Nineteen patients with severely handicapped children were divided into 3 groups; tube-fed patients (group 1, n=8), oral-fed patients with dysphagia (group 2, n=3) and oral-fed patients (group 3, n=8). Clinical symptoms, past history, cranical CT, EEG, blink reflex and auditory brainstem response were evaluated in these patients. All patients of group 1 and 2 could not control head or sit by themselves. They needed naso-oral suction. However, nasal airway, intubation and tracheostomy were necessary only in group 1 patients. Five out of 8 patients of group 3 could control head and sit by themselves. No one needed naso-oral suction. CT revealed ventricular dilatation or prominent destructive lesions in group 1. However, patients of group 2 and 3 showed the lesions of mild to moderate degree. EEGs showed poorly developed background activities or electrical status epilepticus in group 1, while they showed relatively well-developed background activities with less prominent paroxysmal discharges in group 2 and 3. R 2 component of blink reflex was absent bilaterally in 90% patients of group 1 and 2, while unilateral R 2 at least was present in group 3. Feeding problems in severely handicapped children were affected by combination of cerebrum and brainstem involvements. Examination of cranial CT, EEG and blink reflex was useful to determine the method of feeding.
A new speech development test was prepared for one-year-old infants. The test consists of three parts: test I, II, and III The overall test originally comprised a total of 98 test items (47 for Test I, 32 for Test II and 19 for Test III). Test I (for pre-speech language) §1 Situation of language i) Differentiation of information to be communicated ii) Comprehension of speech-related situation (Initiation of “signe”, and comprehension of objects and events by means of speech) §2 Development of symbolizing function (Development and transformation of ability to handle and manipulate objects) §3 Representing the function of language (First utterance, and acquisition of meaningful words after first utterance) Test II (for speech comprehension) Ability to name concrete objects, and to relate objects to their uses and functions; comprehension of words representing spatial concept such as quantity, number and dimensions, as well as words representing color or position. Test III (for speech expression) Ability to verbalize or name concrete objects, and to verbalize the conduct and state of a person. For infants, language is an objective to be achieved, while for adults it is the mean of thinking and communicating. Despite this difference the scope of this test comprises two major aspects common to the language-related experience of infants and of adults: pragmatics and vocabulary.
The test result of language ability for infants of second year of life was examined statistically. In descriptive statistics, average score, standard deviation, and proportion of right answers for all test items for each age group subjects were included. Then factor analysis was carried out to determine the structural characteristics of the test. The analysis revealed that test pertains of the following five stages. First two stage of five were overlapped with the previously reported result for pre-speech language test for infant within one year of life. Then, the stage was determined as follows; (4) Initial language acquirement and differentiation of language functions (5) Speech increasing stage (increase of spontaneously uttered words and understood words related to persons and objects) (6) Differentiation of expressed words (expression of words differentiated to suit objects) (7) Understanding of words representing actions or conditions (8) Understanding of words representing uses or functions, and verbalization of words representing actions or movements In spite of the fact that six and seven stage represent the same developmental level in term of chronological age, they were distinctive into those which achieve speech understanding earlier (stage 7), and others whose development centers on speech expression (stage 6). Then reliability and validity was performed. Reliability:(1) As to homogeneity, the reliability coefficients were calculated on the 60 test items by Spearman-Brown's odd-even method. (2) As to inter-rater reliability, Pearson's product movement correlation coefficient was calculated based on the results produced by two separate experienced testers. (3) As to test stability, reliability was determined through repetitive testing. Correlation coefficient was determined for each 60-day interval between age 0 and 840 days. These results suggested that the test was clinically available well. Varidity:(1) As to predictive varidity, it was determined by the same way of repetitive testing. The correlation was higher on the age groups of 300 to 720 days. (2) As to content varidity, test content was explained, then a two dimension array was made from test items, composed of age groups and aspects of expressive and comprehensive language. It proved that the test items have an appropriate distribution in it.
Five cases diagnosed as having ataxic cerebral palsy were presented with their brain imaging. Case 1, a 3-year-old-girl had been floppy since 7 months of age and began ataxic walk with spastic legs from 18 months of age. MRI revealed generalized atrophy of cerebellum (especially in anterior superior part) and slight atrophy of pons. Her mother also had ataxia with spastic legs of early onset. She and her mother were thought to have an early-onset inherited non-progressive cerebellar ataxia syndrome. Case 2, a 8-year-old-girl had ataxic walk since 17 months of age. MRI revealed cerebellar atrophy especially in anterior superior part. Case 3, a 10-year-old boy was floppy since 4 months of age and suspected as ataxic at 4 years of age. He could walk only with cruches. He had dwarfism and cataracts since 4 years of age. CT and MRI revealed generalized spinoponto-cerebellar atrophy. Final diagnosis was Marinesco-SjOgren syndrome. Case 4, a 10-year-old girl had opisthotonus and floppiness since 4 months of age. She could walk only with cruches. CT and MRI revealed generalized spino-ponto-cerebellar atrophy. Case 5, a 8-year-old boy showed head nodding and nystagmus since 4 months of age. He started ataxic gait at 8 years of age. He could vocalize only single sound for speech. MRI revealed cranium bifida and agenesis of anterior medullar velum. Ataxic cerebral palsy is the term often used to describe very different conditions, the clinical picture starts as hypotonia and changes into the ataxic symptoms in a few years. Some cases are hereditary origin, some cases are specific clinical syndromes and using the term of non-progressive ataxic syndromes (NPA) is becoming common. Cases 1 and 2 are included in the syndromes of congenital cerebellar ataxia (CCA) and cases 3, 4 and 5 are included in the dysequilibrium syndromes (DES). Cerebellar lesions especially in anterior superior part were found in CCA and generalized spino-ponto-cerebellar atrophy or severe vermian defect were found in DES in presented cases though the diagnosis of NPA and the differentiation of CCA and DES are essentially from clinical symptoms and developmental courses.
We aimed to quantify electroencephalogram (EEG) continuity for 24 hours in very premature infants. A total of 122 days of continuous two-channel EEG recordings were performed in 28 premature infants from 26 to 33 weeks of conceptional age (CA). None of the infants showed any evidence of neurological impairments during the course of their hospitalizations and showed normal neurological outcome. The 24-hour EEG recording was divided into 5.5-minute periods. The EEG of each period was classified into five EEG categories according to EEG continuity, and the percentage of each of them during the 24-hour recording was calculated. The percentages of continuous and continuous dominant EEG categories were increased with increasing CA. On the other hand, the percentages of discontinuous and discontinuous dominant EEG categories were decreased with increasing CA.
We followed 93 infants prospectively who were treated because of moderate and severe grades of cerebral coordination disturbances since less than 6 months of age. They were divided into 3 groups according to developmental prognosis at 4 years of age; normal 44, mental retardation 18, and cerebral palsy 31. We compared the postural findings in supine and prone position, and 7 postural reactions at the first examination with those at discharge about 50 days after the first examination. We assessed the changing pictures of postural findings as improved, not changed or worsened. We analyzed the relationship between the changing pictures of postural findings during the short period in early infancy and the developmental prognosis among the 3 groups. The normal group showed improvement in a larger number of items than the other two groups. The findings of cerebral palsied children showed poor improvement, and more postural reactions changed to be more pathologic than those in the other two groups. Among the cerebral palsied children, ambulatory cases showed better improvement than those who could not crawl. But we found no significant difference between ambulatory and crawling children. This study demonstrated that assessment of changing pictures of postural findings in early infancy was helpful to predict developmental prognosis.
We studied the clinical usefulness of I123-IMP SPECT in 50 pediatric patients with CNS disorders, which were categorized into the convulsive disorder group (n=20), the cerebrovascular disorder group (n=10), the acute encephalopathy or CNS infection group (n=10), the metabolic or degenerative disorder group (n=6), the congenital abnormality group (n=2) and the migraine group (n=2). The findings obtained were compared with those of cranial CT. I123-IMP SPECT revealed abnormal findings in 45 out of the 50 patients (90%), although cranial CT showed abnormal findings in only 24 patients (48%). This difference was statistically significant (p<0.01). In all groups except the migraine, we could find abnormal findings in more than 90% of the patients. Out of 28 patients without focal findings on the initial CT scanning, I123-IMP SPECT showed focal abnormalities in 26 patients (93%). Moreover in many patients with focal neurological abnormalities, we found focal abnormalities of I123-IMP SPECT related with neurological abnormalities of the patients. From these findings, we think I123-IMP SPECT might be better to CT scanning in examining a localized lesion. It was found that in many patients with focal abnormalities in CT scanning, I123-IMP SPECT showed larger abnormalities in CT scanning. By using I123-IMP SPECT we might be able to study the blood perfusional state surrounding the abnormal area shown by CT. In 3 patients with acute cerebrovascular disorders, I123-IMP SPECT revealed abnormal findings 3 to 11 days earlier than cranial CT. I123-IMP SPECT might be useful for early recognition of the pathological state. From these experiences, we concluded that I123-IMP SPECT was useful for studying the pathophysiology of CNS disorders in children.
We investigated the effect of long-term, low-dose ACTH in 13 patients (10 boys and 3 girls) with infantile spasms who were treated with low-dose ACTH (mean: 0.0081 mg/kg/day). Two patients (one boy and one girl) received this therapy twice because of relapse of tonic spasms. ACTH was injected intramuscularly every morning for 30 days, after which dosage was tapered. The mean observation period was 53.9 months. Complete cessation of seizures was attained in 13 of 15 treatment trials. In one trial, complete cessation was not attained but the number of attacks decreased to less than one-third of that before treatment. In only one trial was treatment not effective. EEG showed good response to this treatment. The side-effects of this therapy were hypertension in 6 patients, hypokalemia in 7, and emotional outburst in 7. Emotional outburst appeared during the early phase of therapy, while the other two side-effects appeared in the later phase and disappeared when ACTH-tapering was begun. Brain shrinkage observed on CT scan was mild in all trials. Five patients have had no relapse. The total dose of ACTH was significantly larger in the group with good outcome than in the group with poor outcome.
We described a 9-year-old boy with frontal lobe epilepsy presenting with gelastic seizures. CT-scan showed mild widening of the left sylvian fissure. Abnormal findings in the left frontal operculum were detected by both MRI and SPECT. Attacks mainly consisted of gelastic seizures with comfortable feeling followed by screaming with fear. Administration of anticonvulsants resulted in reducing the frequency and severity of seizures. Finally the patient had brief laughter attacks only. In the present case, the clinical course suggests that the gelastic seizures does not occur by way of the spreading of epileptic discharges to the temporal or hypothalamic region; rather it might occur as a focal symptom of the frontal region.
A 25-year-old woman with cerebral palsy of spastic quadriplegia and athetosis showed typical cardiac arrest encephalopathy on neuropathology. The etiology of cerebral palsy was perinatal origin including prematurity, asphyxia and hyperbilirubinemia. Ventricular premature beats had developed since about 20 years of age. Muscle tone also increased with aging and symptoms of vago-vagal reflex were occasionally observed after eating. At 25 years, cardiac arrest occurred and cardiopulmonary resucitation was done immediately. She remained unconscious with absent corneal reflex and irregular respiration. EEG or auditory brain stem response showed flat activity. She died of respiratory failure 53 days after the episode of cardiac arrest. Neuropathology showed bilaterally symmetrical necrosis in the superior colliculi, gracilis nuclei, cuneate nuclei and spinotrigeminal nuclei accompanied with severe necrosis in the cerebrum and cerebellum. These findings in this adult case of total asphyxia were compatible with those observed in total plus partial asphyxia in the neonates. This discrepancy may be due to difference in cerebral maturity. Children or young adults with athetotic type cerebral palsy have a high risk of sudden death. Sudden cardiac arrest seems to play an important role in sudden death of these patients.
Monozygotic twins with Smith-Lemli-Opitz syndrome who developed infantile spasms were presented. They were the result of the first full-term pregnancy of non-consanguineous parents. They had following abnormalities: marked growth and developmental retardation, congenital heart disease, light brown hair which is rare in Japanese, small dolichocephaly, hypertelorism, anteverted nostrils, micrognathia, hypospadias and shawl scrotum. The cranial MRI showed the delayed myelination of occipital lobe. As far as we could review published reports, we were unable to find other report on monozygotic twins having the Smith-Lemli-Opitz syndrome.
We experienced a 5-year-old girl, who had presented with nystagmus and psychomotor regression since 1 year old. No clinical diagnosis had been made despite various examinations including lysosomal enzymes and muscle biopsy. Her brain magnetic resonance imaging (MRI) revealed increased a T2 signal in bilateral cerebellar hemisphere. Recently this MRI finding was reported as a typical feature of infantile neuroaxonal dystrophy (INAD). Then we performed the second biopsy from her peripheral nerve, and diagnosed her as having INAD. It was suggested that MRI was a useful aid for the diagnosis of INAD.