This study focuses on the early cerebral base of speech perception by examining functional lateralization in neonates for processing segmental and suprasegmental features of speech. For this purpose, auditory evoked responses of full-term neonates to phonemic and prosodic contrasts were measured in their temporal area and part of the frontal and parietal areas using near-infrared spectroscopy (NIRS). Stimuli used here were phonemic contrast /itta/ and /itte/ and prosodic contrast of declarative and interrogative forms /itta/ and /itta?/. The results showed clear hemodynamic responses to both phonemic and prosodic changes in the temporal areas and part of the parietal and frontal regions. In particular, significantly higher hemoglobin (Hb) changes were observed for the prosodic change in the right temporal area than for that in the left one, whereas Hb responses to the vowel change were similarly elicited in bilateral temporal areas. However, Hb responses to the vowel contrast were asymmetrical in the parietal area (around supra marginal gyrus), with stronger activation in the left. These results suggest a specialized function of the right hemisphere in prosody processing, which is already present in neonates. The parietal activities during phonemic processing were discussed in relation to verbal-auditory short-term memory. On the basis of this study and previous studies on older infants, the developmental process of functional lateralization from birth to 2 years of age for vowel and prosody was summarized.

Coloboma and various ocular abnormalities have been described in CHARGE syndrome, although the severity of visual impairment varies from case to case. We conducted a multicenter study to clarify the ophthalmic features of patients with molecularly confirmed CHARGE syndrome. Thirty-eight eyes in 19 patients with CHARGE syndrome and confirmed CHD7 mutations treated at four centers were retrospectively studied. Colobomata affected the posterior segment of 35 eyes in 18 patients. Both retinochoroidal and optic disk colobomata were bilaterally observed in 15 patients and unilaterally observed in 3 patients. The coloboma involved the macula totally or partially in 21 eyes of 13 patients. We confirmed that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations; however, even eyes with large colobomata can form maculas. The anatomical severity of the eye defect was graded according to the presence of colobomata, macula defect, and microphthalmos. A comparison of the severity in one eye with that in the other eye revealed a low-to-moderate degree of agreement between the two eyes, reflecting the general facial asymmetry of patients with CHARGE syndrome. The location of protein truncation and the anatomical severity of the eyes were significantly correlated. We suggested that the early diagnosis of retinal morphology and function may be beneficial to patients, since such attention may determine whether treatment for amblyopia, such as optical correction and patching, will be effective in facilitating the visual potential or whether care for poor vision will be needed.

The polymorphisms in CYP3A5 and ABCB1 genes were associated with CNI-related neurotoxicity. This outcome is probably because of CYP3A5 or P-gp functions or metabolites of CNIs.

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Rubinstein-Taybi syndrome (RTS) is characterized by developmental delay, postnatal growth retardation, typical facial appearance, and broad thumbs and big toes. The behavioral phenotype of children with RTS has been described as friendly and having good social contacts; however, a short attention span and hyperactivity are sometimes present. Little attention has been paid to the behavioral aspects of adults with RTS. We conducted an observational study focusing on behavioral problems in adolescents and adults with RTS compared with children with RTS. A total of 63 patients with RTS and their caretakers answered self-administered questionnaires regarding behavioral features including the Child Behavior Checklist (CBCL). High total CBCL scores were observed, and the mean score was beyond the clinical cut-off point. After stratification into two groups according to age, the older group (≥14 years) displayed statistically significant higher scores for Anxious/Depression (P = 0.002) and Aggressive Behavior (P = 0.036) than the younger group (≤13 years). In analyses of single items, statistically significant differences between the younger group and the older group were found for 'Nervous, high-strung, or tense' (31.3% vs 67.7%, P = 0.004) and 'Too fearful or anxious' (37.5% vs 64.5%, P = 0.032). Here, we showed that the specific behavioral phenotypes of RTS change during adolescence, with anxiety, mood instability, and aggressive behavior emerging as patients age. A clear need exists to follow-up patients with RTS to catch the eventual emergence of psychiatric problems with age. If necessary, pharmacological treatment should be considered.