Pediatricians` attitudes, practices, and perceived barriers to school readiness.

BACKGROUND: School readiness (SR) has been adopted by the American Academy of Pediatrics (AAP) as a component of health supervision, but the medical community`s role is unknown. We evaluated the pediatricians` attitudes, practices, and perceived barriers to SR. METHODS: This multicenter, cross-sectional descriptive study was performed among 787 general pediatricians, pediatric residents, subspecialists, and subspecialty fellows. A 41-item survey was administered. RESULTS: Forty-nine point two percent of the pediatricians defined SR as a multidimensional issue, as outlined by the AAP, whereas 50.8% defined it as the child`s set of skills or passing the SR tests. Three-quarters of pediatricians believed that SR assessment tests are necessary before starting school, and children who do not appear ready should wait a year. To promote SR, the rates of usually fostering at least four of the five `Rs` (reading, rhyming, routines, rewarding, relationships) and integrating developmental surveillance into daily practice were 37.8% and 23.8%, respectively. Only 2.2% of pediatricians usually inquired about eight adverse childhood experiences (ACEs), and 68.9% did not usually ask about any. Usually fostering at least four of the five `Rs` was associated with usually integrating developmental surveillance (p < 0.001), usually inquiring about each ACE (p < 0.001), and being perceived as responsible for promoting SR (p < 0.01). Training on SR during pediatric residency was 2.7%. Time constraints and insufficient knowledge were the most common barriers. CONCLUSIONS: Pediatricians were not familiar with the concept of SR and had some misconceptions. There is a need for additional training regarding pediatricians` roles in promoting SR along with addressing multiple, modifiable barriers within the health system. < strong > Supplementary: < a href="https://www.turkishjournalpediatrics.org/uploads/2573-supplementary.pdf" target=`_blank` > Supplementary Appendix < /a > < /strong >.

Defect-induced B4C electrodes for high energy density supercapacitor devices.

Boron carbide powders were synthesized by mechanically activated annealing process using anhydrous boron oxide (B2O3) and varying carbon (C) sources such as graphite and activated carbon: The precursors were mechanically activated for different times in a high energy ball mill and reacted in an induction furnace. According to the Raman analyses of the carbon sources, the I(D)/I(G) ratio increased from ~ 0.25 to ~ 0.99, as the carbon material changed from graphite to active carbon, indicating the highly defected and disordered structure of active carbon. Complementary advanced EPR analysis of defect centers in B4C revealed that the intrinsic defects play a major role in the electrochemical performance of the supercapacitor device once they have an electrode component made of bare B4C. Depending on the starting material and synthesis conditions the conductivity, energy, and power density, as well as capacity, can be controlled hence high-performance supercapacitor devices can be produced.

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

The etiology of intellectual disability (ID) is heterogeneous including a variety of genetic and environmental causes. Historically, most research has not focused on autosomal recessive ID (ARID), which is a significant cause of ID, particularly in areas where parental consanguinity is common. Identification of genetic causes allows for precision diagnosis and improved genetic counseling. We performed whole exome sequencing to 21 Turkish families, seven multiplex and 14 simplex, with nonsyndromic ID. Based on the presence of multiple affected siblings born to unaffected parents and/or shared ancestry, we consider all families as ARID. We revealed the underlying causative variants in seven families in MCPH1 (c.427dupA, p.T143Nfs*5), WDR62 (c.3406C>T, p.R1136*), ASPM (c.5219_5225delGAGGATA, p.R1740Tfs*7), RARS (c.1588A>G, p.T530A), CC2D1A (c.811delG, p.A271Pfs*30), TUSC3 (c.793C>T, p.Q265*) and ZNF335 (c.808C>T, p.R270C and c.3715C>A, p.Q1239K) previously linked with ARID. Besides ARID genes, in one family, affected male siblings were hemizygous for PQBP1 (c.459_462delAGAG, p.R153Sfs*41) and in one family the proband was female and heterozygous for X-chromosomal SLC9A6 (c.1631+1G>A) variant. Each of these variants, except for those in MCPH1 and PQBP1, have not been previously published. Additionally in one family, two affected children were homozygous for the c.377G>A (p.W126*) variant in the FAM183A, a gene not previously associated with ARID. No causative variants were found in the remaining 11 families. A wide variety of variants explain half of families with ARID. FAM183A is a promising novel candidate gene for ARID.