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AIM: To examine the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F), with follow-up screening and diagnostic outcomes for children born preterm. A secondary aim was to examine diagnostic evaluation attendance after screening to inform clinical practice. METHOD: Using a cross-sectional design, 9725 toddlers (4951 males; 4774 females) whose gestational age was reported were screened at 15-month, 18-month, or 24-month well-child visits; screen-positive children were invited for an autism evaluation. Screening measure performance and diagnostic outcomes were evaluated according to preterm classification (Screening: nExtPreterm = 111; nVeryPreterm = 186; nModPreterm = 1122; nFullTerm = 8306; Evaluation: nExtPreterm = 27; nVeryPreterm = 21; nModPreterm = 86; nFullTerm = 301). RESULTS: Screen-positive rates were highest for children born extremely preterm (51.35%) and lowest for children born at term (6.95%). Evaluation attendance for screen-positive cases did not differ according to preterm classification. Rates of autism diagnoses differed depending on preterm birth status: for children born extremely preterm, it was 16.05%; for children born very preterm, it was 2.00%; for children born moderately preterm, it was 2.89%; and for children born at term, it was 1.49%. M-CHAT-R/F sensitivity decreased with increasing gestational age, whereas specificity improved with increasing gestational age. Positive predictive value was highest for children born extremely preterm and children born at term. Negative predictive value was consistently strong across all groups. The likelihood ratio for positive screening increased with gestational age. INTERPRETATION: The sensitivity and specificity of the M-CHAT-R/F are acceptable in toddlers born preterm. Autism screening-positive rates and prevalence increased with earlier preterm birth. Those born extremely preterm showed the greatest likelihood of an autism diagnosis; screening should not be delayed based on adjusted age.
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OBJECTIVE: Teletesting has the potential to reduce numerous barriers to patient care which have only become exacerbated during the COVID-19 pandemic. Although telehealth is commonly utilized throughout medicine and mental health practices, teletesting has remained limited within cognitive and academic evaluations. This may be largely due to concern for the validity of test administration via remote assessment. This cross-sectional study examined the equivalency of cognitive [Wechsler Intelligence Scales for Children - Fifth Edition (WISC-V)] and academic [Kaufman Test of Educational Achievement - Third Edition (KTEA-3)] subtests administered via either teletesting or traditional in-person testing within clinically referred youth. METHOD: Chart review using a retrospective, cross-sectional design included a total of 893 children and adolescents, ranging from 4 to 17 years (Mean age = 10.2 years, SD = 2.9 years) who were administered at least one subtest from the aforementioned cognitive or academic assessments. Of these, 285 received teletesting, with the remaining (n = 608) receiving in-person assessment. A total of seven subtests (five from the WISC-V and two from the KTEA-3) were examined. A series of inverse probability of exposure weighted (IPEW) linear regression models examined differences between groups for each of the seven subtests after adjustment for numerous demographic, diagnostic, and parent-reported symptom variables. RESULTS: Only two significant differences were found, such that WISC-V Visual Puzzles (p < .01) and KTEA-3 Math Concepts (p = .03) scores were slightly higher in the teletesting versus in-person groups. However, these differences were quite small in magnitude (WISC-V Visual Puzzles, d = .33, KTEA-3 Math Concepts, d = .18). CONCLUSIONS: Findings indicate equivalency across methods of service delivery without clinically meaningful differences in scores among referred pediatric patients.
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COVID-19 , Pandemias , Adolescente , Criança , Estudos Transversais , Humanos , Estudos Retrospectivos , Escalas de WechslerRESUMO
OBJECTIVE: To evaluate timing and accuracy of early and repeated screening for autism spectrum disorder (ASD) during well-child visits. STUDY DESIGN: Using a longitudinal study design, toddlers (n = 5784) were initially screened at 12 (n = 1504), 15 (n = 1228), or 18 (n = 3052) months during well-child visits, and rescreened at 18, 24, and 36 months. Of those screened, 368 toddlers attended an ASD evaluation after a positive screen and/or a provider concern for ASD at any visit. RESULTS: Screens initiated at 12 months yielded an ASD diagnosis significantly earlier than at 15 months (P = .003, d = 0.99) and 18 months (P < .001, d = 0.97). Cross-group overall sensitivity of the initial screen was .715 and specificity was .959. Repeat screening improves sensitivity (82.1%), without notably decreasing specificity (all >93.5%). Screening at 18 months resulted in significantly higher positive predictive value than at 12 months (X2 (1, n = 221) = 9.87, P = .002, OR = 2.60) and 15 months (X2 (1, n = 208) = 14.57, P < .001, OR = 3.67). With repeat screening, positive predictive value increased for all screen groups, but the increase was not significant. CONCLUSIONS: Screening as early as 12 months effectively identifies many children at risk for ASD. Children screened at 12 months receive a diagnosis of ASD significantly earlier than peers who are first screened at later ages, facilitating earlier intervention. However, as the sensitivity is lower for a single screen, screening needs to be repeated.
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Transtorno do Espectro Autista/diagnóstico , Programas de Rastreamento/métodos , Fatores Etários , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Testes Neuropsicológicos , Psicometria , Sensibilidade e EspecificidadeRESUMO
OBJECTIVES: As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome (DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmental framework. METHODS: A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development. RESULTS: The majority of DS structural neuroimaging studies describe gross differences in brain morphometry and do not use advanced neuroimaging methods to provide nuanced descriptions of the brain. There is evidence for smaller total brain volume (TBV), total gray matter (GM) and white matter, cortical lobar, hippocampal, and cerebellar volumes. When reductions in TBV are accounted for, specific reductions are noted in subregions of the frontal lobe, temporal lobe, cerebellum, and hippocampus. A review of cortical lobar effect sizes reveals mostly large effect sizes from early childhood through adolescence. However, deviance is smaller in adolescence. Despite these smaller effects, frontal GM continues to be largely deviant in adolescence. An examination of age-frontal GM relations using effect sizes from published studies and data from Lee et al. (2016) reveals that while there is a strong inverse relationship between age and frontal GM volume in controls across childhood and adolescence, this is not observed in DS. CONCLUSIONS: Further developmentally focused research, ideally using longitudinal neuroimaging, is needed to elucidate the nature of the DS neuroanatomic phenotype during childhood and adolescence. (JINS, 2018, 24, 966-976).
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Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Síndrome de Down/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-NascidoRESUMO
PURPOSE OF REVIEW: In this review, we summarize current knowledge and hypotheses on the nature of social abnormalities in autism spectrum disorder (ASD) and Williams syndrome (WS). RECENT FINDINGS: Social phenotypes in ASD and WS appear to reflect analogous disruptions in social cognition, and distinct patterns of social motivation, which appears to be reduced in ASD and enhanced in WS. These abnormalities likely originate from heterogeneous vulnerabilities that disrupt the interplay between domain-general and social domain-specific cognitive and motivational processes during early development. Causal pathways remain unclear. Advances and research gaps in our understanding of the social phenotypes in ASD and WS highlight the importance of (1) parsing the construct of sociability, (2) adopting a developmental perspective, (3) including samples that are representative of the spectrum of severity within ASD and WS in neuroscientific research, and (4) adopting transdiagnostic treatment approaches to target shared areas of impairment across diagnostic boundaries.
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Transtorno do Espectro Autista/psicologia , Transtornos do Neurodesenvolvimento/psicologia , Comportamento Social , Síndrome de Williams/psicologia , HumanosRESUMO
BACKGROUND: Pediatric cancer is associated with a host of negative psychosocial consequences; however, outcomes vary extensively suggesting a need to better understand this variation. Empirical research suggests a positive association between time since diagnosis (TSD) and Quality of Life (QoL). In addition to TSD, family stressors have been found to be particularly important in predicting QoL among children. The current study examined parental chronic stress beyond TSD in explanation of QoL functioning among a sample of pediatric patients with cancer. PROCEDURE: Participants included 43 pediatric patients aged 5-18 years (M(age) = 10.2 ± 3.6) who were undergoing oncological treatment. Parents reported on TSD, child's QoL, and their own chronic stress. RESULTS: TSD was associated with greater physical functioning (r = 0.30, P < 0.05). Parental chronic stress was associated with poorer emotional (r = -0.54, P < 0.01), physical (r = -0.41, P < 0.01), and social functioning (r = -0.44, P < 0.01). Further, hierarchal linear regression analyzes indicated parental chronic stress contributed incrementally beyond TSD in the explanation of physical (ß = -0.37, t = -2.58, P < 0.01), emotional (ß = -0.47, t = -3.51, P < 0.00), and social functioning (ß = -0.38, t = -2.67, P < 0.01). CONCLUSIONS: Parental chronic stress is associated with reduced levels of emotional, physical, and social functioning among pediatric patients. Future research is needed to further investigate the process by which chronic stress within the family interferes with adaptive coping among pediatric patients. In addition, clinical services may benefit from increased consideration of family factors, such as parental chronic stress, during oncological treatment.
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Adaptação Psicológica , Neoplasias/psicologia , Pais/psicologia , Qualidade de Vida , Estresse Psicológico , Adolescente , Criança , Pré-Escolar , Doença Crônica , Feminino , Humanos , Masculino , Neoplasias/diagnóstico , Relações Pais-Filho , Inquéritos e QuestionáriosRESUMO
The Physical and Neurological Examination of Subtle Signs (PANESS) is a brief neuromotor exam designed for use in children. This study examined the inter-rater reliability of PANESS scoring using video review in 23 typically developing youth, aged 10-18 years, who were either never-concussed or evaluated following clinical recovery from concussion. Moderate to excellent inter-rater reliability was identified across PANESS subscores and total score. The strongest inter-rater reliability was observed for the Timed Motor portion of the PANESS (ICCs >.90) suggesting that this section in particular may be a strong candidate for video-based scoring or telehealth administration.
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Concussão Encefálica , Criança , Adolescente , Humanos , Reprodutibilidade dos Testes , Concussão Encefálica/diagnóstico , Exame NeurológicoRESUMO
Importance: Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child's development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later. Objective: To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years. Design, Setting, and Participants: In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019. Main Outcomes and Measures: Prespecified primary end points were the sensitivity and specificity of the eye-tracking-based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking-based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability. Results: Data were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children's individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively. Conclusions and Relevance: In two diagnostic studies of children younger than 3 years, objective eye-tracking-based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment.
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Transtorno do Espectro Autista , Transtorno Autístico , Feminino , Humanos , Masculino , Transtorno do Espectro Autista/diagnóstico , Transtorno Autístico/diagnóstico , Cognição , Diagnóstico Precoce , Estudos Prospectivos , Lactente , Pré-Escolar , Método Duplo-CegoRESUMO
Neuropsychologists working in a pediatric neurorehabilitation setting provide care for children and adolescents with acquired brain injuries (ABI) and play a vital role on the interdisciplinary treatment team. This role draws on influences from the field of clinical neuropsychology and its pediatric subspecialty, as well as rehabilitation psychology. This combination of specialties is uniquely suited for working with ABI across the continuum of recovery. ABI recovery often involves a changing picture that spans across stages of recovery (e.g., disorders of consciousness, confusional state, acute cognitive impairment), where each stage presents with distinctive characteristics that warrant a specific evidence-based approach. Assessment and intervention are used reciprocally to inform diagnostics, treatment, and academic planning, and to support patient and family adjustment. Neuropsychologists work with the interdisciplinary teams to collect and integrate data related to brain injury recovery and use this data for treatment planning and clinical decision making. These approaches must often be adapted and adjusted in real time as patients recover, demanding a dynamic expertise that is currently not supported through formal training curriculum or practice guidelines. This paper outlines the roles and responsibilities of pediatric rehabilitation neuropsychologists across the stages of ABI recovery with the goal of increasing awareness in order to continue to develop and formalize this role.
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Lesões Encefálicas , Neuropsicologia , Adolescente , Humanos , Criança , Lesões Encefálicas/complicações , MotivaçãoRESUMO
OBJECTIVE: Children with perinatal stroke are at increased risk for developmental language disorders, learning difficulties, and other mental health conditions. However to date, autism (ASD) prevalence in this group has not been reported. Given that early identification of ASD is essential to promoting optimal outcomes, our goal was to establish prevalence of ASD in children with perinatal stroke. METHOD: A prospectively enrolled, single-center stroke registry maintained at our institution since 2005 was queried for all potentially eligible patients with a history of perinatal stroke. Information regarding stroke features, ASD diagnosis/concern, intellectual disability/global developmental delay, cerebral palsy/hemiparesis, epilepsy, and language disorder were collected via retrospective chart review from electronic health records. RESULTS: 311 children were identified, of which 201 complete records were analyzed. Twenty-three cases were formally diagnosed with ASD (11.4%). First concerns were noted in toddlerhood (Mage = 2.66 years), yet the average age of diagnosis was 6.26 years. Children with ASD were more likely to have earlier diagnoses of intellectual disability/global developmental delay or a mixed receptive-expressive language disorder (ps < .001) but did not differ on CP/hemiplegia or epilepsy diagnoses. Risk for ASD increased with accumulating diagnoses. DISCUSSION: Children with perinatal stroke have an increased prevalence of ASD (11.4%) than in the general population. ASD concerns arise at a similar age as the general population, yet ASD is diagnosed almost two years later than the general population and 3.60 years after first concerns present. Co-occurring neurological conditions are common. Clinicians must be aware of increased prevalence and implement screening as part of routine care for all pediatric patients with perinatal stroke.
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Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos da Linguagem , Acidente Vascular Cerebral , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Humanos , Deficiência Intelectual/epidemiologia , Testes Neuropsicológicos , Prevalência , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologiaRESUMO
BACKGROUND: Down syndrome is associated with poor sleep but little is known about its neural correlates. AIMS: The current research compared brain morphometry in youth with Down syndrome with parent-reported sleep problems (DS-S) to peers with Down syndrome (DS) and typical development (TD) without parent-reported sleep problems matched on age (M = 15.15) and sex ratio (62 % female). METHODS AND PROCEDURES: Magnetic resonance imaging was completed on a 3 T scanner. Participants were stratified into groups based on parent-report: DS-S (n = 17), DS (n = 9), TD (n = 22). Brain morphometry, processed with the FreeSurfer Image Analysis Suite, was compared across groups. In addition, the co-occurrence of medical conditions in the DS groups was examined. OUTCOMES AND RESULTS: Youth with DS-S had reduced total, frontal, parietal, and temporal brain volumes relative to DS and TD peers. They also had higher rates of congenital heart defects than the DS-only group; however, this comorbidity did not appear to account for morphometry differences. CONCLUSIONS AND IMPLICATIONS: Parent-reported sleep problems in DS appear to relate to global and localized volume reductions. These preliminary results have implications for understanding the neural correlates of poor sleep in DS; they also highlight the importance of examining relations between sleep and other medical comorbidities.
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OBJECTIVE: The prevalence of comorbid autism spectrum disorder (ASD) in children with Down syndrome (DS) is estimated to be around 16%. This study aims to fill gaps in the literature by describing developmental and behavioral phenotypes in this group relative to those with DS or ASD in isolation. METHODS: Participants included 173 children (Mage = 73 months) with ASD, DS, or DS + ASD. Two 3 × 2 repeated-measures analyses of variance were completed with between-subject factors of the diagnostic group (DS, ASD, and DS + ASD) and within-subject factors of cognitive performance (verbal and nonverbal developmental quotient [DQ]) or ASD symptoms (social affect [SA] and restricted and repetitive behaviors [RRBs]). RESULTS: Significant group-by-scale interactions were found, and pairwise comparisons revealed that for verbal DQ, DS + ASD < DS, ASD, whereas for nonverbal DQ, DS + ASD < DS < ASD. For SA, DS < DS + ASD < ASD, whereas for RRB, DS, DS + ASD < ASD. CONCLUSION: Findings suggest greater cognitive impairment in DS + ASD on both verbal and nonverbal measures. Despite these significant cognitive challenges, ASD symptoms appeared less severe in DS + ASD relative to peers with ASD in isolation, although SA symptoms were elevated over DS-only. This unique DS + ASD presentation has important implications for early identification and intervention. Given previous research suggesting relative social strengths in DS and less severe ASD symptoms documented in this study, future research may benefit from investigating different aspects of SA (i.e., components related to reciprocal social interaction vs. social communication) in those with DS + ASD to more clearly delineate the social phenotype in this group and potentially inform intervention efforts.
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Transtorno do Espectro Autista/fisiopatologia , Disfunção Cognitiva/fisiopatologia , Síndrome de Down/fisiopatologia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Comorbidade , Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Feminino , Humanos , Masculino , Fenótipo , Comportamento SocialRESUMO
Objective: To describe the challenges related to COVID-19 affecting pediatric neuropsychologists practicing in inpatient brain injury rehabilitation settings, and offer solutions focused on face-to-face care and telehealth.Methods: A group of pediatric neuropsychologists from 12 pediatric rehabilitation units in North America and 2 in South America have met regularly since COVID-19 stay-at-home orders were initiated in many parts of the world. This group discussed challenges to clinical care and collaboratively problem-solvedsolutions.Results: Three primary challenges to usual care were identified, these include difficulty providing 1) neurobehavioral and cognitive assessments; 2) psychoeducation for caregivers and rapport building; and 3) return to academic instruction and home. Solutions during the pandemic for the first two areas focus on the varying service provision models that include 1) face-to-face care with personal protective equipment (PPE) and social distancing and 2) provision of care via remote methods, with a focus on telehealth. During the pandemic,neuropsychologists generally combine components of both the face-to-face and remote care models. Solutions to the final challenge focus on issues specific to returning to academic instruction and home after an inpatient stay.Conclusions: By considering components of in-person and telehealth models of patient care during the pandemic, neuropsychologists successfully serve patients within the rehabilitation setting, as well as the patient's family who may be limited in their ability to be physically present due to childcare, illness, work-related demands, or hospital restrictions.