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1.
J Clin Psychol Med Settings ; 30(2): 403-414, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-35976580

RESUMEN

Preschoolers commonly experience symptoms of ADHD and disruptive behavior problems. Behavioral parent management training (PMT) is an evidence-based intervention for addressing both ADHD and disruptive behaviors in this population; however, many PMT programs are burdensome in length and have limited data regarding long-term effectiveness for ADHD specific outcomes. This study examined outcomes up to 1 year following completion of a brief behavioral intervention (M = 6.51 sessions) for preschoolers. Participants were children aged 2-6 years with clinically significant disruptive behaviors and their parents. Results demonstrated significant improvements in parent-reported child hyperactivity and inattention from pre-to-post intervention, with sustained improvement at 6 months and 1 year post intervention. Teacher-reported hyperactivity and inattention also showed significant improvements from pre-to-post intervention, which were maintained across time points. These results were also found among a subset of participants with clinically significant ADHD symptoms at baseline. This study highlights the long-term effectiveness of a brief PMT program to address symptoms of ADHD and disruptive behaviors in preschoolers. Findings support the recommendation to offer PMT as a first-line intervention for preschoolers with ADHD symptoms to reduce the need for early intervention with stimulant medication and address comorbid disruptive behaviors.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Problema de Conducta , Niño , Humanos , Trastorno por Déficit de Atención con Hiperactividad/terapia , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Padres , Terapia Conductista , Comorbilidad
2.
Am J Med Genet A ; 188(6): 1915-1927, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35266292

RESUMEN

RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.


Asunto(s)
Síndrome de Costello , Síndrome de Noonan , Síndrome de Costello/genética , Humanos , Proteínas Quinasas Activadas por Mitógenos/metabolismo , Síndrome de Noonan/genética , Transducción de Señal , Proteínas ras/genética , Proteínas ras/metabolismo
3.
Am J Med Genet A ; 185(12): 3576-3583, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32954672

RESUMEN

It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n = 5; WNT5A, n = 3), four had autosomal-recessive RS (NXN, n = 2; ROR2, n = 2), and one had a mutation on an RS candidate gene (GPC4). Participants completed measures of intellectual, fine-motor, adaptive, executive, and psychological functioning. Findings indicated generally average intellectual functioning and low-average visuomotor skills. Adaptive functioning was average in autosomal-recessive RS (RRS) but low average in autosomal-dominant RS (DRS). Parent-report indicated executive dysfunction and attention problems in 4/8 children, 3/4 of whom had a DVL1 variant; adult self-report did not indicate similar difficulties. Learning disabilities were also reported in 4/8 individuals with DRS, 3/4 of whom had a DVL1 variant. Peer problems were reported for a majority of participants, many of whom also reported emotional concerns. Altogether, the findings indicate average neurocognitive functioning in RRS. In contrast, DRS, especially DVL1 pathogenic alleles, may confer specific risk for neurodevelopmental disability.


Asunto(s)
Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Proteínas Dishevelled/genética , Enanismo/genética , Deformidades Congénitas de las Extremidades/genética , Trastornos Neurocognitivos/genética , Anomalías Urogenitales/genética , Proteína Wnt-5a/genética , Adolescente , Adulto , Alelos , Niño , Preescolar , Anomalías Craneofaciales/epidemiología , Anomalías Craneofaciales/fisiopatología , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/fisiopatología , Enanismo/epidemiología , Enanismo/fisiopatología , Predisposición Genética a la Enfermedad , Humanos , Discapacidades para el Aprendizaje/genética , Discapacidades para el Aprendizaje/fisiopatología , Deformidades Congénitas de las Extremidades/epidemiología , Deformidades Congénitas de las Extremidades/fisiopatología , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/epidemiología , Trastornos Neurocognitivos/fisiopatología , Fenotipo , Funcionamiento Psicosocial , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/fisiopatología , Adulto Joven
4.
J Clin Psychol Med Settings ; 26(4): 507-515, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-30470962

RESUMEN

Most children with hypothalamic hamartoma (HH) manifest symptoms of epilepsy and associated cognitive deficits and behavioral difficulties as well as central precocious puberty (CPP). However, there is little to no research examining behavioral difficulties in children with HH without epilepsy, nor is there research examining treatments to address the behavioral difficulties of patients with HH without epilepsy. In the current case report, the authors implemented a validated parent management training program [the Brief Behavioral Intervention (BBI)], to treat symptoms of ADHD and disruptive behavior in a 6-year-old female patient with HH and CPP. The family participated in six BBI sessions over a period of 8 weeks. Parent behavioral ratings suggested significant reductions of symptoms of ADHD and disruptive behaviors to the normal range. The current case report demonstrates the effectiveness of the BBI program in the treatment of behavioral difficulties in a patient with HH and CPP. Further, the present study explores behavioral manifestations rarely explored in patients with HH without epilepsy.


Asunto(s)
Déficit de la Atención y Trastornos de Conducta Disruptiva/complicaciones , Déficit de la Atención y Trastornos de Conducta Disruptiva/terapia , Terapia Conductista/métodos , Conducta Infantil/psicología , Hamartoma/complicaciones , Enfermedades Hipotalámicas/complicaciones , Psicoterapia Breve/métodos , Déficit de la Atención y Trastornos de Conducta Disruptiva/psicología , Niño , Femenino , Hamartoma/psicología , Humanos , Enfermedades Hipotalámicas/psicología
5.
Am J Med Genet A ; 173(5): 1294-1300, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28374929

RESUMEN

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.


Asunto(s)
Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/fisiopatología , Síndrome de Costello/epidemiología , Síndrome de Costello/fisiopatología , Adolescente , Factores de Edad , Trastorno del Espectro Autista/genética , Niño , Preescolar , Síndrome de Costello/genética , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Conducta Social , Encuestas y Cuestionarios
6.
J Clin Psychol Med Settings ; 23(3): 240-6, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27448152

RESUMEN

This study examines the impact of maternal depression on reductions in children's behavior problems severity following implementation of the Brief Behavioral Intervention-a brief, manualized parent management training treatment. The parents of 87 children aged 2-6 years of age received parent management training at a metropolitan hospital. Parents of participants completed measures of externalizing behavior and maternal depression. The association between pre-post treatment change in externalizing behavior and maternal depression was examined using an autoregressive cross-lagged model. Results showed that self-reported maternal depressive symptoms at pre-treatment negatively influenced the overall magnitude of reduction of reported externalizing behaviors in children following treatment. Results indicate that aspects of family functioning not specifically targeted by parent management training, such as maternal depression, significantly affect treatment outcomes. Clinicians providing parent management training may benefit from assessing for maternal depression and modifying treatment as indicated.


Asunto(s)
Trastornos de la Conducta Infantil , Depresión , Trastorno Depresivo , Madres/psicología , Adulto , Niño , Familia , Femenino , Humanos , Masculino , Relaciones Madre-Hijo , Padres
7.
Am J Med Genet A ; 167(7): 1632-6, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25899150

RESUMEN

DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome.


Asunto(s)
Anomalías Múltiples/patología , Ectromelia/patología , Encefalocele/patología , Trastornos Neurocognitivos/patología , Fenotipo , Trombocitopenia/patología , Anomalías Urogenitales/patología , Anomalías Múltiples/genética , Adolescente , Encéfalo/diagnóstico por imagen , Ectromelia/genética , Encefalocele/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Desempeño Psicomotor/fisiología , Trombocitopenia/genética , Tomografía Computarizada por Rayos X , Anomalías Urogenitales/genética , Percepción Visual/fisiología
8.
Curr Diab Rep ; 14(10): 533, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25142718

RESUMEN

The impact of diabetes on the developing brain is well-accepted. Effects on neurocognitive functioning are moderate but have larger functional implications, especially when considered through a developmental lens. Pathophysiological factors such as severe hypoglycemia and chronic hyperglycemia can alter developmental trajectories in early childhood and perhaps at later periods. In this paper, we selectively review neurocognitive outcomes in pediatric diabetes (largely type 1), integrating recent research from developmental neuroscience and neuroimaging. We examine the effects of diabetes at different stages and place findings within a neurodevelopmental diathesis/stress framework. Early-onset diabetes is associated with specific effects on memory and more global cognitive late-effects, but less is known about cognitive outcomes of diabetes in later childhood and in adolescence, a time of increased neurobehavioral vulnerability that has received relatively limited empirical attention. Studies are also needed to better elucidate risk and protective factors that may moderate neurodevelopmental outcomes in youth with diabetes.


Asunto(s)
Desarrollo Infantil , Diabetes Mellitus Tipo 1/fisiopatología , Diabetes Mellitus Tipo 1/psicología , Neuroimagen/métodos , Estrés Psicológico/etiología , Adolescente , Edad de Inicio , Niño , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/complicaciones , Evaluación Educacional , Humanos , Hiperglucemia/fisiopatología , Hiperglucemia/psicología , Hipoglucemia/fisiopatología , Hipoglucemia/psicología , Factores de Riesgo , Estrés Psicológico/fisiopatología , Estrés Psicológico/psicología , Adulto Joven
9.
Pediatr Diabetes ; 15(3): 190-7, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24118977

RESUMEN

OBJECTIVE: The aim of this study was to develop and validate a psychosocial screening tool to predict risk for poor glycemic control in children with type 1 diabetes. METHODS: Participants seen for psychological screening were 196 children aged 3-18 yr at diabetes diagnosis. A psychosocial risk index was developed to predict poor glycemic control [mean hemoglobin A1c (HbA1c) ≥ 9.5%; 80 mmol/mol] 1-4 yr post diagnosis. Cutoff scores were derived for multiple levels of risk from receiver operating characteristic (ROC) curves and likelihood ratios (LRs). Discrimination and calibration were examined in the sample, and validated in 1000 bootstrap samples. Ability to predict diabetes-related emergency-room (ER) visits and diabetic ketoacidosis (DKA) was also tested. RESULTS: The risk index accounted for 16.2% of variance in mean HbA1c, discriminated between children with and without poor glycemic control [area under the receiver operating characteristic curve (AUC) = 0.814, 0.713-0.915; p < 0.001], ER visits (AUC = 0.655, 0.561-0.748; p = 0.001), and DKA(AUC = 0.709, 0.588-0.830; p = 0.001), and was well-calibrated. Every one-point increase in score was associated with an absolute increase in risk for poor glycemic control of approximately 10% (LRs = 1.7, 3.2, 5.8, and 9.3). Sensitivity and specificity were 0.68 (0.43-0.86) and 0.79 (0.72-0.84) for detecting patients at moderate risk, and 0.53 (0.29-0.75) and 0.91 (0.85-0.95) for detecting high-risk patients. The index performed equally well in validation samples. CONCLUSIONS: This paper presents the first psychosocial risk index for poor glycemic control in children newly diagnosed with type 1 diabetes. It is brief, easily administered, and provides a single score that translates directly into an estimate of risk that can help guide routine diabetes care.


Asunto(s)
Diabetes Mellitus Tipo 1/terapia , Cetoacidosis Diabética/prevención & control , Hiperglucemia/prevención & control , Modelos Psicológicos , Cooperación del Paciente , Adolescente , Niño , Preescolar , Estudios de Cohortes , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/psicología , Cetoacidosis Diabética/epidemiología , Cetoacidosis Diabética/terapia , Servicio de Urgencia en Hospital , Femenino , Hemoglobina Glucada/análisis , Hospitales Pediátricos , Humanos , Hiperglucemia/epidemiología , Estudios Longitudinales , Masculino , Servicio Ambulatorio en Hospital , Curva ROC , Estudios Retrospectivos , Medición de Riesgo/métodos , Factores de Riesgo , Texas/epidemiología
10.
Am J Med Genet A ; 161A(9): 2258-65, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23918324

RESUMEN

Costello syndrome (CS) is a rare genetic disorder caused by germline mutations in the HRAS proto-oncogene which belongs to the family of syndromes called rasopathies. HRAS plays a key role in synaptic long-term potentiation (LTP) and memory formation. Prior research has found impaired recall memory in CS despite enhancement in LTP that would predict memory preservation. Based on findings in other rasopathies, we hypothesized that the memory deficit in CS would be specific to recall, and that recognition memory would show relative preservation. Memory was tested using word-list learning and story memory tasks with both recall and recognition trials, a design that allowed us to examine these processes separately. Participants were 11 adolescents and young adults with molecularly confirmed CS, all of whom fell in the mild to moderate range of intellectual disability. Results indicated a clear dissociation between verbal recall, which was impaired (M = 69 ± 14), and recognition memory, which was relatively intact (M = 86 ± 14). Story recognition was highly correlated with listening comprehension (r = 0.986), which also fell in the low-average range (M = 80 ± 12.9). Performance on other measures of linguistic ability and academic skills was impaired. The findings suggest relatively preserved recognition memory that also provides some support for verbal comprehension. This is the first report of relatively normal performance in a cognitive domain in CS. Further research is needed to better understand the mechanisms by which altered RAS-MAPK signaling affects neuronal plasticity and memory processes in the brain.


Asunto(s)
Síndrome de Costello/psicología , Memoria , Aprendizaje Verbal , Adaptación Psicológica , Adolescente , Adulto , Femenino , Humanos , Pruebas del Lenguaje , Masculino , Proto-Oncogenes Mas , Reconocimiento en Psicología , Análisis y Desempeño de Tareas , Adulto Joven
11.
J Clin Psychol Med Settings ; 20(3): 323-32, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23575970

RESUMEN

Parent management training is an evidence-based treatment for disruptive behavior. However, the number of treatment sessions can be high, contributing to high attrition rates. The purpose of this study was to examine post-treatment, 6-month, and 1-year treatment outcomes of the Brief Behavioral Intervention. One hundred twenty children aged 2-6.5 years demonstrating clinically significant disruptive behavior were referred to an outpatient clinic for treatment and participated in the study. Attrition was below reported rates in the literature. Significant decreases in child disruptive behavior and parent stress were found from pre-to-post intervention, and improvements were maintained at follow-ups. Significant pre-to-post intervention teacher reported decreases in behavior were reported.


Asunto(s)
Terapia Conductista/métodos , Trastornos de la Conducta Infantil/terapia , Relaciones Padres-Hijo , Responsabilidad Parental/psicología , Adulto , Niño , Trastornos de la Conducta Infantil/psicología , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Padres/psicología , Evaluación de Programas y Proyectos de Salud/métodos , Evaluación de Programas y Proyectos de Salud/estadística & datos numéricos , Estrés Psicológico/psicología , Resultado del Tratamiento
12.
Bull Menninger Clin ; 87(2): 162-188, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37260329

RESUMEN

An estimated 1.8% of U.S. adolescents identify as transgender, and when using expansive language to include diverse identities along the gender continuum (e.g., nonbinary, gender fluid), rates may be notably higher. Gender-diverse youth (GDY) experience significantly elevated rates of depression, anxiety, suicidality, and eating disorders relative to the general population. Youth with autism spectrum disorders also appear to report diverse gender identities at higher rates than neurotypical youth. Gender-minoritized stress, including distal (e.g., transgender related stigma and discrimination) and proximal (e.g., social or familial rejection due to gender-diverse identity) stressors, increase risk for mental health disorders among GDY, and gender affirmation mitigates risk. Gender-affirming medical and behavioral health care is associated with enhanced resilience and positive mental health outcomes for GDY.


Asunto(s)
Identidad de Género , Personas Transgénero , Humanos , Adolescente , Salud Mental , Personas Transgénero/psicología , Ansiedad , Estigma Social
13.
Am J Med Genet C Semin Med Genet ; 157C(2): 115-22, 2011 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-21495179

RESUMEN

Costello syndrome is a rare rasopathy resulting from germline mutations of the proto-oncogene HRAS. Its phenotype includes severe failure-to-thrive, cardiac abnormalities, a predisposition to benign and malignant tumors, hypotonia, and developmental delay. Costello syndrome is associated with cognitive impairment, including intellectual functioning generally in the mild to moderate range of disability, commensurate adaptive functioning, and increased anxiety. Relative strengths have been found for nonverbal fluid reasoning (FR). Gender effects have been reported, with females showing better adaptive functioning across domains. Developmentally, nonverbal skills plateau in late childhood/early adolescence, whereas the rate of vocabulary acquisition may increase in adolescence into early adulthood. Here we review the literature assessing cognitive, adaptive, and behavioral functioning in Costello syndrome, and we provide data from an ongoing longitudinal study. Severity of cognitive impairment may depend upon the specific HRAS mutation, as three individuals with the p.G13C change showed average nonverbal FR skills and borderline-to-low average overall nonverbal IQ. Further, separation anxiety is more common in Costello syndrome than in the general population, affecting 39% of this cohort, and males are more often overly anxious than females. Interrelations between anxiety and cognitive and adaptive functioning were found, pointing to functional difficulties as a likely source of stress and anxiety. Taking into account data from animal models, cognitive and behavioral changes likely originate from abnormal differentiation of neuronal precursor cells, which result in structural and functional brain differences.


Asunto(s)
Adaptación Psicológica/fisiología , Trastornos de Ansiedad/fisiopatología , Síntomas Conductuales/fisiopatología , Trastornos del Conocimiento/fisiopatología , Síndrome de Costello/fisiopatología , Proteínas Proto-Oncogénicas p21(ras)/genética , Síndrome de Costello/genética , Femenino , Humanos , Masculino , Mutación/genética , Proto-Oncogenes Mas , Factores Sexuales
14.
Am J Med Genet A ; 155A(4): 706-16, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21438134

RESUMEN

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. Subjectively, their facial features were less coarse. Statistically significant differences included the absence of multifocal atrial tachycardia (P-value = 0.033), ulnar deviation of the wrist (P < 0.001) and papillomata (P = 0.003), and fewer neurosurgical procedures (P = 0.024). Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). The noteworthy absence of malignant tumors did not reach statistical significance. Novel ectodermal findings were noted in individuals with p.G13C, including loose anagen hair resulting in easily pluckable hair with a matted appearance, different from the tight curls typical for most Costello syndrome individuals. Unusually long eye lashes requiring trimming are a novel finding we termed dolichocilia. These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings.


Asunto(s)
Síndrome de Costello/genética , Mutación/genética , Fenotipo , Proteínas Proto-Oncogénicas p21(ras)/genética , Adolescente , Adulto , Encéfalo/anomalías , Niño , Preescolar , Síndrome de Costello/complicaciones , Síndrome de Costello/diagnóstico , Cara/anomalías , Femenino , Cardiopatías Congénitas/etiología , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Anomalías Musculoesqueléticas/etiología , Neoplasias/etiología , Embarazo , Proto-Oncogenes Mas , Adulto Joven
15.
J Clin Psychol Med Settings ; 18(4): 416-22, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21938395

RESUMEN

The primary aims of this exploratory study were to determine the rate of occurrence of acute stress disorder (ASD) in children newly diagnosed with Type 1 diabetes and their parents, to examine relationships with demographic and psychosocial factors, and to examine the relationships between ASD symptom clusters and early adherence behavior (clinic attendance). The sample consisted of 102 parents of children ages 0-17 years and 40 youth ages 11-17 who were evaluated within three days of diabetes diagnosis. Eighteen percent of parents and 17% of youth reported subthreshold symptoms of ASD. Acute stress symptoms and demographic variables predicted clinic attendance, with a differential pattern evident in the responses of youth and their parents. These findings reinforce the importance of screening symptoms of ASD in youth with newly diagnosed diabetes and their parents to assist in identifying families who may be in need of additional support.


Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/psicología , Padres/psicología , Trastornos de Estrés Traumático Agudo/epidemiología , Trastornos de Estrés Traumático Agudo/psicología , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Cooperación del Paciente/psicología , Cooperación del Paciente/estadística & datos numéricos , Proyectos Piloto , Prevalencia , Estudios Retrospectivos , Sudoeste de Estados Unidos/epidemiología
16.
J Health Care Poor Underserved ; 32(1): 435-448, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33678706

RESUMEN

While challenges related to health care utilization among transgender individuals have been discussed, studies examining health services under Medicaid are limited. A retrospective review was performed on all patients who presented with Gender Dysphoria from 2013-2018 to one Medicaid managed program. Utilization rates of distinct services and interventions were analyzed. A total of 192 patients, with 787 encounters, were identified. Mean patient age was 15 years old. Mean number of encounters per patient was 4.1. The average number of distinct specialties seen was 1.4. Behavioral health (BH) services were most commonly utilized (50%). Endocrinology and surgical services were encountered less frequently. Medications were prescribed for 25% of patients; hormonal treatment was prescribed for 6.7%. This study highlights the deficiencies in services this population is receiving under one managed Medicaid program. While behavioral health services are widely employed, underutilization of medical and surgical consultations compromises patient awareness of available interventions.


Asunto(s)
Medicaid , Personas Transgénero , Adolescente , Utilización de Instalaciones y Servicios , Humanos , Programas Controlados de Atención en Salud , Aceptación de la Atención de Salud , Estudios Retrospectivos , Estados Unidos
17.
Am J Med Genet A ; 152A(1): 84-90, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20034064

RESUMEN

Clinical and molecular analyses of Costello syndrome are proceeding at a rapid pace, including the delineation of the adult phenotype. We designed a two-part survey in order to describe the quality of life (QoL) of older individuals with Costello syndrome. The survey consisted of the Costello syndrome quality of life (CSQoL): Caregiver Questionnaire, to obtain objective information such as skills, activities, and medical issues from caregivers; and the CSQoL:Self-Questionnaire assessing subjective information including self-esteem, life satisfaction, and interpersonal relations from affected individuals. Thirteen of 18 (72%) individuals with Costello syndrome (age 16-34 years, mean 22 years) and caregiver pairs responded. The data were analyzed to study day-to-day life, and to determine potential impediments on QoL for older individuals with Costello syndrome. The CSQoL:Caregiver total scores were significantly lower than the CSQoL:Self total scores as demonstrated by the Wilcoxon Signed Ranks Test (P < 0.008). The CSQoL:Caregiver total scores appear negatively correlated with total number of medical issues (r = -0.549; P = 0.065). No association was found between the CSQoL:Self scores and total number of medical issues (r = -0.107; P = 0.769). Four impediments to QoL for individuals with Costello syndrome were identified: relationships outside of their immediate circle of family and friends, lack of independence, male gender, and the presence of major medical issues. This information may be useful to the families and health care professionals of adults with Costello syndrome. As a measurable characteristic, QoL may have utility as a metric in future therapeutic trials.


Asunto(s)
Síndrome de Costello/fisiopatología , Calidad de Vida , Adolescente , Adulto , Cuidadores , Humanos , Encuestas y Cuestionarios , Adulto Joven
18.
Am J Med Genet A ; 149A(12): 2666-72, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19919001

RESUMEN

Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 individuals with Costello syndrome, nine males and nine females, and longitudinal development for 11 who had previous testing. The overall IQ, ranging from severe mental retardation to the average range, with a mean in the mildly mentally retarded range, was again found to be stable, but an interesting pattern in the development of nonverbal FR was identified. Participants showed an improvement in nonverbal FR, followed by stable skills thereafter, suggesting a "late bloomer" effect in late childhood/early adolescence. Overall adaptive functioning fell into the range of Intellectual Disability for 70% of subjects, with Socialization as a relative strength and Daily Living Skills an area of relative difficulty. Interestingly, females were found to be higher functioning than males in all domains, including Communication, Daily Living Skills and Socialization. Caregivers reported significantly more behavioral concerns in males, including internalizing, externalizing, and other maladaptive behaviors. In contrast, no gender differences were found in cognitive or visuomotor functioning.


Asunto(s)
Adaptación Fisiológica , Conducta/fisiología , Cognición/fisiología , Síndrome de Costello/fisiopatología , Adolescente , Adulto , Envejecimiento/patología , Niño , Preescolar , Estudios de Cohortes , Síndrome de Costello/genética , Femenino , Humanos , Estudios Longitudinales , Masculino , Actividad Motora/fisiología , Mutación/genética , Caracteres Sexuales , Visión Ocular/fisiología , Adulto Joven
19.
J Clin Psychol Med Settings ; 16(3): 263-9, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19424780

RESUMEN

Parent reported behavioral difficulties in young children are relatively common. Without adequate intervention, some children will later present with more severe problem behaviors. Parent management training is one of the best methods of treatment for behavior problems; however, existing treatments can be lengthy and difficult to conduct outside of a research setting. The Brief Behavioral Intervention was designed as a briefer version of a manualized parent management training treatment package. Thirty-one parents of children aged 2-6.5 presenting with behavior problems were included in this initial study of treatment effectiveness. Based on parent and teacher report, treatment was effective in a mean of 7.2 sessions.


Asunto(s)
Déficit de la Atención y Trastornos de Conducta Disruptiva/terapia , Terapia Conductista/métodos , Responsabilidad Parental , Psicoterapia Breve/métodos , Niño , Preescolar , Femenino , Humanos , Masculino , Manuales como Asunto , Estados Unidos
20.
Am J Med Genet A ; 146A(6): 683-90, 2008 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-18247425

RESUMEN

Costello syndrome is a rare congenital disorder typically characterized by severe failure-to-thrive, cardiac abnormalities including tachyarrhythmia and hypertrophic cardiomyopathy, distinctive facial features, a predisposition to papillomata and malignant tumors, neurologic abnormalities, developmental delay, and mental retardation. Its underlying cause is de novo germline mutations in the oncogene HRAS. Almost all Costello syndrome mutations affect one of the glycine residues in position 12 or 13 of the protein product. More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change. We report on two patients with novel HRAS mutations affecting amino acids 58 (T58I) and 146 (A146V), respectively. Despite facial features that appear less coarse than those typically seen in Costello patients, both patients show many of the physical and developmental problems characteristic for Costello syndrome. These novel HRAS mutations may be less common than the frequently reported G12S change, or patients with these changes may be undiagnosed due to their less coarse facial features. In addition to the findings previously known to occur in Costello syndrome, one of our patients had hypertrophic pyloric stenosis. This led us to review the medical histories on a cohort of proven HRAS mutation positive Costello syndrome patients, and we found a statistically significantly (P < 0.001) increased frequency of pyloric stenosis in Costello syndrome (5/58) compared to the general population frequency of 2-3/1,000. Thus we add hypertrophic pyloric stenosis to the abnormalities seen with increased frequency in Costello syndrome.


Asunto(s)
Anomalías Múltiples/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Asimetría Facial/congénito , Mutación de Línea Germinal , Proteínas Proto-Oncogénicas p21(ras)/genética , Anomalías Múltiples/genética , Secuencia de Bases , Niño , Preescolar , Cognición/fisiología , Análisis Mutacional de ADN , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/genética , Asimetría Facial/complicaciones , Asimetría Facial/genética , Femenino , Humanos , Lactante , Masculino , Pruebas Psicológicas , Estenosis Pilórica/complicaciones , Estenosis Pilórica/diagnóstico , Síndrome
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