Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020.

BACKGROUND: Good sleep is essential for children's healthy growth. In 2005, we conducted a questionnaire survey on children's sleep habits and their background, targeting parents who attended health checkups for their 3-year-old children in Asahikawa City, Hokkaido. In 2020, we performed a secondary survey, including additional questions regarding media usage. We analyzed changes in children's sleep environment by comparing the results of both surveys. METHODS: Children from 500 families (n = 420; 219 males, 201 females; mean age, 3.6 years) who underwent 3.5-year-old health checkups (per the changed schedule in 2015) in Asahikawa City from July 2020 to November 2020 and their parents who had completely answered the questionnaire were included. RESULTS: The proportion of children who used childcare support system such as nursery schools or kindergarten increased from 30% in the previous survey to 95% in the present survey. The mean nocturnal sleep duration of children was 9.33 h in the present survey, 0.77 h shorter than that in the previous survey; similar to the previous survey results, it was significantly short (8.71 h) in children who went to bed after 10 PM. Moreover, it was significantly short in children who watched television for more than two hours or used media within two hours before going to bed or if parents used smartphones or watched motion pictures for >30 min/day. The rate of consulting pediatricians regarding sleep problems decreased from 3% to 2.4%. CONCLUSION: Parents' lifestyles greatly influenced children's sleep habits in 2020. Pediatricians should actively participate in managing children's sleep problems.

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological disorders, primarily reported in male patients. Here, we report a female patient with developmental and epileptic encephalopathy who carries the novel de novo GRIA3 variant NM_007325.5: c.1982T > C: p.Met661Thr.

Wisconsin syndrome with brain volume laterality: a case report and review of the literature.

BACKGROUND: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported. CASE REPORT: We present the case of a 5-year-old Japanese girl with a 3q24q25.2 deletion. Her facial features corresponded to the Wisconsin syndrome phenotype, and she exhibited brain volume laterality, which has not been reported previously. CONCLUSION: The clinical features of our case may contribute to narrowing down the list of candidate genes of Wisconsin syndrome.

Severe gastrointestinal symptoms caused by a novel DDX3X variant.

Mutations in DDX3X have recently been identified as a common cause of intellectual disability and congenital anomalies. DDX3X (Xp11.4) encodes the DEAD box RNA helicase that plays an important role in gene regulation, apoptosis, and oncogenesis. Here, we report a case of 6-year-old Japanese girl with a novel variant (NM_001193416.3: c.1574A > G; p.(Tyr525Cys), who exhibited psychomotor retardation, severe constipation, and a recurrent paralytic ileus. This is the second report of severe gastrointestinal symptoms being associated with this disease. This report expands the phenotype caused by DDX3X variants and reveals an important clinical aspect for patients and medical staff.