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Due to the COVID-19 pandemic, higher educational institutions worldwide switched to emergency distance learning in early 2020. The less structured environment of distance learning forced students to regulate their learning and motivation more independently. According to self-determination theory (SDT), satisfaction of the three basic psychological needs for autonomy, competence and social relatedness affects intrinsic motivation, which in turn relates to more active or passive learning behavior. As the social context plays a major role for basic need satisfaction, distance learning may impair basic need satisfaction and thus intrinsic motivation and learning behavior. The aim of this study was to investigate the relationship between basic need satisfaction and procrastination and persistence in the context of emergency distance learning during the COVID-19 pandemic in a cross-sectional study. We also investigated the mediating role of intrinsic motivation in this relationship. Furthermore, to test the universal importance of SDT for intrinsic motivation and learning behavior under these circumstances in different countries, we collected data in Europe, Asia and North America. A total of N = 15,462 participants from Albania, Austria, China, Croatia, Estonia, Finland, Germany, Iceland, Japan, Kosovo, Lithuania, Poland, Malta, North Macedonia, Romania, Sweden, and the US answered questions regarding perceived competence, autonomy, social relatedness, intrinsic motivation, procrastination, persistence, and sociodemographic background. Our results support SDT’s claim of universality regarding the relation between basic psychological need fulfilment, intrinsic motivation, procrastination, and persistence. However, whereas perceived competence had the highest direct effect on procrastination and persistence, social relatedness was mainly influential via intrinsic motivation.

We describe a Japanese brother and sister with Martsolf syndrome. They had short stature, severe mental retardation, cataract, hypogonadism, craniofacial dysmorphism, and bone and joint symptoms including scoliosis, lax finger joints, and talipes valgus. Previously undescribed findings included proximal femoral epiphyseal dysplasia reminiscent of Legg-Calve-Perthes disease in both patients, and Klippel-Feil malformation and osteopathia striata in one patient. Brain MRI showed mild frontal and temporal lobe atrophy, and mild ventricular enlargement. Severe GH deficiency was demonstrated after insulin tolerance and glucagon/propranolol tolerance tests. No responses to serum LH and FSH after a gonadotropin-releasing hormone (GnRH) test suggested secondary hypogonadism, that is, hypogonadotropic hypogonadism, due to hypothalamus-pituitary axis insufficiency in both patients.

Critical illness polyneuropathy (CIP) is a sensorimotor polyneuropathy recognized in adult intensive care patients with sepsis and multiple organ dysfunction and only a few cases have been reported in children. Here we report a 13-year-old Japanese boy with CIP that developed during the course of encephalopathy. Two months after the onset of encephalopathy, he developed tetraplegia although consciousness had already recovered. Deep tendon reflex was absent. MRI of the brain and spinal cord was normal and no abnormality in the cerebrospinal fluid was detected. Motor and sensory nerve conduction velocities of the lower limbs and somatosensory evoked potential could not be detected. The motor activity subsequently showed gradual recovery, although standing and walking could not be achieved. Sural nerve biopsy performed 3 years after the onset showed severe reduction of the number of myelinated large-diameter fibers, thin myelin in almost all fibers and cluster formation of myelinated small-diameter fibers, indicating primary axonal degeneration with regeneration. We report here for the first time the neuropathological changes in peripheral nerves during the chronic stage of CIP in children.

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies.Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

To determine the usefulness of quantitative measurement of bone atrophy in the diagnosis and the long-term follow-up of patients with complex regional pain syndrome (CRPS). The bone-sparing effect of a 5-hydroxytriptamine (5-HT2) antagonist was also studied. Bone mass was measured by computerized micro-densitometry at the middle position of the second metacarpal. The effect of repeated stellate ganglion blocks (SGBs) three times per week with mepivacaine (n = 11), administration of a 5-HT2 antagonist (sarpogrelate hydrochloride, 300 mg a daypo) (n = 12), and combined therapy (n = 10) were compared by micro-densitometry and conventional visual analogue scale (VAS) for analgesia after three months of treatment. In CRPS patients, metacarpal index (cortical bone thickness), maximum bone density (cortical bone density), minimum bone density (trabecular bone density), and average bone density were reduced on the affected side (14.1%, 12.1%, 25.0% and 19.3% respectively). The rate of reduction in bone mass correlated with the duration of the disease (P < 0.05). Therapy with the 5-HT2 receptor antagonist (with or without repeated SGBs) decreased pain intensity (from 6.10 to 3.81 with SGB, from 6.30 to 2.91 without SGB, respectively;P < 0.01) and bone atrophy evaluated by micro-densitometry (P < 0.05). In contrast, repeated SGBs alone reduced pain intensity (from 6.30 to 2.91;P < 0.01) but did not ameliorate bone atrophy. Bone micro-densitometry is useful in the assessment and follow-up of CRPS and for evaluation of treatment. The 5-HT2 antagonist, sarpogrelate hydrochloride, is a promising treatment for CRPS patients.

Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35–39 weeks; birth weights, 1880–3572 g) with total asphyxia were examined. In all subjects, neonatal cortical MR lesions were limited to the hippocampus with highlighting on T1-weighted imaging (T1-WI). The neonatal MR lesions of the cerebral white matter were limited to the white matter between the insula and putamen in four infants, and were diffusely involved in two infants. The ventral lateral nucleus of the thalamus was hyperintense on T1-WI in all of the subjects. Other nuclei in the thalamus, the globus pallidus and the putamen were involved in neonatal MR images of all subjects. High intensity areas on T2- weighted imaging were observed at the dorsal areas in the midbrain, pons and medulla oblongata in all or most of the subjects at the neonatal period. Also, high intensity areas on T1-WI were observed in the tegmentum of the pons and the midbrain in five cases. Neonates with total asphyxia had lesions mainly in the tegmentem of the brainstem, thalamus, putamen and globus palludus. Some of the infants had extensive lesions of the white matter.

Transcranial magnetic stimulation (TMS) has been used to describe cortical plasticity after unilateral cerebral lesions. The objective of this study was to find out whether cortical plasticity occurs after bilateral cerebral lesions. We investigated central motor reorganization for the arm and leg muscles in cerebral palsy (CP) patients with bilateral cerebral lesions using TMS. Seventeen patients (12 with spastic diplegia, 1 with spastic hemiplegia, and 4 with athetoid CP) and 10 normal subjects, were studied. On CT/MRI, bilateral periventricular leukomalacia was observed in all spastic patients with preterm birth. In two normal subjects, motor responses were induced in the ipsilateral tibialis anterior, but no responses were induced in any normal subject in the ipsilateral abductor pollicis brevis (APB) or biceps brachii (BB). Ipsilateral responses were more common among CP patients, especially in TMS of the less damaged hemisphere in patients with marked asymmetries in brain damage: in 3 abductor pollicis brevis, in 6 BBs, and in 15 tibialis anteriors. The cortical mapping of the sites of highest excitability demonstrated that the abductor pollicis brevis and BB sites in CP patients were nearly identical to those of the normal subjects. In patients with spastic CP born prematurely, a significant lateral shift was found for the excitability sites for the tibialis anterior. No similar lateral shift was observed in the other CP patients. These findings suggest that ipsilateral motor pathways are reinforced in both spastic and athetoid CP patients, and that a lateral shift of the motor cortical area for the leg muscle may occur in spastic CP patients with preterm birth.

We investigated the relationship between serial cranial CT findings and prognoses in 11 children after near-drowning. These patients were rescued after heart arrest for more than 10 minutes and all comatose on admission. CT scans were performed within 2 weeks, at 3 weeks-1 month, 2-4 months and more than 5 months after admission. Characteristics of CT findings and prognoses were classified into four groups. Group 1: low density areas in thalami, basal ganglia and cortical white matters within 2 weeks (three cases; one died, two became vegetative). Group 2: enlargement of the third ventricle at 3 weeks-1 month, and atrophy of pons at 2-4 months (three cases; severe quadriplegia and mental retardation). Group 3: enlargement of the third ventricle at 3 weeks-1 month, but atrophy of pons not observed at 2-4 months (three cases; mild motor disabilities and mild mental retardation). Group 4: enlargement of third ventricle not observed at 3 weeks-1 month (two cases; neither paralysis nor mental retardation).

A 6-year-old boy with striatonigral degeneration had an episode of neuroleptic malignant syndrome after an upper respiratory infection. Dantrolene treatment was successful. Some reports have demonstrated that anesthetic and antipsychotic agents lead to neuroleptic malignant syndrome in disorders of the basal ganglia. However, neuroleptic malignant syndrome attributable to a respiratory infection has not previously been reported. Our patient illustrates the potential morbidity of neuroleptic malignant syndrome in patients with striatonigral degeneration.

These 62 patients with the Kabuki make-up syndrome (KMS) were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum of KMS and to learn about its cause. Among various manifestations observed, most patients had the following five cardinal manifestations: 1) a peculiar face (100%) characterized by eversion of the lower lateral eyelid; arched eyebrows, with sparse or dispersed lateral one-third; a depressed nasal tip; and prominent ears; 2) skeletal anomalies (92%), including brachydactyly V and a deformed spinal column, with or without sagittal cleft vertebrae; 3) dermatoglyphic abnormalities (93%), including increased digital ulnar loop and hypothenar loop patterns, absence of the digital triradius c and/or d, and presence of fingertip pads; 4) mild to moderate mental retardation (92%); and 5) postnatal growth deficiency (83%). Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenital heart defects (31%), such as a single ventricle with a common atrium, ventricular septal defect, atrial septal defect, tetralogy of Fallot, coarctation of aorta, patent ductus arteriosus, aneurysm of aorta, transposition of great vessels, and right bundle branch block. Of the 62 KMS patients, 58 were Japanese, an indication that the syndrome is fairly common in Japan. It was estimated that its prevalence in Japanese newborn infants is 1/32,000. All the KMS cases in this study were sporadic, the sex ratio was even, there was no correlation with birth order, the consanguinity rate among the parents was not high, and no incriminated agent was found that was taken by the mothers during early pregnancy. Three of the 62 patients had a Y chromosome abnormality involving a possible common breakpoint (Yp11.2). This could indicate another possibility, i.e., that the KMS gene is on Yp11.2 and that the disease is pseudoautosomal dominant. These findings are compatible with an autosomal dominant disorder in which every patient represents a fresh mutation. The mutation rate was calculated at 15.6 X 10(6).

We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls.

A female infant with distal 15q trisomy and terminal 12q monosomy is reported. This is the first oriental case. Facial dysmorphism in this case is similar to that of previous cases. Additional features are severe brain malformation including Dandy-Walker malformation and agenesis of the corpus callosum, and multiple limb anomalies. These features differed from those of previous cases with the trisomy 15q and may be due to terminal 12q monosomy.

Clinicopathological and cytogenetic findings in a female infant with 46,XX,i(18q) were reported. She had mixed stigmata of both trisomy 18 and monosomy 18p. Most clinical and pathological findings in this case were compatible with trisomy 18, but several findings such as round flat face, flat nasal bridge, large ears, short webbed neck, low posterior hair line and costovertebral anomalies were compatible with monosomy 18p. Neuropathological study including Golgi study showed minimal dysmorphic abnormalities as seen in trisomy 18.

Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.

A comparative study of intracranial imaging and brain pathology in cases of trisomy 18 and 13 was performed. Computed tomography (CT) and ultrasonography (US) revealed disproportional dilatation of the lateral ventricles, a wide Sylvian fissure and a large extracerebellar space with a small cerebellum in each case. In addition, it was characteristic that the occipital poles of the cerebrum protruded in the infero-posterior direction in trisomy 18, and the pontine basis was relatively wide in trisomy 13. The brain pathology in trisomy 18 and 13 demonstrated that the large extracerebellar space is due to the cerebellar dysplasia and protruding occipital poles, the wide Sylvian fissures due to the temporal lobes or external capsular dysplasia, and the relatively wide pontine basis due to meningeal glioneuronal heterotopia. Thus, the characteristic intracranial image in trisomy 18 and 13 suggest microdysgenesis of the brain and might be useful for understanding the pathological structure of the central nervous system in these conditions.

A cytogenetic survey was performed on 172 patients with mental retardation and epileptic seizures. Chromosome abnormalities were detected in 27 patients consisting of 18 out of 36 patients with more than 3 dysmorphic features (MCA group) and 9 out of 136 patients with less than 2 dysmorphisms (non-MCA group). Chromosome abnormalities were frequently found in cases with neonatal seizures, West syndrome, Lennox syndrome and Grand mal seizures, but not in partial seizure or pure absence seizures. It is significant that 9 chromosome abnormalities including 4 rings were unexpectedly detected, and 6 of these cases developed intractable seizures. The incidences of seizures in the patients with various types of chromosome abnormalities were presented along with a review of the literatures. The incidence of seizures in each chromosome abnormality varied from 100% to 0% and was not correlated with the degree of dysmorphism or lethality. Therefore, a specific chromosome site closely related with epileptogenesis may be supposed.