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INTRODUCTION: Sarcoidosis is a systemic inflammatory disease characterized by non-necrotizing granulomas in involved organs, most commonly the lung. Description of patient characteristics in the Western United States is limited. Furthermore, blood-based measures that relate to clinical sarcoidosis phenotypes are lacking. We present an analysis of a prospective, longitudinal sarcoidosis cohort at a Northern Californian academic medical center. METHODS: We enrolled 126 sarcoidosis subjects and 64 healthy controls and recorded baseline demographic and clinical characteristics. We used regression models to identify factors independently associated with pulmonary physiology. We tested whether blood transcript levels at study entry could relate to longitudinal changes in pulmonary physiology. RESULTS: White, non-Hispanics composed ~70% of subjects. Hispanics and Blacks had a diagnostic biopsy at an age ~7 years younger than whites. Obstructive, but not restrictive, physiology characterized Scadding Stage IV patients. Subjects reporting use of immunosuppression had worse FEV1%p, FVC%p, and DLCO%p compared to subjects never treated, regardless of Scadding stage. We defined sarcoidosis disease activity by a drop in pulmonary function over 36 months and found that subjects meeting this definition had significant repression of blood gene transcripts related to T cell receptor signaling pathways, referred to as the "TCR factor." CONCLUSION: Obstructive pulmonary physiology defined Stage IV patients which were mostly white, non-Hispanics. Genes comprising the composite gene expression score, TCR factor, may represent a blood-derived measure of T-cell activity and an indirect measure of active sarcoidosis inflammation. Validation of this measure could translate into individualized treatment for sarcoidosis patients.
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Sarcoidosis Pulmonar/fisiopatología , Adulto , Negro o Afroamericano , Factores de Edad , Anciano , Monóxido de Carbono , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Volumen Espiratorio Forzado , Hispánicos o Latinos , Humanos , Inmunosupresores/uso terapéutico , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Capacidad de Difusión Pulmonar , Receptores de Antígenos de Linfocitos T/genética , San Francisco/epidemiología , Sarcoidosis/tratamiento farmacológico , Sarcoidosis/etnología , Sarcoidosis/genética , Sarcoidosis/fisiopatología , Sarcoidosis Pulmonar/tratamiento farmacológico , Sarcoidosis Pulmonar/etnología , Sarcoidosis Pulmonar/genética , Índice de Severidad de la Enfermedad , Transducción de Señal/genética , Fumar/epidemiología , Transcriptoma , Capacidad Vital , Población Blanca , Adulto JovenRESUMEN
Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P < 0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P < 0.001) and SSRIs (40%; P < 0.001). For females, only stimulants (33%; P = 0.03) and SSRIs (44%; P = 0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS. © 2016 Wiley Periodicals, Inc.
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Manejo de la Enfermedad , Síndrome del Cromosoma X Frágil/genética , Asesoramiento Genético , Trastornos Mentales/genética , Femenino , Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/fisiopatología , Síndrome del Cromosoma X Frágil/terapia , Humanos , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/tratamiento farmacológico , Trastornos Mentales/fisiopatología , Mutación , Psicotrópicos , Calidad de VidaRESUMEN
The objectives of the study were to assess the attitudes and experiences of clinicians involved in a consortium of clinics serving people with fragile X-associated disorders to gauge satisfaction with the consortium and its efforts to improve quality of life for patients and the community. An internet survey was sent to 26 fragile X (FX) clinic directors participating in the Fragile X Clinical and Research Consortium (FXCRC). Respondents were asked to complete 19 questions on consortium performance and outcomes relevant for their own clinic. The response rate was 84% (22/26), with two surveys providing incomplete data. Assistance with clinic establishment, opportunities for research collaborations, and access to colleagues and information were highly valued. Approximately 76% of clinicians reported improvements in patient care and 60% reported an increase in patient services. There was a 57% increase in participation in a FX-related clinical trial among clinics since joining the FXCRC (24% vs. 81%). Overall, respondents reported primarily positive experiences from participation in the FXCRC. Common suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes. Additionally, a Clinic Services Checklist was administered annually to examine changes in services offered over time. There were several important changes regarding the provision of services by clinics, often with multiple clinics changing with respect to a service. In conclusion, the FXCRC has led to the establishment and sustainment of fragile X clinics in the U.S., fostered cooperation among fragile X clinicians, and provided clinics with a platform to share recommendations and best practices to maximize quality of life for their patients and the overall fragile X community. The results from the survey and checklist also provide suggestions to strengthen the FXCRC and enhance future collaborations among FXCRC members. © 2016 Wiley Periodicals, Inc.
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Síndrome del Cromosoma X Frágil/epidemiología , Conocimientos, Actitudes y Práctica en Salud , Síndrome del Cromosoma X Frágil/psicología , Humanos , Médicos/psicología , Calidad de Vida , Investigación , Encuestas y CuestionariosRESUMEN
This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural history study of FXS, were analyzed using descriptive statistics and multivariate linear and logistic regression models to examine SS and signs of HA, their impact on behavioral regulation and limitations on the subject/family. The sample (N = 933) consisted of 720 males and 213 females. More males were affected with SS (87% vs. 68%) and signs of HA (92% vs. 79%). Subjects who were endorsed as having a strong sensory response had more comorbidities, including behavioral problems. The predominant SS was difficulty with eye gaze that increased with age in both genders. As individuals age, there was less use of non-medication therapies, such as occupational therapy (OT)/physical therapy (PT), but there was more use of psychopharmacological medications and investigational drugs for behaviors. Multiple regression models suggested that endorsing SS and signs of HA was associated with statistically significantly increased ABC-C-I subscale scores and limited participation in everyday activities. This study improves our understanding of SS and signs of HA as well as their impact in FXS. It supports the need for more research regarding these clinical symptoms, especially to understand how they contribute to well-known behavioral concerns.
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Research has shown mixed results regarding the association between women's postpartum depression and mother-infant interactions, suggesting that a woman's unique experience and context may moderate how depression shapes these interactions. We examined the extent to which a woman's comorbid anxiety, her exposure to adversity, and infant characteristics moderate the relationship between depressive symptoms of women and interactions with their infants at 6 (n = 647) and 12 months (n = 346) postpartum. The methods included standardized coding of mother-infant interactions and structural regression modeling. The results at 6 months of infant age indicated that infant male sex and infant negative affectivity were risk factors for mothers' depression being associated with less optimal interactions. At 12 months of infant age, two moderators appeared to buffer the influence of depression: a woman's history of trauma and infant preterm birth (≤37 weeks gestation). The results reinforce the salience of infant characteristics in the relationship between maternal depression and mother-infant interactions. The findings also suggest that experiences of trauma may offer opportunities for psychological growth that foster constructive management of depression's potential effect on mother-infant interactions. Further research is needed to clarify the underlying processes and mechanisms that explain the influence of these moderators. The ultimate goals are to reduce the risk of suboptimal interactions and reinforce healthy dyadic relations.
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Ample research links mothers' postpartum depression (PPD) to adverse interactions with their infants. However, most studies relied on general population samples, whereas a substantial number of women are at elevated depression risk. The purpose of this study was to describe mothers' interactions with their 6- and 12-month-old infants among women at elevated risk, although with a range of symptom severity. We also identified higher-order factors that best characterized the interactions and tested longitudinal consistency of these factors from 6 to 12 months of infant age. We leveraged data from eight projects across the United States (n = 647), using standardized depression measures and an adaptation of the NICHD Mother-Infant Interaction Scales. Overall, these depression-vulnerable mothers showed high levels of sensitivity and positive regard and low levels of intrusiveness, detachment, and negative regard with their infants. Factor analyses of maternal behaviors identified two overarching factors-"positive engagement" and "negative intrusiveness" that were comparable at 6 and 12 months of infant age. Mothers' ability to regulate depressed mood was a key behavior that defined "positive engagement" in factor loadings. An exceptionally strong loading of intrusiveness on the second factor suggested its central importance for women at elevated depression risk. Mothers with severe depressive symptoms had significantly more "negative intrusiveness" and less "positive engagement" with their 6-month-old infants than women with moderate or fewer depressive symptoms, suggesting a potential tipping point at which symptoms may interfere with the quality of care. Results provide the foundation for further research into predictors and moderators of women's interactions with their infant among women at elevated risk for PPD. They also indicate a need for evidence-based interventions that can support more severely depressed women in providing optimal care.
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We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face validity items for FXS; use of receiver operating characteristic (ROC) curves to determine optimal cut points for the original and revised measures; an exploratory factor analysis to outline subscales better representing ASD in FXS; and creation of a "triple criteria" diagnosis to better delineate ASD subgroups in FXS. These methods improved the sensitivity and/or specificity of the SCQ and SRS-2, but diagnostic accuracy of ASD remains problematic in FXS.
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Trastorno del Espectro Autista/diagnóstico , Comunicación , Síndrome del Cromosoma X Frágil/diagnóstico , Relaciones Interpersonales , Encuestas y Cuestionarios , Adolescente , Adulto , Trastorno del Espectro Autista/psicología , Niño , Preescolar , Estudios Transversales , Femenino , Síndrome del Cromosoma X Frágil/psicología , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Psicometría/normas , Sistema de Registros , Trastorno de Comunicación Social/diagnóstico , Trastorno de Comunicación Social/psicología , Encuestas y Cuestionarios/normas , Adulto JovenRESUMEN
OBJECTIVE: To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors. METHODS: Using baseline data from the Fragile X Online Registry With Accessible Research Database (FORWARD), bivariate analyses and logistic regression models were used to identify differences between subjects who were and were not bowel and/or bladder trained by the age of 10 years. Cox proportional hazard models were used to assess the rate of completion of toilet training (TT) as a function of sex and autism spectrum disorder (ASD) diagnosis. RESULTS: In bivariate analyses, male sex, lower language level, inability to write one's name, more impaired intellectual level, ASD, and more severe behavioral deficits all predicted lack of bladder training (n = 313, p < 0.001) and bowel training (n = 300, p = 0.0004-0.0001) by the age of 10 years. In logistic regression models, lower level of language acquisition (p < 0.001) and higher Aberrant Behavior Checklist Irritability scores (p < 0.04) were associated with lower odds of bladder training by the age of 10 years. Lower level of language acquisition (p < 0.001) and ASD (p < 0.025) were associated with lower odds of bowel training by the age of 10 years. For both bladder and bowel training, Cox proportional hazard models indicated that delayed training was associated with male sex, lower levels of language acquisition, and ASD for both bladder training (n = 486; p < 0.001) and bowel training (n = 472; p < 0.001). CONCLUSION: These findings emphasize the importance of both slower language development and ASD diagnosis in predicting bowel and bladder training delays and can be used to develop and evaluate targeted approaches to TT based on sex, ASD diagnosis, and other clinical features identified in this study.
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Trastorno del Espectro Autista/epidemiología , Síntomas Conductuales/epidemiología , Síndrome del Cromosoma X Frágil/epidemiología , Trastornos del Desarrollo del Lenguaje/epidemiología , Sistema de Registros , Control de Esfínteres , Adolescente , Niño , Comorbilidad , Femenino , Humanos , Masculino , Factores SexualesRESUMEN
Importance: Pruritus, a hallmark of atopic dermatitis (AD), is thought to disrupt sleep, yet little is known about how variations in disease activity and severity of this common childhood condition may be associated with sleep patterns over time. Objective: To determine whether children with active AD have impaired sleep duration and quality at multiple time points throughout childhood and whether disease severity affects sleep outcomes. Design, Setting, and Participants: This longitudinal cohort study used data of children enrolled in the Avon Longitudinal Study of Parents and Children, a population-based birth cohort in Avon, United Kingdom. Participants were children (N = 13â¯988) alive at 1 year and followed up with repeated measures of self-reported AD and sleep through 16 years of age. This study was based on data collected from 1990 to 2008. Data analysis was performed from September 2017 to September 2018. Main Outcomes and Measures: Standardized measure of sleep duration and composite measure of sleep quality, including nighttime awakenings, early morning awakenings, difficulty falling asleep, and nightmares, were repeated at multiple time points between 2 and 16 years of age. Results: The study sample comprised 13â¯988 children (7220 male [51.6%]) followed up for a median (interquartile range [IQR]) duration of 11 (5-14) years. Of this total, 4938 children (35.3%) met the definition of having atopic dermatitis between 2 and 16 years of age. Total sleep duration was similar between children with active AD and without AD at all ages, and the average estimated difference across childhood was a clinically negligible difference of 2 minutes less per day for children with AD (95% CI, -4 to 0 minutes). In contrast, children with active AD were more likely to report worse sleep quality at all time points, with a nearly 50% higher odds of experiencing more sleep-quality disturbances (adjusted odds ratio [aOR], 1.48; 95% CI, 1.33 to 1.66). Children with more severe active disease (quite bad or very bad AD: aOR, 1.68; 95% CI, 1.42 to 1.98) and with comorbid asthma or allergic rhinitis (aOR, 1.79; 95% CI, 1.54 to 2.09) had worse sleep quality. However, even children with mild AD (OR, 1.40; 95% CI, 1.27 to 1.54) or inactive AD (OR, 1.41; 95% CI, 1.28 to 1.55) had statistically significantly increased odds of impaired sleep quality. Conclusions and Relevance: Atopic dermatitis appeared to be associated with impaired sleep quality throughout childhood; thus, it is suggested that clinicians should consider sleep quality among all children with AD, especially those with comorbid asthma or allergic rhinitis and severe disease, and that interventions to improve sleep quality are needed.
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Dermatitis Atópica/complicaciones , Trastornos del Sueño-Vigilia/etiología , Adolescente , Niño , Preescolar , Dermatitis Atópica/psicología , Humanos , Lactante , Estudios Longitudinales , Prurito/complicaciones , Prurito/psicología , Factores de Riesgo , Autoinforme , Índice de Severidad de la Enfermedad , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/epidemiologíaRESUMEN
Importance: The well-being and development of children is strongly influenced by parents' physical and psychosocial health. Data from small, clinic-based studies suggest that sleep loss may be common in parents of children with atopic dermatitis (AD), but longitudinal population-based studies are lacking. Objectives: To compare sleep disturbances over time between mothers of children with and without AD and to determine whether these disturbances are associated with the child's disease severity and the child's sleep disturbances. Design, Setting, and Participants: In the ongoing Avon Longitudinal Study of Parents and Children, all pregnant women residing in Avon, United Kingdom, with an expected delivery date between April 1, 1991, and December 31, 1992, were recruited. Analyses for this study, a secondary analysis of this cohort, were performed from September 2017 to September 2018. Mother-child pairs were followed up with a time-varying measure of child AD activity and severity and self-reported maternal sleep measures repeated at multiple time points between child ages 6 months and 11 years. Main Outcomes and Measures: Time-varying binary measures of maternal sleep duration (<6 vs ≥6 hours per night), difficulty falling asleep, early morning awakening, subjectively insufficient sleep, and daytime exhaustion. Results: The study followed up 13â¯988 mother-child pairs from birth for a median duration of 11 (interquartile range, 7-11) years. Among the cohort, 11 585 of 13 972 mothers (82.9%) were aged 21 to 34 years and 12 001 of 12 324 (97.4%) were of white race/ethnicity; 7220 of 13 978 children (51.7%) were male. Sleep duration (adjusted odds ratio [AOR], 1.09; 95% CI, 0.90-1.32) and early morning awakenings (AOR, 1.16; 95% CI, 0.93-1.46) were similar between mothers of children with and without AD. In contrast, mothers of children with AD were more likely to report difficulty falling asleep (AOR, 1.36; 95% CI, 1.01-1.83), subjectively insufficient sleep (AOR, 1.43; 95% CI, 1.24-1.66), and daytime exhaustion (AOR, 1.41; 95% CI, 1.12-1.78) independent of the child's comorbid asthma and/or allergic rhinitis. For all measures, worse child AD severity was associated with worse maternal sleep outcomes. The magnitude and significance of the associations were largely unchanged after adjustment for child sleep disturbances. Conclusions and Relevance: Mothers of children with AD reported difficulty falling asleep, subjectively insufficient sleep, and daytime exhaustion throughout the first 11 years of childhood. However, child sleep disturbances did not fully explain maternal sleep disturbances, and future research should investigate other mechanisms. In caring for children with AD, clinicians should consider maternal sleep disturbances and caregiver fatigue.
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Dermatitis Atópica/psicología , Madres/psicología , Trastornos del Sueño-Vigilia/epidemiología , Adulto , Niño , Preescolar , Estudios de Cohortes , Dermatitis Atópica/patología , Femenino , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Índice de Severidad de la Enfermedad , Reino Unido , Adulto JovenRESUMEN
INTRODUCTION: Sarcoidosis is a systemic inflammatory disease associated with myriad symptoms, including fatigue. It can affect physiological processes like sleep, leading to poor sleep quality and excessive daytime sleepiness. We hypothesized that sarcoidosis patients would report more severe sleep disturbance than healthy controls and that relationships would be found with sleep disturbance and the severity of other symptoms. METHODS: We enrolled 84 sarcoidosis patients and 30 healthy controls and recorded demographic and clinical characteristics. Self-report measures were used to assess sleep disturbance, psychosocial symptoms, and quality of life at enrollment and longitudinally. Relationships between different self-report outcomes were analyzed using correlation statistics. RESULTS: Using the General Sleep Disturbance Scale, 54% of sarcoidosis patients reported frequent and occasional sleep disturbance compared to only 17% of healthy controls (pâ¯<â¯0.0001). This significant increase in sleep disturbance found in sarcoidosis patients strongly correlated with multiple psychosocial symptoms, including fatigue, depression, and cognitive dysfunction, and negatively impacted quality of life (pâ¯<â¯0.01). Traditional measures of sarcoidosis disease severity or activity were not associated with sleep disturbance. Sleep disturbance scores remained stable at follow-up (mean time between first and last administration of questionnaire was 17.3 months) in 56 of the sarcoidosis patients. CONCLUSIONS: Sarcoidosis patients experienced significant sleep disturbance that correlated with higher levels of fatigue, depression, and cognitive dysfunction, and poorer quality of life. These associations were present regardless of disease severity or activity and result in decrements in quality of life and mental health.
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Disfunción Cognitiva/etiología , Depresión/etiología , Fatiga/etiología , Sarcoidosis/fisiopatología , Trastornos del Sueño-Vigilia/etiología , Adulto , Anciano , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/psicología , Costo de Enfermedad , Depresión/diagnóstico , Depresión/psicología , Fatiga/diagnóstico , Fatiga/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Sarcoidosis/complicaciones , Sarcoidosis/psicología , Autoinforme , Índice de Severidad de la Enfermedad , Sueño/fisiología , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/psicologíaRESUMEN
BACKGROUND AND OBJECTIVE: Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection. This report describes FORWARD and the way it can be used to improve health and quality of life of FXS patients and their relatives and caregivers. METHODS: FORWARD collects demographic information on individuals with FXS and their family members (affected and unaffected) through a 1-time registry form. The longitudinal database collects clinician- and parent-reported data on individuals diagnosed with FXS, focused on those who are 0 to 24 years of age, although individuals of any age can participate. RESULTS: The registry includes >2300 registrants (data collected September 7, 2009 to August 31, 2014). The longitudinal database includes data on 713 individuals diagnosed with FXS (data collected September 7, 2012 to August 31, 2014). Longitudinal data continue to be collected on enrolled patients along with baseline data on new patients. CONCLUSIONS: FORWARD represents the largest resource of clinical and demographic data for the FXS population in the United States. These data can be used to advance our understanding of FXS: the impact of cooccurring conditions, the impact on the day-to-day lives of individuals living with FXS and their families, and short-term and long-term outcomes.
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Bases de Datos como Asunto , Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/genética , Sistema de Registros , Actividades Cotidianas/psicología , Adolescente , Adulto , Cuidadores/psicología , Niño , Preescolar , Femenino , Síndrome del Cromosoma X Frágil/psicología , Síndrome del Cromosoma X Frágil/terapia , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Estados Unidos , Adulto JovenRESUMEN
The objectives were to describe the demographic characteristics of children with Fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or younger, and white, non-Hispanic. Using logistic regression models, awareness about FX Clinic services, guardian education, and income (CSN), and child age, family income, and total number of co-occurring conditions (OFXW) were predictors of clinic attendance. Demographic and child characteristics accounted for a large portion of the explained variance. Importantly, symptom severity and parent knowledge about services were independent predictors beyond the demographic characteristics of families.
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Síndrome del Cromosoma X Frágil/epidemiología , Síndrome del Cromosoma X Frágil/terapia , Servicio Ambulatorio en Hospital/estadística & datos numéricos , Aceptación de la Atención de Salud/estadística & datos numéricos , Sistema de Registros/estadística & datos numéricos , Grupos de Autoayuda/estadística & datos numéricos , Clase Social , Factores Socioeconómicos , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Estados Unidos/epidemiologíaRESUMEN
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using χ2 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status. RESULTS: Half of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of α-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD. CONCLUSIONS: These findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.
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Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/terapia , Adolescente , Agonistas alfa-Adrenérgicos/uso terapéutico , Adulto , Antipsicóticos/uso terapéutico , Análisis Aplicado de la Conducta , Trastorno del Espectro Autista/psicología , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/psicología , Trastornos de la Conducta Infantil/terapia , Preescolar , Terapia Combinada , Comorbilidad , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Síndrome del Cromosoma X Frágil/psicología , Humanos , Lactante , Estudios Longitudinales , Masculino , Sistema de RegistrosRESUMEN
Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families.
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Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/epidemiología , Trastornos Generalizados del Desarrollo Infantil/diagnóstico , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Trastornos Generalizados del Desarrollo Infantil/psicología , Síndrome del Cromosoma X Frágil/psicología , Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/epidemiología , Enfermedades Gastrointestinales/psicología , Cardiopatías/diagnóstico , Cardiopatías/epidemiología , Cardiopatías/psicología , Humanos , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/epidemiología , Malformaciones del Sistema Nervioso/psicología , Calidad de Vida/psicología , Convulsiones/diagnóstico , Convulsiones/epidemiología , Convulsiones/psicologíaRESUMEN
We examined daytime salivary cortisol and salivary alpha-amylase (sAA) secretion levels and variability in preschool-aged children with autism (AUT) and typically developing children (TYP). Fifty-two subjects (26 AUT and 26 TYP) were enrolled. Salivary samples were obtained at waking, midday, and bedtime on two consecutive days at three phases (baseline, 3 months later, 6 months later). There were modest increases in waking cortisol and sAA levels in AUT relative to TYP, but the increases were not statistically significant. Important differences were observed in cortisol and sAA variability between AUT and TYP. There was also a graded response among AUT by functional status--cortisol and sAA secretion levels were higher when IQ was lower.