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BACKGROUND: Granulomatosis with polyangiitis (Wegener's) causes progressive nasal collapse, nasal obstruction, and central face deformity. It is not known whether cartilaginous nasal reconstruction should be performed immediately or delayed (after disease 'burn-out'). OBJECTIVES: For Wegener's nasal collapse to: (1) Assess the functional and aesthetic outcomes following immediate versus delayed nasal reconstruction; (2) Measure the impact of psychosocial well-being (anxiety, depression, social isolation) in immediate versus delayed nasal reconstruction. METHODS: Wegener's patients were compared with either 1) immediate or 2) delayed nasal surgery (n = 61). Functional and aesthetic severity were compared with the validated Standard Cosmesis and Health Nasal Outcome Survey (SCHNOS) score (student's t-test). In addition, Patient-Reported Outcomes Measurement Information System (PROMIS) perioperative/1-year follow-up surveys were analyzed. RESULTS: At initial consultation, SCHNOS score severity types were similar for each group (Immediate vs Delayed): Mild (15% vs. 15%), Moderate (59% vs. 60%), and Severe (26% vs. 25%). Over a 30 ± 4 month wait, Delayed Surgery patients' conditions deteriorated with a shift from mild to more severe SCHNOS scores: Initial consultation vs. Prior to surgery (25 to 85). PROMIS scores at presentation were high compared to the general public; by the time of Delayed Surgery, patients significantly worsened: Anxiety (28 to 73), Depression (18 to 62), and Social Isolation (20 to 80). Although both immediate and delayed groups improved after surgery in functional and psychosocial scores, the immediate group was superior. CONCLUSIONS: Data showed superior functional/aesthetic scores, and superior psychosocial indicators with immediate cartilaginous nasal reconstruction compared to waiting until disease 'burn-out'.
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Facial feminization surgery (FFS) is a form of gender-affirming care for the transgender population that is currently a highly debated topic both inside and outside of the medical community. Currently, a paucity of information is available in plastic surgery literature on ethical issues surrounding FFS. In this paper, we discuss 5 major ethical considerations for plastic surgeons with regard to FFS: (1) how society's changing view of gender has impacted the importance of FFS; (2) whether FFS is medically necessary and should be covered by insurance; (3) to what extent resources should be invested in removing barriers to access FFS; (4) how patient selection criteria should address the irreversibility of the procedure and age of consent; and (5) how femininity and beauty standards contribute to each other and whether they can be disentangled. This paper aims to analyze the arguments made for and against each of these 5 nuanced issues and to expand these debates from the theoretical to the practical by suggesting approaches for reconciliation.
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Procedimientos de Cirugía Plástica , Cirugía Plástica , Personas Transgénero , Transexualidad , Masculino , Femenino , Humanos , Feminización/cirugía , Transexualidad/cirugíaRESUMEN
Mycosis fungoides (MF) is the most common form of cutaneous T-cell lymphoma (CTCL) and is characterized by epidermotrophism of malignant CD4+ T-lymphocytes. When MF advances to a recurrent stage, patients require treatment with systemic therapies such as vorinostat, a histone deacetylase inhibitor. While vorinostat has been shown to exhibit anti-tumor activity in MF, its exact molecular mechanism has yet to be fully discerned. In the present study, we examined the transcriptomic and proteomic profiles of vorinostat treatment in two MF cell lines, Myla 2059 and HH. We find that vorinostat downregulates CTLA-4, CXCR4, and CCR7 in both cell lines, but its effect on several key pathways differs between the two MF cell lines. For example, vorinostat upregulates CCL5, CCR5, and CXCL10 expression in Myla cells but downregulates CCL5 and CXCL10 expression in HH cells. Furthermore, vorinostat upregulates IFN-γ and IL-23 signaling and downregulates IL-6, IL-7, and IL-15 signaling in Myla cells but does not affect these pathways in HH cells. Although Myla and HH represent established MF cell lines, their distinct tumor origin from separate patients demonstrates that inherent phenotypic variations within the disease persist, underscoring the importance of using a variety of MF cells in the preclinical development of MF therapeutics.
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Linfoma Cutáneo de Células T , Micosis Fungoide , Neoplasias Cutáneas , Humanos , Vorinostat/farmacología , Proteómica , Micosis Fungoide/tratamiento farmacológico , Micosis Fungoide/patología , Linfoma Cutáneo de Células T/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patologíaRESUMEN
While attention dysregulation is a promising early indicator of neurodevelopmental risk, in particular attention-deficit/hyperactivity disorder (ADHD), it is difficult to characterize clinical concern due to its developmental expectability at the transition to toddlerhood. Thus, explicating the typical:atypical continuum of risk indicators is among the key future directions for research to promote early identification and intervention, and prevent decrements in the attainment of developmental milestones into early childhood. In this paper, we present the Multidimensional Assessment Profiles-Attention Regulation Infant-Toddler (MAPS-AR-IT) Scale, a novel parent-report survey of dimensional, developmentally specified indicators of attention (dys)regulation. Item Response Theory was employed to characterize the typical:atypical spectrum of both normative and more concerning dysregulation (including the contexts in which behavior occurs). We provide evidence of the validity of this measure in capturing the full typical:atypical spectrum via a longitudinal sample of typically developing children at 12-18 months of age (baseline) via concurrent scores on well-validated temperament and clinical measures. We also examine longitudinal stability and predictive validity if the MAPS-AR-IT via a clinical interview of ADHD symptoms at 24-30 months (follow-up). While not diagnostic, we present evidence of the utility of the MAPS-AR-IT in explicating individual neurodevelopmental risk and elucidating the broader typicality of behaviors related to attention (dys)regulation.
Aunque la desregulación de la atención es un prometedor indicador temprano del riesgo neural de desarrollo, en particular el trastorno de déficit en la atención/hiperactividad (ADHD), es difícil caracterizar las preocupaciones clínicas debido al factor de expectativa de desarrollo al momento de la transición a la temprana niñez. De manera que explicar la progresión típica:atípica de indicadores de riesgo está entre las futuras directrices claves para la investigación con el fin de promover la temprana identificación e intervención, y prevenir disminuciones en el alcance de hitos críticos hacia la temprana niñez. En este ensayo, presentamos la Escala de Perfiles de Evaluación Multidimensional - Regulación de la Atención del Infante-Niño Pequeñito (MAPS-AR-IT) una novedosa encuesta de reporte del progenitor, acerca de la (des)regulación de la atención, dimensional y específica para el desarrollo. Aportamos evidencia de la validez de esta medida para captar la completa gama típica:atípica por medio de una muestra longitudinal de niños típicamente en desarrollo, a los 12-18 meses de edad (edad base) por medio de puntajes concurrentes sobre el temperamento bien validado y las medidas clínicas, así como también la estabilidad longitudinal y la validez de predicción por medio de una entrevista clínica de síntomas de ADHD a los 24-30 meses (seguimiento). Se empleó la Teoría de Respuesta al Asunto para caracterizar la gama típica:atípica tanto de la desregulación normativa como de la más preocupante (incluyendo los contextos en los cuales ocurre el comportamiento). Aunque no se trata de diagnóstico, presentamos evidencia de la utilidad de MAPS-AR-IT para explicar el riesgo individual de desarrollo neural y elucidar el más amplio aspecto típico de comportamientos relacionados con la (des)regulación de la atención.
Bien que la dysrégulation de l'attention soit un indicateur précoce prometteur du risque neurodéveloppemental, en particulier le trouble déficitaire de l'attention/hyperactivité (TDHA) il est difficile de caractériser la préoccupation clinique du fait de sa prévisibilité développementale à la transition à la petite enfance. Par conséquent, expliquer le continuum typique:atypique des indicateurs de risque s'avère être une des directions futures de recherches clé pour promouvoir l'identification et l'intervention précoce, et prévenir les baisses dans la réalisation d'étapes développementales importantes jusque dans la petite enfance. Dans cet article nous présentons l'Echelle Multidimensional Assessment Profiles - Attention Regulation Infant-Toddler (MAPS-AR-IT) (échelle de profils d'évaluation multidimensionnelle - régulation de l'attention bébé-petit enfant, abrégée selon l'anglais MAP-AR-IT), une étude nouvelle basée sur les rapports faits par les parents de la (dys)régulation de l'attention dimensionnelle et spécifiée selon le développement. Nous démontrons la validité de cette mesure en capturant l'éventail total typique:atypique au moyen d'un échantillon longitudinal d'enfants se développement typiquement, à 12-18 mois (ligne de case) au moyen de scores concurrents de mesures cliniques et de tempérament bien validées, ainsi qu''une stabilité longitudinale et d'une validité prédictive au moyen d'un entretien Clinique des symptômes THHA à 24-30 mois (suivi). La Item Response Theory (IRT) a été employée pour caractériser l'éventail typique:atypique de la dysrégulation à la fois normative et celle plus inquiétante (y compris les contextes dans lesquels le comportement prend place). Bien que cela ne soit pas diagnostique, nous présentons la preuve de l'utilité de la MAPS-AR-IT en expliquant le risqué neurodéveloppemental individuel et en élucidant la typicalité plus large de comportements liés à la (dys)régulation de l'attention.
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Trastorno por Déficit de Atención con Hiperactividad , Humanos , Preescolar , Lactante , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Factores de Riesgo , TemperamentoRESUMEN
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair UBE3A expression, but they differ in how neighboring genes on chromosome 15 at 15q11-q13 are affected. There is evidence that different genetic subtypes present with different clinical severity, but a systematic quantitative investigation is lacking. Here we analyze natural history data on a large sample of individuals with AS (n = 250, 848 assessments), including clinical scales that quantify development of motor, cognitive, and language skills (Bayley Scales of Infant Development, Third Edition; Preschool Language Scale, Fourth Edition), adaptive behavior (Vineland Adaptive Behavioral Scales, Second Edition), and AS-specific symptoms (AS Clinical Severity Scale). We found that clinical severity, as captured by these scales, differs between genetic subtypes: individuals with UBE3A pathogenic variants and imprinting defects (IPD) are less affected than individuals with uniparental paternal disomy (UPD); of those with UBE3A pathogenic variants, individuals with truncating mutations are more impaired than those with missense mutations. Individuals with a deletion that encompasses UBE3A and other genes are most impaired, but in contrast to previous work, we found little evidence for an influence of deletion length (class I vs. II) on severity of manifestations. The results of this systematic analysis highlight the relevance of genomic regions beyond UBE3A as contributing factors in the AS phenotype, and provide important information for the development of new therapies for AS. More generally, this work exemplifies how increasing genetic irregularities are reflected in clinical severity.
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Síndrome de Angelman , Síndrome de Angelman/genética , Cromosomas Humanos Par 15 , Impresión Genómica/genética , Genotipo , Humanos , Fenotipo , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
BACKGROUND: Heightened motor activity is a hallmark of attention-deficit/hyperactivity disorder (ADHD), yet high activity levels are also often reported in young children with autism spectrum disorder (ASD). It is currently unclear whether increased motor activity represents a distinct versus shared early predictor of ASD and ADHD; no prior studies have directly examined this prospectively. We investigated differences in longitudinal patterns of objectively measured motor activity during early development. METHODS: Participants included 113 infants at high and low risk for ASD or ADHD. Continuous motion-based activity was recorded using tri-axial accelerometers at 12, 18, 24, and 36 months of age. At 36 months, participants were categorized into one of three outcome groups: ASD (n = 19), ADHD Concerns (n = 17), and Typically Developing (TD; n = 77). Group differences in trajectories of motor activity were examined in structured and semistructured contexts. Associations with behaviors relevant to ASD, ADHD, and general development were also examined. RESULTS: In both structured and semistructured contexts, both the ASD and ADHD Concerns groups exhibited heightened activity relative to the TD group by 18 months; the ASD group exhibited higher activity than the ADHD Concerns group at 24-36 months in the structured context only. Attention/behavior regulation, nonverbal, and verbal development-but not social engagement-were differentially associated with objectively measured activity by outcome group across contexts. CONCLUSIONS: Overactivity may be a shared, rather than distinct, precursor of atypical development in infants/toddlers developing ASD and concerns for ADHD, emerging as early as 18 months. Group differences in overactivity may be context-specific and associated with different underlying mechanisms.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Atención , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Preescolar , Humanos , Lactante , Actividad MotoraRESUMEN
Epidermal Growth Factor Receptor (EGFR) is amplified in over 50% of glioblastomas and promotes tumor formation and progression. However, attempts to treat glioblastoma with EGFR tyrosine kinase inhibitors have been unsuccessful thus far. The current standard of care is especially poor in patients with a constitutively active form of EGFR, EGFRvIII, which is associated with shorter survival time. This study examined the effect of GZ17-6.02, a novel anti-cancer agent undergoing phase 1 studies, on two EGFRvIII+ glioblastoma stem cells: D10-0171 and D317. In vitro analyses showed that GZ17-6.02 inhibited the growth of both D10-0171 and D317 cells with IC50 values of 24.84 and 28.28 µg/mL respectively. RNA sequencing and reverse phase protein array analyses revealed that GZ17-6.02 downregulates pathways primarily related to steroid synthesis and cell cycle progression. Interestingly, G17-6.02's mechanism of action involves the downregulation of the recently identified glioblastoma super-enhancer genes WSCD1, EVOL2, and KLHDC8A. Finally, a subcutaneous xenograft model showed that GZ17-6.02 inhibits glioblastoma growth in vivo. We conclude that GZ17-6.02 is a promising combination drug effective at inhibiting the growth of a subset of glioblastomas and our data warrants further preclinical studies utilizing xenograft models to identify patients that may respond to this drug.
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Antineoplásicos , Neoplasias Encefálicas , Glioblastoma , Antineoplásicos/farmacología , Antineoplásicos/uso terapéutico , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Línea Celular Tumoral , Receptores ErbB/metabolismo , Glioblastoma/tratamiento farmacológico , Glioblastoma/genética , Glioblastoma/metabolismo , HumanosRESUMEN
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.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/genética , Predisposición Genética a la Enfermedad , Humanos , Conducta Impulsiva , Lactante , Padres , TemperamentoRESUMEN
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference between the perceptions of clinicians and caregivers towards the syndrome. Finally, we outline the impact of AS on individuals, caregivers, and families.
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Síndrome de Angelman , Cuidadores , Humanos , Modelos Teóricos , Atención Dirigida al Paciente , Investigación CualitativaRESUMEN
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.
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Trastorno del Espectro Autista/diagnóstico , Escala de Evaluación de la Conducta/normas , Desarrollo Infantil , Conducta del Lactante , Pruebas Neuropsicológicas/normas , Conducta Social , Desarrollo Infantil/fisiología , Femenino , Humanos , Lactante , Conducta del Lactante/fisiología , Estudios Longitudinales , Masculino , Padres , Reproducibilidad de los Resultados , Riesgo , Sensibilidad y Especificidad , Hermanos , Grabación en VideoRESUMEN
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.
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Plasticidad Neuronal/fisiología , Síndrome de Rett/diagnóstico , Síndrome de Rett/terapia , Sinapsis/metabolismo , Humanos , Proteína 2 de Unión a Metil-CpG/genética , Síndrome de Rett/genética , Síndrome de Rett/metabolismo , Sinapsis/patología , Resultado del TratamientoRESUMEN
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are believed to share partially overlapping causal mechanisms suggesting that early risk markers may also overlap. Using latent profile analysis (LPA) in a sample of infants enriched for ASD and ADHD, we first examined the number of distinct groups of 3-year-old children, based on ADHD and ASD symptomatology. To investigate early predictors of ASD and ADHD symptom profiles, we next examined differences in trajectories of infant behaviors among the LPA classes spanning general development, negative affect, attention, activity level, impulsivity, and social behavior. Participants included 166 infants at familial risk for ASD (n = 89), ADHD (n = 38), or low-risk for both (n = 39) evaluated at 12, 18, 24, and 36 months of age. A three-class solution was selected reflecting a Typically Developing (TD) class (low symptoms; n = 108), an ADHD class (high ADHD/low ASD symptoms; n = 39), and an ASD class (high ASD/ADHD symptoms; n = 19). Trajectories of infant behaviors were generally suggestive of a gradient pattern of differences, with the greatest impairment within the ASD class followed by the ADHD class. These findings indicate a mixture of overlapping and distinct early markers of preschool ASD- and ADHD-like profiles that can be difficult to disentangle early in life.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Preescolar , Predisposición Genética a la Enfermedad , Humanos , Conducta Impulsiva , Lactante , FenotipoRESUMEN
By the time they are typically detected, neurodevelopmental disorders like autism spectrum disorder (ASD) are already challenging to treat. Preventive and early intervention strategies in infancy are critical for improving outcomes over the lifespan with significant cost savings. However, the impact of prevention and early intervention efforts is dependent upon our ability to identify infants most appropriate for such interventions. Because there may be significant overlap between prodromal symptoms across neurodevelopmental disorders and child psychopathology more broadly which may wax and wane across development, we contend that the impact of prevention and early intervention efforts will be heightened by identifying early indicators that may overlap across ASD and other commonly co-occurring disorders. This paper summarizes the existing literature on infant symptoms and identification of ASD to demonstrate the ways in which a transdiagnostic perspective could expand the impact of early identification and intervention research and clinical efforts, and to outline suggestions for future empirical research programs addressing current gaps in the identification-to-treatment pipeline. We propose four recommendations for future research that are both grounded in developmental and clinical science and that are scalable for early intervention systems: (1) development of fine-grained, norm-referenced measures of ASD-relevant transdiagnostic behavioral domains; (2) identification of shared and distinct mechanisms influencing the transition from risk to disorder; (3) determination of key cross-cutting treatment strategies (both novel and extracted from existing approaches) effective in targeting specific domains across disorders; and (4) integration of identified measures and treatments into existing service systems.
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Trastorno del Espectro Autista/psicología , Intervención Educativa Precoz/métodos , Trastornos del Neurodesarrollo/psicología , Trastorno del Espectro Autista/terapia , Niño , Humanos , Lactante , Trastornos del Neurodesarrollo/terapiaRESUMEN
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.
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Ansiedad/fisiopatología , Trastorno del Espectro Autista/fisiopatología , Depresión/fisiopatología , Predisposición Genética a la Enfermedad , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/genética , Preescolar , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Fenotipo , Riesgo , HermanosRESUMEN
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.
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Abastecimiento de Alimentos , Estado de Salud , Salud Mental , Apoyo Social , Adulto , África del Sur del Sahara , Depresión , Femenino , Humanos , Masculino , Encuestas y CuestionariosRESUMEN
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.
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Anemia de Células Falciformes/psicología , Trastornos de la Destreza Motora , Desempeño Psicomotor , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Trastornos del Conocimiento , Femenino , Humanos , Discapacidades para el Aprendizaje , Masculino , HermanosRESUMEN
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.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno Autístico/diagnóstico , Trastorno Autístico/psicología , Hermanos/psicología , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno Autístico/epidemiología , Niño , Preescolar , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Diagnóstico Precoz , Femenino , Estudios de Seguimiento , Humanos , Conducta Impulsiva/fisiología , Lactante , Masculino , Padres/psicología , Solución de Problemas/fisiología , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To examine longitudinal patterns of response to name from 6-24 months of age in infants at high and low risk for autism spectrum disorder (ASD). STUDY DESIGN: A response to name task was tested at 6, 9, 12, 15, 18, and 24 months of age in 156 infant siblings of children with ASD (high-risk) or typical development (low-risk). At 36 months of age, participants were classified into 1 of 3 outcome groups: group with ASD (n = 20), high-risk group without ASD (n = 76), or low-risk group without ASD (n = 60). Differences in longitudinal performance were assessed using generalized estimating equations, and sensitivity and specificity for identifying ASD were calculated. Differences in age 36-month functioning were examined between infants who developed ASD and repeatedly vs infrequently failed to respond to name. RESULTS: At 9 months of age, infants developing ASD were more likely to fail to orient to their names, persisting through 24 months. Sensitivity/specificity for identifying ASD based on at least 1 failure between 12 and 24 months were estimated at .70 in this sample. One-half of the infants who developed ASD had repeated failures in this timeframe, and demonstrated lower age 36-month receptive language, and earlier diagnosis of ASD than infants with ASD who had infrequent failures. CONCLUSIONS: In addition to recommended routine broad-based and ASD-specific screening, response to name should be regularly monitored in infants at risk for ASD. Infants who consistently fail to respond to their names in the second year of life may be at risk not only for ASD but also for greater impairment by age 3 years.
Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Diagnóstico Precoz , Nombres , Factores de Edad , Estudios de Cohortes , Femenino , Humanos , Lactante , Masculino , Tamizaje Masivo/métodos , Valor Predictivo de las Pruebas , Estudios Prospectivos , Psicometría , Medición de Riesgo , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , HermanosRESUMEN
Neuropsychological deficits, including difficulties with attention, are well described in children with sickle cell disease (SCD). Very little is known about attention deficit hyperactivity disorder (ADHD) in children with SCD. The objective of this study was to determine the proportion of ADHD in children with SCD referred for neuropsychological evaluation. This prospective, cross-sectional study included patients (age, 4 to 18 y) with SCD and completion of a neuropsychological evaluation between December 2013 and March 2016. Patients were referred for neuropsychological evaluation because of concern regarding school performance, development, and/or behavior. The diagnosis of ADHD was made by a neuropsychologist on the basis of the diagnostic criteria in the Diagnostic Statistical Manual-Fourth or Fifth Editions. ADHD medication usage rate was obtained by medical record review. Of the 89 patients with SCD referred for neuropsychological evaluation, 25% (95% confidence interval, 16%-35%) met diagnostic criteria for ADHD. Only 21% of the patients with SCD and ADHD were prescribed an ADHD medication. Our study supports routine ADHD screening in children with SCD who have poor school performance or behavioral concerns. Despite the benefits of pharmacologic treatment, the majority of patients with SCD and ADHD did not receive a medication for management of their ADHD.