Objective: The present study aimed to investigate the association among psychomotor development, patient profiles, rehabilitation in our clinic, and complications in Down syndrome. Methods: We investigated the profiles, rehabilitation, complications, acquisition of motor developmental milestones, age at utterance of the first specific word, intelligence quotient (IQ) or developmental quotient (DQ) of patients with Down syndrome who first visited to our clinic from January 1997 to December 2016. We also examined the associations among the aforementioned factors. Results: Fifty eight patients with Down syndrome were included in this study but a patient whose first visit was in adulthood and a patient with mosaic trisomy were excluded. The average age of investigation and the first visit of them were 9.8 years and 22.3 months old, respectively. Fifty four patients (93%) had medical complications ; heart defects 37 patients, eye disorder 17, thyroid disease 11, hearing loss 9, hematologic diseases 5, gastrointestinal disease 3, and epilepsy 2. Hearing loss and epilepsy were related to motor developmental delay and the delayed utterance of the first specific word. Results of IQ or DQ in patients with hearing loss and epilepsy were lower than those in patients without these conditions. In contrast, patients' profiles and the other medical complications mostly were not related to the developmental levels. The patients who started physical therapy before 12 months old needed significantly shorter physical therapy periods to acquire independent walking than those who started physical therapy after 24 months old. Conclusion: Because epilepsy showed negative effects for patients' development, early intervention by treatment and rehabilitation would be important. Hearing loss also showed similar effect ; however, a final conclusion would require further considerations due to existence of other possible complications which might show some effects. In conclusion, early physical therapy would be important for early acquisition of independent walking for patients with Down syndrome.

  Objective: This study investigated the possibilities and challenges of medical intervention for children with developmental disorders in a hospital that is not specialized in education and therapy for such children. Methods: The participants were 506 children (367 preschool-age and 139 school-age children) with autism spectrum disorder and/or attention-deficit hyperactive disorder who visited the hospital between April 2009 and September 2018. We surveyed the results of consultation and the contents of medical treatment. Results: Preschool-age children who visited the hospital for over 1 year generally needed personal support in the group activities and underwent occupational/speech therapy or assessments, and their parents were informed of the diagnosis. Seventy percent of those who stopped visiting within 1 year interrupted their therapy. Especially, a high ratio of foreign patients interrupted their therapy within 1 year. School-age children mainly visited the hospital for medication or diagnoses, and 11% of them transferred to a psychiatric hospital. A multidisciplinary team cooperated for 61% and 27% of the preschool-age and school-age children, respectively. Conclusions: Not only specialized hospitals but also nonspecialized hospitals can play a role as part of a multidisciplinary team. However, there are some problems with these interventions, such as in flexibly cooperating in terms of education or psychiatry for school-age children, supporting the multidisciplinary team, and maintaining a system of high-quality interventions in nonspecialized hospitals. Therefore, organizations should recognize each region's various needs and medical resources and exhibit leadership as a multidisciplinary team.

  KCNQ2 gene variants cause benign familial neonatal epilepsy, Ohtahara syndrome, and infantile spasms. We report an infant with a recurrent de novo variant of NM_172107.3 (KCNQ2) : c.593G＞A (p.R198Q). In the neonatal period, she did not exhibit seizures, but was irritable and developed abnormal movements characterized by high-amplitude tremor-like jerky movements, with increasing muscle tone running from the neck to the upper limbs. The abnormal movements had no correlates with the video-electroencephalography (EEG) findings. The irritability and abnormal movements were most severe 2 to 4 months after birth. Diazepam was somewhat effective at controlling the irritability and abnormal movements. She developed infantile spasms 5 months after birth and was then treated with adrenocortical-stimulating hormone and valproate. At 18 months of age, she remains seizure-free on valproate monotherapy, but exhibits severe developmental delay. The KCNQ2 R198Q variant, a gain-of-function missense variant, has been reported in patients experiencing infantile spasms, but not neonatal seizures. However, abnormal movements caused by KCNQ2 R198Q have not been reported. There are a few reports of similar neonatal abnormal movements, called myoclonic jerks, in patients with other KCNQ2 gain-of-function missense variants. Such movements in the neonatal period may be useful for the early diagnosis of KCNQ2-associated encephalopathy.

  Os odontoideum (OO) is a rare anomaly of the second cervical vertebra (axis), defined as an independent ossicle separated from the base of a shortened odontoid process by an obvious gap, without osseous connection to the body of the axis. It causes spinal cord and vertebral arterial injury due to atlantoaxial dislocation. We herein report a case of multiple cerebral infarction in the posterior cerebral arterial region caused by OO. A 4-year-old boy was admitted because of weakness of the right upper and lower extremities. Brain magnetic resonance imaging and magnetic resonance angiography showed acute cerebral infarction at the left side of the thalamus and stenosis and obstruction of the bilateral posterior cerebral arteries, respectively. He was initially treated with aspirin as antiplatelet therapy, which failed to prevent repeated cerebral infarction in the posterior cerebral arterial area. Since rotational thromboelastometry (ROTEM^®) showed a hypercoagulable tendency, he was treated with heparin, which successfully prevented recurrence. Cerebral angiography revealed stenosis and thrombus formation of the vertebral arteries, and OO was found by brain computed tomography. Atlantoaxial subluxation due to OO is a major cause of cerebral infarction in the posterior cerebral arterial region.