Objective: The present study investigated motor skills in children with attention-deficit hyperactivity disorder (ADHD) and its influence on their choices of action, which provided basic findings for prevention of unintentional injury in their living conditions. Methods: A case-control study was performed with 51 typically developing (TD) children and 35 children with ADHD. Their motor skills were evaluated by The Movement Assessment Battery for Children—Second Edition (MABC-2). We conducted an experimental task regarding the choices of action, in which the subjects were asked to pass through the rope by either stepping over or passing under it. We compared the scores of the MABC-2 and the performance in the experimental task among the subject groups, then identified the factors which would affect their choices of action. Results: Children with ADHD showed lower performance on their total MABC-2 score than did the TD children. In particular, their ball and gross motor skill performances were impaired compared with those of the TD children. In the experimental task, children with ADHD tried to pass under the rope set at a low height while the TD children stepped over the rope at the same level. The height of the rope that subjects chose to pass under was predicted by the attention performance of the subjects, but not by their motor skill performance. Conclusions: Japanese children with ADHD had impaired gross motor skills as well as difficulties in item-based motor skills. Moreover, their choices of action seemed inefficient, which was affected by severe inattention toward both the environment and their body schema. Thus, we should consider attention performance as well as motor skill performance in prevention of unintentional injuries.

  Objective: Several previous reports demonstrated adrenal insufficiency as a side effect of hormonal therapy using natural adrenocorticotropic hormone (ACTH) for infantile spasms (West syndrome). However, no study has assessed the hypothalamo-pituitary-adrenocortical function after synthetic ACTH therapy, which is commonly used in Japan. Methods: We retrospectively investigated 37 patients with infantile spasms (West syndrome) who received synthetic ACTH between April 2010 and March 2017. Thirty five patients underwent a corticotropin-releasing hormone (CRH) loading test after ACTH therapy. Patients with a peak serum cortisol concentration below 15μg/dl were considered to be at risk for adrenal insufficiency. Results: Of the 35 patients, four (11%) exhibited a peak cortisol concentration below 15μg/dl. There was no significant difference between the patients with and without the risk of adrenal insufficiency in terms of age at ACTH therapy, total amount of ACTH administration, duration of ACTH administration or presence of other critical side effects besides adrenal insufficiency. Conclusions: This is the first report examining the hypothalamo-pituitary-adrenocortical function following synthetic ACTH therapy. Clinicians should be aware that some patients exhibit an insufficient response on the CRH loading test after synthetic ACTH therapy. The predictors of the risk of adrenal insufficiency were not identified.

  Objective: In this study, developmental features of children with very low birth weight (VLBW) were examined longitudinally using the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III). Methods: All VLBW infants examined were born in Toyama University Hospital of NICU between August 2010 and December 2014. Sixty-six VLBW infants were assessed using the complete Bayley-III at 18 months corrected age and 36 months. In addition to the longitudinal score comparison, we set the reference point for development delay for five scaled scores to values less than −1 SD, classified the participants into three groups (non-catch-up group[NCU group : delayed at both 18 months corrected age and 36 months], catch-up group[CU group : delayed at 18 months corrected age but healthy at 36 months], and good progress group[GP group : healthy at both 18 months corrected age and 36 months]), and then compared groups. Results: In the longitudinal comparison, the language composite score significantly improved (p＝0.000). The NCU group comprised 24 infants, the CU group comprised 21 infants, and the GP group comprised 21 infants. There was no significant difference in the clinical background in these 3 groups, but there was a difference in the longitudinal score change in the 3 groups. Comparing the scaled scores at 18 months corrected age between the three groups, the cognitive and gross motor scores were significantly lower for the NCU group (cognitive : p＝0.033, gross motor : p＝0.002). Conclusions: These results suggest that VLBW children between 18 months corrected age and 36 months of language development were remarkable, but when classified according to the developmental process, the developmental status varied among these children. Therefore, we suggest that the low cognitive and gross motor score recorded at 18 months corrected age were features of the group with a high risk for developmental delay at 36 months.

  Here, we report a case of a 12-year-old boy with weakness in and atrophy of the left upper arm, which gradually occurred after 1 year of neck stiffness. The Spurling test was positive for the left shoulder, and cervical CT showed atrophy of the left deltoid muscles. Cervical MRI revealed swelling and high intensity area on the left brachial plexus, especially in the C5 and C6 nerve bundles on STIR image. Electrophysiologic studies indicated neurogenic changes. After pulse steroid therapy, symptoms immediately improved. Cervical spondylotic amyotrophy (CSA) usually occurs in young adults, and it is very rare in children. Symptoms limited on specific nerve root lesion are characteristics of CSA.

  KCNQ2 is a causative gene that underlies benign familial neonatal convulsions (BFNC) or developmental epileptic encephalopathy (DEE). In the present case study, the patient is a boy aged 40 months ; a second child to healthy parents. Since 8th day after birth, the patient started to cry persistently, and ceased to breathe. He also suffered from repeated seizures resulting in appendicular stiffness, which was managed by phenobarbital administration for up to seven months. At the age of 15 months, repeated episodes of seizures occurred during fever, which required intravenous anticonvulsant medication, and prophylactic administration of diazepam suppositories. Myoclonic seizures increased during the poor physical condition, and a prolonged disturbance of consciousness was observed after the tonic-clonic seizures. At the age of 35 months, the patient was assessed by the Kyoto Scale of Psychological Development 2001, and this revealed a development quotient (DQ) of 49, with mild autism and overgrowth. With the consent of the parents, and by employing a target capture method, 154 genes that are considered to be the cause of epilepsy were analyzed, leading to the identification of a de novo 2-bp duplication mutation (NM_172107.2 (KCNQ2_v001) : c. 2401_2402dup (p. Phe802Profs^＊129)). Mutations in the KCNQ2 gene are known to exhibit either the BFNC or DEE phenotype ; however, our patient displayed an intermediate phenotype characterized by neonatal seizures with favorable treatment response, myoclonic seizures, seizure clusters with fever, mild developmental delay, and autistic tendency. This study has identified a novel mutation that has not been reported previously. Further, it can be deduced that the KCNQ2 dominant-negative effect could be due to a frameshift. The case of this patient indicates that KCNQ2-related epilepsy might be a disease associated with the continuity of phenotype.

  We report an Ohtahara syndrome female patient with a de novo SCN2A variant (p.Trp1594Cys) who showed hyperuricemia caused by lidocaine administration. She experienced generalized tonic seizures from 1 day of age, and spasms from 3 months of age. Electroencephalography displayed suppression-burst pattern. Lidocaine administration successfully suppressed her seizures ; however, owing to hyperuricemia, lidocaine administration was discontinued. To the best of our knowledge, this is the first report of hyperuricemia caused by lidocaine administration.

  Glutaric aciduria type 1 (GA1) is a metabolic disorder caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Most patients develop an acute encephalopathic crisis in early childhood, and present severe involuntary movements like dystonia. Herein, we present a female patient with GA1 who showed megalencephaly and moderate intellectual disability, but no encephalopathic crisis. A brain MRI showed white matter degeneration and hypoplasia of the bilateral temporal lobes. The diagnosis of GA1 was confirmed biochemically by urine organic acid analysis. GCDH gene analysis showed c.914C>T (p. Ser305Leu) & c.1016T>G (p.Met339Arg) known compound heterozygous mutations. Typically, patients with “late-onset type” GA1 are rarely reported. These patients present neither encephalopathic crisis nor involuntary movements in early childhood. However, they do develop non-specific neurological symptoms including headache, dizziness, tremor, cognitive dysfunction, spastic paralysis, and urinary incontinence in adolescence and adulthood. As GA1 phenotypes are not correlated with residual GCDH activity or genotypes, it is not known why these patients do not suffer from acute encephalopathy. Early diagnosis is as important for patients with the late-onset type GA1 as it is acute-onset type GA1 because administration of carnitine and the restriction of excess protein intake may improve symptoms. In Japan, newborn screening for GA1 began in 2011. Therefore, it is important to consider the diagnosis of the late-onset type GA1 and analyze urine organic acid in patients born before 2011 who present non-specific neurological symptoms and white matter degeneration with hypoplasia of the bilateral temporal lobes.

  Herein we report a neonatal case of spinal muscular atrophy (SMA) typeⅠ treated by the antisense oligonucleotide drug, nusinersen, from 55 days after birth. A male infant showed no abnormalities at birth, but demonstrated hypotonia at his 1-month checkup. He was diagnosed as SMA typeⅠ by genetic test at 48 days after birth and treated by nusinersen from day 55. He required no respiratory assistance, could feed orally, and move his upper and lower limbs against gravity during early treatment ; however, the quantity of oral feeding gradually decreased from 4 months following an upper respiratory tract infection. He subsequently experienced aspiration pneumonia and required tube feeding. With no improvement in his paradoxical breathing at 6 months, the infant was started on noninvasive positive-pressure ventilation during sleep and a cough-assist device. Thus, early administration of nusinersen for a neonate with SMA typeⅠ recovered limb movement, but did not fully stabilize his respiratory condition and oral feeding. This patient was considered as having SMA typeⅠa if subcategorized, and we predict that the efficacy of nusinersen could vary depending on the SMAⅠ subcategory, with typeⅠa showing only partial response to treatment.

  Duchenne muscular dystrophy (DMD) is one of the serious muscular diseases that occurs in 1 in 3,500 male births. The responsible gene, DMD, is located at Xp21 and thus related to an X-linked recessive inheritance pattern. Many patients inherit mutations from their mother who are DMD mutation carriers ; however, in sporadic cases without positive family histories, genetic testing is necessary to clarify whether the mothers are carriers or not. Although the proband's mother longed for the next child, she could not think positively about carrier diagnosis. Therefore, we spent enough time for genetic counseling. In this study, we identified a rare germline mosaicism of [NM_004006.2 (DMD) : c.1132C>T (p.Gln378^＊)] in the proband's mother, and evaluated the risk of recurrence based on the mosaic ratio in the tissues other than the blood. Later, she understands and accepts her own situation more objectively by thinking about the result and considering rare mosaic mutations.

  Opsoclonus myoclonus syndrome (OMS) is assumed to be an autoimmune disease caused by autoantibodies. We report a case of OMS who were unresponsive to conventional immunotherapies but were successfully treated with rituximab. We consider that rituximab could be one of the early treatment options to improve outcome for the case of refractory OMS.

  A 12-year-old previously healthy boy was admitted for psycho-behavioral symptoms. He was diagnosed with anti-N-methyl-D-aspartate (NMDA) receptor encephalitis by antibody test and improved by immunotherapy. However, he was re-admitted for seizures, speech and writing difficulties with abnormal MRI findings in the left frontal cortex. His cerebrospinal fluid samples were positive for anti-myelin oligodendrocyte glycoprotein (MOG) and anti-NMDA receptor antibodies in both episodes. The coexistence of both antibodies induced different symptoms between the two episodes, and anti-NMDA receptor encephalitis is associated with anti-MOG antibody and cerebral cortical encephalitis.