[Development of a Play Toolkit for Supporting Infant and Toddler Development in Kyrgyzstan with a Focus on the Symbolic Functioning and Fine Motor Development of Infants 6 to 36 Months Old]. / 키르기스스탄 ì˜ìœ ì•„ 성장발달을 위한 놀이도구 개발 및 사용효과 평가: 6~36개월 ì˜ìœ ì•„ì˜ ìƒì§•ì  기능 ì‚¬ê³ ì™€ 미세운동 발달 중심으로.

PURPOSE: The study aimed to develop a play toolkit to facilitate infants' and toddlers' symbolic thought and fine motor development. METHODS: This study used a methodological study design including two phases of development and evaluation. After reviewing the play culture and developmental health issues in Kyrgyzstan through a literature review and interviews with local experts and parents, the toolkit was developed and evaluated using content validity and utilization tests. RESULTS: The toolkit was based on Westby's symbolic play and the fine motor milestones in the Bright Futures Guidelines. The Toolkits were composed of an overall suggested play schedule according to the child's age, four kinds of play props, and a utilization guidebook for parents. The play props were a felt book, sorting and assembling blocks, cup blocks, and a tangram. The guidebook contained age-appropriate operating methods and alternative ways to use the materials. CONCLUSION: A play toolkit was developed to enhance nurturing practices among parents of infants and toddlers. The findings may help facilitate effective interactions between parents and their children. Considering that nurturing care is critical for achieving better child health outcomes, enhancing parenting resources and parent-child relations could function as an effective strategy for promoting child health.

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene. Only 19 patients with mutation-confirmed SOFT syndrome have been reported to date, all of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report an 8.5-year-old boy with SOFT syndrome showing primordial dwarfism, no effect of growth-hormone therapy and skeletal dysplasia. This is the first report of compound heterozygous variants in POC1A, one previously reported and the other novel. A characteristic skeletal manifestation is reported.