A novel homozygous mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report.

Metachromatic leukodystrophy (MLD) is a genetic lysosomal disease. Here, we investigated the role of prosaposin () gene mutations in MLD. This current case report describes a female patient who presented with motor development regression at two years and five months of age.

Parental food neophobia, feeding practices, and preschooler's food neophobia: A cross-sectional study in China.

Unlabelled: This study explores the relationship between parental food neophobia, feeding practices, and preschoolers' food neophobia in China.

Methods: A cross-sectional study was conducted among 1616 pairs of preschoolers and their parents. Electronic questionnaires were conducted to collect information about social and demographic characteristics, scores of food neophobia among both children and their parents, parents' feeding patterns and children's dietary quality.

Underdevelopment of gut microbiota in failure to thrive infants of up to 12 months of age.

Laboratory and clinical studies have revealed the importance of gut microbiota in children with severe pediatric pathological conditions such as severe acute malnutrition (SAM); however, under relatively milder conditions such as, failure to thrive (FTT), the role of the gut microbiota remains poorly characterized. Here, we analyzed stool samples from 54 subjects with a clinical diagnosis of failure to thrive (FTT), 49 preterm subjects with corrected normal growth (NFTT-pre), and 49 healthy subjects (NFTT) between 3-12 months of age using 16S rRNA gene sequencing. We observed that the clinical condition of FTT, age, head circumference, intrauterine growth restriction (IUGR), and feeding methods significantly affected gut microbiota.

Screen Time and Its Association with Vegetables, Fruits, Snacks and Sugary Sweetened Beverages Intake among Chinese Preschool Children in Changsha, Hunan Province: A Cross-Sectional Study.

(1) Introduction: Screen time may influence preschoolers' food consumption. However, there is limited evidence regarding preschoolers, especially in China. The aim of this cross-sectional study was to investigate the association between screen time and the consumption of vegetables, fruits, snacks, and sugar sweetened beverages (SSBs).

A novel UBE2A splice site variant causing intellectual disability type Nascimento.

X-linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin-conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generalized hirsutism, and urogenital abnormalities. Till date, only two splice-site variants of the UBE2A gene have been observed in patients with X-linked ID type Nascimento.

[Neurodevelopmental features of preterm infants at the corrected age of 1 year].

Objective: To investigate the neurodevelopmental level of preterm infants at the corrected age of 1 year and the effect of complications on neurodevelopment.

Methods: The clinical data and follow-up data of hospitalized preterm infants were retrospectively studied. The Bayley Scales of Infant Development was used to assess the neurodevelopmental level.

[Neurobehavioral development in preterm infants: a retrospective study of 181 cases].

Objective: To investigate the results of Gesell Developmental Scale in follow-up of preterm infants and to determine possible high-risk factors for poor long-term neurological outcome.

Methods: A preterm infants' questionnaire was designed, and a retrospective study was conducted on the clinical data of 181 preterm infants (corrected age 2-12 months) and their mothers. The developmental quotient (DQ) scores were determined by the Gesell Developmental Scale and statistically analyzed.