Pediatric neurotransmitter disease (PND) encompasses a range of rare genetic disorders that affect the metabolism of neurotransmitters in children. While these neurological disorders are often studied independently of each other, they all manifest central nervous system symptoms and require proper diagnosis and intervention at early stages. Since clinical symptoms of PND can be nonspecific, the conditions are often under-diagnosed, leaving patients without a chance to receive effective treatment. Envisioning PND as a whole, a comprehensive research effort is underway for a better understanding of pathophysiology and epidemiology in Japan, and toward the establishment of diagnostic criteria. The early diagnosis and development of new effective therapies are of urgent importance for these rare disorders that are not covered by newborn mass screening. For rarer forms of PND, at the same time, it is important to encourage recognition and understanding of the disease concept among healthcare professionals.

View full abstract

  This study examined the effects of a rich, emotionally-satisfying childbirth experience (CBE) of mothers on the behavior of school-age children using longitudinal data measured from immediately to 7 years and 6 months after birth. The results of structural equation modeling revealed the following: 1) giving birth in a midwifery center enhances emotional satisfaction with CBE, 2) a rich CBE of mothers was associated with parental warmth, 3) parental warmth during early childhood increased prosocial behavior and reduced behavioral problems in school-age children, and 4) temperamentally difficulty in early childhood were linked to later behavioral problems in school-age children. Thus, a rich CBE and parental warmth were suggested to be factors contributing to the good behavior of school-age children.

View full abstract

  Objective: The nutritive evaluation and the serum carnitine values were measured for persons with severe motor and intellectual disabilities with enteral (tube) feeding.
  Methods: In Shimada Rehabilitation Center, twenty one people who had serum albumin levels of 3.4 g/dl or less, and were taking nutrition with enteral (tube) feeding, were tested. Body weight, blood samples, and serum carnitine levels were measured.
  Results: The total carnitine value was less than the standard value in 19 patients. The total carnitine value decreased in the group taking valporate sodium (VPA), compared to the values from the group non-taking VPA.
  Conclusions: From our evaluation, we think that daily carnitine supplements is essential for persons with sever motor and intellectual disabilities taking VPA to maintain carnitine levels in the blood, and regular urine test should be done for earlier detection secondary lack complications from the secondary lack of carnitine.

View full abstract

  Objective: We investigated the frequency and characteristics of reading disorder comorbid with pervasive developmental disorder (PDD) or attention-deficit/hyperactivity disorder (AD/HD).
  Methods: Articulation times and reading errors were evaluated using four Japanese reading tasks (a monomoraic syllable reading task, a word reading task, a non-word reading task, and a short sentence reading task) in 31 children with PDD (22 boys and 9 girls) aged 6-14 years (average 9.5 years) and 39 children with AD/HD (33 boys and 6 girls) aged 6-12 years (average 9.6 years). Poor readers (PRs) were identified when articulation times were significantly longer than those of typically-developing children (≥2.0 SD) for two or more reading tasks, and non-PRs were identified when articulation times were within normal range (<2.0 SD) for all reading tasks.
  Results: Eight children with PDD (25.8%) and 17 children with AD/HD (43.6%) were identified as PRs. For 13 of the 70 subjects, the chief complaints were difficulties in reading and writing words at their first visit to our hospital. All 13 of these subjects had AD/HD, and twelve of these were additionally identified as PRs. Among the remaining 26 children with AD/HD, five (19.2%) were identified as PRs. In AD/HD children, PRs made significantly more reading errors and had lower IQ scores than did non-PRs, but in PDD children, there were no significant differences between these two groups regarding IQ or reading errors. An analysis using the Clinical-Symptoms-Checklist for Reading and Writing Words revealed that PRs in our study showed difficulties in reading words in daily life.
  Conclusions: PRs in our study had reading disorders, which would, in turn, mean that reading disorder was often comorbid with PDD or AD/HD. These results strongly indicate the necessity of testing for the presence of reading disorder in children with PDD or AD/HD.

View full abstract

  The patient was a 2-month-old female infant born at 41 weeks and 2 days of gestation presenting multiple arthrogryposis, severe muscle hypotonia and respiratory distress with difficulty in feeding. She suffered from repeated complications with aspiration pneumonia. On admission to our hospital, she exhibited fasciculation and absence of deep tendon reflexes. Examination of the motor nerve conduction velocity (MCV) revealed no muscle contraction. Deletions of the SMN and NAIP genes were noted. Based on severe clinical course and disease development in utero, she was given a diagnosis of spinal muscular atrophy (SMA) type 0 (very severe type).
  Arthrogryposis and disappearance of MCV are exclusion criteria for SMA. However, the clinical course of the infant was very severe and included such exclusion items. Consequently, when an infant presents muscle hypotonia and respiratory distress, SMA must be considered as one of the differential diagnoses, even though arthrogryposis is an exclusion criterion for SMA.
  We discuss this case in relation to the few extant reports on SMA type 0 in Japanese infants in the literature.

View full abstract

  We experienced a case of DiGeorge syndrome with left internal carotid artery absence probably causing one-and-a-half syndrome. MR angiogram demonstrated the apparent absence of the left internal carotid artery and consequently abnormal blood supply to the left middle cerebral artery, which was derived from the basilar artery via the left posterior communicating artery. The patient also showed both an extremely narrow carotid canal on the left side and a very fine vessel extending to the terminal of the left internal carotid artery. Therefore, we regarded this abnormality as severe hypoplasia of left internal carotid artery and supposed that this hypoplasia had originated in maldevelopment of the third aortic arch based on the coexisting lower bifurcation of the right common carotid artery. Since the lesion of one-and-a-half syndrome is restricted to the pontine tegmentum, we speculated that it had resulted from ischemia of the basilar artery area during the embryonic period associated with the absence of the internal carotid artery. To our knowledge, DiGeorge syndrome has never been reported as a complication of internal carotid artery absence. The patient did not demonstrate either chromosome 22q11.2 deletion or TBX1 gene mutation, which is considered the gene responsible for 22q11.2 deletion syndrome. Therefore, the etiology of DiGeorge syndrome in this case remains unclear.

View full abstract

  We report three pediatric cases of group A coxsackievirus-associated encephalitis/encephalopathy. A 4-year-old girl with coxsackievirus A6 infection presented with an exanthem on her upper body on the fourth day of fever. The following day, she developed an episode of convulsions, and subsequently experienced sudden cardiopulmonary arrest. A head computed tomography scan revealed severe brain edema. Two patients with neurological sequelae had initially presented with status epilepticus that required intravenous barbiturate treatment. Both cases had high-signal-intensity lesions on their diffusion-weighted brain magnetic resonance images. A 5-year-old girl with subcortical white matter lesions was diagnosed with acute encephalopathy with febrile convulsive status epilepticus, and a 2-year-old boy with bilateral hippocampal lesions was diagnosed with parainfectious limbic encephalitis. These findings indicate that group A coxsackievirus is a causative agent of pediatric encephalitis/encephalopathy; moreover, the prognosis may be poor in some cases.

View full abstract

[in Japanese]

View full abstract