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1.
Children (Basel) ; 10(2)2023 Jan 30.
Article in English | MEDLINE | ID: mdl-36832380

ABSTRACT

The aim of this study was to evaluate the interaction between gastrointestinal (GI) disorders, sleep problems, and challenging behaviors in children with a diagnosis of Autism Spectrum Disorder (ASD) and their effect on parental stress. The secondary objective was to assess the frequency and type of GI and feeding disorders in a sample of children with ASD through a multidisciplinary assessment and, finally, to investigate families' perceptions and satisfaction with the proposed multidisciplinary approach. All children underwent a comprehensive gastroenterological and neuropsychiatric evaluation supported by standardized questionnaires. Pediatric gastroenterologists, specifically trained in Applied Behavior Analysis (ABA), provided advice for parent-delivered behavioral intervention for food selectivity. Thirty-six children with an autism diagnosis (29 males, age 4.5 +/-2.2 years, mean +/- SD) were enrolled. A positive correlation between sleep problems and aggressive behavior was found, and this association was stronger in children experiencing more problematic mealtime behaviors (b = 0.788, p = 0.014). Sleep difficulties were associated with stereotyped behaviors and parent-perceived stress. Parents interviewed about the gastroenterology visit perceived this multidisciplinary approach as helpful in addressing food selectivity. This study shows that sleep and mealtime issues can have a synergistic negative impact on ASD symptoms. A multidisciplinary approach and an integrated assessment of GI, feeding problems, and sleep disorders could be helpful in diagnosing comorbidities and to provide targeted advice to parents.

2.
Children (Basel) ; 8(10)2021 Oct 16.
Article in English | MEDLINE | ID: mdl-34682189

ABSTRACT

Although the effectiveness of probiotics has only been proven in specific conditions, their use in children is massively widespread because of their perception as harmless products. Recent evidence raises concerns about probiotics' safety, especially but not only in the paediatric population due to severe opportunistic infections after their use. This review aimed at summarising available case reports on invasive infections related to probiotics' use in children. For this purpose, we assessed three electronic databases to identify papers describing paediatric patients with documented probiotic-derived invasive infections, with no language restrictions. A total of 49 case reports from 1995 to June 2021 were identified. The infections were caused by Lactobacillus spp. (35%), Saccharomyces spp. (29%), Bifidobacterium spp. (31%), Bacillus clausii (4%), and Escherichia coli (2%). Most (80%) patients were younger than 2 years old and sepsis was the most observed condition (69.4%). All the patients except one had at least one condition facilitating the development of invasive infection, with prematurity (55%) and intravenous catheter use (51%) being the most frequent. Three (6%) children died. Given the large use of probiotics, further studies aiming at evaluating the real incidence of probiotic-associated systemic infections are warranted.

3.
Front Pediatr ; 9: 703613, 2021.
Article in English | MEDLINE | ID: mdl-34485194

ABSTRACT

RASopathies and mTORopathies are groups of genetic syndromes associated with increased activation of the RAS-MAPK or the PI3K-AKT-mTOR pathway, resulting in altered cell proliferation during embryonic and postnatal development. The RAS-MAPK and the PI3K-AKT-mTOR pathways are connected to each other and play a crucial role in adaptive immunity. However, with the exception of Activated PI3K delta syndrome (APDS), immune function has not been deeply studied in these disorders. We collected clinical and immunophenotypic data of a cohort of patients with RASopathies and mTORopathies. Overall, we enrolled 47 patients (22 females, 25 males, age 2-40 years): 33 with neurofibromatosis type 1, 11 Noonan syndrome and 3 Bannayan-Riley-Ruvalcaba syndrome. 8 patients reported a history of invasive infections requiring hospitalization and intravenous antibiotic therapy. Only 3 patients reported a history of unusual, difficult-to-treat or deep-seated infection. Adenotonsillectomy was performed in 11 patients (24%). However, in most cases (83%) patients' parents did not perceive their child as more prone to infections than their peers. Lymphocyte subpopulations were analyzed in 37 of the 47 patients (16 female, 21 males, age 1-40 years). Among the studied lymphocyte subsets, the only consistent alteration regarded an increased percentage of immature B cells (recent bone marrow emigrants) in 34 out of 37 (91,9%) patients, and an increased percentage of double negative T cells in 9 patients. In conclusion, although borderline immune abnormalities were present in a significant proportion of subjects and adenotonsillectomy was performed more frequently than expected for the general population, no major immune disturbance was found in this cohort of patients.

5.
Front Immunol ; 12: 673068, 2021.
Article in English | MEDLINE | ID: mdl-34054855

ABSTRACT

Although the use of glucocorticoids (GC) is well established, the therapeutic response to these agents often shows important interindividual differences, in particular among young patients with inflammatory bowel diseases (IBD). Currently, GC resistance or dependence cannot be predicted by clinical or laboratory findings. The aim of this study was to investigate the association of gender and age with GC efficacy and with the expression of Glucocorticoid-Induced Leucine Zipper (GILZ). One hundred thirty patients (mean age at enrolment 12.6 years, 53 Crohn's disease, 70 males) were enrolled in this retrospective study. IBD patients with active disease despite prednisone at a daily dose of up to 2 mg/kg over a period of 4 weeks were defined as steroid resistant. Patients who initially responded but relapsed upon dose reduction were considered steroid-dependent. Total RNA was extracted from biopsies of 14 patients (9 males) and the levels of GILZ mRNA were evaluated by real-time PCR. Association between clinical response to prednisone and the considered demographic variables was evaluated using logistic regression models. After 4 weeks of treatment, 112 patients were responders to prednisone and 18 were resistant; at this time-point, resistant patients were older than responders (p=0.032). After 12 weeks, 42, 71 and 12 patients were sensitive, dependent and resistant respectively; at this time-point, females were more prone than males to develop prednisone dependence vs a good response (p=0.028) while age had no effect. Age was associated with response both at 4 and 12 weeks in the subgroups of females: resistant patients were older than sensitive ones at 4 weeks (p=0.02). Likewise, at 12 weeks of therapy, dependent patients resulted older than sensitive ones (p=0.05). No association of age with prednisone response was found in males. In a subgroup of 14 patients (5 females), GILZ mRNA expression in intestinal biopsies was higher in males (p=0.0031). Patients with unfavorable response (7) presented lower GILZ expression at disease onset in comparison to the responder group (p=0.017). Older females with IBD have a higher incidence of prednisone unfavorable response and reduced intestinal expression of the GC pharmacodynamic marker GILZ.


Subject(s)
Immunosuppressive Agents/therapeutic use , Inflammatory Bowel Diseases/drug therapy , Prednisone/therapeutic use , Sex Characteristics , Transcription Factors/metabolism , Adolescent , Age Factors , Child , Child, Preschool , Drug Resistance/physiology , Female , Humans , Infant , Inflammatory Bowel Diseases/metabolism , Male , Retrospective Studies , Young Adult
8.
J Adolesc Health ; 64(1): 137-138, 2019 01.
Article in English | MEDLINE | ID: mdl-30327278

ABSTRACT

Hereditary fructose intolerance is an autosomal recessive disorder of fructose metabolism caused by catalytic deficiency of aldolase B enzyme [1]. The disease is typically expressed when fructose- and sucrose-containing foods are first introduced in the diet; acute manifestations include nausea, vomiting, abdominal distress, and symptomatic hypoglycemia [1,2]. Chronic fructose ingestion eventually leads to poor feeding, growth retardation and gradual liver and/or renal failure [3,4]. Some patients may remain undiagnosed until adulthood because of a self-protective avoidance of sweet tasting food that prevents the development of acute toxicity from fructose containing food; however, these subjects may suffer intermittent symptoms throughout life, leading to potentially serious misdiagnosis [4]. We report the case of a patient with unrecognized hereditary fructose intolerance in which chronic gastrointestinal complaints, low body weight, and unexplained food avoidance were addressed as manifestations of an eating disorder during adolescence.


Subject(s)
Food Preferences , Fructose Intolerance/diagnosis , Adult , Diagnostic Errors , Feeding and Eating Disorders/diagnosis , Female , Food Preferences/psychology , Fructose Intolerance/genetics , Fructose Intolerance/psychology , Gastrointestinal Diseases/etiology , Humans
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