Objective: The purpose of this study was to elucidate parents’ opinions about the stereotypic hand movements of the patients with Rett syndrome and the factors influencing such opinions. Methods: The participants comprised 131 families who were members of the Japan Rett Syndrome Association and 63 families who were members of the Rett Syndrome Support Organization. A questionnaire asking parents to report their opinions on stereotypic hand movements was sent by mail in 2020 to collect information. Results: Seventy-two parents returned the questionnaire. Opinions of 66 parents on stereotypic hand movements were collected. The parents’ opinions included, in the order of frequency, “worries, concerns, and stress about the stereotypic hand movements” (33 parents), “skin damage caused by the stereotypic hand movements” (29 parents), “no need to reduce the stereotypic hand movements” (28 parents) and “desire to reduce the stereotypic hand movements” (26 parents). A total of 23 opinions were extracted. The patients of the parents who reported worries, concerns, and stress about hand movements had delayed intellectual development and reduced operability of the upper limbs, compared to the children of those parents who did not. The patients of the parents who reported a desire to reduce the hand movements were younger, had delayed intellectual development, and reduced operability of the upper limbs compared to children whose parents reported no need to reduce the stereotypic hand movements. Conclusions: The results showed that the parents of patients with Rett syndrome have a variety of opinions about the stereotypic hand movements. Therefore, it is necessary to support the parents by understanding their opinions while paying attention to the patients’ factors that influence those opinions.

  Objective: This study aimed to compare the efficacy and safety of lacosamide (LCM) and levetiracetam (LEV) in children with focal epilepsy. Methods: We retrospectively analyzed the efficacy and safety of LCM and LEV monotherapy in children aged ≧4 and ＜16 years old with newly diagnosed focal epilepsy at Hiroshima City Funairi Citizens Hospital. The main outcome was seizure frequency during 12 months from the day of uptitration to the target dose, which was categorized as complete response (seizure-free), response (≧50% reduction), no response (＜50% reduction), or aggravation. Results: We enrolled 23 patients (14 boys) taking LCM (age at starting monotherapy, 4.1−13.6 years; median, 7.8 years) and 33 patients (18 boys) taking LEV (age at starting monotherapy, 4.0−15.8 years ; median, 8.8 years). The number of patients showing a complete response and response was 15 (65.2%) and 6 (26.1%), respectively, in the LCM group, and 21 (63.6%) and 8 (24.2%), respectively, in the LEV group. Efficacy was not significantly different, and no patients had aggravation in either group. Treatment-emergent adverse events (TEAEs) were reported in 6 patients (26.1%) taking LCM and 7 (21.2%) taking LEV. However, the number of TEAEs was not significantly different, and no patients discontinued therapy because of TEAEs. The TEAEs included somnolence in 5 patients, attention deficit in 1, headache in 1, and nasopharyngitis in 1 in the LCM group, and irritability and aggression in 3, somnolence in 3, headache in 1, feeling sick in 1, and vomiting in 1 in the LEV group. Conclusions: Monotherapy using LCM or LEV had equivalent efficacy and safety in children with focal epilepsy.

  RHOBTB2 encodes Rho GTPase, an adapter protein for the ubiquitin ligase complex. RHOBTB2-related disorders caused by the RHOBTB2 pathogenic variant were reported in 2018 ; they are characterized by early infantile epileptic encephalopathy and movement disorder. Currently, 30 patients have been reported. Both paroxysmal and non-paroxysmal movement disorders coexist, approximately half of patients had paroxysmal hemiplegia, similar to alternating hemiplegia of childhood. Acute encephalopathy and status epilepticus are often observed, and some of them are triggered by minor head trauma. Herein, we report the case of a boy with impaired consciousness and hemiplegia that lasted after a head trauma. A missense variant previously reported in RHOBTB2 (NM_001160036.2 : c.1531C＞T [p.Arg511Trp]) was detected later using a whole-exome sequence. The patient had episodes of epilepsy since the age of 4 months,. transiently experienced episodes of lethargy after the head trauma repeatedly. At 9 years of age, he had symptomatic findings suggestive of hemiplegic migraine attack, and consequently treated with steroid pulse and acetazolamide. He was discharged from the hospital without sequelae. Among the previously reported six patients with the same variant, two had the similar episode. Therefore, head trauma should be more carefully considered, especially in this variant. Furthermore, when we diagnose hemiplegic migraine or alternating hemiplegia of childhood, RHOBTB2-related disorders should also be considered.

  Basilicata-Akhtar syndrome is a rare X-linked disorder caused by a heterozygous or hemizygous pathogenic variant in MSL3 that results in global developmental delay apparent from infancy, feeding difficulties, muscular hypotonia. To date, approximately 40 cases have been reported. However, this disease has not been reported in Japan. Here, we report the first case of Basilicata-Akhtar syndrome in Japan. A 7-year-old Japanese boy presented with global developmental delay, hypotonia, and feeding problems. Physical examination revealed dysmorphic features including epicanthal folds, telecanthus, downslanted palpebral fissure, broad nasal bridge, anteverted nares, tented upper lip, lop ears, short hands and feet, tapered finger, genu valgum, pes planus, pectus carinatum, and scoliosis. Array comparative genomic hybridization analysis showed a nullisomy of the Xp22.2 region, including all coding region of MSL3 and only the 5’ region of ARHGAP6. The phenotypic characteristics of this patient were compatible with those previously reported in patients with Basilicata-Akhtar syndrome. His pathology was the deletion of all cording region of MSL3, leading to loss of function. Although there were two female cases of Basilicata-Akhtar syndrome with deletions of the all coding region of MSL3 and only the 5’ region of ARHGAP6, this is the first male case with a nullisomy of the same region. No differences in clinical presentation were observed between these three cases with the deletion and previously reported cases with single nucleotide variants of MSL3. Further cases from diverse ethnic groups with various variants are important to functionally characterize this syndrome.

  We report the case of a 15-year-old female patient with anti-N-methyl D-aspartate (NMDA) receptor encephalitis, who developed abnormal behavior and presented with impaired consciousness, hypertonia, and involuntary movement. She had a right ovarian tumor and underwent right adnexectomy, intravenous methylprednisolone (mPSL) pulse, and plasmapheresis ; however, she showed no response to these treatments. High-dose cyclophosphamide therapy was initiated on day 16 of symptom onset, and rituximab was administered on day 30 of symptom onset. Around day 50, the level of consciousness improved. Thereafter, speech gradually improved and she was able to walk. However, willingness to eat and cognitive function showed poor improvement. After intrathecal administration of methotrexate (MTX) and mPSL on day 160, oral intake and cognitive function improved. She was discharged with moderate disability, requiring some help on day 228. Therefore, intrathecal MTX treatment should be considered for patients with anti-NMDA receptor encephalitis, for whom other treatments have failed.

  Anti-N-methyl-D-aspartate receptor (anti-NMDA receptor) encephalitis often presents with psychiatric symptoms and involuntary movements. It is difficult to recognize psychiatric symptoms in infants, making diagnosis difficult. Additionally early diagnosis and treatment are desirable because the clinical symptoms are severe and may leave sequelae. Recently, the usefulness of SPECT and 18F fluorodeoxyglucose positron emission tomography (FDG-PET) as an adjunct diagnosis of anti-NMDA receptor encephalitis has been reported. In this study, we report a case of anti-NMDA receptor encephalitis in a 1 year and 8 months old boy with right-dominant involuntary movements and elevated left cerebral hemisphere blood flow on arterial spin labeling (ASL).

  Oral midazolam solution, used as prehospital treatment for children with status epilepticus, showed efficacy on 36/50 occasions (72%), with an average time of 4.6 minutes of seizure cessation. Responsive cases had a higher proportion of patients who adhered to the prescribed dose than non-effective cases (p=0.047). Respiratory depression was observed on one occasion (2%). Oral midazolam solution is a fast-acting and highly effective treatment ; however, adverse events such as respiratory depression should be noted.