Summary
Recent studies report negative mental health effects of the COVID‐19 related lockdown measures in general paediatric cohorts. Since obesity is a risk factor for COVID‐19 in adults, children (including adolescents) with obesity might perceive themselves to be vulnerable. Using a combined quantitative and qualitative approach, we explored COVID‐19 related anxiety in paediatric patients with severe obesity in the Netherlands using semi‐structured telephone interviews and the Paediatric Quality of Life Inventory (PedsQL) questionnaire, which had also been completed by the study population at baseline in the year prior to the COVID‐19 outbreak. In total, 75 families participated in the semi‐structured telephone interviews during the lockdown, April 2020. Characteristics of included patients were: median age 10.5 years (interquartile range = 7.6‐15.2); 52% female; mean BMI standard deviation score 3.8 (SD = 1.0). COVID‐19 related anxiety was reported for 24/75 (32%) children. The mean decrease in PedsQL score between baseline visit and COVID‐19 outbreak did not differ between children for whom anxiety was reported vs those for whom it was not (mean change −10.3 ± 36.5 vs −3.3 ± 24.4, P = .54). Self‐imposed strict quarantine measures were taken by 19/75 (25%) families. During follow‐up, several families reported that the previous contact alleviated their anxiety. In conclusion, healthcare professionals should address possible COVID‐19 related anxiety in children with severe obesity. Addressing COVID‐19 related anxiety could mitigate its potential negative effects.
Objective
Leptin receptor (LepR) deficiency is an autosomal-recessive endocrine disorder causing early-onset severe obesity, hyperphagia and pituitary hormone deficiencies. As effective pharmacological treatment has recently been developed, diagnosing LepR deficiency is urgent. However, recognition is challenging and prevalence is unknown. We aim to elucidate the clinical spectrum and to estimate the prevalence of LepR deficiency in Europe.
Design
Comprehensive epidemiologic analysis and systematic literature review.
Methods
We curated a list of LEPR variants described in patients and elaborately evaluated their phenotypes. Subsequently, we extracted allele frequencies from the Genome Aggregation Database (gnomAD), consisting of sequencing data of 77 165 European individuals. We then calculated the number of individuals with biallelic disease-causing LEPR variants.
Results
Worldwide, 86 patients with LepR deficiency are published. We add two new patients, bringing the total of published patients to 88, of which 21 are European. All patients had early-onset obesity; 96% had hyperphagia; 34% had one or more pituitary hormone deficiencies. Our calculation results in 998 predicted patients in Europe, corresponding to a prevalence of 1.34 per 1 million people (95% CI: 0.95–1.72).
Conclusions
This study shows that LepR deficiency is more prevalent in Europe (n = 998 predicted patients) than currently known (n = 21 patients), suggesting that LepR deficiency is underdiagnosed. An important cause for this could be lack of access to genetic testing. Another possible explanation is insufficient recognition, as only one-third of patients has pituitary hormone deficiencies. With novel highly effective treatment emerging, diagnosing LepR deficiency is more important than ever.
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