Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

Down syndrome (DS) is the most common chromosomal disorder worldwide. Along with intellectual disability, endocrine disorders represent a remarkable share of the morbidities experienced by children, adolescents and young adults with DS. Auxological parameters are plotted on syndrome-specific charts, as growth rates are reduced compared to healthy age- and gender-matched peers. Furthermore, children with DS are at increased risk for thyroid dysfunctions, diabetes mellitus, osteopenia and obesity compared to general population. Additionally, male individuals with DS often show infertility, while women tend to experience menopause at an overall younger age than healthy controls. Given the recent outstanding improvements in the care of severe DS-related comorbidities, infant mortality has dramatically decreased, with a current average life expectancy exceeding 60 years. Accordingly, the awareness of the specificities of DS in this field is pivotal to timely detect endocrine dysfunctions and to undertake a prompt dedicated treatment. Notably, best practices for the screening and monitoring of pediatric endocrine disorders in DS are still controversial. In addition, specific guidelines for the management of metabolic issues along the challenging period of transitioning from pediatric to adult health care are lacking. By performing a review of published literature, we highlighted the issues specifically involving children and adolescent with DS, aiming at providing clinicians with a detailed up-to-date overview of the endocrine, metabolic and auxological disorders in this selected population, with an additional focus on the management of patients in the critical phase of the transitioning from childhood to adult care.

Motor Skills and Executive Functions in Pediatric Patients with Down Syndrome: A Challenge for Tailoring Physical Activity Interventions.

Down syndrome (DS) is one of the most common chromosomal disorders. In addition to this variety of dysmorphic features. DS is also associated with a wide range of diseases and related comorbidities affecting different organs and systems. These comorbidities, together with societal and environmental influences, have a negative impact on physical activity in people with DS. Low levels of physical activity and energy expenditure have been identified as crucial players in worsening the acquisition of motor skills and executive functions. Executive functions are critical for the many skills (creativity, flexibility, self-control, and discipline) impacting our quality of life and make it possible to control impulses, mentally play with ideas, and stay focused. We proposed a broad overview of the available literature regarding motor skills and executive functions in pediatric patients with DS to understand the specific challenges for tailoring physical activity interventions. Motor skill interventions are effective in improving motor competence and performance on cognitive, emotional, and physical aspects in children with DS. Interventions based on executive functions in DS subjects are effective to contrast the cognitive decline and improve the everyday use of executive functions in youth and adults. Targeted interventions are mandatory for maximizing the benefits of physical activity, minimizing potential risks, and ultimately improving the overall health outcomes and quality of life for individuals with DS.

Thyroid Function Tests in Children and Adolescents With Trisomy 21: Definition of Syndrome-Specific Reference Ranges.

CONTEXT: The lack of syndrome-specific reference ranges for thyroid function tests (TFT) among pediatric patients with Down syndrome (DS) results in an overestimation of the occurrence of hypothyroidism in this population. OBJECTIVE: To (a) outline the age-dependent distribution of TFT among pediatric patients with DS; (b) describe the intraindividual variability of TFT over time; and (c) assess the role of elevated thyrotropin (TSH) in predicting the future onset of overt hypothyroidism. METHODS: In this retrospective, monocentric, observational analysis, we included 548 patients with DS (0-18 years) longitudinally assessed between 1992 and 2022. Exclusion criteria were abnormal thyroid anatomy, treatments affecting TFT, and positive thyroid autoantibodies. RESULTS: We determined the age-dependent distribution of TSH, FT3, and FT4 and outlined the relative nomograms for children with DS. Compared with non-syndromic patients, median TSH levels were statistically greater at any age (P < .001). Median FT3 and FT4 levels were statistically lower than controls (P < .001) only in specific age classes (0-11 for FT3, 11-18 years for FT4). TSH levels showed a remarkable fluctuation over time, with a poor (23%-53%) agreement between the TSH centile classes at 2 sequential assessments. Finally, the 75th centile was the threshold above which TSH values predicted future evolution into overt hypothyroidism with the best statistical accuracy, with a satisfactory negative predictive value (0.91), but poor positive predictive value (0.15). CONCLUSION: By longitudinally assessing TFT in a wide pediatric DS population, we outlined the syndrome-specific reference nomograms for TSH, FT3, and FT4 and demonstrated a persistent upward shift of TSH compared to non-syndromic children.

Herpes zoster in an immunocompetent boy following intrauterine exposure to varicella-zoster virus.

Herpes zoster (HZ) is caused by the varicella-zoster virus (VZV) and is considered to be a reactivation of latent infection. The first clinical manifestation of VZV infection during infancy typically presents as chickenpox; however, HZ can be observed in infants and children without a history of symptomatic varicella. We report the case of a 4-year-old immunocompetent boy who developed HZ after intrauterine exposure to VZV.

Necrobiosis lipoidica diabeticorum.

Necrobiosis lipoidica is a rare disorder that usually appears in the lower extremities and it is often related to diabetes mellitus. There are few reported cases of necrobiosis lipoidica in children. We present an interesting case in that the patient developed lesions on the abdomen, which is an unusual location.

Lowering postprandial glycemia in children with type 1 diabetes after Italian pizza "margherita" (TyBoDi2 Study).

BACKGROUND: Continuous subcutaneous insulin infusion is considered a safe and effective way to administer insulin in pediatric patients with type 1 diabetes, but achieving satisfactory and stable glycemic control is difficult. Several factors contribute to control, including fine-tuning the basal infusion rate and bolus type and timing. We evaluated the most effective type and timing of a pump-delivered, preprandial bolus in children with type 1 diabetes for a pizza "margherita" meal. SUBJECTS AND METHODS: We assessed the response of 38 children with type 1 diabetes to a meal based on pizza "margherita" (with mozzarella cheese and tomato sauce) after different types and timings of a bolus dose. RESULTS: The glucose levels for 6 h after the meal were lower (i.e., closer to the therapeutic target of <140 mg/dL) when the bolus doses were administered as a simple bolus 15 min before the meal (area under the curve [AUC] 0-6 h, 6.9 ± 14.9 mg/dL/min) versus a simple bolus administered immediately before the meal (AUC 0-6 h, 4.2 ± 25.9 mg/dL/min) (P = not significant) versus a double-wave bolus 30/70 extended over a 6-h period administered 15 min before the meal (AUC 0-6 h, 1.9 ± 21.3 mg/dL/min) (P = not significant) versus a double-wave bolus 30/70 extended over a 6-h period administered immediately before the meal (AUC 0-6 h, 13.3 ± 15.6 mg/dL/min) (P = 0.01). CONCLUSIONS: In the case of a pizza "margherita," our data support the injection of the simple bolus 15 min before a meal, rather than immediately before or delivered as a double-wave bolus, to control the glycemic rise usually observed.