A Japanese phrase, “Asa-okirukotoga-dekinai” is described as difficulty in morning awakening in the international classification of sleep disorders, version 3. This symptom is common among adolescents worldwide, with 40-90% of adolescents reporting complains of it. Difficulty in morning awakening is reported to be associated with school tardiness/absence, poor academic performance, nocturnal media usage, delay in bedtime, smoking, drinking, depressive conditions and sluggish cognitive tempo. The need for differentiation among allergic rhinitis, atopic dermatitis, long sleeper, obstructive sleep apnea syndrome, delayed sleep-wake phase disorder, sleep debt/insufficient sleep syndrome, idiopathic hypersomnia and psychiatric disorders is demonstrated in the literature. “Asa-okirukotoga-dekinai” is one of the major manifestations of orthostatic dysregulation, which is a common disease in the pediatric population in Japan. However, according to the English version of the clinical guidelines for this disease, “Asa-okirukotoga-dekinai” in orthostatic dysregulation is described as difficulty in getting out of bed, instead of difficulty in morning awakening. Care plans for adolescents with difficulty in morning awakening are summarized, and six future problems on difficulty in morning awakening have been demonstrated, including the sophistication of sleep education, social enlightenment on the importance of sleep in a sleep deficient society, interventions involving smoking/drinking cessation guidance and nocturnal media usage guidance, and research on sleep inertia/sleep drunkenness as well as on biological markers.

  Objective: This study aimed to examine whether direct listening to a patient narrative could enable health-care professionals to gain a deep understanding of advance care planning (ACP). Methods: A patient undergoing ACP delivered a lecture on his opinion regarding ACP to health-care professionals. A questionnaire survey was then conducted on 50 health-care professionals who had listened to the patient’s narrative. Results :Among the 50 health-care professionals, 39 responded (response rate, 78%). Among the respondents, 95% (n=37) recognized the term “ACP” and 87% (n=34) replied that they deeply understood ACP by listening to the patient’s narrative. Moreover, 0% (n=0), 41% (n=16), and 44% (n=17) of the respondents answered that they had gained a deep understanding of ACP by listening to health-care professionals, the patient, or both, respectively. In addition, 97% (n=38) answered that ACP was a necessary component of their own life. Conclusions :These findings suggest that direct listening to a patient narrative enables health-care professionals to deeply understand ACP. The opportunity to listen to a patient narrative appears to foster partnerships between the patient and health-care professionals and improve ACP.

  Object: To unveil the clinical features of patients with epileptic spasms and suppression-burst (SB). Methods: As a collaborative study of the National Hospital Organization, 512 patients with epileptic spasm during the clinical course of epilepsy were registered. Among them, we selected patients with onset of epilepsy younger than two years of age, and subsequently, we selected patients with SB on interictal EEG (SB group) and those with hypsarrhythmia as controls (HYPS group), from interictal EEG findings at the start of epileptic spasms treatment. Seizure outcome was evaluated by seizure free rate (SFR) for two months or longer and the seizure free period. Results: There were 17 patients in SB group and 314 patients in HYPS group. Etiologies in SB group included genetic alteration in five patients and hypoxic encephalopathy in three patients. Genetic alterations in SB group comprised STXBP1 variant in four patients and ARX variant in one patient. STXBP1 variant was significantly higher in SB group than in HYPS group. The age at onset of epilepsy and the age at onset of epileptic spasm were significantly younger in SB group than in HYPS group. Focal seizure as the seizure type at onset of epilepsy was frequently observed in SB group. At the last observation in the SB group, epileptic spasm was controlled by ACTH in two patients, CBZ in one patient, and VPA in one patient. SFR of epileptic spasms in SB group was 23.5%, which was significantly lower than that in HYPS group. The two groups did not differ significantly in intellectual disability scores and motor dysfunction scores at the last observation. Conclusions: Patients in the SB group had frequent genetic alterations, especially STXBP1 valiant. ACTH therapy had a relatively low SFR, but showed the longest seizure free period.

  We report a case of a 15-year-old boy who developed uveitis after being diagnosed and treated for acute disseminate encephalomyelitis (ADEM). He presented with seizure and was diagnosed as ADEM based on multifocal subcortical white matter lesions with hyperintensity on T2-weighted and fluid-attenuated inversion recovery MRI. He was successfully treated with steroid and was subsequently treated as an outpatient. After 101 days, he developed ocular conjunctival hyperemia, eye pain, and decreased visual acuity, and was diagnosed as uveitis. Extensive workup to exclude uveitis associated with juvenile chronic iridociliary ciliary body inflammation, juvenile idiopathic arthritis, renal tubulointerstitial nephritis (TINU syndrome), and Behçet’s disease were all negative. He was carefully followed considering multiple sclerosis (MS) but has had no relapse and brain MRI did not reveal any new lesions. Steroid eye drops improved uveitis. To the best of our knowledge, there are no previous reports of children with ADEM complicated by uveitis. There have been many case reports on MS associated with uveitis, mainly in Europe and the United States. ADEM, an acquired demyelinating disease similar to MS, may share a common immunologic basis with uveitis. At present, we consider this case to be ADEM, but there is a possibility that other demyelinating diseases will be diagnosed later, and careful follow-up is necessary.

  Recently, encephalitis associated with antibodies to glial fibrillary acidic protein (GFAP), which presents in the cytoskeleton of astrocytes, has been proposed as a new disease. Although it presents with characteristic imaging findings of subacute meningoencephalitis and meningoencephalomyelitis, most patients are adult. In recent years, pediatric patients have been reported from foreign countries ; however, only one case has been reported from Japan. Our patient was a 5-year 8-month-old boy. He had no previous medical history and presented with prolonged fever, meningeal irritation, and altered consciousness. Despite an elevated cerebrospinal fluid cell count, infection was ruled out. Inflammatory demyelinating disease was suspected and the patient was started on steroid pulse therapy. The disturbance of consciousness improved after the start of treatment. Diffusion-weighted magnetic resonance imaging showed high spotty and linear signals in the periventricular white matter and corpus callosum bilaterally ; additionally, positive spinal fluid anti-GFAP antibodies led to the diagnosis of GFAP astrocytopathy. Furthermore, serum anti-myelin oligodendrocyte glycoprotein antibody and serum anti-aquaporin 4 antibody were negative. The patient underwent a total of three courses of steroid pulses and was discharged from the hospital without sequelae. Prednisolone was tapered off over a period of approximately 8 months without any recurrence. Autoimmune GFAP astrocytopathy might not be rare in Japan, it may remain undiagnosed. Therefore, it should be suspected in children with steroid-responsive meningoencephalitis or meningoencephalomyelitis, or in patients of central inflammatory diseases with characteristic imaging findings.

  Spinal muscular atrophy (SMA) is a hereditary lower motor neuron disease. Traditionally prenatal diagnosis has been performed for genetic testing in the first trimester of pregnancy of a child with type I or type II SMA, if the parents wish and if they have a good understanding of the significance of the test. In the past, most pregnancies were terminated when the disease was discovered due to lack of treatment options. However, the significance of prenatal diagnosis is changing now that several disease-modifying drugs are now covered by insurance. In this report, we describe two cases in which prenatal diagnosis was performed in collaboration with a medical facility in the patient’s place of residence for cases in remote areas, and early introduction of postnatal treatment was successfully achieved. Case 1 is a 28-month-old girl and case 2 is a 12-month-old boy. Case 1’s older brother was diagnosed with SMA type Ib and Case 2’s older brother with SMA type Ia. Since both cases tested positive for prenatal genetic testing (affected), we confirmed the parents’ intention to deliver and treat the children, and established a postnatal treatment system in collaboration with the hospital in their area of residence. Case 1 had respiratory irregularities, so nusinersen treatment was started at the local hospital on the 9th day of life, and onasemnogene abeparvovec was administered at 3 months and 21 days of age. Case 2 had tendon reflex loss from birth, so nusinersen treatment was started at the hospital of residence on the second day of life, and onasemnogene abeparvovec was administered on the 11th day of life. Case 1 achieved independent ambulation at 11 months of age and was able to jump at 26 months. Case 2 achieved independent sitting at 12 months of age. We believe that prenatal diagnosis of SMA will be conducted with the aim of establishing a complete treatment system at the time of positive (affected) cases, as in these two cases.

  Among the many reported etiologic genes for hereditary motor-sensory neuropathy, the GNB4 variant has been rarely reported, with only one case reported in a Japanese family. We present the case of a 14-year-old girl with hereditary motor-sensory neuropathy who was diagnosed as having a GNB4 variant after proper examination. Her chief complaints were repeated falls and learning difficulties. She had been diagnosed with tethered spinal cord syndrome due to a terminal filum lipoma at the age of 8 years and had undergone untethering surgery, but her tendency to fall and poor academic performance had not improved. No notable findings were observed in the cerebral neurological examination, but the patient had weakness of the anterior cervical muscles and decreased sensation in the S1 area. Blood tests and MRI of the head and spinal cord showed no abnormalities. Nerve conduction studies revealed decreased nerve conduction velocity with lower extremity predominance. Genetic analysis showed no duplication or deletion of PMP22, but a heterozygous variant was found in GNB4 gene (NM_021629.4 : c.229G＞A, p.Gly77Arg) by the etiological gene analysis for Charcot-Marie-Tooth disease. This is a de novo variant that has not been included in any database ; the same variant was not found in the parents. Her intelligence quotient scores by the WISC-IV were in the borderline range. There was variability in each item, with especially low scores in perceptual reasoning. Although few studies have reported on GNB4 variants and no association with neurodevelopmental disorders, it is necessary to compile more cases because GNB4 variants may be related to the symptoms of the central nervous system.

  We investigated the long-term clinical outcomes of 10 individuals with severe motor and intellectual disabilities (SMID) who were observed for more than 5 years after surgical closure of the larynx. There were two cases of suture dehiscence who underwent reoperation. Prevention of aspiration was maintained in all cases, including those that underwent reoperation. No patients had developed tracheo-innominate artery fistula. It was difficult to maintain decannulation of tracheostomy tubes and oral food intake, especially in the cases requiring non-invasive positive pressure ventilation preoperatively. In cases of severe aspiration, this procedure is recommended before the deterioration of respiratory function.