RESUMEN
BACKGROUND: Parents of adolescents with internet addiction are confronted with their children's internet problems on a daily basis. Parents may notice that adolescents with addiction may also have emotional and behavioral problems, including impulsivity and violence. Parenting styles have been found to be related to internet addiction. OBJECTIVE: The purpose of this study is to investigate parents' perspectives on their parenting style, relationship with their child, and the degree of internet addiction and emotional and behavioral problems of their child. METHODS: A web survey was conducted with 600 parents of children between the ages of 12 and 17 years, from October 14 to 18, 2021, across Japan. Respondents were recruited by an internet research company and were asked to complete an anonymous online questionnaire. The survey was divided into two groups: 300 parents who answered "yes" to the question "Do you think your child is dependent on the internet?" and 300 parents who answered "no" to that question. Questionnaires were collected until each group had 300 participants. The questionnaire included (1) the Parent-Child Internet Addiction Test (PCIAT), (2) the daily time spent using the internet, (3) the Strengths and Difficulties Questionnaire (SDQ), (4) the Parenting Style and Dimensions Questionnaire (PSDQ), and (5) the Relationship Questionnaire (RQ) measuring self-report attachment style prototypes. RESULTS: Mean scores of the PCIAT and the daily time spent using the internet for the group with probable internet addiction were significantly higher than those of the group without probable internet addiction (50%; P<.001). The total difficulties score from the SDQ for the group with probable internet addiction (mean 10.87, SD 5.9) was significantly higher than that for the group without probable internet addiction (mean 8.23, SD 5.64; P<.001). The mean score for authoritarian parenting from the PSDQ for the group with probable internet addiction (mean 2.1, SD 0.58) was significantly higher than that for the group without probable internet addiction (mean 2.1, SD 0.58; P<.001). Regarding the RQ, there were no significant differences between the two groups. CONCLUSIONS: Our findings suggest that parents who think their child is addicted to the internet may recognize emotional and behavioral problems of the child and have an authoritarian parenting style.
RESUMEN
PURPOSE: Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed to identify new genes involved in OS by copy number analysis and whole exome sequencing. METHODS: Copy number analysis and whole exome sequencing were performed in 34 and 12 patients with OS, respectively. Fluorescence in situ hybridization, quantitative polymerase chain reaction (PCR), and breakpoint-specific and reverse-transcriptase PCR analyses were performed to characterize a deletion. Immunoblotting using lymphoblastoid cells was done to examine expression of CASK protein. KEY FINDINGS: Genomic microarray analysis revealed a 111-kb deletion involving exon 2 of CASK at Xp11.4 in a male patient. The deletion was inherited from his mother, who was somatic mosaic for the deletion. Sequencing of the mutant transcript expressed in lymphoblastoid cell lines derived from the patient confirmed the deletion of exon 2 in the mutant transcript with a premature stop codon. Whole exome sequencing identified another male patient who was harboring a c.1A>G mutation in CASK, which occurred de novo. Both patients showed severe cerebellar hypoplasia along with other congenital anomalies such as micrognathia, a high arched palate, and finger anomalies. No CASK protein was detected by immunoblotting in lymphoblastoid cells derived from two patients. SIGNIFICANCE: The detected mutations are highly likely to cause the loss of function of the CASK protein in male individuals. CASK mutations have been reported in patients with intellectual disability with microcephaly and pontocerebellar hypoplasia or congenital nystagmus, and those with FG syndrome. Our data expand the clinical spectrum of CASK mutations to include OS with cerebellar hypoplasia and congenital anomalies at the most severe end.