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1.
Am J Med Genet A ; 179(9): 1725-1744, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31222966

RESUMO

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.

2.
Pediatr Endocrinol Rev ; 16(4): 452-456, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31245940

RESUMO

Is hormone treatment an invasive procedure? In this paper, we discuss aspects related to the choice of treating disorders of sex development (DSD) using hormones. Specifically, we focus on some of the challenging issues related to this treatment and the need to establish a standard of care for the use of hormone therapy in this patient population. The objectives of this paper are to: 1) Enhance understanding of the uncertainties in the decision-making process regarding hormonal interventions to treat patients with DSD. 2) Recognize that the effects of hormonal interventions might require a consent process similar to that applied for surgical procedures. 3) Emphasize the need to establish treatment algorithms that could form the basis of a standard of care for this patient population.


Assuntos
Encéfalo , Transtornos do Desenvolvimento Sexual , Hormônios , Humanos , Desenvolvimento Sexual
3.
Artigo em Inglês | MEDLINE | ID: mdl-30470962

RESUMO

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.

4.
Pediatr Endocrinol Rev ; 16(1): 186-193, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30371037

RESUMO

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing virilization of external genitalia when started prior to 7-9 weeks of gestation in females with classic CAH. However, CAH cannot be diagnosed prenatally until the end of the first trimester. Treating pregnant women with a fetus at risk of developing classic CAH exposes a significant proportion of fetuses unnecessarily, because only 1 in 8 would benefit from treatment. Consequently, prenatal dexamethasone treatment has been met with much controversy due to the potential adverse outcomes when exposed to high-dose steroids in utero. Here, we review the short- and long-term outcomes for fetuses and pregnant women exposed to dexamethasone treatment, the ethical considerations that must be taken into account, and current practice recommendations.

6.
Semin Perinatol ; 41(4): 206-213, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28478088

RESUMO

Disorders of sexual differentiation such as androgen insensitivity and gonadal dysgenesis can involve an intrinsic fluidity at different levels, from the anatomical and biological to the social (gender) that must be considered in the context of social constraints. Sex assignment models based on George Engel's biopsychosocial aspects model of biology accept fluidity of gender as a central concept and therefore help establish expectations within the uncertainty of sex assignment and anticipate potential changes. The biology underlying the fluidity inherent to these disorders should be presented to parents at diagnosis, an approach that the gender medicine field should embrace as good practice. Greek mythology provides many accepted archetypes of change, and the ancient Greek appreciation of metamorphosis can be used as context with these patients. Our goal is to inform expertise and optimal approaches, knowing that this fluidity may eventually necessitate sex reassignment. Physicians should provide sex assignment education based on different components of sexual differentiation, prepare parents for future hormone-triggered changes in their children, and establish a sex-assignment algorithm.


Assuntos
Transtornos do Desenvolvimento Sexual/história , Transtornos do Desenvolvimento Sexual/psicologia , Identidade de Gênero , Mitologia , Aconselhamento Sexual , Transtornos do Desenvolvimento Sexual/terapia , Feminino , Grécia Antiga , História do Século XXI , História Antiga , Humanos , Masculino , Mitologia/psicologia , Guias de Prática Clínica como Assunto , Padrões de Prática Médica , Aconselhamento Sexual/métodos , Cirurgia de Readequação Sexual
7.
Am J Med Genet A ; 173(5): 1294-1300, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28374929

RESUMO

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.


Assuntos
Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Síndrome de Costello/epidemiologia , Síndrome de Costello/fisiopatologia , Adolescente , Fatores Etários , Transtorno do Espectro Autista/genética , Criança , Pré-Escolar , Síndrome de Costello/genética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Comportamento Social , Inquéritos e Questionários
8.
J Abnorm Child Psychol ; 45(4): 743-748, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27523818

RESUMO

Several different conceptualizations of Oppositional Defiant Disorder (ODD) symptoms have been proposed, including one undivided set of symptoms (DSM-IV-TR; APA 2000); two domains of symptoms subdivided into affective and behavioral; and three domains of symptoms subdivided as angry/irritable, argumentative/defiant, and spiteful. The current study utilizes a novel approach to examining the division of ODD symptoms through use of network analysis. Participants were 109 preschoolers (64 male) between the ages of three and six (M = 4.34 years, SD = 1.08) and their parents and teachers/caregivers, who provided ratings of ODD symptoms. Results are consistent with one-, two-, and three- cluster solutions of ODD, but perhaps provide most support for the three-cluster solution. In addition, results support the idea that negative affect, particularly anger, forms the core of the ODD symptom network during preschool. These results suggest the importance of targeting anger in preschool interventions for ODD.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo/fisiopatologia , Modelos Estatísticos , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/classificação , Criança , Pré-Escolar , Feminino , Humanos , Masculino
9.
J Clin Psychol Med Settings ; 23(3): 240-6, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27448152

RESUMO

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.


Assuntos
Transtornos do Comportamento Infantil , Depressão , Transtorno Depressivo , Mães/psicologia , Adulto , Criança , Família , Feminino , Humanos , Masculino , Relações Mãe-Filho , Pais
10.
Pediatr Endocrinol Rev ; 13(3): 585-601, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27116846

RESUMO

45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis. Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature. Many require surgeries and hormonal treatments that are time-sensitive and irreversible. Nonetheless, these therapeutic decisions are made without evidence-based guidelines. This review describes the medical concerns and possible interventions in male patients with 45,X/46,XY dysgenesis for each stage of development. Interventions should be addressed within a patient-centered framework by a multidisciplinary team and after thorough discussion with the family. We use the GRADE system to appraise the existing evidence and provide recommendations based on the available evidence.


Assuntos
Prática Clínica Baseada em Evidências , Disgenesia Gonadal 46 XY/terapia , Procedimentos de Readequação Sexual/estatística & dados numéricos , Adolescente , Adulto , Criança , Prática Clínica Baseada em Evidências/normas , Feminino , Disgenesia Gonadal 46 XY/diagnóstico , Humanos , Recém-Nascido , Masculino , Guias de Prática Clínica como Assunto , Gravidez , Diagnóstico Pré-Natal , Procedimentos de Readequação Sexual/normas
11.
Pediatr Endocrinol Rev ; 14(1): 33-47, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28508615

RESUMO

Women with Turner Syndrome (TS) have a variety of medical needs throughout their lives; however, the peripubertal years are particularly challenging. From a medical perspective, the burden of care increases during this time due to growth optimization strategies, frequent health screenings, and puberty induction. Psychologically, girls begin to comprehend the long-term implications of the condition, including their diminished fertility potential. Unfortunately, clear guidelines for how to best approach this stage have not been established. It remains to be determined what is the best age to begin treatment; the best compound, dose, or protocol to induce puberty; how, when or what to discuss regarding fertility and potential fertility preservation options; and how to support them to accept their differences and empower them to take an active role in their care. Given the complexity of this life stage, a multidisciplinary treatment team that includes experts in endocrinology, gynecology, and psychology is optimal.


Assuntos
Fertilidade/fisiologia , Comunicação Interdisciplinar , Puberdade/fisiologia , Síndrome de Turner/terapia , Adolescente , Criança , Feminino , Preservação da Fertilidade/métodos , Humanos , Indução da Ovulação/métodos , Equipe de Assistência ao Paciente/organização & administração
12.
Pediatr Endocrinol Rev ; 12(4): 373-87, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26182482

RESUMO

Androgen insensitivity syndrome (AIS) is an undervirilization syndrome in individuals with 46, XY karyotype. The undervirilization can be complete feminization or incomplete virilization with grades of ambiguity. AIS is caused by mutations in the androgen receptor, resulting in resistance to the physiologic activities of androgens. Differing degrees of resistance lead to three phenotypes: a complete form with female-appearing external genitalia, a partial form with a wide range of virilization, and a mild form with only minor undervirilization. AIS presents different challenges depending on whether resistance is complete or partial. Challenges include sex assignment, which impacts other medical decisions such as gonadectomy, hormonal replacement, and other surgical interventions. This review describes medical, psychosocial, and ethical concerns for each stage of development in complete and partial AIS, from the neonatal period to adulthood. These aspects of care should be addressed within an ethical framework by a multidisciplinary team, with the patients and families being the stakeholders in the decision-making process. We use the GRADE system when appropriate to appraise the existing evidence and provide recommendations and guidelines for management of AIS and appropriate transition of patients from pediatric to adult care.


Assuntos
Síndrome de Resistência a Andrógenos/terapia , Adolescente , Adulto , Síndrome de Resistência a Andrógenos/fisiopatologia , Síndrome de Resistência a Andrógenos/psicologia , Androgênios/uso terapêutico , Criança , Pré-Escolar , Revelação , Transtornos do Desenvolvimento Sexual , Estrogênios/uso terapêutico , Feminino , Genitália , Gônadas/cirurgia , Humanos , Lactente , Recém-Nascido , Consentimento Livre e Esclarecido , Masculino , Neoplasias/etiologia , Fenótipo , Puberdade , Fatores de Risco , Procedimentos de Readequação Sexual , Fatores de Tempo
13.
Am J Med Genet A ; 167(7): 1632-6, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25899150

RESUMO

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.


Assuntos
Anormalidades Múltiplas/patologia , Ectromelia/patologia , Encefalocele/patologia , Transtornos Neurocognitivos/patologia , Fenótipo , Trombocitopenia/patologia , Anormalidades Urogenitais/patologia , Anormalidades Múltiplas/genética , Adolescente , Encéfalo/diagnóstico por imagem , Ectromelia/genética , Encefalocele/genética , Humanos , Imagem por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Desempenho Psicomotor/fisiologia , Trombocitopenia/genética , Tomografia Computadorizada por Raios X , Anormalidades Urogenitais/genética , Percepção Visual/fisiologia
14.
Curr Diab Rep ; 14(10): 533, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25142718

RESUMO

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.


Assuntos
Desenvolvimento Infantil , Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 1/psicologia , Neuroimagem/métodos , Estresse Psicológico/etiologia , Adolescente , Idade de Início , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Avaliação Educacional , Humanos , Hiperglicemia/fisiopatologia , Hiperglicemia/psicologia , Hipoglicemia/fisiopatologia , Hipoglicemia/psicologia , Fatores de Risco , Estresse Psicológico/fisiopatologia , Estresse Psicológico/psicologia , Adulto Jovem
15.
Diabetes Care ; 37(9): 2475-82, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24969580

RESUMO

OBJECTIVE: To determine whether impairments in neurocognitive functioning are detectable at type 1 diabetes diagnosis and associated with subsequent glycemic control. RESEARCH DESIGN AND METHODS: Children/adolescents (N = 147) aged 5-18 years completed neuropsychological testing during their inpatient hospitalization for new-onset type 1 diabetes. Test scores were compared with normative data using one-sample Student t tests. Children with onset before 8 years of age were compared with children aged 9-18 years using ANOVA, and associations between neurocognitive performance at diagnosis and glycemic control 1 year postdiagnosis were examined using regression analyses. RESULTS: Children with type 1 diabetes performed significantly below expectations on most neurocognitive measures (P values <0.0001), with large decrements from the normative mean evident in psychomotor speed (>1 SD), visuomotor integration (0.7 SD), and phonemic fluency (0.8 SD). High incidence of impairment (scores less than second percentile) was evident on all tasks except digit span. Dominant-hand psychomotor speed was significantly associated with poor glycemic control (A1C ≥9.5% [80 mmol/mol]; P = 0.032) 1 year postdiagnosis, controlling for race/ethnicity, sex, and reading ability. Impaired psychomotor speed was associated with a 0.77% increase in mean A1C (8.4 mmol/mol). CONCLUSIONS: Deficits were evident in neurocognitive functioning within days of diabetes diagnosis that were associated with diabetes outcomes over 1 year postdiagnosis. Impairment was most apparent in psychomotor speed, consistent with research implicating damage to posterior white matter tracts and associated gray matter regions in type 1 diabetes. Psychomotor impairment may be an early marker for a broader neurobehavioral vulnerability that has implications for long-term diabetes management.


Assuntos
Transtornos Cognitivos/diagnóstico , Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 1/psicologia , Hemoglobina A Glicada/análise , Testes Neuropsicológicos , Adolescente , Biomarcadores/análise , Glicemia/análise , Criança , Pré-Escolar , Transtornos Cognitivos/etiologia , Diabetes Mellitus Tipo 1/complicações , Grupos Étnicos , Feminino , Hospitalização , Humanos , Masculino , Desempenho Psicomotor
16.
Pediatr Endocrinol Rev ; 12(2): 224-38, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25581988

RESUMO

Nonclassical congenital adrenal hyperplasia (NCCAH) caused by 21-hydroxylase deficiency is a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood. The management of children with NCCAH can be challenging, as no universally accepted guidelines have been established. Our goal was to evaluate the literature and develop an evidence-based guideline for the medical management of children and adolescents with NCCAH. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and provide recommendations for the medical management of children and adolescents with NCCAH, appropriate transition practices from pediatric to adult endocrine care, and psychological issues that should be addressed in parents and patients with NCCAH. We offer recommendations, based on the available evidence, for the management of NCCAH at the different developmental stages from diagnosis through transition to adulthood.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/terapia , Endocrinologia/normas , Pediatria/normas , Guias de Prática Clínica como Assunto , Criança , Medicina Baseada em Evidências/normas , Humanos
17.
Pediatr Diabetes ; 15(3): 190-7, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24118977

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 1/terapia , Cetoacidose Diabética/prevenção & controle , Hiperglicemia/prevenção & controle , Modelos Psicológicos , Cooperação do Paciente , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/psicologia , Cetoacidose Diabética/epidemiologia , Cetoacidose Diabética/terapia , Serviço Hospitalar de Emergência , Feminino , Hemoglobina A Glicada/análise , Hospitais Pediátricos , Humanos , Hiperglicemia/epidemiologia , Estudos Longitudinais , Masculino , Ambulatório Hospitalar , Curva ROC , Estudos Retrospectivos , Medição de Risco/métodos , Fatores de Risco , Texas/epidemiologia
18.
Am J Med Genet A ; 161A(9): 2258-65, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23918324

RESUMO

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.


Assuntos
Síndrome de Costello/psicologia , Memória , Aprendizagem Verbal , Adaptação Psicológica , Adolescente , Adulto , Feminino , Humanos , Testes de Linguagem , Masculino , Recognição (Psicologia) , Análise e Desempenho de Tarefas , Adulto Jovem
19.
J Clin Psychol Med Settings ; 20(3): 323-32, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23575970

RESUMO

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.


Assuntos
Terapia Comportamental/métodos , Transtornos do Comportamento Infantil/terapia , Relações Pais-Filho , Poder Familiar/psicologia , Adulto , Criança , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Pais/psicologia , Avaliação de Programas e Projetos de Saúde/métodos , Avaliação de Programas e Projetos de Saúde/estatística & dados numéricos , Estresse Psicológico/psicologia , Resultado do Tratamento
20.
Int J Pediatr Endocrinol ; 2013(1): 7, 2013 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-23496938

RESUMO

OBJECTIVES: To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. DESIGN: After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006-2009 at Texas Children's Hospital (TCH), Houston, Texas. McNemar's test and Kappa agreement provided associations of various factors with sex assignment at birth prior to GMT assessment and after GMT assessment. PARTICIPANTS: Forty-seven patients seen in the GMC with confirmed DSD. RESULTS: Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/-6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. CONCLUSION: Long-term outcomes are needed to establish standardized practice guidelines for decision-making.

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