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1.
Eur J Pediatr ; 183(2): 965-969, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37975942

RESUMEN

Receiving information in the case of a positive or false-positive expanded newborn screening (ENBS) result for metabolic diseases is a stressful event. The availability of psychological support to families is crucial across the different communication steps and is recommended by different guidelines and position papers. However, more information is needed about the availability of psychological resources in the ENBS process. This national survey aimed to provide an overview of the availability of psychological resources for parents who received communication of positivity at the ENBS in the 23 Italian centers and how the support is provided to parents. An online survey was sent to the Heads of the ENBS centers asking about the availability of a clinical psychologist, their involvement in the ENBS process, and an estimation of parents receiving psychological support. More than 60% of the centers report having a clinical psychologist in the ENBS team; however, in more than 50% of cases, the psychologist does not participate in the consultation with parents (nor for the first consultation post-positivity or at confirmation of diagnosis). Furthermore, nearly 60% of the centers reported the experience of parental rejection of psychological sessions.  Conclusion: There is a need for harmonization among the Italian ENBS centers concerning the availability of psychological resources and how these resources are provided to families. Parents' needs remained only partially fulfilled. What is Known: • Receiving communication of positivity at the ENBS can be highly stressful for parents and requires adequate psychological support. • The guidelines recommend psychological support for parents during the ENBS process. What is New: • Only 14/23 (60.9%) of Italian ENBS centers have a clinical psychologist within the team. • In half of the consultations with parents receiving communication of positivity, the clinical psychologist is never involved.


Asunto(s)
Enfermedades Metabólicas , Tamizaje Neonatal , Recién Nacido , Humanos , Tamizaje Neonatal/psicología , Enfermedades Metabólicas/diagnóstico , Padres/psicología , Comunicación , Italia
2.
Pharmacol Res ; 197: 106952, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37804926

RESUMEN

Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA). According to recent research, a broad spectrum of GBA disorders may be influenced by a perturbed Tryptophan (Trp) metabolism and are associated with alterations in composition or function of the gut microbiota. Furthermore, early-life diets may influence children's neurodevelopment and cognitive deficits in adulthood. In Phenylketonuria (PKU), since the main therapeutic intervention is based on a life-long restrictive diet, important alterations of gut microbiota have been observed. Studies on PKU highlight the impact of alterations of gut microbiota on the central nervous system (CNS), also investigating the involvement of metabolic pathways, such as Trp and kynurenine (KYN) metabolisms, involved in numerous neurodegenerative disorders. An alteration of Trp metabolism with an imbalance of the KYN pathway towards the production of neurotoxic metabolites implicated in numerous neurodegenerative and inflammatory diseases has been observed in PKU patients supplemented with Phe-free amino acid medical foods (AA-MF). The present review investigates the possible link between gut microbiota and the brain in IEMs, focusing on Trp metabolism in PKU. Considering the evidence collected, cognitive and behavioral well-being should always be monitored in routine IEMs clinical management. Further studies are required to evaluate the possible impact of Trp metabolism, through gut microbiota, on cognitive and behavioral functions in IEMs, to identify innovative dietetic strategies and improve quality of life and mental health of these patients.


Asunto(s)
Eje Cerebro-Intestino , Fenilcetonurias , Niño , Humanos , Triptófano , Calidad de Vida , Cognición
3.
Dev Psychopathol ; 35(1): 35-43, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-34210369

RESUMEN

The COVID-19 pandemic is a global traumatic experience for citizens, especially during sensitive time windows of heightened plasticity such as pregnancy and neonatal life. Pandemic-related stress experienced by mothers during pregnancy may act as an early risk factor for infants' regulatory capacity development by altering maternal psychosocial well-being (e.g., increased anxiety, reduced social support) and caregiving environment (e.g., greater parenting stress, impaired mother-infant bonding). The aim of the present longitudinal study was to assess the consequences of pandemic-related prenatal stress on infants' regulatory capacity. A sample of 163 mother-infant dyads was enrolled at eight maternity units in northern Italy. They provided complete data about prenatal stress, perceived social support, postnatal anxiety symptoms, parenting stress, mother-infant bonding, and infants' regulatory capacity at 3 months of age. Women who experienced emotional stress and received partial social support during pregnancy reported higher anxious symptoms. Moreover, maternal postnatal anxiety was indirectly linked to the infants' regulatory capacity at 3 months, mediated by parenting stress and mother-infant bonding. Dedicated preventive interventions should be delivered to mothers and should be focused on protecting the mother-infant dyad from the detrimental effects of pandemic-related stress during the COVID-19 healthcare emergency.


Asunto(s)
COVID-19 , Relaciones Madre-Hijo , Recién Nacido , Femenino , Lactante , Humanos , Embarazo , Estudios Longitudinales , Relaciones Madre-Hijo/psicología , Pandemias , COVID-19/epidemiología , Madres/psicología
4.
BMC Pediatr ; 18(1): 125, 2018 04 04.
Artículo en Inglés | MEDLINE | ID: mdl-29614986

RESUMEN

BACKGROUND: Iron deficiency anemia (IDA) and abdominal pain are commonly seen in a pediatric emergency department (8 and 18% incidence respectively in our center). They are manifestations of a wide variety of diseases ranging from benign to immediately life-threatening. Trichobezoar is an under-diagnosed entity that has to be considered in children and adolescents, expecially female, suffering from trichotillomania (compulsion to pull hair) and trichophagy (compulsion to swallow hair). When undiagnosed, gastric bezoars may cause gastric ulceration, perforation, haemorrhage and obstruction. CASE PRESENTATION: To underline the importance of including this pathology in the differential diagnosis of IDA and abdominal pain, we present the case of a 14 year-old girl with a huge trichobezoar which completely filled the stomach and extended into the small bowel. Since trichobezoar has an extension to the small bowel, it is classified as Rapunzel syndrome. As the bezoar couldn't be removed by endoscopy, the girl underwent surgical intervention. The patient passed through a gradual re-feeding, with iron and vitamins supplementation, and through a psychiatric counselling. CONCLUSION: The Rapunzel syndrome is a rare entity that may be complicated by life-threatening events. A prompt diagnosis and an appropriate therapy can reduce comorbidities. Gradual re-feeding with supplementation of micronutrients allows adequate catch-up weight with normalization of haematochemical nutritional parameters. Since many of these patients suffer from psychiatric pathology such as PICA with emotional problems and mental retardation, psychological/psychiatric counselling plays an important role in order to prevent bezoar recurrence.


Asunto(s)
Dolor Abdominal/etiología , Anemia Ferropénica/etiología , Bezoares/complicaciones , Pica/complicaciones , Tricotilomanía/complicaciones , Adolescente , Bezoares/diagnóstico por imagen , Bezoares/cirugía , Diagnóstico Diferencial , Duodeno/diagnóstico por imagen , Duodeno/cirugía , Servicio de Urgencia en Hospital , Femenino , Humanos , Estómago/diagnóstico por imagen , Estómago/cirugía , Síndrome , Tomografía Computarizada por Rayos X , Ultrasonografía
5.
J Int Med Res ; 50(9): 3000605221125524, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36146893

RESUMEN

OBJECTIVE: To assess some quality of life (QOL) aspects of a low protein diet, using glycomacropeptide (GMP) as a protein substitute in patients with phenylketonuria (PKU). METHODS: This was a multicentre, prospective observational cohort, study. Metabolic control, nutritional parameters, and dietary adherence were assessed in patients with PKU before (T0), and six months after (T6) starting a low protein diet using GMP. Selected items from the PKU-QOL questionnaire were used to assess patients' acceptance of their modified diet. RESULTS: 18 patients from three Italian Centres, completed the study. With the exception of LDL-cholesterol and vitamin 25OH-D concentrations, there were no differences between T0 and T6 in metabolic or nutritional parameters. Data suggested that patients have a good acceptance of protein substitutes containing GMP, probably because of their improved palatability. CONCLUSIONS: According to our patients' responses to items related to dietary regimen, GMP based protein substitutes do not appear to significantly affect QOL.


Asunto(s)
Fenilcetonurias , Calidad de Vida , Caseínas , Colesterol , Dieta con Restricción de Proteínas , Humanos , Fragmentos de Péptidos , Vitaminas
6.
Mol Genet Metab Rep ; 16: 39-45, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30069431

RESUMEN

Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 µmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (<4-5 times/day in 82% patients). In addition to the intrinsic characteristics of AA formula (palatability, ease of use), the most important factor influencing their consumption was the increased social pressure associated with their use (55%). Plasma phenylalanine periodical measurements (61%) and examinations at metabolic centers (49%) were considered relevant for compliance to diet. In Italian adult PKU patients dietary management was found to be inadequate, likely due to inappropriate perception and knowledge of the disease, and lack of awareness of the negative impact of poor metabolic control in adult life. Clinicians should consider implementing more intense and tailored educational measures, as well as structured transitional care processes.

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