Human milk improves cognitive and motor development of premature infants during infancy.

Thirty-nine premature infants, 29 of whom received human milk (HMG) and 10 of whom received formula only (FG), were enrolled in a study examining the effect of human milk on cognitive and motor development. Infants were assessed at 3, 7, and 12 months corrected ages; the Peabody Picture Vocabulary Test was administered to their mothers. HMG infants had higher motor scores than FG infants at 3 months (48 +/- 20 vs 35 +/- 12, P = .05) and 12 months (63 +/- 20 vs 46 +/- 15, P < .05) and higher cognitive scores at 12 months corrected age (101 +/- 11 vs 90 +/- 9, P < .05). HMG infants had higher scores (motor R2 = 0.2, cognitive R2 = 0.3; P < .05) adjusting for oxygen requirement and maternal vocabulary score. Human milk is associated with improved development of premature infants at 3 and 12 months corrected age in this sample.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

OBJECTIVE: Our goal was to describe the neurologic and clinical features of affected males from families with X-linked patterns of severe mental retardation, hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently includes the MECP2 (methyl-CpG binding protein 2) gene. STUDY DESIGN: To identify duplications, multiplex ligation-dependent probe amplification of the MECP2 gene was performed on male probands from families with X-linked mental retardation. The males either had linkage to Xq28 or had a phenotype consistent with previous reports involving Xq28 functional disomy. After detection of a duplication of MECP2, additional family members were tested to confirm the MECP2 duplication segregated with the affected phenotype, and X-inactivation studies were performed on carrier females. RESULTS: Six families with multiple affected males having MECP2 duplications were identified by multiplex ligation-dependent probe amplification, and the carrier mothers were subsequently shown to have highly skewed X inactivation. In 5 of 6 families, the microduplication extended proximally to include the L1 cell adhesion molecule gene. The primary clinical features associated with this microduplication are infantile hypotonia, recurrent respiratory infection, severe mental retardation, absence of speech development, seizures, and spasticity. CONCLUSIONS: Although many of the phenotypic features of our patients are rather nonspecific in cohorts of individuals with syndromic and nonsyndromic mental retardation, the proneness to infection is quite striking because the patients had normal growth and were not physically debilitated. Although the etiology of the infections is not understood, we recommend considering MECP2 dosage studies and a genetics referral in individuals with severe developmental delay and neurologic findings, especially when a history of recurrent respiratory ailments has been documented.

Medical, functional, and social determinants of health-related quality of life in individuals with myelomeningocele.

The purpose of this study was to identify factors associated with health-related quality of life (HRQOL) in individuals with myelomeningocele. Eighteen female and 16 male patients with myelomeningocele (mean age 13y, SD 6y; range 4 to 27y) were prospectively enrolled. Twenty-four of the patients had lesions at or above the L4 level, and 11 were wheelchair dependent. Twenty-five patients had shunted hydrocephalus; mean IQ of the cohort on testing was 85 (SD 18; range 36 to 111). Functional independence was measured in three areas (self-care, mobility, and social cognition) using the Functional Independence Measure for Children (WeeFIM). The Support Function Scale (social supports available to the family), the Amount of Assistance Questionnaire (assistance required for activities of daily living), and the Health Utilities Index II (HUI-II; perceived health status measure) were completed by participants or their parents. Each patient's HRQOL was quantified using a 'feeling thermometer', which is a plastic 'thermometer' scaled from 0 (least desirable health state) to 100 (perfect health). Results of multiple regression analysis using HRQOL as the dependent variable revealed that the Amount of Assistance Questionnaire, WeeFIM self-care, and HUI-II were significantly correlated with quality of life ratings (p < 0.025). Maximizing functional independence should be a priority in improving HRQOL in individuals with myelomeningocele.