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1.
Am J Med Genet A ; 194(4): e63477, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37969032

RESUMEN

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials. This biannual meeting, organized by RASopathies Network, was held in a hybrid virtual/in-person format. The agenda featured emerging discoveries and case findings as well as progress in preclinical and therapeutic pipelines. Stakeholders including basic scientists, clinician-scientists, practitioners, industry representatives, patients, and family advocates gathered to discuss cutting edge science, recognize current gaps in knowledge, and hear from people with RASopathies about the experience of daily living. Presentations by RASopathy self-advocates and early-stage investigators were featured throughout the program to encourage a sustainable, diverse, long-term research and advocacy partnership focused on improving health and bringing treatments to people with RASopathies.


Asunto(s)
Síndrome de Costello , Displasia Ectodérmica , Cardiopatías Congénitas , Neoplasias , Síndrome de Noonan , Humanos , Proteínas ras/genética , Sistema de Señalización de MAP Quinasas/genética , Síndrome de Costello/genética , Neoplasias/genética , Displasia Ectodérmica/genética , Síndrome de Noonan/genética , Cardiopatías Congénitas/genética
2.
J Clin Psychol Med Settings ; 27(2): 256-267, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31560100

RESUMEN

This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, depression, alexithymia and symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder, have been previously described in NS. More information regarding personality and psychopathology in NS could improve mental health care for this population. Therefore, scores on the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF), a widely used self-report questionnaire of personality and psychopathology, were compared between patients with NS (n = 18) and matched, healthy controls (n = 18). Furthermore, correlations between MMPI-2-RF scores and alexithymia, measured by the Toronto Alexithymia Scale-20, were investigated. Patients with NS showed significantly higher scores, with medium effect sizes, on MMPI-2-RF scales reflecting infrequent responses (F-r), somatic and cognitive complaints (FBS-r and RBS-r), internalizing problems (EID), demoralization (RCd) and introversion (INTR-r), although the overall profile in both groups was within the non-clinical range. Alexithymia correlated with internalizing problems and negative emotionality in the patient group. In conclusion, patients with NS showed higher levels of introversion, which may predispose them to internalizing problems. These problems were indeed more frequent in patients with NS, especially higher levels of demoralization. Patients may benefit from psychological interventions aimed to decrease internalizing problems, introversion and alexithymia.


Asunto(s)
Trastornos de Ansiedad , Trastorno del Espectro Autista , Síndrome de Noonan , Trastornos de la Personalidad , Adulto , Ansiedad , Trastornos de Ansiedad/complicaciones , Trastorno del Espectro Autista/complicaciones , Femenino , Humanos , MMPI/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Síndrome de Noonan/complicaciones , Síndrome de Noonan/psicología , Personalidad , Trastornos de la Personalidad/complicaciones , Reproducibilidad de los Resultados , Autoinforme
3.
Am J Med Genet A ; 167A(4): 768-76, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25711203

RESUMEN

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values < 0.001), whereas women with NS had more trouble recognizing angry facial expressions in comparison with controls (P = 0.01). No significant group differences were found for the frequency of social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans.


Asunto(s)
Síntomas Afectivos/etiología , Asertividad , Síndrome de Noonan/psicología , Síndrome de Turner/psicología , Adulto , Estudios de Casos y Controles , Emociones , Femenino , Humanos , Adulto Joven
4.
Orphanet J Rare Dis ; 18(1): 198, 2023 07 21.
Artículo en Inglés | MEDLINE | ID: mdl-37480127

RESUMEN

BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype is, among others, due to the numerous different genes that are involved, and the differences in clinical presentation over the life span. We have studied the needs of patients and their relatives aiming to develop, evaluate and choose focus in research, medical care and policy to better meet their perspectives. METHODS: Using the participatory and interactive Dialogue method, 80 patients and relatives mentioned 53 different problems or needs (topics) that were categorized into eight themes. These themes and the topics within each theme, were subsequently prioritized by putting them in order of importance methodologically. RESULTS: The four highest prioritized themes were: (1) Physical problems (non-musculoskeletal related); (2) Social, emotional and behavioral problems; (3) Cognitive functioning and information processing; and (4) Problems related to the musculoskeletal system. Nineteen out of the 53 topics were physical problems. According to the total group of respondents, the top 3 prioritized topics within theme 1 were coagulation problems, heart problems, and feeding problems. Also data stratified by age groups, phenotype (NS and other NSSDs) and gender showed some remarkable results. For instance, feeding problems were prioritized as the most important topic of the highest prioritized theme, according to patients aged 0-12 years. Also feeding problems show a significant difference in its prioritization according to female patients (2) compared to male patients (7). On the other hand, heart problems were not mentioned in the top three prioritized topics in the youngest age groups, although heart problems are generally considered most important for patients with NSSD. CONCLUSIONS: With our results we underline the importance of methodologically inventorying the needs of NSSD patients, not only at the group level, but to also focus on specific needs according to e.g. age, phenotype and gender. For instance, it is remarkable that both the current Clinical Guidelines and the Noonan Syndrome diagnostic criteria give little to no attention to feeding problems, though our results indicate that, to the youngest patients, these problems have top priority. A similar situation appears to apply to the clinical management of e.g. coagulation, neuropsychological and musculoskeletal problems (like physiotherapy or occupational therapy) and to a need for (educational) tools to support patients at school or at work. Our study may help to shape targeted (clinical) management, research and policy inside and outside medical (research) institutes and shed light on the complex phenotypes of NSSDs, the families' and patients' perspectives on the everyday consequences of the many different problems, as well as their needs.


Asunto(s)
Síndrome de Noonan , Humanos , Masculino , Femenino , Síndrome de Noonan/genética , Síndrome de Noonan/diagnóstico , Cognición , Fenotipo
5.
J Clin Med ; 11(16)2022 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-36012976

RESUMEN

Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings are based on studies in which patients with variants in PTPN11 (prevalence ~50%) were overrepresented. The current study, using a structured clinical approach, describes the cognitive phenotype and psychopathology of 100 patients (aged 6 to 61 years) with nine different gene variants in the Ras/MAPK pathway underlying NSSDs (PTPN11n = 61, PTPN11 Noonan syndrome with multiple lentigines n = 3, SOS1n = 14, KRASn = 7, LZTR1n = 5, RAF1n = 4, SHOC2n = 2, CBLn = 2, SOS2n = 2). After weighted assessment and bootstrapping of the results of individual neuropsychological assessments and measures of psychopathology, cognitive performances in most variant groups were within the ranges of expectation. IQs were significantly lower in patients with variants in PTPN11, KRAS, RAF1, and SHOC2, but no specific cognitive impairments were found. The performances of younger participants (<16 years of age) did not differ from those of adults. Alexithymia and internalizing problems were more frequent in patients with variants in PTPN11 and SOS1, while PTPN11 patients also showed higher levels of externalizing problems. These results stress the need to take intelligence into account when interpreting lower cognitive performances in individual neuropsychological assessments, which is crucial for an adequate understanding and guidance of patients with NSSDs.

6.
Neuropsychiatr Dis Treat ; 15: 611-626, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30880986

RESUMEN

PURPOSE: Noonan syndrome (NS) is a genetic disorder that is associated with social cognitive problems. While treatment aimed at the improvement of social cognition is available for other neuropsychiatric disorders, no such interventions yet exist for NS patients. In this study, the development of the first social cognitive training for NS patients is described and its applicability and feasibility evaluated. METHODS: Eleven adult patients with NS participated in this controlled proof-of-principle study. Six patients were included in the treatment group and five in the control group. Neuropsychological testing was performed in both groups at baseline and posttreatment. Social cognition was a primary outcome measure and nonsocial cognition and psychopathology secondary outcome measures. Differences between pre- and posttest were investigated with Wilcoxon signed-rank tests, and a process evaluation was performed to aid interpretation of the results. RESULTS: Both groups were comparable with regard to age, estimated intelligence, and baseline performance. Although no significant differences were found between pre- and posttest scores on primary and secondary outcome measures in either group, a medium-large effect size was found on emotion recognition in the treatment group. Also, the process evaluation demonstrated the feasibility of the training. CONCLUSION: This first social cognitive training for adult patients with NS has proven to be feasible for this population and showed some encouraging results regarding emotion recognition, although the training protocol could be optimized. Further investigation is required using a randomized controlled design in a larger sample, in order to substantiate the overall effectiveness of the training.

7.
Brain Behav ; 6(7): e00479, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27247851

RESUMEN

INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome. METHODS: Sixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores. RESULTS: Compared with childhood scores, adult full-scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index. DISCUSSION: Childhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.


Asunto(s)
Inteligencia/fisiología , Síndrome de Noonan/fisiopatología , Síndrome de Noonan/psicología , Adolescente , Niño , Femenino , Humanos , Pruebas de Inteligencia , Estudios Longitudinales , Masculino
8.
J Clin Exp Neuropsychol ; 34(7): 714-23, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22443370

RESUMEN

In this study, we compared neuropsychological tests and parent-based ratings of flexibility in a sample of children with autism spectrum disorders (ASD). We investigated the discriminant validity of the domain-specific flexibility measures by comparison with the domain general measures, general behavioral problems, general ASD-related traits, and general intelligence. Tests and parent-based ratings of flexibility were not significantly correlated. Parent-based ratings were strongly related with the three broadband measures, whereas the discriminant validity indices of the neuropsychological tests were satisfactory. These findings suggest that parent-based ratings do not reflect the specific executive construct of flexibility, but instead reflect a broad spectrum of general child characteristics.


Asunto(s)
Trastornos Generalizados del Desarrollo Infantil/psicología , Función Ejecutiva , Padres , Adolescente , Niño , Humanos , Inteligencia , Masculino , Pruebas Neuropsicológicas
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