Effect of Sunlight Exposure on Bone Mineral Density in Children with Severe Disability.

The aim of this study was to determine the efficacy of sunlight exposure for increasing bone mineral density (BMD) in children with severe disability. The subjects were five children with severe disability, aged 6 to 8 years. BMD was measured at baseline and after 3, 6, 9, and 12 months of starting sunlight exposure. All caregivers of patients were instructed to create opportunities to stay outdoors. Daily sunlight exposure time was defined as hours of staying outdoors. Mean hours of sunbathing per day were calculated at baseline and after 3, 6, 9, and 12 months of starting sunlight exposure. Sunlight exposure tended to be longer after starting than before starting in all patients, but the difference was not significant (p = 0.052). Along with the increase in sunlight exposure, BMD increased significantly after the start of sunlight exposure in all patients (p < 0.01). The serum values of total alkaline phosphatase and intact parathyroid hormone were significantly decreased and that of 25-hydroxyvitamin D was significantly increased 12 months after starting sunlight exposure. No patients had bone fractures after the start of sunlight exposure. These results suggest that sunlight exposure increased BMD, and that this may reduce the risk of bone fracture in children with disability.

Epilepsy in a patient with focal dermal hypoplasia.

Focal dermal hypoplasia is an X-linked, dominantly inherited syndrome of mesodermal and ectodermal deficits. Although profound dysplasia of connective tissue, especially in the skin and skeleton, inarguably constitutes a predominant feature of focal dermal hypoplasia, the disease occurs in a variety of organs of ectodermal and mesodermal origin. However, seizure disorders with focal dermal hypoplasia and findings of cranial magnetic resonance imaging in focal dermal hypoplasia were not previously reported. We report on a 5-year-old girl with focal dermal hypoplasia, refractory epilepsy, and suspected dysplasia of the cerebellar cortex. This case may represent a novel expression of focal dermal hypoplasia as a seizure disorder and dysplasia of the cerebellar cortex. Hence seizure disorders and dysplasia of the cerebellar cortex need to be considered in patients with focal dermal hypoplasia.

Saccade eye movements as a quantitative measure of frontostriatal network in children with ADHD.

BACKGROUND: Evidence of poor inhibition in attention deficit hyperactivity disorder (ADHD) comes primarily from neuropsychological tasks and neuroimaging studies, many of which have revealed structural/functional abnormalities of the frontostriatal network with opposing functions of disinhibition and inhibition. Studies of saccades have therefore contributed to the understanding of the pathophysiological basis of ADHD. OBJECT: To investigate the development of reflexive/voluntary control of saccades in normal children, compare saccade parameters between ADHD and control groups, and clarify dysfunctional nervous systems in ADHD. METHODS: Subjects comprised 50 normal subjects (6-35 years), 19 ADHD patients (6-11 years) and four patients with frontal lesions (13-15 years). Saccade latency and accuracy were computed in all saccade tasks, while percentage of anticipatory errors (PAE) was determined in memory-guided saccade task, and percentage of direction errors (PDE) was determined in antisaccade task. RESULTS: In normal controls, significant correlations were observed between saccade latency, saccade accuracy, error rates and age. Significant differences existed between ADHD and 6- to 8-year-old controls in saccade latency and accuracy. The ADHD group showed significantly higher PAE and PDE rates than controls. Patients with frontal lesions showed significantly higher PAE and PDE. CONCLUSIONS: These results suggest that saccade eye movements do not fully mature until adolescence, and that ADHD patients show dysfunction in "response inhibition", which is modulated by the frontal lobe, particularly the prefrontal cortex, cingulate cortex and basal ganglia.

[Study of saccadic eye movement in children with attention deficit/hyperactivity disorder].

Recent studies have postulated that impairment of behavior inhibition, leading to executive dysfunction in future, is the fundamental pathophysiology of attention deficit/hyperactivity disorder (AD/HD). To evaluate this, we studied two saccadic eye movement tasks: visual- and memory-guided, in 8 children with AD/HD (combined type;mean age, 9.1 years, range 6 approximately 11 years) and 16 healthy children (mean age, 9.2 years, range 6 approximately 12 years). In the memory-guided saccade task, reflexive anticipatory errors were more frequently observed in AD/HD than in controls. The children with AD/HD showed longer response latency in the memory-guided saccade task, and greater coefficient of variation in both the latency and amplitude in both the tasks. These results suggested that saccade tasks, especially the memory-guided task, may be useful in clarifying pathophysiology of AD/HD.

[Case of severe motor and intellectual disabilities presenting with partial central diabetes insipidus triggered by infection].

We report a 42-year-old woman with severe motor and intellectual disabilities (SMID) who showed partial central diabetes insipidus during severe pneumonia. Serum sodium levels were previously within the upper normal range from 140 to 147 mEq/L. During pneumonia, however, serum sodium rose rapidly to reach 185 mEq/L. The daily urinary volume exceeded the daily intake of water. Nasal administration of 1-desamino-8-D-arginine vasopressin (DDAVP) reduced the daily urinary volume and the serum sodium level to normal ranges. Consequently, we diagnosed her as having central diabetes insipidus (DI). She required a smaller dose of DDAVP (2.5 microg/day) than usual DI (5-15 microg/day) to maintain normal urinary volume and the serum sodium level for seven months. After the nasal administration of DDAVP was discontinued, the serum sodium levels again returned to within the upper normal range. A water deprivation study demonstrated poor elevation of both plasma antidiuretic hormone (ADH) level (range, 0.5-2.0 pg/ml) and urine osmolarity (peak level, 552 mOsm/kgH2O) despite the elevation of plasma osomolarity, suggesting latent partial central DI. Water balance and serum electrolyte levels should be closely monitored in cases of SMID.

[Ictal SPECT and paired stimulation SEP recovery curve in a patient with paroxysmal kinesigenic choreoathetosis].

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare and benign disorder with its onset in childhood. PKC generally improves with age, and its pathophysiology has not been revealed. We recorded both ictal and interictal SPECT in a 14-year-old girl with PKC. Ictal SPECT showed a significant decrease in blood flow in the caudate nucleus contralateral to the limb showing an involuntary movement. We also examined paired-pulse stimuli somatosensory evoked potential (SEP) of the same patient. Recovery pattern of P25 and N33 components was normal and comparable to 5 healthy volunteers, suggesting the absence of cortical hyperexcitability. These results suggest dysfunction or immaturity of the indirect pathway of basal ganglia in PKC, as well as the hyperexcitability of the descending pathway.