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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.

This study investigated the effect of age on adaptive behavior and academic skill in autistic and mentally retarded children. Subjects were 47 autistic and 128 mentally retarded children from a special school. Cross-sectional comparisons were made between junior and senior groups using ratings obtained from teachers on adaptive behaviors and academic skills. We found that the levels of toilet training, eating skills, participation in group activities, and self-control in the autistic children improved significantly with age. The skills of number concepts in the autistic children also improved with age. However, these adaptive and academic levels were in general significantly lower than those of the mentally retarded children. The levels of initiative did not improve significantly in either the autistic or the mentally retarded children, and they were significantly lower in the autistic children. The implications of these findings in the context of our previous study on the changes of communication and maladaptive behaviors with age in the autistic children are discussed.

Mutations in ZFHX1B, encoding Smad-interacting protein 1 (SIP1), have been recently reported to cause a form of Hirschsprung disease (HSCR). Patients with ZFHX1B deficiency typically show mental retardation, delayed motor development, epilepsy, microcephaly, distinct facial features, and/or congenital heart disease, in addition to the cardinal form of HSCR. To investigate the breadth of clinical variation, we studied DNA samples from six patients with clinical profiles quite similar to those described elsewhere for ZFHX1B deficiency, except that they did not have HSCR. The results showed the previously reported R695X mutation to be present in three cases, with three novel mutations—a 2-bp insertion (760insCA resulting in 254fs262X), a single-base deletion (270delG resulting in 91fs107X), and a 2-bp deletion (2178delTT resulting in 727fs754X)—newly identified in the other three. All mutations occurred in one allele and were de novo events. These results demonstrate that ZFHX1B deficiency is an autosomal dominant complex developmental disorder and that individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels.

This study investigated the effect of age on communication and maladaptive behavior in autistic and mentally retarded children. Forty-seven autistic and 128 mentally retarded children in a special school served as subjects. The cross-sectional method was used to compare junior and senior groups, and ratings on communication skills and maladaptive behaviors were obtained from teachers. We found that the skills of comprehension and conversation in autistic children improved significantly with age, and speech improved somewhat. In spite of this improvement in communication skills, maladaptive behaviors in the autistic children other than hyperactivity did not change significantly with age. Withdrawal improved significantly with age in the mentally retarded children but not in the autistic children.