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4.
Eur J Pediatr ; 174(9): 1263-6, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25939413

RESUMEN

Homocystinuria due to cystathionine-ß-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Whereas neurodevelopment impairments have been often described in untreated homocystinuria adult patients, acute psychosis has rarely been reported as a presenting symptom of the disease. Here, we describe a 17-year-old girl affected by CBS deficiency presenting acute onset of visual hallucinations, behavioral perseverance, psychomotor hyperactivity, and affective inappropriateness. Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder. Psychotic symptoms were unresponsive to the conventional antipsychotic drugs and relieved after pyridoxine and folic acid treatment. CONCLUSION: A diagnosis of homocystinuria due to CBS deficiency should be considered in patients presenting, as target signs, ectopia lentis with or without learning difficulties, and should also be taken into account as a potentially treatable cause of acute psychosis in childhood and adolescence. WHAT IS KNOWN: • Homocystinuria frequently present with ectopia lentis, myopia, cognitive impairment, Marfan-like phenotype, osteoporosis, cerebrovascular, or cardiac thrombosis. • Acute psychosis has rarely been reported as a presenting symptom of the disease. WHAT IS NEW: • The complete psychotic symptoms' remission with pharmacological doses of pyridoxine and folic acid, without antipsychotic drugs.


Asunto(s)
Cistationina betasintasa/sangre , Homocistinuria/diagnóstico , Trastornos Psicóticos/etiología , Enfermedad Aguda , Adolescente , Cistationina betasintasa/deficiencia , Errores Diagnósticos , Femenino , Homocistinuria/sangre , Homocistinuria/complicaciones , Humanos , Trastornos Psicóticos/diagnóstico
5.
Front Oncol ; 14: 1400335, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38863642

RESUMEN

Schwannomas are benign, slow-growing tumors originating from the Schwann cells of nerve sheaths. Extracranial schwannomas are rare, particularly in pediatric populations. Here, we report the case of a hypoglossal schwannoma in a 15-year-old male who experienced tongue paresthesia and fasciculations and difficulty swallowing two years before hospital admission. Magnetic resonance imaging showed an oval mass with sharp and regular limits of approximately 45 × 29 × 25 mm in the cranial portion of the right carotid adipose space, caudal to the right carotid and lateral foramen. The patient underwent surgery, and a histological examination confirmed a schwannoma of the hypoglossal nerve. Six months after surgery, the patient was symptom-free. The literature on schwannomas of the hypoglossal nerve is scarce, with only a few previously reported cases in the adult population. Despite their rarity, schwannomas should be considered in the differential diagnosis of masses located in the neck that present with lingual and occasionally auditory symptoms, even in pediatric patients. Surgical resection is recommended and has a low risk of long-term recurrence.

6.
JAMA Netw Open ; 7(8): e2425829, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39102265

RESUMEN

Importance: There are suggestions that school pressure may be stressful and a factor in child and adolescent mental health disturbances, but data about this association are scarce and inconclusive. Objective: To assess whether varying degrees of school interruption were associated with changes in emergency department (ED) psychiatric visits of children and adolescents before and after the COVID-19 outbreak. Design, Setting, and Participants: A cross-sectional observational study was conducted at 9 urban university hospitals in Italy. All ED visits from January 1, 2018, to December 31, 2021, for psychiatric reasons of patients younger than 18 years were examined for demographic characteristics and type of psychopathologic factors. Data analysis was conducted from July 1 to August 31, 2023. Exposure: The disruption in the usual succession of school and holiday periods brought on by the COVID-19 pandemic at different times and with various degrees of intensity. Main Outcomes and Measures: Total number of pediatric ED visits, psychiatric ED visits, and psychiatric ED visits categorized by specific reasons (eg, psychomotor agitation, suicide ideation [SI] or suicide attempt [SA], and eating disorders) on a weekly basis. Results: A total of 13 014 psychiatric ED visits (1.3% of all pediatric ED visits) were recorded (63.2% females; mean [SD] age, 13.8 [3.8] years). The number of ED psychiatric visits increased over time (incidence rate ratio [IRR], 1.19; 95% CI, 1.16-1.22 for each year). Significant increases in ED visits were observed for eating disorders (294.8%), SI (297.8%), and SA (249.1%). School opening, but not social lockdown restriction, was associated with an increase in the number of ED psychiatric visits (IRR, 1.29; 95% CI, 1.23-1.34), which was evident for females and for SI with SA. Socioeconomic status was associated with an increase in psychiatric visits for males (IRR, 1.12; 95% CI, 1.04-1.20) but not females (IRR, 1.04; 95% CI, 0.98-1.10). Conclusions and Relevance: In this study, school opening was associated with an increased incidence of acute psychiatric emergencies among children and adolescents, suggesting that school can be a substantial source of stress with acute mental health implications.


Asunto(s)
COVID-19 , Servicio de Urgencia en Hospital , Instituciones Académicas , Humanos , COVID-19/epidemiología , COVID-19/psicología , Femenino , Masculino , Niño , Adolescente , Estudios Transversales , Italia/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Salud Mental/estadística & datos numéricos , Trastornos Mentales/epidemiología , SARS-CoV-2 , Pandemias , Ideación Suicida
7.
Front Pediatr ; 11: 1078274, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36762280

RESUMEN

Aim: We compared adolescents' visits to a tertiary-level paediatric emergency department (PED) in Italy during the pre-pandemic year and the first and second years of the COVID-19 pandemic, focusing on mental health presentations. Methods: This was a retrospective study. We collected the number of visits, the demographical features, triage codes, discharge diagnoses, and outcomes of adolescents 13-17 years old who accessed the PED from 1 March 2019 to 28 February 2022. Results: During the study period, 13,410 adolescents accessed the PED. The number of visits related to mental health problems was 304 (6.4%) in the second year of the pandemic and 306 (5.6%) in the pre-pandemic year, p = 0.07. In the same periods, females' prevalence was higher, 220 (72.4%) vs. 197 (64.4%), p = 0.03. The absolute number of subjects needing admission increased, 44 vs. 34, p = 0.21, and more urgent psychiatric consultations were needed, 161 vs. 114, p < 0.0001. The number of suicide attempts was 23 vs. 8, +188%, p = 0.01. The number of adolescents with eating disorders was 21 vs. 5, +320%, p = 0.001. Conclusion: PED visits for suicide attempts and eating disorders in adolescents sharply increased in the second year of the pandemic.

8.
Front Pharmacol ; 13: 837692, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35496268

RESUMEN

Background: The acquisition of proper and relevant pediatric clinical data is essential to ensure tolerable and effective pediatric drug therapies. In the field of pharmacological treatment of neuropsychiatric disorders, the lack of sufficient high quality scientific evidence for pediatric age results in the frequent need to prescribe off-label drugs. With the aim of improving knowledge about safety profile of off-label drug prescription in children and adolescent with neurological and/or psychiatric disorders, we realized a multidisciplinary pharmacovigilance study. Materials and methods: An observational retrospective study was conducted to assess the safety of off-label pharmacological therapies in patients aged 0-18 years, admitted to the Neuropsychiatry Unit of the Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" between January 2016 and December 2018. Prescription patterns and adverse drug reactions were evaluated by a multidisciplinary team. Results: Overall, 230 patients were enrolled, 48% boys (N = 111), 52% girls (N = 119), average age of 10 years, and a total of 534 prescriptions was analyzed. 54.5% (N = 125) of patients had epilepsy, 37.5% (N = 86) suffered from psychiatric disorders, 8% (N = 19) had other neurological disorders. The prevalence of off-label prescriptions was 32% and 50% of the study population received at least one off-label drug. A total of 106 ADRs was detected: 57% of ADRs were due to drug-drug interactions, 30% were due to off-label prescriptions, 10% were due to overdose and 3% were due to improper use. No significant association between emerged ADRs and off label prescriptions was found (Fisher's exact two-tailed test, p = 1.000). There was significant association between increasing number of administrated drugs and risk of ADRs (OR 1.99; IC95% 1.58-2.5; p = 0.000). Psychiatric disorders were associated with at least three times higher risk to be treated with an off-label drug (OR 3.30; IC95% 2.26-4.83; p = 0.000). Conclusions: This study shows that off-label prescribing in neuropsychiatric disorders does not pose a greater risk of ADRs than on-label prescribing and highlights unmet clinical needs in pediatric neuropsychopharmacology. The multidisciplinary approach can provide important contributions to improve therapeutic path of these already complex pathologies by careful monitoring of therapeutic appropriateness and drug interactions.

9.
Children (Basel) ; 9(6)2022 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-35740804

RESUMEN

Background. This study aimed to investigate the consequence of the COVID 19-related lockdown on the well-being of children with neurological and neurodevelopmental disorders and the repercussion on parental stress during the period 9 March 2020-3 May 2020. Methods. A web-based survey was shared via mail with the parents of children affected by chronic neurologic disorders and neurodevelopmental disorders in the continuity of care in two Italian tertiary centers, independently by the severity of the diseases and the required frequency of controls. For each patient, they were asked to identify a single main caregiver, among the two parents, to fill in the questionnaire. Parental stress was measured via the Perceived Stress Scale (PSS). Statistical analysis was performed with IBM SPSS Statistics version 25. The differences between the clinical groups were performed with one way ANOVA. The dimensional effect of the clinical variables on outcome was evaluated by multiple linear regression analysis. Results. The survey was completed by 250 parents (response rate = 48.9 %). Sars-Cov2 infection was reported in two patients only. A total of 44.2% of the patients had completely interrupted school activities while 70% of parents underwent changes in their job modalities. Health care services were disrupted in 77% of patients. Higher PSS scores were detected in the parents of children with neurodevelopmental disorders (p = 0.035). Conclusions. The loss of continuity of care during the lockdown must be considered as a risk factor for parents caring for children with chronic neurologic diseases and neurodevelopmental disorders in further phases of the current pandemic.

10.
Ital J Pediatr ; 48(1): 104, 2022 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-35725564

RESUMEN

To investigate the coping strategies of a group of adolescents with somatic symptom disorder compared to non-somatic symptom disorder peers during the COVID-19 related lockdown.This cross-sectional study is the second part of a previously published study showing an improved trend in depression and anxiety in a group of patients with somatic symptom disorder compared to non-somatic symptom disorder peers. An anonymous semi-structured survey was distributed to two groups of Italian adolescents to measure the impact of quarantine on their daily life and coping strategies.We recruited 115 adolescents, 58 (50.4%) mean age 15.3, with a recent diagnosis of somatic symptom disorder and 57 (49.6%) mean age 15.8, control peers.The aim of this study was to detect differences in coping strategies and relationships with parents and peers, during the lockdown period in a group of adolescents with somatic symptom disorder and low disease burden when compared with a non-somatic symptom disorder group.The relationship with parents significantly worsened in 4 (6.9%) of adolescents with somatic symptom disorder compared to 12 (21.1%) adolescents in the non-somatic symptom disorder group (p = 0.048). The relationship with peers significantly improved in 13 (22.4%) of adolescents with symptom disorder versus 3 (5.3%) of peers of the non- somatic symptom disorder group (p = 0.013).Adolescents with somatic symptom disorder with a low burden of physical symptoms experienced less deterioration in their relationships with parents and peers than the non-somatic symptom disorder group.


Asunto(s)
COVID-19 , Síntomas sin Explicación Médica , Adolescente , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Estudios Transversales , Humanos , Padres
11.
J Adolesc Health ; 67(5): 727-729, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32943287

RESUMEN

PURPOSE: The coronavirus lockdown in Italy ended, but the postlockdown phase may be even more challenging than the outbreak itself if the impact on mental health is considered. To date, little evidence is available about the effect of lockdown release in terms of adolescent health from the perspective of an emergency department (ED). METHODS: We reviewed data on ED arrivals of adolescents and young adults (aged 13-24 years) in the weeks immediately before and after the Italian lockdown release in 2020, and in the same periods in 2019, with a focus on cases of severe alcohol abuse, psychomotor agitation, and other mental issues. RESULTS: The relative frequency of severe alcohol intoxications increased from .88% during the last part of the lockdown to 11.3% after lockdown release. When comparing these data with the same period in 2019, a highly significant difference emerged, with severe alcohol intoxications accounting for 11.31% of ED visits versus 2.96%, respectively. The relative frequency of ED arrivals related to psychomotor agitation or other mental health issues was not significantly increased after lockdown release. CONCLUSIONS: This report suggests that emergency services should be prepared for a possible peak of alcohol intoxication-related emergencies in adolescents and young adults. The connection between alcohol abuse and mental health should not be overlooked.


Asunto(s)
Intoxicación Alcohólica/epidemiología , Infecciones por Coronavirus , Pandemias , Neumonía Viral , Aislamiento Social , Adolescente , COVID-19 , Servicio de Urgencia en Hospital , Política de Salud , Humanos , Italia/epidemiología , Salud Mental , Asunción de Riesgos , Adulto Joven
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