Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.

Objective: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1-related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity.

Early Physiotherapy Intervention Program for Preterm Infants and Parents: A Randomized, Single-Blind Clinical Trial.

Background: The early developmental interventions might be designed with a preventative approach to improving the development of at-risk preterm infants. The present study aimed to evaluate the effectiveness of an early physiotherapy intervention on preterm infants' motor and global development, and on parents' stress index.

Methods: 48 infants were enrolled and randomized into two groups.

The Spanish version of the Alberta Infant Motor Scale: Validity and reliability analysis.

Objectives: Validity and reliability of the cross-cultural adaptive translation of the Alberta Infant Motor Scale (AIMS), to monitor gross motor development in infants from 0 to 18 months of age, were evaluated.

Methods: A cross-cultural translation was used to generate a Spanish version of the AIMS. Fifty infants at risk or with diagnosis of motor delay, 0-18 months of age, participated in this study.