Background: Type 1 diabetes mellitus is a generally accepted atherogenic risk factor. The aim of this prospective longitudinal study was to evaluate changes in carotid intima media thickness (cIMT) in children and adolescents with type 1 diabetes mellitus (T1DM) using standardized methods. Methods: We re-evaluated cIMT in 70 (38 f) of initial 150 (80 f) patients with T1DM after 4 years. At re-evaluation, mean (± SD) age was 16.45 ± 2.59 y, mean diabetes duration was 9.2 ± 3.24 y and patients had a mean HbA1c of 8.14 ± 1.06%. Results: Mean cIMT z-scores increased significantly during 4 years (0.58 ± 0.75, p < 0.001) as well as BMI-z-score (0.41 ± 0.81, p < 0.01), systolic blood pressure (0.77 ± 1.15, p < 0.01) and HbA1c (0.90 ± 1.07, < 0.001). In a linear regression model systolic blood pressure z-score at first measurement (0.02, CI: 0.01, 0.04) was a significant predictor for the mean effect on cIMT z-score. In a logistic regression model significant risk factors for an increase in IMT of ≥1.5 z-scores were BMI z-scores (OR: 3.02, CI:1.11, 10.14), diabetes duration (OR:1.32, CI:1.04, 1.77) and systolic blood pressure (OR: 1.14, CI: 1.04, 1.27) at first measurement each. Conclusions: Longitudinal cIMT measurements revealed progression in subclinical atherosclerosis during a four year period in diabetic children and adolescents. Systolic blood pressure and BMI were related to cIMT increment. Control of these risk factors by lifestyle and medical intervention may prevent progression of cIMT in diabetic children.

Background: The 22q13 deletion syndrome (Phelan–McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. Aims: To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome. Methods: We performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. Short-term (during the first 6 weeks) and long-term effects (after 12 months of treatment) on motor skills, cognitive functions, or autonomous functions, speech and communication, emotional state, social behaviour, behavioural disorders, independence in daily living and education were assessed. Results: The children showed marked short-term improvements in gross and fine motor activities, cognitive functions and educational level. Positive long-term effects were found for fine and gross motor activities, nonverbal communication, cognitive functions and autonomy. Possible side effects were found in one patient who displayed changes in balance, extreme sensitivity to touch and general loss of interest. One patient complained of intermittent nose bleeding. Conclusions: We conclude that long-term administration of intranasal insulin may benefit motor development, cognitive functions and spontaneous activity in children with 22q13 deletion syndrome.

Hyperphagia is a frequent symptom in patients with Prader-Willi syndrome (PWS) and results in marked obesity with the risk of metabolic and cardiovascular complications. To investigate whether early diagnosis of PWS and strict dietary intervention prevents excessive weight gain in patients with PWS. A strict fat reduced and modified carbohydrate diet consisting of 10 kcal/ cm height was provided to nine patients (seven female, two male) diagnosed early with PWS (group A). Patients were prospectively followed at our center with follow-up visits every three months. Eight patients with late diagnosis of PWS served as controls (group B). Body mass index (BMI) SDS and height SDS were compared between these two groups over a ten-year period. At the age of two years height SDS and BMI SDS were significantly lower in group A (-2.9 vs -1.2, p <0.05, and BMI SDS -0.1 vs +1.8, p < 0.05). After ten years BMI SDS increased significantly to +1.2 SDS in group A, but was still significantly lower than in group B (BMI SDS +2.4), p <0.005. Patients without restrictive diet were significantly taller than patients on the diet (height SDS group A -2.8 vs group B -1.3, p < 0.05). Early dietary treatment starting at the second year of life and continued until the age of ten years is effective in avoiding excessive weight gain in patients with PWS, but results in shorter stature. Therefore growth hormone may be a useful additional treatment in these patients.

Spondyloocular syndrome (SOS) is a rare autosomal recessive, skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs, including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PGs) leading to initiating the process of PG assembly. SOS was originally characterized in 2 families A and B of Iraqi and Turkish origin, respectively. Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene. In addition, this report has extended the phenotypic description of SOS by adding follow‐up data from 5 affected individuals in one of the two families, presented here.

A 15 year old girl with Prader-Willi Syndrome (PWS) died of gastric rupture. Systematic literature research revealed seven case reports of PWS patients with acute gastric dilatation, two had a lethal course. The objective of this study was to determine if delayed gastric emptying in PWS patients might contribute to gastric dilatation. Gastric emptying was measured in eight patients with PWS by nucleotid scintigraphy after a standardized test meal. Median age was 17.8 years (range 10.1-19.5). Median BMI of the male patients was 29.5 (range 18.4-34.8), of the female patients 28 (range 20.0-44.8). Half time of gastric emptying was delayed in five of the eight patients (median 78.5 minutes, range 59-134). Scintigraphic measurement of gastric emptying in eight PWS patients revealed delay in comparison to normal values. This might be a risk factor for gastric dilatation and rupture in patients with PWS.