RESUMEN
BACKGROUND: There is a growing interest in exploring parents' views on the benefits of early diagnosis and awareness of sex chromosome trisomies. However, only a few studies focus specifically on the experience of parents of children with XYY syndrome. The present study aimed to assess, in parents of individuals with XYY, the perceived severity of their children's condition, their level of satisfaction with the disclosure process and their concerns about their children's present and future condition. METHODS: A national online sample of 56 Italian parents of children and young adults diagnosed with XYY syndrome participated in the study. They filled out a specifically developed online survey that assessed their children's areas of concern, their experience with the disclosure process and their worries about their children's condition. RESULTS: Seventy per cent of the parents received a prenatal diagnosis, whereas 30% received a postnatal diagnosis. High individual variability was found in the parent report of their child's condition. The most frequent areas of concern were attention regulation, emotion control and behaviour control. Individuals with a postnatal diagnosis showed more severe profiles. Parents were generally dissatisfied with the disclosure process, with no differences between prenatal and postnatal disclosure. However, more than 50% of the parents who received a prenatal disclosure reported that their child's condition was less severe than they had expected. In contrast, only 11% of the parents with postnatal disclosure reported this situation. Parents' concerns were negatively related to global satisfaction with the disclosure process and the correspondence between current and expected conditions but positively associated with the child's severity level. CONCLUSIONS: The results suggest that clear and realistic information during the disclosure process to parents is needed in both prenatal and postnatal communication and may alleviate parents' concerns.
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Padres , Humanos , Masculino , Femenino , Padres/psicología , Adulto , Niño , Adolescente , Adulto Joven , Diagnóstico Prenatal/psicología , Preescolar , Italia , Cariotipo XYY/psicología , Cariotipo XYY/diagnóstico , Encuestas y Cuestionarios , Trastornos de los Cromosomas Sexuales/psicología , Trastornos de los Cromosomas Sexuales/diagnóstico , Revelación de la VerdadRESUMEN
Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome (RSTS). However, previous research relied on a cross-sectional study design turning into age-related comparisons of different syndromic cohorts to explore age-dependent changes. We aim to outline the variating pathways of the neuropsychiatric functioning across the lifespan in CdLS and RSTS, through the setting up of a longitudinal study design. The sample included 14 patients with CdLS and 15 with RSTS. The assessments were carried out in two different timepoints. Our findings highlight that the cognitive profile of CdLS is subjected to a worsening trend with decreasing Intellectual Quotient (IQ) scores from T0 to T1, whereas RSTS shows a stable IQ over time. Patients affected by RSTS show greater improvements compared to CdLS in communication, daily living skills, social abilities, and motor skills across the lifespan. Both syndromes report an upward trend in behavioral and emotional difficulties even if CdLS exhibit a significant and major deterioration compared to individuals with RSTS. Being aware of the early dysfunctional patterns which might pave the way for later neuropsychiatric impairments is the first step for planning preventive interventions.
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Síndrome de Cornelia de Lange , Síndrome de Rubinstein-Taybi , Humanos , Síndrome de Rubinstein-Taybi/genética , Síndrome de Rubinstein-Taybi/psicología , Estudios Longitudinales , Estudios Transversales , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , FenotipoRESUMEN
OBJECTIVES: Remission in systemic lupus erythematosus (SLE) is defined through a combination of 'clinical SLE Disease Activity Index (cSLEDAI)=0', 'physician's global assessment (PGA) <0.5' and 'prednisone (PDN) ≤5 mg/day'. We investigated the performance of these items, alone or in combination, in defining remission and in predicting SLICC/ACR Damage Index. METHODS: We tested seven potential definitions of remission in SLE patients followed-up for ≥5 years: PDN ≤5 mg/day; PGA <0.5; cSLEDAI=0; PGA <0.5 plus PDN ≤5 mg/day; cSLEDAI=0 plus PGA <0.5; cSLEDAI=0 plus PDN ≤5 mg/day; cSLEDAI=0 plus PDN ≤5 mg/day plus PGA <0.5. The effect of these definitions on damage was evaluated by Poisson regression analysis; the best performance was identified as the lowest Akaike and Bayesian information criterion (AIC and BIC). Positive and negative predictive values in identifying no damage increase were calculated. RESULTS: We included 646 patients (mean±SD disease duration 9.2±6.9 years). At multivariate analysis, ≥2 consecutive year remission according to all definitions protected against damage (OR, 95% CI: PGA <0.5 0.631, 0.444 to 0.896; cSLEDAI=0 0.531, 0.371 to 0.759; PGA <0.5 plus PDN ≤5 mg/day 0.554, 0.381 to 0.805; cSLEDAI=0 plus PGA <0.5 0.574, 0.400 to 0.826; cSLEDAI=0 plus PDN ≤5 mg/day 0.543, 0.376 to 0.785; cSLEDAI=0 plus PDN ≤5 mg/day plus PGA <0.5 0.532, 0.363 to 0.781, p<0.01 for all), except PDN ≤5 mg/day, which required four consecutive years (OR 0.534, 95% CI 0.325 to 0.877, p=0.013). Positive and negative predictive values were similar; however, cSLEDAI=0 showed the best performance (AIC 1082.90, BIC 1109.72, p<0.0001). Adding PGA <0.5 and/or PDN ≤5 mg/day to cSLEDAI=0 decreased remission duration (-1.8 and -1.5 year/patient, respectively) without increasing cSLEDAI=0 performance in predicting damage accrual. CONCLUSIONS: cSLEDAI=0 is the most attainable definition of remission, while displaying the best performance in predicting damage progression in the short-to-mid-term follow-up.
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Lupus Eritematoso Sistémico/clasificación , Lupus Eritematoso Sistémico/tratamiento farmacológico , Evaluación de Resultado en la Atención de Salud/métodos , Índice de Severidad de la Enfermedad , Adulto , Antiinflamatorios/administración & dosificación , Teorema de Bayes , Estudios de Cohortes , Progresión de la Enfermedad , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Análisis Multivariante , Prednisona/administración & dosificación , Análisis de Regresión , Inducción de RemisiónRESUMEN
OBJECTIVES: Systemic sclerosis (SSc) is a severe multiple-organ disease characterised by unpredictable clinical course, inadequate response to treatment, and poor prognosis. National SSc registries may provide large and representative patients cohorts required for descriptive and prognostic studies. Therefore, the Italian Society for Rheumatology promoted the registry SPRING (Systemic sclerosis Progression INvestiGation). METHODS: The SPRING is a multi-centre rheumatological cohort study encompassing the wide scleroderma spectrum, namely the primary Raynaud's phenomenon (pRP), suspected secondary RP, Very Early Diagnosis of Systemic Sclerosis (VEDOSS), and definite SSc. Here we describe the demographic and clinical characteristics of a population of 2,028 Italian patients at the initial phase of enrolment, mainly focusing on the cohort of 1,538 patients with definite SSc. RESULTS: Definite SSc showed a significantly higher prevalence of digital ulcers, capillaroscopic 'late' pattern, oesophageal and cardio-pulmonary involvement compared to VEDOSS, as expected on the basis of the followed classification criteria. The in-depth analysis of definite SSc revealed that male gender, diffuse cutaneous subset, and anti-Scl70 seropositivity were significantly associated with increased prevalence of the most harmful disease manifestations. Similarly, patients with very short RP duration (≤1 year) at SSc diagnosis showed a statistically increased prevalence of unfavourable clinico-serological features. CONCLUSIONS: Nationwide registries with suitable subsetting of patients and follow-up studies since the prodromal phase of the disease may give us valuable insights into the SSc natural history and main prognostic factors.
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Enfermedad de Raynaud , Esclerodermia Sistémica , Estudios de Cohortes , Humanos , Italia , Masculino , Angioscopía Microscópica , Sistema de RegistrosRESUMEN
BACKGROUND: Although language difficulties are one of the most distinctive characteristics of the neuropsychological profile of children with sex chromosome trisomies (SCT), the analysis of the maternal input addressed to them is a neglected topic. AIMS: The present study aims to analyse the lexical, morphosyntactic, and functional features of the input addressed to children with SCT comparing them with those of the input directed to typically developing children (TD). METHODS & PROCEDURES: Participants were 38 mothers and their 8-month-old children, 19 with SCT and 19 TD children. Maternal utterances, collected during video-recorded play sessions, have been transcribed and coded. OUTCOMES & RESULTS: No significant differences between groups have been found in the lexical and syntactic characteristics of maternal input. However, considering the input functional features, the proportion of directives and questions was significantly higher in the maternal input addressed to children with SCT than in the input addressed to TD children whereas the opposite pattern was found in the proportion of affect-salient speech. CONCLUSIONS & IMPLICATIONS: The awareness of a possible delay in their children's language development could influence the way the mothers speak to them. In particular, the functional features of maternal input could be affected. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development. What this paper adds What is already known on the subject Studies in the literature identified a high percentage of language delays or impairments in children with SCT. To date, according to our knowledge, there are no studies that analyse the linguistic input addressed to these children. What this study adds The lexical and syntactic features of maternal input addressed to 8-month-old children with SCT are adequate to the children's communicative skills. However, the mothers of children with SCT seem to provide additional scaffolding in their verbal input, using a lower proportion of affect-salient speech and a higher proportion of questions. In addition, a higher proportion of directives suggests the use of a more demanding style. Clinical implications of this study The awareness of possible language delays could influence the functional features of input leading mothers to use a more supportive and demanding input. Support groups for parents of children with SCT at the preverbal stage could be useful to reassure the mothers about their role in their children's language development.
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Trastornos del Desarrollo del Lenguaje/rehabilitación , Conducta Materna/psicología , Relaciones Madre-Hijo/psicología , Trastornos de los Cromosomas Sexuales/complicaciones , Trisomía , Adulto , Estudios de Casos y Controles , Lenguaje Infantil , Comunicación , Femenino , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/genética , Lingüística , Masculino , Trastornos de los Cromosomas Sexuales/psicologíaRESUMEN
BACKGROUND: The aim of this study is twofolded: to present a multi-disciplinary and multi-centric approach in the early care of patients with Klinefelter Syndrome (KS) and their families and to increase the knowledge about the behavioral phenotype of preschool boys with KS. METHODS: Fifteen boys (mean age 2 years and 7 months) who had been diagnosed prenatally were evaluated in the areas of adaptive skills, developmental level, language, and behavior. Besides offering information about their child, both parents of each couple were asked to describe their feelings at the time of the prenatal diagnosis and at the time of the study. RESULTS: The behavioral phenotype of the boys of our sample was characterized by a mean Developmental Quotient of 95 (in the normal range) but by low scores in the domain of communication, particularly in the area of expressive language. Behavioral problems were observed in some of the children, and the parents reported significant levels of distress related to their relationship with the child. All parents recalled feeling very anxious when the diagnosis was given, but nine of them (75%) said their concern diminished after receiving genetic counselling. CONCLUSIONS: A multi-disciplinary model is essential in the care of 47,XXY boys and in the assistance to their families, in order both to facilitate the children's growth and offer to the parents updated clinical and psychosocial information about the Klinefelter Syndrome and support.
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Comunicación , Síndrome de Klinefelter/fisiopatología , Relaciones Padres-Hijo , Padres/psicología , Preescolar , Femenino , Humanos , Lactante , Comunicación Interdisciplinaria , Síndrome de Klinefelter/diagnóstico , Masculino , Embarazo , Diagnóstico PrenatalRESUMEN
OBJECTIVES: To review the relationships between vitamin D status and systemic lupus erythematosus (SLE) concerning immunological, clinical aspects and possible effects of supplementation in disease modulation. METHODS: The literature was reviewed up to January 2017 for studies regarding the epidemiology, pathogenesis, immunological aspects, clinical implications and supplementation strategies. The focus was mainly on studies with implications on every day clinical practice. RESULTS: Vitamin D interacts with immune system mechanisms, therefore, it may be involved in the pathogenesis of autoimmune diseases. The literature is concordant on vitamin D insufficiency being endemic in SLE patients. Data on the correlation between SLE disease activity and circulating levels of vitamin D are controversial, as well as those related to the immunomodulatory effects of vitamin D supplementation. Novel areas of study are the relationship between constitutional symptoms and cognitive involvement of SLE and hypovitaminosis D, and the possible role of vitamin D in the formation of the atherosclerotic plaque, opening new avenues for the modulation of the cardiovascular risk. CONCLUSIONS: Future studies are needed to fully understand the relationship between hypovitaminosis D and different aspects of SLE. The most challenging topic will be to clarify supplementation strategies with vitamin D analogues that can be effective in modulating disease activity.
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Autoinmunidad , Lupus Eritematoso Sistémico/inmunología , Deficiencia de Vitamina D/inmunología , Vitamina D/inmunología , Animales , Antiinflamatorios/uso terapéutico , Autoinmunidad/efectos de los fármacos , Suplementos Dietéticos , Humanos , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Lupus Eritematoso Sistémico/epidemiología , Pronóstico , Factores de Riesgo , Vitamina D/uso terapéutico , Deficiencia de Vitamina D/diagnóstico , Deficiencia de Vitamina D/tratamiento farmacológico , Deficiencia de Vitamina D/epidemiologíaRESUMEN
BACKGROUND: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. AIMS: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The purpose was to verify the existence of possible differences in communicative skills (in both vocal and gestural modality) and identify the presence of possible early predictors (i.e., low vocabulary size and low gesture production) of later language impairment in children with SCT. METHODS & PROCEDURES: Fifteen 24-month-old children with SCT (eight males with Klinefelter syndrome (KS) and seven females with triple X syndrome (TX)) and fifteen 24-month-old TD children (eight males and seven females) participated in the study. Their spontaneous communicative productions were assessed during a semi-structured play session in interaction with a parent. In addition, their vocabulary size was assessed using a parental report (the Italian version of the MacArthur Communicative Development Inventories). OUTCOMES & RESULTS: With regards to their vocabulary size, 60% of children with SCT (75% of children with KS and 43% of children with TX) were at risk for language impairments (i.e., they had a vocabulary size smaller than 50 words). In addition, TD children showed better lexical and syntactic skills than children with SCT in their spontaneous communicative productions. However, the production of communicative gestures was higher in children with SCT than in TD children. Boys with KS appeared to differ from TD males in more aspects of communication than girls with TX differed from TD females. CONCLUSIONS & IMPLICATIONS: The study showed the importance of early detection of language risk factors in children with SCT, while also considering the use of compensatory strategies (e.g., the use of communicative gestures).
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Gestos , Síndrome de Klinefelter/psicología , Trastornos de los Cromosomas Sexuales del Desarrollo Sexual/psicología , Habla , Lenguaje Infantil , Preescolar , Cromosomas Humanos X , Femenino , Humanos , Masculino , Aberraciones Cromosómicas Sexuales , Medición de la Producción del Habla , Trisomía , VocabularioRESUMEN
Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size. Children with KS showed a lower competence in both lexical skills and emergent syntactic abilities than TD peers. No significant differences were found in gesture production. Considering the possibility of identifying an association between early communicative skills and later vocabulary size, the vocal production of TD children appeared to be significantly related to their later lexical skills; whereas, the number of gestures produced by children with KS appeared to be related to their later lexical abilities. The early detection of language risk factors will allow early intervention and careful monitoring of these children's communicative development.
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Lenguaje Infantil , Síndrome de Klinefelter , Vocabulario , Gestos , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/diagnóstico , MasculinoRESUMEN
Despite some case reports and small series of women with silicone breast implants (SBI) developing Systemic Sclerosis (SSc), no clear evidence of an association of SBI with SSc is available. However, SSc is characterized by clinical and immunological heterogeneity and autoantibodies are currently the best markers to stratify this heterogeneity of patients. Therefore, we have reviewed the literature for details of autoantibody characterization in reports of SSc associated with SBI. Moreover, the case of an anti-RNA polymerase III-positive SSc with rapid onset and progression, in which SBI rupture was found is described. This case may support a previous observation suggesting a possible role of SBI rupture as a trigger for anti-RNA polymerase III-positive SSc. This possible causal role may be reinforced by the observation that in our patient, despite immunosuppressive treatment, the disease progressed until SBI were removed, and reduction of anti-RNA polymerase III titer was obtained after rituximab treatment. This result may support data suggesting that B-cell depleting therapy may decrease specific autoantibody level in SSc patients, and that these changes are associated with disease improvement.
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Linfocitos B/inmunología , Implantes de Mama , ARN Polimerasa III/inmunología , Esclerodermia Sistémica/inmunología , Autoanticuerpos/inmunología , Femenino , Humanos , Depleción Linfocítica , Persona de Mediana Edad , SiliconasRESUMEN
Nowadays, most of the young women affected by Systemic Lupus Erythematosus (SLE) can carry out one or more pregnancies thanks to the improvement in treatment and the consequent reduction in morbidity and mortality. Pregnancy outcome in these women has also greatly improved in the last decades. A correct timing for pregnancy (tailored on disease activity and established during a preconception counselling), together with a tight monitoring during the three trimesters and the post-partum period (to timely identify and treat possible obstetric complications or maternal disease flares), as well as the concept of multidisciplinary management, are currently milestones of the management of pregnancy in SLE patients. Nevertheless, the increasing knowledge on the compatibility of drugs with pregnancy has allowed a better treatment of these patients, by choosing medications that control maternal disease activity without harming the foetus. However, particular attention and strict monitoring should be dedicated to SLE pregnant women in particular clinical settings: patients with lupus nephritis and patients with aPL positivity or Antiphospholipid syndrome, who are at higher risk for maternal and foetal complications, but also patients with anti-Ro/SSA and/or anti-La/SSB antibodies, because of the risk of neonatal lupus. A discussion on family planning, as well as counselling on contraception, should be part of the everyday-practice for physicians caring for SLE women during their reproductive age. Another issue is the possible reduction of fertility in these women, that can be due to different reasons. Consequently, the request for assisted reproduction techniques has been increasing in the last years, so that rheumatologists and gynaecologists should be prepared to counsel SLE patients also in this particular setting.
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Lupus Eritematoso Sistémico/inmunología , Complicaciones del Embarazo/inmunología , Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/inmunología , Autoanticuerpos/inmunología , Anticoncepción , Consejo , Manejo de la Enfermedad , Femenino , Fertilidad , Humanos , Lactancia , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapia , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/inmunología , Nefritis Lúpica/terapia , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/terapia , Resultado del Embarazo , Técnicas Reproductivas AsistidasRESUMEN
OBJECTIVES: Patients with systemic lupus erythematosus (SLE) are prone to hypo-vitaminosis D because of their photosensitivity. Vitamin D (vit.D) has beneficial effects not only on bone metabolism but also on the function of the immune system. The relationship between SLE disease activity and vit.D status is controversial and little is known on the effects of current supplementation strategies given for osteoporosis in raising vit.D levels. METHODS: Vit.D levels were measured longitudinally in 50 SLE patients from Northern Italy at two time-points (winter and summer) during disease remission. Thirty patients were also evaluated during a flare. As controls, 170 healthy donors were enrolled. All the samples were analysed for 25-OH vit.D levels by a chemiluminescence assay (DiaSorin SpA, Italy). RESULTS: SLE patients had lower vit.D levels than controls in the summer (median 29.4 vs. 39.2 ng/ml, p=0.005) but not in the winter (26.4 vs. 21.6 ng/ml). During wintertime, 36 SLE patients were supplemented with vit.D drops (n=24; 48%), vit.D+calcium tablets (n=12; 24%), while 14 (28%) received no supplementation. Patients on oral drops had significantly higher vit.D levels than patients on tablets. The median weekly dosage was higher for oral drops than for tablets (6250 vs. 4560 UI, p=0.009). Winter flares were associated with lower vit.D levels in comparison with remission during the same season for each patient (21.1 vs. 30 ng/ml). CONCLUSIONS: Current strategies of vit.D supplementation seem to be not sufficient for reaching an optimal vit.D status in Italian SLE patients. Vit.D and calcium tablets were less effective, probably because of lower vit.D content and poorer compliance. Vit.D insufficiency detected in the wintertime can be either a predisposing factor for flare or the consequence of the flare itself in SLE patients.
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Lupus Eritematoso Sistémico/epidemiología , Estaciones del Año , Deficiencia de Vitamina D/epidemiología , Administración Oral , Adolescente , Adulto , Anciano , Biomarcadores/sangre , Calcio/administración & dosificación , Suplementos Dietéticos , Femenino , Humanos , Inmunosupresores/uso terapéutico , Italia/epidemiología , Estudios Longitudinales , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Recurrencia , Inducción de Remisión , Estudios Retrospectivos , Factores de Riesgo , Comprimidos , Factores de Tiempo , Resultado del Tratamiento , Vitamina D/administración & dosificación , Vitamina D/análogos & derivados , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/diagnóstico , Deficiencia de Vitamina D/tratamiento farmacológico , Adulto JovenRESUMEN
In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans.
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Conducta del Adolescente/fisiología , Trastorno Autístico/psicología , Conducta Infantil/fisiología , Cognición/fisiología , Comunicación , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/psicología , Adolescente , Trastorno Autístico/diagnóstico , Niño , Preescolar , Síndrome de Cornelia de Lange/genética , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Análisis y Desempeño de TareasRESUMEN
IgA antiphospholipid antibodies (aPL) are not currently recognized as formal laboratory criteria for the Antiphospholipid Syndrome (APS). This is mainly due to methodological issues (different study designs, use of various non-standardized IgA assays). However, there are experimental data showing the pathogenic role of IgA anti-cardiolipin antibodies (aCL) and IgA anti-ß2glycoprotein I antibodies (anti-ß2GPI). Isolated IgA aCL are not very common, therefore their testing could be useful in the case of strong suspicion of APS but negative results for other aPL tests. IgA anti-ß2GPI seem to be the most prevalent isotype in patients with Systemic Lupus Erythematosus (SLE), with a significant association with thrombotic events. Such a clinical relevance has been recently recognized by the inclusion of these autoantibodies among the aPL tests in the novel SLICC classification criteria for SLE. Emerging interest has been raised by IgA anti-ß2GPI against domain 4/5 as a novel subgroup of clinically relevant aPL.
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Síndrome Antifosfolípido/diagnóstico , Autoanticuerpos/análisis , Inmunoglobulina A/análisis , Lupus Eritematoso Sistémico/diagnóstico , beta 2 Glicoproteína I/inmunología , Anticuerpos Anticardiolipina/análisis , Biomarcadores/análisis , HumanosRESUMEN
PURPOSE: This study aimed to describe speech sound development in a group of 18-month-old children with sex chromosome trisomies (SCTs), compared with a group of typically developing (TD) peers. Concurrent and longitudinal relationships between speech sound abilities and lexical development were examined. METHOD: A group of 76 children aged 18 months, 38 children prenatally diagnosed with SCTs (12 with XXY, 12 with XYY, and 14 with XXX) and 38 TD children, participated in the study. From video recordings of semistructured naturalistic parent-child play sessions, quantitative and qualitative measures of speech sound development were collected (e.g., the number of consonants, type and place of articulation, and syllable structures used), and group differences were observed. The relationships between the number of consonants produced and vocabulary size at 18 and 24 months were assessed. RESULTS: At 18 months, children with SCTs used a significantly lower number of consonants than TD children. Qualitatively, children with SCTs used significantly fewer articulatory complex consonants (fricative/affricates) and a more restricted inventory of syllable structures. The number of consonants used was significantly correlated with lexical development at 18 months. Moreover, in the SCTs group (but not in the TD group), the children with lower speech sound development at 18 months showed a significantly smaller vocabulary growth between 18 and 24 months than those with higher speech-sound development. CONCLUSIONS: Toddlers with SCTs showed a significantly delayed speech sound development pattern rather than an atypical one. Children with SCTs with low speech sound development also showed lower vocabulary growth between 18 and 24 months of age. These results can be clinically relevant for follow-up and treatment planning for children with SCTs.
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Lenguaje Infantil , Fonética , Humanos , Niño , Lactante , Trisomía/diagnóstico , Medición de la Producción del Habla , Cromosomas Sexuales , HablaRESUMEN
Introduction: The impact of COVID-19 pandemic represents a serious challenge for 'frail' patients' populations with inflammatory autoimmune systemic diseases such as systemic sclerosis (SSc). We investigated the prevalence and severity of COVID-19, as well the effects of COVID-19 vaccination campaign in a large series of SSc patients followed for the entire period (first 38 months) of pandemic. Patients and method: This prospective survey study included 1755 unselected SSc patients (186 M, 1,569F; mean age 58.7 ± 13.4SD years, mean disease duration 8.8 ± 7.3SD years) recruited in part by telephone survey at 37 referral centers from February 2020 to April 2023. The following parameters were carefully evaluated: i. demographic, clinical, serological, and therapeutical features; ii. prevalence and severity of COVID-19; and iii. safety, immunogenicity, and efficacy of COVID-19 vaccines. Results: The prevalence of COVID-19 recorded during the whole pandemic was significantly higher compared to Italian general population (47.3 % vs 43.3 %, p < 0.000), as well the COVID-19-related mortality (1.91 % vs 0.72 %, p < 0.001). As regards the putative prognostic factors of worse outcome, COVID-19 positive patients with SSc-related interstitial lung involvement showed significantly higher percentage of COVID-19-related hospitalization compared to those without (5.85 % vs 1.73 %; p < 0.0001), as well as of mortality rate (2.01 % vs 0.4 %; p = 0.002). Over half of patients (56.3 %) received the first two plus one booster dose of vaccine; while a fourth dose was administered to 35.6 %, and only few of them (1.99 %) had five or more doses of vaccine. Of note, an impaired seroconversion was recorded in 25.6 % of individuals after the first 2 doses of vaccine, and in 8.4 % of patients also after the booster dose. Furthermore, the absence of T-cell immunoreactivity was observed in 3/7 patients tested by QuantiFERON® SARSCoV-2 Starter Set (Qiagen). The efficacy of vaccines, evaluated by comparing the COVID-19-related death rate recorded during pre- and post-vaccination pandemic periods, revealed a quite stable outcome in SSc patients (death rate from 2.54 % to 1.76 %; p = ns), despite the significant drop of mortality observed in the Italian general population (from 2.95 % to 0.29 %; p < 0.0001). Conclusions: An increased COVID-19 prevalence and mortality rate was recorded in SSc patients; moreover, the efficacy of vaccines in term of improved outcomes was less evident in SSc compared to Italian general population. This discrepancy might be explained by concomitant adverse prognostic factors: increased rate of non-responders to vaccine in SSc series, low percentage of individuals with four or more doses of vaccine, ongoing immunomodulating treatments, disease-related interstitial lung disease, and/or reduced preventive measures in the second half of pandemic. A careful monitoring of response to COVID-19 vaccines together with adequate preventive/therapeutical strategies are highly recommendable in the near course of pandemic in this frail patients' population.
RESUMEN
Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals.
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Trastorno del Espectro Autista , Síndrome de Cornelia de Lange , Trastorno del Espectro Autista/genética , Proteínas de Ciclo Celular/genética , Síndrome de Cornelia de Lange/diagnóstico , Genotipo , Humanos , FenotipoRESUMEN
OBJECTIVE: Children and adolescents with sex chromosome trisomies (SCTs) usually show a higher frequency of behavioral problems than typically developing (TD) children. However, little is known about the presence of behavioral issues in toddlers with SCT. This study aimed at investigating their behavioral profile in the second year of life and its impact on maternal stress. METHOD: Participants were 87 children ranging in age from 18 to 26 months: 63 children with SCTs (all diagnosed prenatally) and 24 TD children. Their psychomotor and language development and their behavioral profile were assessed. In addition, the level of maternal parenting stress was evaluated. RESULTS: Both psychomotor and language development were significantly lower in children with SCTs than in TD children. Conversely, no significantly greater behavioral problems emerged in children with SCTs. However, a significantly higher level of parenting stress related to a dysfunctional interaction with the child emerged in the mothers of children with SCTs. In this population, maternal stress seemed positively related to their children's emotional problems and pervasive disorders and negatively related to their children's psychomotor and linguistic competence. CONCLUSION: Although no significant behavioral issues emerged in the second year of life, the relationships found between children's behavioral profiles and maternal parenting stress highlight the importance of prenatal counseling and support groups for parents of children with SCTs. This might help them recognize the first signs of behavioral problems and become aware of their influence on parenting stress.
Asunto(s)
Responsabilidad Parental , Problema de Conducta , Adolescente , Preescolar , Femenino , Humanos , Lactante , Madres/psicología , Responsabilidad Parental/psicología , Cromosomas Sexuales , Estrés Psicológico/psicología , TrisomíaRESUMEN
Many individual factors, such as early communicative skills, could play a role in explaining later linguistic outcomes. The detection of predictive variables is fundamental to identifying early the children who need intervention. The present study focuses on children with sex chromosome trisomies (SCTs), genetic conditions with an increased risk of developing language delays or impairments. The aims are to analyse their communicative skills at 18 months of age, and identify significant predictors of their later vocabulary size. Participants were 76 18-month-old children (38 with SCTs, and 38 typically-developing (TD) children). Their communicative skills were assessed during a parent-child play session, and parents filled in a report on their vocabulary development at 18 and 24 months. Children with SCTs showed significantly poorer linguistic skills at 18 months in both preverbal (babbling and gestures) and verbal abilities. A high percentage (nearly 70%) of toddlers with SCTs were late-talking children at 24 months, and those toddlers showed a lower frequency of babbling utterances at 18 months. Early lexical skills, children's developmental quotient, and being part of the group of toddlers with SCTs were significant predictors of children's vocabulary size six months later. These variables should be considered when assessing the linguistic competence of a child with SCTs to detect possible early risk factors of future language impairment.
Asunto(s)
Trastornos del Desarrollo del Lenguaje , Trisomía , Femenino , Humanos , Desarrollo del Lenguaje , Cromosomas Sexuales , VocabularioRESUMEN
The concern about the offspring's health is one of the reasons for a reduced family size of women with rheumatic diseases (RD). Increased risk of autoimmune diseases (AD) and neurodevelopmental disorders (ND) has been reported in children born to patients with RD. Within a nationwide survey about reproductive issues of women with RD, we aimed at exploring the long-term outcome of their children. By surveying 398 patients who received their diagnosis of RD during childbearing age (before the age of 45), information about the offspring were obtained from 230 women who declared to have had children. A total of 148 (64.3%) patients were affected by connective tissue diseases (CTD) and 82 (35.7%) by chronic arthritis. Data on 299 children (156 males, 52.1%; mean age at the time of interview 17.1 ± 9.7 years) were collected. Twelve children (4.0%), who were born to patients with CTD in 75% of the cases, were affected by AD (8 cases of celiac disease). Eleven children had a certified diagnosis of ND (3.6%; 6 cases of learning disabilities); 9 of them were born to mothers with CTD (5 after maternal diagnosis). No association was found between ND and prenatal exposure to either maternal autoantibodies or anti-rheumatic drugs. Absolute numbers of offspring affected by AD and ND were low in a multicentre cohort of Italian women with RD. This information can be helpful for the counselling about reproductive issues, as the health outcomes of the offspring might not be an issue which discourage women with RD from having children.