Weekend-Based Parent-Group Intervention to Reduce Stress in Parents of Children and Adolescents with Type 1 Diabetes: A Pilot Study

Diagnosis of type 1 diabetes (T1D) in a child is often associated with anger, denial, fear, and depression from the parents. The aim of the study was to improve parents' adaptation to the diagnosis of diabetes of their child. Sixty-two parents (29 mothers, 33 fathers) of 36 children with type 1 diabetes (mean age=11.3-3.3 years; diabetes duration>1 year; HbA1c=57 +/- 11 mmol/mol) participated in a three-day educational working group pilot intervention study. Intervention was based on the reexamination of the traumatic event of diagnosis of T1D through spatial and time-line anchorage, retracing of the future, emotional awareness, and interactive discussion. Relaxing technique, diaphragmatic breathing, and guided visualization were used by 2 psychologists and 1 pediatric endocrinologist. The study was approved by EC and participants filled a consent form. At baseline and after intervention, parents filled in a questionnaire including Diabetes-Related Distress (DRD), Parent Health Locus of Control Scale (PHLOC), Parent Stress Index Short Form (PSI-SF), Hypoglycemia Fear Survey-Parents (HFS-P) and Hypoglycemia Fear Survey-Parents of Young Children (HFS-P-YC), and Health Survey Short Form-36 (SF-36). Three months after the intervention, both parents reported a reduction in the "difficult child" subscale of the PSI-SF (p<0.05) and increased scores of social functioning of the SF-36 (p<0.05). DRD score was significantly reduced in mothers (p=0.03), while the "parental distress" subscale of the PSI-SF was significantly improved in fathers (p=0.03). This weekend-based parent group intervention seems to reduce stress and improve social functioning of parents of children and adolescents with type 1 diabetes

Peripheral Precocious Puberty due to Functioning Adrenocortical Tumor: Description of Two Cases

BACKGROUND: Adrenocortical tumors (ACTs) represent less than 0.2% of all childhood neoplasms. Frequent clinical manifestations are virilization, hypercortisolism, and peripheral precocious puberty (PPP). CASES: We describe two cases in which ACTs were responsible for virilization (case 1) and PPP (case 2) in prepubertal girls. In both cases an ACT diagnosis was made after 5-6 months from the first appearance of clinical signs. Surgery was performed within 1 month of diagnosis, and the benign nature of tumors was histologically confirmed. Despite complete tumor resection, virilizing features persisted. SUMMARY AND CONCLUSIONS: Adrenocortical tumors should be considered early in the assessment of PPP. There is often a significant delay between the onset of symptoms and accurate diagnosis but early treatment is essential to limit the clinical manifestations of androgen overproduction

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Background. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, AIRE, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tolerance to organ-specific antigens and autoimmune reactions towards peripheral tissues caused by the underlying molecular defect. Thus, early recognition of the syndrome is often delayed, mostly in cases with atypical presentation, and the molecular confirm through the genetic analysis of the AIRE gene might be of great benefit. Methods. Our methods were to investigate, with a multigene panel next generation sequencing approach, two clinical cases, both presenting with idiopathic hypoparathyroidism, also comprising the AIRE gene; as well as to comment our findings as part of a more extensive review of literature data. Results. In the first clinical case, two compound heterozygote pathogenic variants of the AIRE gene were identified, thus indicating an autosomal recessive inheritance of the disease. In the second case, only one AIRE gene variant was found and an atypical dominant negative form of APS-1 suggested, later confirmed by further medical ascertainments. Conclusions. APS-1 might present with variable and sometimes monosymptomatic presentations and, if not recognized, might associate with severe complications. In this context, next generation diagnostics focused on a set of genes causative of partially overlapping disorders may allow early diagnosis

Disordered eating behaviors in adolescents with type 1 diabetes: A cross-sectional population-based study in Italy

OBJECTIVE: To evaluate the association of clinical, metabolic and socioeconomic factors with disordered eating behaviors (DEB) among adolescents with type 1 diabetes screened using the Diabetes Eating Problem Survey-Revised (DEPS-R). METHODS: A cross-sectional, population-based study involved 163 adolescents with type 1 diabetes, aged 11-20 years, recruited from the registry for type 1 diabetes of Marche Region, Italy, who completed the DEPS-R (response rate 74.4%). Clinical characteristics, lipid profile, HbA1c , family profile of education and occupation were evaluated. The Italian version of DEPS-R was validated, and the prevalence of DEB estimated. The association of demographic, socioeconomic, and clinical factors with DEB was evaluated by multiple correspondence analysis and multiple logistic regression. RESULTS: The prevalence of DEPS-R-positive (score ≥20) was 27% (95% CI 17-38) in boys and 42% (95% CI 31-53) in girls. A clinical profile of DEPS-R-positive was identified: overweight, little time spent in physical activity, low socioeconomic status, poor metabolic control, skipping insulin injections. Furthermore, the probability of DEPS-R-positive increased 63% for every added unit of HbA1c , 36% for every added number of insulin injections skipped in a week and decreased about 20% for every added hour/week spent in physical activity. Overweight youth were six times more likely to be DEPS-R-positive. DISCUSSION: A specific clinical profile of DEPS-R-positive was identified. A multidisciplinary clinical approach aimed to normalize eating behaviors and enhance self-esteem should be used to prevent the onset of these behaviors, and continuous educational programs are needed to promote healthy behaviors and lifestyles

BODY EMOTIONAL MAP: STRUMENTO INNOVATIVO ED UTILE PER MIGLIORARE L\u2019ADATTAMENTO DEI GENITORI ALLA DIAGNOSI DI DIABETE DI TIPO 1 DEL LORO BAMBINO

OBIETTIVI La comunicazione della diagnosi di diabete di tipo 1 (DM1) in un bambino rappresenta un evento traumatico per i genitori. Il raggiungimento di un buon adattamento alla malattia del proprio figlio, per poter mantenere una buona qualit\ue0 della vita, \ue8 uno degli obiettivi dell\u2019educazione terapeutica. Scopo di questo studio longitudinale \ue8 stato quello di dimostrare l\u2019efficacia del nuovo metodo Body Emotional Map (BEM) per aiutare i genitori a superare il trauma della diagnosi di DM1 e per ottenere il miglior adattamento alla malattia. METODI Nello studio sono stati reclutati 62 genitori (29 madri, 33 padri) di 36 bambini con DM1 (11.3\ub13.3 anni; durata DM1 >1 anno; HbA1c=57\ub111 mmol/mol) che hanno partecipato ad intervento di gruppo della durata di tre giorni. Il riesame dell\u2019evento traumatico della diagnosi di DM1 \ue8 stato eseguito attraverso il percorso BEM caratterizzato da attivit\ue0 di ancoraggio spaziale e temporale, ripresa del futuro, consapevolezza emotiva e discussione interattiva. La tecnica rilassante, la respirazione diaframmatica e la visualizzazione guidata sono stati utilizzati da 1 psicologo, 1 counselor e 1 diabetologo pediatra. I questionari autosomministrati [Diabetes Related Distress (DRD), Parent Stress Index Short Form scale (PSI-SF), Fear of Hypoglycemia Survey (FHS), Parent Health Locus of Control Scale (PHLOC), e Health Survey Short Form-36 (SF-36)] sono stati compilati dai genitori al baseline, 1 mese (M1) e 3 mesi (M3) dopo l\u2019intervento BEM. RISULTATI Rispetto al baseline, al tempo M3 abbiamo dimostrato una riduzione statisticamente significativa dei punteggi dell\u2019item \u201cbambino difficile\u201d nel questionario PSI-SF (p<0.05) in entrambi i genitori, del DRD nelle madri (59.0\ub12.6 vs. 52.4\ub12.7, p=0.03) e dell\u2019item \u201cdistress parentale\u201d nel questionario PSI-SF nei padri (24.9\ub11.5 vs. 21.8\ub11.5, p=0.04). Inoltre, il punteggio dell\u2019item \u201cfunzionamento sociale\u201d nel questionario SF-36 \ue8 migliorato in modo statisticamente significativo nei padri al tempo M1 (81.3\ub13.2 vs. 88.3\ub13.2, p=0.03). CONCLUSIONI Nel DM1 dobbiamo sempre tenere in considerazione la reazione emotiva che si verifica allorquando viene comunicata la diagnosi, sia nei bambini che nei genitori. Il percorso BEM sembra essere uno strumento innovativo ed utile per ridurre lo stress e migliorare il funzionamento sociale dei genitori di bambini e adolescenti con DM1

Body emotional map: an innovative and useful tool to improve parents´ adaptation to the diagnosis of type 1 diabetes of their child

Objectives: The diagnosis of type 1 diabetes mellitus (T1DM) in a child is a traumatic event for parents. The path of a good adaptation to the child´s disease is a purpose of the therapeutic education to attain and keep a good quality of life. Aim of this study was to demonstrate the effectiveness of the new tool Body Emotional Map (BEM) in helping parents to overcome the trauma of T1DM diagnosis and to achieve the best adaptation. Methods: Sixty-two parents (29 mothers, 33 fathers) of 36 children with T1DM (age = 11.3 3.3 yrs; T1DM duration >1 yr; HbA1c = 57 11 mmol/mol) were recruited in a 3-days educational group intervention study. The re-examine of the traumatic event of the T1DM diagnosis through the BEM path included spatial and time-line anchorage, retrace of the future, emotional awareness, interactive discussion. Relaxing technique, diaphragmatic breathing, and guided visualization were used by 1 psychologist, 1 counselor and 1 pediatric diabetologist. Self-report questionnaires [Diabetes Related Distress (DRD), Parent Stress Index Short Form scale (PSI-SF), Fear of Hypoglycemia Survey (FHS), Parent Health Locus of Control Scale (PHLOC), and Health Survey Short Form-36 (SF-36)] were filled by parents at baseline, 1 month (M1), and 3 months (M3) after the intervention. Results: Respect to baseline, at time M3 we found a significant score reduction of the “difficult child” subscale of the PSI-SF in both parents (p < 0.05), of the DRD in mothers (59.0 2.6 vs. 52.4 2.7, p = 0.03), and of the “parental distress” subscale of the PSI-SF in fathers (24.9 1.5 vs. 21.8 1.5, p = 0.04) . Moreover, the social functioning score of the SF-36 was significantly improved in fathers at time M1 (81.3 3.2 vs. 88.3 3.2, p = 0.03). Conclusions: In T1DM we must always to consider the emotional reaction occurring when the diagnosis is given both in children and parents. BEM path seems to reduce stress and to improve social functioning of parents of children and adolescents with T1DM

Recommendations for the use of sensor-augmented pumps with predictive low-glucose suspend features in children: The importance of education

Sensor-augmented pumps, which consist of a pump and a continuous glucose monitoring system, offer considerable therapeutic opportunities, despite requiring close attention in the early phase of their use. The aim of this paper is to provide recommendations on the use of a predictive low glucose management (PLGM) system (Minimed 640G\u2122, Medtronic, Northridge, CA, USA) in adolescents with type 1 diabetes either at the start of therapy or during follow-up. Sound clinical recommendations on PLGM are of increasing importance since several recent papers have reported significant clinical improvements in patients with PLGM, especially in adults. These recommendations are based on the experience of a group of pediatric endocrinologists who collaborated to closely and intensively study the on-boarding of adolescent patients with type 1 diabetes on automated systems to gain first-hand experience and peer-to-peer insights in a unique free-living environment. The suggestions provided here are indicative, so can be adapted to the individual realities and experiences of different diabetes centers. However, we believe that close adherence to the proposed scheme is likely to increase the chances of improving the clinical and metabolic outcomes of patients treated with this therapy