[The early rehabilitation in children with Down. Paying special attention to shuffling and comorbidities of developmental disorder].

OBJECTIVE: There have been many reports on the effects of early rehabilitation in children with Down syndrome, which have demon- strated that early intervention improves motor skill acquisition and prevents a shuffling gait in these children. With regard to the mental development and mental health of these children, they are known to be friendly and social but some experience difficulties with nursing. Recently there have been a few reports on comorbidities of developmental disorders in Down syndrome. In the present research we studied both the motor and mental developments in children with Down syndrome, paying special attention to the shuffling gait and the comorbidi- ties of developmental disorder. METHODS: Clinical records of 121 children with Down syndrome (age, 1-11 years; mean age, 3.8 years), who visited the Yokohama rehabilitation center, were investigated. RESULTS: Despite early intervention, we found that 14 patients (11.9%) exhib- ited a shuffling gait. Concerning the comorbidities of the psychiatric developmental disorder, 21 patients (17.4%) had autism spectrum disorder (ASD)-like characteristic. The children with a shuffling gait appeared slow with regard to motor developmental milestones. They also had ASD-like characteristics. CONCLUSIONS: Children with Down syndrome needed early rehabilitation not only for its motor skill effects but also for mental support. In spite of early intervention, those with a shuffling gait needed special care owing to the comorbidities such as ASD-like characteristics. More research is needed to establish the prognosis of Down syndrome.

Brain MRI findings of older patients with Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter. The same signal change was also present in the pontine base. The other patient, a 37-year-old woman, showed T2-high lesions in the bilateral putamina and the parietal periventricular white matter. There was prominent atrophy of the cerebellum and brainstem in this latter case. Both cases showed cortical atrophy with frontal predominance, with accompanying dilatation of the lateral ventricles. Hypoplastic corpus callosum was also present in both cases. Cerebral atrophy with ventricular dilatation has been often described in PKS cases, but many of the MR findings in the present patients have never been reported. Such findings may appear with advancing age in PKS. Since 12p mosaicism is rarely detected in peripheral blood lymphocytes, examination of buccal mucosal cells with fluorescent in situ hybridization method is preferable for the diagnosis of PKS. Recognition of the characteristic features on cranial MR imaging, in addition to the characteristic facial appearance in adulthood, should prompt the correct diagnosis of adult PKS patients.

Laryngeal dystonia in xeroderma pigmentosum.

We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases. This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications.

[Disturbed respiratory cycle accompanying hypoxic-ischemic encephalopathy].

We report the case of a 2-year-old boy who experienced total asphyxia at 4 months of age, and suffered abnormalities at specific phases of the respiratory cycle. The patient was bedridden due to severe tetraplegia and showed little response to external stimuli. He has been tube-fed since the initial asphyxia and a tracheotomy was performed after recurrent hypoxic episodes as a result of the respiratory dysfunction. Upon examination, his respiratory pattern was characterized by arrest during the inspiratory phase with a possible over-riding secondary inspiration. The respiratory pause at the inspiratory phase was markedly prolonged during an episode of pulmonary infection, resulting in recurrent cyanosis that necessitated artificial ventilation. The "second" inspiration typically occurred during the mid- or late-inspiratory phases, with this pattern often shown to be variable after epileptic seizures. The characteristic breathing of this patient suggested that difficulty in forming a normal respiratory cycle, other than during periods of hypoventilation or apnoea, could be a significant respiratory dysfunction following asphyxiation. Strategies for the management of such patients should be carefully designed after close observation of breathing patterns within the respiratory cycle, and with consideration for the influence of epileptic seizures and other inputs from somatic afferents.

Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?

We report the autopsy case of a 40-year-old woman with severe intellectual and motor disabilities, who showed calcification in the cerebellum and pons but not in the basal ganglia on CT scan, and died of intracranial hemorrhage due to intractable hypertension. At autopsy, numerous calcium deposits were noted in the cerebellar cortex, the dentate nucleus, the cerebellar white matter and the ventral pons. These deposits were distributed both in the neuropil and the white matter, but rarely within the arterial walls or in contact with capillaries. This weak relationship between calcification and the blood vessels, in addition to the paucity of basal ganglia calcification, is in contrast to the findings with other disorders involving intracranial calcification, including Fahr's disease and calcium metabolism disorders. Immunohistochemistry revealed intense staining of calbindin-D28K and parvalbumin at sites of calcium deposits both in the present case and in a case of pseudohypoparathyroidism, whereas these proteins were not localized to calcium deposits in the cerebellum of a Fahr's disease brain. We propose that the present case may represent a distinct entity among diseases characterized by idiopathic intracranial calcification. In addition, calcium-binding proteins may be involved in the calcification process in some cases with intracranial calcification.

Stability of species composition of fecal bifidobacteria in human subjects during fermented milk administration.

Bifidobacteria play important roles in human health. However, the influence of exogenous factors on species composition of fecal bifidobacteria is still unclear. The objective of this study was to investigate the effects of fermented milk administration on the species composition of fecal bifidobacteria by molecular biological methods. Fermented milk containing Lactobacillus helveticus was given to seven healthy subjects, and the probiotic effect on human fecal microflora was demonstrated as a significant increase of bifidobacteria and decrease of clostridia by the conventional culture method. Species composition of bifidobacteria in the human fecal microflora was then investigated directly in fecal specimens by the PCR detection method. The species composition of bifidobacteria in the fecal specimens did not change significantly throughout the study period. These findings suggest that the species composition of bifidobacteria remains stable even when fecal microflora is improved by food management.