efficacy or adverse effects in this age range. Objective: To determine the frequency of reported improvement in ADHD symptoms and adverse effects associated with α2-adrenergic agonists and stimulant medication for initial ADHD medication treatment in preschool-age children. Design, Setting, and Participants: Retrospective electronic health record review. Data were obtained from health records of children seen at 7 outpatient developmental-behavioral pediatric practices in the Developmental Behavioral Pediatrics Research Network in the US. Data were abstracted for 497 consecutive children who were younger than 72 months when treatment with an α2-adrenergic agonist or stimulant medication was initiated by a developmental-behavioral pediatrician for ADHD and were treated between January 1, 2013, and July 1, 2017. Follow-up was complete on February 27, 2019. Exposures: α2-Adrenergic agonist vs stimulant medication as initial ADHD medication treatment. Main Outcomes and Measures: Reported improvement in ADHD symptoms and adverse effects. Results: Data were abstracted from electronic health records of 497 preschool-age children with ADHD receiving α2-adrenergic agonists or stimulants. Median child age was 62 months at ADHD medication initiation, and 409 children (82%) were males. For initial ADHD medication treatment, α2-adrenergic agonists were prescribed to 175 children (35%; median length of α2-adrenergic agonist use, 136 days) and stimulants were prescribed to 322 children (65%; median length of stimulant use, 133 days). Improvement was reported in 66% (95% CI, 57.5%-73.9%) of children who initiated α2-adrenergic agonists and 78% (95% CI, 72.4%-83.4%) of children who initiated stimulants. Only daytime sleepiness was more common for those receiving α2-adrenergic agonists vs stimulants (38% vs 3%); several adverse effects were reported more commonly for those receiving stimulants vs α2-adrenergic agonists, including moodiness/irritability (50% vs 29%), appetite suppression (38% vs 7%), and difficulty sleeping (21% vs 11%). Conclusions and Relevance: In this retrospective review of health records of preschool-age children with ADHD treated in developmental-behavioral pediatric practices, improvement was noted in the majority of children who received α2-adrenergic agonists or stimulants, with differing adverse effect profiles between medication classes. Further research, including from randomized clinical trials, is needed to assess comparative effectiveness of α2-adrenergic agonists vs stimulants.
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Agonistas de Receptores Adrenérgicos alfa 2/uso terapêutico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Guanfacina/uso terapêutico , Metilfenidato/uso terapêutico , Agonistas de Receptores Adrenérgicos alfa 2/efeitos adversos , Estimulantes do Sistema Nervoso Central/efeitos adversos , Pré-Escolar , Distúrbios do Sono por Sonolência Excessiva/induzido quimicamente , Registros Eletrônicos de Saúde , Transtornos da Alimentação e da Ingestão de Alimentos/induzido quimicamente , Feminino , Guanfacina/efeitos adversos , Humanos , Humor Irritável , Masculino , Metilfenidato/efeitos adversos , Estudos RetrospectivosRESUMO
Intensive services are recommended for young children with autism spectrum disorder (ASD). Limited research on service receipt in states with mandated ASD-specific service coverage suggests that it remains low, and factors associated with intensity are unclear. Participants were 206 children from the Boston Outcomes of Autism in Toddlers study living in states with autism mandates, diagnosed with ASD through a multidisciplinary consultation at 12-36 months, and recommended to receive at least 20 h of services weekly. Outcome measures were caregiver-reported receipt of total and ASD-specific services within 18 months of ASD diagnosis. Separate negative binomial regression models were run for each outcome, with covariates of child adaptive and cognitive functioning, age, gender, household income, primary insurance, and maternal educational level. The sample was 83% male with a mean age of 24.5 months at ASD diagnosis. Mean Vineland adaptive behavior composite and Bayley cognitive standard scores were 73 and 81, respectively. 90% of children received ASD-specific services. The median intensities for total and ASD-specific services were 22 and 17 h weekly respectively, with 44% of the participants receiving at least 20 h of ASD-specific services weekly. Adjusted regression models found significant associations between lower adaptive scores and increased total and ASD-specific service receipt. Children in insurance-mandated states received a high intensity of intervention after clinical ASD diagnosis. Lower child adaptive functioning was associated with increased service receipt, while socioeconomic factors were not associated. Additional research in other regions and mandate-ineligible populations is needed.
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OBJECTIVE: To describe the distribution of expressive language abilities of individuals with Down syndrome (DS) in a clinical sample and characterize demographic, environmental, and medical factors associated with varying expressive language profiles. METHODS: Cross-sectional analysis was completed on a sample of 345 individuals with DS between the ages of 4 and 22 years who were enrolled into a longitudinal clinical database between March 2018 and August 2021. Expressive language-related items on a standardized caregiver-reported questionnaire assessing domains of functioning in neurodevelopmental disorders were used to conduct latent variable modeling and determine caregiver-reported expressive language (CREL) classes across the sample. Linear regression was used to explore associations between CREL classes and predictor variables. RESULTS: Latent variable modeling revealed 3 distinct classes of CREL abilities representing higher, middle, and lower CREL. Individuals in the lower CREL class were more likely to be female, to use sign language or visual communication systems, have reduced pronunciation, attend private or residential school, and to be in a substantially separate classroom. Membership was not predicted by complex medical histories or co-occurring neurodevelopmental diagnoses. CONCLUSION: Caregiver-reported expressive language abilities in a cohort of individuals with DS were variable, with most of the individuals belonging to higher or middle CREL classes, relative to one another. Additional studies are indicated to understand factors that predict higher expressive language ability and explore how to direct services to individuals who are at risk of more profound language delays.
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Síndrome de Down , Transtornos do Desenvolvimento da Linguagem , Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Masculino , Síndrome de Down/epidemiologia , Estudos Transversais , Cuidadores , IdiomaRESUMO
BACKGROUND: Outcomes of children diagnosed with autism spectrum disorder (ASD) generally focus on cognition, language, behavioral, and adaptive functioning, yet it is unknown whether this reflects patient and caregiver priorities. OBJECTIVE: Identify parental perceptions of ASD outcomes and identify whether health care providers are currently addressing these concerns. METHODS: Participant were 60 parents of school-aged children previously diagnosed with ASD participating in a larger autism outcomes study. Parents answered the open-ended question, "What aspect of your child's functioning matters most for your child at this time?" They also ranked a list of outcome categories (thinking and reasoning skills, daily living skills, etc). Parents answered a second open-ended question, "What should healthcare providers be asking about how your child is doing, that they may not be currently asking?" Open-ended independent coding and thematic analysis were used to identify themes for the open-ended questions. RESULTS: The most common themes identified with "what aspect of your child's functioning matters most" were "Social," "Communication," "Emotional," and "Behavior." These were similar to the results of a ranking question in which parents ranked "Communicating with and understanding others," "Social skills," and "Behavior" as most important. "Emotional" was a unique theme, although there is potential overlap between this and the theme of "Behavior." The most common theme identified with the question about what health care providers should be asking was "Social," followed by "Nothing." CONCLUSION: This study demonstrates that parental concerns largely match previous outcome categories, with the exception of a theme identified as "Emotional" which may overlap with "Behavior."
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Transtorno do Espectro Autista , Transtorno Autístico , Criança , Humanos , Transtorno do Espectro Autista/diagnóstico , Pais/psicologia , Emoções , IdiomaRESUMO
Neurodevelopmental disorders (NDDs) are frequently associated with gastrointestinal symptoms (GIS) and sleep issues, but there are insufficient data on the occurrence of these symptoms in young children with autism spectrum disorder (ASD) compared with other NDDs. We abstracted data on 500 children aged 18 to 36 months with ASD and 146 children aged 18 to 47 months with non-ASD NDDs to compare the frequency of these symptoms. In the overall sample, there was a high rate of GIS (46.0%) and sleep difficulties (22.6%). In age-adjusted analyses, children with non-ASD NDDs were more likely to have GIS (61.0% vs 41.6%; adjusted odds ratio [OR] = 2.35; 95% confidence interval = 1.56-3.56) and sleep difficulties (34.9% vs 19.0%; adjusted OR = 2.08; 95% confidence interval = 1.33-3.26) compared with those with ASD. These findings demonstrate the need to assess these symptoms in all young children with developmental concerns to provide appropriate guidance to their families.
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Transtorno do Espectro Autista , Transtorno Autístico , Gastroenteropatias , Transtornos do Neurodesenvolvimento , Transtornos do Sono-Vigília , Humanos , Pré-Escolar , Transtorno Autístico/complicações , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Transtornos do Sono-Vigília/epidemiologia , Gastroenteropatias/diagnóstico , Gastroenteropatias/epidemiologia , SonoRESUMO
Importance: While the prevalence of autism spectrum disorder (ASD) continues to increase and early diagnosis is emphasized, there is limited information on outcomes for children diagnosed with ASD in early childhood using contemporary diagnostic criteria. Objectives: To determine the frequency with which children who are clinically diagnosed with ASD at 12 to 36 months of age continue to meet diagnostic criteria for ASD at 5 to 7 years of age and to evaluate whether baseline child-specific and demographic characteristics and receipt of interventions are associated with ASD persistence. Design, Setting, and Participants: In this natural history cohort study, children who received a clinical ASD diagnosis at 12 to 36 months of age underwent a research diagnostic assessment at 5 to 7 years of age. Research assessments occurred from August 14, 2018, to January 8, 2022. Intervention: Children received community-based interventions, and parents provided details about interventions received. Main Outcomes and Measures: The main outcome was persistence of ASD diagnosis based on current functioning. An experienced research psychologist assigned an ASD diagnosis (present or absent) according to criteria from the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) after the research assessment. The research assessment included administration of the Autism Diagnostic Observation Schedule-2, Autism Diagnostic Interview-Research, and a cognitive measure. Results: Of the 213 participants diagnosed with ASD at initial clinical assessment (mean [SD] age, 24.6 [3.9] months; 177 boys [83.1%]), 79 (37.1%) did not continue to meet diagnostic criteria for ASD (nonpersistent ASD) at research assessment (mean [SD] age, 74.3 [7.1] months). All children with nonpersistent ASD had IQ of at least 70, while there was a bimodal distribution of IQ for those with persistent ASD (46 with IQ <70 and 88 with IQ ≥70). All children received some interventions, and 201 (94.4%) received ASD-specific intervention, mostly applied behavioral analysis. In a multilevel logistic regression model, the only variables associated with increased odds of being in the nonpersistent ASD group at 6 years of age were higher baseline adaptive skills (b coefficient = -0.287 [SE, 0.108]) and female sex (b = 0.239 [SE, 0.064]). Conclusions and Relevance: The findings of this cohort study suggest that among toddlers diagnosed with ASD, baseline adaptive function and sex may be associated with persistence of ASD.
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Transtorno do Espectro Autista , Transtorno Autístico , Masculino , Humanos , Pré-Escolar , Feminino , Adulto Jovem , Adulto , Idoso , Criança , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Estudos de Coortes , Modelos Logísticos , PrevalênciaRESUMO
OBJECTIVE: Practice guidelines from the American Academy of Pediatrics and Society for Developmental and Behavioral Pediatrics recommend evidence-based behavioral therapy (BT) as first-line treatment for preschool-age children with ADHD, prior to medication initiation. Thus, this study's objective is to present the frequency of physician-documented receipt of BT in preschool-age children with ADHD prior to medication initiation and to determine factors associated with receipt BT receipt. METHODS: This retrospective medical record review was conducted across 7 Developmental Behavioral Pediatrics Research Network (DBPNet) sites. Data were abstracted for children <72 months old seen by a DBP clinician and initiated on ADHD medication between 1/1/2013-7/1/2017. From narrative text of the medical records, BT receipt was coded as: parent training in behavior management (PTBM), Applied Behavior Analysis (ABA), other, or did not receive. RESULTS: Of the 497 children in this study; 225 children (45%) had reported receipt of any BT prior to ADHD medication initiation, with 15.9% (n = 79) receiving PTBM. Children with co-existing diagnoses of ASD or disruptive behavior disorder were more likely to receive BT than children without co-existing conditions (59.3% vs 69.0% vs 30.6%). There was significant site variability in reported receipt of BT, ranging from 22.4% to 74.1%, and sex and insurance were not associated with BT rates. CONCLUSION: The percentage of children with documented receipt of any BT, and particularly PTBM, was low across all sites and co-existing conditions. These findings highlight the universal need to increase receipt of evidence-based BT for all young children with ADHD.
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Transtorno do Deficit de Atenção com Hiperatividade , Criança , Humanos , Pré-Escolar , Estados Unidos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Estudos Retrospectivos , Aconselhamento , Terapia Comportamental , PediatrasRESUMO
OBJECTIVES: This study aimed to determine whether parent ratings of attention-deficit/hyperactivity disorder (ADHD) symptom severity or externalizing symptoms (EXT) or internalizing symptoms (INT) moderate response to stimulants (STIM) and alpha-2 adrenergic agonists (A2As) in preschool ADHD. METHODS: Health records for children treated with medication for ADHD and with parent rating scale data available (N = 309; age <72 months) were reviewed at 7 Developmental-Behavioral Pediatric Research Network sites. Severity of ADHD was defined as the number of ADHD symptoms occurring often or very often on DSM-IV-based parent rating scales. EXT or INT from standardized rating scales were categorized as T score <60, 60 to <70, or ≥70. Ordinal logistic regression models predicting response to medication were calculated. RESULTS: The median (interquartile range) age at ADHD diagnosis was 59 (54-65) months. One hundred eighty-three participants had ADHD symptom severity, and 195 had EXT or INT data. ADHD severity was not associated with medication response. Both EXT and INT were associated with medication response but with significant medication class by EXT/INT interactions. Children with higher EXT were less likely to respond to STIM, with percentage of nonresponders for T-score categories <60, 60 to <70, and ≥70 being 3.6%, 25.7%, and 33.3% (p = 0.016) and, for A2As, being 60%, 50%, and 33.3% (p = 0.55), respectively. A similar pattern was observed for INT categories: STIM 19.4%, 22.5%, and 50.0% (p = 0.002) and A2As 42.3%, 30%, and 42.3% (p = 0.48), respectively. CONCLUSION: For preschool ADHD, low ratings of EXT or INT are associated with a high likelihood of response to STIM. By contrast, response rates to STIM and A2As are more similar for children with high levels of EXT or INT.
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Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Criança , Pré-Escolar , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Escolaridade , Instituições Acadêmicas , Estimulantes do Sistema Nervoso Central/uso terapêutico , PaisRESUMO
OBJECTIVE: The objective of this study was to identify factors associated with parent-reported problems accessing needed mental health services (MHS) in youth with autism spectrum disorder and anxiety. METHODS: This study is a secondary analysis using the National Survey of Children's Health 2016 to 2017 data sets with multivariable logistic regression. Subjects are 6 to 17 year olds with parent-reported autism spectrum disorder (ASD) and anxiety. Outcome is parent-reported challenge accessing needed mental health treatment, dichotomized to not a problem versus problem. Covariates included race/ethnicity, intellectual disability, insurance, medical home, poverty level, and parent education level. RESULTS: The sample included 568 youth with ASD and anxiety-78% male subjects, mean age 12.5 years, and 63% White, non-Hispanic. Fifty-three percent of youth with ASD and anxiety had parent-reported problems accessing needed MHS. Lack of medical home (adjusted odds ratio [aOR] 5.97, 95% confidence interval [CI] [2.72-13.09]) and coexisting intellectual disability (aOR 2.23, 95% CI [1.08-4.60]) were significantly associated with problems accessing MHS. Reported family incomes at 0% to 99% and 100% to 199% of the federal poverty level as compared with family income at 400% federal poverty level or above (aOR 0.32, 95% CI [0.11-0.94] and aOR 0.35, 95% CI [0.13-0.95], respectively) was associated with decreased problems accessing MHS. CONCLUSION: In this nationally representative study, more than half of youth with ASD and anxiety had parent-reported problems accessing needed MHS. Lack of a medical home, co-occurring intellectual disability, and higher socioeconomic status (SES) are associated with problems accessing MHS. Therefore, policies to support the medical home; increase mental health supports available for those with ASD, anxiety, and coexisting intellectual disability; and support access for all SES levels may increase mental health access.
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Transtorno do Espectro Autista , Deficiência Intelectual , Serviços de Saúde Mental , Adolescente , Ansiedade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Criança , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Pais/psicologiaRESUMO
Compare developmental profiles and core ASD symptom manifestation between male and female toddlers with DSM-5 ASD. Retrospective record review of 500 toddlers (79% male) at time of ASD diagnosis. There were no differences in developmental functioning between males and females. When adjusting for multiple comparisons, sex differences were only noted for sensory seeking behavior occurring at a higher frequency in females. Overall, there were no significant differences in demographic characteristics, developmental functioning, or manifestation of core ASD symptoms between males versus female toddlers at the time of DSM-5 ASD diagnosis.
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OBJECTIVE: Previous studies have reported varying rates of regression in children with autism spectrum disorder (ASD). We sought to (1) determine the rate of clinician-diagnosed regression for young children with ASD and (2) compare developmental functioning and ASD symptoms of children with versus without regression. METHODS: We conducted a retrospective chart review of toddlers (age 18-36 months) with Diagnostic and Statistical Manual-5 ASD. We abstracted cognitive, language, adaptive, and motor functioning standard scores and ASD core symptoms. Regression was defined as "clinician-diagnosed regression accompanied by recommendation for a medical workup." We used propensity scores to match each participant with regression (n = 20) one-to-one with a participant without regression (n = 20). We compared the groups on developmental scores using independent sample t tests and on core ASD symptoms using Pearson's χ 2 test. RESULTS: Of the 500 children with ASD, n = 20 (4%) had regression (defined above). Children with regression had lower Bayley cognitive and language scores and lower Vineland adaptive scores compared with those without regression (cognitive: 78.0 vs 85.5, p < 0.05; language: 56.9 vs 68.2, p < 0.01; adaptive: 70.0 vs 80.3; p < 0.01). There was no difference in motor scores across groups. There were no significant differences in the frequency of exhibiting core ASD symptoms for those with versus without regression. CONCLUSION: In this clinical sample of children with ASD, regression was diagnosed in a small percentage (4%). Those with regression had lower cognitive, language, and adaptive skills compared with those without regression. Rates of clinician-diagnosed regression referred for medical workup are significantly lower than prior estimates based on parent report.
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Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/psicologia , Pré-Escolar , Humanos , Lactente , Estudos RetrospectivosRESUMO
OBJECTIVE: To identify patterns ("classes") of outcomes for adults with and without childhood ADHD. METHOD: Subjects were 232 childhood ADHD cases and 335 non-ADHD referents from a 1976 to 1982 birth cohort. We used latent class analyses to identify classes based on a broad array of adult psychosocial outcomes and determined the proportion of subjects with childhood ADHD within each class. RESULTS: A three class solution provided optimal model fit; classes were termed "good," "intermediate," and "poor" functioning. Subjects with childhood ADHD comprised 62.8% of the "poor," 53.5% of the "intermediate," and 24.9% of the "good" functioning class. The "poor" functioning class was distinguished by increased likelihood of legal trouble and substance use disorders and included more individuals with childhood ADHD and psychiatric disorder than the "intermediate" class (45.5% vs. 30.6%). CONCLUSION: Children with ADHD are at risk for adverse adult outcomes in multiple domains and co-morbid childhood psychiatric disorders increase risk.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtornos Relacionados ao Uso de Substâncias , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Coorte de Nascimento , Criança , Estudos de Coortes , Comorbidade , Humanos , Transtornos Relacionados ao Uso de Substâncias/epidemiologiaRESUMO
Objectives: To determine whether conditions coexisting with attention-deficit/hyperactivity disorder (ADHD) in preschool-age children are associated with choice of stimulants or alpha-2 adrenergic agonists (A2As) and/or likelihood of improvement in ADHD symptoms. Methods: A retrospective electronic health record review of 497 children from 7 Developmental Behavioral Pediatrics Research Network (DBPNet) sites. Children were <72 months when treated with medication for ADHD from January 1, 2013 to July 1, 2017. We abstracted coexisting conditions, initial medication prescribed, and whether the medication was associated with improvement in symptoms. Analysis of improvement was adjusted for clustering by clinician and site. Results: The median (interquartile range) child age at the time of initiation of ADHD medication was 62 (54-67) months. The most common coexisting conditions included language disorders (40%), sleep disorders (28%), disruptive behavior disorders (22.7%), autism spectrum disorder (ASD; 21.8%), and motor disorders (19.9%). No coexisting conditions were present in 17.1%; 1 in 36.8%, 2 in 26.8%, and ≥3 in 19.3%. Stimulants were initially prescribed for 322 (64.8%) and A2A for 175 (35.2%) children. Children prescribed stimulants were more likely to have no coexisting conditions than those prescribed A2A (22.3% vs. 7.4%; p < 0.001). Coexisting ASD and sleep disorder were associated with increased likelihood of starting A2As versus stimulants (p < 0.0005; p = 0.002). The association between medication treatment and improvement varied by number of coexisting conditions for 0, 1, 2, or ≥3, respectively (84.7%, 73.8%, 72.9%, 64.6%; p = 0.031). Children with ≥3 coexisting conditions were less likely to respond to stimulants than children with no coexisting conditions (67.4% vs. 79.9%; p = 0.037). Conclusions: Among preschool-age children with ADHD, those with ≥3 coexisting conditions were less likely to respond to stimulants than those with no coexisting conditions. This was not found for A2A, but further research is needed as very few children with no coexisting conditions were treated with A2A.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Estimulantes do Sistema Nervoso Central , Transtornos do Sono-Vigília , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Criança , Pré-Escolar , Humanos , Estudos Retrospectivos , Transtornos do Sono-Vigília/tratamento farmacológicoRESUMO
OBJECTIVE: To evaluate whether a newly developed autism spectrum disorder (ASD)-training curriculum for hospital security officers improves comfort, knowledge, and practice. METHODS: Participants were security officers. The ASD-training curriculum was a 45-minute interactive session, adapted from trainings developed for other types of hospital providers. The curriculum included information regarding the presentation of, and challenges faced by, children with ASD in the hospital setting. Officers completed surveys before (T1), immediately after (T2), and 3 months after (T3) the training to assess comfort, knowledge, and practice. Comfort (Likert scale 1-5; 5 = highest) and knowledge (11 yes/no questions) questions were adapted from previous measures. Application of skills was assessed using case scenarios (at T1, T2, and T3) and with officers' report of using various strategies (at T1 and T3; Likert scale 1-5; 5 = always). Data were analyzed using repeated-measures analysis of variance and a series of paired contrast. RESULTS: For the 114 officers who completed surveys, mean comfort scores significantly increased from T1 to T2 (3.48 vs 3.9; p < 0.05), and these gains were maintained at T3 (4.1). Mean percent correct on knowledge questions significantly increased from T1 to T2 (74.6% vs 84.0%; p < 0.05) and was maintained at T3 (82.9%). Officers reported using 2 ASD-supportive strategies significantly more between T1 and T3: using pictures and written communication and asking the caregivers for advice. CONCLUSION: This newly developed ASD-training curriculum for hospital security officers resulted in an immediate increase of self-reported comfort and demonstrated knowledge with continued gains 3 months after training.
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Transtorno do Espectro Autista , Transtorno do Espectro Autista/terapia , Cuidadores , Criança , Currículo , Hospitais , Humanos , Inquéritos e QuestionáriosRESUMO
The objective of this study was to identify subgroups of toddlers with DSM-5 ASD based on core ASD symptoms using a person-based analytical framework. This is a retrospective study of 500 toddlers (mean age 26 months, 79% male) with DSM-5 ASD. Data were analyzed using latent class analyses in which profiles were formed based on ASD symptomatology. Social communication (SC) symptoms favored a three-class solution, while restricted/repetitive behaviors (RRBs) favored a two-class solution. Classes with higher consistency of SC deficits were younger, with lower developmental functioning. The class with more RRBs was older, with higher functioning. If confirmed in other populations, these classes may more precisely characterize subgroups within the heterogeneous group of toddlers at time of ASD diagnosis.
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Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Cognição , Comunicação , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
OBJECTIVE: To understand developmental-behavioral pediatricians' (DBPs') use of clinic versus telephone encounters for preschool attention-deficit/hyperactivity disorder (ADHD) medication management. Understanding use of telephone encounters for pharmacologic management of ADHD in preschoolers may inform care for children with ADHD. METHODS: DBP investigators within Developmental Behavioral Pediatrics Research Network abstracted data from medical records of 503 children aged younger than 72 months treated for ADHD with medication by a DBP clinician between January 1, 2013, and July 1, 2017, across 7 sites. We abstracted data about medication treatment episodes (defined as start and end/change of a specific type, dose, and frequency of ADHD medication) and encounter type (clinic vs telephone). We present descriptive statistics related to encounter types and χ2 analyses to compare frequencies across reasons for the end of treatment episode and across sites. RESULTS: The study included 503 participants with a total of 1734 treatment episodes. The initial medication was started via a clinic encounter 85.9% of the time and via telephone encounters 14.1% of the time. When evaluating reasons for end of treatment episode, decreases in dose/frequency of medication were less common for clinic versus telephone encounters (27% vs 73%; p < 0.001) and adding an additional medication was more common at clinic versus telephone encounters (64% vs 36% p < 0.001). Sites varied significantly in frequency of telephone encounters, ranging from 16.9% to 68.9% (mean 45.7%). CONCLUSION: Telephone encounters were used for pharmacologic management of ADHD in preschoolers to varying degrees across 7 DBP sites. These findings suggest that telephone management serves an important role in ADHD care.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Estimulantes do Sistema Nervoso Central , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Criança , Pré-Escolar , Escolaridade , Humanos , Conduta do Tratamento Medicamentoso , Instituições Acadêmicas , TelefoneRESUMO
CASE: Heidi is an almost 6-year-old girl presenting to your primary care office to establish care because of a change in insurance status. You review her previous medical records before seeing her.She was diagnosed with autism spectrum disorder (ASD) when she was 25 months old. Her parents were initially concerned about language delay. Through a comprehensive evaluation by a developmental-behavioral pediatrician and a child psychologist, including administration of the Bayley Scales of Infant and Toddler Development and the Autism Diagnostic Observation Schedule, she was diagnosed with ASD. Her cognitive skills were reported to be within the average range. Soon after the diagnosis, she began receiving 20 hours of applied behavioral analysis (ABA) per week, as well as music therapy, occupational therapy, and a toddler playgroup through early intervention. Four months after the initial diagnosis, her parents reported that she had started making small improvements in her behavior, used more eye contact, and seemed more socially engaged. Approximately 1 year after the diagnosis, she was receiving 6 hours of ABA per week in addition to starting preschool with an Individualized Education Program. She reportedly continued to show progress with social communication and pretend play skills.At the age of 3 years, 8 months, neuropsychological testing was completed at her parent's request, and her cognitive skills and adaptive skills were reported to be within the average range. She continued to meet the diagnostic criteria for ASD, given her challenges with social awareness, communication, delayed play skills, decreased flexibility, and tendency toward subtle self-direction. She continued to receive speech/language therapy and attended an integrated preschool program within the school district because of her social and communication challenges. She also received ABA 4 hours weekly at home.During your first visit with Heidi, her parents report that she has continued to make progress in all areas, including social skills. She can engage in imaginary play with her friends, ask strangers questions, and comprehend the perspective of others, and she is no longer "rigid." She is not receiving services outside of school and is only receiving once weekly speech/language therapy in school. Her parents no longer believe that she meets the criteria for ASD, and they are interested in further evaluation. Her parents ask if it is possible to "lose" the diagnosis of ASD. They also want to know if there are other things to be concerned about for her future. How do you respond?
Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Intervenção Médica Precoce , Criança , Feminino , Humanos , PrognósticoRESUMO
OBJECTIVE: Alcohol use can worsen attention-deficit/hyperactivity disorder (ADHD) symptoms, interfere with treatment, and worsen outcomes. Our objective was to describe parental perceptions of alcohol use for their adolescents with ADHD. METHODS: Parents of adolescents with ADHD completed an online survey about perceptions of adolescent alcohol use for adolescents with ADHD. We described the level of parental concern about the impacts of alcohol use on their adolescent's functioning. We assessed whether specific covariates were associated with the level of parental concern. RESULTS: Of 290 parents who completed the survey, 96.5% were women, and 66.1% had an educational attainment of college degree or higher. Most adolescents (75.4%) took ADHD medication, and 59.9% had comorbid anxiety or depression. Almost one-third (30.3%) of parents perceived that their adolescent was more likely to use alcohol because of ADHD, whereas 34.8% of parents disagreed with this and 34.8% of parents were neutral. Parents who suspected their adolescent regularly used alcohol were less likely to report concern about the impact of alcohol on their adolescent's school performance or ADHD medication effectiveness compared with parents who did not suspect regular adolescent alcohol use. Almost half of the parents (48.5%) did not report discussing the impact of alcohol use on ADHD with their adolescent. CONCLUSION: Many parents of adolescents with ADHD do not understand the unique risks of alcohol use for their adolescents. In addition, if alcohol use harm is not obvious, parents may not perceive there to be concerns about alcohol use on functioning. Parental education about alcohol use and ADHD is needed.