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1.
J Clin Child Adolesc Psychol ; : 1-13, 2020 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-31951755

RESUMO

Objective: We evaluated trajectories of attention-deficit/hyperactivity (ADHD)-relevant behaviors in a sample of infants at high and low familial risk for ADHD who were prospectively evaluated at 12, 18, and 24 months of age.Method: Participants included 43 infants at risk for ADHD based on family history (i.e., diagnosed first-degree relative) and 40 low-risk infants (i.e., no family history of ADHD). Instances of inattention, out-of-seat, and grabbing behavior were coded from video; analogous constructs were rated by examiners unaware of familial risk status after completing structured standardized assessments with the infants/toddlers. At the end of each study visit, examiners solicited parents' concerns about their child's behavior. Differences in ADHD-related behaviors and parent concerns were examined between 12 and 24 months of age.Results: Infants with an older sibling or parent diagnosed with ADHD were distinguishable from infants with no family history of ADHD as early as 12 months of age based on directly observed and examiner reports of behavior, particularly with respect to hyperactive-impulsive behavior. Parents of infants at familial risk for ADHD also reported significantly more behavior/temperament concerns as early as 12 months of age compared to parents of infants at low risk for ADHD.Conclusions: These findings highlight the ability to detect genetic liability for ADHD by the end of the first year of life, suggesting that well-designed family risk studies of ADHD are feasible and may be clinically valuable. They also suggest the potential for earlier detection of risk for ADHD than has previously been possible.

2.
J Autism Dev Disord ; 2020 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-31974800

RESUMO

Diminished response to name, a potential early marker of autism spectrum disorder (ASD), may also indicate risk for other disorders characterized by attention problems, including attention-deficit/hyperactivity disorder (ADHD). Using a familial risk design, we examined whether response to name ability at 6, 12, 18, 24, and 36 months of age differed between three 36-month outcome groups: ASD, ADHD Concerns, or a Comparison group. Persistent differences between the ASD and Comparison groups were evident beginning at 12 months; differences between the ADHD Concerns and Comparison groups were evident between 12 and 18 months only. Results suggest that response to name may be a general marker for ASD and ADHD risk in infancy but a specific indicator of ASD by 24-months.

3.
J Child Psychol Psychiatry ; 61(1): 88-94, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31369150

RESUMO

BACKGROUND: Signs of autism are present in the first 2 years of life, but the average age of diagnosis lags far behind. Instruments that improve detection of autism risk in infancy are needed. This study developed and tested the psychometric properties of a novel video-based approach to detecting ASD in infancy. METHODS: A prospective longitudinal study of children at elevated or lower risk for autism spectrum disorder was conducted. Participants were 76 infants with an older sibling with ASD and 37 infants with no known family history of autism. The Video-referenced Infant Rating System for Autism (VIRSA) is a web-based application that presents pairs of videos of parents and infants playing together and requires forced-choice judgments of which video is most similar to the child being rated. Parents rated participants on the VIRSA at 6, 9, 12, and 18 months of age. We examined split-half and test-retest reliability; convergent and discriminant validity; and sensitivity, specificity, and negative and positive predictive value for concurrent and 36-month ASD diagnoses. RESULTS: The VIRSA demonstrated satisfactory reliability and convergent and discriminant validity. VIRSA ratings were significantly lower for children ultimately diagnosed with ASD than children with typical development by 12 months of age. VIRSA scores at 18 months identified all children diagnosed with ASD at that age, as well as 78% of children diagnosed at 36 months. CONCLUSIONS: This study represents an initial step in the development of a novel video-based approach to detection of ASD in infancy. The VIRSA's psychometric properties were promising when used by parents with an older affected child, but still must be tested in community samples with no family history of ASD. If results are replicated, then the VIRSA's low-burden, web-based format has the potential to reduce disparities in communities with limited access to screening.

4.
Arch Pathol Lab Med ; 2019 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-31816269

RESUMO

CONTEXT.­: Clinical decision support (CDS) systems could assist less experienced pathologists with certain diagnostic tasks for which subspecialty training or extensive experience is typically needed. The effect of decision support on pathologist performance for such diagnostic tasks has not been examined. OBJECTIVE.­: To examine the impact of a CDS tool for the classification of ovarian carcinoma subtypes by pathology trainees in a pilot observer study using digital pathology. DESIGN.­: Histologic review on 90 whole slide images from 75 ovarian cancer patients was conducted by 6 pathology residents using: (1) unaided review of whole slide images, and (2) aided review, where in addition to whole slide images observers used a CDS tool that provided information about the presence of 8 histologic features important for subtype classification that were identified previously by an expert in gynecologic pathology. The reference standard of ovarian subtype consisted of majority consensus from a panel of 3 gynecologic pathology experts. RESULTS.­: Aided review improved pairwise concordance with the reference standard for 5 of 6 observers, by 3.3% to 17.8% (for 2 observers, increase was statistically significant) and mean interobserver agreement by 9.2% (not statistically significant). Observers benefited the most when the CDS tool prompted them to look for missed histologic features that were definitive for a certain subtype. Observer performance varied widely across cases with unanimous and nonunanimous reference classification, supporting the need for balancing data sets in terms of case difficulty. CONCLUSIONS.­: Findings showed the potential of CDS systems to close the knowledge gap between pathologists for complex diagnostic tasks.

5.
Autism Res ; 12(11): 1706-1718, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31355545

RESUMO

The Social Responsiveness Scale (SRS) has been validated in high-income countries but not yet in low- and middle-income countries. We aimed to assess the reliability of the SRS in a community sample and its validity to discriminate between children with and without autism spectrum disorder (ASD) in Vietnam. We used a three-phase study: piloting the translated SRS, reliability testing, and validation of the SRS in 158 Vietnamese caretakers and their children (ages 4-9 years). We examined reliability, validity and sensitivity, and specificity to ASD diagnosis. We applied receiver operator characteristic (ROC) analysis to determine optimal cutoff scores discriminating the children with ASD from those without ASD. We also assessed the performance of the SRS short form. We found that reliability was good with high internal consistency (0.88-0.89), test-retest reliability (0.82-0.83), sensitivity (93%), and specificity (98%) for identification of children with ASD. The ROC curves were similar for total raw score and total T-score, with the area under the curve (AUC) values reaching 0.98 and the optimal cutoff of 62 for raw scores and 60 for T-scores. The SRS short form also performed well in distinguishing children with ASD from children without ASD, with high AUC (0.98), sensitivity (90%), and specificity (98%) when using a raw score of 15 as a cutoff. In conclusion, the translated and culturally adapted SRS shows good reliability, validity, and sensitivity for identification of children with ASD in Vietnam. Both SRS long and short forms performed adequately to discriminate between children with and without ASD. Autism Res 2019, 00: 1-13. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Middle-income countries often lack validated tools to evaluate autism symptoms. The Social Responsiveness Scale (SRS) translated to Vietnamese was reliable and performed well to distinguish between children with and without autism spectrum disorder in Vietnam. The Vietnamese SRS, and translations of the tool to other languages with this methodology, may be useful in pediatric practice, potentially allowing providers to make more appropriate referrals for diagnostic evaluations and identify children for intervention to help them fulfill their developmental potential.

6.
Sci Total Environ ; 670: 717-731, 2019 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-30909048

RESUMO

Achieving sufficient, safe, continuously-available drinking water services in rural areas is a challenge, in high- and especially low-and middle-income countries. External support programs (ESPs) - which may include administrative, financial, and technical assistance - have been hypothesized to contribute to sustainable rural water services. While there are many descriptions of ESPs, a standard terminology and typology of ESP activities does not exist and the effect of ESP activities on system sustainability remains inadequately characterized. We conducted a systematic review of ESPs for rural drinking water systems to identify ESP terminology and describe ESP activities. Findings from 218 publications from low-, middle-, and high-income countries were analyzed. ESP terms were used inconsistently between regions and income classifications. There were few studies describing ESP activities related to mechanized piped water systems. Few studies quantitatively assess the effect of ESPs. Those that did found positive associations with functionality, household satisfaction, household participation, and financial stability. This review is the first comprehensive evaluation of the ESP literature and we derive a definition of external support programs and typology of ESP activities from the descriptions of ESPs. A common understanding of ESPs facilitates discussion and knowledge transfer between stakeholders. Consistent terminology creates a foundation for adapting ESPs to water services in community institutions and for mechanized piped water systems.

7.
Biol Psychiatry ; 85(9): 752-759, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30826071

RESUMO

BACKGROUND: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (ß3, α5, γ3). Individuals with deletions are generally more impaired than those with other genotypes, but the underlying pathophysiology remains largely unknown. Here, we used electroencephalography (EEG) to test the hypothesis that genes other than UBE3A located on 15q11-q13 cause differences in pathophysiology between AS genotypes. METHODS: We compared spectral power of clinical EEG recordings from children (1-18 years of age) with a deletion genotype (n = 37) or a nondeletion genotype (n = 21) and typically developing children without Angelman syndrome (n = 48). RESULTS: We found elevated theta power (peak frequency: 5.3 Hz) and diminished beta power (peak frequency: 23 Hz) in the deletion genotype compared with the nondeletion genotype as well as excess broadband EEG power (1-32 Hz) peaking in the delta frequency range (peak frequency: 2.8 Hz), shared by both genotypes but stronger for the deletion genotype at younger ages. CONCLUSIONS: Our results provide strong evidence for the contribution of non-UBE3A neuronal pathophysiology in deletion AS and suggest that hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster causes abnormal theta and beta EEG oscillations that may underlie the more severe clinical phenotype. Our work improves the understanding of AS pathophysiology and has direct implications for the development of AS treatments and biomarkers.

8.
Am J Sports Med ; 47(5): 1216-1222, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30848659

RESUMO

BACKGROUND: Platelet-rich plasma (PRP) is an autologous orthobiologic treatment option for musculoskeletal conditions with favorable results in a limited number of high-quality clinical trials. Because different blood-processing methods result in PRP with varying cellular and growth factor content, it is critical that clinicians understand the content of the specific PRP being used in clinical practice. One adjustable system, the Angel System, has few independent laboratory reports on the specific composition of its PRP. The goal of this study was to quantify the cellular and growth factor composition of PRP produced by this system at its lowest hematocrit settings. HYPOTHESIS: The authors hypothesized that the system would significantly concentrate platelets over baseline and, at the lowest hematocrit settings, would reduce leukocytes to produce leukocyte-poor PRP. STUDY DESIGN: Descriptive laboratory study. METHODS: Ten healthy male volunteers donated 150 mL of whole blood for processing. Three separate processing cycles were performed for each sample at the 0%, 1%, and 2% hematocrit settings. The resultant PRP from each cycle was sent for complete blood counts and enzyme-linked immunosorbent assay to quantify the following growth factors: platelet-derived growth factor (PDGF), basic fibroblast growth factor (bFGF), insulin-like growth factor-1 (IGF-1), and vascular endothelial growth factor (VEGF). RESULTS: The system consistently concentrated platelets 5-fold over baseline, with no significant differences among settings. Leukocytes were concentrated at all settings, between 2 and 5 times over baseline. The 0% and 1% settings had significantly lower leukocyte concentrations than the 2% setting. Lymphocytes made up >89% of the leukocyte differential, while neutrophils represented <11% of the differential at each setting. There was a significant increase in PDGF and bFGF, a significant decrease in IGF-1, and no change in VEGF, with no difference among settings. CONCLUSION: The system consistently concentrated platelets 5 times but was unable to reduce leukocytes, therefore resulting in leukocyte-rich PRP at each setting tested. Leukocytes had a differential composition of >89% lymphocytes and <11% neutrophils. For all settings, PDGF and bFGF were concentrated; IGF-1 was reduced; and VEGF was not significantly different from baseline. CLINICAL RELEVANCE: These data can serve to guide clinicians considering using this particular PRP system. It consistently yielded leukocyte-rich PRP with a lymphocyte-predominant/neutrophil-reduced profile. Further research is needed to better understand how to apply this specific PRP in clinical practice.

9.
PLoS One ; 14(2): e0212553, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30789962

RESUMO

Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. Complete loss of MECP2 function in males causes congenital encephalopathy, neurodevelopmental arrest, and early lethality. Induced pluripotent stem cell (iPSC) lines from male patients harboring mutations in MECP2, along with control lines from their unaffected fathers, give us an opportunity to identify some of the earliest cellular and molecular changes associated with MECP2 loss-of-function (LOF). We differentiated iPSC-derived neural progenitor cells (NPCs) using retinoic acid (RA) and found that astrocyte differentiation is perturbed in iPSC lines derived from two different patients. Using highly stringent quantitative proteomic analyses, we found that LIN28, a gene important for cell fate regulation and developmental timing, is upregulated in mutant NPCs compared to WT controls. Overexpression of LIN28 protein in control NPCs suppressed astrocyte differentiation and reduced neuronal synapse density, whereas downregulation of LIN28 expression in mutant NPCs partially rescued this synaptic deficiency. These results indicate that the pathophysiology of RTT may be caused in part by misregulation of developmental timing in neural progenitors, and the subsequent consequences of this disruption on neuronal and glial differentiation.


Assuntos
Células-Tronco Pluripotentes Induzidas/citologia , Proteína 2 de Ligação a Metil-CpG/genética , Neuroglia/citologia , Proteínas de Ligação a RNA/genética , Diferenciação Celular , Linhagem Celular , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Mutação com Perda de Função , Masculino , Células-Tronco Neurais/citologia , Células-Tronco Neurais/metabolismo , Neuroglia/metabolismo , Proteômica
10.
Clin Psychol Rev ; 68: 54-70, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30658861

RESUMO

Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are both neurodevelopmental disorders originating in childhood with high associated impairments and public health significance. There has been growing recognition of the frequent co-occurrence, and potential interrelatedness, between ADHD and ASD without intellectual disability. In fact, the most recent (5th) edition of the DSM is the first to allow ADHD and ASD to be diagnosed in the same individual. The study of transdiagnostic features in ADHD and ASD is important for understanding, and treating, these commonly co-occurring disorders. Social impairment is central to the description and prognosis of both disorders, and many youth with some combination of ADHD and ASD present to clinics for social skills training interventions. However, the aspects of social functioning that are impaired may have both shared and distinct features between the two disorders, relating to some overlapping and some diverse etiologies of social problems in ADHD compared to ASD. These findings have implications for interventions to address social problems in youth with these conditions. We conclude with a discussion about areas for future research and novel intervention targets in youth with ADHD, ASD, and their comorbidity.

11.
Brain ; 142(2): 239-248, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30649225

RESUMO

With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. Rett syndrome features an interesting challenge for biologists and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes. Genetic, clinical, and neurobiological evidences support the notion that Rett syndrome is primarily a synaptic disorder, and a disease model for both intellectual disability and autism spectrum disorder. This review examines major developments in both recent neurobiological and preclinical findings of Rett syndrome, and to what extent they are beginning to impact our understanding and management of the disorder. It also discusses potential applications of knowledge on synaptic plasticity abnormalities in Rett syndrome to its diagnosis and treatment.


Assuntos
Plasticidade Neuronal/fisiologia , Síndrome de Rett/diagnóstico , Síndrome de Rett/terapia , Sinapses/metabolismo , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Síndrome de Rett/genética , Síndrome de Rett/metabolismo , Sinapses/patologia , Resultado do Tratamento
12.
J Child Psychol Psychiatry ; 60(5): 516-523, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30506566

RESUMO

BACKGROUND: The 'dysregulation profile' (DP) is a measure of emotional and behavioral dysregulation that may cut across diagnostic boundaries. Siblings of children with autism spectrum disorder (ASD) who do not develop ASD themselves are at risk for atypical outcomes including behavioral challenges and therefore may be a useful population in which to investigate the structure of the DP in preschoolers. METHODS: We sought to examine the factor structure and predictors of the DP in a sample enriched for a wide range of phenotypic variation-36-month-olds with and without family histories of ASD-and to determine whether children with genetic liability for ASD are at risk for a phenotype characterized by elevated dysregulation. Data were collected from 415 children with (n = 253) and without (n = 162) an older sibling with ASD, all without ASD themselves, at 18, 24, and 36 months of age. RESULTS: Our findings replicate prior reports, conducted in predominantly clinically referred and older samples, supporting the superiority of a bifactor model of the DP in the preschool period compared to the second-order and one-factor models. Examiner ratings were longitudinally and concurrently associated with the DP at 36 months of age. Family history of ASD was associated with higher dysregulation in the Anxious/Depressed dimension. CONCLUSIONS: These findings support the relevance of examining the structure of psychopathology in preschoolers and suggest that examiner observations as early as 18 months of age, particularly of overactivity, may help identify risk for later DP-related concerns. Non-ASD preschoolers with family histories of ASD may be at risk for a phenotype characterized by elevated dysregulation particularly in the Anxious/Depressed dimension by age 3.

13.
JAMA Pediatr ; 173(2): 147-152, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30535156

RESUMO

Importance: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are believed to partially share genetic factors and biological influences. As the number of children with these diagnoses rises, so does the number of younger siblings at presumed risk for ADHD and ASD; reliable recurrence risk estimates within and across diagnoses may aid screening and early detection efforts and enhance understanding of potential shared causes. Objective: To examine within-diagnosis sibling recurrence risk and sibling cross-aggregation of ADHD and ASD among later-born siblings of children with either disorder. Design, Setting, and Participants: Using data extracted from medical records of 2 large health care systems in the United States, estimates of recurrence risk and cross-aggregation in later-born siblings of children with ADHD or ASD were compared with later-born siblings of children without these diagnoses. One data set included children seen between January 1, 1995, and December 31, 2013; the other included children born between January 1, 1998, and May 17, 2010. Participants included 15 175 later-born siblings of children with ADHD, ASD, and no known diagnosis. The study was conducted from October 2, 2017, to August 14, 2018. Main Outcomes and Measures: Diagnoses of ASD or ADHD in the later-born sibling, ascertained from medical records, were the primary outcomes of interest; moderators included sex, gestational age, and maternal age. Results: A total of 15 175 later-born siblings were classified by familial risk status based on the older child's diagnostic status: ADHD risk (n = 730; male [51.92%]), ASD risk (n = 158; male [48.10%]), and no known risk (n = 14 287; male [50.73%]). Compared with later-born siblings of children without ADHD or ASD, later-born siblings of children with ASD were more likely to be diagnosed with ASD (odds ratio [OR], 30.38; 95% CI, 17.73-52.06) or ADHD in the absence of ASD (OR, 3.70; 95% CI, 1.67-8.21). Compared with later-born siblings of children without a diagnosis, later-born siblings of children with ADHD were more likely to be diagnosed with ADHD (OR, 13.05; 95% CI, 9.86-17.27) or ASD in the absence of ADHD (OR, 4.35; 95% CI, 2.43-7.79). Conclusions and Relevance: Later-born siblings of children with ASD or ADHD appear to be at elevated risk for the same disorder, but also of being diagnosed with the other disorder. These findings provide further support for shared familial mechanisms underlying ASD and ADHD, which may be useful for genetic and prospective developmental studies. Later-born siblings of children with ADHD or ASD should be monitored for both conditions.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Transtorno do Espectro Autista/etiologia , Irmãos , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Feminino , Interação Gene-Ambiente , Predisposição Genética para Doença , Humanos , Masculino , Razão de Chances , Oregon/epidemiologia , Recidiva , Fatores de Risco , Washington/epidemiologia
14.
Public Health Nutr ; 22(5): 874-881, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30394250

RESUMO

OBJECTIVE: The present study aimed to determine the relationship among food insecurity, social support and mental well-being in sub-Saharan Africa, a region presenting the highest prevalence of severe food insecurity and a critical scarcity of mental health care. DESIGN: Food insecurity was measured using the Food Insecurity Experience Scale (FIES). Social support was assessed using dichotomous indicators of perceived, foreign perceived, received, given, integrative and emotional support. The Negative and Positive Experience Indices (NEI and PEI) were used as indicators of mental well-being. Multilevel mixed-effect linear models were applied to examine the associations between mental well-being and food security status, social support and their interaction, respectively, accounting for random effects at country level and covariates.ParticipantsNationally representative adults surveyed through Gallup World Poll between 2014 and 2016 in thirty-nine sub-Saharan African countries (n 102 235). RESULTS: The prevalence of severe food insecurity was 39 %. The prevalence of social support ranged from 30 to 72 % by type. In the pooled analysis using the adjusted model, food insecurity was dose-responsively associated with increased NEI and decreased PEI. Perceived, integrative and emotional support were associated with lower NEI and higher PEI. The differences in NEI and PEI between people with and without social support were the greatest among the most severely food insecure. CONCLUSIONS: Both food insecurity and lack of social support constitute sources of vulnerability to poor mental well-being. Social support appears to modify the relationship between food security and mental well-being among those most affected by food insecurity in sub-Saharan Africa.

15.
Autism ; 23(4): 821-833, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-29950114

RESUMO

Mother-infant interactions are a proximal process in early development and may be especially salient for children who are at risk for social difficulties (i.e. infant siblings of children with autism spectrum disorder). To inform how indices of maternal behaviors may improve parent-mediated interventions designed to mitigate autism spectrum disorder risk, the present study explored maternal social responsiveness ratings and social behaviors during dyadic play interactions. Dyads were recruited from families with at least one older child with autism spectrum disorder (high-risk group, n = 90) or families with no history of autism spectrum disorder (low-risk group, n = 62). As part of a prospective study, interactions were coded when infant siblings were 6, 9, and 12 months of age, for gaze, affect, vocalizations, and multimodal bids or responses (i.e. social smiles). Maternal social responsiveness was indexed via the Social Responsiveness Scale. Mothers in both risk groups had comparable Social Responsiveness Scale scores and social behaviors during play. Two maternal behaviors emerged as positive correlates of infant social behaviors and are thus of high relevance to parent-mediated interventions. Specifically, more maternal positive affect and the use of multimodal bids or responses were associated with more infant positive affect, vocalizations, gaze to face, and multimodal bids or responses.

16.
J Pediatr Hematol Oncol ; 40(7): 495-498, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30044354

RESUMO

BACKGROUND: Children with sickle cell disease (SCD) demonstrate deficits in cognitive and academic functioning. This study compared the visual motor integration (VMI) skills of children with SCD to non-SCD sibling controls. PROCEDURE: In total, 105 participants (67 patients with SCD, 38 controls) were recruited during a routine clinic visit. Each participant was administered the Grooved Pegboard Test, a test of manual dexterity and the Beery-Buktenica Developmental Test of VMI, a measure of graphomotor skills. RESULTS: Children with SCD demonstrated average (M=89.61, SE=3.08) fine manual dexterity and speed, but more complex fine motor functioning (graphomotor skills) (M=77.61, SE=1.65) was impaired. Relative to healthy siblings, children with SCD were not found to have different fine manual dexterity and speed (P=0.617). Patients with SCD were found to have significantly worse graphomotor skills (P=0.04). CONCLUSIONS: Children with SCD were found to have average basic fine motor dexterity and speed, but impaired VMI, a more complex fine motor skill. This finding is significant given the functional importance of complex fine motor skills in early academic activities.


Assuntos
Anemia Falciforme/psicologia , Transtornos das Habilidades Motoras , Desempenho Psicomotor , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Transtornos Cognitivos , Feminino , Humanos , Masculino , Irmãos
17.
Autism Res ; 11(5): 788-797, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29524310

RESUMO

While previous studies suggested that regressive forms of onset were not common in autism spectrum disorder (ASD), more recent investigations suggest that the rates are quite high and may be under-reported using certain methods. The current study undertook a systematic investigation of how rates of regression differed by measurement method. Infants with (n = 147) and without a family history of ASD (n = 83) were seen prospectively for up to 7 visits in the first three years of life. Reports of symptom onset were collected using four measures that systematically varied the informant (examiner vs. parent), the decision type (categorical [regression absent or present] vs. dimensional [frequency of social behaviors]), and the timing of the assessment (retrospective vs. prospective). Latent class growth models were used to classify individual trajectories to see whether regressive onset patterns were infrequent or widespread within the ASD group. A majority of the sample was classified as having a regressive onset using either examiner (88%) or parent (69%) prospective dimensional ratings. Rates of regression were much lower using retrospective or categorical measures (from 29 to 47%). Agreement among different measurement methods was low. Declining trajectories of development, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The accuracy of widely used methods of measuring onset is questionable and the present findings argue against their widespread use. Autism Res 2018, 11: 788-797. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study examines different ways of measuring the onset of symptoms in autism spectrum disorder (ASD). The present findings suggest that declining developmental skills, consistent with a regressive onset pattern, are common in children with ASD and may be more the rule than the exception. The results question the accuracy of widely used methods of measuring symptom onset and argue against their widespread use.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Comunicação , Feminino , Humanos , Lactente , Masculino , Pais , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Irmãos/psicologia , Comportamento Social , Inquéritos e Questionários
18.
J Abnorm Child Psychol ; 46(8): 1705-1716, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29450820

RESUMO

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are commonly comorbid, share genetic liability, and often exhibit overlapping cognitive impairments. Clarification of shared and distinct cognitive effects while considering comorbid symptoms across disorders has been lacking. In the current study, children ages 7-15 years assigned to three diagnostic groups:ADHD (n = 509), ASD (n = 97), and controls (n = 301) completed measures spanning the cognitive domains of attention/arousal, working memory, set-shifting, inhibition, and response variability. Specific processes contributing to response variability were examined using a drift diffusion model, which separately quantified drift rate (i.e., efficiency of information processing), boundary separation (i.e., speed-accuracy trade-offs), and non-decision time. Children with ADHD and ASD were impaired on attention/arousal, processing speed, working memory, and response inhibition, but did not differ from controls on measures of delayed reward discounting, set-shifting, or interference control. Overall, impairments in the ASD group were not attributable to ADHD symptoms using either continuous symptom measures or latent categorical grouping approaches. Similarly, impairments in the ADHD group were not attributable to ASD symptoms. When specific RT parameters were considered, children with ADHD and ASD shared impairments in drift rate. However, children with ASD were uniquely characterized by a wider boundary separation. Findings suggest a combination of overlapping and unique patterns of cognitive impairment for children with ASD as compared to those with ADHD, particularly when the processes underlying reaction time measures are considered separately.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Disfunção Cognitiva/fisiopatologia , Função Executiva/fisiologia , Tempo de Reação/fisiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Criança , Disfunção Cognitiva/etiologia , Feminino , Humanos , Masculino
19.
J Athl Train ; 53(1): 35-42, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29314871

RESUMO

CONTEXT: The fourth edition of the Preparticipation Physical Evaluation recommends functional testing for the musculoskeletal portion of the examination; however, normative data across sex and grade level are limited. Establishing normative data can provide clinicians reference points with which to compare their patients, potentially aiding in the development of future injury-risk assessments and injury-mitigation programs. OBJECTIVE: To establish normative functional performance and limb-symmetry data for high school-aged male and female athletes in the United States. DESIGN: Cross-sectional study. SETTING: Athletic training facilities and gymnasiums across the United States. PATIENTS OR OTHER PARTICIPANTS: A total of 3951 male and female athletes who participated on high school-sponsored basketball, football, lacrosse, or soccer teams enrolled in this nationwide study. MAIN OUTCOME MEASURE(S): Functional performance testing consisted of 3 evaluations. Ankle-joint range of motion, balance, and lower extremity muscular power and landing control were assessed via the weight-bearing ankle-dorsiflexion-lunge, single-legged anterior-reach, and anterior single-legged hop-for-distance (SLHOP) tests, respectively. We used 2-way analyses of variance and χ2 analyses to examine the effects of sex and grade level on ankle-dorsiflexion-lunge, single-legged anterior-reach, and SLHOP test performance and symmetry. RESULTS: The SLHOP performance differed between sexes (males = 187.8% ± 33.1% of limb length, females = 157.5% ± 27.8% of limb length; t = 30.3, P < .001). A Cohen d value of 0.97 indicated a large effect of sex on SLHOP performance. We observed differences for SLHOP and ankle-dorsiflexion-lunge performance among grade levels, but these differences were not clinically meaningful. CONCLUSIONS: We demonstrated differences in normative data for lower extremity functional performance during preparticipation physical evaluations across sex and grade levels. The results of this study will allow clinicians to compare sex- and grade-specific functional performances and implement approaches for preventing musculoskeletal injuries in high school-aged athletes.


Assuntos
Atletas , Traumatismos em Atletas/fisiopatologia , Desempenho Atlético/fisiologia , Condicionamento Físico Humano/métodos , Medição de Risco , Instituições Acadêmicas , Adolescente , Traumatismos em Atletas/epidemiologia , Traumatismos em Atletas/prevenção & controle , Estudos Transversais , Feminino , Humanos , Incidência , Masculino , Fenômenos Fisiológicos Musculoesqueléticos , Fatores Sexuais , Estados Unidos/epidemiologia , Adulto Jovem
20.
J Clin Child Adolesc Psychol ; 47(5): 737-744, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27732091

RESUMO

Converging evidence suggests shared genetic underpinnings of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Studies of infants at risk for ASD have proliferated over the past decade; the few studies that have followed these infants beyond age 3 report a range of difficulties facing a subset of these infants as they reach school age, including elevated levels of attention problems and externalizing behavior. Given this, we aimed to identify early predictors of school-age ADHD outcomes in a sample of infant siblings at risk for ASD. This study reports on a sample of 59 infants at high and low risk for ASD who had been followed for more than a decade, collecting data at regular intervals from 3 to 36 months and then determining diagnostic outcome at 8-10 years of age. Seventeen participants were diagnosed with Diagnostic and Statistical Manual of Mental Disorders (5th ed.) ADHD at school age (n = 14 high risk, 3 low risk). As infants, the ADHD outcome group demonstrated atypical longitudinal patterns of sustained visual attention. A significantly larger proportion of their parents reported behavior/temperament problems at 36 months of age, and examiners noted the presence of inattentive, hyperactive, and/or impulsive behaviors in this group by 18 months of age. These data suggest that behavioral indicators of risk for later ADHD may be present early in development, which may improve earlier detection and treatment of the disorder.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Irmãos/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno Autístico/epidemiologia , Criança , Pré-Escolar , Manual Diagnóstico e Estatístico de Transtornos Mentais , Diagnóstico Precoce , Feminino , Seguimentos , Humanos , Comportamento Impulsivo/fisiologia , Lactente , Masculino , Pais/psicologia , Resolução de Problemas/fisiologia , Estudos Prospectivos , Inquéritos e Questionários
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