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PubMed1978

Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.

Two preschool-age siblings with similar histories of encephalopathy were examined for developmental retardation and found to have elevated levels of urinary and blood glycine. Their inability to convert glycine into serine in the absence of elevated blood and urinary ketone levels was suggestive of a defect in the glycine-cleavage enzyme system (or serine hydroxymethyl transferase). These patients differ significantly from the majority of reported cases of nonketotic hyperglycinemia in that they did not manifest life-threatening neonatal illness, severe mental retardation, or neurological deficits. However, during an oral glycine load, alterations in the electroencephalographic pattern occurred that suggested a relationship between elevated blood glycine levels and pathological involvement of the central nervous system. The ratio of CSF-blood glycine was found to be in the range expected for nonketotic hyperglycinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1985

The frequency of vestibular disorders in developmentally delayed preschoolers with otitis media.

This study investigated the frequency of vestibular disorders in developmentally disabled preschoolers who did and who did not have a history of otitis media. Fifteen children with a history of otitis media and fifteen children with no history of otitis media were given two tests for vestibular functioning: the Southern California Postrotary Nystagmus Test (SCPNT) and the Lateral Labyrinthine Righting Reaction (LLRR), acting on the head. The scores on these tests were dichotomized, and a correlation between these two tests as measures of vestibular function was obtained. Because this correlation did not reach a satisfactory level, two a satisfactory level, two separate chi-square analyses were performed to examine the frequency of vestibular disorders with otitis media. Both tests showed a statistically significant difference in the incidence of vestibular disorders between the two groups of children; the group having otitis media demonstrated more vestibular disorders. The SCPNT demonstrated more striking results than did LLRR. This finding is related to the two tests measuring different aspects of vestibular functioning; the separate chi-square analyses were performed to examine the frequency of vestibular disorders with otitis media. Both tests showed a statistically significant difference in the incidence of vestibular disorders between the two groups of children; the group having otitis media demonstrated more vestibular disorders. The SCPNT demonstrated more striking results than did LLRR. This finding is related to the two tests measuring different aspects of vestibular functioning; the SCPNT reflects semicircular canal functioning, and the LLRR reflects utricular and saccular functioning. The criteria used for LLRR (four seconds) also may have influenced the results obtained using this test.

Child, Preschool↗
PubMed2006

Breastfeeding and developmental delay: findings from the millennium cohort study.

OBJECTIVE: We investigated whether the duration and exclusivity of breastfeeding affects the likelihood of gross and fine motor delay in infants and examined the effect of factors that might explain any observed differences. METHODS: The study sample included all term singleton infants who weighed > 2500 g at birth and were not placed in a special care infant unit and whose mothers participated in the first survey of the Millennium Cohort Study. Missing data reduced the sample to 14660 (94%) with complete data. RESULTS: Almost half (47%) of the infants initially were exclusively breastfed, but only 3.5% of these infants were still being fed exclusively on breast milk after 4 months of age, and 34% of infants were not breastfed at all; 9% of the infants were identified with delays in gross motor coordination and 6% with fine motor coordination delays at age 9 months. The proportion of infants who mastered the developmental milestones increased with duration and exclusivity of breastfeeding. Infants who had never been breastfed were 50% more likely to have gross motor coordination delays than infants who had been breastfed exclusively for at least 4 months (10.7% vs 7.3%). Any breast milk also was positively related to development: infants who had never been breastfed were 30% more likely to have gross motor delays than infants who were given some breast milk for up to 2 months (10.7% vs 8.4%). The odds ratios for gross motor delay were not attenuated after adjustment for biological, socioeconomic, or psychosocial factors. Infants who were never breastfed had at least a 40% greater likelihood of fine motor delay than infants who were given breast milk for a prolonged period. CONCLUSION: Our results suggest that the protective effect of breastfeeding on the attainment of gross motor milestones is attributable to some component(s) of breast milk or feature of breastfeeding and is not simply a product of advantaged social position, education, or parenting style, because control for these factors did not explain any of the observed association. In contrast, the association between breastfeeding and fine motor delay was explained by biological, socioeconomic, and psychosocial factors.

Breast Feeding↗
PubMed2003

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

We describe the case of a 22-month-old boy with developmental and psychomotor retardation as well as craniofacial dysmorphism, including a cleft lip. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 3, del(3)(p13p11). Fine mapping of the deletion was performed using fluorescence in situ hybridisation analysis with region-specific BAC clones. Eight BACs were absent from one chromosome 3 from the patient. Molecular analyses of eleven polymorphic DNA markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 3 is of paternal origin. The deleted segment encompasses about 15 Mb between marker D3S3551 and the centromere. Only a small number of known genes, including PROK2, GPR27, RYBP, PPP4R2, ROBO1, and GBE1, which map in the 3p13-p11 region are included in the deletion.

Abnormalities, Multiple↗
PubMedDate not supplied

A home advisory service for pre-school children with developmental delays.

This paper describes the development of a home advisory service for families of children with developmental difficulties. It demonstrates the transition from a research phase to routine service provision, and indicates that the expansion in numbers of families receiving the service has been achieved whilst maintaining or improving the actual quality of the service. Information is provided on the placement of children who have left the service, and on the plans for future research within the service.

Child Development↗
PubMed2001

Longitudinal change in parenting associated with developmental delay and catch-up.

The current study examined the predictors of parent-child relationship quality and developmental change in a sample of children adopted into the U.K. following severe early privation, and in a comparison sample of nondeprived, within-country adoptees. One hundred and fifty-eight children adopted from Romania and 52 U.K. adoptees were assessed at age 6 years; longitudinal data (age 4 and 6 years) were available on the 110 Romanian adoptees placed into U.K. homes before 24 months of age and all U.K. adoptees. Ratings of parent-child positivity and negativity during a semistructured interaction task were obtained from coders who were blind to the child's background. Results indicated that adoptive parent-child relationship quality was related to duration of deprivation and that cognitive/developmental delay mediated this association. The magnitude of this effect was modest and diminished over time. Longitudinal analyses revealed that positive change in parent-child relationship quality was most marked among children who exhibited cognitive catch-up between assessments. The direction of effects appeared to be primarily child to parent. The findings underscore the need for further research on the long-term impact of early experiences on psychosocial development.

Adoption↗
PubMed1982

Hyperlexia: precocious word recognition in developmentally delayed children.

Seven children who had unusually precocious word-recognition skills and otherwise had multiple significant developmental deviations were identified. Past findings are reviewed along with psychometric results and clinical observations of the seven hyperlexic children. Implications concerning the syndrome of hyperlexia and how this behavioral pattern may disrupt the acquisition of appropriate modalities of communication are discussed.

Adolescent↗