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The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.

Objective To systematically translate the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) into Korean and verify the reliability and validity of the Korean version (K-DMDSAT). Methods The original DMDSAT was translated into Korean by two translators and two pediatric physiatrists. A total of 88 patients with genetically confirmed Duchenne muscular dystrophy (DMD) participated in the study. They were evaluated using the K-DMDSAT once as a self-assessment and once by an interviewer. The interviewer evaluated the K-DMDSAT again 1 week later using a test-retest approach. The intraclass correlation coefficient (ICC) was used to verify the interrater and test-retest reliabilities. Pearson correlation analysis between the K-DMDSAT and the Brooke or Vignos scales were used to assess validity. Results The total score and all domains of the K-DMDSAT showed excellent interrater and test-retest reliability, with an ICC for total scores of 0.985 and 0.987, respectively. All domains had an ICC >0.90. From the Pearson correlation analysis, the total K-DMDSAT score was significantly correlated with the Vignos and Brooke scales (r=0.918 and 0.825, respectively; p

Objective To evaluate the current status of pain severity and quality of life (QoL) in patients with complex regional pain syndrome (CRPS), and to assess both their perceived needs and any unmet needs of current rehabilitation services. Methods A single-center questionnaire-based survey was conducted on 47 patients with CRPS who were diagnosed based on Budapest’s criteria. It collected demographic and clinical data, and the structured questionnaire included the Brief Pain Inventory (BPI), the Korean version of the World Health Organization Disability Assessment Schedule II (WHODAS-K II), as well as the 5-Level EuroQol-5D (EQ-5D-5L) for measuring the QoL. Results The average value of BPI and WHODAS-K II were 7.69%±2.26% and 70.49%±19.22%, respectively. In the evaluation of their perceived needs and unmet needs for rehabilitation, patients had the highest rehabilitation needs in terms of pain (95.74%), followed by bodyaches (80.85%). Regarding their unmet needs, patients had the highest unmet needs in terms of memory impairment (83.33%), followed by weight management (72.00%). According to the regression analysis, only the overall BPI was significantly associated with QoL (p=0.01), and a higher BPI value led to poorer results for QoL. Conclusion In Korea, patients with CRPS do not receive adequate rehabilitation, and they are not satisfied with current received treatments. A more structured and individualized rehabilitation treatment plan is required to manage every aspect related to chronic pain, and provision should be made for improved care guidelines for future CRPS management.

Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantile-onset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decisionmaking, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients.

Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantile-onset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decision-making, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients. [ABSTRACT FROM AUTHOR]