Educational Activity Suggestion System of Children With Pervasive Developmental Disorder for Guiding Education and Training Staff Activities

Individuals with pervasive developmental disorders should be supported with special education programs that are planned according to the type and degree of the disorder, age, characteristics, and needs of the individual. Search over internet resources may provide suitable educational material and methods (and associated activity/game). However, syntactic search in today's static-based internet is insufficient to offer desired relevant results. An intelligent system able to identify the needed educational methods and material with the help of semantic web-based agents will not only contribute to the development of individuals with disorders, and support education specialists in this process, but also be extremely useful for the families of these individuals in assisting and monitoring their child's developmental progress. In this chapter, an agent-based educational activity suggestion system of children with pervasive developmental disorder for guiding education and training staff activities is proposed.

Phenotype from SAMD9 Mutation at 7p21.1 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1

Sterile α motif domain-containing protein 9 (SAMD9) is a regulatory protein centrally involved in cell proliferation and apoptosis. Mapped to 7p21.1, variants in SAMD9 have been reported in <50 pediatric cases worldwide, typically with early lethality. Germline gain-of-function SAMD9 variants are associated with MIRAGE syndrome (myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital anomalies, and enteropathy). Spalt like transcription factor 1 (SALL1) is a zinc finger transcriptional repressor located at 16q12.1 where only two transcript variants in SALL1 are known. RUNX2 (6p21.1) encodes a nuclear protein with a Runt DNA-binding domain critical for osteoblastic differentiation, skeletal morphogenesis, and serves as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. RUNX2 and SALL1 are thus both “master regulators” of tissue organization and embryo development. Here, we describe exome sequencing and copy number variants in two previously unknown mutations—R824Q in SAMD9, and Q253H in SALL1. A multiexon 3′ terminal duplication of RUNX2 not previously encountered is also reported. This is the first known phenotype assessment for an intersection of all three variants in a healthy 46,XX adult. Focusing on developmental progress, ultrastructural renal anatomy, and selected reproductive aspects, we describe this unique genotype diagnosed incidentally during coronavirus disease 2019 (COVID-19) illness. Individually, disruption in SAMD9, RUNX2, or SALL1 would be expected to give a bleak prognosis. However, this variant convergence appears to dampen severe pathology perhaps by cross-gene silencing of effects normally deleterious when such changes occur alone.

Feeding Difficulty Among Chinese Toddlers Aged 1–3 Years and Its Association With Health and Development

Feeding problems are biopsychosocial in nature and have a great influence on children's growth. The aim of this study was to profile the status and possible influencing factors of feeding difficulty among normal Chinese toddlers, and to investigate its association with health and development. This study is a part of the Young Investigation (YI study) conducted in 10 cities in China. Data from 924 children aged 1–3 years were analyzed. Data on socio-demographic factors, feeding behaviors, self-reported diseases, and anthropometry parameters were collected. Blood samples were drawn to determine hemoglobin levels. Feeding difficulty was evaluated by the Montreal Children's Hospital Feeding Scale (MCH-FS). Ages and Stages Questionnaires, Third Edition (ASQ-3) were used to assess developmental progress. Multivariable analyses were performed to explore the potential associations. The mean total score of the MCH-FS was 35.21 ± 12.90 and the highest scored item was “acting up/making a big fuss during mealtimes.” Feeding difficulty occurred more often among children with picky eating behavior or whose caregivers once used the strategy of pre-mastication. Children with feeding difficulty had lower intakes of cereals, vegetables, and fruits, and were more likely to suffer from diarrhea (OR, 2.04; 95%CI: 1.32, 3.11) or constipation (OR, 2.04; 95%CI: 1.27, 3.24), but not anemia. Feeding difficulty was also negatively associated with weight, height, head circumference and mid-upper-arm circumference-related Z-scores (P all &lt; 0.05). In addition, it was related to poorer fine motor skills, personal and social skills, and total scores of ASQ-3 (β, −9.00; 95%CI: −15.11, −2.89). Feeding difficulty assessed by MCH-FS showed a negative association with children's health and development, supporting the need for early identification.

Sustainable Development Model of EU Cities Compliant with UN Settings

Nowadays, the globally accepted UN concept of sustainable development (SD) is gradu®ally transferred to the city level, including small and medium-sized cities. The implementation of SD settings requires regular measurement of developmental progress to monitor the level achieved in statics and dynamics, and to make strategic decisions for the next period. The existing urban SD indicator systems and indices are not well-suited for the monitoring of specific cities. Benchmarking algorithms and mathematical modelling procedures were applied to create a methodology and mathematical model for measuring the achieved urban SD level and to ensure the most objective selection and proportions of key performance indicators (KPIs) to be included in the model. The model (1) complies with the UN concept, (2) is usable for any EU city, (3) reflects the level of quality of life achieved, and (4) includes a limited number of KPIs related to municipal functionality. Mathematical computation of the (1) causality between the KPIs, (2) selection and proportions of KPIs, and (3) the general level of urban SD, as well as the reasonable combination of universality, accuracy, stability, and simplicity are strong advantages of the model. Using the published mathematical expressions of the model, calculation of the SD level does not require specific skills; the performed stability test also confirms that annual calibration of the model is not necessary. The index will help municipalities in planning and managing SD, and in the rational use of their usually limited resources. As a pilot project, SD level values are calculated for several cities.

Music Therapy for Young Children Who Have Special Needs: the Music Therapy Experience from the Perspectives of Carers and Professionals

<p>This project aims to investigate how carers and other professionals perceive the music therapy process over time. Music therapy has been used to address a wide range of diagnoses and developmental issues of young children. The research was conducted during my clinical placement working with young children who have been referred to a child development team. The participants in this project were carers with children with special needs. The children were diagnosed with various disabilities and required different support and developmental goals. Each child attended individual music therapy sessions once a week over a period of three to nine months. It was speculated that many other changes or developmental progress could occur along with the goals and objectives set by me in the music therapy process. To understand fully what other changes or progress the children have made with the input of music therapy, the research was designed using open-ended interviews to find out what the carers and a professional witnessed during and in between the sessions. Three carers were involved in a one-on-one in-depth interview in which they were encouraged to talk about their observation and perception of music therapy. A speech-language therapist was also invited to participate in an in-depth interview. Data derived from the interviews was analysed using a thematic analysis approach. The findings compare themes generated from the clinical notes and interview data. The results showed some shared experiences amongst the participants as well as exceptions influenced by parental differences and the children's conditions. Examination of the similarities and differences between the clinical notes and the interview data helped me validate the outcome of music therapy intervention and gain more insights into effective practice.</p>

Music Therapy for Young Children Who Have Special Needs: the Music Therapy Experience from the Perspectives of Carers and Professionals

<p>This project aims to investigate how carers and other professionals perceive the music therapy process over time. Music therapy has been used to address a wide range of diagnoses and developmental issues of young children. The research was conducted during my clinical placement working with young children who have been referred to a child development team. The participants in this project were carers with children with special needs. The children were diagnosed with various disabilities and required different support and developmental goals. Each child attended individual music therapy sessions once a week over a period of three to nine months. It was speculated that many other changes or developmental progress could occur along with the goals and objectives set by me in the music therapy process. To understand fully what other changes or progress the children have made with the input of music therapy, the research was designed using open-ended interviews to find out what the carers and a professional witnessed during and in between the sessions. Three carers were involved in a one-on-one in-depth interview in which they were encouraged to talk about their observation and perception of music therapy. A speech-language therapist was also invited to participate in an in-depth interview. Data derived from the interviews was analysed using a thematic analysis approach. The findings compare themes generated from the clinical notes and interview data. The results showed some shared experiences amongst the participants as well as exceptions influenced by parental differences and the children's conditions. Examination of the similarities and differences between the clinical notes and the interview data helped me validate the outcome of music therapy intervention and gain more insights into effective practice.</p>

Phenotype from SAMD9 Mutation at 7p21.1 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1

Sterile alpha motif domain-containing protein 9 (SAMD9) is a regulatory protein centrally involved in cell proliferation and apoptosis. Mapped to 7p21.1, variants in SAMD9 have been reported in &amp;lt;50 pediatric cases worldwide, typically with early lethality. Germline gain-of-function SAMD9 variants are associated with MIRAGE Syndrome (myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital anomalies, and enteropathy). Spalt like transcription factor 1 (SALL1) is a zinc finger transcriptional repressor located at 16q12.1 where only two transcript variants in SALL1 are known. RUNX2 (6p21.1) encodes a nuclear protein with a Runt DNA-binding domain critical for osteoblastic differentiation, skeletal morphogenesis, and serves as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. RUNX2 and SALL1 are thus both &lsquo;master regulators&rsquo; of tissue organization and embryo development. Here, we describe exome sequencing and copy number variants in two previously unknown mutations&mdash;R824Q in SAMD9, and Q253H in SALL1. A new multiexon 3&rsquo; terminal duplication in RUNX2 is also reported. This is the first known phenotype characterization for the intersection of all three variants in a healthy 46,XX adult. Focusing on developmental progress, ultrastructural renal anatomy, and selected reproductive aspects, we describe this unique genotype diagnosed incidentally during Covid-19 illness. Individual disruption in SAMD9, RUNX2, or SALL1 would be expected to give a bleak prognosis. However, the convergence discovered here appears to dampen severe pathology, perhaps by cross-gene silencing of effects normally deleterious when such changes occur alone.

Uridine Treatment of the First Known Case of SLC25A36 Deficiency

SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In human beings, diseases triggered by SLC25A36 mutations have not been described yet. We report the first known case of SLC25A36 deficiency in a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Whole exome analysis identified the homozygous mutation c.803dupT, p.Ser269llefs*35 in the SLC25A36 gene. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with oral uridine led to an improvement of thyroid function and obstipation, increase of growth and developmental progress. Our findings suggest an important role of SLC25A36 in hormonal regulations and oral uridine as a safe and effective treatment.

The Influence of Consumer Behavior on Brand Success: A Case Study of Panasonic Corporation

The objective of this study is to investigate the influence of consumer behavior on brand success. Consumer behavior is a study of consumers and their methods to choose, consume, and dispose of products and services, including their social, cognitive, and developmental progress. Panasonic Corporation may face the issues of consumer behavior which affects customer satisfaction and loyalty affecting the company’s development. This paper presents the factors of consumer behavior that may bring Panasonic to its success. The findings provide particular qualities to enhance the opportunity of increasing its customer satisfaction and guidance for potential development.