The role of well-child visits in detecting developmental delay in preschool children

Background: Early detection of developmental delay (DD) in preschool children is crucial for counselling parents, initiating diagnostic work-up, and starting early intervention (EI). Methods: We conducted a register study of all preschool children referred for EI in the Canton of Zurich, Switzerland, in 2017 (N = 1,785) and used an online survey among primary care physicians (PCPs, N = 271) to evaluate the care service of DD children. Results: PCPs accounted for 79.5% of all referrals by physicians and had correctly referred over 90% of the children in need of EI at an average age of 39.3 months (SD 8.9). In the survey, which represents 59.2% of all pediatricians and 11.3% of all general practitioners in the Canton, PCPs reported performing a mean of 13.5 (range 0-50, SD 10.7) well-child visits per week to preschool children and estimated well-child visits to be the most frequent type of consultation (66.7%) for the identification of DD. Parents' hesitancy in accepting further evaluation or support were reported by 88.7%. Conclusions: Most preschool children with DD are identified in well-child visits. These visits represent an ideal opportunity for early detection of developmental impairment and initiation of EI. Carefully addressing parents' reservations could reduce the rate of refusal, thus improving early support for children with DD

Nuclear receptors in vascular biology

Nuclear receptors sense a wide range of steroids and hormones (estrogens, progesterone, androgens, glucocorticoid, and mineralocorticoid), vitamins (A and D), lipid metabolites, carbohydrates, and xenobiotics. In response to these diverse but critically important mediators, nuclear receptors regulate the homeostatic control of lipids, carbohydrate, cholesterol, and xenobiotic drug metabolism, inflammation, cell differentiation and development, including vascular development. The nuclear receptor family is one of the most important groups of signaling molecules in the body and as such represent some of the most important established and emerging clinical and therapeutic targets. This review will highlight some of the recent trends in nuclear receptor biology related to vascular biology

Nicotine and apoptosis.

Cigarette smoking is associated with a plethora of different diseases. Nicotine is the addictive component of cigarette but also acts onto cells of the non-neuronal system, including immune effector cells. Although nicotine itself is usually not referred to as a carcinogen, there is ongoing debate whether nicotine functions as a 'tumor enhancer.' By binding to nicotinic acetylcholine receptors, nicotine deregulates essential biological processes like angiogenesis, apoptosis, and cell-mediated immunity. Apoptosis plays critical roles in a wide variety of physiologic processes during fetal development and in adult tissue and is also a fundamental aspect of the biology of malignant diseases. This review provides an overlook how nicotine influences apoptotic processes and is thus directly involved in the etiology of pathological conditions like cancer and obstructive diseases

Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance

Two families and three sporadic cases have been described so far with the combination of radio-ulnar synostosis and microcephaly as main features. Some authors have discussed whether the first family reported by Giuffrè et al. [1994] and the second family described by Tsukahara et al. [1995] had the same syndrome. Although there is phenotypic variability among the described cases (especially with respect to facial dysmorphisms and mental retardation), the clinical patterns do not seem to be clearly distinguishable from each other. We describe another family with apparent X-linked semi-dominant inheritance with milder features in the female patient due to skewed X-inactivation. From a clinical synopsis, we consider the Giuffrè-Tsukahara syndrome as one genetic entity, which is characterized by the association of microcephaly and radio-ulnar synostosis, mental retardation in male patients and variable minor features. Patients with the Giuffrè-Tsukahara syndrome do not present with a characteristic pattern of facial features

Diagnostics and treatment of ADHD in Switzerland : a physician perspective on practice and challenges: Julia Dratva

Background: Attention deficit/hyperactivity disorder (ADHD) is a major public health problem with numerous negative outcomes for the affected individuals and with a high burden to families and society. Although a multimodal therapeutic approach (i.e., pharmacological treatment as well as non-pharmaceutical treatment options) is considered the gold standard, the observed increasing methylphenidate (MPH) treatment could correspond to a reduced use of other treatments options. This study therefore aims to providing insights into the actual practice of paediatricians as well as perceived challenges during the diagnosis and treatment. Methods: An online survey on diagnostic and therapy procedures, personal attitudes, and perceived challenges regarding ADHD was sent to the members of the Swiss Society for Paediatrics. With 151 questionnaires that were analyzed, response rate was low (9.3%). Results: Pediatricians reported the exchange with parents and children as well as the suffering of the children to be central when selecting a therapy. On average, they arrange three meetings with parents, of which two take place with the concerned child. They also report including information from several sources before arriving at a diagnosis. Pharmacological therapy was most frequent, followed by psychotherapy, and occupational therapy. Challenges mentioned were: the subjective character of the diagnosis and frequent co-morbidities, limited resources for case management, limited availability of child and youth psychiatry and psychotherapy, and unfavorable public attitudes toward medication. Conclusions: Pediatricians do consider a multimodal approach when treating ADHD and show a high involvement of family and child in the choice of therapy. However, they highlight the potential of improving the cooperation with other specialists, such as teachers and school social workers, and of improving the availability of psychotherapy and information on ADHD

Entwicklungsstörungen im Vorschulalter: interdisziplinär beurteilt

Many children show developmental abnormalities in the first years of life. Thus, the primary care physician should know the procedures of developmental surveillance and screening and be informed about the further steps in the evaluation of children with developmental disorders. This article presents current developmental screening methods in primary care, defines the terminology of developmental disorders in young children, demonstrates the essential diagnostic procedures in developmentally impaired children and describes the interdisciplinary collaboration between physicians, psychologists, therapists and special needs educators