Is hiragana decoding impaired in children with periventricular leukomalacia?

BACKGROUND: There are few studies on hiragana reading skill and phonological awareness in Japanese schoolchildren with periventricular leukomalacia (PVL). METHODS: Three seven-year-old children with PVL who had no intellectual disabilities or dysarthria were recruited. Their perinatal information, brain magnetic resonance image (MRI) at term equivalent age, accompanying neurodevelopmental disorders, ophthalmologic features, Kaufman Assessment Battery for Children (K-ABC), a hiragana reading test (four tasks), and a phonological awareness task (mora reversal tasks) were analyzed. RESULTS: Patient (Pt) 1 and pt2 were male. Pt2 and pt3 were siblings of triplets. Their gestational age was 28 or 32 weeks, and their birth weights were 1196, 1554, and 1848 g, respectively. Their brain MRI revealed cystic or non-cystic periventricular white matter injury involving the deep white matter at the trigone of both lateral ventricles. Pt1 had attention-deficit/hyperactivity disorder and pt3 had pervasive developmental disorder not otherwise specified. All patients had strabismus with spared best-corrected visual acuity. Scores of Reading/Decoding in K-ABC ranged from 89 to 99. As for the single mora reading task or the non-word reading task in the kana reading test, Z scores of their reading time ranged from 2.3 to 5.9 compared to control children. Pt1 and pt3 made significant errors in the mora reversal task of three-mora words, whereas all patients could answer all words correctly in the mora reversal task of two-mora words. CONCLUSION: All children showed significantly prolonged reading time despite their adequate letter recognition. Two patients showed delayed phonological awareness. It was suggested that hiragana decoding impairment due to subcortical and/or cortical injury related to PVL affected their reading ability.

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.

Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported. Here, we report another family with Arts syndrome. The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss. Both central nervous system involvement and peripheral neuropathy were demonstrated. His three maternal uncles had died before the age of 3years. A genetic analysis of PRPS1 revealed a novel missense mutation, c.367C>G (p.His123Asp). PRPS enzymatic activity was markedly reduced in the patient. His mother was supposed to be an asymptomatic carrier. Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance.

A follow-up survey on seizures induced by animated cartoon TV program "Pocket Monster".

PURPOSE: To identify the short-term outcome of patients who had seizures while watching an animated cartoon TV program, "Pocket Monster," on December 16, 1997. METHODS: One and three years after the incident, questionnaires were sent to physicians of each patient about seizure recurrence, EEGs, and medication. RESULTS: Among 103 patients in whom epileptic seizures occurred during the TV program and information on the outcomes was available, 25 (24%) patients had a history of unprovoked seizures before the incident (Epilepsy Group), and 78 (76%) did not (Non-Epilepsy Group). Twenty-three (22%) patients were reported to have seizures after the incident, and 15 of them had visually induced seizures. Patients of the Epilepsy Group had more seizure recurrence than did those of the Non-Epilepsy Group (56% vs. 9%; p < 0.0001), either for unprovoked (44% vs. 4%; p < 0.0001) or visually induced seizures (28% vs. 9%; p < 0.05). Of nine patients of the Non-Epilepsy Group who had seizures after the incident, only three developed recurrent unprovoked seizures. In the Non-Epilepsy Group, no difference was found in seizure recurrence between patients in whom valproate (VPA) was prescribed immediately after the incident and in those without medication (one of five (20%) vs. seven of 73 (10%); p > 0.05). EEG was performed at least once in 98 patients after the incident. Photoparoxysmal response (PPR) was present in 45 (46%) patients, and spontaneous epileptiform discharges, in 49 (50%). PPR did not have any correlation with recurrence of seizures, neither spontaneous nor visually induced seizures, whereas spontaneous epileptiform discharges showed a good correlation with seizure recurrence (34% vs. 8%; p < 0.01), including visually induced seizures (24% vs. 2%; p < 0.01). CONCLUSIONS: Short-term outcomes showed that 70 (68%) of 103 patients who had a seizure during the incident had no seizures before and during < or = 3 years of follow-up.